Primary amenorrhoea and clitoromegaly in a nulliparous woman: successful medical and surgical management

Clitoromegaly is an important sign of virilisation and poses difficulty in sex determination, when present since birth. The diagnosis and treatment in an adult is a major challenge to the treating gynaecologist. The primary reason for its development is androgen excess due to congenital adrenal hyperplasia, polycystic ovarian syndrome, ovarian virilising tumours, neurofibromas, adrenal neoplasm and prolonged intake of anabolic steroids. A case of young nulliparous married woman who presented with primary amenorrhoea and clitoromegaly and was managed successfully has been reported.

https://ift.tt/2Oksp5d

Giant left breast hamartoma in a 45-year-old woman

This is a case of a woman in her fifth decade of life who presented with a lump in her left breast. The patient underwent extensive breast investigations which did not confirm one particular diagnosis. The lesion was excised, and histological findings confirmed the diagnosis of a giant breast hamartoma. This case is interesting due to the largeness. As well as this, giant breast hamartomas are uncommon, and this case highlights the difficulty in their diagnosis and frequent misdiagnoses, potentially contributing to their reported low incidence rates. Diagnosis is difficult due to the complex appearance of the mass on imaging, raising the possibility of malignancy. Core biopsy is unremarkable, with the final diagnosis only possible on histological examination of the resected mass.

https://ift.tt/2Qi7Zaf

Hypoxic hepatitis and furosemide

Hypoxic hepatitis is a rather common complication of heart, circulatory or respiratory failure. We present the case of a patient with hypoxic hepatitis in the setting of heart failure and dehydration from furosemide as a reminder of an important clinical lesson. The pathogenesis of hypoxia (especially in the case of heart failure) is explained by a two-hit mechanism in which the liver at risk of hypoxic injury by passive hepatic congestion (right heart failure) is subsequently exposed to systemic hypoperfusion, which leads to a marked and transient elevation of aminotransferases. In the case presented, the use of furosemide (at least partially) promoted the second hit because it helped to generate hypotension and splanchnic hypovolaemia and favoured hepatic hypoxia.

https://ift.tt/2OvR5rD

Red colour venous flow in the suprasternal view: a red flag sign

Description 

A 3-day-old full-term neonate, born by normal vaginal delivery, was presented with respiratory distress and mild cyanosis. His room air saturation in all four limbs was 84%. The clinical examination was unremarkable. Chest X-ray showed cardiomegaly and increased pulmonary vascular markings. Transthoracic echocardiography revealed 8 mm ostium secundum atrial septal defect (ASD) with bidirectional shunt and dilated right atrium and right ventricle with absence of individual pulmonary veins (PV) draining into left atrium (LA). Suprasternal view showed vertical vein (VV) which was recognised as a vessel lateral to LA with red-coloured continuous flow on Doppler (figure 1). The PVs were draining into the venous confluence behind the LA which was draining into the VV. VV connects into the left innominate vein which finally forms the right superior vena cava (figure 1, video 1).

Figure 1

Suprasternal view demonstrating vertical vein....

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Use of long saphenous vein graft in acute on chronic mesenteric ischaemia

Acute mesenteric ischaemia is a relatively rare surgical emergency, but despite advances in diagnostic tests, the mortality of this condition remains stubbornly high (50%–80%). This is principally because of the non-specific nature of the presenting symptoms and subsequent delay in diagnosis. We report an unusual case of acute mesenteric ischaemia treated by emergency laparotomy, small bowel resection and revascularisation using reversed long saphenous vein graft.

https://ift.tt/2OuqZVW

Primary undifferentiated pleomorphic cardiac sarcoma with MDM2 amplification presenting as acute left-sided heart failure

Primary cardiac tumours are a rare clinical entity that can present with myriad of non-specific cardiopulmonary symptoms. We describe a case of a 61-year-old previously healthy woman who presented with progressive dyspnoea and lower extremity swelling, suggestive of acute left-sided heart failure. Transthoracic echocardiogram revealed a large, 3.7x3.2 cm intracardiac mass resulting in severe mitral valvular dysfunction. The patient underwent surgical resection of the mass, however, negative margins were not obtained, and the tumour quickly returned. Histological and molecular analysis was consistent with the diagnosis of undifferentiated pleomorphic sarcoma with murine double minute 2 (MDM2) amplification. Given the overall grim prognosis, the patient chose to pursue comfort-based care. She died at home 9 months after the initial diagnosis. Here, we provide an updated review of the literature for the classification of undifferentiated pleomorphic cardiac sarcoma and potential treatment modalities.

https://ift.tt/2QgTJ1o

A delayed diagnosis: recurrent fever and beta thalassaemia

Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.

https://ift.tt/2OrAHIg

Imaging features of toxic megacolon

Description 

A 27-year-old woman presents with vomiting and abdominal pain for 2 days. She had been diagnosed with ulcerative colitis (UC) 2 weeks prior and was started on oral sulfasalazine and prednisolone. Currently, she is afebrile and not tachycardic. On examination, the abdomen was distended and tender centrally. Serial abdominal radiographs showed persistently dilated transverse colon with loss of haustra (figure 1). CT abdomen revealed diffuse bowel thickening involving the ascending colon, caecum and terminal ileum with multiple pseudopolyps at the ascending colon (figure 2). The transverse colon is dilated up to 6.8 cm (figure 3). There are also multiple enlarged right-sided mesenteric nodes. A diagnosis of toxic megacolon (TM) was made. She deteriorated during admission due to acute pulmonary embolism. Blood investigations showed marked leucocytosis (32x10⁹/L) and raised C-reactive proteins (98.7 mg/L). Subtotal colectomy involving the caecum until splenic flexure was performed followed by ileostomy and mucous...

https://ift.tt/2Qk8l04

Modified laparoscopic Janeway gastrostomy: a novel adjunct for the management of choledocholithiasis in Roux-en-Y patients

A 76-year-old woman with surgical history of Roux-en-Y gastric bypass presented with recurrent choledocholithiasis. Double balloon enteroscopy was unsuccessful in cannulating the biliary tree, thus, requiring surgically assisted endoscopic retrograde cholangiopancreaticogram (ERCP) access. Due to her stable clinical status, the non-urgent indication and multiple anticipated ERCPs for definitive biliary clearance, a more durable port of access to the ampulla was desired. A modified laparoscopic Janeway gastrostomy of the gastric remnant was performed and served as access for multiple subsequent endoscopic procedures with successful clearance of the biliary tree.

https://ift.tt/2OrAODG

DRESS syndrome due to vemurafenib treatment: switching BRAF inhibitor to solve a big problem

We present a case report of an early-onset drug reaction with eosinophilia and systemic symptoms (DRESS syndrome) induced by vemurafenib (BRAF inhibitor) in a middle-age man affected by a metastatic, BRAF mutant melanoma who was started on first-line metastatic treatment with vemurafenib and cobimetinib.

After initiating the treatment, the patient presented an extensive cutaneous rash with eosinophilia and renal impairment. Due the constellation of signs and symptoms, a diagnosis of DRESS syndrome was made which strongly contraindicated the reintroduction of vemurafenib due to its hypersensibility reaction. Thus, vemurafenib was stopped immediately, and we started corticoid treatment with clinical improvement.

Due to the contraindication to start vemurafenib again, after multidisciplinary view of the case and having balanced the risks and benefits, we successfully performed a switch to another BRAF inhibitor in a progressively ascending pattern, without any skin toxicity and with a good response of the metastatic melanoma.

https://ift.tt/2QjVXgw

Duplicated middle cerebral artery associated with aneurysm at M1/M2 bifurcation: a case report

A duplicated middle cerebral artery arises from the internal carotid artery and supplies blood to the middle cerebral artery territory. A duplicated middle cerebral artery is sometimes associated with an intra...

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Head and Neck Cancer in Haiti: A Case Series from Hopital de L’Universite d’Etat d’Haiti

This manuscript characterizes the demographics, presenting symptoms and risk factors of patients diagnosed with head and neck cancer at Hopital de L'Universite d'Etat d'Haiti (HUEH), Haiti's single largest healthcare facility. We conducted a prospective study of patients who presented to HUEH between January and March of 2016 with a lesion of the head or neck suspicious for cancer. All patients who met eligibility criteria received a biopsy, which was interpreted by a Haitian pathologist and when the specimen was available was confirmed by a team of pathologists from Stanford University. A total of 34 participants were identified. The biopsy-confirmed diagnoses were squamous cell carcinoma (n=7), benign (n=7), large cell lymphoma (n=2), ameloblastoma (n=2), pleomorphic adenoma (n=1), and adenocarcinoma (n=1). Fourteen patients were unavailable for biopsy. Patients with head and neck cancer had a mean age of 63.4 years, were majority male (62.5%), waited on average 10.9 months to seek medical attention, and most commonly presented with T-stage 3 or higher disease (87.5%). By characterizing patterns of head and neck cancer at HUEH we hope to facilitate efforts to improve early detection, diagnosis, and management of this important public health condition.

https://ift.tt/2NVGmXK

A bronchoprotective role for Rgs2 in a murine model of lipopolysaccharide-induced airways inflammation

Asthma exacerbations are associated with the recruitment of neutrophils to the lungs. These cells release proteases and mediators, many of which act at G protein-coupled receptors (GPCRs) that couple via Gq to...

https://ift.tt/2OmhBUe

2018 Sidney H. Ingbar Distinguished Lectureship Award to Be Given to Anthony N. Hollenberg, MD, at American Thyroid Association’s Annual Meeting

October 1, 2018—The American Thyroid Association (ATA) is pleased to announce that the 2018 Sidney H. Ingbar Distinguished Lectureship Award recipient will be Dr. Anthony N. Hollenberg, currently Professor and Chief of the Division of Endocrinology, Metabolism, and Diabetes at Beth Israel Hospital, Boston, as well as Physician in Endocrinology at Beth Israel Deaconess Medical Center (BIDMC).

The Ingbar Award recognizes an established investigator who has made outstanding contributions to thyroid-related research over many years. The award honors the memory of Dr. Sidney H. Ingbar, a brilliant innovator who was once Chief of the Beth Israel Thyroid Unit, a position Dr. Hollenberg now holds. The medal is conferred at the ATA Annual Meeting, held this year from October 3 to 7 in Washington, DC. On Friday, October 5, at 1 pm, Dr. Hollenberg will deliver the Sidney H. Ingbar Distinguished Award Lecture, titled "New Insights into Thyroid Hormone Action."

Dr. Hollenberg is recognized internationally for his consistent research contributions in studies of the molecular action of thyroid hormones. He was among the first to identify that thyrotropin-releasing hormone (TRH) neurons in the hypothalamus serve as integrators of metabolic input, setting thyroid hormone levels within the context of body weight. He was also among the first to identify the role of specific co-repressors in negative regulation by the thyroid and helped to establish the idea that hormone sensitivity is due to the quantity of co-repressors present. He has had an independent research laboratory at Beth Israel Hospital since 1993 and been funded continuously by the NIH since 1995. In addition, he founded the Thyroid Nodule Clinic at BIDMC 16 years ago to enable clinicians, radiologist, and cytologist to practice together, enhancing clinical care for patients with nodules.

In addition to groundbreaking research in thyroid hormone receptor action and function, Dr. Hollenberg has more recently begun a new program in his laboratory focused on the development of functioning thyroid follicular cells from embryonic stem cells, working in conjunction with the Kotton lab at Boston University School of Medicine.

Dr. Hollenberg received his MD from the Faculty of Medicine at the University of Calgary, Alberta, after earning his AB degree cum laude in biochemical sciences from Harvard College. He spent his internship and residency at BIDMC, after which he was Chief Medical Resident there for one year. Overlapping that appointment and continuing after it, he was Clinical and Research Fellow in Endocrinology as Massachusetts General Hospital (MGH). At the same time, he has risen from Instructor to Professor of Medicine at Harvard Medical School and has held—and continues to hold—numerous administrative positions at the local, national, and international levels. He has been a welcomed speaker at symposia, seminars, society meetings, and medical schools around the world for almost 20 years.

In addition to his research and academic activities, Dr. Hollenberg has served in an editorial capacity for the New England Journal of Medicine, Proceedings of the National Academy of Sciences, Endocrinology, Journal of Biological Chemistry, and many other journals and been on the editorial boards of Endocrinology and Molecular Endocrinology. Over 100 publications and book chapters have Dr. Hollenberg's signature and he has mentored and trained well over 100 graduate students and laboratory trainees. He received the ATA's Van Meter Award and the British Endocrine Society's Pitt Rivers Award, among others.

Through his sophisticated research, innovations, public speaking, and publications, Dr. Hollenberg has contributed significantly and continuously to the well-being of those with thyroid disease. That commitment, combined with his dedication to his patients and students, makes him a very worthy recipient for the highly sought after and prestigious, Sidney H. Ingbar Distinguished Award.

 ###

The American Thyroid Association (ATA) is the leading worldwide organization dedicated to the advancement, understanding, prevention, diagnosis, and treatment of thyroid disorders and thyroid cancer. ATA is an international membership medical society with over 1,700 members from 43 countries around the world. Celebrating its 95^th anniversary, the ATA continues to deliver its mission of being devoted to thyroid biology and to the prevention and treatment of thyroid disease through excellence in research, clinical care, education, and public health.  These efforts are carried out via several key endeavors:

•  The publication of the highly regarded professional journals Thyroid, Clinical Thyroidology, and VideoEndocrinology
• Annual scientific meetings
• Biennial clinical and research symposia
• Research grant programs for young investigators
• Support of online professional, public, and patient educational programs
• Development of guidelines for clinical management of thyroid disease and thyroid cancer

 The ATA promotes thyroid awareness and information online through Clinical Thyroidology for the Public and extensive, authoritative explanations of thyroid disease and thyroid cancer in both English and Spanish. The ATA website serves as the clinical resource for patients and the public who look for reliable information on the Internet. Every fifth year, the American Thyroid Association joins with the Latin American Thyroid Society, the European Thyroid Association, and the Asia and Oceania Thyroid Association to cosponsor the International Thyroid Congress (ITC).

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2018 Paul Starr Award to Be Given to Scott A. Rivkees, MD, at American Thyroid Association’s Annual Meeting

October 1, 2018—The American Thyroid Association (ATA) is pleased to announce that the 2018 Paul Starr Award recipient and lecturer will be Dr. Scott A. Rivkees, Professor and Chair, as well as Nemours Eminent Scholar, at the University of Florida Department of Pediatrics. Dr. Rivkees is also Physician-in-Chief at Shands Children's Hospital in Gainesville, Academic Chair of Pediatrics at Arnold Palmer Hospital in Orlando, and University of Florida Chair of Pediatrics at Studer Family Children's Hospital at Sacred Heart in Pensacola.

The Starr Award is presented to an outstanding contributor to clinical thyroidology. At the ATA Annual Meeting in Washington, DC, Dr. Rivkees will deliver the Paul Starr Award Lecture at 1:00 pm on October 4, 2018, on "Unmasking the Problems With Antithyroid Medication Safety."

Dr. Rivkees earned his BS in biochemistry from Cook College at Rutgers University and his MD from New Jersey Medical School. Thereafter, he was a Resident in Pediatrics at Massachusetts General Hospital (MGH) and Clinical Fellow in Pediatrics at Harvard Medical School (HMS), then a Clinical Fellow in Pediatric Endocrinology at both locations. While working as a Postdoctoral Fellow in Neuroscience—again at both locations—Dr. Rivkees was also a Research Fellow at MGH. After his postdoc, he was appointed Instructor in Pediatrics at HMS and Assistant in Pediatrics at MGH, followed by Assistant Professor of Pediatrics at HMS and Associate Professor Pediatrics at Indiana University and Yale University. After receiving tenure at Yale, he became director of the Yale Child Health Research Center, Professor of Pediatrics, Chief of the Section of Developmental Endocrinology and Biology, and Associate Chair of Yale Pediatrics for Research, all at the same time. From there he moved to his current appointments in Florida.

Dr. Rivkees's important contributions have focused on pediatric thyroidology, but also on thyroidology more generally. He made public the dangers—especially the onset of liver failure—associated with the use of the medicine propylthiouracil, which resulted in worldwide changes in the treatment of hyperthyroidism. Through his research, clinical work, and publications, he was responsible for changing the way children with juvenile-acquired hypothyroidism are treated. He wrote many papers concerning the risks and benefits of using radioactive iodine in children with thyroid disease, predating the ATA's own guidelines on treating pediatric thyroid cancer. And he started the first Pediatric Thyroid Cancer Program in the US, at Yale University.

Another area of Dr. Rivkees's research evaluated the risks of antithyroid medications to both mother and fetus, which led to findings that are now incorporated into the ATA guidelines for managing hypothyroidism during pregnancy.

Dr. Rivkees has written over 230 articles, chapters, and editorials. He is Editor-in-Chief of the International Journal of Pediatric Endocrinology and a member of the American Society for Clinical Investigation. He has been named "One of America's Best Doctors" and "One of America's Top Pediatricians," as well as "Physician of the Year" by the CARES Foundation. Dr. Rivkees has served on numerous panels, advisory boards, editorial boards, and symposia and in 2012 was named a Fellow of the American Academy for the Advancement of Science. He holds one patent, with three more pending.

Over the past three-plus decades, Dr. Rivkees has demonstrated repeatedly his dedication to clinical thyroidology, improving the care of infants, children, and adolescents worldwide. That commitment, combined with his dedication to his patients and students, makes him a very worthy recipient for the highly sought after and prestigious, 2018 Paul Starr Award, the first ever given to a pediatric endocrinologist.

 ###

The American Thyroid Association (ATA) is the leading worldwide organization dedicated to the advancement, understanding, prevention, diagnosis, and treatment of thyroid disorders and thyroid cancer. ATA is an international membership medical society with over 1,700 members from 43 countries around the world. Celebrating its 95^th anniversary, the ATA continues to deliver its mission of being devoted to thyroid biology and to the prevention and treatment of thyroid disease through excellence in research, clinical care, education, and public health.  These efforts are carried out via several key endeavors:

•  The publication of the highly regarded professional journals Thyroid, Clinical Thyroidology, and VideoEndocrinology
  
• Annual scientific meetings
• Biennial clinical and research symposia
• Research grant programs for young investigators
• Support of online professional, public, and patient educational programs
  
• Development of guidelines for clinical management of thyroid disease and thyroid cancer

 The ATA promotes thyroid awareness and information online through Clinical Thyroidology for the Public and extensive, authoritative explanations of thyroid disease and thyroid cancer in both English and Spanish. The ATA website serves as the clinical resource for patients and the public who look for reliable information on the Internet. Every fifth year, the American Thyroid Association joins with the Latin American Thyroid Society, the European Thyroid Association, and the Asia and Oceania Thyroid Association to cosponsor the International Thyroid Congress (ITC).

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2018 Lewis E. Braverman Distinguished Award to Be Presented to R. Michael Tuttle, MD, at American Thyroid Association’s Annual Meeting

October 1, 2018—The American Thyroid Association (ATA) announces with pleasure that the 2018 Lewis E. Braverman Distinguished Award recipient will be Dr. R. Michael Tuttle, currently Clinical Director of the Endocrinology Service and Attending Physician at Memorial Hospital for Cancer and Allied Diseases in New York City. Academic positions include Member, at Memorial Sloan Kettering Cancer Center (MSKCC) and Professor of Medicine at Weill Medical College of Cornell University, both in New York City.

The Braverman Distinguished Award is presented annually to an individual who: demonstrates excellence and passion for mentoring fellows, students, and junior faculty; has a long history of productive thyroid research; and is devoted to the ATA. Dr. Tuttle will give the Braverman Lecture, entitled "Common Clinical Thyroid Cancer Questions in Need of Better Answers" on October 6 at 10:45 am, during the ATA Annual Meeting, which is held this year from October 3 to 7 in Washington, DC.

Dr. Tuttle has demonstrated his teaching and mentoring excellence in training medical students, interns, residents, and fellows during his entire career. Many of his past fellows have gone on to national and international prominence in thyroid cancer research, treatment, and education. To quote one of his fellows, now an assistant professor from Saudi Arabia, he learned from Dr. Tuttle that "it is OK to change my practice and admit to do so if studies proved new evidence…. I learned how to communicate with colleagues and other working staff in a delightful way. He was always considerate and open to new ideas." Another cancer physician writes that after his fellowship with Dr. Tuttle he "gave multiple lectures around the country [Israel] that helped change the 'one size fits all' approach to a more risk-adapted, personalized approach." Through hundreds of invited lectures, meetings, and grand rounds, as well as his almost 300 publications, Dr. Tuttle has reached even more medical students, fellows, and peers with his emphasis on minimalism in treatment.

Dr. Tuttle's research has had major clinical impact over the years on the care of thyroid cancer patients. His laboratory's work confirmed that a recurrence staging system effectively predicts the risks of recurrence and persistent disease and that these risk assessments can be used productively to tailor follow-up recommendations for individual patients on a case-by-case basis, rather than using generalized treatment methods. Another of his mentees comments, "Thanks to everything learned with Dr. Mike Tuttle…the quality of life of patients with diagnosis and thyroid cancer in Chile is significantly higher."

An active member of the ATA since 1997, Dr. Tuttle has served on multiple committees, such as Clinical Affairs, Standards of Care, and Membership, among others. He was Program Chair of the 2014 Annual Meeting and a member of the Board of Directors from 2007 to 2011. He was key in drafting the ATA Guidelines on the Management of Thyroid Nodules and Thyroid Cancer and continues to be active on that committee, and he currently is Chair of the ATA's Medullary Thyroid Cancer Registry Consortium. In addition, Dr. Tuttle has been a reviewer for the ATA's journal Thyroid (as well as many other journals) and was Associate Editor of Thyroid from 2013 through 2015. He has attracted many new members to the ATA with his great enthusiasm for the study of thyroid disease.

Dr. Tuttle earned his BS in biology magna cum laude from Northern Kentucky University and his MD cum laude from the University of Louisville School of Medicine, KY. He spent his internship and residency in Internal Medicine at Dwight David Eisenhower Army Medical Center, Augusta, GA, where he was awarded "Outstanding Graduating Resident." He held a Clinical Fellowship in endocrinology, a Research Fellowship in endocrinology and molecular biology, and then was Staff Endocrinologist, all at Madigan Army Medical Center in Tacoma, WA. His hospital positions thereafter were at Walter Reed Army Medical Center and then the Department of Medicine, Memorial Hospital for Cancer and Allied Disease, NYC, where he is now Attending Physician and Clinical Director of the Endocrinology Service. At the same time, his teaching and research positions have led him through the professional ranks at Memorial Sloan Kettering Cancer Center and the Weill Medical College of Cornell University.

Dr. Tuttle continues to leave a significant impact in the thyroid cancer field through his valuable mentoring, research, and contributions to the ATA.  That commitment, combined with his dedication to his patients and students, makes him a very worthy recipient for the highly sought after and prestigious, 2018 Lewis E. Braverman Distinguished Award.

 ###

The American Thyroid Association (ATA) is the leading worldwide organization dedicated to the advancement, understanding, prevention, diagnosis, and treatment of thyroid disorders and thyroid cancer. ATA is an international membership medical society with over 1,700 members from 70 countries around the world. Celebrating its 95^th anniversary, the ATA delivers its mission of being devoted to thyroid biology and to the prevention and treatment of thyroid disease through excellence in research, clinical care, education, and public health. 

These efforts are carried out via several key endeavors:

• The publication of the highly regarded professional journals Thyroid^®, Clinical Thyroidology^®, and VideoEndocrinology
• Annual scientific meetings
• Biennial clinical and research symposia
• Research grant programs for young investigators
• Support of online professional, public, and patient educational programs
• Development of guidelines for clinical management of thyroid disease and thyroid cancer

 Further information about the ATA^® annual meeting can be found https://www.thyroid.org/88th-annual-meeting-ata/ and research grants program https://www.thyroid.org/media-main/ and patient information https://www.thyroid.org/thyroid-information/.  The ATA promotes thyroid awareness and information online through Clinical Thyroidology^® for the Public and extensive, authoritative explanations of thyroid disease and thyroid cancer in both English and Spanish. The ATA website serves as the clinical resource for patients and the public who look for reliable information on the Internet. Every fifth year, the American Thyroid Association joins with the Latin American Thyroid Society, the European Thyroid Association, and the Asia and Oceania Thyroid Association to cosponsor the International Thyroid Congress (ITC).

 

The post 2018 Lewis E. Braverman Distinguished Award to Be Presented to R. Michael Tuttle, MD, at American Thyroid Association's Annual Meeting appeared first on American Thyroid Association.

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The American Thyroid Association holds its 88th Annual Meeting at the Marriott Marquis, Washington DC from October 3-7, 2018

The 88^th Annual Meeting of the American Thyroid Association (ATA) is almost here!! On behalf of the program committee, we look forward to welcoming you and your guests to our ATA annual meeting to be held October 3-7, 2018 at the Marriott Marquis Washington DC. This year the program committee, comprised of experts of all thyroid disciplines, has worked tirelessly to develop a program featuring the latest advances in basic/ translational and clinical thyroidology (www.thyroid.org). Meeting registration is on track to generate the highest attendance we have ever had for an ATA meeting. Washington, DC is a world-class destination with many stellar cultural, musical and museum attractions (within walking distance of the headquarters' hotel) available to attendees and their families.

New Programs This Year

This year the program will feature a wide variety of primary lectures, symposia and discussion-debates/meet the professor workshops that have been highly rated in the past along with several new sessions we hope to be of great interest. The first is the very first ATA international symposium – the ATA Latin American Satellite Symposium from 1:00 PM to 4:00 PM on Wednesday, October 3. This will represent a gathering of Latin American and ATA leaders allowing for true international interaction, networking, collaboration, the renewal of old and hopefully the development of new friendships. The international representation of the annual meeting is reflected by the over 543 abstracts submitted representing more than 38 countries.

The other new addition to the 2018 program is the 1^st Annual Advanced Practice Providers (APP) Satellite Symposium from 1:00 to 6:00 PM on Saturday, October 6.  This symposium reflects the growing membership within the ATA of advanced practice providers.  Reflecting this, the APP symposium will bring together the spectrum of healthcare professionals comprising the clinical "thyroid team"; focusing on all aspects of clinical management of thyroid disease, including nurse practitioners, clinical nurse specialists, advanced degree nurses and physician assistants.

Opening Day

Of interest in our pre-meeting programming is the ATA Endocrine Neck Advanced Ultrasound Course co-chaired by Kevin Brumund and Susan Mandel on Wednesday, October 3 and the E. Chester Ridgway Trainee Conference, an extensive clinical and basic training program co-chaired by Jacqueline Kung and Jennifer Sipos (for both these pre-congress programs preregistration is required, and seating is limited). On the evening of October 3, the annual meeting will kick off with our traditional Year in Thyroidology review featuring three leaders to discuss and interpret the top recent literature published in basic, clinical and surgical thyroidology. Christine Spitzweg, Virginia Sarapura, and Amy Chen will present summaries of the most notable studies in each of their respective fields. This remains a highly anticipated opening session and will be followed by the

This year, we have two distinguished speakers who will be presenting timely and novel plenary lectures: Dr. Kevin Harold from Yale University speaking on The Role of the Microbiome in Thyroid Autoimmunity and Dr. Timothy Chan from MSKCC discussing Antitumor Immunology and Immune therapies for Advanced Thyroid Cancer. Notable symposia include: Clinical Symposium: Iodine and Health, chaired by Elizabeth Pearce with speakers Jonathan Gorstein, Sarah C. Bath and Angela M. Leung; Basic Symposium: Genetic Landscapes on Advanced Thyroid Cancers chaired by Laura Boucai, with speakers Mingzhao Xing, Matthew D. Ringel and James A. Fagin. The highly anticipated Arthur Bauman Clinical Symposium will focus on cytologically indeterminate thyroid nodules and the role (and controversies) of molecular markers in their management strategies.

Awards remain an important part of the meeting, with recognitions being held for the following:

• The ATA will announce the recipient of the Van Meter Award on Thursday, October 4^th in recognition of outstanding contributions to thyroid research.
• Scott A. Rivkees is the recipient of the Paul Starr Award, which recognizes outstanding contributions to clinical thyroidology, and will present Unmasking the Problems with Anti-Thyroid Medication Safety.
• The ATA Distinguished Service Award will be presented to David H. Sarne for his outstanding contributions to the society.
• The John B. Stanbury Thyroid Pathophysiology Medal will be awarded to Marvin C. Gershengorn.
• The Clark T. Sawin Historical Presentation on the Treatment of Hypothyroidism – from Animal Extracts to Current Controversies will be moderated by Peter Kopp, with panelists to include John Morris, Valerie Anne Galton, Jacqueline Jonklaas and Stephen LaFranchi.
• The Sidney H. Ingbar Distinguished Awardee, an established investigator who has made major contributions to thyroid-related research over many years, is Anthony Hollenberg who will speak on New Insights into Thyroid Hormone Action.
• The Lewis E. Braverman Distinguished Lectureship Award established in 2011 to recognize an individual who has demonstrated excellence and passion for mentoring fellows, students and junior faculty is being presented by R. Michael Tuttle on Common Clinical Thyroid Cancer Questions in Need of Better Answers.

Based on the success of last year's meeting, we are pleased to again offer the ATA Pediatric Thyroid Forum Satellite Symposium – Current state and Future Directions, co-chaired by Andrew Bauer and Catherine Dinauer taking place Saturday, October 6.

Mainstays of the Annual meeting, Discussion-Debates/Meet The Professor Workshops have shown high registration numbers thus far, including Locally Advanced Thyroid Cancer in the Era of TKIs, Endocrine and Nuclear Medicine – Controversies, Consensus and Collaboration in the use of RAI therapy in DTC, Understanding of Thyroid Pathology and Cytology for Endocrinologists and Surgeons, Thyroid Disease and Pregnancy, Medullary Thyroid Cancer – Updates on Detection, Management and Postoperative follow-up, RET translational symposium – 25 year anniversary of RET and Precision Medicine in Thyroid Cancer 2018.

Surgical programming

The surgical component of this year's annual meeting will be strong with participation of our many surgeon members representing numerous thyroid surgical societies. Sessions of interest to surgeons include the Role of molecular markers and evaluation of thyroid nodules chaired by Jennifer Sipos, a session on Medullary Thyroid Cancer chaired by Rich Wong, a session on Patient Reported Outcomes in Thyroid Cancer Treatment chaired by Megan Haymart and Jeffrey Garber and a special Surgical Symposium on Multidisciplinary Management of Graves' Disease 2018 chaired by Rosemary Metzger as well as a Thyroid Cancer Tumor Board session chaired by Catherine Sinclair and a session on Locally Advanced Thyroid Cancer Management in the Era of TKIs moderated by Wendy Sacks. We will again have a VideoEndocrinology session on Risk stratification of thyroid cancer chaired by William Barry Inabnet and David Terris.

ATA Governance and Constituency-building

The ATA annual meeting is a great time to work for the ATA within its committee structure and to get time to engage directly with colleagues and trainees over a poster or by discussion of an oral abstract presentation. Meet presenters and attendees with backgrounds in basic and clinical thyroid research, general endocrinology, otolaryngology, endocrine surgery, pediatric endocrinology, medical oncology, nuclear medicine, laboratory sciences, industry, pathology, cytology, advanced practice providers and allied health disciplines. Meet with pharmaceutical, device and technology sponsors and our patient support groups at the 2018 ATA Thyroid EXPO. ATA committee meetings will be held Wednesday, October 3, the Women in Thyroidology Networking Reception also Wednesday, October 3 the annual ATA Business Meeting will be held Thursday, October 4.

CME and MOC credits available

This year through meeting attendance one may earn a maximum of 23.50 AMA PRA Category 1 Credits™ and in addition through a new Maintenance of Certification (MOC) program attendees may earn up to 23.50 medical knowledge MOC points in the American Board of Internal Medicine MOC program through their program and activity reporting system and ACCME.

 

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2018 Distinguished Service Award to Be Given to David H. Sarne, MD, at American Thyroid Association’s Annual Meeting

October 1, 2018—The American Thyroid Association (ATA) is pleased to announce that the 2018 Distinguished Service Award recipient will be Dr. David H. Sarne, currently Clinical Associate in the Department of Medicine at the University of Chicago.

The Distinguished Service Award recognizes an ATA member who has made important and continuing contributions to the Association. The award will be conferred during the Presentation of Awards, beginning at 4:00 pm on October 4 during the ATA Annual Meeting, held this year from October 3 to 7 in Washington, DC.

Dr. Sarne received his MD with honors from the University of Michigan Medical School, after receiving his BS with highest distinction in Psychology and Zoology from the University of Michigan. He spent his internship and residency with the University of California Hospitals and Clinics in San Francisco and then became a Fellow in the Section of Endocrinology, Department of Medicine, at the University of Chicago. After three years as an Assistant Professor of Medicine at the University of Chicago, he moved to the University of Illinois Medical Center, where he rose to Professor. In 2012 he returned to the University of Chicago in his current position.

He has specialized in thyroid disorders, including hyperthyroidism, nodules, and thyroid cancer. As such, he has received regular funding for research efforts and has been an invited speaker at universities, association meetings, and conferences. Dr. Sarne has been the primary or a significant contributor to over 50 articles, book chapters, and other publications and has served as a manuscript reviewer for numerous medical journals, including JAMA, the New England Journal of Medicine, Thyroid, and Endocrinology, among others. He has repeatedly been named one of the "Best Doctors in America" and received scholarships, prizes, and awards throughout his academic and practice years.

Most important for the Distinguished Service Award, Dr. Sarne served on a variety of committees for the ATA between 1987 and 2017, including the Education Committee, the Distinguished Service Committee, the Awards Committee, the Annual Meeting Organizing Committee, and the Finance and Audit Committee—for the last of which he was Chair for 13 years. And he has twice served on the ATA's Board of Directors as Treasurer and member of the Executive Committee, first for a period of 7 years and most recently for 2 more years.

Dr. Sarne's tremendous commitment of time and energy to the Association over the past 30 years has helped to maintain our successful operation, particularly our financial health and stability. That commitment, combined with his dedication to his patients and students, makes him a very worthy recipient for the highly sought after and prestigious Distinguished Service Award.

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The American Thyroid Association (ATA) is the leading worldwide organization dedicated to the advancement, understanding, prevention, diagnosis, and treatment of thyroid disorders and thyroid cancer. ATA is an international membership medical society with over 1,700 members from 70 countries around the world. Celebrating its 95^th anniversary, the ATA delivers its mission of being devoted to thyroid biology and to the prevention and treatment of thyroid disease through excellence in research, clinical care, education, and public health. 

These efforts are carried out via several key endeavors:

• The publication of the highly regarded professional journals Thyroid^®, Clinical Thyroidology^®, and VideoEndocrinology
• Annual scientific meetings
• Biennial clinical and research symposia
• Research grant programs for young investigators
• Support of online professional, public, and patient educational programs
• Development of guidelines for clinical management of thyroid disease and thyroid cancer

 Further information about the ATA^® annual meeting can be found https://www.thyroid.org/88th-annual-meeting-ata/ and research grants program https://www.thyroid.org/media-main/ and patient information https://www.thyroid.org/thyroid-information/.  The ATA promotes thyroid awareness and information online through Clinical Thyroidology^® for the Public and extensive, authoritative explanations of thyroid disease and thyroid cancer in both English and Spanish. The ATA website serves as the clinical resource for patients and the public who look for reliable information on the Internet. Every fifth year, the American Thyroid Association joins with the Latin American Thyroid Society, the European Thyroid Association, and the Asia and Oceania Thyroid Association to cosponsor the International Thyroid Congress (ITC).

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2018 John B. Stanbury Thyroid Pathophysiology Medal to Be Awarded to Marvin C. Gershengorn, MD, at American Thyroid Association’s Annual Meeting

October 1, 2018—The American Thyroid Association (ATA) announces with pleasure that the 2018 John B. Stanbury Thyroid Pathophysiology Medal will be awarded to Dr. Marvin C. Gershengorn at the ATA Annual Meeting this week. Dr. Gershengorn is Chief of the Clinical Endocrinology Branch (formerly the Laboratory of Endocrinology and Receptor Biology) at the National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK), National Institutes of Health, Bethesda, Maryland.

The Stanbury Medal recognizes outstanding research contributions, either conceptual or technical, to the understanding of thyroid physiology or the pathophysiology of thyroid disease, that have had a major impact on research or clinical practice. The medal is traditionally conferred at the ATA Annual Meeting, held this year from October 3 to 7 in Washington, DC.

Dr. Gershengorn received his MD with honors in Biochemistry in 1971 from New York University School of Medicine after completing his BS magna cum laude at City College of the City University of New York (CUNY). He completed his internship and residency in Medicine at Strong Memorial Hospital of the University of Rochester School of Medicine and Dentistry. He became a Clinical Associate in the Clinical Endocrinology Branch of the National Institute of Arthritis, Metabolism, and Digestive Diseases at NIH, then returned to the NYU School of Medicine as Assistant Professor, then Director of the Honors Program, Associate Professor of Medicine, and Associate Professor in the Graduate School of Arts and Sciences. Moving to Cornell University Medical College and the New York Hospital, he was appointed in turn Professor of Medicine and Chief of the Division of Endocrinology and Metabolism, Professor of Physiology and Biophysics, the Abby Rockefeller Mauze Distinguished Professor of Endocrinology in Medicine, Professor of Cell Biology and Genetics, Professor of Medicine and Director of the Division of Molecular Medicine, and Director of the Molecular Medicine Training Program. At Weill Graduate School of Medical Sciences of Cornell University, Dr. Gershengorn was appointed Chair of the Program in Physiology, Biophysics, and Molecular Medicine. He joined the NIDDK in 2001 as Director of the Division of Intramural Research (Scientific Director) before his current appointment in 2008.

During his various research positions, Dr. Gershengorn has made groundbreaking scientific contributions that have increased our understanding of thyroid physiology, from the development of the first assays to measure T3 in human serum, to using lithium as an adjunct to radioiodine therapy in thyroid cancer, to fine-needle aspiration biopsy for the diagnosing thyroid nodules, to determining the gene sequence of the TRH receptor, among many others. His laboratory has been the leader in developing small-molecule, drug-like compounds that target the TSH receptors of the thyroid.

Dr. Gershengorn has received numerous awards, honors, and fellowships during his career, including both the Van Meter Award and the Sidney Ingbar Distinguished Lectureship for Outstanding Thyroid Research from the ATA, two awards from the Endocrine Society, and the NIDDK Director's Award for Translational Research. He has served on the editorial boards of journals dedicated to endocrinology, biological chemistry, and physiology and on advisory boards, review committees, and as a board director. From 1999 to 2001, Dr. Gershengorn was a Director of the ATA Board.

In addition to holding five patents, Dr. Gershengorn has shared in writing 280 journal articles since 1968.

His four decades of very productive research, teaching, writing, and continuous contributions to our understanding of the pathophysiology of thyroid disease make Dr. Gershengorn an extremely appropriate recipient of the 2018 John B. Stanbury Pathophysiology Medal.

 ###

The American Thyroid Association (ATA) is the leading worldwide organization dedicated to the advancement, understanding, prevention, diagnosis, and treatment of thyroid disorders and thyroid cancer. ATA is an international membership medical society with over 1,700 members from 43 countries around the world. Celebrating its 95^th anniversary, the ATA continues to deliver its mission of being devoted to thyroid biology and to the prevention and treatment of thyroid disease through excellence in research, clinical care, education, and public health.  These efforts are carried out via several key endeavors:

•  The publication of the highly regarded professional journals Thyroid^®, Clinical Thyroidology^®, and VideoEndocrinology
• Annual scientific meetings
  
• Biennial clinical and research symposia
• Research grant programs for young investigators
• Support of online professional, public, and patient educational programs
  
• Development of guidelines for clinical management of thyroid disease and thyroid cancer

 The ATA promotes thyroid awareness and information online through Clinical Thyroidology for the Public and extensive, authoritative explanations of thyroid disease and thyroid cancer in both English and Spanish. The ATA website serves as the clinical resource for patients and the public who look for reliable information on the Internet. Every fifth year, the American Thyroid Association joins with the Latin American Thyroid Society, the European Thyroid Association, and the Asia and Oceania Thyroid Association to cosponsor the International Thyroid Congress (ITC).

The post 2018 John B. Stanbury Thyroid Pathophysiology Medal to Be Awarded to Marvin C. Gershengorn, MD, at American Thyroid Association's Annual Meeting appeared first on American Thyroid Association.

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Erratum zu: Monolokuläres Erythema elevatum et diutinum am Handrücken

Erratum zu:

Hautarzt 2018, Suppl 1

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Sehr geehrte Leserin, sehr geehrter Leser,

im oben genannten Beitrag ist es leider zu einem Fehler im Titel gekommen. Wir bitten Sie, den aktualisierten Beitragstitel zu berücksichtigen und den Fehler zu …

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Phenotyping and long-term follow up of patients with hyper IgE syndrome

Publication date: Available online 29 September 2018

Source: Allergologia et Immunopathologia

Author(s): S. Alyasin, H. Esmaeilzadeh, N. Ebrahimi, S.H. Nabavizadeh, S. Kashef, E. Esmaeilzadeh, M. Babaei, R. Amin

Abstract

Introduction and objectives

Long-term follow up of patients with hyper IgE syndrome (HIES), as a primary immunodeficiency disorder, has been poorly investigated. This study describes common clinical and immunological features of patients with HIES in the last 10 years in Shiraz University of Medical Sciences, Shiraz, Iran.

Methods and patients

In this cross-sectional study, the symptoms and medical records of 18 patients, who were diagnosed with HIES, were observed. Genetic and immunologic study was also performed.

Results

Eighteen patients with the mean age of 13 years old were investigated. Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES). So, 14 patients with known genetic results were considered for further data analysis. Food allergy, eczema, viral and skin infections were the major complications of AR-HIES patients. The major clinical complications of AD-HIES patients were pneumonia, skin infections and eczema. Food allergy and viral infection were significantly higher in DOCK8 deficient patients. The most common causes of hospitalization in both AR-HIES and AD-HIES patients were pneumonia, skin infections and sepsis. The most common cause of death was found to be sepsis.

Conclusions

AD-HIES and AR-HIES cannot be differentiated only based on the clinical presentations. Genetic features are also necessary for better diagnosis. This study, summarizing the clinical, immunological and genetic information of the patients with AD-HIES and AR-HIES, may open a way for better diagnosis and management of HIES.

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Immune response and evasion mechanisms in lip carcinogenesis: an immunohistochemical study

Publication date: Available online 29 September 2018

Source: Archives of Oral Biology

Author(s): Maria Luiza Diniz de Sousa Lopes, Amanda Katarinny Goes Gonzaga, Carla Mosconi, Gustavo Martelli Palomino, Elismauro Francisco Mendonça, Aline Carvalho Batista, Éricka Janine Dantas da Silveira

Abstract

Objectives

Programmed death ligand-1 (PD-L1) and human leukocyte antigen-G (HLA-G) are considered immune checkpoint molecules that inhibit T-cell effectiveness, contributing to tumor immune escape. This study investigated PD-L1, HLA-G, CD8, and granzyme B (GrB) expression at different stages of lip carcinogenesis.

Design and results

Forty cases of lip squamous cell carcinoma (LSCC), 55 actinic cheilitis (AC), and 10 healthy lip mucosa (HLM) were submitted to immunohistochemistry. Semiquantitative (PD-L1, HLA-G), and quantitative (CD8, GrB) analysis were performed. PD-L1 and HLA-G expression in neoplastic cells/keratinocytes and stroma/connective tissue was significantly higher in LSCC and AC, compared to HLM (p<0.05). PD-L1 was not associated with clinicopathological features of the lesions. HLA-G expression by malignant cells was significantly higher in LSCCs with distant metastasis (p = 0.041).CD8⁺ and GrB⁺ cell numbers progressively increased from HLMs to LSCC, with AC exhibiting intermediate numbers (p<0.01). Most LSCCs showed coexistence of PD-L1⁺ and CD8⁺ cells (72.5%). PD-L1 was directly correlated to CD8⁺ and GrB⁺ lymphocytic infiltration in LSCCs (p<0.05). Low cytotoxic immune response was associated with lymph node metastasis in LSCC (p<0.05).

Conclusions

PD-L1 and HLA-G-mediated immune evasion mechanisms are likely to occur from early pre-malignant to advanced malignant stages of lip carcinogenesis, which might provide a rationale for therapeutic blockade of these pathways. PD-L1 expression in LSCCs was correlated with the cytotoxic markers, suggesting that that PD-L1 may appear as an escape mechanism in response to an active antitumor response.

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December 2018

Publication date: Available online 29 September 2018

Source: Annals of Allergy, Asthma & Immunology

Author(s): Vivian Hernandez-Trujillo, John J. Oppenheimer, David A. Khan

https://ift.tt/2DI4V5U

Individual Reliability of the Standard Clinical Method vs Patient-Centered Tinnitus Likeness Rating for Assessment of Tinnitus Pitch and Loudness Matching.

Related Articles

Individual Reliability of the Standard Clinical Method vs Patient-Centered Tinnitus Likeness Rating for Assessment of Tinnitus Pitch and Loudness Matching.

JAMA Otolaryngol Head Neck Surg. 2018 Sep 27;:

Authors: Hébert S

Abstract
Importance: Current individualized sound therapies for tinnitus rely on tinnitus pitch assessment, which is commonly derived from the standard clinical 2-alternative forced-choice (2-AFC) approach driven by the examiner. However, this method is limited by lack of individual test-retest reliability and focuses on a single rather than multiple tinnitus frequencies.
Objective: To assess individual test-retest reliability of the 2-AFC, with a single final frequency (and corresponding loudness), and the tinnitus likeness rating (TLR), with the participant exposed to the entire audible frequency spectrum, from which 3 dominant frequencies and corresponding loudness were extracted.
Design, Setting, and Participants: In this case series, participants with tinnitus underwent testing twice with both methods at a 1-month interval by experienced clinicians from January 6 through March 17, 2017. Each clinician tested each patient only once at visit 1 or 2 in a university audiology training setting with standardized equipment and was blind to previous assessment. Participants with bilateral or unilateral chronic tinnitus for longer than 6 months, in good health, without total deafness in either ear, and without cerumen in the ear canal were recruited through advertisements (community and clinics) and word of mouth (volunteer sample). The audiologists were likewise participants in the planned comparison between TLR and 2-AFC in the test-retest measures.
Main Outcomes and Measures: Test-retest concordance with 95% CIs for each method, calculated as the proportion of participants with the same final frequency between the 2 visits (2-AFC) or with at least 1 concordant dominant frequency (TLR) as well as loudness differences of no greater than 10 dB.
Results: The study sample included 31 participants (55% men; mean [SD] age, 50.7 [13.7] years). For TLR, 26 of 31 participants had at least 1 concordant dominant frequency between the 2 visits (proportion, 0.84; 95% CI, 0.66-0.95), whereas for 2-AFC, 7 of 31 participants had a concordant final tinnitus pitch in either ear (proportion, 0.23; 95% CI, 0.10-0.41). Loudness reliability followed the same pattern, with more concordant loudness levels in the TLR (proportion, 0.73; 95% CI, 0.52-0.88) than in the 2-AFC (proportion, 0.40; 95% CI, 0.05-0.85). Mean time taken to complete the tests was less than 15 minutes, and general appreciation by participants with tinnitus and audiologists were overall similar for both.
Conclusions and Relevance: Superior test-retest concordance can be demonstrated at the individual level using the several dominant frequencies extracted from the patient-centered TLR.

PMID: 30267085 [PubMed - as supplied by publisher]

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Understanding Risk Factors Associated With Unplanned Reoperation in Major Head and Neck Surgery.

Related Articles

Understanding Risk Factors Associated With Unplanned Reoperation in Major Head and Neck Surgery.

JAMA Otolaryngol Head Neck Surg. 2018 Sep 27;:

Authors: Sangal NR, Nishimori K, Zhao E, Siddiqui SH, Baredes S, Chan Woo Park R

Abstract
Importance: Understanding the preoperative, intraoperative, and postoperative risk factors of reoperation is the optimal way to approach decreasing its incidence.
Objective: To identify risk factors of unplanned reoperation following major operations of the head and neck.
Design, Setting, and Participants: This retrospective cohort study queried the American College of Surgeons National Surgical Quality Improvement Program database and identified 2475 cases of major operations of the head and neck performed between 2005 and 2014. Specific operations analyzed were glossectomy, mandibulectomy, laryngectomy, and pharyngectomy. Univariate and multivariate analyses were performed to compare demographic and clinical characteristics of patients with or without unplanned reoperation. Data were analyzed between September and November 2017.
Main Outcomes and Measures: The primary outcome was incidence of unplanned reoperation in patients with major operations in the head and neck region. An additional aim was to assess the risk factors associated with an increased likelihood of reoperation.
Results: In total, 1941 patients were included in this study (1298 [66.9%] males), with most patients (961 [49.5%]) between 61 and 80 years of age. The overall unplanned reoperation rate within 30 days after the principal operative procedure was 14.2% (275 patients). The operative procedure with the highest reoperation rate was pharyngectomy (8 of 46 [17.4%]), followed by glossectomy (95 of 632 [15.0%]), laryngectomy (53 of 399 [13.3%]), and mandibulectomy (25 of 240 [10.4%]). Among the unplanned reoperation patients, 516 patients (76.8%) underwent reoperation during their initial hospital admission and 156 patients (23.2%) after readmission. The mean (SD) number of days from the principal operative procedure to unplanned reoperation was 8.5 (3.6) days for initial-admission reoperations and 16.0 (4.8) days for readmission reoperations. The most common unplanned reoperation procedures overall included repair, surgical exploration, and revision procedures on arteries and veins (47 of 2475 [1.9%]), incision procedures on the soft tissue of the neck and thorax (37 of 1941 [1.9%]), and incision and drainage procedures on the skin, subcutaneous, and accessory structures (21 of 1941 [1.1%]). Multivariate analysis results indicated that the independent risk factors for unplanned reoperation following a major cancer operation of the head or neck included black race (odds ratio [OR], 1.72; 95% CI, 1.09-2.74), disseminated cancer (OR, 1.85; 95% CI, 1.14-3.00), greater total operation time (OR, 2.05; 95% CI, 1.49-2.82), superficial (OR, 2.56; 95% CI, 1.55-4.24) or deep (OR, 4.83; 95% CI, 2.60-8.95) surgical site infection, wound dehiscence (OR, 8.36; 95% CI, 5.10-13.69), and ventilator dependence up to 48 hours after surgery (OR, 2.95; 95% CI, 1.79-4.87).
Conclusions and Relevance: The identification of a significant association of black race, disseminated cancer, total operation time, surgical site infection in either the superficial or deep spaces, wound dehiscence, or ventilator dependence for more than 48 hours after surgery with increased risk of reoperation in major head and neck surgery may guide the modification and adaptation of these risk factors to decrease the burden that unplanned reoperation places on patients, surgeons, and the health care system.

PMID: 30267078 [PubMed - as supplied by publisher]

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Patient Concerns About Nasal Reconstruction After Mohs Surgery and Implications for Shared Decision Making.

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Patient Concerns About Nasal Reconstruction After Mohs Surgery and Implications for Shared Decision Making.

JAMA Otolaryngol Head Neck Surg. 2018 Sep 27;:

Authors: Chi JJ, Rosenberg A, Hahn S, Piccirillo JF, Politi M, Kallogjeri D, Kukuljan S

PMID: 30267057 [PubMed - as supplied by publisher]

https://ift.tt/2QozH5p

Rapidly Enlarging Parapharyngeal Mass.

Related Articles

Rapidly Enlarging Parapharyngeal Mass.

JAMA Otolaryngol Head Neck Surg. 2018 Sep 27;:

Authors: Kim-Orden N, Chambers T, Sinha U

PMID: 30267038 [PubMed - as supplied by publisher]

https://ift.tt/2zGaQ7l

Addition of Hyperbaric Oxygen Therapy vs Medical Therapy Alone for Idiopathic Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.

Related Articles

Addition of Hyperbaric Oxygen Therapy vs Medical Therapy Alone for Idiopathic Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis.

JAMA Otolaryngol Head Neck Surg. 2018 Sep 27;:

Authors: Rhee TM, Hwang D, Lee JS, Park J, Lee JM

Abstract
Importance: Sudden sensorineural hearing loss (SSNHL) causes substantial disease burden for both individuals and socioeconomic aspects. The benefit of hyperbaric oxygen therapy (HBOT) in addition to standard medical therapy (MT) for idiopathic SSNHL has been unclear.
Objective: To perform a systematic review and meta-analysis to compare HBOT + MT with MT alone as a treatment for patients with SSNHL.
Data Sources: PubMed, Embase, and the Cochrane Database of Systematic Reviews were systematically searched up to February 2018.
Study Selection: Randomized clinical trials and nonrandomized studies comparing HBOT + MT with MT alone for SSNHL treatment.
Data Extraction and Synthesis: Two investigators independently screened the eligible studies, established data, and assessed quality and risk of bias. A systematic review and meta-analysis using random-effects models was conducted.
Main Outcomes and Measures: The primary outcome was complete hearing recovery, and secondary outcomes were any hearing recovery and absolute hearing gain.
Results: Three randomized clinical trials and 16 nonrandomized studies comparing outcomes after HBOT + MT vs MT alone in 2401 patients with SSNHL (mean age, 45.4 years; 55.3% female) were included. Pooled odds ratios (ORs) for complete hearing recovery and any hearing recovery were significantly higher in the HBOT + MT group than in the MT alone group (complete hearing recovery OR, 1.61; 95% CI, 1.05-2.44 and any hearing recovery OR, 1.43; 95% CI, 1.20-1.67). Absolute hearing gain was also significantly greater in the HBOT + MT group than in the MT alone group. The benefit of HBOT was greater in groups with severe to profound hearing loss at baseline, HBOT as a salvage treatment, and a total HBOT duration of at least 1200 minutes.
Conclusions and Relevance: The addition of HBOT to standard MT is a reasonable treatment option for SSNHL, particularly for those patients with severe to profound hearing loss at baseline and those who undergo HBOT as a salvage treatment with a prolonged duration. Optimal criteria for patient selection and a standardized regimen for HBOT should be applied in routine practice, with future trials to investigate maximal treatment benefit.

PMID: 30267033 [PubMed - as supplied by publisher]

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Sensitization to Api m 1, Api m 2, and Api m 4 in Japanese beekeepers who had experienced systemic reactions to honeybee stings

Publication date: Available online 29 September 2018

Source: Allergology International

Author(s): Hirokuni Hirata, Kozo Sato, Takeshi Ogasawara, Tatsuo Funakoshi, Daisuke Shima, Masamitsu Tatewaki, Sadaaki Shiromori, Ryosuke Souma, Hideyuki Satoh, Kumiya Sugiyama, Masafumi Arima, Kazuhiro Kurasawa, Takeshi Fukuda, Yasutsugu Fukushima

https://ift.tt/2DIHxVY

Tight junction, mucin and inflammasome‐related molecules are differentially expressed in eosinophilic, mixed and neutrophilic experimental asthma in mice

Allergy, Volume 0, Issue ja, -Not available-.


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Abnormal Composition and Function of High Density Lipoproteins in Atopic Dermatitis Patients

Allergy, Volume 0, Issue ja, -Not available-.


https://ift.tt/2y1RkjM

The immunome of soybean allergy: Comprehensive identification and characterization of epitopes

Clinical &Experimental Allergy, Volume 0, Issue ja, -Not available-.


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Perioperative anaphylaxis — Time for a NAP… 6!

Clinical &Experimental Allergy, Volume 48, Issue 10, Page 1252-1254, October 2018.


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Issue Information

Clinical &Experimental Allergy, Volume 48, Issue 10, Page 1247-1249, October 2018.


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Forthcoming Meetings

Clinical &Experimental Allergy, Volume 48, Issue 10, Page 1371-1371, October 2018.


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Best of the Other Journals

Clinical &Experimental Allergy, Volume 48, Issue 10, Page 1372-1372, October 2018.


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The British Society of Allergy and Clinical Immunology annual meeting, 2018

Clinical &Experimental Allergy, Volume 48, Issue 10, Page 1250-1251, October 2018.


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Coexisting cutaneous macroglobulinosis and scleredema of Buschke in a patient with a Waldenström Macroglobulinemia

Journal of the European Academy of Dermatology and Venereology, Volume 0, Issue ja, -Not available-.


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The PROCLIPI international registry of early stage Mycosis Fungoides identifies substantial diagnostic delay in most patients

British Journal of Dermatology, Volume 0, Issue ja, -Not available-.


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Hepatocellular carcinoma presenting as spinal cord compression in Native Americans with controlled hepatitis C: two case reports

Hepatocellular carcinoma is a common malignancy in Asia. It is associated with chronic hepatitis B virus or hepatitis C virus infection and alcoholic hepatitis. Commonly, the tumor metastasizes to the lungs, r...

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Gute Arzthelferinnen an die Praxis binden

Qualifizierte Medizinische Fachangestellte zu finden, wird in vielen Regionen zunehmend schwieriger. Es gilt daher, gute Arzthelferinnen möglichst an die Praxis zu binden. Neben einer übertariflichen Entlohnung können steuerbegünstigte Zusatzleistungen infrage kommen.

https://ift.tt/2xJiCfm

Welche Allergietherapie eignet sich bei Long-QT-Syndrom?

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Jede Menge Information und Tipps für Ihr Praxisteam

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Der akute Schiefhals: Wann rasches Handeln gefragt ist

Zusammenfassung

Eine Schiefhaltung des Kopfes kann viele, zum Teil auch banale Ursachen haben. Ein plötzlich auftretender Torticollis sollte aber stets als Alarmzeichen gewertet werden, da er Ausdruck verschiedener bedrohlicher Erkrankungen sein kann, die einer raschen Therapie bedürfen.

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Praxisaufgaben übergeben — am besten gut strukturiert

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Von Malchus zum Schlitzohr

In zahlreichen mittelalterlichen Altären und Bildern ist die Szene von der Gefangennahme Jesu im Garten Gethsemane dargestellt. Dem armen Herrn Malchus wurde dabei von Petrus das rechte Ohr mit einem Schwertschlag abgetrennt. Aber Jesus heilte die Amputation der Ohrmuschel sofort. Anders erging es jenen Straftätern, bei denen bis zum 18. Jahrhundert Verstümmelungsstrafen gerichtlich angeordnet wurden.

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Qualitätsmanagement — zu oft noch Mauerblümchen im Praxisalltag

Die sektorenübergreifende Richtlinie zum Qualitätsmanagement des Gemeinsamen Bundesausschusses ist seit rund einem Jahr in Kraft. In vielen Praxen schlummert aber noch großes Optimierungspotenzial, sind sich Experten einig.

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Naturheilverfahren bei Infekten der oberen Atemwege

Behandlungen nach naturheilkundlichen Prinzipien erfreuen sich zunehmender Beliebtheit — aber erfüllt Naturheilkunde auch die Standards der modernen Medizin? Was sagen die Leitlinien und Cochrane Reviews zu Naturheilverfahren bei Infektionen der oberen Atemwege?

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Inhaltsverzeichnis

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Haben Sie auch eine fachliche Frage?

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Antirefluxtherapie schützt vor Ösophaguskarzinom

Die Behandlung der gastroösophagealen Refluxkrankheit kann die Patienten vor Krebs der Speiseröhre bewahren. Allerdings dauert es einige Jahre, bis das Inzidenzniveau der Allgemeinpopulation erreicht ist.

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Rechtsprobleme bei der Praxisverlegung

Der Vertragsarztsitz ist für den niedergelassenen Arzt von großer Bedeutung. Dieser, als konkreter, durch die Anschrift gekennzeichnete Ort der Praxis, hat Einfluss auf deren Frequentierung, die Zusammensetzung des Patientenstamms und die Erreichbarkeit der Praxis für den Arzt selbst.

https://ift.tt/2DRU0H1

Künstliche Intelligenz — schöne neue Welt in der Medizin?

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70 Jahre WHO — Kampf mit Höhen und Tiefen

Seit nunmehr sieben Dekaden setzt sich die Weltgesundheitsorganisation (WHO) mit ihren 194 Mitgliedstaaten dafür ein, dass allen Menschen das höchstmögliche Gesundheitsniveau zuteil wird. Der wohl größte Erfolg in diesen Jahren ist die Ausrottung der Pocken. Als nächstes Ziel soll die Welt poliofrei werden.

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SCIT auch bei Kindern sicher

Die subkutane Immuntherapie ist eine gut verträgliche Option mit vor allem lokalen Nebenwirkungen. Ob diese meist in Erwachsenenstudien gewonnenen Ergebnisse auch für Kinder gelten, wurde jetzt prospektiv untersucht.

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Blutungskomplikationen nach Tonsillektomie

Dass sich Operationsrisiken tatsächlich verwirklichen, ist gemessen an der Gesamtzahl von Eingriffen in Deutschland selten. Wenn es dazu kommt und die betroffenen Patienten Behandlungsfehler vermuten, können langjährige Auseinandersetzungen die Folge sein.

https://ift.tt/2DH3Kni

Hartnäckige Epistaxis: uni- oder bilaterale Ligatur der A. sphenopalatina?

Gegen behandlungsresistentes Nasenbluten kann eine Ligatur der Arteria sphenopalatina helfen. Dabei sind die Erfolgsraten offenbar höher, wenn dies bilateral geschieht.

https://ift.tt/2xJiBbi

Leukoplakie an den Stimmlippen — Dysplasie oder Biofilm?

Als Leukoplakie (wörtlich „weiße Fläche") gelten alle weißen, nicht abwischbaren Effloreszenzen der Schleimhaut. Traditionell hat dieser Begriff eine gewisse Alarmwirkung. Eine Leukoplakie wird reflexhaft oft gleichgesetzt mit dem Vorliegen einer Dysplasie, die histologisch abgeklärt oder zumindest engmaschig kontrolliert werden muss. Andererseits zeigen viele Studien, dass sich bei Leukoplakien der Stimmlippen nur in etwa der Hälfte der Fälle Dysplasien nachweisen lassen. Differenzialdiagnostische Überlegungen sind deshalb besonders wichtig.

https://ift.tt/2DH3F2Y

Immunmarker für klinische Insektengifttoleranz gesucht

Noch ist es schwierig, den Therapieerfolg einer insektengiftspezifischen Immuntherapie oder die klinische Relevanz einer Insektengiftsensibilisierung auf serologischer Ebene zu verifizieren. Eine Studie nahm IgE, IgG und Basophile ins Visier.

https://ift.tt/2xNkxQ1

Hält das „tailor-made notched music training“, was es verspricht?

Bis heute existiert keine wirksame Standardbehandlung für Tinnitus. Von sich reden machte in den letzten Jahren das sogenannte „tailor-made notched music training" (TMNMT), bei dem der Patient Musik hört, die im Bereich seiner individuellen Tinnitus-Frequenz so gefiltert ist, dass sie keine Signalanteile mehr enthält. Doch wie wirksam ist diese Methode wirklich?

https://ift.tt/2DH3C7i

December 2018

Vivian Hernandez-Trujillo, MD, Assistant Editor

https://ift.tt/2Ir2Qd9

Patient Safety and Quality Improvement: Driving to New Frontiers

Patient safety and quality improvement in health care, and specifically, in surgical specialties, is at a crossroads; the last decade has seen a myriad of initiatives resulting in order of magnitude improvements. The next decade will be challenging. Providers, hospitals, and organizations will need to "think differently" to drive toward zero harm.

https://ift.tt/2N9eIRP

Pathological risk factors stratification in pN3b oral cavity squamous cell carcinoma: Focus on the number of positive nodes and extranodal extension

Publication date: November 2018

Source: Oral Oncology, Volume 86

Author(s): Chun-Ta Liao, Li-Yu Lee, Chuen Hsueh, Chien-Yu Lin, Kang-Hsing Fan, Hung-Ming Wang, Chia-Hsun Hsieh, Shu-Hang Ng, Chih-Hung Lin, Chung-Kan Tsao, Chung-Jan Kang, Tuan-Jen Fang, Shiang-Fu Huang, Kai-Ping Chang, Lan Yan Yang, Tzu-Chen Yen

Abstract

Objective

According to the AJCC 2017 Staging Manual, oral cavity squamous cell carcinoma (OCSCC) with pN2 disease (based on the AJCC 2010 criteria) and extra-nodal extension (ENE) should be classified as pN3b. We performed a detailed outcome analyses in this patient subgroup.

Material and methods

We retrospectively reviewed the clinical records of consecutive OCSCC patients who underwent radical surgery between 1996 and 2017. Patients with pN3b disease (n = 365) were divided into a pN+ ≥8/ENE ≥5 subgroup (defined by the presence of pN+ ≥8 nodes or ENE ≥5 nodes, n = 77) and a pN+ ≤7/ENE ≤4 subgroup (defined by the presence of pN+ ≤7 nodes and ENE ≤4 nodes, n = 288). Patients with pN0/pN1/pN2 (n = 1192/179/197) disease were included for comparison purposes.

Results

Patients in the pN+ ≥8/ENE ≥5 subgroup had less favorable 5-year outcomes than those in the pN+ ≤7/ENE ≤4/pN2/pN1/pN0 groups (local control, 64%/79%/86%/83%/88%, p < 0.001; neck control, 55%/75%/80%/86%/93%, p < 0.001; distant metastases, 67%/28%/20%/12%/3%, p < 0.001; disease-free survival, 21%/51%/64%/72%/82%, p < 0.001; disease-specific survival, 25%/55%/71%/82%/92%, p < 0.001; overall survival, 19%/40%/54%/64%/82%, p < 0.001; respectively). Among patients with pN3b disease, multivariable analysis identified the pN+ ≥8/ENE ≥5 subgroup, lower neck (level IV/V) metastases, and depth of invasion ≥25 mm as independent adverse prognostic factors for 5-year distant metastases and survival rates.

Conclusions

Patients in the pN+ ≥8/ENE ≥5 subgroup have an unfavorable prognosis and their classification as pN3b is advisable. In contrast, patients in the pN+ ≤7/ENE ≤4 subgroup should be classified as pN3a.

https://ift.tt/2y1P8bS

18F-Choline-PET in parathyroid carcinoma

Publication date: Available online 28 September 2018

Source: Oral Oncology

Author(s): Grégoire B. Morand, Birgit M. Helmchen, Hans C. Steinert, Christoph Schmid, Martina A. Broglie

https://ift.tt/2NQtOkA

Nasal function before and after rapid maxillary expansion in children: A randomized, prospective, controlled study

Publication date: Available online 28 September 2018

Source: International Journal of Pediatric Otorhinolaryngology

Author(s): G. Ottaviano, P. Maculan, G. Borghetto, V. Favero, B. Galletti, E. Savietto, B. Scarpa, A. Martini, E. Stellini, C. De Filippis, L. Favero

Abstract

Objectives

Children can well detect and respond to odours in order to have information about food and environment.

Rapid Maxillary Expansion seems to improve dental and skeletal crossbite and increase nasal patency correcting oral respiration in children. A previous pilot study suggested that Rapid Maxillary Expansion may lead to improved N-Butanol olfactory thresholds, and peak nasal inspiratory flow values (PNIF). The aim of the present study was to prospectively evaluate olfactory threshold, nasal flows and nasal resistances in children aged from 6 to 11 years before and after Rapid Maxillary Expansion, comparing treated children with a control group of similar age, growth stage (prepubertal) and transversal skeletal deficiency.

Methods

N-butanol olfactory thresholds, anterior active rhinomanometry (AAR) and PNIF were measured in 11 children (6-11 years) before (T0), immediately and 6 months after Rapid Maxillary Expansion application (T1 and T2 respectively), and in a control group of 11 children (6-11 years) whose members remained under observation for the period of the study.

Results

Considering the study group, PNIF values improved at T1 respect to the T0 values (p=0.003), while T2 values were significantly higher than T0 ones (p=0.0002). N-Butanol Olfactory Threshold significantly improved at each control (p=0.01, p=0,01 and p=0.0003, for T1 vs T0, T2 vs T1, T2 vs T0 respectively). No differences on AAR values were found during the six months follow-up in this group.

Considering the control group, no significant differences were found for any of the considered variables during the time of the study.

Comparing the two groups, there was a significant increase of PNIF values in the study group compared to the control group (p=0.003) at T1, which was even more evident six months after Rapid Maxillary Expansion (p=0.0005). This improvement was not shown by AAR values. N-Butanol Olfactory Threshold showed a significant improvement at T2 respect to T1 (p=0.002) and T0 (p=0.0005).

Conclusion

Rapid Maxillary Expansion seems to significantly improve the respiratory capacity of treated patients, at least in terms of PNIF, and their olfactory function, measured by N-Butanol Olfactory Threshold Test. Further studies should be performed to evaluate if also changes in nasal resistances, measured by AAR, could occur, maybe considering a larger group of subjects and possibly using 4-phase rhinomanometry in order to evaluate the effective resistances during the entire breath.

https://ift.tt/2ItE5xa

Chemical composition of Pistacia vera L. oleoresin and its antibacterial, anti-virulence and anti-biofilm activities against oral streptococci, including Streptococcus mutans

Publication date: Available online 28 September 2018

Source: Archives of Oral Biology

Author(s): Gloria Magi, Emanuela Marini, Andrea Brenciani, Silvia Di Lodovico, Davide Gentile, Giuseppe Ruberto, Luigina Cellini, Antonia Nostro, Bruna Facinelli, Edoardo Napoli

Abstract

Objective

The aim of this study was to characterise the chemical composition of oleoresin of Pistacia vera L. and to determine its antimicrobial and anti-virulence activity versus selected oral streptococci.

Design

A gaschromatografic analysis of the oleoresin was performed. The antimicrobial and anti-virulence activity of the oleoresin and its fractions was evaluated by the Minimum Inhibitory Concentration (MIC) and/or Minimum Bactericidal Concentration (MBC), biofilm production and haemolytic activity inhibition experiments.

Results

The oleoresin MBCs were ≥1024 μg/mL for all tested strains; the neutral and acidic fraction MBCs ranged from 128 to 2048 μg/mL. Essential oil's MBCs (from 256 to 2048 μg/mL) were almost identical to MICs, suggesting a bactericidal effect.P. vera oleoresin at sub-lethal concentrations significantly reduced biofilm production by Streptococcus mutans (up to 49.4%) and by Streptococcus sanguinis (up to 71.2%). In addition, the acidic fraction showed a specific anti-biofilm activity against S. mutans (up to 41.3% reduction). A significant dose-dependent reduction in the haemolytic activity of S. mutans (up to 65.9%) and of S. anginosus (up to 78.3%) was observed after growth in the presence of oleoresin at sub-lethal concentrations. The acidic fraction reduced haemolytic activity (up to 54.3% at 64 µg/mL) of S. mutans only.

Conclusions

Given the anti-virulence activity of theP. vera oleoresin and its acidic fraction against S. mutans, our findings suggest their potential use in oral hygiene. These data represent the first step in the exploitation of P. vera L. oleoresin.

https://ift.tt/2NQ6q6D

The rise and fall of the alveolar process: Dependency of teeth and metabolic aspects

Publication date: Available online 28 September 2018

Source: Archives of Oral Biology

Author(s): Grethe Jonasson, Ingmarie Skoglund, Marianne Rythén

Abstract

The alveolar bone has a unique capacity to follow the teeth's movements. It is formed around erupting teeth and their periodontal ligaments: the more the teeth have erupted, the larger the alveolar process. Throughout life the teeth erupt and migrate in an occlusal and mesial direction to compensate for attrition, an evolutionary trait. After tooth extraction, the alveolar process is resorbed to varying degrees. The mandibular alveolar bone mirrors skeletal bone condition. Due to fast bone turnover (which is the fastest in the whole skeleton), low bone mass and increased fracture risk may first be seen here. If a periapical radiograph of the mandibular premolars shows a dense trabeculation with well-mineralized trabeculae and small intertrabecular spaces, it is a reliable sign of normal skeletal bone density (BMD) and low skeletal fracture risk, whereas a sparse trabecular pattern indicates osteopenia and high fracture risk. The bone turnover rate in the mandible is twice that of the maxilla, and may, hypothetically, play a role in the development of osteonecrosis of the jaw (ONJ), which has been found mainly in the mandibular alveolar process?

https://ift.tt/2xV7RWC

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

Publication date: Available online 29 September 2018

Source: Journal of Allergy and Clinical Immunology

Author(s): Anna Mensa-Vilaró, María Bravo García-Morato, Oscar de la Calle-Martin, Clara Franco-Jarava, María Teresa Martínez-Saavedra, Luis I. González-Granado, Eva González-Roca, Jose Luis Fuster, Laia Alsina, Osvaldo M. Mutchinick, Angélica Balderrama-Rodríguez, Eduardo Ramos, Consuelo Modesto, Pablo Mesa-del-Castillo, Norberto Ortego-Centeno, Daniel Clemente, Alejandro Souto, Natalia Palmou, Agustín Remesal, Kieron S. Leslie

Abstract

Background

Post-zygotic de novo mutations lead to the phenomenon of gene mosaicism. The three main types are called somatic, gonadal and gonosomal mosaicism, which differ on the body distribution of post-zygotic mutations. Mosaicism has been occasionally reported in primary immunodeficiency diseases (PID) since early 90s, but its real involvement has not been systematically addressed.

Objective

To investigate the incidence of gene mosaicism in PID.

Methods

The amplicon-based deep sequencing method was employed in the three parts of the study that establish the allele frequency of germline variants (n:100), the incidence of parental gonosomal mosaicism in PID families with de novo mutations (n:92) and the incidence of mosaicism in PID families with moderate-to-high suspicious (n:36), respectively. Additional investigations evaluated body distribution of post-zygotic mutations, their stability over time and their characteristics.

Results

The range of allele frequency 44.1-55.6% was established for germline variants. Those with minor allele frequency (MAF) <44.1% were assumed as post-zygotic. Mosaicism was detected in 30/128 (23.4%) PID families, with variable MAF (0.8-40.5%). Parental gonosomal mosaicism was detected in 6/92 (6.5%) families with de novo mutations, whereas a high incidence of mosaicism (63.9%) was detected among families with moderate-to-high suspicious. In most analyzed cases, mosaicism was found both uniformly distributed and stable over time.

Conclusion

This study represents the largest one performed to date to investigate mosaicism in PID, revealing that it affects ≈25% of enrolled families. Our results may have serious consequences regarding patients' treatment and genetic counseling, and reinforce the use of NGS-based methods in the routine analyses of PID.

Graphical abstract

https://ift.tt/2Qi5VPt

ARIA Phase 4 (2018): Change management in allergic rhinitis and asthma multimorbidity using mobile technology

Publication date: Available online 29 September 2018

Source: Journal of Allergy and Clinical Immunology

Author(s): Jean Bousquet, Peter W. Hellings, Ioana Agache, Flore Amat, Isabella Annesi-Maesano, Ignacio J. Ansotegui, Josep M. Anto, Claus Bachert, Eric D. Bateman, Anna Bedbrook, Kazi Bennoor, Mickael Bewick, Carsten Bindslev-Jensen, Sinthia Bosnic-Anticevich, Isabelle Bosse, Jan Brozek, Luisa Brussino, Giorgio W. Canonica, Victoria Cardona, Thomas Casale

Abstract

Allergic Rhinitis and its Impact on Asthma (ARIA) has evolved from a guideline using the best approach to integrated care pathways (ICPs) using mobile technology in AR and asthma multimorbidity. The proposed next phase of ARIA is Change Management (CM) with the aim of providing an active and healthy life to rhinitis sufferers and to those with asthma multimorbidity across the life cycle whatever their gender or socio-economic status in order to reduce health and social inequities incurred by the disease. ARIA has followed the 8-step model of Kotter to assess and implement the impact of rhinitis on asthma multimorbidity and to propose multimorbid guidelines. A second change management strategy is proposed by ARIA Phase 4 to increase self-medication and shared decision making in rhinitis and asthma multimorbidity. An innovation of ARIA has been the development and validation of IT evidence-based tools (MASK: Mobile Airways Sentinel Network) that can inform patient decisions on the basis of a self-care plan proposed by the health care professional.

https://ift.tt/2xL1Xbd

Oral microbiota maturation during the first 7 years of life in relation to allergy development

Allergy, EarlyView.


https://ift.tt/2xLZ6yV

Diagnosing microscopic pancreatic neuroendocrine tumor using 68-Ga-DOTATATE PET/CT: case series

Abstract

Neuroendocrine tumors (NETs) are an uncommon diagnosis which often present asymptomatically or with vague symptoms. They can originate from many different organs such as the GI tract, lungs, pancreas and others. ⁶⁸Gallium DOTATATE positron emission topography/computed topography has been shown to be an effective imaging modality for diagnosing NET and evaluating management options for patients. Here, we present two cases of positive findings in the distal pancreas on the DOTATATE PET/CT scans without any morphological lesion found to be NET in a healthy 48-year-old male and 68-year-old male.

https://ift.tt/2DEGiHd

Adult ileocecal intussusception induced by adenomatous ileal polyp: case report and literature review

Abstract

Intussusception is a rare cause of bowel obstruction in adults, and has generally an organic etiology. However, adenomatous polyp of the small bowel is an uncommon etiology. Moreover, there's a great difference with childhood intussusception in its presentation, etiology and management. We describe herein a case of adult ileocecal intussusception due to an adenomatous ileal polyp with a preoperative diagnosis made on computed tomography. We performed a right hemicolectomy, without attempting to reduce the intussusception, and an end-to-end ileotransverse anastomosis. The pathological examination of the surgical specimen revealed an adenomatous polyp with a high grade dysplasia on the terminal ileum, being the cause of the ileocecal intussusception.

https://ift.tt/2Ooe4oa

Biliary obstruction secondary to migrated intra-duodenal gastric band: a case report

Abstract

Adjustable gastric banding (AGB) was a previously popular bariatric procedure, but adverse events such as erosion have surfaced as common complications. We present an interesting case of an AGB causing biliary obstruction after eroding into the stomach.

https://ift.tt/2DFYsZa

Spontaneous rupture of the urinary bladder due to bacterial cystitis

Abstract

We report a case of spontaneous rupture of the urinary bladder (SRUB) due to bacterial cystitis in a 76-year-old woman with chief complaint of abdominal pain a day before presentation. She had fever (38.0°C), and her systolic blood pressure dropped to 70 mmHg; she was referred to our hospital, where she was admitted with a diagnosis of ileus. However, her abdominal pain worsened the following day, and abdominal CT showed free air. Emergency laparotomy was performed for suspicion of digestive tract perforation, which revealed a small hole at the dome of the urinary bladder and another at the peritoneum. Suture repair was performed. We reviewed the abdominal CT on admission and noted that the perforation of the urinary bladder was present during admission, whereas that of the peritoneum occurred the following day. SRUB is rare, and bacterial cystitis rarely causes it; thus, accurate diagnosis and proper treatment are essential.

https://ift.tt/2OodVkC

Enlarging plaque on the sole

Clinical and Experimental Dermatology, EarlyView.


https://ift.tt/2zDwARt

Bullous pemphigoid in a 3‐month‐old infant after vaccination

Clinical and Experimental Dermatology, EarlyView.


https://ift.tt/2IoBg0d

Neutrophilic dermatosis associated with an NFKB2 mutation

Clinical and Experimental Dermatology, EarlyView.


https://ift.tt/2zEyfpN

Cutaneous features of Zika virus infection: a clinicopathological overview

Clinical and Experimental Dermatology, EarlyView.


https://ift.tt/2ItmlC4

First reported case of dermatofibrosarcoma in siblings

Clinical and Experimental Dermatology, EarlyView.


https://ift.tt/2zEcx57

Description of a new pigmentary demarcation line (Type I)

Clinical and Experimental Dermatology, EarlyView.


https://ift.tt/2IqfYPR

A Retrospective Study to Assess the Role of Using Fine Needle Aspiration Cytology and Frozen Section in the Diagnosis of Thyroid Swelling

Abstract

The most cost-effective test is fine needle aspiration cytology (FNAC). Many surgeons use intraoperative frozen section to confirm the FNAC findings and to guide the extent of thyroid surgery. Though it is a valuable tool in the diagnosis of the thyroid lesion and determining the extent of thyroid surgery, still in certain cases diagnosis can be incorrect or inconclusive, so histopathology of the excised specimen remains the most reliable test. The purpose of this study will be to compare the result attained by FNAC and frozen section of the thyroid to the final histopathological diagnosis, in order to establish their role in thyroid surgery today. A retrospective study with a total of 140 patients who underwent thyroid surgery at the ENT department, of a tertiary hospital in coastal Karnataka. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were calculated for FNAC and frozen section. The sensitivity, specificity, positive predictive rate, and negative predictive rate of frozen section was found to be 66.7%, 88.4%,76.6%, 82.4% respectively for detecting malignancy. This was found to be higher than the results of FNAC for the same which were 64.4%, 77.8%, 64.4%, 77.8% respectively. As the sensitivity of FNAC is similar to frozen section in detecting malignant cases, FNAC is a good tool for screening the patient for determining malignancy in thyroid, but frozen section is more specific in confirming the malignancy.

https://ift.tt/2R7wDvk

Two Cases of Lingual Arteriovenous Malformations with Comorbidities Treated by Glue Embolization: A Report with Review of Literature

Abstract

Arteriovenous malformations (AVMs) involving the tongue are uncommon lesions in the head and neck region. They present with bleeding that can be massive and life-threatening apart from debilitating symptoms of pain, ulcers, difficulty in phonation or swallowing. Various therapeutic approaches have been used in their management—surgery, endovascular embolization, radiation and ablation procedures like laser ablation. We report two patients—a 34 year-old man and 56 year-old female who presented with massive bleeding due to lingual AVM and had comorbidities as liver cirrhosis and chronic medical renal disease respectively, and treated with glue embolization, with a review of the literature.

https://ift.tt/2OYHjv5

Long Term Oncological Results of Transoral Laser Microsurgery for Early and Moderately Advanced Glottic Carcinoma in Primary and Salvage Settings

Abstract

The aim of the study is to document the long term oncological results of trans-oral laser microsurgery (TLM) for early and moderately advanced glottic cancer in primary and salvage settings. In this prospective cohort study 43 consecutive patients of glottic cancer (T1–30, T2–7, and selected T3 with mobile cords-6) were recruited. TLM was performed in these 35 primary and 8 previously treated cases. In our series, the local disease control rate with TLM was 90% (27/30) for T1 disease, 71.4% (5/7) for T2 cancer and 66.6% (4/6) for T3 lesions. The overall disease control rates after subsequent treatment for locoregional recurrences were 100% (30/30), 85.7% (6/7) and 83.3% (5/6) for T1, T2, and T3 glottic cancers respectively. The 5-years disease free survival rate for primary cases was 100% and 50% for salvage cases. The 5-years local disease control rate was 96.4% and 41.67% in primary and salvage TLM settings respectively. The 5-years laryngectomy free rates were 96.3% and 18.75% for primary and salvage cases respectively. TLM offers a minimally invasive and oncologically robust treatment option for early glottic cancer with an overall disease free survival of 100% at 5 years noted for primary untreated cases in this experience. TLM for post radiation salvage cases has however been disappointing and alternate larynx preserving option of open partial laryngectomy needs to be considered in this setting.

https://ift.tt/2R7hDO9