“I Fear for My Safety, but Want to Show Bravery for Others”: Violence and Discrimination Concerns Among Transgender and Gender-Nonconforming Individuals After the 2016 Presidential Election

Violence and Gender , Vol. 0, No. 0.


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Microbioma and probiotics: from gut to Mars

Bruno Acatauassú Paes Barreto
Braz J Otorhinolaryngol 2018;84:1-2

Texto Completo - PDF

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IV Brazilian Consensus on Rhinitis – an update on allergic rhinitis

Eulalia Sakano, Emanuel S.C. Sarinho, Alvaro A. Cruz, Antonio C. Pastorino, Edwin Tamashiro, Fábio Kuschnir, Fábio F.M. Castro, Fabrizio R. Romano, Gustavo F. Wandalsen, Herberto J. Chong‐Neto, João F. de Mello Jr., Luciana R. Silva, Maria Cândida Rizzo, Mônica A.M. Miyake, Nelson A. Rosário Filho, Norma de Paula M. Rubini, Olavo Mion, Paulo A. Camargos, Renato Roithmann, Ricardo N. Godinho, Shirley Shizue N. Pignatari, Tania Sih, Wilma T. Anselmo‐Lima, Dirceu Solé
Braz J Otorhinolaryngol 2018;84:3-14

Resumo - Texto Completo - PDF

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Cochlear implantation in autistic children with profound sensorineural hearing loss

Magdalena Lachowska, Agnieszka Pastuszka, Zuzanna Łukaszewicz‐Moszyńska, Lidia Mikołajewska, Kazimierz Niemczyk
Braz J Otorhinolaryngol 2018;84:15-9

Resumo - Texto Completo - PDF

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Temporal bone paragangliomas: 15 years experience

Mehmet Düzlü, Hakan Tutar, Recep Karamert, Furkan Karaloğlu, Muammer Melih Şahin, Mehmet Göcek, Mehmet Birol Uğur, Nebil Göksu
Braz J Otorhinolaryngol 2018;84:58-65

Resumo - Texto Completo - PDF

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Effectiveness of Otolith Repositioning Maneuvers and Vestibular Rehabilitation exercises in elderly people with Benign Paroxysmal Positional Vertigo: a systematic review

Karyna Figueiredo Ribeiro, Bruna Steffeni Oliveira, Raysa V. Freitas, Lidiane M. Ferreira, Nandini Deshpande, Ricardo O. Guerra
Braz J Otorhinolaryngol 2018;84:109-18

Resumo - Texto Completo - PDF

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Bayesian analysis of high‐resolution ultrasonography and guided fine needle aspiration cytology in diagnosis of palpable thyroid nodules

Niranjan Sahu, Rabindra Nath Padhy
Braz J Otorhinolaryngol 2018;84:20-7

Resumo - Texto Completo - PDF

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Intratympanic steroid injection and hyperbaric oxygen therapy for the treatment of refractory sudden hearing loss

Filiz Gülüstan, Zahide Mine Yazıcı, Wesam M.E. Alakhras, Omer Erdur, Harun Acipayam, Levent Kufeciler, Fatma Tulin Kayhan
Braz J Otorhinolaryngol 2018;84:28-33

Resumo - Texto Completo - PDF

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The seroprevalence of hepatitis B, hepatitis C, and human immunodeficiency virus in patients undergoing septoplasty

Ozlem Onerci Celebi, Ela Araz Server, Bahtiyar Hamit, Özgür Yiğit
Braz J Otorhinolaryngol 2018;84:34-9

Resumo - Texto Completo - PDF

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Correlation between acoustic rhinometry, computed rhinomanometry and cone‐beam computed tomography in mouth breathers with transverse maxillary deficiency

Raquel Harumi Uejima Satto Sakai, Fernando Augusto Lima Marson, Emerson Taro Inoue Sakuma, José Dirceu Ribeiro, Eulália Sakano
Braz J Otorhinolaryngol 2018;84:40-50

Resumo - Texto Completo - PDF

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Evaluation of peripheral auditory pathways and brainstem in obstructive sleep apnea

Erika Matsumura, Carla Gentile Matas, Fernanda Cristina Leite Magliaro, Raquel Meirelles Pedreño, Geraldo Lorenzi‐Filho, Seisse Gabriela Gandolfi Sanches, Renata Mota Mamede Carvallo
Braz J Otorhinolaryngol 2018;84:51-7

Resumo - Texto Completo - PDF

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Effect of hearing aids use on speech stimulus decoding through speech‐evoked ABR

Renata Aparecida Leite, Fernanda Cristina Leite Magliaro, Jeziela Cristina Raimundo, Mara Gândara, Sergio Garbi, Ricardo Ferreira Bento, Carla Gentile Matas
Braz J Otorhinolaryngol 2018;84:66-73

Resumo - Texto Completo - PDF

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Prognostic role of margin status in open and CO2 laser cordectomy for T1a–T1b glottic cancer

Vincenzo Landolfo, Carmine Fernando Gervasio, Giuseppe Riva, Massimiliano Garzaro, Rita Audisio, Giancarlo Pecorari, Roberto Albera
Braz J Otorhinolaryngol 2018;84:74-81

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Preclinical evaluation of Luffa operculata Cogn. and its main active principle in the treatment of bacterial rhinosinusitis

Leonardo Silva, Henrique Olival Costa, Flávia Coelho de Souza, Elaine Monteiro Cardoso Lopes, Suely Mitoi Ykko Ueda
Braz J Otorhinolaryngol 2018;84:82-8

Resumo - Texto Completo - PDF

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Volumetric evaluation of pharyngeal segments in obstructive sleep apnea patients

Marcos Marques Rodrigues, Valfrido Antonio Pereira Filho, Mário Francisco Real Gabrielli, Talles Fernando Medeiros de Oliveira, Júlio Américo Pereira Batatinha, Luis Augusto Passeri
Braz J Otorhinolaryngol 2018;84:89-94

Resumo - Texto Completo - PDF

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Simultaneous idiopathic bilateral sudden hearing loss – characteristics and response to treatment

Ferit Akil, Umur Yollu, Mehmet Yilmaz, H. Murat Yener, Marlen Mamanov, Ender Inci
Braz J Otorhinolaryngol 2018;84:95-101

Resumo - Texto Completo - PDF

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Osteonecrosis of the jaws: a review and update in etiology and treatment

Guilherme H. Ribeiro, Emanuely S. Chrun, Kamile L. Dutra, Filipe I. Daniel, Liliane J. Grando
Braz J Otorhinolaryngol 2018;84:102-8

Resumo - Texto Completo - PDF

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Aggressive osteoblastoma of the temporal bone: an unusual cause of facial palsy

Rashmi Dixit, Swati Gupta, Veena Chowdhury, Nita Khurana
Braz J Otorhinolaryngol 2018;84:119-21

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Middle turbinate angiofibroma: an unusual location for juvenile angiofibroma

Yuksel Toplu, Sermin Can, Mukadder Sanlı, Nurhan Sahin, Ahmet Kizilay
Braz J Otorhinolaryngol 2018;84:122-5

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Iatrogenic nasal vestibular stenosis after maxillofacial reconstructive surgery

Byung‐Woo Yoon, Dong‐Won Kim, Soo‐Jong Choi, Kyu‐Sup Cho
Braz J Otorhinolaryngol 2018;84:126-30

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Effects of exposure to 2100MHz GSM‐like radiofrequency electromagnetic field on auditory system of rats

Seyed Mohammad Javad Mortazavi, Seyed Ali Reza Mortazavi, Maryam Paknahad
Braz J Otorhinolaryngol 2018;84:131

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Influenza Virus: Dealing with a Drifting and Shifting Pathogen

Viral Immunology , Vol. 0, No. 0.


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Immunization with a Mixture of Nucleoprotein from Human Metapneumovirus and AbISCO-100 Adjuvant Reduces Viral Infection in Mice Model

Viral Immunology , Vol. 0, No. 0.


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Simple surgical solution: scaphoid type congenital megalourethra

Description

Congenital megalourethra (CM) is an uncommon paediatric urogenital problem with less than 80 reported cases1 and may go ignored for years. It is defined as dilatation and elongation of the penile urethra associated with the deficiency of the corpora cavernosa and/or spongiosum. It may be of scaphoid or fusiform variety. However, surgery in most cases may be challenging.

A 10-year-old boy presented with the complaint of a swelling appearing on the under-surface of the penis during voiding since birth. This persisted even after micturation and had to be milked out post voiding. His urinary stream was of good calibre and normal volume. There was no associated history of urinary tract infection or obstruction. External genital examination was normal with bilateral descended testes, stretched penile length=4.5 cm, normal prepuce and normally positioned urethral meatus. However, dilatation of the dorsal penile shaft was observed during micturation. A retrograde cum voiding...

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Perimesencephalic and sulcal subarachnoid haemorrhage: an interesting presentation of posterior reversible encephalopathy syndrome

Description

A 38-year-old man with hypertension presented with sudden-onset headache and vomiting. He was irritable and had a blood pressure of 180/120 mm Hg. There were no meningeal signs or focal neurological deficits. His optic fundi were normal. Initial evaluation with CT of the brain showed subarachnoid haemorrhage (SAH) in the right parasagittal sulcal region (figure 1A) and the left perimesencephalic cistern (figure 1B). A CT angiogram (CTA) followed by a digital subtraction angiogram (DSA) ruled out aneurysms (figure 1C–F). The venous phase of DSA (figure 1G) and magnetic resonance (MR) venogram (figure 1H,I) were normal. MRI of the brain (figure 2) showed hyperintense lesions in the bilateral parieto-occipital regions and the basal ganglia suggesting posterior reversible encephalopathy syndrome (PRES). He was managed with antihypertensives and made a gradual and complete recovery.

Figure 1

CT...

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Successful percutaneous drainage of pneumatoceles in an extremely low-birthweight infant

Pneumatoceles are thin-walled, air-filled cystic lesions developing within the lung parenchyma. It used to be a relatively common entity in the presurfactant era when preterm babies were ventilated at an unacceptably high positive pressure for respiratory distress syndrome. Pneumatocele formation is a very rare complication of pneumonia in neonates. We here report a case of extremely low-birthweight (ELBW) neonate who developed large bilateral pneumatoceles after staphylococcal pneumonia. Hereby, we present a case of an ELBW infant with bilateral massive pneumatoceles who underwent successful percutaneous catheter drainage to decompress these pneumatoceles.

http://ift.tt/2DGIe1n

Cryptococcal meningitis in a daily cannabis smoker without evidence of immunodeficiency

Cryptococcal meningitis is a life-threatening condition most commonly observed in immunocompromised individuals. We describe a daily cannabis smoker without evidence of immunodeficiency presenting with confirmed Cryptococcus neoformans meningitis. An investigation of cannabis samples from the patient's preferred dispensary demonstrated contamination with several varieties of Cryptococcus, including C. neoformans, and other opportunistic fungi. These findings raise concern regarding the safety of dispensary-grade cannabis, even in immunocompetent users.

http://ift.tt/2nfyujz

Hemiparesis in spontaneous spinal epidural haematoma: a potential stroke imitator

Spontaneous spinal epidural haematoma (SSEH) is a rare condition that requires urgent surgical intervention in order to prevent permanent neurological deficit. SSEH commonly presents as a paraparesis or tetraparesis. SSEH presenting as a hemiparesis is less common and in such situations, it can be mistaken for a cerebrovascular accident (CVA). Thrombolytic or anticoagulant treatment for CVA can potentially worsen the neurological deficit. We report one such case of SSEH misdiagnosed as a CVA. Treatment with tissue plasminogen activator led to worsening of his condition. On a subsequent cervical spine MRI, an epidural haematoma extending from C3 to C5 was detected and treated with laminectomy and evacuation. Surgical intervention led to significant improvement from American Spinal Injury Association Scale (ASIA) B to ASIA E. Presence of clinical features such as Horner's syndrome, Brown-Sequard syndrome and the absence of cranial nerve palsies in acute hemiparesis are indicative of SSEH rather than CVA.

http://ift.tt/2DFaIZm

Desmoplastic fibroblastoma of the left upper arm

An elderly female patient presented to the clinic with a several-week history of a mass in her left upper arm that was tender to the touch. The mass was initially thought to be a schwannoma of the left radial nerve based on imaging and was surgically removed. The pathology report revealed an uncommon diagnosis of desmoplastic fibroblastoma.

http://ift.tt/2nhtDP1

Delayed diagnosis of dermal leiomyosarcoma mimicking keloid scar

A 43-year-old man developed an abnormal scar 6 months following excision of a leiomyoma from his left shoulder. The scar was elevated, irregular in shape, pink-red in colour, hard in consistency and it was extending beyond the margins of the original wound. A diagnosis of a keloid scar was considered and the patient was managed as such. He underwent a planned procedure for intralesional excision of the keloid scar. The histopathological examination showed a diagnosis of leiomyosarcoma. This case report presents a delayed diagnosis of dermal leiomyosarcoma mimicking a keloid scar. The patient subsequently underwent wider excision of the tumour with curative intention.

http://ift.tt/2DG9PzU

Neurogenic pulmonary oedema secondary to vertebral artery dissection while playing tennis

We present a case of a patient who developed vertebral artery dissection (VAD) while playing tennis and presented with neurogenic pulmonary oedema. The case highlights two important points: acute pulmonary oedema as an unusual presenting feature of VAD and VAD, an important cause of stroke in young people, as being associated with playing low-impact sports such as tennis. These associations, independent of each other, are under-recognised and can lead to a delay in diagnosis.

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Dont put your foot in it: a case of talonavicular septic arthritis

We present the second documented case of primary septic arthritis of the talonavicular joint. This patient had a number of medical comorbidities, including chronic widespread pain including the ipsilateral limb, which made diagnosis an even greater challenge. Although a clinical diagnosis, joint fluid aspiration remains the gold standard. Prompt surgical drainage with adjuvant antibiotic treatment is recommended, and management requires a multidisciplinary team approach. The aim of treatment is to avoid the sequelae of joint destruction, pain and foot deformity.

http://ift.tt/2DIqoeI

Rare occurrence of eight-and-a-half syndrome as a clinically isolated syndrome

Eight-and-a-half syndrome is a rare condition that is described as a combination of one-and-a-half syndrome and an ipsilateral facial nucleus lesion. We present a clinical case of occurrence of eight-and-a-half syndrome that was caused by a demyelinating lesion in the dorsal pontine tegmentum. A 44-year-old man presented to the hospital with a subacute onset of horizontal diplopia and left-sided facial weakness. MRI revealed a T2 hyperintense lesion in his dorsal pons, which was consistent with a demyelinating pathology. Treatment with intravenous steroids showed significant improvement in his symptoms. In our case, it occurred due to a suspected demyelinating lesion that was this patient's first and only demyelinating event, leaving him with a diagnosis of clinically isolated syndrome. His responsiveness to steroids represents the first case report of an adult patient presenting with an eight-and-a-half syndrome secondary to a suspected demyelinating pathology.

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Sepsis Secondary to Bacteroides Fragilis Tubo-Ovarian Abscess Requiring Hysterectomy and Bilateral Salpingo-Oophorectomy

A 45-year-old, G0P0 premenopausal woman was admitted for investigation of right lower quadrant pain, fever, leucocytosis and right adnexal abscess on CT. She was started on intravenous antibiotics and underwent CT-guided percutaneous drainage from which Bacteroides fragilis was cultured. A few days later, she had an exploratory laparotomy with incision and drainage. Once stabilised, she was discharged on intravenous antibiotics. She was followed outpatient and subsequent imaging demonstrated significant improvement of the abscess. After being asymptomatic for 3 months, she again presented to the emergency department with right lower quadrant abdominal pain, fever and leucocytosis. Two days later, she underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy. She made a full recovery and began treatment with a herbal oestrogen derivative to prevent early menopause.

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Clostridium difficile enteritis: diffuse small bowel radiological changes in a patient with abdominal sepsis

While imaging appearances of pseudomembranous colitis are commonly recognised, radiological manifestations of Clostridium difficile-associated enteritis are poorly understood which, combined with the rarity of this infection involving small bowel, makes establishing the correct diagnosis challenging. Therefore, in order to encourage awareness of readers, we present a case of C. difficile enteritis that manifested as abdominal sepsis complicating the postoperative period in a middle-aged woman with fistulating Crohn's disease and defunctioning ileostomy. Radiological appearances are described based on three consecutive CT studies performed 5 days prior to onset of symptoms, during the peak of enteritis, corresponding with the patient's clinical deterioration, and also 35 days later following treatment and resolution.

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Emergency percutaneous transtracheal jet ventilation in a hypoxic cardiopulmonary resuscitation setting: a life-saving rescue technique

(Un)anticipated difficult airway remains a challenge in anaesthesia. Percutaneous transtracheal jet ventilation has been shown to be an adequate technique for temporary oxygenation and ventilation and has been described as an acknowledged method in emergency settings of an unanticipated difficult airway. These emergency settings can be considered as low incidence high-risk situations. Both technical and non-technical skills should be trained regularly as education and simulation continues to play an important factor in patient safety. Furthermore, postoperative laryngeal oedema due to altered lymphatic drainage patterns must be considered as a possible mechanism of an upper airway obstruction in combination with a history of neck dissection and radiotherapy.

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Fluctuating hypercalcaemia caused by cavitary Mycobacterium bovis pulmonary infection

Hypercalcaemia occurs in many granulomatous diseases. Among them, sarcoidosis and tuberculosis are the most common causes. Other causes include berylliosis, coccidioidomycosis, histoplasmosis, Crohn's disease, silicone-induced granulomas, cat-scratch disease, Wegener's granulomatosis and Pneumocystis carinii pneumonia. Hypercalcaemia in granulomatous disease occurs as a consequence of dysregulated production of 1,25-(OH)2 D3 (calcitriol) by activated macrophages in granulomas. Hypercalcaemia in patients with Mycobacterium tuberculosis infection has been reported in 0%–28% of cases. Uncultured bronchoalveolar lavage cells from patients with M. tuberculosis produce greater amounts of calcitriol compared with controls. Although Nayar et al described hypercalcaemia in a case of sepsis associated with intravesical Bacille Calmette Guerin therapy, there are no published reports describing hypercalcaemia in patients with pulmonary M. bovis infection. We describe a patient with M. bovis cavitary pulmonary infection with sustained hypercalcaemia that fluctuated and recurred repeatedly over the course of therapy, ultimately culminating in normalisation of serum calcium when therapy had led to cure. Treatment consisted of antituberculous therapy, oral corticosteroids and intravenous bisphosphonates with a favourable outcome.

http://ift.tt/2Gjq8Aa

Spontaneous calf haematoma in severe dengue

We report a case of spontaneous calf muscle haematoma, formed during the recovery phase of dengue haemorrhagic fever, which, to the best of our knowledge, has never been encountered before. A 45-year-old man presented with features of severe dengue and got admitted to our intensive care unit. He was treated with intravenous fluid therapy and supportive measures, and gradually improved, initially. However, during the recovery phase, he suddenly developed painful left calf, which was found tender, hot and swollen on physical examination. Colour Doppler ultrasound revealed left calf haematoma. As the patient rapidly developed local compartmental syndrome, surgical evacuation of the haematoma followed by urgent fasciotomy was performed. He recovered without further complication and was discharged home. At follow-up after 2 months, he remained well.

http://ift.tt/2rHgX9s

Acute retinal detachment induced by the Valsalva manoeuvre in morning glory disc anomaly

We present a case in which a large, bullous, predominantly inferior, serous retinal detachment developed acutely after the Valsalva manoeuvre (from a coughing fit) in an eye with morning glory disc anomaly. We postulate that a rapid alteration in intracranial pressure was transmitted through the cavitary disc defect. This allowed a sudden influx of cerebrospinal fluid and/or liquefied vitreous into the subretinal space. This previously unreported case provides important evidence for the role of intracranial pressure fluctuations in the pathogenesis of macular schisis and neurosensory detachment secondary to optic disc cavitations.

http://ift.tt/2Gljnhf

Oculocutaneous albinism with iridofundal coloboma

Description

A 20-year-old woman presented to the retina clinic with complaints of diminution of vision, photophobia and involuntary movement of both eyes since birth. The patient had light-coloured skin complexion along with golden hair. Best corrected visual acuity was 1/60 and 4/60 in the right and left eyes, respectively. Ocular examination revealed manifest nystagmus, but there was no evidence of squint or head posture. The anterior segment had clear cornea and lens, with colobomatous light-coloured iris. Fundus examination in the right eye showed diffusely hypopigmented fundus with a large, well-defined excavated area along the inferior and nasal quadrant, extending well above the optic disc and the macula, suggestive of type I iridofundal coloboma (figure 1). Similarly, in the left eye, there was diffuse hypopigmentation except at the macula. Retinal and choroidal vessels were well appreciated along with their drainage into the vortex veins (figure 2)....

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Secondary Omental Infarction in a Patient with a Hypercoagulable State

Omental infarction is a rare cause of acute and non-specific abdominal pain. We report a case of a 46-year-old man who presented to the emergency room with right upper quadrant cramping pain that was of sudden onset. The patient's presentation was later diagnosed as an omental infarction, by an abdominal CT. After extensive work-up, it was revealed that the cause of the patient's omental infarction was secondary to a hypercoagulable state caused by antiphospholipid syndrome, based on his thrombophilia work-up. The patient was successfully managed conservatively and was started on lifelong anticoagulation. The patient was followed up with an abdominal CT after 2 months into therapy, which showed a decrease in the size of the omental infarction and a significant improvement in his state.

http://ift.tt/2GkL9KS

Chronic reactive arthritis associated with prostatitis caused by Neisseria meningitidis

Description

A 29-year-old man presented with a 10-year history of pain in his right ankle. The ankle was tender and swollen, and there was Achilles tendinitis. He had no complaints of buttock pain, abdominal pain, dysuria or a feeling of incomplete voiding. Skin examination was normal. Laboratory investigations revealed a leucocyte count of 6.0x10⁹/L and a serum C reactive protein level of 5.21 mg/dL. Liver and renal function tests were normal. Rheumatoid factor, anticyclic citrullinated peptide antibody and antinuclear antibody were negative. Urinalysis was positive for occult blood, but there was no leucocyturia. Locus B human leukocyte antigen (HLA) typing was positive for B27. Plain radiography of the right ankle joint showed narrowing of the subtalar joint space and heel spurs on the plantar aspect of the calcaneus (figure 1). Contrast-enhanced CT scans demonstrated enhanced lesions in the peripheral zone of the prostate (figure 2). Culture...

http://ift.tt/2rMHrGW

Strangulated Spiegels hernia mimicking ischaemic colitis: endoscopic diagnosis of a rare surgical emergency

Description

An 84-year-old man was referred to the emergency department with a 2-day history of colicky abdominal pain in the left lower quadrant, bloody diarrhoea and abdominal distension. Nausea and two episodes of watery vomiting were reported as well. Past medical history was remarkable for arterial hypertension, dyslipidaemia and ischaemic stroke, for which he was taking lisinopril, hydrochlorothiazide, simvastatin and acetylsalicylic acid. Surgical background included laparotomy for appendectomy and appendicular abscess drainage 8 years before.

Physical examination showed stable vital signs and a distended abdomen, with tenderness in the left lower abdominal quadrant, but no signs of peritoneal irritation. An obvious, but reducible, abdominal wall hernia was palpable in the same location. The remaining exam was unremarkable.

Laboratory results revealed mild anaemia (haemoglobin—12.7 g/dL) and leukocytosis (white cell count—11.7x10⁹/L), acute kidney injury (creatinine—2.1 mg/dL) and elevated C reactive protein (298 mg/L). Liver function tests, electrolyte panel, amylase and lactate dehydrogenase were within...

http://ift.tt/2GlR0jb

Multicenter validation of cancer gene panel-based next-generation sequencing for translational research and molecular diagnostics

Abstract

The simultaneous detection of multiple somatic mutations in the context of molecular diagnostics of cancer is frequently performed by means of amplicon-based targeted next-generation sequencing (NGS). However, only few studies are available comparing multicenter testing of different NGS platforms and gene panels. Therefore, seven partner sites of the German Cancer Consortium (DKTK) performed a multicenter interlaboratory trial for targeted NGS using the same formalin-fixed, paraffin-embedded (FFPE) specimen of molecularly pre-characterized tumors (n = 15; each n = 5 cases of Breast, Lung, and Colon carcinoma) and a colorectal cancer cell line DNA dilution series. Detailed information regarding pre-characterized mutations was not disclosed to the partners. Commercially available and custom-designed cancer gene panels were used for library preparation and subsequent sequencing on several devices of two NGS different platforms. For every case, centrally extracted DNA and FFPE tissue sections for local processing were delivered to each partner site to be sequenced with the commercial gene panel and local bioinformatics. For cancer-specific panel-based sequencing, only centrally extracted DNA was analyzed at seven sequencing sites. Subsequently, local data were compiled and bioinformatics was performed centrally. We were able to demonstrate that all pre-characterized mutations were re-identified correctly, irrespective of NGS platform or gene panel used. However, locally processed FFPE tissue sections disclosed that the DNA extraction method can affect the detection of mutations with a trend in favor of magnetic bead-based DNA extraction methods. In conclusion, targeted NGS is a very robust method for simultaneous detection of various mutations in FFPE tissue specimens if certain pre-analytical conditions are carefully considered.

http://ift.tt/2BxbO3o

Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports

Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrat...

http://ift.tt/2ngBRHe

Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report

Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyo...

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Is it safe to get Botox while breast-feeding?

A look at Botox and breast-feeding safety. Included is detail on how Botox affects the body and other side effects that are important for mothers to know.

http://ift.tt/2neZCiU

Thymoma-associated multiorgan autoimmunity with exclusive gastrointestinal tract involvement: case report and review of the literature

Abstract

Thymoma-associated multiorgan autoimmunity (TAMA) is a recently delineated and rare paraneoplastic syndrome reported in patients with thymoma. The disorder is characterized by graft-versus-host disease-like pathology affecting the skin, gastrointestinal tract (GIT), and liver, and is usually associated with a poor outcome. We document a case of TAMA with exclusive GIT involvement which included the stomach, small and large bowel, presenting in a 66-year-old male patient 5 years after complete resection of a type B2 thymoma. A brief review is provided of this scarce syndrome, the GIT pathology described in the 21 TAMA cases reported to date, and the unique characteristics of patients with exclusive GIT involvement by this acquired autoimmune disorder.

http://ift.tt/2rEYpa1

Turning Landscape Into Colour

McCausland, Onya Wilder; (2017) Turning Landscape Into Colour. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2BxHCWc

Thailand’s national universal developmental screening programme for young children: action research for improved follow-up

Morrison, JL; Chunsuwan, I; Bunnag, P; Gronholm, PC; Lockwood Estrin, G; (2018) Thailand's national universal developmental screening programme for young children: action research for improved follow-up. BMJ Global Health , 3 , Article e000589. 10.1136/bmjgh-2017-000589 . (In press). Green open access

http://ift.tt/2ncH1os

Analysis of Long-term Outcomes of Radiotherapy and Verteporfin Photodynamic Therapy for Circumscribed Choroidal Hemangioma

Papastefanou, VP; Plowman, PN; Reich, E; Pavlidou, E; Restori, M; Hungerford, JL; Arora, AK; ... Sagoo, MS; + view all Papastefanou, VP; Plowman, PN; Reich, E; Pavlidou, E; Restori, M; Hungerford, JL; Arora, AK; Cohen, VML; Sagoo, MS; - view fewer (2018) Analysis of Long-term Outcomes of Radiotherapy and Verteporfin Photodynamic Therapy for Circumscribed Choroidal Hemangioma. Ophthalmology Retina 10.1016/j.oret.2017.12.002 . (In press).

http://ift.tt/2BuEEBG

Correlative light and immuno-electron microscopy of retinal tissue cryostat sections

Burgoyne, T; Lane, A; Laughlin, WE; Cheetham, ME; Futter, CE; (2018) Correlative light and immuno-electron microscopy of retinal tissue cryostat sections. PLoS One , 13 (1) , Article e0191048. 10.1371/journal.pone.0191048 . Green open access

http://ift.tt/2neSZhr

Long-term in-situ measurement of heat flux and temperature on a filled cavity wall in a residential building in the UK

Gori, V; Elwell, CA; (2018) Long-term in-situ measurement of heat flux and temperature on a filled cavity wall in a residential building in the UK. [Dataset]. UCL Energy Institute: London, UK. Green open access

http://ift.tt/2BuEE4E

Long-term in-situ measurements of heat flux and temperature on a solid-brick wall in an office building in the UK

Gori, V; Elwell, CA; (2018) Long-term in-situ measurements of heat flux and temperature on a solid-brick wall in an office building in the UK. [Dataset]. UCL Energy Institute: London, UK. Green open access

http://ift.tt/2ndr80O

New insights into pain mechanisms through the study of genes associated with monogenic pain disorders

Matsuyama, Ayako; (2017) New insights into pain mechanisms through the study of genes associated with monogenic pain disorders. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2BvqArA

Extending Ethnoprimatology: Human–Alloprimate Relationships in Managed Settings

Palmer, AP; Malone, N; (2018) Extending Ethnoprimatology: Human–Alloprimate Relationships in Managed Settings. International Journal of Primatology 10.1007/s10764-017-0006-6 . (In press). Green open access

http://ift.tt/2nbYhdo

Co-research with adults with intellectual disability: A systematic review

Di Lorito, C; Bosco, A; Birt, L; Hassiotis, A; (2017) Co-research with adults with intellectual disability: A systematic review. Journal of Applied Research in Intellectual Disabilities 10.1111/jar.12435 . (In press).

http://ift.tt/2Buh3kJ

The Development of Microfibrous Matrices Prepared Using Centrifugal Spinning for the Oral Delivery of Poorly Water-Soluble Drugs

Marano, Stefania; (2017) The Development of Microfibrous Matrices Prepared Using Centrifugal Spinning for the Oral Delivery of Poorly Water-Soluble Drugs. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2nbY6yK

Reflections on Faith-Based Solidarity and Social Membership: Beyond Religion? The Case of Lebanese Shiite FBOs

Carpi, E; (2017) Reflections on Faith-Based Solidarity and Social Membership: Beyond Religion? The Case of Lebanese Shiite FBOs. Caucasus International , 7 (2) pp. 67-82.

http://ift.tt/2Bvqy2W

Independence as the constrained freedom to individuate: a study from an internal perspective of the aims and evaluation processes in early twenty-first century secondary schools belonging to the Independent Schools Council (ISC) associations

Mannion Watson, Christine Anne; (2017) Independence as the constrained freedom to individuate: a study from an internal perspective of the aims and evaluation processes in early twenty-first century secondary schools belonging to the Independent Schools Council (ISC) associations. Doctoral thesis (Ph.D), UCL (University College London). Green open access

http://ift.tt/2nbY2Pw

Privacy Rights and Public Information

Rumbold, B; Wilson, JGS; (2019) Privacy Rights and Public Information. Journal of Political Philosophy (In press).

http://ift.tt/2BvqvUO

Cognitive control development in adolescence

Magis Weinberg, Lucía Inés; (2017) Cognitive control development in adolescence. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2nbXZ6i

Review of ‘The Governance of Rangelands’ edited by Pedro M Herrera, Jonathan Davies and Pablo Manzano Baena

Bedelian, C; (2017) Review of 'The Governance of Rangelands' edited by Pedro M Herrera, Jonathan Davies and Pablo Manzano Baena. [Review]. Pastoralism , 7 , Article 27. 10.1186/s13570-017-0102-4 . Green open access

http://ift.tt/2BvrT9Q

Space syntax: consolidation and transformation of an urban research field

Karimi, K; (2018) Space syntax: consolidation and transformation of an urban research field. Journal of Urban Design , 23 (1) pp. 1-4. 10.1080/13574809.2018.1403177 .

http://ift.tt/2nbXMjw

Segmentation error in spectral domain optical coherence tomography measures of the retinal nerve fibre layer thickness in idiopathic intracranial hypertension

Aojula, A; Mollan, SP; Horsburgh, J; Yiangou, A; Markey, KA; Mitchell, JL; Scotton, WJ; ... Sinclair, AJ; + view all Aojula, A; Mollan, SP; Horsburgh, J; Yiangou, A; Markey, KA; Mitchell, JL; Scotton, WJ; Keane, PA; Sinclair, AJ; - view fewer (2018) Segmentation error in spectral domain optical coherence tomography measures of the retinal nerve fibre layer thickness in idiopathic intracranial hypertension. BMC Ophthalmology , 17 (1) , Article 257. 10.1186/s12886-017-0652-7 . Green open access

http://ift.tt/2Bw8c1z

Rapid hematological responses improve outcomes in patients with very advanced (Stage IIIb) cardiac immunoglobulin light chain amyloidosis

Manwani, R; Foard, D; Mahmood, S; Sachchithanantham, S; Lane, T; Quarta, C; Youngstein, T; ... Wechalekar, AD; + view all Manwani, R; Foard, D; Mahmood, S; Sachchithanantham, S; Lane, T; Quarta, C; Youngstein, T; Rezk, T; Lachmann, HJ; Gillmore, JD; Fontana, M; Whelan, C; Hawkins, PN; Wechalekar, AD; - view fewer (2018) Rapid hematological responses improve outcomes in patients with very advanced (Stage IIIb) cardiac immunoglobulin light chain amyloidosis. Haematologica 10.3324/haematol.2017.178095 . (In press).

http://ift.tt/2nbXGsa

Preclinical imaging methods for assessing the safety and efficacy of regenerative medicine therapies

Scarfe, L; Brillant, N; Kumar, JD; Ali, N; Alrumayh, A; Amali, M; Barbellion, S; ... Park, BK; + view all Scarfe, L; Brillant, N; Kumar, JD; Ali, N; Alrumayh, A; Amali, M; Barbellion, S; Jones, V; Niemeijer, M; Potdevin, S; Roussignol, G; Vaganov, A; Barbaric, I; Barrow, M; Burton, NC; Connell, J; Dazzi, F; Edsbagge, J; French, NS; Holder, J; Hutchinson, C; Jones, DR; Kalber, T; Lovatt, C; Lythgoe, MF; Patel, S; Patrick, PS; Piner, J; Reinhardt, J; Ricci, E; Sidaway, J; Stacey, GN; Starkey Lewis, PJ; Sullivan, G; Taylor, A; Wilm, B; Poptani, H; Murray, P; Goldring, CEP; Park, BK; - view fewer (2017) Preclinical imaging methods for assessing the safety and efficacy of regenerative medicine therapies. NPJ Regenerative Medicine , 2 , Article 28. 10.1038/s41536-017-0029-9 . Green open access

http://ift.tt/2Bvxxcj

The genetics of inherited disorders of white matter and related neurodegenerative diseases

Lynch, David S; (2017) The genetics of inherited disorders of white matter and related neurodegenerative diseases. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2nfnp2Z

Identifying the Predictive Factors of Response to PD-1 or PD-L1 Antagonists

Conditions:   Melanoma;   Non Small Cell Lung Cancer;   Head and Neck Squamous Cell Carcinoma
Intervention:   Procedure: Biopsy
Sponsors:   UNICANCER;   Fondation ARC
Not yet recruiting

http://ift.tt/2DH3hB9

Hippocampus Avoidance During Intensity Modulated Radiotherapy for T4 Nasopharyngeal Carcinoma Patients

Condition:   Nasopharyngeal Carcinoma
Intervention:  
Sponsor:   Zhejiang Cancer Hospital
Recruiting

http://ift.tt/2nb1s4e

Study on the Application of Convenient Foot-control Exhaust Method in Endoscopic Thyroidectomy

Conditions:   Thyroid Cancer;   Papillary Thyroid Carcinoma;   Thyroidectomy;   Endoscopy
Interventions:   Device: used of the Pressure adjustable foot-control method;   Device: direct exhaust
Sponsor:   wangbo
Recruiting

http://ift.tt/2DERkeZ

Peptide Vaccine in Advanced Pancreatic Ductal Adenocarcinoma or Colorectal Adenocarcinoma

Conditions:   Pancreatic Cancer;   Colorectal Cancer
Interventions:   Biological: Peptide Vaccine;   Behavioral: Phone Call;   Drug: Pembrolizumab
Sponsor:   M.D. Anderson Cancer Center
Recruiting

http://ift.tt/2niFJYn

A novel glycocluster molecule prevents timothy induced allergic airway inflammation in mice

Abstract

Background

Allergen specific immunotherapy (SIT) effectively alleviates type I allergic diseases characterized by T helper (Th) 2-type immunity. Our recent studies have shown that a synthetic trivalent glycocluster, triacedimannose (TADM), suppresses the Th2-type allergic inflammation. The aim of this study was to compare TADM with two well-known adjuvants, unmethylated cytocine-phosphate-guanine oligodeoxynucleotide (CpG) and monophosphoryl lipid A (MPLA) in a grass allergen induced chronic allergic inflammation model in mice.

Methods

Female BALB/c mice were intranasally sensitized with 50 μl of timothy grass pollen extract (TE) twice a week for a period of 15 weeks. Therapeutic intranasal treatments were then performed once a week after the tenth intranasal TE instillation using TADM (10 or 25μg/50 μl), CpG-ODN (20μg/50 μl) or MPLA (2μg/50μl). Groups of 9-10 animals per treatment were sacrificed 24 h after the last timothy dosage. Blood, bronchoalveolar lavage (BAL) fluids and lung biopsies were taken for subsequent analysis.

Results

When mice were repeatedly exposed to TE for 15 weeks, the number of eosinophils and lymphocytes increased in the BAL fluids. The eosinophil and lymphocyte counts decreased dose-dependently, and were practically abolished in the mice treated with TADM. Treatments with MPLA or CpG significantly increased the numbers of neutrophils, while CpG nonsignificantly decreased eosinophilia compared to timothy exposure.

Conclusions

A novel synthetic glycocluster molecule inhibited the development of grass induced eosinophilic pulmonary inflammation in mice when administrated in the airways. This compound could be a candidate to be used either as an adjuvant in SIT or as a topical anti-inflammatory treatment.

This article is protected by copyright. All rights reserved.

http://ift.tt/2ncShkG

A comparison of symptoms and quality of life before and after nasal septoplasty and radiofrequency therapy of the inferior turbinate

Abstract

Background

The primary goal of this study is to compare pre- and postoperative symptoms and health related quality of life (HQOL) in 57 patients who underwent septoplasty (group-1), 56 patients who underwent septoplasty combined with radiofrequency therapy of inferior turbinates (RFIT) (group-2) and 58 patients who underwent RFIT alone (group-3). The secondary goal is to investigate if the change in symptoms and HQOL differed between these three patient groups after surgery.

Methods

All patients reported symptoms on a visual analogue scale (VAS) and HQOL on Sino-Nasal-Outcome-Test-20 (SNOT-20) and Short-Form-Health-Survey-36 (SF-36) before and 6 months after surgery. The pre- and postoperative scores and improvement were compared within and between the three patient groups.

Results

Preoperatively the three patient groups had a fairly similar symptom burden and HQOL, except for group-1 which reported more symptoms of oral breathing than group-3 (p < 0.01) and group-3 which reported more problems in the ear/facial--subset of SNOT-20 and in the general-mental-health-domain of SF-36 than group-1 (p < 0.01).

Postoperatively all patient groups reported improved symptom scores of nasal obstruction, nasal discharge, snoring, oral breathing and reduced general health (p < 0.01), and better HQOL (p < 0.05). Patients in group-2 had less symptoms of nasal obstruction than group-3 (p < 0.05). Postoperative symptom score for nasal obstruction was 29.1 (SD67.6) in group-1, 27.5 (SD22.5) in group-2 and 37.2 (SD24.8) in group-3. Revision cases reported more nasal obstruction postoperatively; 41.3 (SD27) than non revision cases; 28.6 (SD24) (p < 0.01).

The HQOL after surgery was about the same in all three patient groups, but we found that patients with comorbidities as sleep apnea and asthma reported worse HQOL than other patients (p < 0.01).

Conclusion

Surgical treatment of nasal obstruction led to less symptoms and better HQOL for all three patient groups. Comparing the postoperative scores between the patient groups we find that all groups reached the same level of HQOL. Regarding symptoms, the patients who underwent septoplasty combined with RFIT reported postoperatively less nasal obstruction than patients who underwent RFIT alone which may indicate that a combined procedure of septoplasty and RFIT is better than RFIT alone to treat nasal obstruction. Furthermore, revision cases, patients with sleep apnea and asthma patients seem to have poorer outcome after surgery than other patients. Both disease specific and general QOL instruments add valuable information for identifying factors influencing outcome.

http://ift.tt/2Gl4xY3

Development and validation of a standardized double-blind, placebo-controlled food challenge matrix for raw hazelnuts

Double-blind, placebo-controlled food challenge (DBPCFC) is considered the gold standard for food allergy diagnosis. However, this test is rarely performed routinely in clinical practice because of various pra...

http://ift.tt/2DFYik5

Wrong Side of the Tracks? The Development of London’s Railway Terminus Neighbourhoods

Bolton, T; (2018) Wrong Side of the Tracks? The Development of London's Railway Terminus Neighbourhoods. Doctoral thesis (Ph.D), UCL (University College London). Green open access

http://ift.tt/2EbKg6V

Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts

Seibert, TM; Fan, CC; Wang, Y; Zuber, V; Karunamuni, R; Parsons, JK; Eeles, RA; ... PRACTICAL Consortium*, ; + view all Seibert, TM; Fan, CC; Wang, Y; Zuber, V; Karunamuni, R; Parsons, JK; Eeles, RA; Easton, DF; Kote-Jarai, Z; Al Olama, AA; Garcia, SB; Muir, K; Grönberg, H; Wiklund, F; Aly, M; Schleutker, J; Sipeky, C; Tammela, TL; Nordestgaard, BG; Nielsen, SF; Weischer, M; Bisbjerg, R; Røder, MA; Iversen, P; Key, TJ; Travis, RC; Neal, DE; Donovan, JL; Hamdy, FC; Pharoah, P; Pashayan, N; Khaw, K-T; Maier, C; Vogel, W; Luedeke, M; Herkommer, K; Kibel, AS; Cybulski, C; Wokolorczyk, D; Kluzniak, W; Cannon-Albright, L; Brenner, H; Cuk, K; Saum, K-U; Park, JY; Sellers, TA; Slavov, C; Kaneva, R; Mitev, V; Batra, J; Clements, JA; Spurdle, A; Teixeira, MR; Paulo, P; Maia, S; Pandha, H; Michael, A; Kierzek, A; Karow, DS; Mills, IG; Andreassen, OA; Dale, AM; PRACTICAL Consortium*, ; - view fewer (2018) Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts. BMJ , 360 , Article j5757. (In press). Green open access

http://ift.tt/2DAjlAr

An exploration of the hypothesis that testosterone is implicated in the psychological functioning of women with polycystic ovary syndrome (PCOS)

Barry, JA; Qu, F; Hardiman, PJ; (2018) An exploration of the hypothesis that testosterone is implicated in the psychological functioning of women with polycystic ovary syndrome (PCOS). Medical Hypotheses , 110 pp. 42-45. 10.1016/j.mehy.2017.10.019 .

http://ift.tt/2EcWmN9

Pyridazinediones: versatile scaffolds for site-selective protein modification

Lee, Maximillian; (2018) Pyridazinediones: versatile scaffolds for site-selective protein modification. Doctoral thesis (Ph.D), UCL (University College London). Green open access

http://ift.tt/2DAYg8R

Regulation of myelinated axon structure in the Central Nervous System

Krasnow, AM; (2017) Regulation of myelinated axon structure in the Central Nervous System. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2Eau6dS

Phytopharmacy Research in the Context of Saudi Arabian Healthcare – the Example of Nigella sativa L. Efficacy on Asthma Inflammation and Outcomes

Koshak, Abdulrahman Emad; (2017) Phytopharmacy Research in the Context of Saudi Arabian Healthcare – the Example of Nigella sativa L. Efficacy on Asthma Inflammation and Outcomes. Doctoral thesis (Ph.D), UCL (University College London). Green open access

http://ift.tt/2DCBC02

Evaluating the impact of social-media on sales forecasting: a quantitative study of worlds biggest brands using Twitter, Facebook and Google Trends

Kolchyna, Olga; (2017) Evaluating the impact of social-media on sales forecasting: a quantitative study of worlds biggest brands using Twitter, Facebook and Google Trends. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2EcWcFx

Cell cycle regulated transcription and genome integrity in yeast

Kishkevich, Anastasiya; (2017) Cell cycle regulated transcription and genome integrity in yeast. Doctoral thesis (Ph.D), UCL (University College London). Green open access

http://ift.tt/2DAxDBe

Bio-graphies of Uncertain Futures: Religion, Science and Breast Cancer Risk in Greece

Kampriani, Eirini; (2017) Bio-graphies of Uncertain Futures: Religion, Science and Breast Cancer Risk in Greece. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2EbJlDq

Developing multiparametric and novel magnetic resonance imaging biomarkers for prostate cancer

Johnston, Edward William; (2017) Developing multiparametric and novel magnetic resonance imaging biomarkers for prostate cancer. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2DCvGUJ

Design of a Domain Information Model for a Medication Profile to support Patient Care and Clinical Research

James, J; (2017) Design of a Domain Information Model for a Medication Profile to support Patient Care and Clinical Research. Doctoral thesis (Ph.D), UCL (University College London). Green open access

http://ift.tt/2Ec6Ps6

Performing Casa Malaparte: Architecture as a Living Portrait

Iacovou, Popi; (2017) Performing Casa Malaparte: Architecture as a Living Portrait. Doctoral thesis (Ph.D), UCL (University College London).

http://ift.tt/2DB9iuW

Nature and role of surgical margins in transoral laser microsurgery for early and intermediate glottic cancer

Purpose of review Summarize recent findings regarding the impact of margin status on oncologic outcomes and organ preservation, as well as evaluate possible management policies of close and positive margins after transoral laser microsurgery (TLM) for Tis-T2 glottic carcinomas. Recent findings Impact of margin status on survival rates remains controversial, whereas some authors found close and positive margins to be independent risk factors for recurrence and poorer survival rates, others did not find any significant variations compared with negative ones. A common trend can be observed in performing a watchful waiting policy or second look TLM in patients with close-superficial and positive single-superficial margins. Further treatment seems preferable in case of deep and positive multiple superficial margins. Summary Positive margins are present in up to 50% of patients treated by TLM, even though a high rate of false positivity, reaching 80%, has been described. Close and positive single superficial margins seem to be linked to higher recurrence rates compared with negative margins, even though watchful wait and see policy, especially when performed by adjunctive visual aids like Narrow Band Imaging, maintains good final oncological and organ preservation outcomes. Further treatments are required in case of deep margin positivity. Correspondence to Ivana Fiz, MD, Department of Otorhinolaryngology – Head and Neck Surgery, Katharinenhospital, Kriegsbergstrasse 60, 70174 Stuttgart, Germany. Tel: +49 162 31 81 826; fax: +49 0711 278 33 209; e-mail: ivana.fiz.orl@gmail.com Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

http://ift.tt/2GkrzhJ

Salivary duct carcinoma

Purpose of review The review puts new information on geno- and phenotype of salivary duct carcinoma (SDC) in the perspective of the updated 2017 WHO classification. Recent findings The proportion of SDC is increasing. This may be because of a true rise in incidence, but certainly to better diagnostic tests and changed WHO definitions. In this light, a substantial proportion of carcinoma expleomorphic adenoma is now attributed to the category of SDC. 'Low-grade SDC' and 'SDC in-situ' of the former WHO classification, are now named low-grade and high-grade intraductal carcinoma (IDC), respectively. Recent series quantify biologic aggressiveness: perineural growth, vascular invasion, and extracapsular extension in lymph node metastasis are each observed in two out of three patients with SDC. Most patients die within 3 years, but once 5-year disease-free survival is reached, further disease activity is exceptional. The typical molecular biological profile with high human epidermal growth factor receptor 2 and androgen receptor expression is increasingly successfully exploited in clinical trials for advanced SDC. Summary The aggressive SDC is increasingly diagnosed. Despite intensive combined surgery and radiation therapy, many patients recur, for whom new bullets, targeting the molecular biological mechanisms, are the subject of ongoing clinical trials. Correspondence to Vincent Vander Poorten, MD, MSc, PhD, Otorhinolaryngology, Head and Neck Surgery, Leuven Cancer Institute, University Hospitals Leuven, and Section Head and Neck Oncology, Department of Oncology, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Tel: +3216332342; fax: +3216332335; e-mail: vincent.vanderpoorten@uzleuven.be Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

http://ift.tt/2rJ4YIC

Aktuelle medikamentöse Behandlung von Sarkomen

Zusammenfassung

Hintergrund

Der Part der Systemtherapie am Gesamtkonzept ist im Einzelfall im interdisziplinären Kontext zu eruieren. Beim lokal fortgeschrittenen Sarkom können verschiedene Therapieziele definiert werden, um einerseits bei Irresektabilität den Ansatz einer vollständigen Resektion zu erreichen, häufig in Kombination mit Strahlentherapie, oder um andererseits bei gegebener Operabilität die Fernmetastasierungsrate zu senken und die lokale Kontrolle zu verbessern. Dieser Ansatz trifft auch auf die postoperative Systemtherapie zu. Des Weiteren ist in der metastasierten Ausgangslage dieser Ansatz Standard.

Ziel, Material, Methoden

Die Arbeit basiert auf einer selektiven Literaturrecherche in der Datenbank PubMed mit den Suchwörtern „soft tissue sarcoma, GIST, locally advanced, metastatic, chemotherapy, targeted therapy, phase 2, phase 3".

Ergebnisse und Schlussfolgerungen

Für Patienten mit fortgeschrittenen Hochrisiko-Weichteilsarkomen im UICC-Stadium III (d. h. Größe >5 cm, tiefe Lokalisation, Grading > II nach FNCLCC [Fédération Nationale des Centres de Lutte Contre le Cancer]) können präoperative/neoadjuvante Therapieverfahren unter Einschluss von Anthrazyklinen und Ifosfamid (IFO) erwogen werden. Dies gilt also für alle High-grade-Sarkome, bei denen nicht zuverlässig ein ausreichender Sicherheitsabstand (>5–10 mm, Faszie) erreicht werden kann. Idealerweise sollte die Systemtherapie mit einer Radiatio kombiniert werden. Im neoadjuvanten Therapiekonzept ist eine höhere Dosisintensität erreichbar als postoperativ. Die komplette pathologische Response ist prognostisch bedeutsam. Die adjuvante Chemotherapie nach Resektion eines Sarkoms ist mit einer Verbesserung des erkrankungsfreien und des Gesamtüberlebens verbunden. Diese sollte nach detaillierter Aufklärung über die Risiken und unter Beachtung von Allgemeinzustand, Alter, Lokalisation, histologischem Subtyp, Organfunktion und Komorbidität auf Hochrisikopatienten begrenzt werden. In der palliativen Erstlinie bleibt eine Adriamycin(ADM)-basierte Therapie weiterhin Standard. Erstmals steht mit Olaratumab ein monoklonaler Antikörper in Kombination zur Verfügung („conditional approval"). Nachfolgende Linien werden entsprechend histologischem Subtyp, Allgemeinzustand und Organfunktion individuell adaptiert. Zugelassen ist bei refraktärer Erkrankung neben Pazopanib und Trabectedin nun auch Eribulin, begrenzt auf Liposarkome. Lokalisierte Hochrisiko-GIST (GIST gastrointestinale Stromatumoren) werden derzeit 3 Jahre mit Imatinib adjuvant behandelt. Die Dauer der Therapie ist Gegenstand von Untersuchungen. In der metastasierten Situation stehen drei Therapielinien zur Verfügung, mit denen ca. 20 % der Patienten ein Zehnjahresüberleben erreichen.

http://ift.tt/2nhU0Vd

Moderne Radiotherapie beim Hodgkin-Lymphom

Zusammenfassung

Hintergrund

Die Behandlung der zumeist jungen Patienten mit einem Hodgkin-Lymphom (HL) führt in den meisten Fällen zu einer dauerhaften Heilung. Durch kontinuierliche Behandlung der Patienten in klinischen Studien konnte wie bei keiner anderen Erkrankung eine Therapieoptimierung erfolgen. Anfängliche Großfeldbestrahlung wurde nach und nach ebenso wie die Bestrahlungsdosis reduziert, und durch die Hinzunahme der Chemotherapie wurde die „combined modality" etabliert.

Methoden

Es erfolgte eine selektive Literaturrecherche in der Datenbank Pubmed zum Thema Hodgkin-Lymphom und Radiotherapie.

Ergebnisse

Aktuell prägen technische Fortschritte und neue Zielvolumenkonzepte die Planung und Durchführung der Bestrahlung wie nie zuvor. Aufgrund der exzellenten Prognose der Patienten spielen akute, aber v. a. Langzeitnebenwirkungen eine wesentliche Rolle. Lungenfibrose, Herzinfarkt und sekundäre Malignome sind mögliche Nebenwirkungen, deren Risiko durch sorgfältige Bestrahlungsplanung und Bestrahlungsdurchführung beeinflusst werden kann. Aus diesem Grund spielen Entwicklungen, wie die Bestrahlung in tiefer Inspiration (DIBH) und moderne Bestrahlungstechniken wie z. B. intensitätsmodulierte Radiotherapie (IMRT) und bildgeführte Radiotherapie (IGRT), eine ebenso herausragende Rolle im strahlentherapeutischen Alltag wie die neuen Zielvolumenkonzepte der International Lymphoma Radiation Oncology Group (ILROG).

Schlussfolgerung

Durch die Verwendung moderner Techniken in der Bestrahlungsplanung und Bestrahlungsdurchführung kann eine erhöhte Präzision erreicht werden. Ebenso zeigen aktuelle Auswertungen, dass mit hoher Wahrscheinlichkeit auch ein positiver Einfluss auf die akuten und Langzeitnebenwirkungen genommen werden kann.

http://ift.tt/2DFLlXD

The Genetics of Food Allergy

Abstract

Purpose of Review

Food allergy likely arises from a complex interplay between environmental triggers and genetic susceptibility. Here, we review recent studies that have investigated the genetic pathways and mechanisms that may contribute to the pathogenesis of food allergy.

Recent Findings

A heritability component of food allergy has been observed in multiple studies. A number of monogenic diseases characterized by food allergy have elucidated pathways that may be important in pathogenesis. Several population-based genetic variants associated with food allergy have also been identified.

Summary

The genetic mechanisms that play a role in the development of food allergy are heterogeneous and complex. Advances in our understanding of the genetics of food allergy, and how this predisposition interacts with environmental exposures to lead to disease, will improve our understanding of the key pathways leading to food allergy and inform more effective prevention and treatment strategies.

http://ift.tt/2DASUKW

The Genetics of Food Allergy

Abstract

Purpose of Review

Food allergy likely arises from a complex interplay between environmental triggers and genetic susceptibility. Here, we review recent studies that have investigated the genetic pathways and mechanisms that may contribute to the pathogenesis of food allergy.

Recent Findings

A heritability component of food allergy has been observed in multiple studies. A number of monogenic diseases characterized by food allergy have elucidated pathways that may be important in pathogenesis. Several population-based genetic variants associated with food allergy have also been identified.

Summary

The genetic mechanisms that play a role in the development of food allergy are heterogeneous and complex. Advances in our understanding of the genetics of food allergy, and how this predisposition interacts with environmental exposures to lead to disease, will improve our understanding of the key pathways leading to food allergy and inform more effective prevention and treatment strategies.

http://ift.tt/2DASUKW

Nature and role of surgical margins in transoral laser microsurgery for early and intermediate glottic cancer

Purpose of review Summarize recent findings regarding the impact of margin status on oncologic outcomes and organ preservation, as well as evaluate possible management policies of close and positive margins after transoral laser microsurgery (TLM) for Tis-T2 glottic carcinomas. Recent findings Impact of margin status on survival rates remains controversial, whereas some authors found close and positive margins to be independent risk factors for recurrence and poorer survival rates, others did not find any significant variations compared with negative ones. A common trend can be observed in performing a watchful waiting policy or second look TLM in patients with close-superficial and positive single-superficial margins. Further treatment seems preferable in case of deep and positive multiple superficial margins. Summary Positive margins are present in up to 50% of patients treated by TLM, even though a high rate of false positivity, reaching 80%, has been described. Close and positive single superficial margins seem to be linked to higher recurrence rates compared with negative margins, even though watchful wait and see policy, especially when performed by adjunctive visual aids like Narrow Band Imaging, maintains good final oncological and organ preservation outcomes. Further treatments are required in case of deep margin positivity. Correspondence to Ivana Fiz, MD, Department of Otorhinolaryngology – Head and Neck Surgery, Katharinenhospital, Kriegsbergstrasse 60, 70174 Stuttgart, Germany. Tel: +49 162 31 81 826; fax: +49 0711 278 33 209; e-mail: ivana.fiz.orl@gmail.com Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

http://ift.tt/2GkrzhJ

Salivary duct carcinoma

Purpose of review The review puts new information on geno- and phenotype of salivary duct carcinoma (SDC) in the perspective of the updated 2017 WHO classification. Recent findings The proportion of SDC is increasing. This may be because of a true rise in incidence, but certainly to better diagnostic tests and changed WHO definitions. In this light, a substantial proportion of carcinoma expleomorphic adenoma is now attributed to the category of SDC. 'Low-grade SDC' and 'SDC in-situ' of the former WHO classification, are now named low-grade and high-grade intraductal carcinoma (IDC), respectively. Recent series quantify biologic aggressiveness: perineural growth, vascular invasion, and extracapsular extension in lymph node metastasis are each observed in two out of three patients with SDC. Most patients die within 3 years, but once 5-year disease-free survival is reached, further disease activity is exceptional. The typical molecular biological profile with high human epidermal growth factor receptor 2 and androgen receptor expression is increasingly successfully exploited in clinical trials for advanced SDC. Summary The aggressive SDC is increasingly diagnosed. Despite intensive combined surgery and radiation therapy, many patients recur, for whom new bullets, targeting the molecular biological mechanisms, are the subject of ongoing clinical trials. Correspondence to Vincent Vander Poorten, MD, MSc, PhD, Otorhinolaryngology, Head and Neck Surgery, Leuven Cancer Institute, University Hospitals Leuven, and Section Head and Neck Oncology, Department of Oncology, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Tel: +3216332342; fax: +3216332335; e-mail: vincent.vanderpoorten@uzleuven.be Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

http://ift.tt/2rJ4YIC

Image Guidance Technologies for Interventional Pain Procedures: Ultrasound, Fluoroscopy, and CT

Abstract

Chronic pain is a common medical condition. Patients who suffer uncontrolled chronic pain may require interventions including spinal injections and various nerve blocks. Interventional procedures have evolved and improved over time since epidural injection was first introduced for low back pain and sciatica in 1901. One of the major contributors in the improvement of these interventions is the advancement of imaging guidance technologies. The utilization of image guidance has dramatically improved the accuracy and safety of these interventions. The first image guidance technology adopted by pain specialists was fluoroscopy. This was followed by CT and ultrasound. Fluoroscopy can be used to visualize bony structures of the spine. It is still the most commonly used guidance technology in spinal injections. In the recent years, ultrasound guidance has been increasingly adopted by interventionists to perform various injections. Because its ability to visualize soft tissue, vessels, and nerves, this guidance technology appears to be a better option than fluoroscopy for interventions including SGB and celiac plexus blocks, when visualization of the vessels may prevent intravascular injection. The current evidence indicates the efficacies of these interventions are similar between ultrasound guidance and fluoroscopy guidance for SGB and celiac plexus blocks. For facet injections and interlaminar epidural steroid injections, it is important to visualize bony structures in order to perform these procedures accurately and safely. It is worth noting that facet joint injections can be done under ultrasound guidance with equivalent efficacy to fluoroscopic guidance. However, obese patients may present challenge for ultrasound guidance due to its poor visualization of deep anatomical structures. Regarding transforaminal epidural steroid injections, there are limited evidence to support that ultrasound guidance technology has equivalent efficacy and less complications comparing to fluoroscopy. However, further studies are required to prove the efficacy of ultrasound-guided transforaminal epidural injections. SI joint is unique due to its multiplanar orientation, irregular joint gap, partial ankylosis, and thick dorsal and interosseous ligament. Therefore, it can be difficult to access the joint space with fluoroscopic guidance and ultrasound guidance. CT scan, with its cross-sectional images, can identify posterior joint gap, is most likely the best guidance technology for this intervention. Intercostal nerves lie in the subcostal grove close to the plural space. Significant risk of pneumothorax is associated with intercostal blocks. Ultrasound can provide visualization of ribs and pleura. Therefore, it may improve the accuracy of the injection and reduce the risk of pneumothorax. At present time, most pain specialists are familiar with fluoroscopic guidance techniques, and fluoroscopic machines are readily available in the pain clinics. In the contrast, CT guidance can only be performed in specially equipped facilities. Ultrasound machine is generally portable and inexpensive in comparison to CT scanner and fluoroscopic machine. As pain specialists continue to improve their patient care, ultrasound and CT guidance will undoubtedly be incorporated more into the pain management practice. This review is based on a paucity of clinical evidence to compare these guidance technologies; clearly, more clinical studies is needed to further elucidate the pro and cons of each guidance method for various pain management interventions.

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The Impact of Skeletal Muscle Depletion on Head and Neck Squamous Cell Carcinoma

Background: Skeletal muscle depletion and sarcopenia have been reported as poor prognostic factors for several types of cancer. The aim of this study was to investigate the prognostic impact of skeletal muscle depletion and sarcopenia on the outcomes in head and neck cancer patients. Methods: Patients with head and neck squamous cell carcinoma (HNSCC) treated from January 2013 to June 2014 were included in this study. The pretreatment cross-sectional area of skeletal muscle at the third lumbar vertebra (L3) was measured by computed tomography image analysis using the ImageJ software. L3 skeletal muscle index (SMI) and fat-free mass (FFM) were calculated. Results: Eighty-five patients with HNSCC were included. The cut-off value of sarcopenia was set at SMI #x3c;46.7 cm²/m² (males) and 30.3 cm²/m² (females). The cut-off value of FFM was set at 42.3 kg (males) and 30.6 kg (females). Patients with a low SMI (sarcopenia) and low FFM had a significantly poorer prognosis than others, especially those who received definitive radiotherapy. Sarcopenia and low FFM are independent factors for poor prognosis in patients with HNSCC. Conclusion: The skeletal muscle area at L3 should be calculated when considering treatment options for head and neck cancer.
ORL 2018;80:1–9

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Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series

Purpose: To report the association of optic nerve head (ONH) drusen with Best vitelliform macular dystrophy (BVMD). Methods: Chart review. Patients: Five patients from 3 families. Results: Multimodal imaging and ophthalmic examination demonstrated findings consistent with ONH drusen, in association with BVMD, in 5 patients. Conclusion: We report the association of BVMD with ONH drusen in 5 patients. This combination has previously been reported only once. We recommend that patients with a diagnosis of BVMD undergo autofluorescence and ultrasound imaging of the optic nerve to help facilitate this diagnosis, as some ONH drusen can be buried.
Case Rep Ophthalmol 2018;9:76–86

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