Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by low serum alkaline phosphatase activity and impaired bone mineralization. Clinical manifestations and severity of symptoms vary widely in HPP, ranging from in utero death to isolated dental manifestations in adults. Treatment with enzyme replacement therapy has been reported to improve outcomes in perinatal, infantile, and childhood forms of HPP. Here, we present a case of a boy with poor linear growth, mild limb bowing, and radiographic rickets who was diagnosed with HPP before 6 months of age. Treatment with enzyme replacement therapy was initiated at 7 months of age, after which significant improvements in radiographic findings and linear growth were demonstrated. This case highlights several important challenges in the diagnosis, classification, and management of HPP.
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Medicine by Alexandros G.Sfakianakis,Anapafseos 5 Agios Nikolaos,Crete 72100,Greece,tel :00302841026182 & 00306932607174
Σάββατο 31 Μαρτίου 2018
Brief Clinical Report: Hypophosphatasia—Diagnostic Considerations and Treatment Outcomes in an Infant
A Rare Case of Lemierre-Like Syndrome: A Case Report and Literature Review
Lemierre's syndrome (LS) is a serious rare complication of oropharyngeal infections. It is characterized by thrombosis of internal jugular vein that rapidly progresses into sepsis and is typically caused by anaerobes. Most of the reported cases have been linked to Fusobacterium necrophorum; however, there are a handful of reported cases due to aerobes. It is primarily the disease of healthy young adults and can present in school-aged children. The early recognition and treatment of this complication results in resolution of the illness; nevertheless, there have been some concerns about chronic venous insufficiency as a long-term complication. We report a case of a 6-year-old boy, who presented with fever and headache with a history of sore throat. His blood culture was positive for group A Streptococcus (GAS) and was subsequently found to have internal jugular vein, sigmoid, and transverse sinus vein thrombosis.
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Infectious Aortitis: A Life-Threatening Endovascular Complication of Nontyphoidal Salmonella Bacteremia
A 65-year-old Japanese man living in the United States presented with pyrexia and chills associated with intermittent lower abdominal and back pain for 5 days. He denied recent travel, rash, diarrhea, or rectal bleeding. Physical examination revealed spiking pyrexia, and routine laboratory tests revealed mild leukocytosis and neutrophilia. Abdominal CT with contrast showed findings highly compatible with aortitis. Comprehensive autoimmune evaluation was negative. Salmonella enterica serotype Enteritidis was isolated from blood cultures. IV antibiotics were administered, but the patient continued to experience low-grade pyrexia and mild leukocytosis, and follow-up abdominal CT showed progressive aortic inflammation. The patient therefore underwent resection of the affected aortic segment with in-situ graft replacement and lifelong suppressive antibiotics. The patient is asymptomatic with no complications at 18 weeks of follow-up. This case report illustrates that patients with infectious aortitis from nontyphoidal Salmonella may (1) present with nonspecific and nonlocalizing symptoms and signs except for sepsis; (2) have diagnostic blood cultures and abdominal CT findings; and (3) typically require aggressive, prolonged IV antibiotic therapy and surgery for potential cure of this life-threatening infection.
https://ift.tt/2J939cF
A Large Grade 5 Mobile Aortic Arch Atheromatous Plaque: Cause of Cerebrovascular Accident
Aortic atheromas (aortic atheromatous plaques) are defined by an irregular thickening of the intima ≥2 mm, and a complex plaque is defined as a protruding atheroma ≥4 mm with or without an attached mobile component. Stroke incidence is approximately 25% in patients with mobile plaques of the aortic arch and 2% in patients with quiescent nonmobile plaques. Antiplatelet agents, oral anticoagulants, and statins have been suggested in the management of atheromas. We present an 80-year-old male, with non-ST-segment elevation myocardial infarction (NSTEMI) and chronic dysarthria, found to have an acute cerebrovascular accident (CVA) secondary to embolism from a large 12 mm aortic arch plaque, treated medically with oral antiplatelet therapy, anticoagulation, and statin therapy.
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Multiple roles of lymphatic vessels in tumor progression
Qiaoli Ma | Lothar C Dieterich | Michael Detmar
https://ift.tt/2pTZNlS
Next generation natural killer cells for cancer immunotherapy: the promise of genetic engineering
May Daher | Katayoun Rezvani
https://ift.tt/2GspGzm
The safety and risk factors of revision adenoidectomy in children and adolescents: A nationwide retrospective population-based cohort study
To investigate the safety of adenoidectomy and risk factors of re-adenoidectomy, and intend to provide evidence-based information to clinicians for further consideration.
https://ift.tt/2pWg8pW
Multimodality Surgical Approach in Management of Laryngotracheal Stenosis
Introduction. Postintubation laryngotracheal stenosis requires a precise diagnosis and an experienced operator in both endoscopic and surgical treatment. This report presents surgically treated cases of laryngotracheal stenosis secondary to long-term intubation/tracheostomy with review of the literature. Materials and Methods. In this retrospective study, we present 5 cases (a 23-year-old male, 13-year-old male, 22-year-old male, 19-year-old male, and 33-year-old female) of postintubation/tracheostomy laryngotracheal (glottic/subglottic) stenosis in the years 2016 and 2017. Each patient was managed differently. Intubation characteristics, localization of stenosis, surgical technique and material, postoperative complications, and survival of patients were recorded. Results. The site of stenosis was in the subglottis in 4 patients and glottis in 1 patient. The mean length of the stenosis was greater in the postintubation group. Postintubation stenosis had a mean duration of intubation of 6.8 days, compared to 206.25 days of cannulation following tracheostomies. Each patient underwent an average of 2 procedures during their treatment course. One patient underwent open surgical anastomosis because of recurrent subglottic stenosis after multiple treatments. Phonation improved immediately in almost all except in the patient who underwent only endoscopic dilatation. Discussion. The reasons for laryngeal stenosis and its delayed diagnosis have been reviewed from the literature. Suture tension should be appropriate, and placement of the suture knot outside the trachea minimizes formation of granulation tissue. The published reports suggest that resection by endoscopy with laser and open technique resection and primary anastomosis are the best treatment modality so far as the long-term results are concerned. Conclusion. Resection of stenotic segment by open surgical anastomosis and laser-assisted resection is a safe option for the treatment of subglottic stenosis following intubation without the need for repeated dilation. Endoscopic dilation can be reserved for unfit patients.
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Spinal Accessory Nerve Duplication: A Case Report and Literature Review
Aim of the present study is to expand our knowledge of the anatomy of the 11th cranial nerve and discuss the clinical importance and literature pertaining to accessory nerve duplication. We present one case of duplicated spinal accessory nerve in a patient undergoing neck dissection for oral cavity cancer. The literature review confirms the extremely rare diagnosis of a duplicated accessory nerve. Its clinical implication is of great importance. From this finding, a further extension to our knowledge of the existing anatomy is proposed.
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Safety and Efficacy of a Halobetasol/Tazarotene Fixed Combination in the Treatment of Moderate-to-Severe Plaque Psoriasis: Results of two Phase 3 randomized controlled trials
Topical corticosteroids are the mainstay of psoriasis treatment; long-term safety concerns limit use. Combination with tazarotene may optimize efficacy, minimizing safety/tolerability concerns, In patients with moderate-to-severe plaque psoriasis treated with HP/TAZ lotion, improvement is noted within 2 weeks with few adverse effects observed after 8 weeks., HP/TAZ lotion may provide a realistic topical option for psoriasis management
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An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children
Source:International Journal of Pediatric Otorhinolaryngology, Volume 109
Author(s): Liang Chye Goh, Ali Azman, Hufaidah binti Konting Siti, Wee Vien Khoo, Premala a/p Muthukumarasamy, Meow Keong Thong, Zulkiflee Abu Bakar, Anura Michelle Manuel
ObjectiveTo study the audiological outcome and early screening of pre-school going children with craniosynostosis under follow-up at the University of Malaya Medical Center(UMMC), Kuala Lumpur, Malaysia over a 10 year period.MethodsA retrospective descriptive cohort study on the audiological findings detected during the first hearing assessment done on a child with craniosynostosis using otoacoustic emissions, pure tone audiometry or auditory brainstem response examination. The main aim of this study was to evaluate the type and severity of hearing loss when compared between syndromic and non-sydromic craniosynostosis, and other associated contributory factors.ResultsA total of 31 patients with 62 ears consisting of 14 male patients and 17 female patients were evaluated. Twenty two patients (71%) were syndromic and 9 (29%) were non-syndromic craniosynostosis. Amongst the syndromic craniosynostosis, 9 (41%) had Apert syndrome, 7 (32%) had Crouzon syndrome, 5 (23%) had Pfieffer syndrome and 1 (4%) had Shaethre Chotzen syndrome. Patients with syndromic craniosynostosis were more likely to present with all types and severity of hearing loss, including severe to profound sensorineural hearing loss while children with non-syndromic craniosynostosis were likely to present with normal hearing (p < 0.05). In addition, when the first hearing test was done at a later age, a hearing loss including sensorineural hearing loss is more likely to be present in a child with syndromic craniosynostosis (p < 0.05).ConclusionOur study suggested that children who are born with syndromic craniosynostosis were more likely to suffer from a hearing loss, including that of a severe to profound degree compared to children with non-syndromic craniosynostosis. In addition to that, hearing loss is more likely to be detected when the first hearing test is done at a later age, and this can be an irreversible sensorineural hearing loss. We would like to advocate the need for early audiological screening and follow up in children with syndromic craniosynostosis.
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Surgical timing for bilateral simultaneous cochlear implants: When is best?
Publication date: June 2018
Source:International Journal of Pediatric Otorhinolaryngology, Volume 109
Author(s): Sebastiano Franchella, Roberto Bovo, Luigia Bandolin, Flavia Gheller, Silvia Montino, Daniele Borsetto, Sara Ghiselli, Alessandro Martini
IntroductionHearing loss is considered the most common congenital disease and the prevalence of neonatal deafness can be estimated between 1 and 2 cases per 1000 live births.Infant deafness must be diagnosed as early as possible and an effective therapeutic intervention needs to be carried out in order to avoid the serious consequences of hearing deprivation during the evolutionary period: alterations in the development of central auditory pathways and lack of language acquisition.The cochlear implant (CI) has proved to be the best instrument to solve the problem of auditory deprivation. In particular, the bilateral CI gives the patient access to binaural hearing which results in benefits in terms of sound localisation and discrimination.The optimal age of application of the CI is a widely discussed topic in the scientific community and the current guidelines indicate a period between 12 and 24 months of age, even though the supporters of the application before 12 months of age are nowadays increasing.Materials and methodsThe study is observational, retrospective, monocentric. 49 paediatric patients (<18 years) with simultaneous bilateral CIs were included. The audiometric threshold and speech tests were carried out during the follow-up 3, 6 and 12 months after the CIs activation and when the patient reached 2 years of age.ResultsThe statistical analysis showed that undergoing bilateral implantation surgery before 2 years of age allows a satisfactory audiometric performance, while there are no particular benefits in performing the surgery before 1 year of age. As far as the speech outcome is concerned, the statistical analysis didn't show significant correlation between the earlier age of implantation and better speech performance if the operation is carried out before 2.5 years of age.ConclusionsThe results of the study indicate that the optimal age to perform the simultaneous bilateral CIs surgery is between 12 and 24 months, without demonstrating any particular benefit in carrying out the procedure before 1 year of age. This may be clinically relevant in terms of avoiding the risks of diagnostic mistakes and reducing the related surgical risk in children under 1 year of age.
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Editorial board
Source:Annales de Dermatologie et de Vénéréologie, Volume 145, Issue 3
https://ift.tt/2J9mvhZ
Actinomycose révélée par une ulcération du palais et de la gencive
Source:Annales de Dermatologie et de Vénéréologie, Volume 145, Issue 3
Author(s): F. Dessirier, J.-P. Arnault, J. Denamps, H. Sevestre, C. Attencourt, C. Lok
IntroductionL'actinomycose est une infection bactérienne granulomateuse chronique extensive. Elle est rarement révélée par une ulcération buccale.ObservationUne femme diabétique de 76 ans était traitée par dabrafenib pour un mélanome stade IV. Lors d'une consultation de suivi, on constatait deux lésions ulcérées du palais dur et de la gencive, infiltrées et hyperalgiques. Il n'y avait pas de signe associé. Le bilan biologique était sans particularité. La première hypothèse diagnostique évoquée était celle d'un carcinome épidermoïde muqueux survenu sous inhibiteurs de BRAF, bien que cette situation soit très peu décrite dans la littérature. L'examen histologique montrait un grain actinomycosique. La tomodensitométrie du massif facial ne montrait pas d'ostéite. Une antibiothérapie par amoxicilline était instaurée pendant quatre mois, avec une évolution favorable.DiscussionLes actinomycètes sont des bactéries filamenteuses Gram positif, saprophytes de la cavité buccale et du tractus gastro-intestinal, qui deviennent pathogènes sous l'influence de plusieurs facteurs. L'atteinte cervico-faciale, sous la forme d'un nodule inflammatoire péri-mandibulaire avec fistulisation secondaire à la peau ou dans la bouche, est la présentation la plus classique de l'actinomycose. Aucun cas d'infection opportuniste n'a été décrit à notre connaissance sous inhibiteurs de BRAF ; seuls deux cas de tuberculose ont été rapportés avec le sorafenib. Chez notre patiente, les soins dentaires et le diabète sont les deux facteurs favorisants retenus. Nous rappelons par ailleurs l'importance de l'examen des muqueuses chez les patients traités par inhibiteurs de BRAF.BackgroundActinomycosis is a chronic and extensive granulomatous, bacterial infection. Revelation by oral ulceration is rare.Patients and methodsA 76-year-old patient with diabetes was treated with dabrafenib for stage IV melanoma. A follow-up visit revealed two ulcerated, infiltrated and hyperalgesic lesions of the palate and gingiva. There were no associated signs. The laboratory findings were normal. The possibility of squamous cell carcinoma occurring with BRAF inhibitors was discussed, despite the rarity of such cases in the literature. Histological examination showed an actinomycotic grain. A scan of the facial mass showed no osteitis. Antimicrobial therapy was initiated with amoxicillin for four months, with a favorable outcome.DiscussionActinomycetes are Gram-positive filamentous saprophytic bacteria of the oral cavity and the gastrointestinal tract. They can become pathogenic under the influence of several factors. Cervicofacial involvement in the form of a peri-mandibular inflammatory nodule with secondary fistulation on the skin or in the mouth is the classic presentation. To our knowledge, no cases of opportunistic infection under BRAF inhibitors have been described. Only two cases of tuberculosis have been reported with sorafenib. The initial presentation led to suspicion of squamous cell carcinoma. In our patient, poor oral hygiene and diabetes were the two key factors considered. Moreover, this is the first case reported under dabrafenib, which does not appear to be a favoring factor. We would stress the importance of mucosal examination in patients treated with BRAF inhibitors.
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Hydrochlorothiazide et cancers cutanés
Source:Annales de Dermatologie et de Vénéréologie, Volume 145, Issue 3
Author(s): J.-L. Schmutz
https://ift.tt/2J6RRFI
Thyroid Cartilage Window Approach to Extract a Foreign Body after Migration into the Paraglottic Space
We report a case of fish bone impaction in the paraglottic space, which caused palsy of the left vocal cord. The patient was a 45-year-old man. He presented with throat pain and hoarseness of voice for approximately one week. The diagnosis was made after careful history taking and confirmed by the use of computed tomography scan as the fish bone was not visible endoscopically under local and general anaesthesia. The patient underwent thyroid cartilage window approach, and the fish bone was retrieved. His symptoms have improved significantly, and he did not require tracheostomy. Other cases reported the removal of foreign bodies by other techniques such as laryngofissure and posterolateral approach. Our case is different in that we used a modification of thyroplasty type 1 technique as it has less reported complications than other approaches that were published in literature.
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Soft Palate Pleomorphic Adenoma of a Minor Salivary Gland: An Unusual Presentation
Approximately 10% of pleomorphic adenomas occur in the minor salivary glands with the palate being the most common site. Pleomorphic adenomas account for the majority of palatal tumours; however, minor salivary gland tumours have a higher risk of malignancy compared to tumours of the major salivary glands, so appropriate diagnostic evaluation should be prompt. We present a case of a 52-year-old man with a longstanding history of a soft palate pleomorphic adenoma which required excision under general anaesthetic via a mandibular swing approach. As well as the surgical approach to access this tumour; this case is unique as it is the largest soft palate pleomorphic adenoma reported in the literature. We discuss the appropriate preoperative investigations and airway considerations for this patient, as well as the factors to consider when planning operative management of palatal tumours.
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Correction to: Esophagus perforation and myocardial penetration caused by swallowing of a foreign body leading to a misdiagnosis of acute coronary syndrome: a case report
In the publication of this article [1], the Acknowledgements section was missing.
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Coronary artery fistula with associated Takotsubo cardiomyopathy: a case report
Coronary artery fistula, first described by Krause in 1865, is an abnormal communication between the coronary artery and one of the four chambers of the heart or one of the great vessels. The communications ar...
https://ift.tt/2GpAtuh
Induction of a central memory and stem cell memory phenotype in functionally active CD4 + and CD8 + CAR T cells produced in an automated good manufacturing practice system for the treatment of CD19 + acute lymphoblastic leukemia
Abstract
Relapsed/refractory B-precursor acute lymphoblastic leukemia (pre-B ALL) remains a major therapeutic challenge. Chimeric antigen receptor (CAR) T cells are promising treatment options. Central memory T cells (Tcm) and stem cell-like memory T cells (Tscm) are known to promote sustained proliferation and persistence after T-cell therapy, constituting essential preconditions for treatment efficacy. Therefore, we set up a protocol for anti-CD19 CAR T-cell generation aiming at high Tcm/Tscm numbers. 100 ml peripheral blood from pediatric pre-B ALL patients was processed including CD4+/CD8+-separation, T-cell activation with modified anti-CD3/-CD28 reagents and transduction with a 4-1BB-based second generation CAR lentiviral vector. The process was performed on a closed, automated device requiring additional manual/open steps under clean room conditions. The clinical situation of these critically ill and refractory patients with leukemia leads to inconsistent cellular compositions at start of the procedure including high blast counts and low T-cell numbers with exhausted phenotype. Nevertheless, a robust T-cell product was achieved (mean CD4+ = 50%, CD8+ = 39%, transduction = 27%, Tcm = 50%, Tscm = 46%). Strong proliferative potential (up to > 100-fold), specific cytotoxicity and low expression of co-inhibitory molecules were documented. CAR T cells significantly released TH1 cytokines IFN-γ, TNF-α and IL-2 upon target-recognition. In conclusion, partly automated GMP-generation of CAR T cells from critically small blood samples was feasible with a new stimulation protocol that leads to high functionality and expansion potential, balanced CD4/CD8 ratios and a conversion to a Tcm/Tscm phenotype.
https://ift.tt/2pYofmf
Stability of allergens
Source:Molecular Immunology
Author(s): Judith Pekar, Davide Ret, Eva Untersmayr
For proteins to cause IgE-mediated allergic reactions, several common characteristics have to be defined, including small molecular size, solubility and stability to changing pH levels and enzymatic degradation. Nevertheless, these features are not unique for potent allergens, but are also observed in non-allergenic proteins. Due to the increasing awareness by regulatory authorities regarding the allergy pandemic, definition of characteristics unique to potent allergens would facilitate allergenicity assessment in the future. Despite major research efforts even to date the features unique for major allergens have not been elucidated so far. The route of allergen entry into the organism determines to a great extent these required characteristics. Especially orally ingested allergens are exposed to the harsh milieu of the gastrointestinal tract but might additionally be influenced by food processing. Depending on molecular properties such as disulphide bonds contributing to protein fold and formation of conformational IgE epitopes, posttranslational protein modification or protein food matrix interactions, enzymatic and thermal stability might differ between allergens. Moreover, also ligand binding influences structural stability. In the current review article, we aim at highlighting specific characteristics and molecular pattern contributing to a stabilized protein structure and overall allergenicity.
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Nebulized lidocaine ameliorates allergic airway inflammation via downregulation of TLR2
Source:Molecular Immunology, Volume 97
Author(s): Lixia Wang, Muzi Wang, Shuai Li, Huimei Wu, Qiying Shen, Shihai Zhang, Lei Fang, Rongyu Liu
Nebulized lidocaine has been suggested to be beneficial in asthma therapy, but the underlying mechanisms are little known. We aimed to investigate whether Toll-like receptor (TLR) 2 was involved in the protective effect of lidocaine on allergic airway inflammation. Female C57BL/6 mice were sensitized and challenged with ovalbumin (OVA). Meanwhile, some of the mice were treated with TLR2 agonist (Pam3CSK4, 100 μg) intraperitoneally in combination with OVA on day 0. Just after allergen provocation, mice were treated with inhaled lidocaine or vehicle for 30 min. In this model, we found that lidocaine markedly attenuated OVA-evoked airway inflammation, leukocyte recruitment and mucus production. Moreover, lidocaine abrogated the increased concentrations of T cytokines and TNF-α in bronchoalveolar lavage fluid (BALF) of allergic mice, as well as reducing the expression of phosphorylated nuclear factor (P-NF)-κBp65 and the NOD-like receptor pyridine containing 3 (NLRP3), which are important for the production of pro-inflammatory cytokines. In addition, our study showed that lidocaine dramatically decreased OVA-induced increased expression of TLR2 in the lung tissues. Furthermore, activation of TLR2 aggravated OVA-challenged airway inflammation, meanwhile, it also elevated OVA-induced expression of P-NF-κBp65 and NLRP3 in the lungs. However, lidocaine effectively inhibited airway inflammation and counteracted the expression of P-NF-κBp65 and NLRP3 in allergic mice pretreated with Pam3CSK4. Taken together, the present study demonstrated that lidocaine prevented allergic airway inflammation via TLR2 in an OVA-induced murine allergic airway inflammation model. TLR2/NF-κB/NLRP3 pathway may serve as a promising therapeutic strategy for allergic airway inflammation.
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New insights into the structure of the MHC class I peptide-loading complex and mechanisms of TAP inhibition by viral immune evasion proteins
Source:Molecular Immunology
Author(s): Patrique Praest, A. Manuel Liaci, Friedrich Förster, Emmanuel J.H.J. Wiertz
Several hundred million years of co-evolution of vertebrates and invading pathogens have shaped the adaptive immune system to fight back the unwanted invaders through highly sophisticated defense mechanisms. Herpesviruses manage to dodge this immune response by hampering one of the central hinges of human adaptive immunity, the major histocompatibility complex (MHC) class I antigen presentation pathway. One of the bottlenecks of this pathway is the loading of pathogen-derived peptides onto MHC-I molecules in the endoplasmic reticulum (ER). This task is accomplished by the MHC class I peptide-loading complex (PLC), of which the transporter associated with antigen-processing (TAP) is a central component. In this review, we summarize recent structural and functional insights into the molecular architecture of the PLC, how TAP accomplishes the transport of peptides across the ER membrane, and how herpes- and poxviruses inhibit TAP-mediated peptide translocation and subsequent antigen presentation.
https://ift.tt/2J3KL4Z
Pre-diagnostic dynamic HPV16 IgG seropositivity and risk of oropharyngeal cancer: Methodologic issues
Source:Oral Oncology
Author(s): Karen S. Anderson, Jon Mork, Hilde Langseth, Garrick Wallstrom
https://ift.tt/2GXSG32