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Zandieh Fariborz F Department of Asthma, Allergy and Immunology, Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran. - - 2014
Papillon Lefevre Syndrome ( PLS ) is a very rare genetic syndrome that only less than 500 cases have reported in the world. Patients have a typical cutaneous involvement with hyperkeratosis especially on the soles and palms and early shedding of primary teeth. Internal organs involvement such as liver abscess ...
Grønskov Karen K Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, University of Copenhagen, DK-2600 Glostrup, Denmark; Department of Cellular and Molecular Medicine, University of Copenhagen, DK-2200 Copenhagen, Denmark. Electronic address: - - 2014
A common in frame duplication in ARX (c.431_454dup24) was found in a five year-old boy who presented with mild Partington syndrome. The duplication was detected by PCR amplification followed by fragment length analysis and was located in exon 2 spanning the two polyalanine tracts commonly seen to expand. Detection of ...
Adi Ahmad H AH Head and Neck Surgery Branch, National Institute on Deafness and Other Communication Disorders; Lung and Upper Aerodigestive Cancer Research Group, Division of Cancer Prevention, National Cancer Institute; and National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, - - 2014
Background: Paraneoplastic Syndromes are systemic or organ related functional tumor-associated changes that arise distant to the tumor. Methods and Results: We present a rare case of a 63 year old male with dermatomyositis as a paraneoplastic syndrome developing more than a year prior to clinical manifestations of tonsillar squamous cell ...
Isidor Bertrand B Service de Génétique Médicale, CHU de Nantes, Nantes, France; INSERM, UMR-S 957, Nantes, - - 2014
We report on two male sibs, a fetus and a newborn, with short humeri and dysmorphic facial features including blepharophimosis. The newborn also had Hirschsprung disease. Goldberg-Shprintzen syndrome and the Say-Barber-Biesecker-Young-Simpson type of Ohdo syndrome were suspected but direct sequencing of KBP and KAT6B failed to identify a mutation. Finally, ...
McPherson Elizabeth E Department of Medical Genetics Services, Marshfield Clinic, Marshfield, - - 2014
We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre- and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies. Since SF3B4 mutations have been recently associated with Nager ...
Sharma Pradeep Kumar PK Department of Pediatric Intensive Care Unit, B L Kapur Super Speciality Hospital, New Delhi, India, - - 2014
Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population. The authors have done the genetic analysis for ...
Shim Sehwan S a  National Radiation Emergency Medical Center, Korea Cancer Center Hospital, Korea Institute of Radiological & Medical Sciences (KIRAMS), Seoul 139-706, Republic of - - 2014
Because of insufficient clinical data regarding acute radiation damage after single high-dose radiation exposure, acute radiation-induced gastrointestinal (GI) syndrome remains difficult to treat. The goal of this study was to establish an appropriate and efficient minipig model to study high-dose radiation-induced GI syndrome after radiation exposure. For endoscopic access to ...
Martínez-Martínez Laura-Aline LA From the Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, - - 2014
Fibromyalgia often coexists and overlaps with other syndromes such as chronic fatigue, irritable bowel syndrome, and interstitial cystitis. Chronic stress has been implicated in the pathogenesis of these illnesses. The sympathetic nervous system is a key element of the stress response system. Sympathetic dysfunction has been reported in these syndromes, ...
Stathopoulos Panagiotis P Department of Oral and Maxillofacial Surgery, Royal Devon and Exeter Hospital, Exeter, UK, - - 2014
Cowden syndrome is an autosomal-dominant hereditary cancer syndrome with high variability and susceptibility. It is characterized by multiple hamartomas and neoplasms of ectodermal, endodermal and mesodermal origin affecting many organs and also by the increased risk of development of internal malignancies. A 62-year-old woman was referred to our Maxillofacial Unit ...
Farmer Adam D AD Neurogastroenterology Group, Blizard Institute of Cell and Molecular Science, Wingate Institute of Neurogastroenterology, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, 26 Ashfield Street, London, E1 2AJ, UK, - - 2014
Quantitative and qualitative abnormalities in visceral function have been demonstrated in postural orthostatic tachycardia syndrome. Joint hypermobility is frequently associated with both postural orthostatic tachycardia syndrome and gastrointestinal symptoms. Future studies in this area should appropriately and systematically control for the presence of joint hypermobility syndrome.
Takahashi Tsuyoshi - - 2014
Extra-adrenal pheochromocytomas are termed paragangliomas. Paragangliomas in the mediastinum, especially the superior mediastinum, are extremely rare. It is known that paragangliomas or pheochromocytomas occur in combination with von Hippel-Lindau syndrome. We present the case of a non-functional superior mediastinal paraganglioma in a patient with von Hippel-Lindau syndrome, without a familial ...
Takane Kiyoko - - 2014
Paraneoplastic syndromes are disorders associated with clinical signs and symptoms caused by substances produced by malignant disease and are not directly related to the physical effects of a primary or metastatic tumor. We describe a patient with gastrointestinal stromal tumor of the stomach accompanied by nephrotic syndrome as paraneoplastic syndrome ...
Pichard Dominique C DC Department of Dermatology, Georgetown University Hospital/Washington Hospital Center, Washington, - - 2014
IMPORTANCE The differential diagnosis for oral lentigines includes several syndromes with important associated systemic findings. McCune-Albright syndrome (MAS), a mosaic condition associated with café au lait pigmentation, is not typically considered a mucosal lentiginosis syndrome. The clinical phenotype of MAS is variable because of mosaicism, but oral pigmentation developing in ...
Ornek Nurgül N Department of Ophthalmology, Kırıkkale University School of Medicine , Kırıkkale , - - 2014
Abstract Rieger syndrome (RS) is a multiple malformation syndrome characterized by ocular manifestations and extraocular defects. Herein, we report a 9-year-old boy who exhibited Rieger Syndrome phenotype as well as congenital hypothyroidism which may be an underappreciated feature of RS.
Dupont H L HL St Luke's Medical Center, and Baylor College of Medicine, The University of Texas School of Public Health, Houston, TX, - - 2014
Irritable bowel syndrome (IBS) is a prevalent gastrointestinal disease with a substantial social and economic burden. Treatment options remain limited and research on the aetiology and pathophysiology of this multifactorial disease is ongoing. To discuss the potential role of gut microbiota in the pathophysiology of IBS and to identify possible ...
Marks Katherine C KC Department of Dermatology, Geisinger Medical Center, Danville, - - 2014
Basan syndrome is an extremely rare ectodermal dysplasia with autosomal dominant inheritance and variable expressivity. The etiology of Basan syndrome remains unknown. To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease. Sequencing of the coding regions and splice ...
Wang Zhigang Z Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, P.R - - 2014
Polydactyly is a common congenital limb deformity. This anomaly may occur in isolation (non-syndromic) or as part of a syndrome. The glioma-associated oncogene family zinc finger 3 (GLI3) is known to be associated with both syndromic and non-syndromic polydactyly. GLI3 plays a predominant role in the pathogenesis of syndromic polydactyly: ...
Siau Richard T K RT Welsh Centre for Burns and Plastic Surgery, Morriston Hospital, Swansea SA1 6NL, United Kingdom. Electronic address: - - 2014
Lambert-Eaton myasthenic syndrome is a paraneoplastic phenomenon associated with neuroendocrine tumours, most frequently small cell lung carcinoma. Merkel cell carcinoma is a rare cause of Lambert-Eaton myasthenic syndrome. A 70-year old gentleman was referred with metastatic axillary nodal disease from a previously resected Merkel cell carcinoma of the left arm. ...
Wilson Robert J RJ Vanderbilt Orthopaedic Institute, Vanderbilt University Medical Center, Nashville, - - 2014
Nerve entrapment syndromes are common in instrumental musicians. Carpal tunnel syndrome, ulnar neuropathy at the elbow, and thoracic outlet syndrome appear to be the most common. While electrodiagnostic studies may confirm the diagnosis of nerve entrapment, they may be falsely normal in musicians. Non-operative treatment with instrument and technique modification ...
Siu Alan A Department of Neurological Surgery, George Washington University; - - 2014
There is no known correlation between Down syndrome and craniosynostosis. The authors report 2 infants with trisomy 21 and right unilateral coronal craniosynostosis. Both patients were clinically asymptomatic but displayed characteristic craniofacial features associated with each disorder. One patient underwent a bilateral fronto-orbital advancement and the other underwent an endoscopically ...
Chavan Rahul N RN Department of Dermatology, Mayo Clinic, - - 2014
In patients with malignancy-associated Sweet syndrome, a thorough evaluation for leukemia cutis should be considered. We sought to describe the clinicopathologic characteristics of histiocytoid Sweet syndrome. We retrospectively identified patients with histiocytoid Sweet syndrome at our institution from January 1992 through December 2010. We evaluated the underlying cutaneous infiltrate using ...
Ghoshal Uday C UC Uday C Ghoshal, Deepakshi Srivastava, Department of Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226104, - - 2014
Irritable bowel syndrome (IBS) is a common condition characterized by abdominal pain or discomfort, bloating, and altered stool form and passage. Small intestinal bacterial overgrowth (SIBO) is a condition in which there is overgrowth of bacteria in small bowel in excess of 10(5) colony forming units per milliliter on culture ...
Mulak Agata A Agata Mulak, Department of Gastroenterology and Hepatology, Wroclaw Medical University, 50-556 Wroclaw, - - 2014
Compelling evidence indicates sex and gender differences in epidemiology, symptomatology, pathophysiology, and treatment outcome in irritable bowel syndrome (IBS). Based on the female predominance as well as the correlation between IBS symptoms and hormonal status, several models have been proposed to examine the role of sex hormones in gastrointestinal (GI) ...
Hong Sung Noh SN Sung Noh Hong, Poong-Lyul Rhee, Division of Gastroenterology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, South - - 2014
Irritable bowel syndrome (IBS) is the most prevalent functional gastrointestinal disorder. It is a multifactorial disorder. Intestinal microbiota may cause the pathogenesis of IBS by contributing to abnormal gastrointestinal motility, low-grade inflammation, visceral hypersensitivity, communication in the gut-brain axis, and so on. Previous attempts to identify the intestinal microbiota composition ...
Tumgor Gokhan G Gokhan Tumgor, Department of Pediatric Gastroenterology, Cukurova University Medical Faculty, 01380 Sarıcam, Adana, - - 2014
liver disease, intrapulmonary vascular dilatation and arterial hypoxemia. HPS is reported to be present in 4% to 32% of adult patients with end-stage liver disease and in 9%-20% of children. The pathogenesis of HPS has not been clearly identified. Portal hypertension causes impairment in the perfusion of the bowel and ...
Kanazawa N N Department of Dermatology, Wakayama Medical University, 811-1 Kimiidera, Wakayama, 641-0012, - - 2014
we read with great interest the report of a case of CANDLE syndrome by Kluk et al.(1) As they described in the manuscript, CANDLE syndrome shares clinical manifestations and genetic origin with JMP syndrome and Nakajo-Nishimura syndrome. However, they diagnosed their Bangladeshi case as CANDLE syndrome without any clear differentiation. Since ...
Boyd Alan S AS Department of Medicine (Dermatology), Vanderbilt University; Department of Pathology, Vanderbilt University. Electronic address: - - 2014
Patients with Munchausen syndrome purposefully injure themselves, often with the injection of foreign materials, to gain hospital admission and the attention associated with having a difficult-to-identify condition. Munchausen syndrome by proxy occurs when a child's caregiver, typically the mother, injures the child for the same reasons. Cases of Munchausen syndrome ...
Arora Harleen H Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, - - 2014
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to ...
Jacquinet Adeline A Department of Medical Genetics, CHU and University of Liège, Liège, - - 2014
We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of ...
Byrne John G JG Brigham and Women's Hospital, Boston, - - 2014
In the manuscript by Rylski et al.(1) in this issue of Circulation, the authors investigate the long-term outcomes of repair for Type A aortic dissection in Marfan's patients. Marfan's syndrome (MFS) is one of the genetic syndromes associated with thoracic aortic aneurysms and aortic dissection. The syndrome is the results ...
Szanto Paula P Department of Gastroenterology, Regional Institute of Gastroenterology and Hepatology Prof. Dr.Octavian Fodor; 3rd Medical Clinic, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania. - - 2014
Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing ...
Venkatesan E P EP Department of Neurology, PSG Institute of Medical Science and Research, Coimbatore, - - 2014
We report a 55-year-old female who presented to the emergency department with acute onset quadriparesis. She was diagnosed to have acquired immunodeficiency syndrome 7 years ago and was on tenofovir based anti-retroviral therapy for past 10 months. As the patient also had hypophosphatemia, glucosuria and proteinuria Fanconi syndrome (FS) was ...
König J J School of Health and Medical Sciences, Faculty of Medicine and Health, Örebro University, 701 82 Örebro, - - 2014
The intestinal microbiota forms a complex ecosystem that is in close contact with its host and has an important impact on health. An increasing number of disorders are associated with disturbances in this ecosystem. Also patients suffering from irritable bowel syndrome (IBS) show an altered composition of their gut microbiota. ...
Arimoto Yukiko Y Division of Otolaryngology, Chiba Children's Hospital, - - 2014
Waardenburg syndrome is characterized by hearing loss, pigmentation abnormalities, dysmorphologic features, and neurological phenotypes. Waardenburg syndrome consists of four distinct subtypes, and SOX10 mutations have been identified in type II and type IV. Type IV differs from type II owing to the presence of Hirschsprung disease. We identified a de ...
Hsu Peter P Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, New South Wales, - - 2014
CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome.
Siddiqui Aazim A AA NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust, UCL Institute of Ophthalmology, London, UK; Imperial College School of Medicine, Imperial College London, London, - - 2014
William John Adie was an Australian neurologist in the early 20th century responsible for extensively describing the tonically dilated pupil associated with absent deep tendon reflexes - both features of a syndrome that now bears his name. In addition to other neurological syndromes, he was also significant in delineating narcolepsy ...
Wain Karen E KE Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, - - 2014
Heterozygous loss-of-function SMAD4 mutations are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit symptoms of both conditions, leading to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome. Three families have been reported with connective tissue abnormalities. To better understand the spectrum and extent of clinical findings in SMAD4 carriers, ...
Moroni Maria - - 2014
Abstract Purpose: To characterize Acute Radiation Syndrome (ARS) sequelae at doses intermediate between the bone marrow (H-ARS) and full gastrointestinal (GI-ARS) syndrome. Methods: Male minipigs, approximately 5 months old, 9-12 kg in weight, were irradiated with Cobalt-60 (total body, bilateral gamma irradiation, 0.6 Gy/min). Endpoints were 10-day survival, gastrointestinal histology, ...
Baker Lauren A LA University of Texas Southwestern Medical School, Dallas, - - 2014
We report a patient with oral-facial-digital syndrome type 1 (OFDS1) who exhibited features overlapping those of nevus comedonicus syndrome, an unusual presentation that may potentially represent a new variant of OFDS1. OFDS1 and nevus comedonicus syndrome represent two rare syndromes with numerous overlapping features that have yet to be described ...
Yi Tingfang T Texas A&M Health Science - - 2014
AGR syndrome (the clinical triad of Aniridia, Genitourinary anomalies and mental Retardation, a subgroup of WAGR syndrome for Wilms tumor, Aniridia, Genitourinary anomalies and mental Retardation) is a rare syndrome caused by a contiguous gene deletion in the 11p13-14 region. However, the mechanisms of WAGR syndrome pathogenesis are elusive. In ...
Katsiki Niki N Second Propedeutic Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, Hippocration Hospital, Thessaloniki, - - 2014
Response to: Duprez D, Toleuova A. Prehypertension and the cardiometabolic syndrome: pathological and clinical consequences. Expert Rev Cardiovasc Ther 2013;11(12):1725-33.
Hernando Mónica M Department of Otolaryngology, Hospital Universitario de Fuenlabrada, Universidad Rey Juan Carlos, Madrid, Spain. Electronic address: - - 2014
We describe a case with Wildervanck syndrome (cervico-oculo-acoustic syndrome) comprising Klippel-Feil anomaly, retractio bulbi (Duane syndrome), and congenital sensorineural deafness. An 18-month male baby had a severe inner ear dysplasia, and MRI also showed a complex vascular carotid malformation associated.
Napeñas Joel J - - 2014
Numerous oral manifestations associated with salivary gland dysfunction, and particularly Sjögren's syndrome, have been reported in the literature. This article discusses the evidence on a wide range of oral manifestations associated with Sjögren's syndrome.
Ienopoli Sabatino - - 2014
Sjögren syndrome is a chronic autoimmune disease that typically affects the salivary and lacrimal glands. Aside from the common glandular signs and symptoms, Sjögren syndrome may also cause mononuclear infiltration and immune complex deposition involving extraglandular sites producing several extraglandular manifestations (EGM). The prevalence of EGMs varies greatly depending on ...
Bettington Mark M *Envoi Specialist Pathologists †The Conjoint Gastroenterology Laboratory **Cancer and Population Studies Group, Queensland Institute of Medical Research, Bancroft Centre ‡School of Medicine, University of Queensland §Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston #Sullivan Nicolaides Pathology, Taringa, QLD ∥Department of Anatomical Pathology, PathWest, QE II Medical Centre ¶School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, - - 2014
Cronkhite-Canada syndrome is a rare protein-losing enteropathy, classically characterized by ectodermal changes and gastrointestinal polyposis. The etiology remains obscure but immune dysregulation may be important. The diagnosis of Cronkhite-Canada syndrome in the upper gastrointestinal tract is challenging, frequently resulting in delayed patient management. In this study, we described the initial ...
Boeckxstaens Guy G Department of Gastroenterology, University of Leuven, Leuven, - - 2014
Irritable bowel syndrome is a prevalent and chronic disorder, characterized by recurrent abdominal pain/discomfort, bloating and altered bowel habits. This condition affects an estimated 10-15% of the population worldwide and impacts heavily on a patient's daily life and ability to work, as well as healthcare resource utilization. Drug therapy aimed ...
Stanisic Vladimir V Division of Gastroenterology and Hepatology, Houston Methodist, Houston, TX, - - 2014
The nature and clinical implications of irritable bowel syndrome (IBS)-type symptoms in patients with inflammatory bowel disease (IBD) who are in apparent remission have generated considerable debate. While, on the one hand, these symptoms satisfy Rome III criteria for IBS and their occurrence correlates highly with anxiety, a known trigger ...
Qu Qiang Q Department of General Surgery, Peking Union Medical College Hospital, Beijing, - - 2014
Patients with hepatocellular carcinoma (HCC) may develop paraneoplastic syndromes in the clinical course. These syndromes include hypercholesterolemia, hypoglycemia, hypercalcemia, and erythrocytosis, among others. This study was designed to assess the role of prognostic influence of paraneoplastic syndromes in patients with HCC. In a cohort of 175 patients with HCC patients, ...
Ohmes Cameon M CM Department of Clinical Sciences, College of Veterinary Medicine, Kansas State University, 1800 Denison Avenue, Manhattan, Kansas 66502, USA (Ohmes, Davis, Beard); Department of Clinical Sciences, College of Veterinary Medicine, University of Illinois, 1008 West Hazelwood Drive, Champaign, Illinois 61802, USA (Vander Werf); Department of Clinical Sciences, College of Veterinary Medicine, Purdue University, Lynn Hall, 625 Harrison Street, West Lafayette, Indiana 47907, USA (Bianco); Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey Street, Philadelphia, Pennsylvania 19104, USA - - 2014
Two Quarter horses with weight loss had glucosuria, euglycemia, and a mild metabolic acidosis suggesting a proximal renal tubular defect. Further testing revealed transient generalized aminoaciduria, lactic aciduria, and glucosuria, indicating Fanconi syndrome. Both horses recovered with supportive therapy. This is the first report of acquired Fanconi syndrome in horses.
Vu Anthony T AT Division of Plastic, Reconstructive, and Hand Surgery, University of Cincinnati; and the Division of Plastic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; and the Department of Plastic Surgery, Institute of Reconstructive Surgery, New York University, New York, - - 2014
We present 4 patients, 4 months to 10 years of age, with thoracic outlet syndrome. All were referred to the brachial plexus clinic. Three patients were diagnosed with vascular thoracic outlet syndrome after clinical evaluation and diagnostic imaging. Three had a cervical rib and 1 had an anomalous first rib. ...
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