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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 ...
Shprecher David R DR aDepartment of Neurology bDepartment of Psychology, University of Utah, Salt Lake City, Utah, - - 2014
This update summarizes progress in understanding Tourette syndrome clinical characteristics, etiology, and treatment over the past year. Premonitory sensory phenomena were found to have important impacts on Tourette syndrome quality of life. A rare genetic form of Tourette syndrome due to L-histidine-decarboxylase mutation, with similar features in human and rodent, ...
Ercoli Gabriel G National Registry of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Ministry of Health, Buenos Aires, - - 2014
Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases ...
Hooten Kristopher G KG Department of Neurological Surgery - - 2014
Ogilvie's syndrome is a rare and potentially fatal disease that can easily be mistaken for postoperative ileus. Also known as acute colonic pseudo-obstruction, early recognition and diagnosis of the syndrome allows for treatment prior to bowel perforation and requisite abdominal surgery. The authors report a case of Ogilvie's syndrome following ...
Camilleri Michael M Clinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.), Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota. Electronic address: - - 2014
Although diarrhea is the predominant bowel dysfunction in as many as one-third of patients with irritable bowel syndrome (IBS), it is unclear whether there is a specific disorder of intestinal fluid or electrolyte secretion in IBS. Diarrhea is generally considered secondary to accelerated colonic transit in patients with IBS. Although ...
Dreznik Yael Y Department of Surgery and Transplantation, Chaim Sheba Medical Center, Tel-Hashomer, Israel, - - 2014
Mitochondrial neuro-gastrointestinal encephalomyopathy syndrome (MNGIE syndrome) is a rare genetic disorder that is defined clinically by severe gastrointestinal dysmotility, cachexia, peripheral neuropathy, ptosis and/or ophthalmoparesis, and leukoencephalopathy. We report a case of a 26-year-old man with MNGIE syndrome with a unique clinical picture consisting of recurrent episodes of spontaneous bowel ...
Jelsig Anne Marie - - 2014
Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndromes. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS ...
Couceiro J J Unidad de Mano, Servicio de Ortopedia y Traumatología, Hospital POVISA, Vigo, España. Electronic address: - - 2014
Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits 5 clinical signs, chronic intrahepatic cholestasis, characteristic facies, cardiovascular anomalies, posterior embryotoxon, and vertebral defects. If only 3 or 4 of these are present the case is considered as an incomplete form. The ...
Miyake Fuyu F Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, - - 2014
Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West ...
Weaver Lehn K LK Division of Pediatric Rheumatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, - - 2014
Macrophage activation syndrome is the rheumatic disease-associated member of a group of hyperinflammatory syndromes characterized by uncontrolled cytokine storm. In this review, we highlight recent publications related to the pathoetiology of hyperinflammatory syndromes with an emphasis on how this new knowledge will guide our diagnosis, treatment, and future research efforts ...
Stevenson David A DA Department of Pediatrics, University of Utah, Salt Lake City, UT, - - 2014
Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X-linked disorder due to mutations in PORCN, with a predominance of females affected. Germline mutations in ...
Klocperk Adam A Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic, - - 2014
Syndrome diGeorge is associated amongst other clinical signs with various degrees of thymic dysplasia, related immunodeficiency and autoimmune disorders. Helios, a transcription factor from Ikaros family, has been proposed as a marker for thymus derived Tregs. We therefore examined Helios + Tregs in a cohort of patients with genetically proven diGeorge syndrome ...
De Caridi Giovanni G Cardiovascular and Thoracic Department, University of Messina, Messina, Italy, - - 2014
Paget-Schroetter syndrome due to thoracic outlet syndrome is a rare but potentially disabling condition that generally affects young patients otherwise healthy. The prompt diagnosis and treatment of Paget-Schroetter syndrome is necessary to avoid major morbidity and long-term disability. The more modern treatment paradigm reported in the current literature consists of ...
Thajudeen Anees A Cedars Sinai Heart Institute, Los Angeles, CA United States; Cardiology Department, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, - - 2014
All the authors have full access to the data and contributed to the writing and editing of the manuscript RUNNING TITTLE: Rare Variant of Twiddler's Syndrome.
Wollmann Christian G CG III. Med. Klinik, Universitätsklinikum St. Pölten-Lilienfeld, Propst Führer-Str. 4, 3100, St. Pölten, Austria, - - 2014
This is the first case report about a patient implanted with a DF4 lead suffering from reel syndrome. The reel syndrome may occur due to a ratchet mechanism where the device generator creates torque on a lead fixed at the fixation sleeve. Theoretically, this is less likely to occur in ...
Fong Jeffrey Kah Keng JK 1 All authors: Department of Radiology, Changi General Hospital, 2 Simei St 3, 529889, - - 2014
OBJECTIVE. This article describes the typical imaging findings and clinical features that are associated with four abdominal vascular compression syndromes. We explain the underlying pathophysiology that results in these clinical syndromes so that the patient subset who will benefit from treatment can be identified. CONCLUSION. The abdominal vascular compression syndromes ...
Loghmani Khouzani Houra H Kariminejad- Najmabadi Pathology and Genetics Center, Tehran, Iran. - - 2014
Intellectual Disabilities (ID), defined as a state of developmental deficit, result in significant limitation of intellect and poor adaptation behavior. A number of genetic factors can result in ID, such as chromosomal abnormalities, copy number variation, and single gene defect. Karyotyping is the routine method for detecting chromosomal abnormalities in ...
Izumi Kosuke K The Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA, - - 2014
Pallister-Killian syndrome is a multisystem sporadic genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, seizures, diaphragmatic hernia, and other systemic abnormalities. Pallister-Killian syndrome is typically caused by the presence of a supernumerary isochromosome that is always present in a tissue limited mosaic pattern, resulting in ...
Sattler Nicolas N Service Vétérinaire Saint-Vallier, 400 montée de la station, Saint-Vallier, Québec, G0R3J0 - - 2014
This article describes hypokalemia syndrome. Lactating dairy cows seem to be at the highest risk, but younger animals may also develop the disease. At present, except for animals treated with repeated isoflupredone acetate administration, the exact determinants causing hypokalemia syndrome remain uncertain. Affected animals are anorexic, weak to recumbent, and ...
Ohye Tamae T Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi 470-1192, - - 2014
Constitutional t(11;22)(q23;q11) is the most frequent recurrent non-Robertsonian translocation in humans. Balanced carriers of t(11;22) usually manifest no clinical symptoms, and are often identified after the birth of offspring with an unbalanced form of this translocation, known as Emanuel syndrome. To determine the prevalence of the disorder, we sent surveillance ...
Zhu L-L LL Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, - - 2014
Lymphoedema-distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C.370C>T, leading to p.Leu124Phe. The ...
Buchanan Edward P EP Houston, Texas From the Division of Plastic Surgery, Baylor College of - - 2014
After studying this article, the participant should be able to: 1. Recognize the clinical presentations of commonly seen craniofacial syndromes. 2. Understand the most serious complications associated with each syndrome. 3. Formulate the best age-appropriate surgical plans. Craniofacial syndromes fall into two major categories-those associated with craniosynostosis, and those associated ...
Young S S Department of Clinical Immunology and Allergy, University of Sydney, Westmead Hospital, Sydney, - - 2014
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare but potentially life-threatening multi-system disorder characterised by the delayed onset of fever, rash and internal organ involvement following the administration of a drug. We report three definite cases of vancomycin-associated DRESS syndrome occurring and review the literature regarding ...
Bechtold Matthew L ML Departments of Medicine, University of Missouri, Columbia, MO, - - 2014
Short bowel syndrome (SBS) is a manifestation of massive resection of the intestines resulting in severe fluid, electrolyte, and vitamin/mineral deficiencies. Diet and parenteral nutrition play a large role in the management of SBS; however, pharmacologic options are becoming more readily available. These pharmacologic agents focus on reducing secretions and ...
Flannery Christopher M CM Department of Gastroenterology, Loma Linda University Medical Center, Loma Linda, California, USA and Department of Gastroenterology, Veterans Affairs Loma Linda Healthcare System Loma Linda, California, USADepartment of Gastroenterology, Loma Linda University Medical Center, Loma Linda, California, USA and Department of Gastroenterology, Veterans Affairs Loma Linda Healthcare System Loma Linda, California, USA - - 2014
Cronkhite-Canada syndrome is a rare, hamartomatous polyposis syndrome of unknown etiology. Hamartomatous gastro-intestinal polyps, alopecia, onychodystrophy, cutaneous hyperpigmentation, abdominal pain, diarrhea, and complications of weight loss are typical of the syndrome. In this report, we describe a pathological finding of colonic adenomatous polyposis as opposed to hamartomatous polyposis. We also ...
Smith Steele Clarke SC Medical Advisors, C3 International, 13210 Harbor Bl., Garden Grove, CA 92843, - - 2014
Ethan B. Russo's paper of December 1, 2003 explored the concept of a clinical endocannabinoid deficiency (CECD) underlying the pathophysiology of migraine, fibromyalgia, irritable bowel syndrome and other functional conditions alleviated by clinical cannabis. Available literature was reviewed, including searches via the National Library of medicine database and other sources. ...
Guo Yong Y Zhejiang Provincial Hospital of Traditional Chinese Medicine, Hangzhou, 310006, - - 2014
To explore the distribution characteristics of Chinese medicine (CM) syndromes and the rule of dynamic evolvement in patients with colorectal cancer at the perioperative period by applying a mathematical statistics methodology. By using the overall sample date, and cross-sectional descriptive and prospective researching methods, the clinical data of CM symptoms ...
Nguyen Giang Huong GH Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892;Department of Medical Oncology, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, United - - 2014
Bloom syndrome is a rare autosomal recessive disorder characterized by genetic instability and cancer predisposition, and caused by mutations in the gene encoding the Bloom syndrome, RecQ helicase-like (BLM) protein. To determine whether altered gene expression might be responsible for pathological features of Bloom syndrome, we analyzed mRNA and microRNA ...
Zanini Barbara B Gastroenterology Unit, University and Spedali Civili , Brescia , - - 2014
Abstract Objective. Abnormally high number of duodenal intraepithelial lymphocytes is frequently found in many conditions including mild enteropathy celiac disease (CD) and functional gastrointestinal syndromes, but is unclear whether lymphocytosis affects the clinical phenotype particularly in functional syndromes. Materials and methods. We compared clinical characteristics of celiac patients with lymphocytic ...
Lamou Hayat - - 2014
Systemic capillary leak syndrome is a rare and life threatening disease characterized by periodic episodes of hypovolemic shock due to leakage of plasma from the intravascular to the extravascular space. It is associated with hemoconcentration, hypoalbuminemia, and generalized edema. We report the case of a patient with idiopathic systemic capillary ...
Imagawa Eri E Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, - - 2014
We report on a girl with absent nails, short/absent distal phalanges of the second to fifth fingers and toes, short thumbs, absent halluces, and carpo-tarsal coalition who also had genitourinary malformations. Trio-based whole exome sequencing identified a novel de novo mutation (c.1102A>T, p.Ile368Phe) in the HOXA13 gene. Heterozygous HOXA13 mutations ...
Thakur Shruti S Department of Diagnostic Radiology, Indira Gandhi Medical College and Hospital, Shimla, Himachal Pradesh, India. Electronic address: - - 2014
Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging ...
Alders Mariëlle M Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, - - 2014
The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original HS family with multiple affected individuals in whom no CCBE1 mutation had been detected, and ...
Jackson Peter K PK Baxter Laboratory for Stem Cell Biology, Department of Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: - - 2014
In this issue, two studies from Yue Xiong and colleagues (Li et al., 2014; Yan et al., 2014) show that CUL7, OBSL1, and CCDC8, all mutated in 3M short stature syndrome, form a centrosomal complex that regulates CUL9 and its substrate survivin to link mitosis to cell survival.
Post Ivo C J H IC Department of Surgery, Spaarne Hospital, Hoofddorp, The Netherlands. Electronic address: - - 2014
Small bowel obstruction through a broad ligament defect is a very rare condition. We present two cases of which one without any associated abdominal trauma. Rapid diagnosis and treatment of this rare condition is of paramount importance.
Parvanescu Alina A Assistance Publique-Hôpitaux de Paris, Department of Hepato-Pancreato-Biliary Surgery, Hôpital Beaujon, Pôle des Maladies de l'Appareil Digestif, Clichy, France2Institut National de la Santé et de la Recherche Médicale, Unité 773, Groupe Hospitalier - - 2014
GNAS-activating mutations are reported in intraductal papillary mucinous neoplasms (IPMNs) and in McCune-Albright syndrome, characterized by fibrous dysplasia, precocious puberty, and café au lait spots. Recently, IPMNs have been described as a McCune-Albright syndrome-associated tumor, present in about 15% of patients. The aim of the present work was to assess ...
Ghoshal Uday C UC Department of Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India, - - 2014
Tropical sprue (TS), once known to be a common cause of malabsorption syndrome (MAS) in India and other tropical countries, is believed to be uncommon currently in spite of contrary evidence. Several recent studies from India showed TS to be the commonest cause of sporadic MAS in Indian adults. TS ...
Aydemir Ozge O Department of Neonatology, Etlik Zübeyde Hanım Women's Health Teaching and Research Hospital, Ankara, - - 2014
Increased echogenicity of fetal bowel in the second trimester obstetrical ultrasound has been described in association with several pathologic conditions, such as growth restriction, aneuploidy, cystic fibrosis, congenital infections, and gastrointestinal malformations. Zellweger syndrome (ZS) is the prototype of peroxisomal disorders characterized by craniofacial dysmorphism and severe neurologic abnormalities. We ...
Papaiordanou Francine F Universidade Cidade de São Paulo, São Paulo, SP, - - 2014
The yellow nail syndrome is a rare disorder characterized by the classic triad of yellow and dystrophic nails, lymphedema and pleural effusion. We report in this paper a case of yellow nail syndrome, presenting the classic triad of the disease, associated with an unusual lymph accumulation in the abdomen region.
Tsai Hsing-Fen HF Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, - - 2014
McKusick-Kaufman syndrome (MKS) is a rare autosomal recessive syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). It is very difficult to diagnose MKS prenatally because of overlapping manifestations and associated anomalies with other syndromes. Herein, we present a case of MKS with prenatal ultrasound illustrating a fetal abdominal cystic ...
- - 2014
Neuroendocrine tumors rarely occur in the cervix or other components of the reproductive system. These tumors have been associated with microsatellite instability, are very aggressive and often associated with poor outcome. Lynch syndrome is an inherited cancer syndrome that has also been associated with microsatellite instability. Here we report a ...
Kang Hyo Sung HS Division of Gastroenterology and Hepatology, Department of Internal Medicine, Korea University College of Medicine, Seoul, - - 2014
Duodenal diverticula are detected in up to 27% of patients undergoing upper gastrointestinal tract evaluation with periampullary diverticula (PAD) being the most common type. Although PAD usually do not cause symptoms, it can serve as a source of obstructive jaundice even when choledocholithiasis or tumor is not present. This duodenal ...
Kiely Clare C Department of Paediatric Dermatology, Children's University Hospital, Dublin, - - 2014
Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen ...
Cook Jason R JR Department of Pharmacology and Systems Therapeutics, Icahn School of Medicine at Mount Sinai, New York, NY, - - 2014
Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related diseases that share, with MFS, the pathogenic contribution of dysregulated transforming growth factor β (TGFβ) signaling. They include Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, aneurysm-osteoarthritis syndrome and syndromic thoracic aortic aneurysms. Unlike the ...
Verhagen Judith M A JM Department of Clinical Genetics, Erasmus Medical Center Rotterdam, The - - 2014
Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia ...
Chae Hyun-Dong HD Department of Surgery, Catholic University of Daegu School of Medicine, Daegu, - - 2014
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous ...
Moon Heejung H College of Pharmacy, Dongguk University-Seoul, Goyang, 410-820, - - 2014
Endocrine-cerebro-osteodysplasia (ECO) syndrome is a recessive genetic disorder associated with multiple congenital defects in endocrine, cerebral, and skeletal systems that is caused by a missense mutation in the mitogen-activated protein kinase-like intestinal cell kinase (ICK) gene. In algae and invertebrates, ICK homologs are involved in flagellar formation and ciliogenesis, respectively. ...
Pereira Nigel N Department of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia, PA. Electronic address: - - 2014
Herlyn-Werner-Wunderlich (HWW) syndrome is characterized by a triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The syndrome should be suspected in any young female with abdominal pain or cyclic dysmenorrhea, and radiologic evidence of Müllerian duct and renal anomalies. We present the case of a 25-year-old woman with ...
Chen Xi X *Department of Ophthalmology, David G. Cogan Laboratory of Ophthalmic Pathology, †Department of Ophthalmology, Eye Plastic, Orbital, and Cosmetic Surgery Service, Massachusetts Eye and Ear Infirmary; and ‡Harvard Medical School, Boston, Massachusetts, - - 2014
Lymphedema is caused by defective drainage of the lymphatic system. In Melkersson-Rosenthal syndrome, involvement is predominantly of the lumens with blockage of lymphatic channels by histiocytic-epithelioid cell clusters accompanied by dermal granulomas and lymphocytes. It is a localized, painless, nonitching, and nonpitting form of lymphedema. Besides the eyelids, the disease ...
Hurst Rebecca L RL Department of Neurology, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA. Electronic address: - - 2014
Cryoglobulinemic vasculitis is a rare entity. Although it has been reported in diffuse systemic sclerosis, it has not been reported in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia (CREST) syndrome. We report a patient with cryoglobulinemic vasculitis with CREST syndrome who did not have typical clinical features of vasculitis. ...
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