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Yamaguchi Junya J Clinical Genetic Oncology, Cancer Institute Hospital, Japanese Foundation for Cancer Research, - - 2014
Juvenile polyposis syndrome is an autosomal dominant inherited disorder characterized by multiple juvenile polyps arising in the gastrointestinal tract and an increased risk of gastrointestinal cancers, specifically colon cancer. BMPR1A and SMAD4 germline mutations have been found in patients with juvenile polyposis syndrome. We identified a BMPR1A mutation, which involves ...
Slim Mahmoud M Instituto de Neurociencias "Federico Olóriz", Universidad de Granada, Avenida de Madrid, 11., 18012, Granada, - - 2014
Fibromyalgia syndrome is characterized by chronic generalized pain accompanied by a broad symptomatologic spectrum. Besides chronic fatigue, sleep disturbances, headaches and cognitive dysfunction that are extensively described in the literature, a considerable proportion of patients with fibromyalgia experience gastrointestinal symptoms that are commonly overlooked in the studies that are not ...
Ratzinger Gudrun G Department of Dermatology and Venereology, Medical University Innsbruck, Anichstrasse 35, 6020 Innsbruck, - - 2014
Background: Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. Objective: ...
Zhou Hong-Tao HT Laboratory of Emerging Infectious Diseases and Division of Laboratory Medicine, Zhujiang Hospital, Southern Medical University, Guangzhou, 510282, - - 2014
Some viruses, including certain members of enterovirus [Au?2], have been reported to cause nephrotic syndrome. However, no case of coxsackievirus A16 (CVA16)-related nephrotic syndrome has been reported so far. We describe a case of CVA16-related hand, foot and mouth disease presenting with nephrotic syndrome in a 3-year-old boy. This is ...
Kanaji Nobuhiro N Nobuhiro Kanaji, Naoki Watanabe, Nobuyuki Kita, Shuji Bandoh, Akira Tadokoro, Tomoya Ishii, Hiroaki Dobashi, Takuya Matsunaga, Department of Internal Medicine, Division of Endocrinology and Metabolism, Hematology, Rheumatology and Respiratory Medicine, Faculty of Medicine, Kagawa University, Kagawa 761-0793, - - 2014
Paraneoplastic syndromes are signs or symptoms that occur as a result of organ or tissue damage at locations remote from the site of the primary tumor or metastases. Paraneoplastic syndromes associated with lung cancer can impair various organ functions and include neurologic, endocrine, dermatologic, rheumatologic, hematologic, and ophthalmological syndromes, as ...
Koganemaru Hiroshi H Department of Infectious Diseases, Faculty of Medicine, University of Tsukuba, Japan. Electronic address: - - 2014
A 37-year-old, human immunodeficiency virus-1-infected Japanese man was referred because of nephrotic syndrome following emergence of generalized skin rash. Serological tests for syphilis turned out to be positive within ten months of the referral. Abdominal echography incidentally revealed a solitary intrahepatic mass without a detectable blood flow in segment 7. ...
Fujii Katsunori K Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, - - 2014
Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is an autosomal dominant neurocutaneous disease, characterized by developmental anomalies such as palmar pits and rib anomaly, and tumorigenesis such as medulloblastoma and basal cell carcinoma. This syndrome is mainly caused by a mutation of PTCH1, a human homologue of Drosophila ...
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, ...
Haghshenas Zahra Z Department of Pediatrics, Bahrami Hospital, Damavand Ave., Kiani St., Tehran, - - 2014
Michelin tire baby syndrome is a rare syndrome, diagnosed clinically by multiple circumferential skin folds. Multiple noncutaneous anomalies have been described with this syndrome. We report a case of Michelin tire baby syndrome with congenital panhypopituitarism. To date, there is no report of association between these two disorders.
Mullin Gerard E GE Division of Gastroenterology and Hepatology, Johns Hopkins University School of Medicine, Baltimore, - - 2014
Irritable bowel syndrome is a complex disorder whose pathophysiology involves alterations in the enteric microbiota, visceral hypersensitivity, gut immune/barrier function, hypothalamic-pituitary-adrenal axis regulation, neurotransmitters, stress response, psychological factors, and more. The importance of diet in the management of irritable bowel syndrome has taken center stage in recent times as the ...
Kammal Naglaa M NM Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt. E-mail. - - 2014
Toe tourniquet syndrome refers to external, mechanical, circumferential constriction of the toes. We report a series of 4 infants with toe tourniquet syndrome from Saudi Arabia who presented during wintertime with very similar symptoms (approximately 48 hours of inconsolable crying and irritability), similar involved region (toes), and similar constricting agent ...
Peyton Lauren - - 2014
Irritable bowel syndrome, a functional gastrointestinal disorder of uncertain pathophysiology, affects up to 55 million Americans. Medications available or in development include antispasmodics, antidepressants, and antidiarrheals.
Khalifa O O Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, - - 2014
Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. Characteristic features of Marshall syndrome include midfacial hypoplasia, high myopia, ...
Pires Claudio Rodrigues CR Claudio Rodrigues Pires, Edward Araujo Júnior, Adriano Czapkowski, Sebastião Marques Zanforlin Filho, Referral Center for Teaching of Diagnostic Imaging (CETRUS), São Paulo, SP 05303-000, - - 2014
Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities (spasms), agenesis of the corpus callosum and ophthalmological abnormalities (chorioretinal lacunae). The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is ...
Tandon Yasmeen K YK Yasmeen K Tandon, Department of Radiology, Case Western Reserve University-Metro Health Medical Center, Cleveland, OH 44109, United - - 2014
Craniosynostosis is a pathologic condition which is characterized by the premature fusion of cranial sutures. It may occur alone or in association with other anomalies making up various syndromes. Crouzon syndrome is the most common craniosynostosis syndrome. Bicoronal sutures fusion is most commonly involved in Crouzon syndrome. There have only ...
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 ...
Lee Kang Nyeong KN Kang Nyeong Lee, Oh Young Lee, Department of Internal Medicine, Hanyang University College of Medicine, Seoul 133-791, South - - 2014
Irritable bowel syndrome (IBS) is a functional bowel disorder without any structural or metabolic abnormalities that sufficiently explain the symptoms, which include abdominal pain and discomfort, and bowel habit changes such as diarrhea and constipation. Its pathogenesis is multifactorial: visceral hypersensitivity, dysmotility, psychosocial factors, genetic or environmental factors, dysregulation of ...
Taverniti Valentina V Valentina Taverniti, Simone Guglielmetti, Division of Food Microbiology and Bioprocessing, Department of Food, Environmental and Nutritional Sciences, Università degli Studi di Milano, 20133 Milan, - - 2014
Irritable bowel syndrome (IBS) is an intestinal functional disorder with the highest prevalence in the industrialized world. The intestinal microbiota (IM) plays a role in the pathogenesis of IBS and is not merely a consequence of this disorder. Previous research efforts have not revealed unequivocal microbiological signatures of IBS, and ...
Wall Geoffrey C GC Geoffrey C Wall, Ginelle A Bryant, Michelle M Bottenberg, Erik D Maki, Andrew R Miesner, Department of Pharmacy Practice, Drake University College of Pharmacy, Des Moines, IA 50311, United - - 2014
Irritable bowel syndrome (IBS) is one of the most common gastrointestinal disorders causing patients to seek medical treatment. It is relatively resource intensive and the source of significant morbidity. Recent insights into the pathophysiology and treatment of IBS has given clinicians more options than ever to contend with this disorder. ...
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 ...
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 ...
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 ...
Yilmaz Tonguç Utku TU Kocaeli University, School of Medicine, Department of General Surgery, Kocaeli, Turkey. Electronic address: - - 2014
Rett syndrome is a progressive neurodevelopment disorder in which MECP gene mutations are responsible and might be related to cancer. A 22 year-old girl with Rett syndrome was hospitalized for abdominal distention and shock. Abdominal tenderness and distention were revealed in physical examination. Radiological investigations revealed sigmoid volvulus and colonic ...
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 ...
Yu Wen-Zhen WZ Wen-Zhen Yu, MSN, is Supervisor Nurse, Renmin Hospital of Wuhan University, Wuhan, China, and Wuhan University, HOPE School of Nursing, Wuhan, China. Yan-Qiong Ouyang, MD, is Associate Professor, Wuhan University HOPE School of Nursing, Wuhan, China. Qian Zhang, MM, is Medical Student, Medicine School of Wuhan University, Wuhan, China. Kong-Ling Li, MBBS, is Medical Student, Medicine School of Wuhan University, Wuhan, China. Ji-Hong Chen, MD, is Professor, Renmin Hospital of Wuhan University, Wuhan, - - 2014
A significant number of patients with irritable bowel syndrome hold misconceptions about their disease and experience more impaired quality of life compared with the general population and people suffering from other chronic diseases. This study was designed to explore the effectiveness of a structured educational intervention on disease-related misconceptions and ...
Khan Mohsin M M.D.S, Masters Of Dental surgery. Department of Orthodontics and Dentofacial Orthopaedics, Bangalore, Karnataka, - - 2014
Parry Romberg syndrome(PRS) is a rare acquired poorly understood neurocutaneous syndrome of unknown etiology characterized by slow progressive atrophic changes commonly affecting one half of the face. The exact incidence and etiology towards the syndrome remains unclear. Apart from the multifactorial etiology proposed, the possible primary cause is mainly attributed ...
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. ...
Cichy Wojciech W Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, - - 2014
Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence ...
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 ...
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