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Lee Soo Hyun - - 2011
Churg-Strauss syndrome (CSS) is a multisystem granulomatous vasculitis that is characterized by peripheral eosinophilia and the infiltration of eosinophils into systemic organs. The skin lesions of CSS consist mainly of palpable purpura and nodules. Wells' syndrome (WS) is a rare inflammatory dermatosis that is associated with recurrent granulomatous dermatitis and ...
Chen Ling - - 2011
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with vascular malformation(s) of the brain (leptomeningeal angioma) with or without glaucoma. Herein, we reported Sturge-Weber syndrome in a 50-year-old man, who presented port-wine hemangiomas and epilepsy. In this ...
Nho Ji-Sung - - 2011
Rett syndrome is a neurological disease that occurs only in females and it manifests with mental retardation, seizures, movement disorders, autistic behavior and abnormal breathing. A 19-year-old female with Rett syndrome underwent ophthalmologic surgery under general anesthesia at our institution. Airway control was difficult due to her limited mouth opening. ...
Shaikh Z S - - 2011
This article describes the sequence of acute clinical deterioration seen in a head and neck oncology patient who developed serotonin syndrome peri-operatively. It highlights the clinical dilemma that can be encountered when a septic picture masks the onset of serotonin syndrome and reinforces the importance of awareness of the potential ...
Chandravanshi Shivcharan L - - 2011
The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning 'prematurely old'. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2) and ...
Andresen Viola - - 2011
Irritable bowel syndrome is characterized by chronic abdominal symptoms and irregular bowel movements without any cause than can be revealed by routine diagnostic assessment. In recent years, its pathophysiology has come to be much better understood, and new therapeutic approaches have been developed. These advances were taken into consideration and ...
Karafin M - - 2011
Noonan syndrome, a distinctive syndrome characterized by dysmorphism, cardiac abnormalities and developmental delay, has been associated with a number of malignancies, however, only a few cases of primary glial or glioneuronal neoplasms have been reported. We report here the case of an 18-year-old with Noonan syndrome who developed a rosette ...
Watt Kymberly D KD Division of Gastroenterology and Hepatology, William J. von Liebig Transplant Center, Mayo Clinic and Foundation, Rochester, MN 55905, USA. - - 2011
1. Metabolic syndrome (MS) is common after liver transplantation and has been associated with increased risks of cardiovascular disease, cardiovascular death, liver-related death, and overall mortality. 2. Immunosuppression may increase the frequency of hyperlipidemia, diabetes, and hypertension and thus increase the risk and prevalence of MS after transplantation. 3. Corticosteroids ...
Cassab Tatiana Vialôgo TV Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, - - 2011
The G/BBB syndrome is a rare condition characterized by hypertelorism, cleft lip and palate, and hypospadias. No studies were found on the hearing of individuals with this syndrome. To investigate the auditory function in patients with G/BBB syndrome, such as the occurrence of hearing loss, and central and peripheral auditory ...
Farzin Faraz F Department of Psychology, University of California, Davis, CA 95616, USA. - - 2011
Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism. Individuals with fragile X syndrome present with a neurobehavioural phenotype that includes selective deficits in spatiotemporal visual perception associated with neural processing in frontal-parietal networks of the brain. The goal ...
Quinlan Nicky N Geriatric Research, Education, and Clinical Center, Veterans Affairs Boston Healthcare System, Boston, MA 02130, - - 2011
Frailty and delirium, although seemingly distinct syndromes, both result in significant negative health outcomes in older adults. Frailty and delirium may be different clinical expressions of a shared vulnerability to stress in older adults, and future research will determine whether this vulnerability is age related, pathological, genetic, environmental, or most ...
Sabbagh Marwan N MN The Cleo Roberts Center for Clinical Research, Banner Sun Health Research Institute, 101515 W Santa Fe Dr, Sun City, AZ 85351, USA. - - 2011
Down syndrome appears to be associated with a virtually certain risk of fibrillar amyloid-β (Aβ) pathology by the age of 40 and a very high risk of dementia at older ages. The positron emission tomography (PET) ligand florbetapir F18 has been shown to characterize fibrillar Aβ in the living human ...
Allen Jeffrey A JA Northwestern University Feinberg School of Medicine, Chicago, Illinois, - - 2011
Eosinophilia-myalgia syndrome (EMS) is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration. An epidemic of EMS in 1989 was linked to consumption of L-tryptophan that had originated from a single source. Following the ban by the Food and Drug Administration (FDA) on ...
Porcel José M - - 2011
Bilateral pleural effusions usually have a single causative factor, such as heart failure or malignancy. Contarini's syndrome refers to the occurrence of bilateral pleural fluid accumulation which can be explained by a different cause for each side. Literature search finds, along with 5 new descriptions from our center, totaled 12 ...
Takahashi Hidetoshi - - 2011
Psoriasis is a chronic inflammatory and immune-mediated disease associated with several comorbidities, such as obesity, hypertension, diabetes mellitus, dyslipidemia and cardiovascular disorder. These comorbidities are components of metabolic syndrome. The pathogenesis of metabolic syndrome is supposed to be related to increased levels of adipocytokines, such as tumor necrosis factor-α (TNF-α) ...
Welander Jenny - - 2011
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel ...
De Souza Rebecca A G - - 2011
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome Lindhurt, Marjorie J. et all The New England Journal of Medicine 2011; 365:611-9.
- - 2011
The Tumor Lysis Syndrome Correspondence, N Engl J Med 2011;365:571-574. In the first letter, from Elinoff et al. (page 571), the fourth sentence should have read, "He subsequently had acute intravascular hemolysis, with the hemoglobin level decreasing from 13.1 to 4.5 g per deciliter . . . ," rather than ". . . from ...
Cubeddu Luigi X - - 2011
Abstract Objective: The aim of this study was to determine if an increasing number of traits of metabolic syndrome was associated with an increased severity of each of the traits. Methods: A cohort of otherwise healthy 387 Latin-American subjects was evaluated for traits of metabolic syndrome according to National Cholesterol ...
Reidy M - - 2012
2-5% of patients undergoing hip or knee arthroplasty develop a symptomatic DVT; there is evidence to suggest that without prophylaxis 40-60% of patients have a subclinical DVT. This can be reduced by around half with appropriate thromboprophylaxis; there still remains a significant incidence of subclinical DVT. Therefore, it is important ...
De Smet Hyo Jung - - 2011
The posterior fossa syndrome (PFS) consists of transient cerebellar mutism, cognitive symptoms and neurobehavioural abnormalities that typically develop in children following posterior fossa tumour resection. Although PFS has been documented in more than 350 paediatric cases, reports of adult patients with a vascular aetiology are extremely rare. In addition, the ...
Corgosinho Flavia Campos - - 2011
Obesity is a chronic inflammatory disease and is considered a risk factor for metabolic syndrome. In this study, 57 obese adolescents with and without metabolic syndrome underwent 1 year of weight loss therapy. At baseline, the metabolic syndrome (MS) patients presented higher values of PAI-1 than the non-metabolic syndrome patients (n-MS). ...
Joe Soo Geun - - 2011
We report the first case of Susac syndrome in Koreans, in a 23-yr-old female patient who presented with sudden visual loss and associated neurological symptoms. Ophthalmic examination and fluorescein angiography showed multiple areas of branch retinal artery occlusion, which tended to recur in both eyes. Magnetic resonance imaging showed dot-like, ...
Blaser Martin J - - 2011
Beginning in early May 2011, northern Germany was the principal site of a massive epidemic of bloody diarrhea and the hemolytic-uremic syndrome caused by Shiga-toxin-producing Escherichia coli. By the time the outbreak ended in early July, there were reports of more than 4000 illnesses, 800 cases of the hemolytic-uremic syndrome, ...
Stenczer Balázs - - 2011
BACKGROUND: Preeclampsia is characterised by an imbalance of circulating pro- and anti-angiogenic factors. The syndrome of haemolysis, elevated liver enzymes and low platelet count (HELLP) develops mostly on the ground of preeclampsia, and one of its important features is the severe disturbance of the coagulation system, intravascular coagulopathy. Thrombospondin-1 (TSP-1) ...
Nathan Senthil T - - 2012
The purpose of this study was to systematically review the available evidence on lumbar paraspinal compartment syndrome with specific reference to patient demographics, aetiology, types, diagnosis, clinical features, and treatment. This was an Institutional Review Board-exempt study performed at a Level 1 trauma center. A PubMed search was conducted with ...
Hunter Michael P - - 2011
Intersectin 1 (ITSN1) is a human chromosome 21 (HSA21) gene product encoding a multidomain scaffold protein that functions in endocytosis, signal transduction, and is implicated in Down's syndrome, Alzheimer's Disease, and potentially other neurodegenerative diseases through activation of c-Jun N-terminal kinase. We report for the first time that ITSN1 proteins ...
Schneider Susanne A SA Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany. - - 2012
In recent years, understanding of the syndromes of neurodegeneration with brain iron accumulation (NBIA) has grown considerably. In addition to the core syndromes of pantothenate kinsase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified. The acknowledged clinical spectrum has broadened, age-dependent presentations have ...
Wit Jan M - - 2011
Aromatase, an enzyme located in the endoplasmic reticulum of estrogen-producing cells, catalyzes the rate-limiting step in the conversion of androgens to estrogens in many tissues. The clinical features of patients with defects in CYP19A1, the gene encoding aromatase, have revealed a major role for this enzyme in epiphyseal plate closure, ...
O'Connell David - - 2011
Abstract Alagille syndrome is a rare autosomal dominant condition characterised by mutation in Jagged1 gene. Intracranial aneurysms may be seen in this condition and may present as subarachnoid hemorrhage.We describe the first case of superior cerebellar aneurysm rupture causing WFNS grade 1 subarachnoid haemorrhage in a 17-year-old girl. The clinical ...
Grover Sandeep - - 2011
PURPOSE: To study the prevalence of metabolic syndrome in patients with bipolar disorder. MATERIAL AND METHOD: By using purposive random sampling 200 patients with bipolar disorder receiving treatment were evaluated for presence of metabolic syndrome using International Diabetes Federation (IDF) and modified National Cholesterol Education Program Adult Treatment Panel III ...
Rashid Lewis - - 2012
Pancreatectomy affects gastrointestinal (GI) symptoms. Our purpose was to assess the quality of life of pancreatectomy patients in relation to GI function. Pancreatectomy patients were asked qualitative, open-ended questions about symptoms. They also completed the Gastrointestinal Symptom Rating Scale (GSRS) for reflux syndrome, acute pain syndrome, indigestion syndrome, diarrhoea syndrome ...
Sobral Samanthado Prado - - 2011
Abstract Objective: To describe oral manifestations in Brazilian individuals with Kabuki Syndrome (KS), a multiple congenital anomaly/mental retardation syndrome. Study design: Sixteen KS individuals aged between 8 to 24 years of both sexes were referred by the Department of Clinical Genetics, for oral treatment and follow-up, to the Oral Care ...
Setijowati E D - - 2011
We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI type III) based on clinical and radiological findings. Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of ...
Panigrahi Inusha - - 2011
Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical ...
Jung Kyu Dong - - 2011
Although periorbital edema is a common manifestation of dermatomyositis (DM), generalized subcutaneous edema associated with DM is extremely rare. Evans syndrome is an autoimmune disease in which an individual's antibodies attack one's own red blood cells and platelets. Evans syndrome is rarely a presenting feature of DM. DM has been ...
Aktas Zeynep - - 2011
PURPOSE:: The purpose of the study was to report a patient with Seckel syndrome associated with high intraocular pressures despite intensive antiglaucoma treatment. METHODS:: Case report. RESULTS:: High intraocular pressure readings in both eyes measured with the Goldman applanation tonometer, bilateral pigmentary retinopathy and total cupping of optic discs were ...
Phukan Julie J Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, - - 2011
The dystonias are a heterogeneous group of hyperkinetic movement disorders characterised by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Dystonia syndromes represent common movement disorders and yet are often misdiagnosed or unrecognised. In recent years, there have been substantial advances in the understanding of the ...
Santonja Carlos - - 2011
Papular-purpuric "gloves and socks" syndrome is a distinctive dermatosis featuring acral pruritus, edema, and petechiae. It has been attributed in most-but not all-reported cases to Parvovirus B19 infection, on the grounds of serological proof of recent infection or detection of viral DNA by polymerase chain reaction in patient serum or ...
Anar Ceyda - - 2011
Objective: To report a case of Churg-Strauss syndrome who had asthma and allergic rhinitis treated with montelukast. Clinical Presentation and Intervention: A nonsmoking 59-year-old woman presented with fever, hemoptysis and dyspnea. Past medical history included allergic rhinitis and asthma which were diagnosed 18 years ago. The asthma was treated successfully ...
Mathew Robert - - 2011
IntroductionThere are no well-established criteria for patients with corticobasal syndrome. The authors have attempted to clarify this area by comparing and applying three sets of well-known criteria (from Toronto, the Mayo Clinic and Cambridge).Patient and methodsThe authors first compared the three criteria for overlap and differences, and then applied them ...
Pelegrín Laura - - 2012
Bilateral ocular ischemic syndrome and ischemic optic neuropathy have rarely been reported as initial manifestations of Takayasu arteritis (TA). Appearance of ocular symptoms in TA is related to the extent and severity of involvement of the aorta and its major branches. We report a case of bilateral ocular ischemic syndrome ...
Basu P Patrick PP Gastroenterology, Hepatology, and Liver Transplant, Columbia University College of Physicians and Surgeons, New York, NY 10032, United States. - - 2011
To determine the prevalence of restless legs syndrome (RLS) in patients with irritable bowel syndrome (IBS). Patients with diarrhea-predominant IBS (n = 30), constipation-predominant IBS (n = 30), or mixed-symptom IBS (n = 30) were recruited from the community between March 2008 and February 2009. Rifaximin 200 mg three times ...
Yoshino Jun J Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, - - 2011
In this issue of Molecular Cell, Hirschey et al. demonstrate that loss of the NAD(+)-dependent deacetylase SIRT3 and resultant mitochondrial protein hyperacetylation play a critical role in the pathogenesis of metabolic syndrome, providing new insights into the therapeutic potential of SIRT3.
Uihlein Lily C - - 2011
  The objective of this study was to describe the clinical features of Sweet syndrome in children. Our study population consisted of seven children diagnosed with Sweet syndrome over a 22-year period. Age, sex, appearance and location of lesions, associated signs and symptoms, past medical history, pathology, and subsequent disease ...
Middleton Kim - - 2011
Terson syndrome is a known complication of subarachnoid hemorrhage (SAH) that causes potentially reversible vision loss. It develops after SAH because of vitreous hemorrhage caused by retinal capillary disruption. Case series report an incidence of Terson syndrome in approximately 8%-15% of patients with SAH. Nonetheless, the medical literature regarding this ...
Breckpot Jeroen - - 2012
Congenital heart defects (CHD) are associated with the recurrent 10q22q23 deletion syndrome and with partially overlapping distal 10q23.2.q23.31 microdeletions. We report on a de novo intragenic deletion of the BMPR1A gene in a normally developing adolescent boy with short stature, delayed puberty, facial dysmorphism and an atrioventricular septal defect. Based ...
Cave Dominic - - 2011
We describe a patient with a variant of the hypoplastic left heart syndrome who died 16 weeks after a modified stage 1 Norwood from a mitochondrial DNA depletion syndrome.
Lazic Tamara - - 2011
  Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A ...
Shah Krati - - 2011
Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic genetic disorder characterized by pigmentary skin changes, distinctive dysmorphology, developmental delay, and mosaicism for tetrasomy of chromosome 12p. The authors report a case of PKS in a 2-y-old boy. He had pigmentary skin changes, characteristic facial features, developmental delay and ...
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