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Banaszak Beata - - 2012
Recently, a number of reports have highlighted changes in the histopathology and response to corticosteroid treatment in childhood nephrotic syndrome; however, these involved ethnically mixed populations. For comparison, the purpose of our research was to search for changes in the characteristics of nephrotic syndrome in a homogeneous population of Caucasian ...
Diamanti-Kandarakis Evanthia - - 2012
Polycystic ovary syndrome (PCOS) is a complex syndrome of unclear etiopathogenesis characterized by heterogeneity in phenotypic manifestations. The clinical phenotype of PCOS includes reproductive and hormonal aberrations, namely anovulation and hyperandrogenism, which coexist with metabolic disturbances. Reflecting the crosstalk between the reproductive system and metabolic tissues, obesity not only deteriorates ...
McDonnell A M - - 2012
Methylene blue has been used not only as a diagnostic agent, but also as an agent in the treatment of ifosfamide-induced encephalopathy (IIE) for several years. Recently, several cases of suspected serotonin syndrome have been reported in patients who received methylene blue in combination with serotonin active agents. Rodent models ...
Davison J E - - 2012
Mucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N-acetylgalactosamine-6-sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with neurological involvement nor with intellectual ...
Sofou Kalliopi - - 2012
BACKGROUND: Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1. AIMS: To investigate the phenotypic-genotypic correlations in Alpers syndrome and to identify potential differences among patients with Alpers syndrome with or without pathogenic POLG1 mutations. ...
Tarcin Ozlem - - 2012
Abstract Background: Obesity and metabolic syndrome are major health problems worldwide, including Turkey. Recent studies have shown an association between thyroid function tests and metabolic syndrome parameters. In this study, we aimed to determine the frequency of metabolic syndrome in an obese Turkish population and the relationship between metabolic syndrome ...
Arnold A W - - 2012
Background:  There is confusion in the literature concerning disorders caused by EBP (emopamil- binding protein) mutations in males. Objective:  To study the clinical and genetic differences in males affected either with Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata, CDPX2) or with a nonmosaic, X-linked recessive disorder for which we propose the ...
Mugele Josh - - 2012
Serotonin syndrome is associated with use of certain street drugs, including methamphetamine, cocaine, and ecstasy. We describe a case of a woman who developed clinical findings consistent with serotonin syndrome after insufflation of 3,4-methylenedioxypyrovalerone (MDPV), a synthetic amphetamine. MDPV belongs to a group of substances called phenylethylamines, which are β-ketone ...
Abdalla Ebtesam Mohamed EM Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. - - 2012
To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome. Non-interventional case report. A 13-year-old girl underwent complete genetic clinical evaluation comprising detailed family history taking with pedigree construction in addition to a thorough clinical examination and a number of investigations. A cytogenetic study, molecular testing ...
Kover Sara T ST Waisman Center, University of Wisconsin-Madison, Wisconsin, USA. - - 2012
In this study, the authors examined the impact of sampling context on multiple aspects of expressive language in male participants with fragile X syndrome in comparison to male participants with Down syndrome or typical development. Participants with fragile X syndrome ( n = 27), ages 10-17 years, were matched groupwise ...
Carvajal Fernando - - 2012
The processing of facial expressions of emotions by 23 adults with Down syndrome and moderate intellectual disability was compared with that of adults with intellectual disability of other etiologies (24 matched in cognitive level and 26 with mild intellectual disability). Each participant performed 4 tasks of the Florida Affect Battery ...
van de Steeg Evita - - 2012
Bilirubin, a breakdown product of heme, is normally glucuronidated and excreted by the liver into bile. Failure of this system can lead to a buildup of conjugated bilirubin in the blood, resulting in jaundice. The mechanistic basis of bilirubin excretion and hyperbilirubinemia syndromes is largely understood, but that of Rotor ...
Lehnhardt Anja - - 2012
Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure. We report a minor variant of Pierson syndrome in a teenage girl with severe myopia since early infancy and proteinuria first detected at ...
Coon Brian G - - 2012
Lowe syndrome is a devastating, X-linked genetic disease characterized by the presence of congenital cataracts, profound learning disabilities and renal dysfunction. Unfortunately, children affected with Lowe Syndrome often die early of health complications including renal failure. Although this syndrome was first described in the early 1950s and the affected gene, ...
Putnam Kelly K Graduate Center for Nutritional Sciences, University of Kentucky, Lexington, 40536-0200, - - 2012
The renin-angiotensin system (RAS) is an important therapeutic target in the treatment of hypertension. Obesity has emerged as a primary contributor to essential hypertension in the United States and clusters with other metabolic disorders (hyperglycemia, hypertension, high triglycerides, low HDL cholesterol) defined within the metabolic syndrome. In addition to hypertension, ...
Mirzaa Ghayda M - - 2012
The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the megalencephaly-capillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 ...
Canzonetta Claudia - - 2012
Children with Down syndrome have a 20- to 50-fold increased risk of acute lymphocytic or myeloid leukaemia. Whole or partial gains of chromosome 21 have been described in multiple childhood leukaemias, and have recently been reported as a likely primary event in B-precursor-acute lymphoblastic leukaemia. It is unclear which amplified ...
Eker Hasan Hüsey In - - 2012
This study aims to assess the frequency and factors relevant to metabolic syndrome in workers employed in the collection and disposal of solid waste sector. This cross-sectional study was conducted in the major solid waste collecting and disposal company named İSTAÇ AŞ (İstanbul Environmental Protection and Waste Processing Corporation) in ...
Appenzeller Simone - - 2012
Although antiphospholipid syndrome (APS) is a multisystem prothrombotic condition, its inflammatory nature has been increasingly recognized in recent years. Stroke and transitory ischemic attacks are the neurological manifestations included in APS criteria, however many other neurological involvements have been attributed to antiphospholipid antibodies (aPL), such as seizures, transverse myelitis, and ...
Uzel André-Pierre - - 2012
We report a case of anterior thigh compartment syndrome, which occurred after man's thigh was bruised after flipping repeatedly over his bike and being hit by the frame of the bike nearly at around 6 pm. The next day at 1:30 am, he was admitted to the hospital. The initial ...
Curtis Ashley R - - 2012
Trigeminal trophic syndrome (TTS) is the historic name for neuropathic self-induced facial ulceration from abnormal sensory symptoms leading to uncontrolled scratching. Anatomic co-localization of sensory loss (numbness) plus neuropathic itch and pain permits painless scratching. If the itch is severe, some patients will scratch to the point of causing self-injury. ...
Kavanagh David - - 2012
Atypical hemolytic uremic syndrome is a disease associated with mutations in the genes encoding the complement regulators factors H and I. In addition, factor H autoantibodies have been reported in ∼10% of patients with atypical hemolytic uremic syndrome. This study searched for the presence of factor I autoantibodies in atypical ...
Svingen T - - 2012
Kallmann syndrome is a form of hypogonadotropic hypogonadism also associated with the loss of smell. It is a phenotypically and genetically heterogeneous disorder, with mutations in several known causative genes now accounting for approximately 30% of cases. The prevalence for the disease is also much higher in males than in ...
Gallant A R - - 2012
The rising prevalence of obesity is a global concern. Eating behaviour and circadian rhythm are proving to be important factors in the aetiology of obesity. The night-eating syndrome (NES) is characterized by increased late-night eating, insomnia, a depressed mood and distress. It is evident that prevalence is higher among weight-related ...
Garcia-Velasco Juan A - - 2012
Agonist triggering combined with oocyte vitrification and ET in a subsequent natural cycle avoids ovarian hyperstimulation syndrome in patients at risk and shows excellent cycle outcome.
Khocht A A Department of Periodontology and Oral Implantology, Temple University School of Dentistry, Philadelphia, PA 19140, USA. - - 2012
The subgingival microbiota in Down syndrome and non-Down syndrome adults receiving periodic dental care was examined for 40 bacterial species using checkerboard DNA-DNA hybridization and the results were related to clinical periodontal attachment loss. A total of 44 Down syndrome, 66 non-Down syndrome mentally retarded and 83 mentally normal adults ...
Valika Ali A - - 2012
Heart failure syndromes are often associated with multi-organ dysfunction, and concomitant liver, renal, and neurologic involvement is very common. Neuro-hormonal antagonism plays a key role in the management of this syndrome, and angiotensin-converting enzyme inhibitors and angiotensin receptor blockers are one of the cornerstones of therapy. Cardiorenal physiology is becoming ...
Yılmaz Hakkı - - 2012
We report a 53-year-old Turkish female presented with progressive weakness and mild dyspnea. Laboratory results demonstrated severe hypokalemia with hyperchloremic metabolic acidosis. The urinary anion gap was positive in the presence of acidemia, thus she was diagnosed with hypokalemic paralysis from a severe distal renal tubular acidosis (RTA). Immunologic work-up ...
Holló Gábor - - 2012
Purpose. To present a case with co-existence of Cogan-Reese syndrome and exfoliation syndrome. Case report. A 72-year-old Caucasian woman presented for consultation due to uncontrolled intraocular pressure (IOP) of the right eye. Clinical examination revealed the presence of Cogan-Reese syndrome and exfoliation syndrome OD. This eye exhibited elevated IOP, open ...
Spatola Marianna - - 2012
Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have been linked to a number of genes and loci and assigned "DYT" numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is caused by ...
Vaklavas Christos - - 2012
Advances in cancer genomics have led to the recognition of a growing number of high-penetrance single-gene cancer predisposition syndromes. Frequently, the suspicion for a hereditary syndrome is raised by a strongly positive family history. However, other features, such as younger-than-usual age at diagnosis and rare histology should also prompt consideration ...
Leroith Derek - - 2012
ABSTRACT:: The worldwide obesity epidemic has brought to the author's attention the cardiometabolic risk factors and cardiovascular disease associated with the metabolic syndrome. The emphasis on diagnosing and treating the individual risk factors should help in the prevention of the cardiovascular disease associated with obesity, the metabolic syndrome and type ...
Ito Yukiko Y Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital, - - 2012
A 47-year-old woman presented with hypokalemia (2.4 mmol/L). She also had hypomagnesemia, hypocalciuria, and hyperreninemic hyperaldosteronism. Sequence analysis revealed a compound heterozygous mutation, R655C and R955Q, in the SLC12A3 gene. These findings were compatible with Gitelman's syndrome (GS). Eplerenone, a selective aldosterone blocker, in combination with oral potassium chloride improved ...
Akhtar Farah - - 2012
A 16 years old male patient of Sturge-Weber syndrome was referred to glaucoma clinic for the management of unilateral glaucoma. There was also an ipsilateral hypermetropic shift. On detailed investigations, a diffuse choroidal haemangioma was diagnosed which induced this hypermetropic shift. Anisometropia in Sturge-Weber syndrome can give us clue regarding ...
Canna Scott W SW The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, - - 2012
The deadly macrophage activation syndrome (MAS) constitutes one of the few rheumatologic emergencies. MAS is part of a larger group of diseases referred to as hemophagocytic syndromes that are seen in infections, malignancies, or genetic immunodeficiencies. Because of the clinical similarity of these diseases, many clinicians are tempted to approach ...
Murray Jennie E JE South-east Scotland Clinical Genetics Services Western General Hospital, Edinburgh, UK. - - 2012
Cornelia de Lange Syndrome (CdLS) is a multisystem disorder with a live birth prevalence of approximately one per 15 000. Clinical diagnosis is based on a characteristic facies – low frontal hair line, short nose, triangular nasal tip, crescent shaped mouth, upturned nose, and arched eyebrows – characteristic limb defects ...
Murer Martin M Division of Internal Medicine, University Hospital Zurich, Switzerland. - - 2012
Physical activity improves the clinical course of the metabolic syndrome and its risk factors. The aim of this study was to investigate the physical activity behaviour in patients with metabolic syndrome in regard to the recommendation of the Federal Offices of Public Health (BAG) and Sports (BASPO): "to exercise half ...
De Michele Giuseppe - - 2012
The label of "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA) has been created to differentiate it from Friedreich ataxia (FRDA) patients with preserved knee jerks and absence of cardiomyopathy, optic atrophy, and diabetes mellitus. However, EOCA is a heterogeneous syndrome and several FRDA patients present with an EOCA-like phenotype. ...
Bawany Muhammad Z - - 2012
Caroli's syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and occasionally with autosomal dominant polycystic kidney disease. However, there has been only few ...
Davidoff Amy J - - 2012
Patient and physician characteristics associated with use of erythropoiesis-stimulating agents in myelodysplastic syndrome patients have not yet been described. Myelodysplastic syndrome patients diagnosed from 2001 to 2005 were identified from the Surveillance Epidemiology and End Results-Medicare database. Multivariate regressions examined the association between patient and physician characteristics and the probability ...
Mieliauskaite Diana - - 2012
The main purpose of this study was to determine the expression of interleukins-17/-23 (ILs-17/-23) and receptors of interleukins-17/-23 (IL-17R, IL-23R) in minor salivary glands (MSGs) of patients with primary Sjögren's syndrome (pSS). Expression of IL-17, IL-23 and receptors of IL-17/-23 was analyzed in MSGs from 25 patients with pSS, 25 ...
Pikula Jiri - - 2012
White-nose syndrome, associated with the fungal skin infection geomycosis, caused regional population collapse in bats in North America. Our results, based on histopathology, show the presence of white-nose syndrome in Europe. Dermatohistopathology on two bats (Myotis myotis) found dead in March 2010 with geomycosis in the Czech Republic had characteristics ...
Ledoux Mark S - - 2012
In 1984, dystonia was defined by an ad hoc committee of the Dystonia Medical Research Foundation as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements, or abnormal postures. In 2011, dystonia remains a purely clinical diagnosis. Primary ...
Cankaya Abdulkadir Burak - - 2012
Gardner's Syndrome is a variant of familial adenomatosis polyposis (FAP) with a triad consisting of polyps of the colon, multiple osteomas and surface tumors of soft and hard tissue. The intestinal polyps have a %100 risk of undergoing malignant transformation, therefore early identification of this disease is very important. There ...
Lao Xiang Qian - - 2012
The metabolic syndrome has been shown to increase the incidence of cardiovascular disease. Little information exists on the prevalence of the metabolic syndrome for southern Chinese. We therefore investigate the prevalence of the metabolic syndrome in a southern Chinese population with 85 million residents. The Guangdong Nutrition and Health Survey ...
Lieber Daniel S - - 2012
Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial ...
Cocieru Andrei - - 2012
Paragangliomas are rare neuroendocrine tumors arising from the neural crest cells in the extra-adrenal location. Paragangliomas can be sporadic or associated with a range of endocrine and genetic syndromes in 25% to 30% of all cases. Specifically, succinate dehydrogenase gene mutations are involved in the development of paraganglioma syndromes type ...
Zhao Pan - - 2012
: Up to now, few data are available regarding the clinical characteristics of autoimmune hepatitis and primary biliary cirrhosis overlap syndrome. The study was to investigate and analyze the prevalent and clinical features of Chinese patients with this disease. Clinical data on patients diagnosed as autoimmune hepatitis and primary biliary ...
Jagger Daniel J - - 2012
The increased availability of mouse models of human genetic ciliary diseases has led to advances in our understanding of the diverse cellular roles played by cilia. The family of so-called "ciliopathies" includes Alström Syndrome, Bardet-Biedl Syndrome, Primary Ciliary Dyskinesia, and Polycystic Kidney Disease, among many others. In mouse models of ...
Hunsaker Michael R - - 2012
The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is essential in order to understand the pathogenesis of many genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). The choice of which animal model is most suitable to mimic a particular disease depends on ...
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