Search Results
Results 251 - 300 of 1050
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Hanukoglu Aaron - - 2008
Multi-system pseudohypoaldosteronism (PHA) is a rare syndrome of aldosterone unresponsiveness characterized by symptoms of severe salt-losing caused by mutations in one of the genes that encode alpha, beta or gamma subunit of epithelial sodium channels (ENaC). We examined long-term changes in the renin-aldosterone response in patients with different mutations. Four ...
Shumyatcher Yana - - 2008
In this study, we describe the association between Duchenne muscular dystrophy (DMD) and symptomatic nephrolithiasis. The DMD patients were matched to non-ambulatory control patients with non-DMD neurological diagnoses via retrospective chart review. All patients with DMD and symptomatic nephrolithiasis were over 20 years old. We found that six of the ...
Rankin Julia J Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. - - 2008
Mutations in the LMNA gene result in diverse phenotypes including Emery Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy with conduction system disease, Dunnigan type familial partial lipodystrophy, mandibulo acral dysplasia, Hutchinson Gilford progeria syndrome, restrictive dermopathy and autosomal recessive Charcot Marie Tooth type 2. The c.1930C > T ...
van Kuilenburg A B P - - 2008
5-Fluorouracil (5FU) and capecitabine are two of the most frequently prescribed chemotherapeutic drugs for the treatment of patients with cancer. Administration of test doses of 5FU to eight patients heterozygous for the IVS14+1G > A mutation and five control patients showed that the AUC and clearance were weak parameters with ...
Elliott Alison M - - 2008
BACKGROUND: Split hand foot malformation (SHFM) (cleft hand, central ray deficiency) is a highly variable malformation that shows genetic heterogeneity with at least five loci mapped to date. SHFM occurs as an isolated finding or in association with other anomalies, including congenital heart defects (CHDs). METHODS: In total 48 SHFM1, ...
Khositseth Sookkasem - - 2008
Mutations of the human SLC4A1 gene encoding erythroid and kidney isoforms of anion exchanger 1 (AE1, band 3) result in erythrocyte abnormalities or distal renal tubular acidosis (dRTA) and such mutations are observed in Southeast Asia, where hemoglobinopathies are prevalent. Genetic and hematological studies in 18 Thai patients with dRTA ...
Yang Chih-Hsin - - 2008
Treatment with one of the epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) gefitinib or erlotinib has become an additional option for patients with non-small cell lung cancer (NSCLC). Further investigation clearly demonstrated that a subset of patients show a better response to these agents than the overall patient ...
Menko F H - - 2008
Infantile juvenile polyposis is a rare disease with severe gastrointestinal symptoms and a grave clinical course. Recently, 10q23 microdeletions involving the PTEN and BMPR1A genes were found in four patients with infantile juvenile polyposis. It was hypothesized that a combined and synergistic effect of the deletion of both genes would ...
Brautbar Ariel - - 2008
The mitochondrial 13513G>A (D393N) mutation in the ND5 subunit of the respiratory chain complex I was initially described in association with MELAS syndrome. Recent observations have linked this mutation to Leigh disease. We screened for the 13513G>A mutation in a cohort of 265 patients with Leigh and Leigh-like disease. The ...
Couce M L - - 2008
The Expanded Newborn Screening Program (MS/MS) in the region of Galicia (NW Spain) was initiated in 2000 and includes the measurement of methionine levels in dried blood spots. Between June 2000 and June 2007, 140 818 newborns were analysed, and six cases of persistent hypermethioninaemia were detected: one homocystinuria due ...
Vucic Steve - - 2008
Familial amyotrophic lateral sclerosis (FALS) is an inherited neurodegenerative disorder of the motor neurons. While 10-15% of cases are caused by mutations in the copper/zinc superoxide-dismutase-1 (SOD-1) gene, the dying-forward hypothesis, in which corticomotoneurons induce anterograde excitotoxic motoneuron degeneration, has been proposed as a potential mechanism. The present study applied ...
Klein Ophir D - - 2008
Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy, reports of rare late-onset presentations exist, with poor outcomes in males up to 58 years old. Relatives with mutations identical to affected patients often remain asymptomatic, and it is likely ...
Fischer M - - 2008
The pediatric tumor neuroblastoma is a heterogeneous disease: Patients' clinical courses can range from spontaneous regression to fatal progression of the disease. Accordingly, treatment protocols vary from "wait and see" approaches to intensive multimodal therapies. Accurate risk estimation of the patients is therefore mandatory to choose the most adequate therapy. ...
F Magitta Ng'weina - - 2008
BACKGROUND: Autoimmune polyendocrine syndrome type I (APS I) is a monogenic disease affecting endocrine glands and other organs due to mutations of the autoimmune regulator (AIRE) gene. There is a wide variability in clinical phenotypes in patients with APS I, which makes the diagnosis a challenge. OBJECTIVE: To screen for ...
Abarrategui-Garrido Cynthia - - 2008
Atypical hemolytic uremic syndrome is associated with mutations in the complement proteins factor H, factor I, factor B, C3, or membrane cofactor protein in about 50% of patients. The evolution and prognosis of the disease in patients carrying mutations in factor H is particularly poor, and renal transplantation most often ...
Lohmann Ebba - - 2008
Patients with parkin mutations are known to have slower PD progression and a better response to levodopa at lower doses than patients with idiopathic Parkinson's disease. To determine the effects of deep brain stimulation (DBS) on such patients, we have compared the follow-up after surgery of 7 patients with one ...
Du┼čunsel Ruhan - - 2008
BACKGROUND: The aim of the present study was not only to review clinical and demographic features of child-onset familial Mediterranean fever (FMF) patients but also to investigate whether there is a phenotype-genotype correlation in the same patient population. METHODS: The medical records of 102 patients with FMF were retrospectively reviewed. ...
Ikeuchi Takeshi - - 2008
BACKGROUND: Multiplication of the alpha-synuclein gene (SNCA) (OMIM 163890) has been identified as a causative mutation in hereditary Parkinson disease or dementia with Lewy bodies. OBJECTIVE: To determine the genetic, biochemical, and neuropathologic characteristics of patients with autopsy-confirmed autosomal dominant Lewy body disease, with particular reference to the dosage effects ...
Sultan Ambreen - - 2008
BACKGROUND: Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular ...
Schouwenberg Bas J - - 2008
Hypoglycemia unawareness has been linked to desensitization of the beta2-adrenergic receptor. Desensitization of the beta2-adrenergic receptor (ADRB2) is genetically determined by the Arg16Gly variant of this receptor. We tested the hypothesis that hypoglycemia unawareness is more common among patients homozygous for the Gly16 variant. We performed genotyping of the A265G ...
Zhang Sujiang - - 2008
Recent studies have shown that Janus tyrosine kinase 2 (JAK2) V617F mutation is found in nearly all patients with polycythemia vera (PV) and underlie the basis of PV molecular pathogenesis. Moreover, JAK2 V617F patients with essential thrombocythemia (ET) have been found to have some clinical features similar to PV. To ...
Weller S - - 2008
Patients with defects in the biogenesis of peroxisomes include those with Zellweger syndrome spectrum (ZSS), a developmental and progressive metabolic disease with a distinct dysmorphic phenotype and varying severity. The diagnosis of ZSS relies on the clinical presentation and the biochemical evaluation of peroxisomal metabolites. Mutation detection in one out ...
Roze E - - 2008
OBJECTIVE: To clarify the clinical and neurophysiologic spectrum of myoclonus-dystonia patients with mutations of the SGCE gene. METHODS: We prospectively studied 41 consecutive patients from 22 families with documented mutations of the SGCE gene. The patients had a standardized interview, neurologic examination, and detailed neurophysiologic examination, including surface polymyography, long-loop ...
Finsterer Josef - - 2008
With improved screening of patients with primary and secondary myopathies and more comprehensive investigations it turns out that an increasing number of patients with myopathies develops cardiac disease (cardiac involvement), before or after onset of the neuromuscular abnormalities. Cardiac involvement in myopathies manifests within the myocardium or the cardiac conduction ...
Lieu C-H - - 2008
The Janus kinase-2 (JAK-2) V617F mutation has been recently reported in patients with myeloproliferative disorders (MPD), which is believed to underlie growth factor hypersensitivity displayed by haematopoietic progenitors in these disorders. However, its frequency has been rarely determined in Taiwanese patients. The frequency of JAK2-V617F mutation in patients with polycythaemia ...
Feillet François - - 2008
BACKGROUND: The outcome in phenylketonuria is related to the early diagnosis and management due to neonatal screening. AIMS: To assess the interest of tetrahydrobiopterin (BH4) loading test and phenylalanine hydroxylase (PAH) genotyping in the management of neonates with hyperphenylalaninemia (HPA). STUDY DESIGN: We evaluate the effectiveness of a BH4 loading ...
Gomy Israel - - 2008
Gómez-López-Hernández (GLH) syndrome or cerebello-trigeminal dysplasia is a neurocutaneous syndrome whose etiology is unknown at the present time. We report two additional Brazilian patients, including the oldest one known to date (age 29). Here, we review the expanded phenotype in four patients with new clinical, psychiatric, radiological, and molecular investigations. ...
Scholl Sebastian - - 2008
BACKGROUND: Nucleophosmin (NPM1) and Flt3 internal tandem duplications (Flt3-ITD mutations) represent the most frequent molecular aberrations in patients with acute myeloid leukemia (AML). While NPM1 mutations are associated with favourable prognosis in younger AML patients, Flt3-ITD mutations reflect an unfavourable prognostic factor in these patients. So far, especially NPM1 mutations ...
Safavi-Abbasi Sam - - 2008
Genetic mutations underlying thrombophilia are often recognized in patients with thromboembolic episodes. However, the clinical and therapeutic implications of such findings often remain unclear. We report the first case of a dural arteriovenous fistula (DAVF) in a patient with a combined factor II and factor V Leiden mutation. A 40-year-old ...
Uusimaa Johanna - - 2008
PURPOSE: Polymerase gamma (POLG) is the sole enzyme in the replication of mitochondrial DNA (mtDNA). Numerous mutations in the POLG1 gene have been detected recently in patients with various phenotypes including a classic infantile-onset Alpers-Huttenlocher syndrome (AHS). Here we studied the molecular etiology of juvenile-onset AHS manifesting with status epilepticus ...
Katsumata Noriyuki - - 2008
Mutations in the X-linked AR gene cause androgen insensitivity syndrome (AIS) by impairing androgen-dependent male sex differentiation to various degree. Here we describe a partial AIS patient with confliction with the assigned female sex. Although the patient was noticed to have ambiguous genitalia at birth, the patient was reared as ...
Nakamura Akinori - - 2008
We review the clinical status of skeletal involvement and cardiac function in three unrelated patients harboring an in-frame deletion of exons 45 to 55 in the DMD gene followed up for 2 to 7 years. Two younger patients diagnosed as having X-linked dilated cardiomyopathy (XLDCM) developed congestive heart failure without ...
Hayes Jason - - 2008
Patients with Duchenne and Becker muscular dystrophy suffer from a progressive deterioration in muscle secondary to a defect in the dystrophin gene. As such, they are susceptible to perioperative respiratory, cardiac and other complications, such as rhabdomyolysis. Inhalational anesthetic agents have been implicated as a cause of acute rhabdomyolysis that ...
Tan Jessica - - 2008
We sought to identify mutations associated with treatment failure to adefovir (ADV) and to determine virologic response to tenofovir (TDF) alone and in combination with emtricitabine (FTC) in these patients. Serum samples prior to and after the change in treatment to TDF/TDF+FTC from 13 patients were analyzed by direct sequencing ...
Rossato Liana Bertolin - - 2008
BACKGROUND: Damage to mitochondrial DNA (mtDNA) has been described in patients with chronic kidney disease (CKD). The presence of mtDNA 4977bp deletion in many different tissues can serve as a marker of this damage. However, no attempt has been made to detect the presence of mtDNA 4977bp in blood cells ...
Marchesi Chiara - - 2008
BACKGROUND: Various prognostic serum and cellular markers have been identified for many diseases, such as cardiovascular diseases and tumor pathologies. Here we assessed whether the levels of certain stem cells may predict the progression of Duchenne muscular dystrophy (DMD). METHODS AND FINDINGS: The levels of several subpopulations of circulating stem ...
Yamashita Shintaro - - 2008
We examined 136 patients with mitochondrial DNA (mtDNA) deletion. Clinical diagnoses included chronic progressive external ophthalmoplegia (94 patients); Kearns-Sayre syndrome (KSS; 33 patients); Pearson's marrow-pancreas syndrome (six patients); and Leigh syndrome, Reye-like syndrome, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (one patient). The length and location of deletion ...
Hanayama Kozo - - 2008
PURPOSE: To investigate swallowing problems in patients with Duchenne muscular dystrophy (DMD) using a questionnaire and videofluorography (VF). METHOD: A questionnaire survey was performed of swallowing-related symptoms and VF in 31 male patients with DMD (mean age 19.9 years, range 9 - 26 years). The relationships among age, frequency of ...
Seghelini E - - 2008
Direct muscular stimulation is quick, simple, non-invasive and can be carried out at the patient's bedside. More importantly, it is reliable even when the patients cannot cooperate or are comatose. From the small amount of data available, it seems to be as accurate as neuromuscular biopsy in diagnosing critical illness ...
Narumi Yoko - - 2008
Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and mental retardation are more frequent in CFC syndrome. Mutations in PTPN11 and KRAS ...
Papadopoulou-Alataki Efimia - - 2008
BACKGROUND: Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent angioedema episodes caused by a quantitative or functional defect of the plasma protein C1 esterase inhibitor (C1-INH). Relapsing skin swellings, abdominal pain attacks and upper airway obstruction constitute the typical clinical manifestations. The incidence and severity of angioedema ...
Oh Sue-Hyun - - 2008
BACKGROUND: Glycogen storage disease type III (GSD-III) is an inborn error of glycogen metabolism caused by a deficiency of the glycogen debranching enzyme, amylo-1,6-glucosidase,4-alpha-glucanotransferase (AGL). Here, we describe two unrelated Korean patients with GSD-III and review their clinical and laboratory findings. METHODS: The patients were 18- and 11-month-old girls. They ...
Blokhin Andrei - - 2008
OBJECTIVE: To test if mitochondrial (mt)DNA deletions accumulate in brains of patients with multiple sclerosis (MS). BACKGROUND: Previous studies demonstrated an accumulation of oxidative damage to mtDNA and decreased activity of mitochondrial enzymes in lesions of MS, where activated immune cells produce increased amounts of reactive oxygen species and nitric ...
Whitby H - - 2008
A database of apparently benign copy number variants (bCNVs) detected by a Spectral Genomics Inc./PerkinElmer BAC array platform has been maintained through the University of Utah Comparative Genomic Hybridization laboratory since 2005. The target population for this database represents 1,275 patients with abnormal phenotypes, primarily children referred for developmental delay ...
Cuscó Ivon - - 2008
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not ...
Premi Sanjay - - 2008
Presence of the human Y-chromosome in females with Turner Syndrome (TS) enhances the risk of development of gonadoblastoma besides causing several other phenotypic abnormalities. In the present study, we have analyzed the Y chromosome in 15 clinically diagnosed Turner Syndrome (TS) patients and detected high level of mosaicisms ranging from ...
Schärer Orlando D OD Department of Pharmacological Sciences and Chemistry, Stony Brook University, Stony Brook, NY 11974-3400, USA. - - 2008
Xeroderma pigmetosum patients of the complementation group G are rare. One group of XP-G patients displays a rather mild and typical XP phenotype. Mutations in these patients interfere with the function of XPG in the nucleotide excision repair, where it has a structural role in the assembly of the preincision ...
Peat R A - - 2008
OBJECTIVE: We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort. METHODS: We screened 101 patients with CMD with a combination of immunofluorescence, Western blotting, and DNA sequencing to identify disease-associated abnormalities in glycosylated alpha-dystroglycan, collagen VI, laminin alpha2, alpha7-integrin, ...
Khan Arif O - - 2008
Ataxia telangiectasia (AT) is a recessive neurodegenerative disease due to a faulty repair mechanism for breaks in double-stranded DNA (ATM mutation). Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence insufficiency. Ataxia telangiectasia-like syndrome (ATLD) is a more recently recognized condition due to homozygous ...
Vargas C R - - 2007
3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency (3-hydroxy-3-methylglutaric aciduria, 3-HMG) is a rare autosomal recessive inborn error of metabolism involving the final step of leucine degradation. HL is the key enzyme for the production of glucose-sparing ketone bodies for brain. Positive biochemical findings are metabolic acidosis, hyperammonaemia, and hypoketotic hypoglycaemia in the neonatal ...
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