Search Results
Results 201 - 250 of 1050
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Klinge Lars L University of Newcastle, Institute of Human Genetics, The Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, - - 2010
Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data. The diagnosis was established by reduction of dysferlin in ...
Veggiotti Pierangelo - - 2010
Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GLUT-1 gene mutation on chromosome 1. ...
Zouvelou Vasiliki - - 2009
Persistent, asymptomatic (hyperCKemia) may be the prelude to, or the sole manifestation of, a neuromuscular disease. However, the clinical spectrum of facioscapulohumeral muscular dystrophy (FSHD) ranges from asymptomatic individuals with minimal clinical signs to patients who are wheelchair-bound. We describe a patient with persistent, asymptomatic hyperCKemia who received the diagnosis ...
Reddy Sreelatha S Department of Pediatrics, Medical College of Wisconsin and the Children's Research Institute, Milwaukee 53201, - - 2009
We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members, including the gene encoding the interleukin-1-receptor antagonist (IL1RN). ...
Van den Berg-Vos Renske M - - 2009
OBJECTIVE: To determine the natural course of sporadic adult-onset lower motor neuron syndrome in a long-term prospective study of patients with the syndrome. DESIGN: Inception cohort with a follow-up of 72 months. SETTING: Three university hospitals in the Netherlands (referral centers for neuromuscular diseases). PATIENTS: Thirty-two patients were classified as ...
Seok Jung Im - - 2009
Clevudine (Revovir), a pyrimidine nucleoside analogue, is a recently introduced antiviral drug. Clinical trials have demonstrated potent, sustained antiviral activity against hepatitis B virus without specific adverse events. The lack of cytotoxicity and absence of an effect on mitochondrial function have been considered the reasons for the fewer adverse events. ...
Rosé Carlos D - - 2009
To study the phenotype characteristics of the largest to date cohort of patients with pediatric granulomatous arthritis (PGA) and documented mutations in the NOD2 gene. We analyzed merged data from 2 prospective cohorts of PGA patients, the International PGA Registry and a Spanish cohort. A systematic review of the medical ...
Miao Zhimin - - 2009
BACKGROUND: Primary aldosteronism (PA) is the most common form of secondary hypertension, while Gitelman's syndrome (GS) is the most common inherited renal tubular disease. However, coexistence of these two diseases has never been previously reported. AIM AND SUBJECTS: The aim of our study was to describe the association of GS ...
Gdynia Hans-Jürgen - - 2009
Lipodystrophies represent a heterogeneous group of diseases characterized by altered body fat repartition and often metabolic alterations. Here we illustrate a 20 year old male with myositis in association with localized lipodystrophy. Immunohistochemical stainings revealed a regular pattern of dystrophin, dysferlin, sarcoglycans, and theletonin. Furtermore, there was no evidence of ...
Lai Yen-Chein - - 2009
PURPOSE: The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males. METHODS: Blood samples were collected from healthy controls, oligozoospermia patients, and azoospermia patients. DNA fragments containing target CAG repeats were amplified by ...
Vuillerot Carole - - 2010
AIM: To assess changes in motor function in patients with Duchenne muscular dystrophy using the Motor Function Measure (MFM). METHOD: Three studies were performed. Two studies included only physiotherapy-treated patients, with 13 patients (males mean age 11y 7mo, SD 1y 10mo, range 8-14y) in the 3-month study and 41 patients ...
Blanco Blanco, Ignacio
During the last few years, clinical, epidemiological, and pathological evidence has suggested that inherited alpha-1 antitrypsin [AAT] deficiency might play a role in the development of the fibromyalgia syndrome [FMS], probably because of the loss of AAT anti-inflammatory efficacy. The objective of this study was to estimate the prevalence and ...
Stojkovic Tanya - - 2009
We report the clinical, histological and genetic findings in 10 families (19 patients) presenting mutations in the valosin-containing protein (VCP). The mean age at onset was 42 years. The clinical pattern was characterized by an early involvement of the proximal upper limbs with scapular winging. Axial and lower limb muscles ...
Amiot Aurélien - - 2009
Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder caused by intestinal dysmotility and characterized by chronic symptoms suggesting bowel obstruction in the absence of fixed, occluding lesions. CIPO has been associated with primary defects of the mitochondrial oxidative phosphorylation pathway, although the frequency of mitochondrial disorders in patients with CIPO ...
Brugman Frans - - 2009
OBJECTIVE: To study whether clinical characteristics can differentiate sporadic presentations of hereditary spastic paraparesis (HSP) from primary lateral sclerosis (PLS). Differentiation between these diseases is important for genetic counseling and prognostication. DESIGN: Case series. SETTING: Tertiary referral center. PATIENTS: One hundred four Dutch patients with an adult-onset, sporadic upper motor ...
Sempere A - - 2009
Creatine transporter deficiency is a recently identified X-linked inborn error of metabolism. The natural course of the disease is not well delineated since clinical data from adult patients have scarcely been reported. A progressive course of the disease has been noted in a few described cases. We report the first ...
van Kuilenburg André B P - - 2009
Dihydropyrimidine dehydrogenase (DPD) deficiency is an infrequently described autosomal recessive disorder of the pyrimidine degradation pathway and can lead to mental and motor retardation and convulsions. DPD deficiency is also known to cause a potentially lethal toxicity following administration of the antineoplastic agent 5-fluorouracil. In an ongoing study of 72 ...
Sozer Selcuk - - 2009
Patients with myeloproliferative disorders are at a high risk of developing thrombotic events. Several investigators have hypothesized that endothelial cell (EC) abnormalities might contribute to this prothrombotic state. Budd-Chiari syndrome (BCS) and portal vein thrombosis have been reported to be associated with JAK2V617F-positive hematopoiesis. We explored whether JAK2V617F was present ...
Bang Soo-Mee - - 2009
Evaluation of the Janus kinase 2 (JAK2) V617F mutation has been widely used for the diagnosis of myeloproliferative neoplasms (MPN). However, its prognostic relevance to clinical outcome is not completely understood. We investigated the association of JAK2 V617F with vascular events in Korean patients with myeloproliferative neoplasms (MPN). We studied ...
Bijlsma E K - - 2009
Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental retardation and/or multiple congenital anomalies (MR/MCA) has led to the identification of a number of new microdeletion and microduplication syndromes. Recently, a recurrent copy number variant (CNV) at chromosome 16p11.2 was reported to occur in up to 1% ...
Söylen Bahar - - 2009
INTRODUCTION: This study presents a comparison of established methods for measuring dural ectasia with a new quantitative method of assessing this clinical feature. METHODS: Seventeen patients with an identified mutation in FBN1 were examined for dural ectasia. The results were compared with 17 age- and sex-matched controls. Our images were ...
Shawky, RM; ; shawkyrabah@yahoo.com
Background: Mucopolysaccharidoses (MPS) are chronic progressive lysosomal disorders (Six distinct types) which are inherited as autosomal recessive except MPS II which is inherited as X-linked recessive disorder Patients and Methods: This study is designed to investigate a group of Egyptian patients with MPS biochemically using screening test by electrophoretic separation ...
Leung M - - 2009
Severe cytopenias in patients with autoimmune conditions treated with azathioprine are well-recognized. Thiopurine methyltransferase (TPMT) enzymatic activity is subject to individual and ethnic variability. Patients with low TPMT activity (poor metabolizers) are at high risk of developing severe and potentially fatal haematopoietic toxicity. Studies have shown that essentially all TPMT-deficient ...
El Hallani S - - 2009
BACKGROUND: Functional single nucleotide polymorphisms (SNP) in codon 72 of TP53 have been shown to be a risk factor, a prognostic marker, and related factor to age at onset in various cancers. METHODS: We investigated blood samples from 254 patients with glioblastoma and 238 healthy controls. RESULTS: TP53 codon 72 ...
Lee Ching-Chih - - 2009
AIM: Haptoglobin polymorphisms are associated with different cancers; however, the occurrence of nasopharyngeal carcinoma (NPC) in relation to haptoglobin polymorphisms has not been reported. In this study, the distribution of haptoglobin genotypes among patients with NPC was investigated and the prognostic significance of haptoglobin genotypes was further analyzed. MATERIAL AND ...
Auber Bernd - - 2009
Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitative PCR (qPCR) protocol established by Boehm et al. (2004) in the clinical routine of subtelomeric testing. 296 ...
Fink Stephanie R - - 2009
The PDGRFA locus has become a gene of interest based on mutational activation in various myeloid neoplasms and the availability of targeted therapies (i.e., imatinib mesylate) to its overexpression. We studied a new FISH method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with myeloid neoplasms associated ...
Ngu Lock Hock - - 2008
We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, which consisted of excessive excretion of ketones, tiglylglycine, 2-methyl-3-hydroxybutyrate, and ...
Shintaku Haruo - - 2008
BACKGROUND: A novel therapeutic strategy for phenylketonuria (PKU) has been initiated in Japan. Hyperphenylalaninemia (HPA) results from a phenylalanine hydroxylase (PAH) enzyme deficiency or a deficiency of its cofactor, tetrahydrobiopterin (BH4). BH4 can normalize blood phenylalanine levels in BH4 deficiency, but typically not in PKU. However, since 1999 it has ...
Braschinsky Mark - - 2009
BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder, with a variable reported prevalence ranging from 0.5 to 12 per 100,000. The aim of this retrospective study was to evaluate the prevalence of HSP and estimate the percentage of SPG4 mutations in the Estonian population. METHODS: A ...
Pigny Pascal - - 2009
BACKGROUND: According to previous studies, around 15% of patients with an apparently sporadic pheochromocytoma and a negative family history had a hereditary disease. This high frequency together with the financial support provided to reference laboratories of molecular genetics by the French government led to a nearly systematic screening in each ...
Battaglia Agatino - - 2008
Wolf-Hirschhorn syndrome (WHS) is a well-known multiple congenital anomalies/mental retardation syndrome, firstly described in 1961 by Cooper and Hirschhorn. Its frequency is estimated as 1/50,000-1/20,000 births, with a female predilection of 2:1. The disorder is caused by partial loss of material from the distal portion of the short arm of ...
Dimmock David P - - 2008
Expanded newborn screening detects patients with modest elevations in citrulline; however it is currently unclear how to treat these patients and how to counsel their parents. In order to begin to address these issues, we compared the clinical, biochemical, and molecular features of 10 patients with mildly elevated citrulline levels. ...
Saito Toshio - - 2009
In patients with muscular dystrophy, such as Duchenne muscular dystrophy (DMD), microcirculation abnormalities and hypoxic ischemic conditions in muscle tissues are suspected to be induced by non-symptomatic coagulation fibrinolysis abnormalities and vascular dysfunction. Vascular endothelial growth factor (VEGF) is a critical regulating factor in angiogenesis that is known to be ...
Kresty Laura A - - 2008
Proliferative verrucous leukoplakia (PVL) represents a rare but highly aggressive form of oral leukoplakia with > 70% progressing to malignancy. Yet, PVL remains biologically and genetically poorly understood. This study evaluated the cell cycle regulatory genes, p16INK4a and p14ARF, for homozygous deletion, loss of heterozygosity, and mutation events in 20 ...
Debray F-G - - 2008
BACKGROUND: Hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is caused by impaired ornithine transport across the inner mitochondrial membrane due to mutations in SLC25A15. To date, 22 different mutations of the SLC25A15 gene have been described in 49 patients belonging to 31 unrelated families. OBJECTIVE: To further delineate the phenotypic spectrum of ...
Andrade Juliana Gabriel R de - - 2008
AIM: To present phenotypic variability of WT1-related disorders. METHODS: Description of clinical and genetic features of five 46,XY patients with WT1 anomalies. RESULTS: Patient 1: newborn with genital ambiguity; he developed Wilms tumor (WT) and chronic renal disease and died at the age of 10 months; the heterozygous 1186G>A mutation ...
Pérez-Dueñas B - - 2009
Congenital disorder of glycosylation Ia (CDG-Ia) is a metabolic disease with a broad spectrum of clinical signs, including recently described mild phenotypes. Our aim was to describe the clinical presentation and follow-up of eight CDG-Ia patients highlighting atypical features and aspects of evolution of the disease. CDG diagnosis was confirmed ...
Ehmer Ursula U Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, - - 2008
Gilbert's syndrome causes mild, unconjugated hyperbilirubinemia and is present in approximately 10% of the Caucasian population. The basis of the disorder is a 70% reduction in bilirubin glucuronidation catalyzed by the UDP-glucuronosyltransferase 1A1 (UGT1A1), which, in Caucasians, is the result of a homozygous TA insertion into the promoter region of ...
Walia Saloni S Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, - - 2009
To determine if a positive response of macular cysts to treatment with dorzolamide eye drops in patients with juvenile X-linked retinoschisis (XLRS) can occur with mutations that result in different types of retinoschisin protein dysfunction. Retrospective case series. Thirteen eyes of seven patients seen at the University of Illinois at ...
Ruggieri Martino - - 2009
BACKGROUND: There is no agreement on the prevalence, natural history and outcome of infantile spasms (IS) in neurofibromatosis type 1 (NF1). By contrast, its prevalence and outcome are well characterised in the setting of other neurocutaneous disorders (e.g. tuberous sclerosis). MATERIALS AND METHODS: The aim of the present study was ...
Silvain M - - 2008
Anderson's disease (AD) or chylomicron retention disease (CMRD) is a rare hereditary lipid malabsorption syndrome linked to SARA2 gene mutations. We report in this study a novel mutation in two sisters for which the Sar1b protein is predicted to be truncated by 32 amino acids at its carboxyl-terminus. Because the ...
Okamoto Osamu - - 2008
A novel point mutation in a patient with vascular type Ehlers-Danlos syndrome is herein reported. The patient experienced pneumothorax and multiple arterial troubles during the past 10 years. The patient's hand skin was atrophic, and a paper-like atrophic scar was seen. The collagen microfibrils from the patient's skin demonstrated irregular ...
Sultan S M - - 2008
OBJECTIVE: To assess the efficacy of B lymphocyte depletion therapy (BCDT) in patients with refractive idiopathic inflammatory myopathy (IIM). METHODS: Eight patients thought to have IIM were treated with BCDT utilising rituximab. Five were treated as part of an open label trial and three on the basis of perceived clinical ...
Abu-Amero Khaled K - - 2008
AIMS: To investigate a possible association between mitochondrial haplogroups and non-arteritic anterior ischemic optic neuropathy (NAION). METHODS: We compared the prevalence of various mitochondrial haplogroups in 24 NAION patients and 552 maternally unrelated ethnic controls. All patients and controls were Saudi Arabs. RESULTS: NAION patients had substantially more potentially pathologic ...
Wolach Baruch - - 2008
Chronic granulomatous disease (CGD) is an innate immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. In the course of 21 years, 38 Israeli CGD patients were diagnosed with 17 gene mutations, seven of which were new. Clinical, functional, and molecular studies were accomplished. Although X-linked recessive ...
Sugiyama Yukari - - 2008
Females with salt-wasting (SW) 21-hydroxylase deficiency (21OHD) may present with mild external genitalia virilization, despite complete or almost complete enzyme inactivation. We therefore analyzed genotype/phenotype correlation in 13 Japanese female patients with SW 21OHD. Criteria for classification into the SW phenotype included history of a salt-losing crisis with documented hyponatremia, ...
D'Angelo Maria Grazia - - 2009
We investigated the gait pattern of 21 patients with Duchenne muscular dystrophy (DMD), compared to 10 healthy controls through 3D Gait Analysis. An overall observation of gait pattern in our DMD patients when compared to controls confirmed the data previously reported for small dystrophic groups. An excessive anterior tilt of ...
Dahabreh Issa J - - 2009
A systematic review and meta-analysis was carried out to compare the frequency of clinically significant outcomes between JAK2 V617F positive and wild type patients with essential thrombocythemia (ET). JAK2 V617F positivity in patients with ET was associated with a clear increase in the odds of thrombosis [OR=1.83 (95% CI, 1.32-2.53), ...
Uppin Megha S - - 2008
We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the ...
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