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Ben-Omran Tawfeg I - - 2007
Cobalamin-C (cblC) disease is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. There are few (13) reported patients of the late-onset presentation of cblC disease with paucity of detailed clinical descriptions. This results in this condition being easily missed. In this report, we describe clinical and biochemical ...
Laurichesse J J - - 2007
BACKGROUND: Patients heterozygous for the C-C chemokine receptor 5 (CCR5) Delta32 deletion spontaneously progress less rapidly to AIDS and death than do wild-type patients. We investigated whether the CCR5 Delta32 deletion has an impact on immunological, virological and clinical responses to highly active antiretroviral therapy (HAART) in HIV-1-infected patients. PATIENTS ...
Sone Takashi - - 2007
Because the investigation of epidermal growth factor receptor gene (EGFR) status as a predictor of gefitinib efficacy in Japanese patients has shown promise, the authors evaluated EGFR mutations and gene amplification in biopsy specimens from Japanese patients with nonsmall cell lung cancer (NSCLC) who received treatment with gefitinib to analyze ...
Langabeer S E - - 2007
The chronic myeloproliferative disorders (MPD) are clonal haemopoietic stem cell disorders. The incidence of JAK2 V617F mutation was sought in a population of patients with MPD. The JAK2 V617 mutation status was determined in 79 patients with known MPD and 59 patients with features suggestive of MPD. The mutation was ...
Auré Karine - - 2007
The prognosis of chronic progressive ophthalmoplegia with large-scale mitochondrial DNA (mtDNA) may strikingly vary from mild slowly progressive myopathy to severe multi-organ involvement. Evaluation of the disease course at the beginning of the disease is reputed impossible. To address the existence of predictive prognostic clues of these diseases, we classified ...
Costa Marcelo Fernandes - - 2007
The present study evaluated the color vision of 44 patients with Duchenne muscular dystrophy (DMD) (mean age 14.8 years; SD 4.9) who were submitted to a battery of four different color tests: Cambridge Colour Test (CCT), Neitz Anomaloscope, Ishihara, and American Optical Hardy-Rand-Rittler (AO H-R-R). Patients were divided into two ...
Chakrabarti Srabani - - 2007
The aim of this study is to analyse the morphological pattern of different types of myopathies including morphometric data. The cases were diagnosed as myopathy on the basis of clinical details, EMG findings, serum CK values. Muscle biopsies were performed and hematoxylin & eosin stain and Masson's trichrome stain were ...
Shinozaki Masaru - - 2007
Somatic B-RAF gene mutation has been identified in many malignancies and detected at a high frequency in cutaneous malignant melanoma. However, the significance of the B-RAF mutation (B-RAFmt) in terms of its prognostic and predictive capabilities for treatment response or disease outcome is not known. We hypothesized that circulating serum ...
Chappell Brandi J - - 2007
Patients with on-going HIV-1 replication and a K65R mutation in HIV-1 RT were assessed for further development of RT mutations while taking tenofovir disoproxil fumarate and other antiretroviral drugs. K65R was observed in 10 out of 536 treatment-experienced patients entering the study. K65R became undetectable in two patients, and the ...
Depienne C - - 2007
Chromosomal rearrangements, arising from unequal recombination between repeated sequences, are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located at 7q11.23, is commonly deleted in Williams-Beuren microdeletion syndrome (WBS). However, only four ...
Colussi Giacomo - - 2007
Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, implementation of genetic testing for these disorders is still hampered by several difficulties, including large gene dimensions, lack of hot-spot mutations, heavy workup time, and costs. This study evaluated in a cohort of ...
Dimitri Dalia - - 2007
We report three patients with anti-signal recognition particle antibodies who had different presenting clinical pictures, mimicking acute polymyositis, limb-girdle muscular dystrophy, and acute rhabdomyolysis. Muscle biopsies typically showed necrotizing myopathy with little or no inflammation and deposits of membrane attack complex (C5b-9) in endomysial capillaries. The clinical course was severe ...
Hohaus Stefan - - 2007
Polymorphisms in detoxification enzymes of the glutathione S-transferase (GST) family have been associated with risk and prognosis of several cancer types. We studied deletions of GSTM1 and GSTT1, and the GSTP1 Ile(105)Val polymorphism in 89 patients with follicular lymphoma (FL). Patients with a GSTM1 or GSTT1 deletion had a significantly ...
Hsu Hui-Chi - - 2007
The molecular pathogenesis of chronic myeloproliferative disorders (MPDs) is poorly understood. The hematopoietic progenitor cells of patients with polycythemia vera (PV) or essential thrombocythemia (ET) are characterized by hypersensitivity to hematopoietic growth factors and formation of endogenous erythroid colonies. Recently, 4 groups reported almost simultaneously Janus kinase 2 (JAK2) V617F ...
Magné Nicolas - - 2007
AIMS: To examine retrospectively the relationship between DPD phenotype/genotype and the intensity of 5FU toxicity. METHODS: One hundred and thirty-one case-reports (81 women, 50 men) with 5FU-related toxicity were analyzed. RESULTS: The lower the DPD activity (10-504 pmol min(-1) mg(-1)), the higher the toxicity grade was scored (P < 0.01). ...
Mazzeu Juliana Forte - - 2007
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or ...
Kraemer K H - - 2007
Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes. Three NER genes are also part of the basal transcription factor, TFIIH. Mutations in 11 NER genes have been ...
To-Figueras Jordi - - 2007
Congenital erythropoietic porphyria (CEP) is a rare inborn error of metabolism that results from a deficient activity of uroporphyrinogen III synthase (URO-synthase). We report four Spanish CEP cases studied at a clinical, biochemical and molecular level. The patients harbored missense mutations in the URO-synthase gene showing the following genotypes: C73R/T228M; ...
Finsterer Josef - - 2007
BACKGROUND: Little is known about the long-term development and outcome of cardiac involvement (CI) in patients with myotonic dystrophy type 1 (MD), Becker muscular dystrophy (BMD), and mitochondrial myopathy (MMP). OBJECTIVE: To assess the progression of "definite", "possible" or "absent" CI, based on the history, clinical examination, electrocardiography, 24-h ambulatory ...
Larsen Thomas Stauffer - - 2007
Chromosomal aberrations in polycythemia vera (PV) are heterogenous and nonrandom. A prognostic predictive value of these aberrations has not been established. The V617F mutation in the JAK2 gene on chromosome 9p24.1 was identified recently in peripheral blood leukocytes in the majority of patients with PV and in approximately half of ...
Battaglia A - - 2007
In recent years, subtelomeric rearrangements have been identified as a major cause of multiple congenital anomalies (MCA)/mental retardation (MR) syndromes. Currently, more than 2,500 individuals with MR have been tested and subtelomeric rearrangements were detected in about 6%. Therefore, subtelomeric FISH analysis is indicated as a second tier test after ...
Horvath Rita - - 2007
We describe a patient who presented with parkinsonism associated with the A8344G myoclonus epilepsy, ataxia, and myopathy with ragged red fibers mutation in the tRNA(Lys) gene. In addition, neurogenic changes and mitochondrial myopathy with ragged red fibers were observed. Neither myoclonus epilepsy nor other clinical signs described in association with ...
Ulusal Okyay Gülay - - 2007
We reported here a case of bilateral chylothorax as a result of widespread thrombi formation in a patient who was heterozygote for factor V leiden gene mutation and who had antithrombin III deficiency. We performed bilateral chest tubes, thrombolytic and oral anticoagulant therapy. The patient responded to the therapy. She ...
Uematsu Mitsugu - - 2007
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency appears to be the most frequent organic aciduria detected in tandem mass spectrometry (MS/MS) screening programs in the United States, Australia, and Europe. A pilot study of newborn screening using MS/MS has recently been commenced in Japan. Our group detected two asymptomatic MCC deficiency patients ...
Bettinelli Alberto - - 2007
BACKGROUND: Little information on the management and long-term follow-up of patients with biallelic mutations in the chloride channel gene CLCNKB is available. METHODS: Long-term follow-up was evaluated from 5.0 to 24 years (median, 14 years) after diagnosis in 13 patients with homozygous (n = 10) or compound heterozygous (n = ...
Lesca Gaëtan - - 2007
PURPOSE: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by arteriovenous malformations (AVM), mostly cutaneous and mucous (telangiectases), but also involving the lungs (PAVM), liver (HAVM) and brain (CAVM). We studied the relationship between the phenotype and genotype in patients with a proven mutation in either ENG (HHT1) or ...
Tarnopolsky Mark A - - 2007
Many of the neuromuscular (e.g., muscular dystrophy) and neurometabolic (e.g., mitochondrial cytopathies) disorders share similar final common pathways of cellular dysfunction that may be favorably influenced by creatine monohydrate (CrM) supplementation. Studies using the mdx model of Duchenne muscular dystrophy have found evidence of enhanced mitochondrial function, reduced intra-cellular calcium ...
Ganly Peter - - 2007
One hundred and forty four patients with a clinical indication of suspected polycythemia vera (PV), essential thrombocythemia, or idiopathic myelofibrosis were screened for JAK2(V617F) and the mutation frequency was 47, 51, and 50%, respectively. Previous investigations enabled 42 of 66 patients with suspected PV to be definitively diagnosed either as ...
Akiyama Masashi - - 2007
Recently, it has been reported that several harlequin ichthyosis (HI) patients survive the neonatal period and their condition subsequently improves. Here we describe a 2-year-old Japanese boy who exhibited typical clinical features of HI at birth. He survived beyond the neonatal period after oral retinoid treatment and, at the age ...
Caballero Pedro Enrique Jiménez - - 2007
INTRODUCTION: Chronic progressive external ophthalmoplegia is a common mitochondrial disease that shares clinical, enzymatic, and genetic features with other mitochondrial disorders. Effective treatment does not exist, and corrective surgery of the ptosis as a palliative measure is a treatment option. PATIENTS AND METHODS: This was a retrospective study of 10 ...
Martínez Carmen - - 2007
To identify low-penetrance genes related to sporadic essential tremor (ET) at the CYP2C locus, located in chromosome 10 q23.33. Leukocytary DNA from 200 ET patients and a control group of 300 unrelated healthy individuals with known CYP2C19 genotypes was studied for common CYP2C8 and CYP2C9 allelic variants by using amplification-restriction ...
Bosley Thomas M - - 2007
PURPOSE: Optic neuritis (ON) is a demyelinating disorder affecting optic nerves. It has certain similarities to Leber hereditary optic neuropathy (LHON) and other spontaneous optic neuropathies known to be associated with mitochondriopathies. We evaluated patients with optic neuritis for evidence of systemic mitochondrial abnormalities. METHODS: Patients were selected who had ...
Beinema Maarten J - - 2007
OBJECTIVE: To determine the influence of NSAIDs on the international normalized ratio (INR) in patients with cytochrome P450 (CYP)-2C9 enzyme variants starting acenocoumarol (an oral coumarin) therapy during the first 7 days after total hip replacement surgery. METHODS: In this prospective study, an age-dependent protocol was used for the initiation ...
Watihayati Mohd Shamshudin - - 2007
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease, which is characterized by degeneration of the anterior horn cells of the spinal cord. SMA is classified into 3 clinical subtypes, type I (severe), type II (intermediate), and type III (mild). Two genes, SMN1 and NAIP, have been identified as SMA-related ...
Saif M Wasif - - 2007
OBJECTIVES: 5-Fluorouracil (5-FU) is an integral part of treatment of GI malignancies. While normal DPD enzyme activity is rate limiting in 5-FU catabolism, its deficiency could increase concentrations of bioavailable 5-FU anabolic products leading to 5-FU related toxicity syndrome. METHODOLOGY: Twenty-three patients were tested for DPD deficiency after excessive toxicities ...
Kang Peter B - - 2007
There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I). We screened the FKRP gene in two cohorts totaling 87 patients with the LGMD phenotype. The c.826C>A, p.L276I mutation was present ...
Finazzi Guido - - 2007
We compared the laboratory and clinical findings of 179 patients with essential thrombocythemia (ET) and 77 with polycythemia vera (PV) classified according to the presence of the JAK2 V617F mutation. A gradient was observed in laboratory values between patients with JAK2 wild-type ET, JAK2 V617F ET and PV (all of ...
Lee Ji S - - 2007
Two female patients with clinical features resembling spinal muscular atrophy were presented. Patient 1 presented with hypotonia and proximal weakness of extremities at age 4 months. Electromyography revealed motor neuronopathy suggestive of spinal muscular atrophy. Patient 2 presented with severe hypotonia, motor weakness, and joint contractures since birth. Muscle biopsy ...
Choi Jin-Ho - - 2007
Patients with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency manifest hypoketotic hypoglycemia, hepatomegaly, hypotonia, lactic acidemia, acute renal failure, cardiomyopathy, and sudden death. We describe four novel mutations of the alpha- and beta-subunits of the mitochondrial trifunctional protein in four patients from three unrelated families. Their plasma acylcarnitine profiles suggested ...
Wierzba-Bobrowicz Teresa - - 2007
Glycogen storage disease type II (GSD II) is an autosomal recessive deficiency of acidalpha-1,4-glucosidase(GAA) caused by mutations in the GAA gene located on human chromosome 17 (17q 25.2-q 25.3). Although its pathophysiology is partially understood, it has not yet been elucidated whether the level of GAA deficiency is directly proportional ...
Wang Lin - - 2007
Tetrahydrobiopterin (BH4) is a co-factor that enhances the activity of other enzymes, and this co-factor level is found to be affected in phenylketonuria (PKU), an amino acid metabolism disorder. The present study was aimed at understanding the effect of BH4 on mutations in the regulatory domain of phenylalanine hydroxylase (PAH). ...
Si-Mohamed Ali A Laboratoire de Virologie, Hôpital Européen Georges Pompidou, Paris, France. - - 2007
Sequence variations in HR-1 gp41 env gene region encoding the target for T-20 have previously been reported among patients naive to inhibitory fusion. To evaluate whether a previous therapeutic history of patients could have an impact on a differential evolution of the gp41 polymorphism. We assessed the genetic polymorphism within ...
Choy Francis Y M - - 2007
Gaucher disease, the most prevalent lysosomal storage disease, results from an inherited deficiency in the enzyme glucocerebrosidase. Three clinical forms of Gaucher disease have been described: Type 1 non-neuronopathic, Type 2 acute neuronopathic, and Type 3 subacute neuronopathic. Although Gaucher disease is panethnic, its presentation reveals some ethnic-specific characteristics. The ...
Kamerbeek Nanne M - - 2007
Hereditary glutathione reductase (GR) deficiency was found in only 2 cases when testing more than 15 000 blood samples. We have investigated the blood cells of 2 patients (1a and 1b) in a previously described family suffering from favism and cataract and of a novel patient (2) presenting with severe ...
Gokkaya Nilufer Kutay Ordu - - 2006
There is a high incidence of reflex sympathetic dystrophy of the upper limbs in patients with hemiplegia, and its painful and functional consequences present a problem to specialists in physical medicine and rehabilitation. This study was designed to assess the role of several factors in the occurrence of reflex sympathetic ...
Rasmussen A - - 2006
Approximately 75% of Indo-European patients with recessive ataxia are homozygous for frataxin gene (FXN) mutations and have either typical or atypical Friedreich ataxia (FRDA). Our previous analysis of 134 Mexican Mestizo recessive ataxia patients showed that FRDA is relatively uncommon in the Mexican population (10.4%). This article reports the evaluation ...
Hallwirth Pillay K D - - 2007
There exists much phenotypic heterogeneity in Duchenne muscular dystrophy and its allelic variant, Becker muscular dystrophy. The molecular findings on 53 patients with Duchenne and 15 patients with Becker type muscular dystrophy in KwaZulu Natal, South Africa are reported. Multiplex PCR was performed using primers targeting 18 hot-spot exons throughout ...
Bang Soo-Mee SM Department of Internal Medicine, Gil Medical Center, Gachon Medical School, Incheon, - - 2006
We investigated the Janus kinase 2 (JAK2) mutation and its diagnostic value in patients suffering with non BCR/ABL myeloproliferative diseases (nMPD) or other reactive conditions. We reviewed the clinical records of 83 patients who underwent bone marrow (BM) examinations with suspect of nMPD. The diagnoses of nMPD were made based ...
Leslie Kieron S KS Department of Dermatology, University of California, San Francisco, - - 2006
To characterize the multisystem chronic inflammatory phenotype, dermatopathologic features, and response to therapy with interleukin 1 receptor antagonist (anakinra) in patients with mutations in the CIAS-1/NALP3 gene. Retrospective review of medical records and evaluation of histologic findings. The National Amyloidosis Centre, London, and a tertiary referral clinic for urticaria. Twenty-two ...
Fusco Francesca - - 2007
Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP. Six of the patients had neurologic, ophthalmologic, or dental manifestations as well. Three patients showed evidence by polymerase chain reaction analysis of both the normal NEMO ...
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