Search results for "HIF"

Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.

1995

We have applied the technique of PCR-SSCP (polymerase chain reaction-single stranded conformation polymorphism) to characterise the molecular basis of cholinesterase deficiency and variants in a Jordanian family. PCR-SSCP proved to be a quick and sensitive method of screening cholinesterase variants in a clinical setting. An AG insertion at position 351 was found to cause a silent allele, for which the parents were heterozygous and three children homozygous. In addition, the father and two sons were heterozygous for an A to G transition at position 209, known to cause the dibucaine resistant variant. No linkage to the K variant was found, which has been reported previously in white populati…

Sleep quality does not mediate the negative effects of chronodisruption on body composition and metabolic syndrome in healthcare workers in Ecuador

2020

Abstract Background and aims The objective of the present work was to determine to what extent sleep quality may mediate the association between chronodisruption (CD) and metabolic syndrome (MS), and between CD and body composition (BC). Methodology Cross-sectional study which included 300 adult health workers, 150 of whom were night shift workers and thereby exposed to CD. Diagnosis of MS was made based on Adult Treatment Panel III criteria. Sleep quality was measured using the Pittsburgh Sleep Quality Index. Body mass index (BMI), fat mass percentage, and visceral fat percentage were measured as indicators of body composition (BC). Data were analyzed using logistic, linear regression and …

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

2010

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.

Synovial sarcoma and malignant mesothelioma of the pleura: Review, differential diagnosis and possible role of apoptosis

2001

Synovial sarcoma of the pleural cavity is exceptionally rare and may be confused, both clinically and histologically, with malignant mesothelioma, with subsequent inappropriate therapy. To address this dilemma, four biphasic synovial sarcomas (BSSs) and four biphasic malignant mesotheliomas (BMMs) were studied with a panel of mucin and immunohistochemical stains to determine if they would allow one to distinguish between the two. The BMMs were all pleural-based. The BSSs were extrapleural. The mucin and immunohistochemical stains were all performed on formalin-fixed, paraffin-embedded tissue using standard techniques, with appropriate positive and negative controls. Mucin present in BSS is,…

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

2007

X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …

Analyzing gastrocnemius EMG-activity and sway data from quiet and perturbed standing.

2007

In an experiment, we combined force plate measurements and surface EMG in studying quiet and perturbed standing, involving MS (Multiple sclerosis) and controls. The aim of this paper is to report the results thus obtained on the relation between filtered gastrocnemius (GA) EMG and the anterior-posterior center-of-pressure (A/P COP) coordinate. The main finding is the good correspondence between A/P COP and the filtered GA EMG in the low frequency range. The EMG envelope was calculated using a zero-lag filter. Combining this with time shifts around 250-350 ms produced a high correlation (85.5+/-8.4%) between the GA-EMG envelope and the A/P COP. This EMG-COP relation was closest when using a …

Fluorescence Microscopy as a Diagnostic Tool for Dermatophytosis.

2016

Dermatophytosis is a superficial fungal infection of keratinized tissues. Dermatophytes can cause discomfort but are not usually life threatening. However, the infection can spread and may lead to systemic fungal infections in immunocompromised patients. Currently available diagnostic methods include potassium hydroxide (KOH) testing and periodic acid-Schiff (PAS) staining. However, most diagnostic techniques cannot be performed rapidly; days to weeks may be required for conclusive results. Certain dermatophytes autofluoresce and can be observed under fluorescence microscopy. The authors examined a series of 24 cases of hematoxylin and eosin-stained dermatophytoses using fluorescence micros…

Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome

2020

A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer

2005

A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…

Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

2015

International audience; Calreticulin (CALR) mutations have recently been reported in 70-84% of JAK2V617F-negative myeloproliferative neoplasms (MPN), and this detection has become necessary to improve the diagnosis of MPN. In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively. For the detection of the CALR mutations, three methods were compared in parallel: high-resolution melting-curve analysis (HRM), product-sizing analysis and Sanger sequencing. The sensitivity for the HRM, product-sizing analysis and Sanger sequencing was 96.4%, 98.2% and 89.3% re…