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showing 10 items of 10618 documents
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.
2009
Recently, three reports described deletions and epimutations affecting the imprinted region at chromosome 14q32.2 in individuals with a phenotype typical for maternal uniparental disomy of chromosome 14 [upd(14)mat]. In this study, we describe another patient with upd(14)mat-like phenotype including low birth weight, neonatal feeding problems, muscular hypotonia, motor and developmental delay, small hands and feet, and truncal obesity. Conventional cytogenetic analyses, fluorescence in situ hybridization subtelomere screening, multiplex ligation-dependent probe amplification analysis of common microdeletion and microduplication syndromes, and methylation analysis of SNRPN all gave normal re…
Point mutations associated with Leber hereditary optic neuropathy in a Latvian population
2013
Purpose To study mutations associated with Leber hereditary optic neuropathy (LHON) in patients suspected of having this mitochondrial disorder in a Latvian population. Additional aims were to determine the heteroplasmy status of all non-synonymous polymorphisms identified in the current study and to identify the mitochondrial haplogroups of the studied participants because these factors may contribute to the manifestation of LHON. Methods Twelve patients, including patients in two families, were enrolled in the current study. LHON was suspected based on the findings of ophthalmologic examinations. In clinically affected individuals, the presence of all previously reported LHON-associated m…
One
2019
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family. Here, we report the co-occurrence of pathogenic variants in the NF1 and SPRED1 genes in six families with NF1 and Legius syndrome, using next-generation sequencing. In five of these families, we observed the co-occurrence of two independent NF1 variants. All NF1 variants were classified as pathogenic, according to t…
Distribution, genetic and cardiovascular determinants of FVIII:c - Data from the population-based Gutenberg Health Study
2015
Background: Elevated levels of FVIII:c are associated with risk for both venous and arterial thromboembolism. However, no population-based study on the sex-specific distribution and reference ranges of plasma FVIII: c and its cardiovascular determinants is available. Methods: FVIII:c was analyzed in a randomly selected sample of 2533 males and 2440 females from the Gutenberg Health Study in Germany. Multivariable regression analyses for FVIII:c were performed under adjustment for genetic determinants, cardiovascular risk factors and cardiovascular disease. Results and conclusions: Females (126.6% (95% CI: 125.2/128)) showed higher FVIII:c levels than males (121.2% (119.8/122.7)). FVIII:c le…
Evaluation of Physiological Parameters on Discomfort Glare Thresholds Using LUMIZ 100 Tool
2021
Purpose To assess the links between discomfort glare sensitivity and physiological factors such as eye biometry, refraction, skin phototype, age, and gender among a large sample of healthy human subjects. Methods A total of 489 participants who were 20 to 70 years old (241 men, 248 women) underwent discomfort glare threshold measurements via the LUMIZ 100. Eye biometry and optical quality were measured using a Zeiss IOLMaster 700 biometer and i.Profiler aberrometer. Iris color, skin tone, age, gender, eyeglasses use, chronotype, fatigue level, self-evaluation of light sensitivity, and time spent outdoors were determined. Statistical analysis was carried out using nonparametric Mann–Whitney …
Presence of human papillomavirus DNA in testicular biopsies from nonobstructive azoospermic men.
2005
Abstract Context.—Human papillomavirus (HPV) plays a major role in the etiology of many malignancies of diverse localization, such as uterine cervical carcinoma and its precursors. Human papillomavirus sequences have been detected throughout the male lower genitourinary tract, but the role of men as transmitters remains unclear. Objective.—To investigate the relationship between azoospermia and the presence of HPV DNA in testicular cells. Design.—One hundred eighty-five patients with azoospermia undergoing testicular biopsy were studied. Histologic study was done on formalin-fixed, paraffin-embedded samples from testicular biopsies, stained with hematoxylin-eosin. Molecular study to detect …
Study of pituitary secretion in relation to retinopathy in patients with juvenile diabetes mellitus.
1981
Fifteen juvenile diabetic patients with normal eye fundus, 6 with non proliferative retinopathy, 5 with proliferative retinopathy and 5 healthy control subjects were studied in order to investigate pituitary function in relation to diabetic retinopathy. ACTH values at 08(00) and 18(00), hPRL and TSh secretion in response to 200 microgram TRH i.v., and GH secretion in response to 500 mg oral L-dopa were evaluated. In all diabetic subjects, 08(00) ACTH levels were lower than in controls. Basal hPRL, TSH and GH values of the diabetics did not differ from those of the controls. No significant differences were found in hPRL levels in response to TRH, whereas significantly lower TSH responses wer…
Detection of oncogenic human papillomavirus genotypes on spermatozoa from male partners of infertile couples
2013
Objective To evaluate the prevalence of human papillomavirus (HPV) sperm infection and its correlation with sperm parameters in patients who attended a fertility clinic. Design Cross-sectional clinical study. Setting University-affiliated reproductive medicine clinic. Patient(s) A total of 308 male partners of couples undergoing in vitro fertilization techniques. Intervention(s) Specimens of semen were collected from all patients. Main Outcome Measure(s) Sperm parameters were evaluated according to the World Health Organization manual. The presence of HPV DNA was researched by the combined use of two HPV assays and a highly sensitive nested polymerase chain reaction assay followed by HPV ge…
Prevalence, Phenotype, and Psychosocial Well-Being in Euthyroid/Hypothyroid Thyroid-Associated Orbitopathy.
2015
At the onset of thyroid-associated orbitopathy (TAO), most patients are hyperthyroid, while scarce data are available on euthyroid/hypothyroid TAO. The aim of this study was to assess the prevalence, phenotype, and psychosocial burden of patients with initially euthyroid/hypothyroid TAO.The medical records of 461 consecutive and unselected patients with TAO followed at a specialized joint thyroid-eye clinic were analyzed within this retrospective cross-sectional study. Main outcome measures were the prevalence of initially eu- or hypothyroid TAO as well as ophthalmic signs and symptoms, disease-specific quality of life (QoL), work impairment, and rate of psychotherapy in initially eu-/hypot…
Differential regulation of Fas-mediated apoptosis in both thyrocyte and lymphocyte cellular compartments correlates with opposite phenotypic manifest…
2001
Several mechanisms are probably involved in determining the evolution of autoimmune thyroid disease (AITD) towards either hypothyroidism and the clinical syndrome known as Hashimoto's thyroiditis (HT) or toward hyperthyroidism and the symptoms of Graves' disease (GD). To gain further insight into such mechanisms we performed an exhaustive comparative analysis of the expression of key molecules regulating cell death (Fas, Fas ligand [FasL], Bcl-2) and apoptosis in both thyrocytes and thyroid infiltrating lymphocytes (TILs) from patients with either GD or HT. GD thyrocytes expressed less Fas/FasL than HT thyrocytes, whereas GD TILs had higher levels of Fas/FasL than HT TILs. GD thyrocytes exp…