Search results for " Structures"
showing 10 items of 4162 documents
Value of the sperm deoxyribonucleic acid fragmentation level, as measured by the sperm chromatin dispersion test, in the outcome of in vitro fertiliz…
2005
To determine the prognostic value of sperm DNA fragmentation levels, as measured by the sperm chromatin dispersion (SCD) test, in predicting IVF and ICSI outcome.Double-blind prospective study.University-affiliated private IVF setting.A total of 85 couples undergoing infertility treatment with IVF/ICSI.Analysis of DNA fragmentation by the SCD test in 170 aliquots obtained from the ejaculate and from the processed semen used for assisted reproductive technologies (ART).Percentage of spermatozoa with fragmented DNA was statistically correlated with embryo quality and reproductive success.Fertilization rate was inversely correlated with DNA fragmentation (r = -0.245 P = .045). Higher DNA fragm…
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
2000
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. To investigate whether TRPS III is caused by TRPS1 mutations and to establish a genotype-phenotype correlation in TRPS, we performed extensive mutation analysis and evaluated the height and degree of brachydactyly in patients with TRPS I or TRPS III. We found 35 different mutations in 44 of 51 unrelated p…
Cross validation of the factor structure of the 20-item Toronto Alexithymia Scale: An Italian multicenter study
1996
The 20-item Toronto Alexithymia Scale (TAS-20) has been shown in previous research to measure a general dimension of alexithymia with three intercorrelated factors. This study evaluated the reliability and factorial validity of an Italian translation of the TAS-20 in a group of normal adults (N = 206) and in a mixed group of medical and psychiatric outpatients (N = 642). Using confirmatory factor analyses, the previously established three-factor model of the TAS-20 was found to be replicable in both groups. In addition, the Italian TAS-20 demonstrated adequate estimates of internal reliability and test-retest reliability. Although evaluation of the convergent, discriminant, and concurrent v…
Evidence of noncentrosymmetry of human tooth hydroxyapatite crystals
2014
Herein, we investigate human single hydroxyapatite crystals (enamel and dentine) by convergent-beam electron diffraction (CBED) and automated electron-diffraction tomography (ADT). The CBED pattern shows the absence of the mirror plane perpendicular to the c axis leading to the P63 space group instead of the P63 /m space group considered for larger-scale crystals, this is confirmed by ADT. This experimental evidence is of prime importance for understanding the morphogenesis and the architectural organization of calcified tissues.
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…
Human eyes do not need monochromatic aberrations for dynamic accommodation
2017
Purpose To determine if human accommodation uses the eye's own monochromatic aberrations to track dynamic accommodative stimuli. Methods Wavefront aberrations were measured while subjects monocularly viewed a monochromatic Maltese cross moving sinusoidally around 2D of accommodative demand with 1D amplitude at 0.2 Hz. The amplitude and phase (delay) of the accommodation response were compared to the actual vergence of the stimulus to obtain gain and temporal phase, calculated from wavefront aberrations recorded over time during experimental trials. The tested conditions were as follows: Correction of all the subject's aberrations except defocus (C); Correction of all the subject's aberratio…
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 …
Is It Good To Be Good? Dispositional Compassion and Health Behaviors
2018
Background Despite the documented importance of dispositional compassions for a range of health-related outcomes, its role in predicting health behaviors remains unclear. Purpose This study examined the associations between dispositional compassion and three domains of health behavior, including physical activity, alcohol use, and smoking. Methods The participants (N = 1,279–1,913) were from the Finnish population-based Young Finns study. We collected self-reports of compassion in 1997 and 2011 and health behaviors in 2001, 2007, and 2011. In addition, an objective pedometer measure of physical activity was collected in 2011. Linear and logistic regression models were fitted to estimate the…
Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.
2013
Congenital hypothyroidism occurs with a prevalence of approximately 1:3 500. Defects in thyroid hormone synthesis which lead to goitrous hypothyroidism account for 10-15% of these cases. Several genetic defects have been characterized and mutations in the thyroid peroxidase (TPO) gene are the most common cause for dyshormonogenesis.So far, more than 80 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. Clinically TPO defects manifest with congenital primary goitrous hypothyroidism.We here present 2 children with congenital primary hypothyroidism, who were identified to have compound heterozygous TPO mutations. They both shared the same novel …
Ten novel mutations found in Aniridia.
1998
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…