Search results for "pair"
showing 10 items of 2908 documents
WAIS-IV Performance in Patients With Schizophrenia.
2019
Wechsler Adult Intelligence Scale (WAIS) is one of the most widely used instruments to measure cognitive functioning. The aims of this study were 1) to obtain the cognitive profile of Spanish patients with schizophrenia on the WAIS-IV; 2) to compare their profile to the profile of a healthy control group; and 3) to compare the cognitive profile of patients with schizophrenia to the performance observed in two separate previous studies in Canada and China. A sample of 99 outpatients and 99 healthy control participants, matched on age, sex, and educational level, were measured using the WAIS-IV, including 10 core subtests, 4 indices, and 2 general intelligence scores, to obtain their cognitiv…
Two complementary recombinant chromosomes 5 in a healthy woman
2005
We report a healthy woman with two abortions who is a carrier for a rare heterozygous double recombinant of an inv(5) chromosome, karyotype 46,XX,rec(5)dup(5p) inv(5)(pl 3q22),rec(5)dup(5q)inv(5)(pl 3q22). Her father had a 46,XY,inv(5)(p13q22) karyotype; his consanguineous wife had died. Molecular investigation of 11 highly polymorphic markers spanning chromosome 5 revealed biparental inheritance for two markers (D5S406, D5S681) on 5p15.3 and 5q13.1, and an allele constellation not compatible with paternal heterodisomy for marker D5S623 on 5q11.2. Eight markers were not informative. Three mechanisms of formation are proposed: First, fertilization of a normal oocyte by a sperm carrying the t…
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…
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 <i>(NF1)<…
2006
Most patients with neurofibromatosis (NF1) are endowed with heterozygous mutations in the <i>NF1</i> gene. Approximately 5% show an interstitial deletion of chromosome 17q11.2 (including <i>NF1</i>) and in most cases also a more severe phenotype. Here we report on a 7-year-old girl with classical NF1 signs, and in addition mild overgrowth (97th percentile), relatively low OFC (10th–25th percentile), facial dysmorphy, hoarse voice, and developmental delay. FISH analysis revealed a 17q11.2 microdeletion as well as an unbalanced 7p;13q translocation leading to trisomy of the 7q36.3 subtelomeric region. The patient’s mother and grandmother who were phenotypically normal …
No effects of psychosocial stress on memory retrieval in non-treated young students with Generalized Social Phobia.
2015
Generalized Social Phobia (GSP) is a common anxiety disorder that produces clear social life disruptions. There is no consensus on the specific processes involved in its development, but the role of the hypothalamic-pituitary-adrenal (HPA) axis has been suggested. This study analyzed the effects of the cortisol response to the Trier Social Stress Test (TSST) on the memory retrieval of pictures with different emotional valences in 45 non-treated young students with GSP and 50 non-anxious (NA) subjects (mean=19.35years, SD=0.18). No differences were found in the cortisol response of GSP and NA subjects to the TSST and control sessions. In addition, psychosocial stress impaired memory retrieva…
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…
BMI and an anthropometry-based estimate of fat mass percentage are both valid discriminators of cardiometabolic risk: A comparison with DXA and bioim…
2013
Objective. To determine whether categories of obesity based on BMI and an anthropometry-based estimate of fat mass percentage (FM% equation) have similar discriminative ability for markers of cardiometabolic risk as measurements of FM% by dual-energy X-ray absorptiometry (DXA) or bioimpedance analysis (BIA).Design and Methods. A study of 40–79-year-old male (n=205) and female (n=388) Finns. Weight, height, blood pressure, triacylglycerols, HDL cholesterol, and fasting blood glucose were measured. Body composition was assessed by DXA and BIA and a FM%-equation.Results. For grade 1 hypertension, dyslipidaemia, and impaired fasting glucose >6.1 mmol/L, the categories of obesity as defined b…
Subcutaneous interferon β-1a may protect against cognitive impairment in patients with relapsing-remitting multiple sclerosis: 5-year follow-up of th…
2013
ObjectiveTo assess the effects of subcutaneous (sc) interferon (IFN) -1a on cognition over 5 years in mildly disabled patients with relapsing-remitting multiple sclerosis (RRMS).MethodsPatients aged 18-50 years with RRMS (Expanded Disability Status Scale score ≤4.0) who had completed the 3-year COGIMUS study underwent standardized magnetic resonance imaging, neurological examination, and neuropsychological testing at years 4 and 5. Predictors of cognitive impairment at year 5 were identified using multivariate analysis.ResultsOf 331 patients who completed the 3-year COGIMUS study, 265 participated in the 2-year extension study, 201 of whom (75.8%; sc IFN β-1a three times weekly: 44 µg, n = …
Brain responses of dysphoric and control participants during a self-esteem implicit association test.
2021
Previous studies have reported lowered implicit self-esteem at the behavioral level among depressed individuals. However, brain responses related to the lowered implicit self-esteem have not been investigated in people with depression. Here, event-related potentials were measured in 28 dysphoric participants (individuals with elevated amounts of depressive symptoms) and 30 control participants during performance of an implicit association task (IAT) suggested to reflect implicit self-esteem. Despite equivalent behavioral performance, differences in brain responses were observed between the dysphoric and the control groups in late positive component (LPC) within 400-1,000 ms poststimulus lat…
Six Sessions of Sprint Interval Training Improves Running Performance in Trained Athletes
2017
Abstract Koral, J, Oranchuk, DJ, Herrera, R, and Millet, GY. Six sessions of sprint interval training improves running performance in trained athletes. J Strength Cond Res 32(3): 617–623, 2018—Sprint interval training (SIT) is gaining popularity with endurance athletes. Various studies have shown that SIT allows for similar or greater endurance, strength, and power performance improvements than traditional endurance training but demands less time and volume. One of the main limitations in SIT research is that most studies were performed in a laboratory using expensive treadmills or ergometers. The aim of this study was to assess the performance effects of a novel short-term and highly acces…