Search results for "Position"

BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia

2013

Abstract Purpose In this report, we summarise data on BRCA1 gene analysis in Latvia to characterise criteria of genetic testing for breast and ovarian cancer susceptibility. Material/methods Analysis by SSCP/HD, MALDI-TOF mass spectrometry or DNA sequencing was used for mutation detection. Mutations identified were confirmed by direct DNA sequencing. Results Out of 1068 breast and 231 ovarian cancer patients from different families: 58 carried the c.5266dupC and 43 carried the c.4035delA mutations. Every 4th patient in our study did not report cancer in the family. The breast cancer was diagnosed earlier in carriers of the c.5266dupC than in carriers of the c.4035delA ( p  = 0.003). The inc…

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation

2018

Abstract Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were hete…

Association study of a SNP coding for a M129V substitution in the prion protein in schizophrenia.

2003

Impact of the AHI1 gene on the vulnerability to schizophrenia: a case-control association study.

2010

Background: The Abelson helper integration-1 (AHI1) gene is required for both cerebellar and cortical development in humans. While the accelerated evolution of AHI1 in the human lineage indicates a role in cognitive (dys)function, a linkage scan in large pedigrees identified AHI1 as a positional candidate for schizophrenia. To further investigate the contribution of AHI1 to the susceptibility of schizophrenia, we evaluated the effect of AHI1 variation on the vulnerability to psychosis in two samples from Spain and Germany. Methodology/Principal Findings: 29 single-nucleotide polymorphisms (SNPs) located in a genomic region including the AHI1 gene were genotyped in two samples from Spain (28…

A polygenic approach to the association between smoking and schizophrenia.

2021

Smoking prevalence in schizophrenia is considerably larger than in general population, playing an important role in early mortality. We compared the polygenic contribution to smoking in schizophrenic patients and controls to assess if genetic factors may explain the different prevalence. Polygenic risk scores (PRSs) for smoking initiation and four genetically correlated traits were calculated in 1108 schizophrenic patients (64.4% smokers) and 1584 controls (31.1% smokers). PRSs for smoking initiation, educational attainment, body mass index and age at first birth were associated with smoking in patients and controls, explaining a similar percentage of variance in both groups. Attention-defi…

Impaired Cardiopulmonary Exercise Capacity in Patients With Hyperthyroidism

1996

Hyperthyroidism (H) has been implicated as a primary cause of decreased exercise tolerance. To our knowledge, analysis of respiratory gas exchange, an efficient noninvasive method in evaluating cardiopulmonary capacity, has not been performed in patients with H.Using cardiopulmonary exercise testing, 12 consecutive women with Graves' H were examined and controlled in euthyroidism (E). Eighteen women with E, in whom cardiac catheterization had ruled out heart disease, served as control subjects (C).The ventilatory anaerobic threshold was determined by means of the V-slope method. Ergometry was performed with patients in a semisupine position using a continuous ramp protocol of 20 W/min. Echo…

Reliability and variability of bioimpedance measures in normal adults: Effects of age, gender, and body mass

2003

This study aimed to analyze the reliability and evaluate the causes of variability of bioimpedance parameters. Direct measures were analyzed because they are not affected by inappropriate prediction models. Resistance (R), reactance (Xc), and phase angle (PA) were determined at three fixed frequencies (5, 50, and 100 kHz) in 653 normal Germans (244 males and 409 females), aged 20-90 years, using a phase-sensitive whole-body tetrapolar bioimpedance analyzer (BIA 2000-M, Data Input, Germany). From these values, six bioimpedance ratios were calculated (R(5)/R(50), R(5)/R(100), Xc(5)/Xc(50), Xc(5)/Xc(100), PA(5)/PA(50), and PA(5)/PA(100)). Reliability of duplicate measurements, as determined by…

Autonomic regulation of nasal vessels during changes in body position

1994

The effects of postural changes on nasal airflow and nasal capillary blood flow were investigated in 15 healthy volunteers. Measurements were performed following nasal application of saline solution (control), the alpha-1 receptor antagonist prazosin, the alpha-2 receptor antagonist yohimbine, and after application of both prazosin and yohimbine. Nasal airflow in the control experiments did not significantly differ in the upright (362 +/- 166 ml/s), dorsally recumbent (350 +/- 167 ml/s) and 70 degrees head down position (311 +/- 167 ml/s). Following application of prazosin, nasal airflow was reduced to 223 +/- 121 ml/s in the upright position. Prazosin treatment significantly reduced nasal …

Mechanical power test and fiber composition of human leg extensor muscles.

1983

The present study was undertaken to assess the relationship between the mechanical power developed during new anaerobic power test and muscular fiber distribution. Ten track and field male athletes were used as subjects, whose muscle fiber composition (m. vastus lateralis) varied from 25 to 58 fast twitch (FT) fibers. The test consisted of measuring the flight time with a special timer during 60 s continuous jumping. A formula was derived to allow the calculation of mechanical power during a certain period of time (e.g., in the present study every 15 s during 60 s of jumping performance). The relationship between the mechanical power for the first 15 s period correlated best with fast twitc…

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

2020

Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic ERF variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventil…