Search results for "shift"

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.

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 …

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…

Effects of alertness management training on sleepiness among long-haul truck drivers : a randomized controlled trial

2018

Education is a frequently recommended remedy for driver sleepiness in occupational settings, although not many studies have examined its usefulness. To date, there are no previous on-road randomized controlled trials investigating the benefits of training on sleepiness among employees working in road transport. To examine the effects of an educational intervention on long-haul truck drivers' sleepiness at the wheel, amount of sleep between work shifts, and use of efficient sleepiness countermeasures (SCM) in association with night and non-night shift, a total of 53 truck drivers operating from southern Finland were allocated into an intervention and a control group using a stratified random…

Night-Time Shift Work and Related Stress Responses: A Study on Security Guards

2020

Work-related stress can induce a break in homeostasis by placing demands on the body that are met by the activation of two different systems, the hypothalamic&ndash

Acceptability of Intimate Partner Violence among Male Offenders: The Role of Set-Shifting and Emotion Decoding Dysfunctions as Cognitive Risk Factors.

2019

Attitudes towards the acceptability of intimate partner violence against women (IPVAW) contribute to an increased risk of IPVAW perpetration, and these attitudes are common among IPVAW offenders. Research suggests that IPVAW offenders present cognitive deficits related to information processing. Little is known, however, about how these deficits are related to the acceptability of IPVAW. The main aim of this study was to explore the relationship between specific cognitive deficits (i.e., deficits in attention switching, set-shifting, and emotion decoding abilities) and the acceptability of IPVAW in a sample of 84 IPVAW offenders. Results revealed that IPVAW offenders with deficits in attent…

Executive function and metacognitive self-awareness after severe traumatic brain injury.

2008

The objective of this study is to identify the clinical, neuropsychological, neuropsychiatric, and functional variables that correlate with metacognitive self-awareness (SA) in severe traumatic brain injury (TBI) outpatients and to assess the influence of the same variables on the sensory-motor, cognitive, and behavioral-affective indicators of SA. This cross-sectional observational study evaluated 37 outpatients from May 2006 to June 2007 in a neurorehabilitation hospital on the basis of the following inclusion criteria: (1) age ≥ 15 years; (2) diagnosis of severe TBI (Glasgow Coma Scale, GCS ≤ 8); (3) posttraumatic amnesia (PTA) resolution; (4) capacity to undergo formal psychometric eval…