Search results for " data"
showing 10 items of 7516 documents
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 Among these 14 mutations, 10 have been unpublished until now.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…
Utility of the World Health Organization Disability Assessment Schedule II in schizophrenia.
2011
The World Health Organization Disability Assessment Schedule II (WHODAS II) was developed for assessing disability. This study provides data on the validity and utility of the Spanish version of the WHODAS II in a large sample of patients with schizophrenia.The sample included 352 patients with a schizophrenia spectrum disorder. They completed a comprehensive assessment battery including measures of psychopathology, functionality and quality-of-life. A sub-sample of 36 patients was retested after six months to assess its temporal stability.Participation in society (6.3%) and Life activities (4.0%) were the domains with the highest percentage of missing data. The internal consistency (Cronba…
Search for variants of the gene-promoter and the potential phosphotyrosine encoding sequence of the insulin receptor substrate-2 gene: evaluation of …
1999
Aims/hypothesis. The aim of this study was to screen part of the putative promoter sequence in addition to 14 potential phosphotyrosine residues of human IRS-2 for genetic variability which might cause changes in protein expression or function. Furthermore, the potential impact on insulin secretion and sensitivity of a previously identified IRS-2 variant (Gly1057Asp) was analysed Methods. The screenings were carried out by the SSCP-heteroduplex technique on DNA from Type II (non-insulin-dependent) diabetic patients. The impact of the Gly1057Asp variant was analysed in four glucose-tolerant Scandinavian study groups. Results. The results showed no nucleotide substitutions in the promoter seq…
Increased sensitivity of the neuronal nicotinic receptor alpha-2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
2006
Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep …
Early detection of the risk of developing psychiatric disorders: a study of 461 Chinese university students under chronic stress
2019
Chronic stress, a characteristic of modern time, has a significant impact on general health. In the context of psychiatric disorders, insufficient coping behavior under chronic stress has been linked to higher rates of (1) depressive symptoms among subjects of the general population, (2) relapse among patients under treatment for clinical depression, and (3) negative symptoms among subjects with an elevated vulnerability to psychosis. In this normative study we assessed basic coping behavior among 461 Chinese freshman university students along with their consumption behavior and general health in terms of regular exercises, physical health, psychosomatic disturbances, and mental health. The…
Transmission of Drug-Resistant HIV Type 1 Strains in HAART-Naive Patients: A 5-Year Retrospective Study in Sicily, Italy
2010
The transmission of drug-resistant HIV-1 strains might compromise the efficacy of current first-line antiretroviral (ARV) regimens. Between 2004 and 2008, HIV-1 reverse transcriptase (RT) and protease (PR) genes of 108 ARVnaive Sicilian patients were amplified and sequenced to describe the prevalence of ARV resistance mutations among HAART-naive HIV-1-infected individuals. The frequency of transmitted drug resistance mutations (DRAMs) was determined by using genotypic interpretation algorithms. The proportion of HAART-naive HIV- 1-infected patients in Sicily increased from 18.4% to 23.5% during 2004–2008. Among naive patients, the overall prevalence of DRAMs was 15.7% [17/108; 95% CI: 9.4–2…
Influence of age on the interrelation between EEG frequency bands during NREM and REM sleep.
2004
The age-dependence of temporal interrelations between distinct frequency bands of sleep EEG was investigated in a group of 59 healthy young and middle-aged males via cross correlation analysis. Based on global evaluation throughout the entire night, a highly significant decline of the delta/theta correlation with increasing age was found. A separate analysis for non-rapid eye movement (NREM) and rapid eye movement (REM) sleep revealed different changes with aging. During NREM sleep, the correlation between the delta and theta frequency bands decreased with increasing age. In contrast, during REM sleep, a stronger correlation became obvious between the theta, alpha, and beta frequency bands …
The screen for cognitive impairment in psychiatry: diagnostic-specific standardization in psychiatric ill patients
2013
Abstract Background The Screen for Cognitive Impairment in Psychiatry (SCIP) is a simple and easy to administer scale developed for screening cognitive deficits. This study presents the diagnostic-specific standardization data for this scale in a sample of schizophrenia and bipolar I disorder patients. Methods Patients between 18 and 55 years who are in a stable phase of the disease, diagnosed with schizophrenia, schizoaffective disorder, schizophreniform disorder, or bipolar I disorder were enrolled in this study. Results The SCIP-S was administered to 514 patients (57.9% male), divided into two age groups (18–39 and 40–55 years) and two educational level groups (less than and secondary or…
Use of topical tranexamic acid in primary total hip arthroplasty. Efficiency and safety. Our experience.
2019
Abstract Background and aim Intravenous tranexamic acid has been shown to reduce bleeding and the need for transfusions in total hip arthroplasty, although it has a theoretical risk of producing thromboembolic phenomena. Recently some papers have been published using the topical application of tranexamic acid, but the ideal administration protocol has not yet been clearly defined. The aim of this paper was to demonstrate that our protocol of topical tranexamic acid is effective and safe. Methods Prospective data collection from a case series of 80 primary hip arthroplasties, in which the following topical tranexamic acid protocol is used: 1.5 g diluted to a total volume of 60 ml were admini…
Normative vs. patient-specific brain connectivity in deep brain stimulation
2020
Abstract Brain connectivity profiles seeding from deep brain stimulation (DBS) electrodes have emerged as informative tools to estimate outcome variability across DBS patients. Given the limitations of acquiring and processing patient-specific diffusion-weighted imaging data, a number of studies have employed normative atlases of the human connectome. To date, it remains unclear whether patient-specific connectivity information would strengthen the accuracy of such analyses. Here, we compared similarities and differences between patient-specific, disease-matched and normative structural connectivity data and their ability to predict clinical improvement. Data from 33 patients suffering from…