Search results for "orders"
showing 10 items of 4837 documents
Intra- and Interhemispheric Electroencephalogram Coherence in Siblings Discordant for Schizophrenia and Healthy Volunteers
1997
Former studies had pointed to an increased electroencephalogram (EEG) coherence in schizophrenics, but it remained unsolved whether this deviation represents the premorbid state or is only a consequence of the current or previous schizophrenic episodes. To clarify this question, we tested the hypothesis that subjects at elevated risk also reveal higher coherences compared to healthy controls. For that, intra- and interhemispheric EEG coherences were investigated in untreated schizophrenics, their healthy siblings, and healthy controls. Differences were only found regarding the intrahemispheric coherences. Both in schizophrenics and, even though to a lesser degree, in their siblings signific…
Wisconsin Card Sorting Test: an indicator of vulnerability to schizophrenia?
1992
The Wisconsin Card Sorting Test (WCST) is a neuropsychological test, hypothesized to be an indicator of dorsolateral prefrontal cortex (DLPFC) functioning. The performance of schizophrenic patients in our sample (off medication) was worse than the performance of healthy controls in all variables of the WCST, including perseverative responses (PR) as well as non-perseverative responses (NPR). The rate of perseverative and non-perseverative responses was neither a function of the severity of the illness (measured by SANS/SAPS scales) nor the duration of the disease. Healthy siblings of schizophrenic probands revealed more perseverative responses than healthy controls, but did not show any dif…
Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate.
2006
Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two-step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty-eight patients (59.6%) had at least one affected first-degree relative and were classified as hereditary cases. In a single extended pedigree, lin…
Fast food consumption and gestational diabetes incidence in the SUN project.
2014
Background: Gestational diabetes prevalence is increasing, mostly because obesity among women of reproductive age is continuously escalating. We aimed to investigate the incidence of gestational diabetes according to the consumption of fast food in a cohort of university graduates. Methods: The prospective dynamic ‘‘Seguimiento Universidad de Navarra’’ (SUN) cohort included data of 3,048 women initially free of diabetes or previous gestational diabetes who reported at least one pregnancy between December 1999 and March 2011. Fast food consumption was assessed through a validated 136-item semi-quantitative food frequency questionnaire. Fast food was defined as the consumption of hamburgers, …
Post-transplant lymphoproliferative disorders after solid organ and hematopoietic stem cell transplantation.
2018
Post-transplant lymphoproliferative disorders (PTLD) are a rare complication after both solid organ (SOT) and allogeneic hematopoietic stem cell transplantation (allo-HSCT). In this single center retrospective study, we compared clinical, biological, and histological features, and outcomes of PTLD after both types of transplant. We identified 82 PTLD (61 after SOT and 21 after allo-HSCT). The presence of B symptoms, Waldeyer ring, spleen, central nervous system, and liver involvement, and advanced Ann-Arbor stage were more frequent in allo-HSCT recipients. PTLD had an earlier onset in allo-HSCT than in SOT cohort (4 vs. 64 months, p .0001). PTLD was EBV-positive in 100% of allo-HSCT, in co…
Effects of immunosuppressive drugs on the cognitive functioning of renal transplant recipients: A pilot study
2011
Some renal transplant patients show cognitive, emotional, and behavioral changes as part of possible neurotoxic effects associated with immunosuppressive medication, especially tacrolimus. This study evaluated effects of immunosuppressive drugs on some cognitive tasks. Patients treated with sirolimus and cyclosporine reported some of the noncognitive side effects related to immunosuppressive treatment. We observed attention and working memory impairment in patients treated with sirolimus or tacrolimus. Performance of cyclosporine-treated subjects was similar to that of healthy volunteer controls. Since the mood, anxiety, and sleep patterns measured were unaffected, it could be concluded tha…
Livebirth after uterus transplantation.
2015
Uterus transplantation is the first available treatment for absolute uterine infertility, which is caused by absence of the uterus or the presence of a non-functional uterus. Eleven human uterus transplantation attempts have been done worldwide but no livebirth has yet been reported.In 2013, a 35-year-old woman with congenital absence of the uterus (Rokitansky syndrome) underwent transplantation of the uterus in Sahlgrenska University Hospital, Gothenburg, Sweden. The uterus was donated from a living, 61-year-old, two-parous woman. In-vitro fertilisation treatment of the recipient and her partner had been done before transplantation, from which 11 embryos were cryopreserved.The recipient an…
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
2012
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…
Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP
2013
International audience; Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical h…
Low prevalence of upper endoscopic gastrointestinal findings despite high frequency of alarm symptoms at the time of diagnosis in adult coeliac disea…
2020
Objectives Exclusion of organic disorders involving the upper gastrointestinal (UGI) is a mandatory step before considering a biopsy-avoidance diagnostic strategy for adult coeliac disease. We aim to evaluate the prevalence of alarm symptoms and coincidental UGI endoscopic findings at the time of diagnosis of coeliac disease. To develop consensus criteria to identify patients with coeliac disease requiring a gastroscopy and to evaluate whether alarm symptoms prompting gastroscopy were predictive of endoscopic findings. Methods Presenting symptoms and UGI endoscopic findings at diagnosis of coeliac disease were collected retrospectively in 278 adult patients with coeliac disease diagnosed in…