Search results for "UNIVERSITY"
showing 10 items of 1352 documents
Profesors Gunārs Sermons: biobibliogrāfiskais rādītājs
1994
Biobibliogrāfiskajā rādītājā ietverti tehnisko zinātņu doktora, profesora Gunāra Sermona publicētie darbi no 1958. līdz 1994.gadam, kā ari literatūra par viņu.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
2018
International audience; Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved. To investigate this missing heritability, we recruited 21 families with at least one family member clinically diagnosed with Robinow or Robinow-like pheno…
NBEA : developmental disease gene with early generalized epilepsy phenotypes
2018
Abstract: NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients. Ann Neurol 2018;84:796-803
PD-1, PD-L1, and CD163 in pancreatic undifferentiated carcinoma with osteoclast-like giant cells: A expression patterns and clinical implications
2018
Undifferentiated carcinoma with osteoclast-like giant cells (UCOGC), a variant of pancreatic ductal adenocarcinoma (PDAC), has a striking genetic similarity to PDAC but a significantly improved overall survival. We hypothesize that this difference could be due to the immune response to the tumor, and as such, we investigated the expression of PD-1, PD-L1, and CD163 in a series of UCOGC. To this aim, 27 pancreatic UCOGCs (11 pure and 16 PDAC-associated), 5 extrapancreatic tumors with osteoclast-like giant cells and 10 pancreatic anaplastic carcinomas were immunostained using antibodies against PD-1, PD-L1, and CD163. In pancreatic UCOGCs, PD-L1 was expressed in neoplastic cells of 17 (63%) o…
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
2018
BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks. Patients who did not have a resolution of their flare received an add-on injection of 150 mg of canakinumab. The primary outcome was complete response (resolution…
Is there a need to widely prescribe antibiotics in patients hospitalized with COVID-19?
2021
Highlights • Antibiotics were a main part of COVID-19 treatments during the first epidemic peak. • Bacterial coinfections seem to be rare, especially if no ICU transfer needed. • We studied the place of antibiotics and the impact on prognosis of patients. • Antibiotics were prescribed if more severe infection and has no impact on prognosis. • We think that antibiotic therapy must be not widely prescribed.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebel…
2018
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgene…
Smoking behaviour among nursing students: attitudes toward smoking cessation.
2019
Introduction: The purpose of the study was to assess tobacco smoking habits among nursing students and how these are influenced by family members and cohabitants. Methods: Cross-sectional study. An anonymous papery questionnaire was administered to nursing students of the three-year course of the University of Palermo. Adjusted Odds Ratio (aOR) are presented. Results: 301 nursing students (63.12 % female) completed the questionnaire (response rate 61.17%). The average age of the sample is 21.88 years (SD ± 2.80). Considering as a dependent variable: “I currently smoke”, the statistically significant independent variables associated are: “Male gender” (aOR 2.09), “Single” (aOR 2.06), “Second…
Balance Training With a Dynamometric Platform Following Total Knee Replacement: A Randomized Controlled Trial.
2018
Background and Purpose: Sensorimotor training has proven to be an efficient approach for recovering balance control following total knee replacement (TKR). The purpose of this trial was to evaluate the influence of specific balance-targeted training using a dynamometric platform on the overall state of balance in older adults undergoing TKR. Methods: This was a randomized controlled clinical trial conducted at a university hospital rehabilitation unit. Patients meeting the inclusion criteria were randomly assigned to a control group or an experimental group. Both groups participated in the same 4-week postoperative rehabilitation training protocol. Participants in the experimental group per…
Body appreciation and body appearance pressure in Norwegian university students comparing exercise science students and other students
2021
Abstract Background Body image is considered a core issue for public health and associates with university students’ overall health. Due to positive associations between exercise and body image, it has been suggested that students within an exercise science program might be more body appreciative compared to other students. On the other hand, the strong societal idealization of the athletic body may expose them to a pressure of having a specific body appearance, which may result in unfavorable health consequences. Nevertheless, studies investigating these hypotheses are lacking. We therefore aimed to explore the level and associations of body appreciation, body appearance pressure, body ima…