Search results for "PROB"
showing 10 items of 8859 documents
Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study
2018
To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal, and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields.Seventy-three prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analyzed. Associated anomalies were derived from patient's medical data …
Long-term health effects on the next generation of Ramadan fasting during pregnancy
2011
Each year, many pregnant women fast from dawn to sunset during the Islamic holy month of Ramadan. Medical theory suggests that this may have negative long-term health effects on their offspring. Building upon the work of Almond and Mazumder (2008), and using Indonesian crosssectional data, I show that people who were exposed to Ramadan fasting during their mother's pregnancy have a poorer general health and are sick more often than people who were not exposed. This effect is especially pronounced among older people, who, when exposed, also report health problems more often that are indicative of coronary heart problems and type 2 diabetes. The exposed are a bit smaller in body size and weig…
Clinical and microbiological findings in patients with peri-implantitis: a cross-sectional study
2015
Objective The aim of this study was to analyze clinical and microbiological characters in subjects and implants affected and not affected by peri-implantitis. Additionally, same features were analyzed also intra-individually, comparing healthy and diseased implants within the same subject. Materials and methods A total of 534 patients who received at least 1 implant and coming to routine check-up or spontaneous visits at the University of Valencia were recruited. Clinical parameters including Bleeding on probing (BoP), Probing pocket depth (PPD), and Pi were screened. Samples for microbiological analysis were obtained from three locations: peri-implant sulci (PIS), inner parts of the implan…
Neuropsychological indicators of the vulnerability to schizophrenia
1992
Schizophrenia is associated with enduring deficits in neuropsychological functioning. It is widely undecided if the various aspects of neuropsychological impairment are a consequence of the disorder or if they are also present premorbidly and in populations at increased risk for schizophrenia (vulnerability markers). Neuropsychological deficits in healthy relatives of schizophrenic patients who are at an elevated risk for schizophrenia and who did not yet pass the period of risk would indicate that these deficits are vulnerability markers. This hypothesis was tested for three neuropsychological paradigms which have been proven to distinguish schizophrenic patients from controls. 33 siblings…
Clinical supervision as an interaction between the clinical educator and the student.
2007
The interaction between clinical educators and students is regarded as the strongest element in developing expertise and in forming students' professional identity in clinical education. Although clinical education has been studied in physiotherapy, the natural interaction between clinical educators and students has remained unanalyzed. The aim of this study was to examine how supervised learning sessions during patient treatment were constructed. The focus was on the forms of interaction between clinical educators and students in natural contexts. By videotaping 12 natural patient treatment sessions, which simultaneously comprised part of the clinical education of physiotherapy students, a…
Changes in the probability of firing of motor units following electrical stimulation in human limb muscles
1986
Changes in the probability of motor unit firing was studied in ten different muscles (six muscles in the upper extremity and four muscles in the lower extremity) of eleven healthy human subjects. The responses were elicited by the electrical stimulation of cutaneous or mixed nerves during weak voluntary contraction of the muscle studied, and were recorded by averaging the rectified surface electromyogram. In eight of the ten muscles, well-detectable, short and long latency excitatory phases were observed. The most constant and well-identified excitatory responses were observed in the first interosseus dorsalis muscle in the hand, and in the extensor digitorum brevis muscle in the foot. Thes…
Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera
1994
Summary Erythropoietin (EPO) is a potent regulator of the viability, proliferation and differentiation of erythroid progenitor cells. Its effect is mediated by binding to the erythropoietin receptor (EPO-R), a member of a new cytokine receptor family. Alterations of the EPO/EPO-R system have recently been shown to be involved in the pathogenesis of familial erythrocytosis and polycythaemia vera (PV). In order to define whether genetic changes in the EPO-R gene and its ligand play a role in the development of PV, the structure and expression levels of the EPO-R and EPO genes were examined in samples from bone marrow and/or peripheral blood mononuclear cells of 24 patients with PV. As expecte…
The PACE study: Past-year prevalence of migraine in Parma's adult general population
2012
Background: In the literature there are few data about the prevalence of primary headaches, including migraine, in the Italian general population. The PACE study (PArma CEfalea, or ‘Headache in Parma’) is an observational study aimed at detecting the prevalence and clinical features of primary headaches in the city of Parma’s adult general population. Materials and methods: A total of 904 subjects representative of Parma’s adult general population were interviewed face-to-face by a physician from the Parma Headache Centre. They were given a specially designed and validated questionnaire for the diagnosis of primary headaches according to the ICHD-II criteria. Results: Past-year adjusted pr…
Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene
2020
Abstract Aim The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES). Methods WES was performed in one patient with MODY, and candidate variants were confirmed in members of the immediate family by Sanger sequencing. Results In the proband, a new heterozygous missense mutation (c.340A>C) was identified in the NEUROD1 gene by WES analysis and confirmed by Sanger sequencing. Additional Sanger sequencing of the proband's sister and mother revealed the same heterozygous mutation. The proband and his sister displayed typical clinical characteristics of MODY, while their mother had the sa…
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene
2003
Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…