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showing 10 items of 4295 documents
Helicobacter pylori Infection as a Triggering Factor of Attacks in Patients with Hereditary Angioedema
2007
Udgivelsesdato: 2007-Jun BACKGROUND: Helicobacter pylori infection is considered among the causative factors of urticaria and angioedema. Having conducted a study on 65 patients, Hungarian authors reported in 2001 that successful eradication of H. pylori is followed by a significant reduction in the number of attacks in patients with hereditary angioedema (HAE). The present study aimed to reinvestigate the relationship between H. pylori infection and the attack rate in the framework of an international collaborative study. MATERIALS AND METHODS: Within the framework of the PREHAEAT project launched by the European Union, further 152 patients were studied in seven collaborating centers, an…
MAGAM II – prospective observational multicentre poisons centres study on eye exposures caused by cleaning products
2019
Objective: Local effects on the eye following cleaning product exposures are frequently reported. According to EU chemicals legislation many cleaning products are labelled with Hazard Phrase 318 in...
HLA Class I and Class II Polymorphism in Three Sicilian Populations
2007
Two human leukocyte antigen (HLA) class I loci (HLA-A and HLA-B) and one class II locus (HLA-DR) were typed at the DNA level in the Sicilian population. Study participants were of Sicilian origin (183 for class I loci and 260 for class II loci) and live in three towns, chosen on the basis of geographic position and different historical events. These towns are Sciacca (southwest Sicily, located at sea level, conquered by Arabs in a.d. 814), Piana degli Albanesi (northwest Sicily, 720 m above sea level, has maintained religious, cultural, and linguistic peculiarities traced to Albanian settlement in 1488), and Troina (northeast Sicily, 1,120 m above sea level, known as the first settlement of…
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene
2010
Chylomicron retention disease is a recessive inherited disorder characterized by fat malabsorption and steatorrhea and is associated with failure to thrive in infancy. We describe a kindred carrying a mutation of Sara2 gene causing a chylomicron retention phenotype. The proband was a 5-month-old baby, born of consanguineous, apparently healthy parents from Morocco, with failure to thrive. There was a large quantity of fats in feces and malabsorption of fat-soluble vitamins. Intestinal biopsies showed a diffused enterocyte vacuolization with large cytosolic lipid droplets. Chylomicron retention disease or Anderson disease was hypothesized, and the Sara2 gene was analyzed by direct sequencing…
Rationale and methods for a randomized controlled trial of a movement-to-music video program for decreasing sedentary time among mother-child pairs
2015
Measured objectively, under a quarter of adults and fewer than half of preschool children meet the criteria set in the aerobic physical activity recommendations of the Centers for Disease Control and Prevention. Moreover, adults reportedly are sedentary (seated or lying down) for most of their waking hours. Importantly, greater amounts of sedentary time on parents’ part are associated with an increased risk of more sedentary time among their children. A randomized controlled trial targeting mother-child pairs has been designed, to examine whether a movement-to-music video program may be effective in reducing sedentary time and increasing physical activity in the home environment. Mother-chi…
Leukocytes in neuronal ceroid-lipofuscinoses: function and apoptosis
1997
The neuronal ceroid-lipofuscinoses (NCL) are a group of progressive encephalopathies with a fatal course that are mostly of autosomal recessive inheritance. The pathophysiological mechanisms causing the diseases are not known. The characteristic histomorphological feature of the NCL is an abnormal lysosomal accumulation of lipopigments in neural and extraneural cells, including peripheral blood leukocytes. We studied the function of peripheral venous blood immunocompetent cells in ten patients with NCL and in age- and sex-matched controls to determine how, if at all, the accumulation of intracytoplasmic storage material influences the functional capacity of affected tissue. Our results did …
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psych…
2013
Abstract: Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but ha…
Early developmental milestones in adult schizophrenia and other psychoses. A 31-year follow-up of the Northern Finland 1966 Birth Cohort
2001
Abstract Delayed childhood development may precede adult psychoses. We tested this hypothesis in a large, general population birth cohort (n=12 058) followed to age 31 years. The ages at which individuals learned to stand, walk, speak, and became potty-trained (bowel control) and dry (bladder control), were recorded at a 1-year examination. Psychiatric outcome was ascertained through linkage to a national hospital discharge register. Cumulative incidence of DSM-III-R schizophrenia, other psychoses and non-psychotic disorders were stratified according to the timing of milestones and compared within the cohort using internal standardization. 100 cases of DSM-III-R schizophrenia, 55 other psyc…
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry
2017
Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This...
Risk factors for cystic fibrosis arthropathy: Data from the German cystic fibrosis registry
2021
Epidemiology and potential risk factors for cystic fibrosis arthropathy (CFA) were studied in a relevant cystic fibrosis (CF) patient cohort.Cohort study of patients included in the German CF registry in 2016-2017. Descriptive analysis, exploratory tests and multivariable logistic regression were used to assess prevalence of CFA and associated potential risk factors for adult patients with/without chronic Pseudomonas aeruginosa infection.6069 CF patients aged from 0 to 78 years were analysed. CFA was observed in 4.9% of the patients. Prevalence was significantly higher in adult patients (8.4%) compared to patients18 years (0.7%; p0.0001). Logistic regression analyses in adult patients (n=33…