Search results for " Preschool."

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 Among these 14 mutations, 10 have been unpublished until now.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…

Physical Activity from Childhood to Adulthood and Cognitive Performance in Midlife

2019

Introduction: Physical activity (PA) has been suggested to protect against old-age cognitive deficits. However, the independent role of childhood/youth PA for adulthood cognitive performance is unknown. This study investigated the association between PA from childhood to adulthood and midlife cognitive performance. Methods: This study is a part of the Cardiovascular Risk in Young Finns Study. Since 1980, a population-based cohort of 3596 children (age, 3–18 yr) have been followed up in 3- to 9-yr intervals. PA has been queried in all study phases. Cumulative PA was determined in childhood (age, 6–12 yr), adolescence (age, 12–18 yr), young adulthood (age, 18–24 yr), and adulthood (age, 24–37…

Hearing loss in Fabry disease: data from the Fabry Outcome Survey

2006

Hearing loss is a common symptom in Fabry disease, but neither its natural course nor its aetiology has been defined precisely. The aim of this study was to provide a detailed epidemiological description of hearing impairment in patients in the Fabry Outcome Survey (FOS), which is the largest available database of Fabry patients. Questionnaires were completed by 566 Fabry patients, of whom 316 reported ear-related symptoms. Pure-tone audiograms from 86 patients, performed before starting enzyme replacement therapy, were analysed and compared with age- and sex-specific normal values (International Organization for Standardization, ISO 7029). When compared to an age-matched population (ISO 70…

Unexplained Elevated Serum Pancreatic Enzymes: A Reason to Suspect Celiac Disease

2006

BACKGROUND & AIMS: The frequency of elevated serum pancreatic enzymes in patients with celiac disease (CD) is unknown. The aim of this study was to evaluate the serum levels of pancreatic enzymes in CD patients. METHODS: Serum pancreatic isoamylase and lipase levels were assayed in 90 adult and 112 pediatric consecutive CD patients at diagnosis and after 12 months of gluten-free diet (GFD). Serum elastase and trypsin levels were assayed in a subgroup of adult CD patients. Pancreatic ultrasonography was also performed. RESULTS: Twenty-six adult (29%) and 29 pediatric (26%) CD patients exhibited elevated values of serum pancreatic amylase and/or lipase; trypsin was elevated in 69% and elastas…

2',5'-Oligoadenylate synthetase activity analysis and human papilloma virus typing as prognostic factors in patients with recurrent respiratory papil…

2004

Objective: Determination of early prognostic factors in patients with recurrent respiratory papillomatosis is extremely important, so the major goal of our prospective, multicentre study was to evaluate (1) the feasibility of various factors to determine prognosis of the clinical course,as well as (2) the response to interferon-alpha therapy in recurrent respiratory papillomatosis. Methods: Forty-two patients with recurrent respiratory papillomatosis were treated with interferon-alpha (3 MU/m2 three times per week; mean therapy duration was 2.7 ± 1.8 years)in 1983–1994 and followed-up until 2003. Human papilloma virus (HPV) type, recurrent respiratory papillomatosis severity and 2′,5′-oligo…

Patients with soft tissue sarcoma comprise a higher probability of comorbidities than cancer-free individuals. A secondary data analysis.

2016

Soft tissue sarcoma comprises a heterogeneous group of solid malignant tumours. Comorbidities are important prognostic factors for survival and adversely impact quality of life. We examined the complex relationship between soft tissue sarcoma and comorbidities over time in a large population-based sample. The study uses routine data from the German statutory healthcare system (n = 2,615,865). Case identification of soft tissue sarcoma and comorbid diseases was based on ICD-10 codes and diagnostic modifiers. Uni- and multivariate regression models were used to obtain risk estimates for chronic somatic and mental comorbidities in soft tissue sarcoma patients compared to a cancer-free control …

EPIDEMIOLOGICAL SURVEILLANCE OF VISCERAL LEISHMANIASIS IN SICILY, ITALY

1997

Abstract Visceral leishmaniasis (VL) is endemic in Sicily. Although it is a notifiable disease, there is evidence that the actual number of cases is higher than that reported. In 1987, a regional reference center for active surveillance of VL was established and it recorded a total of 284 cases through 1995, a mean of 31.5 cases/year and about four-fold more than previously reported. Of the 284 cases, 150 (53%) were children (≤ 14 years of age), and of the 134 adults, 39 (29%) were coinfected with human immunodeficiency virus (HIV). The commonest viscerotropic zymodeme of Leishmania infantum, MON 1, was identified in 40 (93%) of 43 HIV-negative and eight (57%) of 14 HIV-positive patients. A…

Use of Interferon-Alpha in Recurrent Respiratory Papillomatosis: 20-Year Follow-up

2005

Objectives: The aim of this study was analysis of the results of use of interferon-α (IFN-α) in patients with recurrent respiratory papillomatosis (RRP) and correlation of the results with human papillomavirus (HPV) type. Methods: A multicenter prospective series (42 patients from 22 hospitals) yielded 20 years of follow-up of patients with RRP and HPV typing who were treated with IFN-α in doses of 3 MU/m2 3 times per week. Results: During long-term follow-up (mean ± SD, 172 ± 36.8 months), the rate of event-free survival evaluated by Kaplan-Meier analysis was 42.8%, and the overall survival rate was 82.6%. The HPV typing revealed an association of HPV 11 with a more aggressive disease cour…

Birthweight and its association with retinal vessel equivalents – Results from the population‐based German Gutenberg Health Study

2020

Combined EEG and MEG analysis of early somatosensory evoked activity in children and adolescents with focal epilepsies

2006

Abstract Objective The study aimed to evaluate differences between EEG and MEG analysis of early somatosensory evoked activity in patients with focal epilepsies in localizing eloquent areas of the somatosensory cortex. Methods Twenty-five patients (12 male, 13 female; age 4–25 years, mean 11.7 years) were included. Syndromes were classified as symptomatic in 17, idiopathic in 2 and cryptogenic in 6 cases. 10 patients presented with malformations of cortical development (MCD). 122 channel MEG and simultaneous 33-channel EEG were recorded during tactile stimulation of the thumb (sampling rate 769 Hz, band-pass 0.3–260 Hz). Forty-four hemispheres were analyzed. Hemispheres were classified as t…