Search results for " Preschool."
showing 10 items of 2092 documents
The Role of Third Ventriculostomy in the Management of Obstructive Hydrocephalus
2003
Objective: Endoscopic third ventriculostomy (ETV) is an effective treatment for occlusive hydrocephalus caused by an obstruction of the CSF flow in the aqueduct or the posterior fossa. We evaluated the factors age, pathology and surgical technique on the results of the ETV. Methods: Between November 1992 and October 2000 171 ETV have been performed in 159 patients. The follow-up was evaluated in 150 patients. The age ranged from 10 days to 77 years (mean age 35 years). The hydrocephalus was caused by benign aqueductal stenosis in 77 patients, space-occupying lesions in 59, by intraventricular hemorrhages in 11, and by other causes in 3 patients. The trajectory was planned in 31 patients by …
Hyperendemic fascioliasis associated with schistosomiasis in villages in the Nile Delta of Egypt.
2003
Coprologic surveys were carried out in villages of the Behera Governorate in the Nile Delta region of Egypt to characterize the epidemiologic features of human fascioliasis caused by Fasciola hepatica and F. gigantica in this lowland endemic area by comparison with fascioliasis caused by only F. hepatica in areas hyperendemic for human disease in the Andean highlands of South America. The fascioliasis prevalences detected (range = 5.2-19.0%, mean = 12.8%) are the highest obtained in Egypt. The comparison with previous results suggests that in the Nile Delta, fascioliasis is spreading from an original situation of sporadic human cases in well-known endemic foci for animal disease to an endem…
The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects
2013
Abstract Objectives The objectives of this study are to quantify endurance and respiratory function and better characterize spectrum of symptoms and biochemical abnormalities in mucopolysaccharidosis IVA subjects. Methods MorCAP was a multicenter, multinational, cross sectional study amended to be longitudinal in 2011. Each study visit required collection of medical history, clinical assessments, and keratan sulfate (KS) levels. Results Data from the first visit of 325 subjects (53% female) were available. Mean age was 14.5 years. Mean ± SD height z-scores were − 5.6 ± 3.1 as determined by the CDC growth charts. Mean ± SD from the 6-minute-walk-test was 212.6 ± 152.2 m, revealing limitation…
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome
2015
Objectives: Baseline data from the Morquio A Clinical Assessment Program (MorCAP) revealed that individuals with Morquio A syndrome show substantial impairment in multiple domains including endurance and respiratory function (Harmatz et al., Mol Genet Metab, 2013). Here, 1- and 2-year longitudinal endurance and respiratory function data are presented.Methods: Endurance was assessed using the 6-minute walk test (6MWT) and the 3-minute stair climb test (3MSCT). Respiratory function was evaluated by measuring forced vital capacity (PVC) and maximum voluntary ventilation (MW). Data were analyzed using repeated measures ANCOVA models. Annualized estimates of change were determined using model es…
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
2006
Purpose: To evaluate the safety and efficacy of recombinant human iduronate-2-sulfatase (idursulfase) in the treatment of mucopolysaccharidosis II. Methods: Ninety-six mucopolysaccharidosis II patients between 5 and 31 years of age were enrolled in a double-blind, placebo-controlled trial. Patients were randomized to placebo infusions, weekly idursulfase (0.5 mg/kg) infusions or every-other-week infusions of idursulfase (0.5 mg/kg). Efficacy was evaluated using a composite endpoint consisting of distance walked in 6 minutes and the percentage of predicted forced vital capacity based on the sum of the ranks of change from baseline. Results: Patients in the weekly and every-other-week idursul…
Prenatal vitamin supplementation and pediatric brain tumors: huge international variation in use and possible reduction in risk
1998
An international case-control study of primary pediatric brain tumors included interviews with mothers of cases diagnosed from 1976-1994 and mothers of population controls. Data are available on maternal vitamin use during pregnancy for 1051 cases and for 1919 controls in eight geographic areas of North America, Europe and Israel. While risk estimates varied by study center, combined results suggest that maternal supplementation for two trimesters may decrease risk of brain tumor [odds ratio (OR)=0.7; 95% confidence interval (CI)=0.5-0.9], with a trend toward less risk with longer duration of use (P trend= 0.0007). The greatest risk reduction was among children diagnosed under 5 years of ag…
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
2008
We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected in FHL1 affected highly conserved zinc coordinating residues within the second LIM domain and lead to the formation of aggregates when transfected into cells. Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients. Patients were ascertained via th…
Symptom prevalence in the last days of life in Germany: the role of place of death.
2011
Investigations have shown that symptom prevalence varies according to the place of death. We sought to assess the symptom prevalence of chronically ill people in Germany and how this prevalence differs depending on the place of death. We sent questionnaires to 5000 bereaved people in Rhineland-Palatinate (Germany), whose relatives died between May 25 and August 24, 2008. In all, 3832 questionnaires were delivered and 1378 completed (response 36.0%). Most decedents had moderate-to-severe weakness (94.5%), fatigue (93.5%), need for help in daily activities (87.9%), and appetite loss (87.4%). Pain and dyspnea were most severe in hospitals; fatigue, confusion/disorientation, and problems with w…
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
2000
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. To investigate whether TRPS III is caused by TRPS1 mutations and to establish a genotype-phenotype correlation in TRPS, we performed extensive mutation analysis and evaluated the height and degree of brachydactyly in patients with TRPS I or TRPS III. We found 35 different mutations in 44 of 51 unrelated p…
Production of Anti-Endomysial Antibodies in Cultured Duodenal Mucosa: Usefulness in Coeliac Disease Diagnosis
2002
Although anti-endomysial antibodies (EmA) have been found in the supernatants of cultured intestinal mucosa from patients with coeliac disease (CD), in no study has the clinical reliability of this new diagnostic tool been investigated. Our aims were to evaluate the clinical usefulness of the in vitro production of EmA in CD diagnosis in consecutive patients with suspected CD, and to evaluate the reliability of the in vitro challenge in CD patients on a gluten-free diet (GFD).For the former aim, consecutive patients who were due to undergo intestinal biopsy for suspected diagnosis of CD were enrolled: according to the final diagnosis, these patients were divided into two groups: Group 1 com…