Search results for "screening"
showing 10 items of 1150 documents
Developmental links of very early phonological and language skills to second grade reading outcomes: strong to accuracy but only minor to fluency.
2008
The authors examined second grade reading accuracy and fluency and their associations via letter knowledge to phonological and language predictors assessed at 3.5, 4.5, and 5.5 years in children in the Jyväskylä Longitudinal Study of Dyslexia. Structural equation modeling showed that a developmentally highly stable factor (early phonological and language processing [EPLP]) behind key dyslexia predictors (i.e., phonological awareness, short-term memory, rapid naming, vocabulary, and pseudoword repetition) could already be identified at 3.5 years. EPLP was significantly associated with reading and spelling accuracy and by age with letter knowledge. However, EPLP had only a minor link with re…
Early motor development and later language and reading skills in children at risk of familial dyslexia.
2005
Relationships between early motor development and language and reading skills were studied in 154 children, of whom 75 had familial risk of dyslexia (37 females, 38 males; at-risk group) and 79 constituted a control group (32 females, 47 males). Motor development was assessed by a structured parental questionnaire during the child's first year of life. Vocabulary and inflectional morphology skills were used as early indicators of language skills at 3 years 6 months and 5 years or 5 years 6 months of age, and reading speed was used as a later indicator of reading skills at 7 years of age. The same subgroups as in our earlier study (in which the cluster analysis was described) were used in th…
Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine
2019
Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic the…
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
1992
Hunter disease (McKusick 309900) is an X-chromosomal mucopolysaccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulphatase (IDS; EC 3.1.6.13). Diagnosis is based on both the typical clinical features of patients and the lack/reduction of IDS activity. Female carriers show no symptoms of the disease. In the past, several different assays were elaborated for measuring enzyme activity in carriers but none of them proved to be suitable for detecting heterozygotes reliably (Zlotogora and Bach 1984)
Accuracy of different cutoffs of the waist‐to‐height ratio as a screening tool for cardiometabolic risk in children and adolescents: A systematic rev…
2021
The present systematic review with meta-analysis sought to estimate the accuracy of different waist-to-height ratio (WHtR) cutoff ranges as risk indicators for cardiometabolic health in different populations of children and adolescents. Systematic searches were undertaken to identify studies in apparently healthy participants aged 3–18 years that conducted receiver operating characteristic curve analysis and reported area under the receiver operating characteristic curves for WHtR with any cardiometabolic biomarker. Forty-one cross-sectional studies were included in the meta-analysis, including 138,561 young individuals (50% girls). Higher area under summary receiver operating characteristi…
Effects of diabetes definition on global surveillance of diabetes prevalence and diagnosis: a pooled analysis of 96 population-based studies with 331…
2015
Diabetes has been defined on the basis of different biomarkers, including fasting plasma glucose (FPG), 2-h plasma glucose in an oral glucose tolerance test (2hOGTT), and HbA1c. We assessed the effect of different diagnostic definitions on both the population prevalence of diabetes and the classification of previously undiagnosed individuals as having diabetes versus not having diabetes in a pooled analysis of data from population-based health examination surveys in different regions.
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children
2009
UNLABELLED We report four children originating from two unrelated German families with congenital hypothyroidism (CH) due to mutations in the thyroid peroxidase (TPO) gene. Three female siblings (family 1) were found to be compound heterozygous for two mutations, a known mutation in exon 9 (W527C), and a mutation in exon 8 (Q446H), which has not been described before. In the second family we identified a boy with goitrous CH, who had a novel homozygous mutation in the TPO gene in exon 16 (W873X). All children of family 1 were diagnosed postnatally by newborn screening. The case of the boy of family 2 has already been reported for the in utero treatment of a goiter with hypothyroidism. CONCL…
Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies
2012
Background— Genetic determinants of peripheral arterial disease (PAD) remain largely unknown. To identify genetic variants associated with the ankle-brachial index (ABI), a noninvasive measure of PAD, we conducted a meta-analysis of genome-wide association study data from 21 population-based cohorts. Methods and Results— Continuous ABI and PAD (ABI ≤0.9) phenotypes adjusted for age and sex were examined. Each study conducted genotyping and imputed data to the ≈2.5 million single nucleotide polymorphisms (SNPs) in HapMap. Linear and logistic regression models were used to test each SNP for association with ABI and PAD using additive genetic models. Study-specific data were combined using fi…
Relationship between the practice of physical activity and quality of movement in adolescents: a screening tool using self-organizing maps.
2017
The aim of this study was to determine whether the most physically active adolescents have better lower limb control.31 high school students (12 males and 19 females) participated in this study. The Anterior Knee Pain Scale was used to find any cases of knee pain. Only subjects with high scores were selected, to exclude those with knee pain or lower limb injuries. Single Leg Squat and Tuck Jump Assessment were used to evaluate movements with two cameras in a two-dimensional assessment. The IPAQ Questionnaire was used to score the physical activity and to classify it into MET total, MET moderate activity, MET vigorous activity and MET walking. These scores were related to knee angle at landi…
Urinary ethyl glucuronide (uEtG) as a marker for alcohol consumption in liver transplant candidates: a real-world cohort
2020
In order to reduce alcohol relapse after liver transplantation (LT), the German national guidelines for waiting-list maintenance and organ allocation demand a minimum 6-month period of alcohol abstinence pre-LT, confirmed by measuring urinary ethyl glucuronide (uEtG). Between January 2015 and June 2016, uEtG was measured at least once in 339 cirrhotic patients with an indication for LT at the University Medical Center Mainz. uEtG was measured with an enzyme-linked immunosorbent assay (ELISA) screening test (cutoff value: 500 µg/L). For uEtG values ≥ 500 µg/L, liquid chromatography-mass spectrometry (LC-MS/MS) was performed as a confirmatory assay. Data were collected prospectively in a tra…