Search results for " Defects"
showing 10 items of 294 documents
Microdeletion 22q11 in complex cardiovascular malformations.
1997
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…
Structural modifications induced by electron irradiation in SiO2 glass: Local densification measurements
2009
We report a study on the structural modifications induced in amorphous silicon dioxide (a-SiO2) by electron irradiation in the dose range from 1.2?103 to 5?106?kGy. This study has been performed by investigating the properties of the 29Si hyperfine structure of the E '? center by electron paramagnetic resonance (EPR) spectroscopy. Our data suggest that the structural modifications induced by irradiation take place through the nucleation of confined high-defective and densified regions statistically dispersed into the whole volume of the material. In addition, we have estimated that in the high dose limit (D?105?kGy) the degree of densification associated to the local (within the defective r…
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene
2022
Background The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its involvement in the pathogenesis of clinical disorders is still lacking. Methods Here, we report a female 24-year-old patient diagnosed with a cardio-facio-cutaneous-like phenotype (CFC-like), characterized by epilepsy, psychomotor development delay, atopic dermatitis, congenital heart disease, hypotonia, and facial dysmorphism, who is compound heterozygote for two missense mutations in the AHNAK2 gene detected by exome sequencing. Results This patient had…
DSM-IV Combined Type ADHD Shows Familial Association With Sibling Trait Scores
2008
Contains fulltext : 69060.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a discrete clinical syndrome characterized by the triad of inattention, hyperactivity, and impulsivity in the context of marked impairments. Molecular genetic studies have been successful in identifying genetic variants associated with ADHD, particularly with DSM-IV inattentive and combined subtypes. Quantitative trait locus (QTL) approaches to linkage and association mapping have yet to be widely used in ADHD research, although twin studies investigating individual differences suggest that genetic liability for ADHD is continuously distributed throughout the population, u…
Magnetic resonance imaging of dysraphic myelodysplasia
1988
The spinal cord in 56 children and adolescents was examined by magnetic resonance imaging (MRI) many years after neonatal surgery on a meningomyelocele (average age 12 years). In a high percentage of cases, the diagnosis "tethered cord" was made. Associated anomalies were found with a frequency of 21%. Typical findings are presented and the impact of these results on therapy planning is discussed.
Direct nucleation of calcium oxalate dihydrate crystals onto the surface of living renal epithelial cells in culture
1998
Direct nucleation of calcium oxalate dihydrate crystals onto the surface of living renal epithelial cells in culture. Background. The interaction of the most common crystal in human urine, calcium oxalate dihydrate (COD), with the surface of monkey renal epithelial cells (BSC-1 line) was studied to identify initiating events in kidney stone formation. Methods. To determine if COD crystals could nucleate directly onto the apical cell surface, a novel technique utilizing vapor diffusion of oxalic acid was employed. Cells were grown to confluence in the inner four wells of 24-well plates. At the start of each experiment, diethyloxalate in water was placed into eight adjacent wells, and the pla…
Wavelength dependence of the optomotor response in zebrafish (Danio rerio)
2003
Abstract The action spectrum of motion detection in zebrafish (Danio rerio) was measured using the optomotor response in the light adapted state. The function has a single maximum at 550–600 nm, and is similar to the spectral sensitivity function of the L-cone type in the mid and long wavelength range. At shorter wavelengths the values of three of the five fish tested are lower. As in goldfish [Vis. Res. 36 (1996) 4025], the result indicates a dominance of the L-cone type with an inhibitory influence of M- or S-cones. Experiments with a red/green striped cylinder showed that the optomotor response was at minimum whenever the L-cone type was not modulated by the moving pattern. This demonstr…
Origins of radiation-induced attenuation in pure-silica-core and Ge-doped optical fibers under pulsed x-ray irradiation
2020
We investigated the nature, optical properties, and decay kinetics of point defects causing large transient attenuation increase observed in silica-based optical fibers exposed to short duration and high-dose rate x-ray pulses. The transient radiation-induced attenuation (RIA) spectra of pure-silica-core (PSC), Ge-doped, F-doped, and Ge + F-doped optical fibers (OFs) were acquired after the ionizing pulse in the spectral range of [∼0.8–∼3.2] eV (∼1500–∼380 nm), from a few ms to several minutes after the pulse, at both room temperature (RT) and liquid nitrogen temperature (LNT). Comparing the fiber behavior at both temperatures better highlights the thermally unstable point defects contribut…
Optimization of impurity profile for p-n junction in heterostructures
2005
We analyze the dopant diffusion in p-n-junction in heterostructure, by solving the diffusion equation with space-varying diffusion coefficient. For a step-wise spatial distribution we find the optimum annealing time to decrease the p-n-junction thickness and to increase the homogeneity of impurity concentration in p or n regions.
Physical Activity Among Children With Congenital Heart Defects in Germany: A Nationwide Survey
2020
Objective: In children with congenital heart defects (CHD), a sedentary lifestyle should be avoided and usually WHO recommendations on physical activity (PA) are supposed to be followed. In order to obtain representative data of the actual amount of PA (and potential influencing factors) in children with CHD we performed a nationwide online survey.Methods: All patients aged 6–17 years registered in the German National Register for CHD were contacted by email and asked to participate in the survey using the comprehensive questionnaire of the “Motorik-Modul” from the German Health Interview and Examination Survey for Children and Adolescents (KiGGS), thus allowing the comparison with a repres…