Search results for " Defects"
showing 10 items of 294 documents
Arterial Stiffness and Its Relationship to Cardiorespiratory Fitness in Children and Young Adults with a Fontan Circulation
2019
There are no previous studies on arterial stiffness and its associations with cardiorespiratory fitness in young Fontan patients. Therefore, we examined the arterial stiffness and its relationship to cardiorespiratory fitness in children and young adults with a Fontan circulation. Altogether, 17 Fontan patients and 26 healthy controls (16 females and 27 males aged 8–40 years) participated in this cross-sectional study. The cardiorespiratory fitness was assessed by cardiopulmonary exercise testing on a cycle ergometer and was defined as the standard deviation scores (SDS) of peak oxygen uptake per body mass (VO2peak/kg) based on the national reference values and assessed with cardiopulmonary…
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…
Advancement Perforator Cheek Flap for Aesthetic One-Stage Reconstruction of Postoncological Extended Split-Thickness Defects of the Nasal Sidewall
2013
Aesthetic reconstruction of soft tissue nasal sidewall loss has an important influence on the appearance of the nose. The unique character of this subunit and the complex relationships with a number of different facial or nasal subunits make the excision of large tumors difficult to manage. Numerous techniques are described in the literature, but a primary reconstruction with a final good result is not often possible. The authors develop an advancement cheek flap for an aesthetic one-stage reconstruction of postoncological extended nasal sidewall defects. Between January 2009 and July 2012, 16 patients (mean age, 63.3 yr) underwent excision of skin tumors of nasal sidewall and immediate rec…
New iPAD-based test for the detection of color vision deficiencies.
2018
Purpose: To develop and validate a new iPad-based color vision test (Optopad). Methods: A total of 341 student eyes were enrolled in a first comparative study between Optopad and the Isihara tests. In a second comparative study, Optopad vs. the Farnworth-Munsell test (FM 100H), a total of 66 adult eyes were included. Besides the agreement between tests, the correlation between FM 100H and Optopad outcomes were investigated. Multiple regression analysis was used to predict the total error score (TES) from contrast thresholds measured with the Optopad test. Results: The Ishihara and Optopad tests detected the same anomalous patients. Concerning FM 100H vs. Optopad, 10 subjects were diagnosed …
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.
Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: Guidelines of the Italian Society for …
2009
The optimal management of bleeding or its prophylaxis in patients with disorders of platelet count or function is controversial. The bleeding diathesis of these patients is usually mild to moderate: therefore, transfusion of platelet concentrates may be inappropriate, as potential adverse effects might outweigh its benefit. The availability of several anti-hemorrhagic drugs further compounds this problem, mainly because the efficacy/suitability of the various treatment options in different clinical manifestations is not well defined. In these guidelines, promoted by the Italian Society for Studies on Haemostasis and Thrombosis (Società Italiana per lo Studio dell'Emostasi e della Trombosi […
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
2004
Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it …
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…
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…
Light-Induced Formation of Pb3+Paramagnetic Species in Lead Halide Perovskites
2018
Hybrid halide perovskites are soft materials processed at room temperature, revolutionary players in the photovoltaic field. Nowadays, investigation of the nature and role of defects is seen as one of the key challenges toward full comprehension of their behavior and achievement of high device stability under working conditions. We reveal the reversible generation, under illumination, of paramagnetic Pb3+ defects in CH3NH3PbI3, synthesized in ambient conditions, induced by the presence of Pb-O defects in the perovskite structure that may trap photogenerated holes, possibly mediated by the concomitant oxidation and migration of ions. According to the mechanism that we hypothesize, one charge…