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Published on BioPortfolio: 2018-02-26T20:24:12-0500
Autism Spectrum Disorder is a neurodevelopmental disorder characterized by impaired social communication and repetitive or stereotyped behaviors. According to the World Health Organization...
To test efficacy and safety of a novel nasal spray of oxytocin on social deifies in autism spectrum disorder, and To compare effect sizes of different doses
The investigators will conduct a randomized placebo-controlled trial of a computerized intervention targeting cognition in 30 teens with autism spectrum disorder.
This study aims to find out the incidence of a reduced light adapted electroretinogram (ERG) b-wave amplitude in children with a diagnosis of Autism Spectrum Disorders (ASD).
The purpose of this study is to determine whether Teleconsultation would a)be effective and cost-effective by increasing the proportion of patients with Autism Spectrum Disorders having a ...
Zellweger syndrome is the most severe form of a group of autosomal recessive disorders with defective peroxisomes. We report a case of Zellweger syndrome in a newborn baby, which was first suspected b...
Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in PEX genes. Its clinical course is characterized by progressive hearing and vision loss, an...
The diagnostic performance of the oscillometric ankle brachial index (ABI) to detect peripheral arterial disease (PAD) varies among populations, suggesting a spectrum effect. When this heterogeneity m...
There is a paucity of data on the spectrum of renal diseases prevalent in the Jammu and Kashmir region.
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
A broad-spectrum spectrum antineoplastic antibiotic isolated from Streptomyces refuineus var. thermotolerans. It has low toxicity, some activity against Trichomonas and Endamoeba, and inhibits RNA and DNA synthesis. It binds irreversibly to DNA.
A technique used to measure the rate of physiological activity plotted against wavelength of light. An action spectrum depicts the most effective wavelength of light (also known as spectral sensitivity) that is required for each specific process.
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female through pseudohermaphrodite to phenotypic male, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.