Primary clinical features Retinitis pigmentosa (rod-cone dystrophy) Obesity Polydactyly Hypogonadism Intellectual disability/cognitive impairment Renal abnormalities Secondary clinical features Diabetes mellitus type II Cardiovascular problems Hearing loss Speech deficiency Behavioral problems Craniofacial dysmorphism Short stature Hepatic involvement Eye abnormalities Ataxia Dental and palatal...

malathion is one of the most commonly used pesticides in agriculture. this study was aimed to investigate the acute toxicity of malathion as an aquatic pollutant on the behavior and hematological indices in indian carp ( cirrhinus mrigala ). a static experiment was conducted and 1, 24, 48, 72 and 96 hrs lc 50 values of malathion for the test fish were estimated as 14.55 mg/l, 12.48 mg/l, 11.56 ...

Background : In every geographical area according to their social civilization, specific abnormalities and outcomes may be occurred in spinal cord and in the case of recognition they will be corrected with specific movements and proper behavioral patterns. So the aim of the present study was to investigate the rate and reasons of Khorramabad Azad university students’ spinal abnormalities. Mate...

Potocki-Lupski syndrome (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, intellectual disability and congenital anomalies, is caused by a 3.7-Mb duplication in 17p11.2. Neurobehavioral studies determined that ∼70-90% of PTLS subjects tested positive for autism or autism spectrum disorder (ASD). We previously chromosomally engineered a mouse model for PTLS (Dp(11)17/+) with a...

While autism spectrum disorder (ASD) is characterized by communication impairments, social abnormalities, and stereotypic behaviors, several medical comorbidities are observed in autistic individuals. Of these, gastrointestinal (GI) abnormalities are of particular interest given their reported prevalence and correlation with the severity of core autism-related behavioral abnormalities. This rev...

Abstract Objective The corpus callosum is a major white matter pathway of the brain that coordinates transfer information between both cerebral hemispheres. Children with complete agenesis (ACC) are at increased risk for neurodevelopmental disorders, epilepsy, and genetic abnormalities. Method This case study presents neuropsychological profile 6-year-old girl in 1st grade who was born ACC pres...

Rett syndrome (RTT), a neurodevelopmental disorder primarily affecting females, is accompanied by behavioral and neuropathological abnormalities and decreases in brain cholinergic markers. Because the cholinergic system is associated with cognitive and motor functions, cholinergic deficits in RTT may underlie some of the behavioral abnormalities. In rodents, increased choline availability durin...