Abstract Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis glycans and attachment to proteins lipids. Our study aimed describe clinical, biochemical, molecular findings CDG patients, present long-term follow-up. Material methods A single-center (1995–2019 years) patients with congenital N-glycosylation combined N- O-hypoglycosylation was performed. Resu...

The incidence of childhood neurodevelopmental disorders, which include autism, attention-deficit hyperactivity disorders, and apraxia, are increasing worldwide and have a profound effect on the behaviors, cognitive skills, mood, and self-esteem of these children. Although the etiologies of these disorders are unclear, they often accompany genetic and biochemical abnormalities resulting in cogni...

Impulsive aggression is characterized by an inability to regulate affect as well as aggressive impulses, and is highly comorbid with other mental disorders including depression, suicidal behavior, and substance abuse. In an effort to elucidate the neurobiological underpinnings of impulsive aggression and to help account for its connections with these other disorders, this paper reviews relevant...

MicroRNAs (miRs) are small non-coding single-stranded RNAs that bind to their complimentary sequences in the 3'-untranslated regions (3'-UTRs) of the target mRNAs that prevent their translation into the corresponding proteins. Since miRs are strongly expressed in cells of inner ear and play a role in regulating their differentiation, survival and function, alterations in their expression may be...

Department of psychiatry and behavior sciences Eastern Virginia Medical School Norfolk Hospitalized patients who are not truthful about their alcohol consumption may be at risk for an unplanned withdrawal. Self-reports of alcohol use—such as CAGE and the Alcohol Use Disorders Identifi cation Test (AUDIT)—are valid, inexpensive, and noninvasive, but patients easily can feign results.1 Biochemica...

Abstract Background Mutations in lysyl-tRNA synthetase ( KARS1 ), an enzyme that charges tRNA with the amino acid lysine both cytoplasm and mitochondria, have been associated thus far autosomal recessive Charcot–Marie–Tooth type CMTRIB, hearing loss DFNB89, mitochondrial encephalohepatopathy (MEH) featuring neurodevelopmental disorders microcephaly, white matter changes, cardiac hepatic failure...

Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical pathways, the term "metabolic epilepsy" can be used to include these conditions. These epilepsies can present across the life span, and share f...

kidney failure affects different aspects of normal life. among different manifestations, sleep problem can be considered as a common complaint of esrd (end stage renal disease) patients. in this study, we aimed to investigate the interrelationship between sleep disorders in esrd patients and their characteristics. through a cross-sectional study (2010-2011), 88 esrd patients undergoing maintena...

Many protein and mRNA species occur at low molecular counts within cells, and hence are subject to large stochastic fluctuations in copy numbers over time. Development of computationally tractable frameworks for modelling stochastic fluctuations in population counts is essential to understand how noise at the cellular level affects biological function and phenotype. We show that stochastic hybr...

Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly cerebellar syndromes to sensorimotor neuropathy, ophthalmological disturbances, involuntary movements, seizures, cognitive dysfunction, skeletal anomalies, and cutaneous disorders, among others. Molecular pathogenesis also...