Copper is an essential trace element required by all living organisms. Excess amounts of copper, however, results in cellular damage. Disruptions to normal copper homeostasis are hallmarks of three genetic disorders: Menkes disease, occipital horn syndrome, and Wilson's disease. Menkes disease and occipital horn syndrome are characterized by copper deficiency. Typical features of Menkes disease...

Objective. Currently, total thyroidectomy (TT) is widely used to treat benign thyroid diseases and thyroid carcinoma. The differential diagnosis between benign and malignant thyroid disorders and the potential identification of thyroid microcarcinomas with biochemical markers remain controversial. This retrospective study aimed to estimate the prognostic validity of thyroid autoantibodies, thyr...

A.N AREA of significant medical progress over the past decade has been the recognition and the biochemical characterization of an ever-increasing number of human hereditary diseases (1). Some of the practical consequences have been the development of objective chemical and biochemical methods for more precise diagnoses of a large number of these diseases (many of them newly recognized) and the ...

In recent years there has been a growing interest towards pediatric movement disorders (PMD). The data derived from the synthesis of clinical observation, neuroimaging, biochemical and, molecular genetics studies have allowed for the identification of a significant number of pediatric diseases featuring movement disorders. The purpose of this review is to outline an approach to the advances in ...

LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xq localization chromosome Xq27 localization chromosomal disorders chromosomal fragility, instability, breakage chromosome breakage syndromes foetal-amniotic biochemical data hypoxanthine-guanine phpsphoribosyltransferase defect (foetal) gene, structural-functional anomalies gene ana...

Biochemical integrity of the brain is vital for normal functioning of the central nervous system (CNS). One of the factors contributing to cerebral biochemical impairment is a chemical process called oxidative stress. Oxidative stress occurs upon excessive free radical production resulting from an insufficiency of the counteracting antioxidant response system. The brain, with its high oxygen co...

The newborn screening (NBS) programme is a complex and organised system consisting of family and personal education, biochemical tests, confi rmatory biochemical and genetic tests, diagnosis, therapy, and patient follow-up. The programme identifi es treatable metabolic disorders, possibly when still asymptomatic, by using dried blood spot (DBS). Over the last 20 years, tandem mass spectrometry ...

Hypertensive disorder in pregnancy (HDP) is one of the major cause of maternal and perinatal mortality & morbidity worldwide particularly in developing countries. In developed countries, maternal mortality rate varies from 4-40 per 1 lakh live birth. In developing countries, it varies from 100-700 with India having 178 per 1 lakh live birth. Objective: Study of biochemical markers and uterine a...

Background  Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder. There is a large quantity of evidence which point towards a positive correlation between Autism and Mitochondrial disorders (MD). In addition to that, several published reports, indicate that people with neurological disorders exhibit pathological signs of mitochondrial disorders and vice versa. Screening for underly...