CARDIOVASCULAR DISORDERS cardiac congenital defects cardiopathy, congenital DERMATOLOGICAL DISORDERS cutis, dysplastic, not including ectodermal dysplasia cutis, aplasia, skin atrophy GENITAL DISORDERS genital dysfunctions hypogenitalism, hypogonadism; small testes, microorchidism, hypoplastic scrotum male genitalia, modifications not including ambiguity cryptorchidism JOINT DISORDERS joint, mo...

Autism spectrum disorders (ASD) are a heterogeneous group of disorders which have complex behavioural phenotypes. Although ASD is a highly heritable neuropsychiatric disorder, genetic research alone has not provided a profound understanding of the underlying causes. Recent developments using biochemical tools such as transcriptomics, proteomics and cellular models, will pave the way to gain new...

Locomotor disorders are very common in the equine clinic, which may be partly due to the different types of activities horses develop. Osteoarthritis (OA), commonly known as degenerative joint disease, presents an considerable role in the series of disorders of the musculoskeletal system and may be associated with other problems such as navicular syndrome, periostitis or osteochondrosis. This a...

Tandem mass spectrometry (MS/MS) has become a key technology in the fields of biochemical genetics and newborn screening. The development of electrospray ionisation (ESI) and associated automation of sample handling and data manipulation have allowed the introduction of expanded newborn screening for disorders which feature accumulation of acylcarnitines and certain amino acids in a number of p...

Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the P...

neuromuscular disorders encompass a broad spectrum of disorders from the anterior horn cell to the muscle tissue itself. the given condition can be either genetic or acquired. these group of disorders are diagnostically challenging as many of them also pose other systemic findings. one example would the commonly seen mental retardation in duchenne muscular dystrophy. from the practical point of...

A hypothesis is presented that electronic and vibrational resonant energy states are important in biochemical reactions due to their coupling to hydrogen transfer reactions. The hypothesis is based upon (1) the involvement of hydrogen in most biochemical reactions, (2) the unique abiity of hydrogen to act as an energy trap for resonant energy and (3) demonstrations of the coupling of resonant e...

Background: Hypertensive disorders of pregnancy (HDP) are a common cause morbidity and mortality. Inflammation is considered as one the etiologic factors along with complex interplay multiple genetic, nutritional other environmental agents. This study was undertaken to find association biochemical markers severity time onset HDP. Methods: Institutional review board ethics committee approval tak...