Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this disorder and showed recurrent metabolic abnormalities associated with this disease but not due t...

conclusions in general, our study suggests that the association between lep/lepr and ghrl/ghsr with overweight/obesity and the related metabolic disturbances is inconclusive. these results may be due to unidentified gene-environment interactions. more investigations are needed to further clarify this association. results the most prevalent leptin/leptin receptor genes (lep/lepr) and ghrelin/ghr...

conclusion distinct neurochemical and histological structure changes (cortico-striatal-thalamic-cortical cycle) exist in patients with first-episode ocd. 1h-mrs is capable of identifying these changes by assessing metabolic abnormalities. objectives this study aims to use magnetic resonance spectroscopy (mrs) to discover substance-metabolism abnormalities of brain circuits in patients with firs...

OBJECTIVE Metabolic abnormalities, e.g., diabetes, are common among schizophrenia patients. Peroxisome proliferator activated receptor-γ (PPAR-γ) regulates glucose/lipid metabolisms, and schizophrenia like syndrome may be induced by actions involving retinoid X receptor-α/PPAR-γ heterodimers. We examined a possible role of the PPAR-γ gene in metabolic traits and psychosis profile in schizophren...

It is estimated that hereditary hearing loss accounts for 60% of deafness in the developed countries. About 30% of hereditary hearing impairment is syndromic which involves other presenting abnormalities along with deafness. There are more than 400 syndromes which include various degrees of hearing impairment with different phenotypes. (Barlow Stewart et al., 2007; Berrettini et al., 2008). Abn...

INTRODUCTION Metabolic syndrome represents a cluster of related metabolic abnormalities, including central obesity, hypertension, dyslipidemia, hyperglycemia, and insulin resistance, with central obesity and insulin resistance in particular recognized as causative factors. These metabolic derangements present significant risk factors for cardiovascular disease, which is commonly recognized as t...

Recent studies identified the presence of a male polycystic ovarian syndrome (PCOS), which mainly affects men whose female relatives are afflicted with PCOS, caused by genes responsible for the susceptibility of this syndrome in women. Similar hormonal, metabolic, and clinical alterations occurring in PCOS women have also been reported in their male relatives, suggesting a association between t...