Naseem Aslam Channa

Clinical Evaluation and Serum Lipid Profile between Individuals with Acute Hepatitis C

Aim: Hepatitis C virus (HCV) exerts an intense impact on host lipid metabolism. It has been shown that the synthesis of cholesterol and fatty acids (FA) is directly affected in HCV patients but serum FA profile of acute HCV patients have not been directly quantified in humans. Methodology: In present study the serum lipid and FA’s profile (free and total) of acute hepatitis C patients (n=50) is evaluated in comparison to healthy controls (n=50). The acut e HCV patient ’ s were diagnosed by center of diseases control (CDC) criteria. Blood hematology, serum proteins, enzymes, waste metabolites and nutrition status were also assessed by standard methods. Results: The acute HCV patie nts have significantly lower (P <0.05) lipid profile including triglycerides, cholesterol, HDL and LDL in relation to controls. Results of serum lipid FA’s (total and Original Research Article

A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred

Skeletal dysplasias (SDs) are highly heterogeneous disorders composed of 40 clinical sub‐types that are part of 456 well‐delineated syndromes in humans. Here, we enrolled consanguineous kindred from a remote area of Sindh province of Pakistan, with 14 affected individuals suffering with short stature, kyphoscoliosis, joint dislocations, clubfoot, heart valve anomalies and progressive bilateral mixed hearing loss. To identify pathogenic variants in this family, whole exome sequencing (WES) was performed in one affected and one normal individual, which revealed a novel transversion mutation (c.802G>T; p.Glu268*) in CHST3 associated with the phenotype. CHST3 encodes a chondroitin 6‐O‐sulfotransferase‐1 (C6ST‐1) enzyme that is essential for the sulfation of proteoglycans found in cartilages. Previously, mutations in CHST3 have largely been reported in sporadic cases of SD, primarily with severe spinal abnormalities, joint dislocations, joint contractures, and clubfoot. Clinical and radiological examination of the affected individuals in this family provides new insights into phenotypic spectrum of CHST3 alleles and disease progression with age.

Serum lipids as an indicator for the alteration of liver function in patients with hepatitis B

BackgroundHepatitis B virus (HBV) exerts an intense impact on host lipid metabolism. Hence the aim of present study is to determine metabolic derangement that occurred in subjects suffering from hepatitis B patients.MethodsThe fasting blood samples were collected from hepatitis B patients (n = 50) attended in Taluka hospital TandoAdam, Sindh with age and gender matched controls (n = 50). Serum lipid profile and fatty acid (FA) composition were analyzed by micro-lab and gas chromatography.ResultsThe hepatitis B patients have significantly lower level (p < 0.01) of lipid profile including total cholesterol (TC), triacylglyceride (TAG), high density lipoprotein-C (HDL-C) very low density lipoprotein-cholesterol (VLDL-C), low density lipoprotein-cholesterol (LDL-C), and total lipid (TL) in comparison to controls, indicating hypolipidemia in patients. The result of total FA composition of HBV patients in comparison to controls reveal that myristic, palmitic, docosahexaenoic acids were significantly (p < 0.05) higher, while linoleic, eicosatrienoic, arachidonic, eicosapentaenoic acids were lower in HBV patients in comparison to controls. The elongase, ∆5 and ∆6-desaturase enzymes activities were found lower, while ∆9-desaturase activity was higher in hepatitis B patients as compared to controls, which indicates the impaired lipid metabolism.ConclusionThe serum saturated fatty acid (SFA) and monounsaturated fatty acid (MUFA) were increased while polyunsaturated fatty acid (PUFA) was reduced in both total and free form in hepatitis B patients due to altered activities of enzyme desaturases with impaired PUFA metabolism and non-enzymatic oxidation.