ABSTRACT
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic degenerative diseases caused by genetic mutations and characterized by iron deposition in the central nervous system, especially in the basal ganglia, with an overall incidence rate of 2/1 000 000-3/1 000 000. Major clinical manifestations are extrapyramidal symptoms. This disease is presently classified into 14 different subtypes based on different pathogenic genes, and its pathogenesis and treatment remain unclear. This article summarizes the research advances in the pathogenesis and treatment of NBIA, so as to help pediatricians understand this disease and provide a reference for subsequent research on treatment.
Subject(s)
Humans , Basal Ganglia , Basal Ganglia Diseases , Brain , Iron , Iron Metabolism Disorders/therapyABSTRACT
<p><b>OBJECTIVE</b>To observe the therapeutic effects of Qinggan Huatan Huoxue Recipe (QHHR) on patients with non-alcoholic steatohepatitis (NASH).</p><p><b>METHODS</b>One hundred and fifty NASH patients were randomly assigned to the treatment group (78 cases) and the control group (72 cases). QHHR was given to patients in the treatment groups, while Danning Tablet was given to those in the control group. The therapeutic course for all was three months. Before and after treatment changes of clinical symptoms and physical signs, liver imageology, liver functions, blood lipids, and insulin resistance index (IRI) were observed.</p><p><b>RESULTS</b>Compared with before treatment, obvious improvement of clinical symptoms, weight, body mass index (BMI), liver functions, blood lipids, and integral of liver ultrasound B was obtained in the two groups (P < 0.05). The IRI of the treatment group was significantly reduced after treatment (P < 0.05). Better effects were obtained in lowering the body weight, BMI, alanine aminotransferase (ALT), gamma glutamyltransferase (gamma-GT), triglyceride (TG), total cholesterol (TC), integral of liver ultrasound B, and the total effective rate (P < 0.05).</p><p><b>CONCLUSIONS</b>QHHR had definite effects on NASH. Its therapeutic effects were better than Danning Tablet.</p>
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Drugs, Chinese Herbal , Therapeutic Uses , Fatty Liver , Drug Therapy , Non-alcoholic Fatty Liver Disease , PhytotherapyABSTRACT
<p><b>OBJECTIVE</b>To investigate the -3826A/G polymorphism in the promoter of the uncoupling protein-1 (UCP1) gene and its relations to obesity in Chinese population.</p><p><b>METHODS</b>Three hundred and eighty-four subjects (257 non-obese and 127 obese individuals) from a population of Chinese Han nationality in Chengdu area were studied using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPs). Serum lipids were measured by enzymatic kits and apolipoproteins A I, A II, B100, C II, C III and E were measured by the RID kits.</p><p><b>RESULTS</b>The frequencies of A and G alleles at -3826A/G site in obese and non-obese groups were 0.508 and 0.492, and 0.467 and 0.533, respectively. It showed no significant difference in allele frequencies between non-obese and obese groups (P > 0.05). In the obese group, subjects with genotype GG had higher serum apo B100 concentrations, and those with genotype AG had higher apo C II and apo C III levels, than those with genotype AA, respectively (P < 0.05). In non-obese male subgroup, subjects with genotype GG had lower serum HDL-C and apo A I levels than those with genotype AA, respectively (P < 0.05), whereas those with genotype AG had lower apo A II levels than those with genotype AA. In addition, in obese males with genotype GG had elevated apo B100 levels compared with those with genotype AA, whereas in obese females with genotype GG had decreased apo AI levels and genotype AG had increased apo C II and apo C III levels compared with those with genotype AG and AA, respectively (P < 0.05).</p><p><b>CONCLUSION</b>-3826A/G polymorphism in the promoter of the uncoupling protein-1 gene was not associated with obesity in Chinese Han population of Chengdu area. It may be associated with serum HDL-C, apo A I and apo B100 levels in non-obese and/or obese subjects of certain genders.</p>