1.Dietary Patterns and Cardiovascular Risk Factors in Essential Hypertensives
Li-Song LIU ; Qi HUA ; Bei-Lei PANG ;
Chinese Journal of Hypertension 2007;0(03):-
Background Although great advances have been made in prevention and treatment of CVD through drug therapies and other procedures,diet and lifestyle modification remain the foundamental aspects in clinical inter vention for prevention and treatment of hypertension.Objective The purpose of this research is to investigate the impact of variour dietary patterns on traditional cardiovascular risk factors in essential hypertensives in Beijing area. Food frequency questionnaire (FFQ) survey was carried out in a cohort of 424 patients of hypertension.Methods All participants completed an FFQ.Baseline clinical data (height,weight,waist circumference and biochemical da- ta) were collected by physical examination and biochemical assay.According to their dietary patterns,three dietary pattern were delineated:vegetarian diet(n=95),meat dominant diet(n=133) and balanced diet(n=196).Clinical and biochemical data were compared between them,and analyzed by multivariate logistic regression models.Results 1)The morbidity of obesity in meat dominant people was significant higher than vegetarians (46.6% vs 21.7%,P
2.Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation.
Ting PANG ; Jie LEI ; Hui ZHENG ; Bei XU ; Wei-ying JIANG ; Hong-yi LI
Chinese Journal of Medical Genetics 2011;28(1):1-5
OBJECTIVETo provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China.
METHODSPCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at mid-pregnancy.
RESULTSThe three patients were all OCA4, whose genotypes were G349R/c.870delC, G349R/P419L and G349R/D160H, respectively. The three couples had been diagnosed as carriers. In family 1, the first fetus was diagnosed as affected. Termination of pregnancy was opted following genetic counseling. The second fetus (monozygotic twin) was heterozygous only with the paternal G349R mutation. The fetus in family 2 did not get either one of the two mutations. The fetus in family 3 was heterozygous only with the paternal G349R mutation.
CONCLUSIONThis study detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c.870delC. The prenatal gene diagnosis of OCA4 will be important to prevent the birth of affected child.
Albinism, Oculocutaneous ; diagnosis ; genetics ; Amino Acid Sequence ; Antigens, Neoplasm ; chemistry ; genetics ; Child ; Child, Preschool ; Female ; Humans ; Male ; Membrane Transport Proteins ; chemistry ; genetics ; Molecular Sequence Data ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Sequence Analysis, DNA