Aged ; Female ; Humans ; Lymphoma, Large B-Cell, Diffuse ; pathology ; Urinary Bladder ; pathology

We were introducing a log-linear model for case-parent triad study.Data from a previous study of the association between MTHFR C677T aud cleft lip with or without cleft palate (CL/P) was analyzed,in order to investigate the maternal effect,fetal effect and their interaction,using a series of log-linear models.Our results showed that mothers who were carrying two copies of MTHFR C677T variant alleles appeared to have reduced the risk of CL/P in offspring,comparing to those with homozygous of wild-type allele.With S2=0.43 (95％ CI:0.19-0.95).No significant association was found for fetal genotype and maternal-fetal iuteraction with CL/P.Log-linear model method seemed to be useful in the estimation of maternal effect,fetal effect and maternal-fetal interaction,in the case-parent triad study design.This approach showed specific benefit in studies that related to genetic effects on complex diseases such as pregnancy complications and diseases originated from fetus.

Antiviral Agents ; adverse effects ; therapeutic use ; Female ; Hepatitis C, Chronic ; complications ; drug therapy ; psychology ; Humans ; Interferon-alpha ; adverse effects ; therapeutic use ; Mental Disorders ; complications ; Middle Aged

To investigate the molecular genetics basis for one para-Bombay phenotype, the red blood cell phenotype of the proband was characterized by standard serological techniques. Exon 6 and 7 of ABO gene, the entire coding region of FUT1 gene and FUT2 gene were amplified by polymerase chain reaction from genomic DNA of the proband respectively. The PCR products were purified by agarose gels and directly sequenced. The PCR-SSP and genescan were performed to confirm the mutations detected by sequencing. The results showed that the proband ABO genotype was A(102)A(102). Two heterozygous mutations of FUT1 gene, an A to G transition at position 682 and AG deletion at position 547-552 were detected in the proband. A682G could cause transition of Met-->Val at amino acid position 228, AG deletion at position 547-552 caused a reading frame shift and a premature stop codon. The FUT2 genotype was heterozygous for a functional allele Se(357) and a weakly functional allele Se(357), 385 (T/T homozygous at position 357 and A/T heterozygous at 385 position). It is concluded that the compound heterozygous mutation--a novel A682G missense mutation and a 547-552 del AG is the molecular mechanism of this para-Bombay phenotype.
ABO Blood-Group System ; genetics ; China ; DNA Mutational Analysis ; Female ; Fucosyltransferases ; genetics ; Genotype ; Humans ; Male ; Mutation ; Mutation, Missense ; Pedigree ; Phenotype ; Sequence Deletion

BACKGROUNDDelayed graft function (DGF) is common in kidney transplants from organ donation after cardiac death (DCD) donors. It is associated with various factors. Determination of center-specific risk factors may help to reduce the incidence of DGF and improve the transplantation results. The aim of this study is to define risk factors of DGF after renal transplantation.

METHODSFrom March 2010 to June 2012, 56 cases of recipients who received DCD kidneys were selected. The subjects were divided into two groups: immediate graft function (IGF) and DGF groups. Transplantation factors of donors and recipients as well as early post-transplant results of recipients were compared between the two groups.

RESULTSOn univariate analysis, preoperative dialysis time of recipients (P < 0.001), type of dialysis (P = 0.039), human leucocyte antigen (HLA) mismatch sites (P < 0.001), the cause of brain death (P = 0.027), body mass index (BMI) of donors (P < 0.001), preoperative infection (P = 0.002), preoperative serum creatinine of donors (P < 0.001), norepinephrine used in donors (P < 0.001), cardiopulmonary resuscitation (CPR) of donors (P < 0.001), warm ischemia time (WIT) (P < 0.001) and cold ischemia time (CIT) (P < 0.001) showed significant differences. Recipients who experienced DGF had a longer hospital stay, and higher level of postoperative serum creatinine.

CONCLUSIONMultiple risk factors are associated with DGF, which had deleterious effects on the early post-transplant period.

Adolescent ; Adult ; Aged ; Case-Control Studies ; Death ; Delayed Graft Function ; etiology ; Female ; Humans ; Kidney Transplantation ; adverse effects ; Male ; Middle Aged ; Retrospective Studies ; Risk Factors ; Tissue Donors

RHD gene has different alternative transcripts. This study was aimed to construct expression vector of normal mRNA, DEL9 and DEL89 transcripts from RHD gene. Total RNA was extracted from Rh(D) positive umbilical blood cells of newborn. Intact RhD cDNA, DEL9 and DEL89 transcripts were obtained by one-step and two-step RT-PCR, respectively. The obtained products were cloned into pCR4 TOPO sequencing vector for choosing the right transcript. RHD gene was amplified again from the sequencing plasmid DNA, and then subcloned into pcDNA3.1/V5-His TOPO expression vector; DEL9 and DEL89 were cloned into the expression vector directly. Gene sequence and direction were identified by sequencing. The results showed that the sequence and direction of target genes were right, thus these 3 different expression vectors were correctly constructed. It is concluded that expression vector is constructed from different transcripts of RHD gene, which lays a foundation for further exploring the membranous protein expression of Rh(D) antigen.
Cloning, Molecular ; Gene Expression ; Genetic Vectors ; Humans ; Molecular Sequence Data ; RNA, Messenger ; genetics ; Rh-Hr Blood-Group System ; genetics ; Sequence Analysis, DNA

Recently, intracytoplasmic sperm injection (ICSI) has been extremely successful in the treatment of male infertility. However, the consequent transmission of sperm cytogenetic defects and genetic defects to the offspring has aroused considerable concern. Among infertile men, those with severe spermatogenic defects, including oligozoospermia and azoospermia, are mostly the subjects for ICSI. Therefore it is very important to obtain cytogenetic and chromosomal information on these infertile patients and prevent the inheritance of these genetic defects. This review offers an analysis on the genetic defects among infertile men.
Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; genetics ; therapy ; Male ; Seminal Plasma Proteins ; genetics ; Sperm Injections, Intracytoplasmic

Objective Using flowing injection hydride generation atomic fluotometric method(FI-HG- AFM)to detect the whole blood selenium content.Methods A series of standard selenium(1,2,4,6,8.10μg/L) were dectecte by FI-HG-AFM,and the precision and accuracy of the method were observed.The selenium contents of 89 blood samples were detected by FI一HG-AFM and 2,3-diaminonaphthalene fluorometric method(DFM) respectively,and the correlation of two methods Was analyzed.Results The detection limit and recovery rate of FI-HG-AFM were 0.138μg/L and 96.4%,respectively.The relative standard deviation(RSD)was maximized at 1 μg/L(4.406%).The RSD diminished along with the increase of the concentration,and it declined to 0.512%at 10 μg/L.There wag no significant difference(t=1.7878,P>0.05)between the result8 of FI-HG-AFM[(45.9± 14.5)μg/L]and DFM[(47.5 ±13.3)μg/L],and the two methods were in highly positive correlation(r=0.8143,P< 0.01).Conclusions The whole blood selenium content call be rapidly and exactly detected by FI-HG-AFM,and the method are highly consistent with DFM.

Objective To investigate the myocardial damage in rats fed with corn from Keshan disease area added with bean puree. Methods Male Wistar rats were randomly divided into 3 groups according to their body weights, and fed with corn, corn from Keshan disease area added with bean puree, corn from non-endemic area. The GSH-Px activity of vena cardalis blood was examined in 1 and 3 months, rats were sacrificed after being fed for 6 months to examine the heart changes with HE stain. Results The three groups of GSH-Px activity were different in 1 and 3 months respectively(F=23.60,72.46, all P<0.01); GSH-Px activity was (181.58±22.15), (44.76±28.59)U/L in rats fed with corn, was (195.03±17.66), (30.38±3.35)U/L in those fed with corn added with bean puree from Keshan disease area, lower than the group fed with corn of non-endemic area[(340.90±95.42), (125.17±13.64)U/L, all P < 0.01]. But the difference of GSH-Px activity between simple corn group and corn adding bean puree groups of Keshan disease area was not obvious(P>0.05). Myocardial damage incidence of the three groups was 3/9,1/9,2/7. Difference among three groups did not have statistical significance(χ2=1.33, P> 0.05). Conclusions Only corn from Keshan disease area may induce myocardial damage pathology change. Adding bean puree into corn does not increase damage.

BACKGROUNDThe Red Cross of China and Ministry of Health jointly started a pilot program of organ donation after cardiac death to overcome the shortage of available organs since 2010. The purpose of this qualitative study were to compare the consent rate of organ donation between young donor families and adult donor families; to explore and determine factors associated with differences in willingness to donate organs between them. Research objective was to provide a rationale for further preparation of professionals involved in this sensitive work.

METHODSBetween March 2010 and June 2012, 24 young deceased patients including donors and non-donors and 96 potential adult donors were collected, and consent rates of young donors' families and adult donors' families were calculated. A χ(2) test analysis to compare the consent rates of the two groups was conducted. We studied through semistructured interviews 15 parents of young donors and 15 relatives of old donors who were interviewed for petition of consent. Data collection and analysis of the overall study were performed according to the grounded theory methodology. Factors that influenced the families' decisions were identified and classified. We found the differences in willingness to donate organs between the two groups.

RESULTSThe consent rate of young donor families was 66.67%, while the consent rate of adult donor families was 26.04%. Young donor families easily consented to organ donation than adult donor families (P < 0.005). The donors' families had been affected by various factors throughout the process of deciding to give consent for donation. The findings led to the formulation of an empirically based model of interlinking categories that influence families' decision-making process in organ donation. These factors are grouped into five main categories: (1) personal factors, (2) conditions of organ request, (3) interpersonal factors, (4) ethical factors, and (5) traditional views. The funeral tradition influenced the young donor parents' consent to donation, but had no relation with family decision of adult donors. And the family members of young donors are relatively less, who are more likely to reach a consensus.

CONCLUSIONSYoung donor families influenced by traditional funeral beliefs are easier to consent to organ donation than adult donor families. Family members of young donors are relatively less who are more likely to reach a consensus. Acceptance of the expanded criteria donors may improve the organ donation rates, especially those of the advanced age.

Adolescent ; Adult ; Age Factors ; Aged ; Cadaver ; China ; Family ; psychology ; Humans ; Middle Aged ; Tissue and Organ Procurement