Fertilization revisited: more than one way to launch human development

Journal of Assisted Reproduction and Genetics -     

Cardiac Surgery in Patients With Liver Cirrhosis (CASTER) Study: Early and Long-Term Outcomes

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Methodological effects on the quantitation of serum ferritin by radio- and enzymoimmunoassays

Serum ferritin is normally quantitated by sensitive radio- or enzymoimmunoassays, which are based either on a competitive reaction between the unlabelled and labelled antigen (RIA), or on a non-competitive reaction between the sample and the labelled antibody (IRMA and ELISA). Both methods appear to be satisfactory for the clinical evaluation of serum ferritin. However, the effect of these methods on the quantitation of serum ferritin has never been carefully studied. This paper describes and compares five different immunoassays for the evaluation of serum ferritin: two competitive RIAs, one non-competitive IRMA and two non-competitive ELISAs. The same anti-ferritin antibody and ferritin standards were used for all the assays. The RIAs were found to be less sensitive than either the ELISAs or the IRMA, and all showed a similar degree of cross-reactivity with ferritin extracted from spleen and HeLa cells. A significant difference between the assays was found in the determination of serum ferritin: in fact the RIAs over-estimated serum ferritin by about 50% more than the IRMA, whereas the ELISAs under-estimated serum ferritin by about 15% less than the IRMA.     

Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload

BACKGROUND: Hereditary hemochromatosis is a recessive disorder characterized by iron accumulation in parenchymal cells, followed by organ damage and failure. The disorder is mainly attributable to the C282Y and H63D mutations in the HFE gene, but additional mutations in the HFE, transferrin receptor 2 (TfR2), and hepcidin genes have been reported. The copresence of mutations in different genes may explain the phenotypic heterogeneity of the disorder and its variable penetrance. METHODS: We used denaturing HPLC (DHPLC) for rapid DNA scanning of the HFE (exons 2, 3, and 4), hepcidin, and TfR2 (exons 2, 4 and 6) genes in a cohort of 657 individuals with altered indicators of iron status. RESULTS: DHPLC identification of C282Y and H63D HFE alleles was in perfect agreement with the restriction endonuclease assay. Fourteen DNA samples were heterozygous for the HFE S65C mutation. In addition, we found novel mutations: two in HFE (R66C in exon 2 and R224G in exon 4), one in the hepcidin gene (G71D), and one in TfR2 (V22I), plus several intronic or silent substitutions. Six of the seven individuals with hepcidin or TfR2 coding mutations carried also HFE C282Y or S65C mutations. CONCLUSION: DHPLC is an efficient method for mutational screening for the genes involved in hereditary hemochromatosis and for the study of their copresence.     

The impact of active coping strategies on survival in ALS: The first pilot study

The aim of this study was to examine the coping strategies of 49 patients with amyotrophic lateral sclerosis (ALS) and the potential impact of these strategies on survival. A total of 49 subjects were recruited. Each subject was asked to complete a questionnaire on coping strategies called the Brief COPE. The various coping strategies were divided into three factor sets through a factorial analysis: active coping (α 0.84), social support (α 0.71) and avoidance (α 0.71). Each score was divided into two subgroups in relation to the median (limited use vs. frequent use). Equality of survival distributions for the different levels of coping strategies was estimated using the Kaplan-Meier (Log Rank (Mantel-Cox)) model, with adjustment for mental health (GHQ-28), disease severity (ALSFRS), clinical form at onset (bulbar vs. spinal), medical assistance (ventilation and gastrostomy), participation in a clinical trial and gender. Results revealed a significant and positive impact of active coping strategies while taking mental health, ALSFRS scores, clinical form at onset, medical assistance, participation in a clinical trial and gender into account (Log Rank (Mantel-Cox) p 相似文献