Clinical Value of Serum Ferritin Detection in Patients with Rheumatoid Arthritis Complicated with Anemia / 现代检验医学杂志

Objective To explore the clinical value of serum ferritin (sFt) detection in patients with rheumatoid arthritis (RA) complicated with anemia.Methods From January 2014 to December 2016,154 female RA patients hospitalized at Bet jing Changping Hospital of Integrated Chinese and Western Medicine were enrolled and patients without other autoimmune diseases,severe liver and kidney disease,inflammatory infections and malignant tumors were excluded.At the same time,60 age-matched healthy physical examination were selected as a reference.The two groups were generally recorded physical ex amination,laboratory tests and activity index assessment.Comparison of the results of each group for statistical processing.Results The body mass index (BMI) of patients with anemia complicated with anemia (22.69± 3.89 kg/m2 vs 24.51 ± 3.61 kg/m2,t=-3.39,P＜0.001) and serum iron [9.95 (7.75)μmol/L vs 13.30 (7.80)μmol/L,F=-1.98,P＜0.001].However,the RA activity score (DAS28) and various activity indexes were significantly higher than those of non-concurrent anemia (F=1.71～2.14,all P＜0.05).However,there was no significant difference in sFt levels between the two groups (F=0.24,P=0.659).Patients with RA complicated with anemia had significantly higher ESR in patients with high sFt levels [29 (43)mm/h vs 59 (53)mm/h,F=4.35,P＜0.001] and had higher serum lipids,hypertension,diabetes.The incidence of cardiovascular disease,osteoporosis and hyperlipidemia was also higher,but the difference was not statistically significant.Conclusion RA complicated with anemia could aggravate the patient's condition.sFt may be used to assist the diagnosis and treatment of patients with RA complicated with anemia and monitor the occurrence of RA complications.

Phenotype Types and Genetic Mutation Mechanism of Rhesus D Variant Individuals / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To explore the phenotype types and genetic mutation mechanism of Rhesus D variant individuals.</p><p><b>METHODS</b>Fouty-eight peripheral blood samples of pregnancies and blood donors who had been identified as Rhesus D variant by using routine serologic methods were collected from January 2013 to October 2015 in our center. The multiple ligation-dependent probe amplification(MLPA) was used to determine the RHD after genomic DNA had been extracted from the blood sample, then the data including gene copy number variations, point mutations, deletions and hybrid fusions were analyzed by GeneMarker software. All exons of blood sample RHD were amplified via PCR and analyzed by sequencing when its MLPA results were not in accordance with serologic results. Cloning and haplotype sequencing were performed if novel allele had been found.</p><p><b>RESULTS</b>Rh phenotypes of the 48 samples were typed as following: 20 cases out of 48 were CcDee(41.7%, 20/48),12 cases were ccDEe (25%,12/48), 11 cases were CCDee(22.9%, 11/48), 5 cases were CcDEe (10.4%, 5/48), respectively. The MLPA analysis showed that 38 cases possessed only 1 variant allele(RHD zygosity was Dd), while 10 cases possessed 2 variant alleles(RHD zygosity was DD). In Dd type individuals, point mutations were found in 18 cases and RHD/CE hybrid fusions were found in 20 cases. In DDindividuals, point mutations combined with RHD/CE hybrid fusions were found in 9 cases, deletion combined with RHD/CE hybrid fusions were found in 1 case. Variant alleles analysis basing on MLPA showed that 14 cases were weak D 15 and 22 cases were RhD VI type 3, however, the variant alleles were not identified in 7 cases due to lack of detecting probes and were identified via sequencing analysis. Two novel mutations, 79-81delCTC and 689G>A were also certificated by sequencing in 2 cases.</p><p><b>CONCLUSION</b>CcDee is the major Rh phenotype in RhD variants, weak D 15 and RhD VI type 3 are the main serologic type of RhD variants, point mutation and RHD/CE hybrid fusions are main molecular mechanism for RhD variant phenotype. Besides, 79-81delCTC and 689G>A are two novel alleles.</p>

Immunoserology and RHD Genotype Analysis of DVI Type 3 Genotype Pregnant Women with Anti-D / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To performe the immuneserological and RHD Genotype analyses for DVI type 3 genotype pregnemt women with anti-D.</p><p><b>METHODS</b>RhD blood type of this pregnant women was identified by common serological methods, then the blood group specific antibodies was screened and identified; the polymerase chain reaction-sequence specific primer(PCR-SSP) was used to identify the pregnant women's RHD genotype; RhD blood group for the pregnant women, her spouse and daughter was genogrouped and genetically analyzed by multiplex ligation-dependent probe amplification(MLPA). The heredity of this family was analyzed finally.</p><p><b>RESULTS</b>The titer of IgG anti-D in the pregnant woman serum was 1:8; the PCR-SSP showed that the 3rd to 6th exons of RHD gene were missing in the pregnant woman. the genotype of pregnant woman was identified as DVI type 3; the MLPA analysis showed that this pregnant women owned only one RHD allele with 3rd to 6th exons missed, and her genotype was identified as CDe/cde; her spouse was identified as CDe/CDe homozygous genotype, and her daughter as CDe/CDe.</p><p><b>CONCLUSION</b>Accurate identification of RhD blood type is of great significance for a safe and effective clinical blood transfusion strategy, and for taking appropriate measures to prevent hemolytic disease of newborn (HDN) at women childbearing age.</p>

Serological and genetic study of a pedigree featuring a rare p phenotype / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore genetic background of a pedigree with a rare p phenotype from Guangdong province.</p><p><b>METHODS</b>The rare p phenotype was identified by a conventional serologic method. With genomic DNA of proband and family members extracted, exon 3 of alpha-(1,4)galactosyltransferase (A4GALT) gene was amplified with PCR and analyzed by direct sequencing. The mutation found in the pedigree was screened in a normal population using direct sequencing.</p><p><b>RESULTS</b>The proband and 4 family members with the rare p phenotype have all carried a point mutation c.100G>A (p.Val34Ile) in combination with a deletion-insertional mutation c.418_428del11ins34(p.Gln139Trpfs*72), which renders a compound mutation of A4GALT gene. One family member with P2 phenotype has carried a same heterozygous mutation. Of the 100 healthy donors, 5 have carried a heterozygous point mutation c.100G>A, and none carried the deletion-insertional mutation c.418_428del11ins34.</p><p><b>CONCLUSION</b>The rare p phenotype of the pedigree has resulted from a compound mutation of the A4GALT gene, which is in keeping with a recessive inheritance pattern of the p phenotype.</p>

Effect of antisense oligonucleotide against telomerase in rat spermatogonia and its reactivity to cytokine / 中华男科学杂志

<p><b>OBJECTIVES</b>To study the change of telomerase activity in rat spermatogonia when the telomerase RNA was enclosed, and reactivity of the change to cytokine(SCF, TGF-beta 1).</p><p><b>METHODS</b>The antisense oligonucleotides(PS-ASON) of telomerase was transfected into proliferating spermatogonia in vitro with the liposomes as the vector. Then the cytokine, stem cell factor (SCF) or transforming growth factor-beta 1(TGF-beta 1), was added. The proliferative activity of the spermatogonia was determined before and after the inhibition by MTT [3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide]assay. The change of telomerase activity was detected by telomeric repeat amplification protocol (TRAP).</p><p><b>RESULTS</b>1 mumol/L PS-ASON obviously downregulated the telomerase activity and inhibited spermatogonia proliferation. When the inhibition was over, the activity recovered to some extent(P < 0.01). Growth factors can regulate the spermatogonia after inhibition, SCF may improve the activity of telomerase and the proliferation of spermatogonia. Adversely, TGF-beta 1 may inhibit the recovery of telomerase activity.</p><p><b>CONCLUSIONS</b>To inhibit spermatogonia telomerase activity antisensely can limit the proliferation of spermatogonia efficiently, which was regulated by cytokine. This method might be a new and efficient way in male birth control.</p>