Erythropoietic protoporphyria （EPP） is a rare inherited metabolic disease that often involves skin， blood， and nervous systems， and EPP with the main manifestations of severe liver damage and acute abdominal pain is extremely rare. By reviewing the clinical data and genetic testing results of a patient with EPP， this article discusses the clinical features and pathogenic genes of this disease， in order to improve the understanding of the disease among hepatologists and achieve early diagnosis and treatment.

Humans ; Hematopoietic Stem Cell Transplantation ; Multiple Myeloma/therapy* ; Transplantation, Autologous ; Retrospective Studies ; Combined Modality Therapy ; Stem Cell Transplantation/adverse effects*

Objective:To analyze the impact of intrauterine infusion of autologous peripheral blood mononuclear cells (PBMCs) and enriched platelet plasma (PRP) on pregnancy outcomes in patients with recurrent implantation failure (RIF).Methods:A total of 96 patients with repeated implantation failures who underwent frozen embryo cycles at Hunan Provincial Maternal and Child Health Care Hospital from March 2021 to June 2023 were selected and randomly divided into a control group (19 cases), PBMCs group (31 cases), and PRP group (46 cases). The control group did not receive uterine cavity infusion treatment; Intrauterine perfusion of PBMCs in the PBMCs group; The uterine cavity of the PRP group was infused with PRP. We compared the general situation, endometrial thickness on the day of conversion, endometrial thickness on the day of transplantation, embryo implantation rate, and clinical pregnancy rate among three groups.Results:There was no statistically significant difference in age, body mass index (BMI), years of infertility, menstrual cycle, serum basal follicle stimulating hormone (FSH), basal estradiol (E 2), number of transfer cycles, number of transferred embryos, and number of high-quality embryos among the three groups (all P>0.05). There was no statistically significant difference in endometrial thickness on the conversion day among the control group, PRP group, and PBMCs group (all P>0.05). The endometrial thickness on the day of transplantation in the PRP group was greater than that in the control group and PBMCs group (all P<0.05), and there was no statistically significant difference in endometrial thickness on the day of transplantation between the control group and PBMCs group (all P>0.05). The embryo implantation rate and clinical pregnancy rate of the PRP group and PBMCs group were higher than those of the control group, and the difference was statistically significant (all P<0.05). There was no statistically significant difference in embryo implantation rate and clinical pregnancy rate between the PRP group and the PBMCs group (all P>0.05). The patients did not experience any adverse reactions such as infection, abdominal pain, or vaginal bleeding during intrauterine infusion therapy. Conclusions:Infusing autologous PBMCs or PRP into the uterine cavity before re embryo transfer in RIF patients can significantly improve embryo implantation rate and clinical pregnancy rate, and can improve assisted pregnancy outcomes; Intrauterine infusion of autologous PRP has no significant advantage over PBMCs in improving clinical pregnancy outcomes in patients with RIF; But it is more beneficial for improving the thickness of the endometrium.

Objective:To investigate the relationship between the polymorphisms of two SNP loci (rs901823 and rs3736228) in the low density lipoprotein receptor-associated protein 5 (LRP5) gene and glucocorticoids-induced osteoporosis (GIOP) in children.Methods:87 children with GIOP who were treated in Beijing Aiyuhua Women’s and Children’s Hospital and Beijing Children’s Hospital affiliated to Capital Medical University from Jan. 2015 to Dec. 2020 were selected as the research objects, and 100 children with normal bone mass who were treated with corticosteroids in this hospital during the same period were enrolled as the control group. Capillary electrophoresis and fragment analysis (SNaPshot) technology were used to genotype SNP sites rs901823 (T>C) and rs3736228 (C>T) ; Quantitative real-time fluorescence quantitative polymerase chain reaction detection method was employed to determine the relative mRNA of LPR5 gene The amount of expression.Results:For the rs901823 locus of the LRP5 gene, the TT, TC, and CC genotype distribution differences between the GIOP group and the control group were statistically significant ( χ2=14.176, P=0.001) . Compared with the TT genotype, carriers of the TC and CC genotypes had a higher risk of GIOP, with OR values of 3.022 (1.189-6.387) and 5.483 (1.452-20.883) ; For academic significance, OR values were 3.412 (1.795-6.587) and 4.352 (1.215-15.982) . For the rs3736228 locus, the distribution of CC, CT, TT genotypes between the GIOP group and the control group was significantly different ( χ2=9.597, P=0.008) . Compared with CC carriers, CT genotype carriers had a significantly increased risk of GIOP, with an OR value of 5.125 (1.721-16.241) . The result of a dominant model was statistically significant, with an OR value of 4.165 (1.335-14.652) , while for TT there was no statistically significant difference between the carrier and the CC genotype ( P=0.512) , and the results of the recessive model also showed no significant statistical significance ( P=0.887) . There was a statistically significant difference in the frequency distribution of T and C alleles at rs901823 between the GIOP group and the control group ( χ2=17.298, P<0.001) , and the difference in the frequency distribution of C and T alleles at rs3736228 was also statistically significant ( χ2=9.356, P=0.002) . The relative expression level of LRP5 gene mRNA in children with GIOP was 1.34±0.26, which was significantly lower than the expression level of LRP5 gene mRNA in children in the control group of 3.06±0.42 ( t=8.248, P<0.001) . Among children with GIOP, the relative expression of LRP5 gene mRNA in patients with rs901823 locus TT, TC, and CC genotypes was statistically significant ( P<0.001) ; the differences in rs901823 locus CC, CT, TT genotype patients were significant. Pairwise comparison of the relative expression of LRP5 gene mRNA showed that there was no significant difference between the TT group and the CT group ( P>0.05) , but the expression of the CC group was significantly higher than that of the CT group and the TT group ( P<0.05) . Conclusion:The rs901823 and rs3736228 polymorphisms of LRP5 gene are correlated with the occurrence of GIOP and can be used as genetic markers for predicting GIOP in children.

Objective: To clarify the genotype of varicella-zoster virus (VZV) in Jilin province in 2017, and to discriminate between vaccine strain and wild-type strain. Methods: Vesicle fluid and throat swab samples were collected from 10 individuals with suspected VZV in Jilin province from January to March of 2017. Real-time fluorescent quantitative PCR was used to detect viral nucleic acid. Specific regions of ORF22, ORF38 and ORF62 of VZV were amplified by PCR. Viral genotype was determined by five SNPs of ORF 22 and vaccine strain or wild-type strain was distinguished by four SNPs of ORF 38 and ORF 62. The results were analyzed with MEGA5 and BioEdit software, using the VZV reference strain sequences from GenBank. Results: VZV-positive strains were detected in 10 samples, all belonged to Clade 2. There was a synonymous mutation (C→T) in position 38 048 of JL17-7 strain. The nucleotide homology of ORF22 showed that all 10 samples were on the same branch with the Clade 2 referenced strains. Compared with Clade 2 referenced strains, the homology of nucleotide and amino acid for all 10 samples were 99.5%-100% and 99.3%-100%, respectively. The four specific SNPs of ORF38 and ORF62 in 10 samples were A-T-T-T, which were consistent with wild-type strain. Conclusions This study reveals that the VZV strains circulating in Jilin province in 2017 were all wild-type strains belonging to Clade 2.

Objective: To explore the effect of the practice of healthy gymnastics by pregnant woman on the outcome of their primipara delivery. Methods: A total of 260 primiparas with no contraindications of vaginal delivery were selected from February 2016 to May 2017 from our hospital. None of the women had any family history of mental illness or miscarriage, and their prenatal body mass index (BMI) was normal with no complications during pregnancy. According to their choice (to practice gymnastics or not), 130 women who did not do gymnastics were assigned to the control group, and 130 women who practiced gymnastics were assigned to the observation group. The control group had routine examinations and health care check-up during pregnancy, while the observation group practiced gymnastics from the 28^th week until delivery. Delivery modes, perineal lacerations, bodyweight gain, delivery BMI, and macrosomia incidence of the two groups were compared. Delivery modes and perineal lacerations were compared with χ² test, and bodyweight gain, delivery BMI, and macrosomia incidence, were compared with t-tests between the two groups. Results: In the control group, there were 79 women (63.7%) with vaginal delivery (natural delivery with midwifery delivery) and 36 caesarean deliveries for medical factors (29%); in the observation group, there were 99 vaginal deliveries (79.2%) and 22 caesarean deliveries for medical factors (17.6%). The percentage of natural delivery was higher (χ²=7.214) while the percentage of cesarean deliveries for medical factors was lower in the observation group (χ²=4.553); the differences were statistically significant (P<0.05). In the control group, there were 79 perineal lacerations, of which 4 were grade Ⅰ (5.1%), 52 were grade Ⅱ (65.8%), and 23 had a perineal side incision (29.1%); in the observation group, there were 99 perineal lacerations, of which 33 were grade Ⅰ (33.3%), 50 were grade Ⅱ (50.5%), and 16 had a perineal side incision (16.2%). Grade Ⅰ perineal lacerations in the observation group were significantly higher than that in the control group (χ²=21.326), and the rate of perineal side incision was lower in the observation group than in the control group (χ²=4.308); the differences were statistically significant (P < 0.05). In the control group, bodyweight gain during pregnancy was (15.9±7.2) kg, delivery BMI was (27.2±3.7) kg/m², and there were 10 incidents of macrosomia (8.1%); in the observation group, bodyweight gain during pregnancy was (13.6±10.6) kg, delivery BMI was (25.5±3.2) kg/m², and there were 3 incidents of macrosomia (2.4%). Bodyweight gain during pregnancy, delivery BMI, and the incidence of macrosomia were lower in the observation group than in the control group (t=-2.001, t=-3.879 and χ²=4.036, respectively); the differences were statistically significant (P < 0.05). Conclusion Pregnant woman who practice healthy gymnastics can gain reasonable bodyweight during pregnancy, control delivery BMI, have higher probability of having a natural delivery, and reduce perineal lacerations and the incidence of macrosomia. Therefore, it could be worthy of popularizing healthy gymnastics as part of routine health care.

Objective To investigate the curative effect and mechanism of α lipoic acid combined with epalrestat and methylcobalamin in patients with type 2 diabetes mellitus (T2DM) complicated with pe-ripheral neuropathy ( DPN) . Methods A total of 160 cases of patients with DPN were randomly divided into the control group ( treated with methylcobalamin and epalrestat) and the observation group ( treated with methylcobalamin, epalrestat and α lipoic acid) , and all patients were treated for 4 weeks. The therapeutic effect, nerve conduction velocity, oxidative stress index and related proteins expression in serum were ob-served in two groups. Results The effective rate of treatment in the observation group was higher than that in the control group (87. 50％ vs 75. 0％) (χ2 = 4. 103,P<0. 05). After treatment, the sensory nerve conduction velocity ( SNCV) and motor nerve conduction velocity ( MNCV) of median nerve and common peroneal nerve were significantly better in the observation group than the control group ( P<0. 05 ) . After treatment, the level of superoxide dismutase ( SOD) was significantly higher in the observation group than the control group, while the level of malondialdehyde ( MDA ) was significantly lower the control group (P<0. 05). After treatment, the level of Bcl-2 protein was significantly higher in observation group than the control group, while the levels of Bax and Caspase-3 proteins were significantly lower than the control group (P<0. 05). Conclusions The application ofαlipoic acid combined to epalrestat and methylcobal-amin in the treatment of DPN can significantly improve the sensory and motor nerve conduction.

Objective To clarify the genotype of wild-type strains of varicella zoster virus (VZV) in Jilin province in 2014,and to discriminate between v-Oka vaccine strains and wild-type strains.Methods Vesicle fluid and throat swab samples were collected from 13 individuals with suspected VZV in Jilin province from January to December 2014.Viral DNA was extracted,the fragments of 15 open reading fragments (ORFs) were amplified by polymerase chain reaction (PCR),and viral genotypes were determined by single nucleotide polymorphisms (SNP).PCR restriction fragment length polymorphism (RFLP) was used to distinguish between wild-type strains and v-Oka vaccine strains.The results were analyzed with MEGA5 software,using the VZV reference strain sequences from GenBank.Results The 13 suspected samples included 5 males and 8 females,aged 11-27 years (mean:(16.69±5.48) years).Sampling was performed on days 0 to 3 of suspected infection.VZV strains were detected in 8 samples,all belonging to Clade 2.There was a synonymous mutation (T＞C) in SNP18082 compared with the v-Oka vaccine strain.Analysis of PCR-RFLPs showed that all 8 positive samples were wild-type strains (Pst Ⅰ +Bgl Ⅰ +Sma Ⅰ-).Conclusions The study revealed that the VZV strains circulating in Jilin province in 2014 were wild-type strains belonging to Clade 2.

Objective To clarify the genotype of wild-type strains of varicella zoster virus (VZV) in Jilin province in 2014,and to discriminate between v-Oka vaccine strains and wild-type strains.Methods Vesicle fluid and throat swab samples were collected from 13 individuals with suspected VZV in Jilin province from January to December 2014.Viral DNA was extracted,the fragments of 15 open reading fragments (ORFs) were amplified by polymerase chain reaction (PCR),and viral genotypes were determined by single nucleotide polymorphisms (SNP).PCR restriction fragment length polymorphism (RFLP) was used to distinguish between wild-type strains and v-Oka vaccine strains.The results were analyzed with MEGA5 software,using the VZV reference strain sequences from GenBank.Results The 13 suspected samples included 5 males and 8 females,aged 11-27 years (mean:(16.69±5.48) years).Sampling was performed on days 0 to 3 of suspected infection.VZV strains were detected in 8 samples,all belonging to Clade 2.There was a synonymous mutation (T＞C) in SNP18082 compared with the v-Oka vaccine strain.Analysis of PCR-RFLPs showed that all 8 positive samples were wild-type strains (Pst Ⅰ +Bgl Ⅰ +Sma Ⅰ-).Conclusions The study revealed that the VZV strains circulating in Jilin province in 2014 were wild-type strains belonging to Clade 2.