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OBJECTIVE@#To investigate the types and frequencies of thalassemia genes carried by the pregnant women in Guilin, Guangxi Zhuang Autonomous Region, China.@*METHODS@#From January 2015 to December 2019, blood samples of the pregnant women who visited the Outpatients of Obstetrics clinic and Eugenics Genetic clinic in Affiliated Hospital of Guilin Medical University were collected. Gap-PCR was used to detect deletional α-thalassemia, PCR-RDB to detect the gene mutations of non-deletional α-thalassemia and β-thalassemia, and MLPA or DNA sequencing to detect rare thalassemia mutations. Different types and frequencies of thalassemia mutations carried by pregnant women were analyzed statistically.@*RESULTS@#A total of 19 482 blood samples were collected, including 3 801 thalassemia gene carriers (19.51%). Seven types of α-thalassemia gene mutation were detected with a carrier rate of 15.43%. Among them, --@*CONCLUSION@#Guilin is a high-risk area for thalassemia. Alpha-thalassemia is dominated by --
Subject(s)
Female , Humans , Pregnancy , China , Genotype , Heterozygote , Pregnant Women , alpha-Thalassemia/geneticsABSTRACT
Rehabilitation can play an important role in the multidisciplinary management of corona virus disease 2019 (COVID-19). After a brief introduction of the epidemiology, clinical characteristics, diagnosis and treatment of the disease, this article discussed the use of physical agents, respiratory rehabilitation, intensive care rehabilitation, activities of daily living training, psychological intervention, home rehabilitation and rehabilitation of Traditional Chinese Medicine in the management of COVID-19.
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@#【Objective】 To study the mechanisms and therapeutic effects of human olfactory mucosa-derived mesenchymal stem cells（OMSC）on experimental autoimmune encephalomyelitis（EAE）in mice.【Methods】Under local anesthesia by using nasal endoscopy，olfactory epithelia of healthy donors were obtained，digested and cultured up to the 5th passage. OMSC were identified，differentiated and stained. EAE models were induced in C57 female mice by myelin oligodendrocyte glycoprotein（MOG35- 55）and pertussis toxin（PT）. Neurological function was documented daily. On day 16 after immunization（peak of incidence），the mice were divided randomly into two groups and treated with OMSC and PBS via tail vein injection respectively. On day 24 after immunization ，blood was collected from angular vein and levels of IL-10，IL-17，IFN-γ and IL-6 were determined by cytometric beads array（CBA）. The size of the spinal cord lesion in mice was observed and measured by using HE and LFB staining. Peripheral blood lymphocytes（PBL）of healthy donors were obtained and then co-cultured with OMSC. The proportions of CD4+ T cells secreting IFN- γ（Th1 cells）in lymphocyte group and co-culture group were compared after 2 days of cultivation. Adding IDO or COX pathway inhibitor to co- culture group and cultivating for 2 days，we observed and compared the proportions of Th1 cells in lymphocyte group，co-culture group and inhibitor treatment group respectively.【Results】OMSC exhibited certain mesenchymal stem cell-like characteristics with respect to expression of stem cell surface markers and multilineage differentiation potentials. After induced by MOG35- 55 and PT，EAE models showed different levels of neurological damage. Compared with those in PBS treatment group，in OMSC treatment group，the severity of neural dysfunction in mice was significantly reduced（P =0.002），the level of IFN-γ in serum was lower（P = 0.032），but no significant differences in the levels of IL-10，IL-17 and IL-6 were found between two groups. HE and LFB staining revealed that the inflammatory infiltration and demyelinating areas in OMSC treatment group were less than those in PBS treatment group. The proportion of Th1 cells was lower in co-culture group than that in lymphocyte group（P = 0.001），higher in IDO inhibitor group than that in co-culture group（P = 0.01），but no significant difference was found between IDO inhibitor group and lymphocyte group or between COX inhibitor group and co-culture group.【Conclusions】OMSC may regulate the proportion of Th1 lymphocytes through IDO pathway so as to inhibit the demyelinating injuries of EAE in mice. This study provides a new idea for the clinical treatment of multiple sclerosis.
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@#【Objective】To study the effect of mesenchymal stem cells（MSC）on proliferation and immunomodulation of B cells in vitro.【Methods】Bone marrow 30 mL from healthy donors was isolated by density gradient centrifugation. Isolated MSC were cultivated adherently with L- DMEM medium containing 10% fetal bovine serum（FBS）. Phenotype and differentiation capacity of MSC was detected after the sixth passage. Peripheral blood mononuclear cells（PBMC）of healthy donors were also obtained by density gradient centrifugation. CD19+ B cells were sorted by fluorescence activated and co-cultured with MSC（CD19+ B∶MSC = 5∶1）group. Stimulated by CpG+ CD40L，the proliferation of B cells of two groups were checked 96 hours after co-culture respectively. The CD19+CD5+ B cells percentage and its secretion of IL-10 were detected by FACS. The effects of CD19+ B cells on the proliferation of CD4+ T cells and the secretion of IFN-γ were continually observed. Anti-IL-10 was used to confirm the effect of B cells on proliferation and IFN-γ secretion of CD4+ T cells.【Results】MSC collected from healthy donors remained differentiation capacity. MSC derived from bone marrow expressed CD29，CD44，CD73，CD90，CD105，and CD166，but did not express CD45 and CD34. Compared with control group，the proportion of CD19+ B cells proliferation in co-cultured group was significantly increased after 3 days，meanwhile，the level of IFN-γ，which secreted by CD4+ T cells was significantly restrained. To make a further analysis of the subsets of CD19+ B cells，the percentage of CD5+ B cells in co-cultured group increased from（21.31±1.22）% to（31.27±0.92）%（P=0.014），and its IL-10 secretion increased from（1.09±0.08）% to（2.44±0.06）%（P<0.001）compared with control group. After anti-IL-10 was used，the B cells co-cultured with MSC showed a decreased capacity of inhibiting the proliferation and IFN-γ secretion of CD4+ T cells.【Conclusions】MSC could promote the proliferation of CD19+ B cells to inhibit the secretion of IFN-γ by CD4+ T cells，which may be related to the increasing expression of IL-10 by CD19+CD5+B cells.
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<p><b>OBJECTIVE</b>To study the characteristics of genotype spectrum and hematologic parameters in children with HbH disease in the North Guangxi region.</p><p><b>METHODS</b>HbH disease was identified by clinical manifestations, routine blood tests and hemoglobin electrophoresis in 166 children who came form the North Guangxi region. Genotypes were determined by Multi-PCR combined with PCR reverse dot blot. DNA sequencing was used when the genotype could not be identified by regular methods.</p><p><b>RESULTS</b>Of the 166 children with HbH disease, 8 genotypes were identified: --SEA/-α3.7 (82 cases), --SEA/-α4.2 (40 cases), --SEA/αCSα (38 cases), --SEA/αQSα (1 case), --SEA/αWSα (1 case), --SEA/αCD43/44 (-C) α (1 case), --SEA/-α3.7 plus CD17 (A→T) (1 case) and --SEA/-α4.2 plus CD41-42(-TTCT) (1 case). One case was confirmed as the heterozygote of --SEA and an unknown mutation. In the 134 cases with complete medical data, 2 had normal hemoglobin levels, 36 manifested mild anemia, 90 manifested moderate anemia, and 6 (genotype: --SEA/αCSα) showed severe anemia because of the coexistence of infection. Children with the genotype of --SEA/-α3.7 (69 cases), --SEA/-α4.2 (31 cases) and --SEA/αCSα (34 cases) had hemoglobin levels of 62-120, 69-127 and 34-110 g/L respectively. The hemoglobin level in the --SEA/αCSα group was significantly lower than in the deletional HbH disease group (genotypes: --SEA/-α3.7 and --SEA/-α4.2 ) (P<0.05). In contrast, MCV levels in the --SEA/αCSα group were significantly higher than in the deletional HbH disease group (P<0.05).</p><p><b>CONCLUSIONS</b>The genotype spectrum of HbH disease is diverse in the North Guangxi region. Deletional genotype is prevalent. The disease is heterogeneous. The children with --SEA/αCSα HbH disease have severer anemia and higher MCV levels than those with deletional HbH disease.</p>