OBJECTIVE: To determine the carrier rate for thalassemia mutations in the ethnic Miao population of Qianxinan Prefecture. METHODS: Ethnic Miao people suspected for thalassemia trait at the People's Hospital of Qianxinan Prefecture, Guizhou Province between November 2020 to September 2024 were selected as the study subjects. Gap-PCR technology combined with high-throughput sequencing was used to screen a total of 666 individuals. ArcMap v10.8.2 was used to create a spatial distribution map of thalassemia based on the screening results. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2016-01). RESULTS: In total 254 positive cases were detected, with an overall positive rate of 38.14%. Among these, 173 cases were α-thalassemia (25.98%), 77 cases were β-thalassemia (11.56%), and 4 cases were αβ compound thalassemia (0.60%). The most common genotypes for α-thalassemia were αα/--^SEA (positive rate = 10.06%, accounting for 38.73%), αα/-α^3.7 (positive rate = 8.86%, accounting for 34.10%), and α^CSα/αα (positive rate = 4.95%, accounting for 19.08%). The most common genotypes for β-thalassemia were β^41/42(-TTCT)/β^A (positive rate = 5.11%, accounting for 44.16%) and β^{17 (A>T)}/β^A(positive rate = 4.20%, accounting for 36.36%), with these two genotypes accounting for as much as 80.52%. The spatial distribution map indicated that the highest overall detection rate of thalassemia and α-thalassemia in the Miao population of Qianxinan Prefecture was in Xingyi City. The highest detection rate of β-thalassemia was in Zhenfeng County, and the highest detection rate of αβ compound thalassemia was in Wangmo County. CONCLUSION The detection rate of thalassemia among the ethnic Miaos from Qianxinan Prefecture is relatively high, which primarily consisted of α-thalassemia. Regular monitoring and educational outreach should be conducted.
Humans ; China/ethnology* ; Female ; Male ; Genetic Testing ; Adult ; alpha-Thalassemia/genetics* ; Thalassemia/ethnology* ; Ethnicity/genetics* ; Genotype ; beta-Thalassemia/ethnology* ; Adolescent ; Mutation ; Middle Aged ; Child ; Asian People/genetics* ; Young Adult

Objective:To analyze the thalassemia screening and genotyping in Southwest Guizhou Autonomous Prefecture (referred it as Qianxinan Prefecture), this essay provides the theoretical reference for clinical diagnosis of thalassemia and suspicious cases.Methods:The pregnant women, spouses and neonates who were screened for thalassemia gene in Qian Xi Nan People's Hospital from January 2016 to December 2020 were selected as the research subjects, and peripheral blood or umbilical cord blood samples were collected to extract DNA. The gap-polymerase chain reaction (Gap-PCR) and next-generation sequencing (NGS) technology were used to screen thalassemia, and ArcMap 10.8 software was adopted to map the local spatial distribution of thalassemia based on the screening data.Results:A total of 67 185 cases of people from various regions in Qianxinan Prefecture were screened, and 8 202 cases of thalassemia gene carriers were detected, with a total detection rate of 12.21%. Among them, 5 660 cases of α-thalassemia, with a detection rate of 8.42%; 2 132 cases of β-thalassemia, with a detection rate of 3.17%; 410 cases of αβ complex thalassemia, with a detection rate of 0.61%. In the detection of thalassemia genes, 27 genotypes of α-thalassemia were detected, mainly αα/-α 3.7, accounting for 41.13% (2 328/5 660); 33 genotypes of β-thalassemia were detected, mainly β CD17(A>T)/β A, accounting for 44.09% (940/2 132); 55 genotypes of αβ complex thalassemia were detected, and αα/-α 3.7 complexed β CD17(A>T)/β A dominated, accounting for 21.22% (87/410). There were high incidence areas in the spatial distribution of thalassemia, which were Wangmo County and Ceheng County, and the detection rate was 26.76% (1 438/5 374), 24.39% (1 314/5 387), respectively. Conclusions:The detection rate of thalassemia gene in Qianxinan Prefecture is relatively high, mainly αα/-α 3.7 genotype of α-thalassemia. Wangmo County and Ceheng County are high-incidence areas of thalassemia, and screening efforts should be continued.

Objective: To analyze the application of difficulty degree index (DDI) in predicting patients′s fertility outcome after laparoscopic myomectomy. Methods: A retrospective study was carried out on 118 patients with subserous myoma or intramural myoma undergoing laparoscopic myomectomy from January 2005 to December 2014. The rate of post-operative pregnancy, delivery outcome and disease recurrence were investigated. Logistic regression analysis was used to analyze the impact of DDI, the age of patients undergoing surgery, presence of infertility history etc, on the patients′ reproductive outcome following the surgery. Results: Follow-up for 1 to 10 years,118 cases were included in the study, the rate of post-operative pregnancy, live birth, vaginal delivery were 72.9% (86/118) , 52.5% (62/118) and 24.2% (15/62) respectively. No cases of uterine rupture and obstetric complications occurred. Univariate analysis showed that the independent variables of post-operative pregnancy rate were DDI, patient′s age at the time of surgery, presence of infertility history and myoma recurrence (all P<0.05) . In multivariate analysis, the factors of post-operative pregnancy rate were DDI (OR=3.131, 95%CI:1.012-8.894) , patient′s age at the time of surgery (OR=2.722, 95%CI:1.048-7.067) and presence of infertility history (OR=8.509, 95%CI: 2.102-34.445) . Conclusions DDI could be applied to predict post-operative pregnancy rate, with the increasing of DDI the post-operative pregnancy rate decreasing. The patients with high DDI scores, age>35 years old or presence of infertility history should get ready for pregnancy positively.

Objective To investigate the effects of somatostatin combined with omeprazole in treatment of digestive tract hemorrhage and the intervention effect in cirrhosis. Methods According to the different treatment methods will be January 2015 to January 2017 in Taizhou Hospital treatment of gastrointestinal bleeding in patients with cirrhosis 80 cases groups: control group was treated with omeprazole and omeprazole and somatostatin in the treatment of observation group; two groups were recorded in the experimental data, and the data were analyzed, the effect of somatostatin combined with omeprazole in treatment of digestive tract hemorrhage and the intervention effect in patients with liver cirrhosis. Results The observation group clinical treatment effect is better than that of control group clinical treatment groups was statistically significant the difference between (P< 0.05). Conclusion The bleeding patients choose somatostatin omeprazole treatment effect on liver cirrhosis digestive adverse little response.

Objective To provide nutritional supportive scheme for patients with radiation injury through the treatment of the one exposed to Nanjing 192Ir source accident.Methods The reasonable nutrition treatment scheme was made on the basis of dietary survey and nutritional index monitoring during clinical stages of the patient,including body weight,body mass index(BMI),biochemical indexes,electrolyte,etc.,as well as metabolic cart determination of resting energy expenditure (REE).Results Patient on admission (days 5 post-irradiated) weighing 42.5 kg,172 days after the first irradiated (the first skin grafting) fell to a minimum of 36 kg,then gradually rise,hen rose back to normal range on days 383 before discharge.Normal admission hemoglobin was 135 g/L,172 d after irradiated to a minimum of 54 g/L,normal discharge;when lymphocytes admission low as 0.5 × 109/L,58 days back to normal after exposure,172 days after irradiated down to 0.4 × 109/L.Serum albumin was normal admission 41.2 g/L,172 days after irradiated down to 25.3 g/L.The normal level of serum prealbumin was 0.22 g/L,248 days to a minimum of 0.04 g/L,the basic return to normal at discharge was 0.17 g/L.Admission normal liver function,bilirubin index slightly higher,the all in one parenteral nutrition after about 2.5 months later,bilirubin and liver function indicators were gradually increased,the adjusted treatment and nutrition liver and gallbladder and other gradually returned to normal after treatment.REE and the body weight were determined by metabolic cart on days 294,308 and 342 for the energy requirements.Conclusions For patient with radiation injury,appropriate nutrition therapy is a key method for the clinical treatment and rehabilitation,which can maintain the nutritional status of patients and improve clinical treatment.

Objective To investigate the correlation between serum adiponectin level and severity of coronary artery disease.Methods We measured the serum concentrations of adiponectin in 135 patients whom had received CAG.The severity of coronary artery lesion was evaluated by Gensini score,the number of stenosis vessel and clinical manifestation.Results The serum concentrations of adiponectin in Gensini score 0 group(74.53?30.76 ng/mL)and score 40 group(28.96?11.87 ng/mL)(P40 group were lower than those in score 20-40 group(P