Objective:To analyze the positive detection rate, main genotypes of β-thalassemia in western region of Guangxi Zhuang Autonomous Region (referred to as Guangxi).Methods:Retrospective analysis of 26 189 individuals who underwent gene testing for thalassemia at the Affiliated Hospital of Youjiang Medical University for Nationalities from January 2013 to December 2019. Using the crossing breakpoint PCR (Gap-PCR) and reverse dot blot (RDB) techniques to detect Chinese common type of 7 kinds of α-thalassemia and 17 kinds of β-thalassemia genotypes, high-throughput sequencing(Sanger) was performed for suspected rare β-thalassemia. Gap-PCR was used for suspected deletion β-thalassemia types.Results:β-thalassemia was diagnosed in 4 495 (17.16%) of 26 189 samples. A total of 6 177 alleles of 20 types of β-thalassemia were detected, mainly CD17 (2 712 cases, 43.90%) and CD41-42 (2 240 cases, 36.26%), including 7 rare alleles: Gγ +( Aγδβ) 0, SEA-HPFH, Hb New York, Hb G-Taipei, Hb Hezhou, Hb G-Coushatta and IVS-Ⅱ-81. There were 3 903 case (86.83%) heterozygous, 273 case (6.07%) double heterozygous, and 319 case (7.10%) homozygous among 4 495 β-thalassaemia subjects. A total of 48 genotypes were detected. The two most common genotypes were CD17/β N (1 890 cases, 42.05%) and CD41-42/β N (1 212 cases, 26.96%), accounted for 69.01% (3 102/4 495). Seven rare genotypes were detected: Gγ +( Aγδβ) 0/β N in 3 cases, Hb New York/β N in 3 cases, Hb G-Taipei/β N in 2 cases, SEA-HPFH/β N, Hb Hezhou/β N, Hb G-Coushatta/β N and IVS-Ⅱ-81/β N in 1 case each. A total of 1 041 cases (3.97%, 1 041/26 189) of 116 types of αβ-thalassemia were detected, mainly -- SEA/αα composite CD17/β N (144 cases, 13.83%), followed by -α 3.7/αα composite CD17/β N (112 cases, 10.76%). Conclusions:Western region of Guangxi is a high prevalence area of β-thalassemia, CD17/β N and CD41-42/β N are the main genotypes. The variation spectrum of β-thalassemia is complex and diverse, with rich genotype.

Objective:To analyze the drug-resistant gene loci of Mycoplasma pneumoniae (MP) using metagenomic next-generation sequencing (mNGS). Methods:From November 2022 to October 2023, 697 clinical samples (including sputum, alveolar lavage fluid and blood) of 686 children with Mycoplasma pneumoniae positive detected by mNGS were retrospectively analyzed. Samples were divided into intensive care unit (ICU) group and non-ICU group, Chi-square test was used to compare groups, and Mann-Kendall trend test was used to analyze the change trend of the detection rate of drug resistance gene loci over time. Results:Of the 697 samples, 164 were from the ICU group and 533 were from the non-ICU group. The detection rate of Mycoplasma pneumoniae resistance gene was 44.3% (309/697), and all detected drug-resistant gene loci of MP were A2063G. The detection rate of Mycoplasma pneumoniae in ICU group was 50.0% (82/164), and the detection rates of Mycoplasma pneumoniae resistance gene loci in sputum, alveolus lavage fluid and blood samples were 75.0% (18/24) and 48.4% (62/128), respectively. The detection rate in sputum was higher than alveolus lavage fluid samples ( χ2=5.72, P=0.017). The detection rate of Mycoplasma pneumoniae in non-ICU group was 42.6% (227/533), the detection rate of Mycoplasma pneumoniae resistance gene loci in sputum and alveolar lavage fluid was 40.0% (16/40), 44.3% (201/454), and no detection rate in blood samples (0/12). There was no significant difference in the detection rate of alveolar lavage fluid and sputum ( χ2=0.27, P=0.602). From November 2022 to October 2023, the detection rate of submitted samples showed an increasing trend month by month (overall: Z=3.99, ICU inspection group: Z=2.93, non-ICU group: Z=3.01, all P<0.01). Among the bacteria commonly detected with Mycoplasma pneumoniae, Streptococcus pneumoniae accounted for the highest proportion, the detection rate was 15.5% (108/697), and Epstein-Barr virus accounted for the highest proportion of 17.6% (123/697). Conclusions:From November 2022 to October 2023, the detection rate of Mycoplasma pneumoniae drug resistance gene loci showed an increasing trend. The detection rate of drug resistance gene loci in sputum samples of ICU group was higher than alveolus lavage fluid. No new drug resistance site were detected.

Objective:To investigate the effects of cardiac exercise rehabilitation on heart failure with preserved ejection fraction.Methods:200 patients with clinically diagnosed heart failure with preserved ejection fraction who received treatment from May to December 2019 were included in this study. They were randomly assigned to receive either routine treatment (control group, n = 100) or routine treatment combined with cardiac exercise rehabilitation (observation group, n = 100). Before and after treatment, the distance walked during the 6-minute walk test was compared between the control and observation groups. Before and after treatment, plasma level of brain natriuretic peptide, left ventricular ejection fraction, left ventricular short-axis fractional shortening, left atrial diameter, left ventricular end diastolic diameter were compared between the two groups. Adverse events such as falls during treatment were recorded in each group. Before and after treatment, quality of life was evaluated using The Minnesota Living With Heart Failure Questionnaire in each group. All patients were followed up for 3 months. Three-month rehospitalization rate was calculated in each group. Results:After treatment, the distance walked during the 6-minute walk test in the observation group was significantly longer than that in the control group [(421.63 ± 86.75) m vs. (328.44 ± 74.93) m, t = 8.130, P < 0.001). After treatment, the distance walked during the 6-minute walk test in each group was significantly increased compared with before treatment ( tcontrol group = 6.584, P < 0.001; tobservation group = 15.337, P < 0.001). After treatment, plasma level of brain natriuretic peptide in the observation group was significantly lower than that in the control group [(227.68 ± 31.22) mg/L vs. (269.74 ± 36.81) mg/L, t = 8.714, P < 0.001]. After treatment, plasma level of brain natriuretic peptide in each group was significantly decreased compared with before treatment ( tcontrol group = 24.669, P < 0.001; tobservation group = 38.776, P < 0.001). After treatment, left ventricular end diastolic diameter and left atrial diameter in each group were significantly decreased compared with before treatment ( t = 4.031, 10.166, 3.715 and 12.569, all P < 0.05), while left ventricular ejection fraction and left ventricular short-axis fractional shortening in each group were significantly increased compared with before treatment ( t = 7.610, 11.906, 3.915 and 6.105, all P < 0.05). The amplitude of improvement in abovementioned indices in the observation group was significantly greater than that in the control group ( t = 7.255, 12.739, 4.703 and 2.442, all P < 0.05). During the treatment, no falls, adverse cardiovascular events, or death occurred in each group. After treatment, the Minnesota Living With Heart Failure Questionnaire scores in physical domain, emotional domain and other domains in the observation group were (23.96 ± 4.75) points, (9.47 ± 2.02) points, (26.31 ± 1.84) points, respectively, which were significantly lower than those in the control group [(28.63 ± 5.12) points, (12.35 ± 1.89) points and (32.76 ± 2.49) points, t = 6.867, 10.411 and 20.833, all P < 0.001]. After treatment, the Minnesota Living With Heart Failure Questionnaire scores in various domains in each group were significantly decreased compared with before treatment ( t = 6.648, 14.746, 28.782, 35.262, 9.665 and 27.962, all P < 0.05). Three-month rehospitalization rate in the observation group was significantly lower than that in the control group [10.0% (10/100) vs. 22.0% (22/100), χ2 = 5.357, P = 0.021]. Conclusion:Cardiac exercise rehabilitation for the treatment of heart failure with preserved ejection fraction can help improve the heart function, increase exercise endurance, improve prognosis, reduce rehospitalization rate, and improve quality of life.

OBJECTIVE: To analyze the incidence, genotype and hematological feature of hemoglobin H (HbH) disease in West Guangxi region. METHODS: A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled. Red blood cell parameters, hemoglobin electrophoresis, Gap-polymerase china reaction (Gap-PCR) and polymerase chain reaction-reverse dot blot (PCR-RDB) techniques were used to detect the 6 common α-thalassemia mutations and 17 common β-thalassemia mutations. The results were compared with those of other regions. RESULTS: The detection rate for HbH disease was 5.66%. Among the 1246 patients, 614 (49.28%) had deletion-type HbH disease, including -α CONCLUSION The prevalence of HbH disease is high in West Guangxi region, and the main genotypeis non-deletion. α
China/epidemiology* ; Genotype ; Humans ; Mutation ; Prevalence ; alpha-Thalassemia/pathology* ; beta-Thalassemia/genetics*

The construction of health file of patients with brucellosis in Qinghai Province was based on the Qinghai Provincial Public Health Network Information Platform. It was jointly participated and implemented by animal husbandry and veterinary departments, animal disease control centers, disease control centers and hospitals at all levels, to achieve standardized management of early detection, early diagnosis, early treatment, as well as follow-up, review, and efficacy evaluation. After analyzing the health file of brucellosis patients, we proposed to strengthen the propaganda of brucellosis, collect information from multiple diseases, share resources with multiple departments, integrate human resources and exert management responsibilities, and explore opinions and countermeasures suitable for local working conditions. The establishment of a health file for patients with brucellosis could fully grasp the diagnosis and treatment of brucellosis patients, facilitate the management of follow-up and review, and it was helpful to understand the distribution and prevalence of brucellosis in Qinghai Province, and to warn the epidemic trend.

Objective:To investigate the tumor-specific neoantigen for primary plasma cell leukemia (PCL) using gene sequencing technology combined with bioinformatic analysis. Methods: Peripheral blood samples of one patient with primary PCL during relapse and remission periods were collected. HLA molecular typing was performed using polymerase chain reaction with sequencing-based typing; whole-exome and transcriptome were sequenced by next-generation sequencing method; and bioinformatics software NetMHCpan was used to predict neoantigens. Results: Six tumor-specific missense mutations were found in the patient's peripheral blood during relapse period, located in genes FRG1, MLL3, SVIL, MYOM1, ZDHHC11 and RFPL4A.Considering patient's HLA sub-types, 43 neoantigens were predicted via bioinformatics. Considering that FRG1 and MLL3 had relatively high gene expression levels, 20 neoantigens derived from mutations of the two genes were preferentially selected, among which four neoantigens had high affinity with the patient's HLA molecules and thus had potential clinical application value. Conclusion: The study has completed a tumor neoantigen screen and prediction for primary PCL. This practice demonstrates that predicting neoantigen based on tumor-specific somatic mutation is feasible for primary PCL.

Normative development of human assisted reproduction technology not only depends on ethics con-sciousness of the employee, effective system guarantee and perfect supervision system but also depends on ethics consciousness of infertile couples. Popularizing the knowledge of reproductive ethics for infertile couples and foste-ring their ethics consciousness is a vital problem of normative development of human assisted reproduction technolo-gy and an effective way to solve the ethical issues of human assisted reproduction technology.

BACKGROUND:Animal experiments and clinical studies have shown that, functional deprivation at the early development stage may possibly cause nerve and cognition dysfunction at adulthood. However, no research focuses on the effect of olfactory function on the neurogenesis in piriform cortex of adult guinea pigs.
OBJECTIVE:To establish olfactory deprivation models and explore the effect of olfactory experience on the distribution of doublecortin, parvalbumin, glutamic acid decarboxylase 67 and the co-localization of doublecortin with neuron-specific nuclear-binding protein in piriform cortex of adult guinea pigs.
METHODS:Twenty guinea pigs were randomly divided into two groups. Olfactory deprivation models were established through unilateral naris-occlusion and the occluded animals were al owed to survive 3 and 6 weeks, then the specimens were harvested. The distribution of doublecortin, parvalbumin, glutamic acid decarboxylase 67 was detected with immunohistochemistry. The co-localization of doublecortin with neuron-specific nuclear-binding protein in piriform cortex of adult guinea pigs was determined with immunofluorescence method.
RESULTS AND CONCLUSION:The number of doublecortin, parvalbumin, glutamic acid decarboxylase 67 positive cel s in piriform cortex at the undeprived side was significantly higher than that at the deprived side at 3 and 6 weeks (P<0.05). There was no significant difference in the co-localization of doublecortin with neuron-specific nuclear-binding protein in piriform cortex at 3 weeks group and 6 weeks group (P>0.05). The findings suggest that olfactory experience promotes the maturation and differentiation of neurons in piriform cortex of adult guinea pigs.

Objective To preliminarily screen the neoplastic stem cell (NSC) related surface markers combination and to under-stand the NSC distribution in hepatoblastoma(HB) .Methods The children cases of HB undergone the surgical therapy in the Jian-gxi Provincial Children′s Hospital were selected .The immunohistochemical method was adopted for observing the expression and distribution of NSC-related markers CD34 ,Thy-1 ,c-kit ,CD56 and stem cell factor(SCF) in the HB tissue and the normal hepatic tissue away from the edge of tumor tissue 3cm outside .Results Thy-1 and c-kit were sporadically distributed in the HB tissue and mainly focued on the portal area ,but did not exressed in the normal liver tissue ;the expression of CD34 and SCF in HB was signifi-cantly higher than that in the normal liver tissue(P<0 .05) ,in which CD34 was mainly distributed in the endothelial system and SCF was mainly expressed in the portal area ;CD56 was expressed in the tissue of the clustered nerve fibers ,the expression differ-ence between them had no statistical significance (P>0 .05) .Conclusion The different NSC related surface markers are distributed in the HB tissue and focus on the specific areas .The positive cells of Thy-1/c-kit expression may play a role in the HB occurrence .

Objective To compare the bio-medical parameters in SIV infected Chinese rhesus monkeys with diverse disease progression,by which the pathogenesis of simian AIDS were to be investigated.Methods Sixteen Chinese rhesus monkeys were inoculated intravenously with SIVmac239 and followed-up for 18 months.Based on their progression patterns and plasma viral loads,animals were divided into 3 groups,including 1 rapid progressor( RP),13 normal progressors(NP),and 2 elite controllor(EC).Their parameters of haematology,virology,immunology and pathology were examined and compared. Results Compared with other animals,RM449(RP) showed higher viral load,unresponsive humoral immunity,and higher level of auto-antibodies against lymph node,thymus,and spleen.Additionally,its effector memory CD4 count was lower,with the transformation progress being blocked-like from naive/central memory subsets to effector memory subset,as the flow-cytometry assay showed.Notable decrease in its peripheral B cell was also observed,especially to the sub-population of tissue-like memory B cells and activated memory B cells.Pathological examination showed the depletion of lymphoid tissue,atrophy of spleen and loss of thymus.Moreover,most of these parameters of RM450 and RM453 (EC) changed opposite to that of RP.Conclusion The hallmarks of RM449 were higher viraemia and lower SIV specific IgG level,which may due to the disturbance of T cells and B cells development and differentiation.Moreover,destructions of organs of the immune system may contribute to the disturbance.Our study suggest that the change of micro-environments of thymus induced by SIV infection,which is necessary in T cell and B cell development and differentiation,may contribute at least partially to the AIDS pathogenesis.