Objective: To investigate the spatio-temporal distribution characteristics of pulmonary tuberculosis in Ningbo City from 2015 to 2020, so as to provide insights into tuberculosis control. Methods: The data of pulmonary tuberculosis cases in Ningbo City from 2015 to 2020 were collected from Tuberculosis Management Information System of China Disease Control and Prevention Information System, and were linked with the geographic information database of Ningbo Planning Design and Research Institute. The software SaTScan version 10.3 was employed for monthly spatio-temporal scanning and cluster analysis of reported pulmonary tuberculosis cases, populations, longitude and latitude in 153 townships of Ningbo City from 2015 to 2020. Results: There were one class Ⅰ cluster and two class Ⅱ clusters of pulmonary tuberculosis cases in Ningbo City from 2015 to 2020, and the class Ⅰ cluster was centered in Song'ao Township and covered 37 townships, with aggregation time from January 1, 2015 to December 31, 2017, while class Ⅱ clusters were covered 38 tounships which were centered in Sanqishi Township of Yuyao County, and one township in Hangzhou Bay New Town. The aggregation time was from January to June in 2015 and 2016, from March to August between 2017 and 2019 and between May and October, 2020. The overall reported incidence of pulmonary tuberculosis appeared a tendency towards a decline in each township of Ningbo City from 2015 to 2020; however, the incidence of pulmonary tuberculosis was more than 80 per 100 thousand in Fuming Township of Yinzhou District and Juexi Township of Xiangshan County in 2020. Conclusions There were significant spatio-temporal clustering characteristics of pulmonary tuberculosis incidence at a township level in Ningbo City from 2015 to 2020, and the clusters were mainly concentrated in the central and eastern Ningbo City. The reported incidence of pulmonary tuberculosis is high in Fuming Township of Yinzhou District and Juexi Township of Xiangshan County, where targeted regional tuberculosis control strategies should be implemented.

OBJECTIVEHLA-DMA and DMB are non-classical genes whose product (DM molecules) plays an important role in antigen presentation. Our present study was designed to investigate the relationship between human leukocyte antigen-DMA, -DMB and clinical status heterogeneity of type 1 diabetes.

METHODSA total of 80 children (male 36, female 44) with type 1 diabetes were selected as research subjects. Diagnosis of type 1 diabetes was made according to WHO criteria. The range of age at onset of type 1 diabetes was 2.5 - 14 years. Ninety-one healthy adult blood donors were selected as normal controls. Polymerase chain reaction and dot blot hybridization techniques were used to classify DMA and DMB alleles. Patients with type 1 diabetes were classified into different groups according to different clinical status, including sex, age of onset, ketosis onset situation on diagnosis, remained function of islet beta cell, etc. Then distribution of DM susceptive alleles and heterodimer in different clinical groups were studied.

RESULTSThe frequencies of DMA * 0103 and DMB * 0103 alleles in patients were significantly increased (50% vs. 8%, 43% vs. 22%, respectively), these two alleles confer susceptibility to type 1 diabetes in Chinese. The frequencies of DMA * 0103/DMB * 0102, DMA * 0103/DMB * 0103 and DMA * 0103/DMB * 0101 heterodimers were also increased in the patients. The above heterodimers confer predisposition to type 1 diabetes. Both DMB * 0103 allele and DM susceptive heterodimers are related to islet beta cell function on diagnosis. The patients with DMB * 0103 allele or DM susceptive heterodimers were significantly increased in the patients with lower C-peptide level on diagnosis (56% vs. 29%; 58% vs. 34% respectively). DM heterodimes were also related to onset age and ketosis-onset-situations of the patients. The patients carrying DM susceptive heterodimers had higher probability to suffer type 1 diabetes before 10 years of age and had the predisposition to ketosis or ketoacidosis on diagnosis.

CONCLUSIONHLA- class II non-classical alleles-DMA and DMB may play an important role in pathogenesis of type 1 diabetes, and clinical status heterogeneity of type 1 diabetes may be related to genetic mechanism.

Adolescent ; Alleles ; Child ; Child, Preschool ; Diabetes Mellitus, Type 1 ; genetics ; pathology ; Female ; Gene Frequency ; HLA-D Antigens ; genetics ; Humans ; Male ; Polymerase Chain Reaction

Diabetes Mellitus ; drug therapy ; genetics ; Female ; Follow-Up Studies ; Humans ; Infant, Newborn ; Insulin ; therapeutic use ; Male

OBJECTIVETo investigate the glutamate dehydrogenase 1 (GLUD1) gene mutation of three patients diagnosed as glutamate dehydrogenase congenital hyperinsulinism (GDH-HI).

METHODSThree patients diagnosed as GDH-HI and their parents were involved in the study. PCR-DNA direct sequencing was used to analyze the exons 6,7,10,11 and 12 of the GLUD1 gene.

RESULTSIn the first case, an R269H heterozygous mutation was found in the GLUD1 gene, with autosomal dominant inheritance. In the second case, there was a de novo S445L heterozygous mutation of the GLUD1 gene. No mutation was detected in the third case.

CONCLUSIONIn Chinese, R269H, S445L heterozygous mutation of the GLUD1 gene can lead to GDH-HI. Genetic analysis is necessary in making genetic diagnosis of congenital hyperinsulinsm.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Congenital Hyperinsulinism ; enzymology ; genetics ; DNA Mutational Analysis ; Exons ; Female ; Glutamate Dehydrogenase (NADP+) ; genetics ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation, Missense

Objective To study the association of fat mass and obesity associated gene(FTO gene) and genetic onset mechanism of obesity in Chinese children.Methods Two hundred and one Chinese children with obesity in Beijing Children's Hospital Affiliated to Capital Medical University from Jan.to Sep.2010,were selected as research subjects,183 healthy adult blood donors were selected as normal controls.Mass Spectrometry techniques were used to study the distributions of the alleles and gene type of FTO in patients and controls.And the relationship between FTO gene polymorphism and obesity in Chinese children were studied.Results The distributions of 5 FTO gene polymorphisms (rs9939609A,rs8050136A,rs3751812T,rs1421085C,rs7193144C) in obesity patients and healthy controls had significant differences.And the Haplotype analysis showed that all of the single nucleotide polymorphisms(SNPs) were in linkage disequilibrium,and three out of six (CTGGTCTGG,TCTGCAAAA,CTGGCCTGG) had significant differences between obesity patients and healthy controls (P ＜ 0.05).Conclusions The gene polymorphisms of rs9939609,rs8050136,rs3751812,rs1421085,rs7193144 of FTO gene confer significant susceptibility to obesity in Chinese children.The haplotypes of CTGGTCTGG,TCTGCAAAA,CTGGCCTGG have significant differences between obesity patients and healthy controls.

Objective To observe the alteration of thoracic and lumbar physiological curvature in adolescent idiopathic scoliosis(AIS)and the difference of physiological curvature between different types of scoliosis.Methods A retrospective analysis was conducted on 305 adolescent patients taken full spine X-ray in our hospital from January 2017 to December 2021.The patients were divided into normal group and scoliosis group.The normal group was composed of 179 patients,79 males and 100 females,aged 10 to 18 years old with an average of(12.84±2.10)years old,with cobb agle less than 10 degrees.The scol-iosis group was composed of 126 patients,33 males and 93 females,aged 10 to 18 years old with an average of(13.92±2.20)years old.The gender,age,Risser sign,thoracic kyphosis(TK)and lumbar lordosis(LL)in 2 groups were compared,and the TK and LL were also compared between different genders,different degrees of scoliosis and different segments of scoliosis.Re-sults The female ratio(P=0.001)and age(P＜0.001)in scoliosis group were higher than them in normal group;the ratio of low-grade ossification was higher in normal group than in scoliosis group(P=0.038).TK was significantly smaller in scoliosis group than in normal group(P＜0.001),but there was no significant difference in LL between the 2 groups(P=0.147).There were no significant difference in TK and LL between male and female.The TK was significantly bigger in mild AIS patients than in moderate AIS patients(P＜0.05),but there was no significant difference in LL between mild and moderate patients(P＞0.05).The TK and LL in different segments scoliosis were not found significant difference.Conclusion The physiological curvature of thoracic and lumbar spine is independent of gender.The thoracic physiological curvature becomes smaller in AIS patients,but lumbar curvature remains unchanged.The thoracic physiological curvature in mild AIS patients is greater than that in moderate AIS patients,but the lumbar curvature is almost unchanged between mild and moderate scoliosis and is similar with that in normal adolescent.The alteration of thoracic and lumbar physiological curvature in AIS patients may be related to relative an-terior spinal overgrowth,and the specific detailed mechanism needs to be further studied.