Objective: To evaluate the safety of free bivalent human papilloma virus (HPV) vaccine for junior middle school girls in Jiangxi Province, so as to provide the reference for HPV vaccination. Methods: The number of free inoculation of bivalent HPV vaccine for junior middle school girls in Jiangxi Province from August 1, 2023 to May 31, 2024 were collected by Jiangxi Provincial Immunization Planning Information System, and the cases of adverse events following immunization (AEFI) were collected by China Disease Prevention and Control Information System. A descriptive analysis was conducted to assess the incidence of AEFI among middle school girls who received free bivalent HPV vaccine. Results: Junior middle school girls in Jiangxi Province were vaccinated with free bivalent HPV vaccine for 1 061 023 doses, and 67 cases of AEFI were reported. Among the 67 cases, there were 50 cases of general reaction, 7 cases of abnormal reaction, 8 cases of psychogenic reaction and 2 cases of coupling syndrome. The reported incidence of AEFI, adverse reactions and psychogenic reactions were 6.31/100 000, 5.37/100 000 and 0.75/100 000 respectively. Adverse reactions were primarily general reactions (87.72%), with abnormal reactions counting for 12.28%. All AEFI cases were cured or improved, and no death or disability cases were reported. Conclusion The free vaccination of bivalent HPV for junior high school girls in Jiangxi Province is identified as highly safe, low adverse reaction reporting rate, and mainly general reactions, but attention should be paid to the prevention of psychogenic reactions in adolescents.

Objective : To learn the epidemiological characteristics of acute hepatitis B in Jiangxi Province from 2014 to 2021, so as to provide insights into perfecting hepatitis B prevention and control strategy. Methods: Data pertaining to acute hepatitis B was collected through the Chinese Disease Prevention and Control Information System. The temporal, spatial and population distributions of acute hepatitis B were analyzed using a descriptive epidemiological method. The trend in incidence of acute hepatitis B was analyzed using annual percent change (APC). Results: Totally 8 890 cases of acute hepatitis B were reported in Jiangxi Province from 2014 to 2021, with the reported incidence showing a tendency towards a decline (APC=-11.730%, P<0.05). The average annual reported incidence rate of acute hepatitis B was 2.42/105. Acute hepatitis B occurred all the year round, without obvious seasonal characteristics. The top three highest incidence rates were reported in Pingxiang City (7.12/105), Ganzhou City (3.12/105) and Fuzhou City (2.87/105). The lowest and highest incidence rates of acute hepatitis B were seen among residents aged under 10 years (0.30/105) and 20-29 years (3.86/105). The incidence rate of males was higher than that of females (3.25/105 vs. 1.55/105, P<0.05). Farmers were predominant population affected acute hepatitis B (5 764 cases, 64.84%). Conclusions The incidence of acute hepatitis B showed a downward trend in Jiangxi Province from 2014 to 2021, and the disease predominantly affected young males, farmers. Health education should be strengthened, and hepatitis B vaccination coverage should be promoted.

OBJECTIVE: To explore the clinical manifestations and genetic characteristics of patients with congenital central hypothyroidism due to variants of IGSF1 gene. METHODS: Clinical data, results of genetic testing, and follow-up of four patients admitted to Children's Hospital of Soochow University during 2017 to 2021 were retrospectively analyzed. RESULTS: All of the four patients were males. Patient 1 had presented neonatal jaundice, patients 2 and 3 were admitted for growth retardation during childhood, and thyroid function test indicated slightly low free thyroxine (FT4), patient 4 was found to have reduced FT4 in the neonatal period. Genetic testing revealed that all of the four patients have harbored pathogenic variants of the IGSF1 gene, which were all inherited from their mothers. The thyroid functions in all patients were well controlled with oral levothyroxine and regular follow-up. CONCLUSION Pathogenic variants of the IGSF1 gene probably underlay the congenital central hypothyroidism with a variety of clinical manifestations, and genetic testing can facilitate the diagnosis at an early stage.
Child ; Male ; Infant, Newborn ; Female ; Humans ; Retrospective Studies ; Hypothyroidism/genetics* ; Genetic Testing ; Mothers ; Immunoglobulins/genetics* ; Membrane Proteins/genetics*

OBJECTIVES: To evaluate the methodological quality of randomized controlled trials (RCTs) of traditional Chinese medicines for the treatment of gastric precancerous lesions in the past 20 years. METHODS: The RCTs on traditional Chinese medicines for gastric precancerous lesions were searched from the CNKI, Wanfang database, VIP, PubMed, and Embase from January 2001 to December 2021. The retrieved articles were screened, extracted and evaluated based on the 2010 edition of CONSORT statement, Cochrane Risk of Bias Assessment Scale and additional evaluation indicators. RESULTS: A total of 840 papers were included. According to the Cochrane Risk of Bias Assessment Scale, the high risk of bias in the application of randomized methods was 5.95%; the risk of uncertainty for the allocation scheme concealment was 98.93%; the risk of uncertainty for blinding of patients or testers was 98.69%; the risk of uncertainty for blinding of the outcome assessor was 100.00%; the risk of bias for completeness of the outcome data was 2.86%; and the risk of uncertainty for selective reporting was 98.45%. The CONSORT statement evaluating the quality of reporting showed that 100.00% of the RCT articles reported the 8 entries; 36.79% of the literature mentioned the method of randomized sequence generation, but only 27.62% of the literature mentioned who implemented the randomized program, 1.07% of the literature hid the randomized program and 1.31% of the studies were blinded; 36.67% of the literature reported adverse reactions; no literature reported sample size prediction methods. Additional evaluation indicators showed that 17.02% of the studies had ethical approval; 43.81% of the literature specified Chinese medicine evidence; 16.55% of the studies excluded severe heterotrophic hyperplasia; 7.26% of the studies conducted follow-up; and 65.12% of the literature used composite efficacy indicators; 46.67% of the literature applied pathological histological evaluation; 2.62% of the literature applied quality of life evaluation. CONCLUSIONS The overall risk of bias in RCTs of traditional Chinese medicines for gastric precancerous lesions is high, and the quality of most of the study reports needs to be improved. In the future, it is necessary to strengthen the study design of RCTs and refer to appropriate traditional Chinese medicines evidence grading standards, select study protocols according to different purposes, provide objective and strong evidence for clinical studies on traditional Chinese medicines, and carry out clinical study design and result reporting suitable for traditional Chinese medicines according to the CONSORT principle.
Humans ; Medicine, Chinese Traditional ; Randomized Controlled Trials as Topic ; Precancerous Conditions/drug therapy*

To analyze the clinical features and genetic variants of a child with type 4 familial partial lipodystrophy (FPLD4) and the initial manifestation of diabetes.The male patient with the age of 13 years and 5 months, and the diabetes course was about 3 years, the patient was admitted to Children′s Hospital of Soochow University on November 10, 2021(4 th hospitalization at the hospital), in the course of diabetes, the children repeatedly suffered from diabetes ketoacidosis, and lipid metabolism complications gradually emerged.The gene sequencing showed that the proband and his mother carried dual gene mutations of PLIN1 c. 1325delG(p.G442Afs*99) and SPINK1 c. 194+ 2T>C(p.? ). The PLIN1 gene was the causal gene of FPLD4.The mutations of c. 1325delG in the PLIN1 gene had not been previously reported.Based on the clinical phenotype, family history and genetic testing findings, the patient was diagnosed as FPLD4.In addition, the mutation of SPINK1 c. 194+ 2T>C(p.? ) might increase the risk of chronic pancreatitis.This case report enriched the clinical characteristics and genotype data of FPLD4.Gene sequencing assisted the accurate diagnosis of the type of diabetes.The effects of dual gene mutations on disease progression should be concerned, which were of great significance to develop treatment regimen and disease management.

Gastroesophageal reflux disease （GERD） is a frequently and commonly occurring disease in clinic. In recent decades， with the development in pathophysiology and drug researches， modern medicine has achieved remarkable progress and results in diagnosis and treatment. However， the treatments for non-erosive reflux disease， refractory gastroesophageal reflux disease， proton pump inhibitor resistance， overlap of disease symptoms， and extraesophageal symptoms are limited and ineffective. Traditional Chinese medicine （TCM） was widely used in clinical practice， which has been proved effective in relieving symptoms and improving the quality of life. Sponsored by China Association of Chinese Medicine （CACM） and undertaken by the Spleen and Stomach Disease Branch of CACM， "the 12^th Youth Salon of Clinical Predominance Disease Series （GERD）" invited 18 authoritative digestive experts of TCM and western medicine to discuss "the difficulties of clinical diagnosis and treatment of GERD and TCM advantages". The focus issues such as modern medical diagnosis and treatment achievements and contributions， improvement and maintenance of symptoms， response to overlapping disease symptoms， reduction and withdrawal of acid suppressors， and treatment of extra-esophageal symptoms were discussed in depth. TCM and western medicine exchanged and complemented each other's strengths， combing the difficulties of modern medical diagnosis and treatment， which clarified the positioning and advantages of TCM and provided guidance for clinical and scientific research.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS) is one of the most common inherited mitochondrial diseases. This paper reports a rare mutation associated with MELAS syndrome, the m. 3252 A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNALeu(UUR). The 6-year-old girl suffered from recurrent convulsion and lactic acidemia. The mtDNA sequencing detected a variant m. 3252A>G(MT-TL1 gene) in the proband and her maternal relatives. The heteroplasmic levels in peripheral blood and urine sediment were 66.53% and 97.42%, respectively, which were obviously higher than those of her maternal relatives. Together with 3 previously reported cases, the variant m. 3252A>G could be classified pathogenic. All the reported pathogenic variants in MT-TL1 gene were reviewed to explore the genotype-phenotype correlations of pathogenic variants in MT-TL1 gene.

OBJECTIVE: To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature. METHODS: A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted. RESULTS: The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported). CONCLUSION Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.
Aggrecans/genetics* ; Body Height/genetics* ; Child ; China ; Genetic Testing ; Humans ; Pedigree ; Retrospective Studies

Objective:To investigate the clinical and genetic characteristics of a boy with Ulnar-Mammary syndrome(UMS), and to review the literature.Methods:The clinical and genetic data of a boy with UMS, who was admitted to the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Soochow University in May 2018 were analyzed. Original papers on UMS published up to July 2019 were retrieved.Results:A male patient at the age of 12 years and 8 months visited us for growth retardation. He presented with high forehead, epicanthic folds, broad nasal tip, anteverted nostrils, high palate, dental crowding, mammary gland hypoplasia, and absence of axillary hairs, with height 148.9 cm(<-1 SD). Growth hormone stimulation test indicated growth hormone deficiency(growth hormone peak <5 ng/ml). After one year of treatment with recombinant human growth hormone, his height was improved. Gene sequencing identified a de novo heterozygous mutation of TBX3 c. 711DelC(p.N238Mfs* 4). According to ACMG guidelines in 2015, the mutation is pathogenic and has not been reported in the above databases.However, this mutation was not detected in his parents.Conclusion:UMS should be considered in dwarfism with special face, dysplasia of external genitalia, sweat glands, and mammary glands, and TBX3 is a pathogenic gene.

Objective To assess effectiveness of ketogenic diet on improving polycystic ovary syndrome (PCOS) patients accompanying with overweight and obesity. Methods A total of 72 PCOS patients planned to recruit in our study from December 29, 2018 to June 2019 were selected, and were randomly divided into experimental group and control group. The control group was given routine treatment and suggestions of life style, while the experimental group carried out ketogenic diet intervention alone for three months. All patients were followed up every day and rechecked monthly. The safety and effectiveness indexes of the two groups were observed. Results A total of fifty patients had been recruited until March 30, 2019, but one patient was lost in the follow-up. As a result, there were totally twenty-five patients in the experimental group with one patient lost in follow-up. In the remaining twenty-four patients, 75％ of these patients had recovered spontaneous menstruation in good condition. Ten patients who have been intervened over one month accepted the first re-examination. The results showed that the patient's weight, the body fat rate and the level of androgen detected in venous blood were all reduced after ketogenic diet after the intervention (P ＜ 0. 01), which revealed that the effect of ketogenic diet's intervention for PCOS was significant in the short term. Conclusion Ketogenic diet intervene in PCOS effectively restore spontaneous menstruation in patients for one month, the state of hyperandrogenism is significantly improved. Other hormones show improvement trends, but no significant difference compared with baseline. The mid-term and final reports of KIDs-001 are worthy of the wait.