Objective:To establish a cutoff level of anti-Müllerian hormone(AMH)which could help with the di-agnosis of polycystic ovary syndrome(PCOS)in adults,and to analyze the risk factors of metabolic syndrome(MS).Methods:A retrospectively analyzed 426 PCOS patients(PCOS group)and 205 healthy controls aged 20-39 years from the Health Checkup Center of the Gynecological Endocrine Center,Hunan Maternal and Child Health Hospital from January 2021 to December 2023.AMH diagnostic validity was estimated by receiver operating characteristic(ROC)curves.Patients were subgrouped into PCOS combined metabolic syndrome group(MS-PCOS)and the uncomplicated MS group(UMS-PCOS)according to metabolic status.Multivariate Logistic regression analysis was performed to determine the risk factors for MS in PCOS patients.Results:The serum AMH level was higher in PCOS group than that in the control group(8.42±3.71 ng/ml vs.2.99±0.94 ng/ml,P＜0.001).AMH cutoff for the diagnosis of PCOS was determined as≥4.87 ng/ml on ROC analysis,and the area under the curve is 0.981 with 92.7％sensitivity and 94.6％specificity.The prevalence of MS was 18.3％(78 ca-ses)in PCOS group.Subgroup analysis showed that MS-PCOS patients had higher waist circumference,BMI,fasting glucose,dyslipidemia,hypertension(BP＞130/85 mmHg),and hormone related index androgen level,but lower AMH vs.UMS-PCOS.Multivariate Logistic regression analysis identified insulin resistance(OR 39.17,95％CI 9.33-164.48),BMI ≥24 kg/m2(OR 3.72,95％CI 1.86-7.45),and hyperandrogenism(OR 2.56,95％CI 1.34-4.89)as independent risk factors of MS.AMH was negatively associated with MS,a single-unit increase in AMH was associated with an 17％decrease in odds of MS(OR 0.83,95％CI 0.73-0.95,P=0.006).Conclusions:Serum AMH levels were significantly higher in adult PCOS patients,with an optimal diagnostic threshold of 4.87 ng/ml.Hyperandrogenism and low AMH levels may predict a higher risk of MS,in addition to metabolism-related factors.

Objective To investigate the therapeutic effects and mechanism of quercetin in the treatment of periodontitis.Methods The rat periodontitis model was induced using ligation combined with lipopolysaccharide(LPS)injection method.Fifty successfully modeled periodontitis rats were randomly divided into 5 groups:the model group,the quercetin group(100 mg/kg quercetin by oral gavage),the quercetin+fibroblast growth factor receptor 1(FGFR1)overexpression plasmid(AV-FGFR1)group[100 mg/kg quercetin by oral gavage+10 nmol AV-FGFR1 via tail vein injection],the AV-FGFR1 group(10 nmol FGFR1 overexpression plasmids via tail vein injection),and the AV-NC group(10 nmol empty plasmids via tail vein injection),with 10 rats in each group.The normal group(10 rats)received the same volume of saline by oral gavage.After treatment completion,alveolar bone loss was observed by Micro-CT,periodontal tissue damage was observed by hematoxylin-eosin(HE)staining,serum levels of tumor necrosis factor(TNF)-α,interleukin(IL)-1β,and IL-18 were measured by enzyme-linked immunosorbent assay(ELISA),the proportion of FGFR1-positive cells in periodontal tissues was detected by immunohistochemistry,and protein expression levels of the FGFR1/Toll-like receptor 4(TLR4)/NLRP3 inflammasome pathway were analyzed by Western Blot.Results Compared with the normal group,the model group and AV-FGFR1 group showed significantly decreased bone mineral density(BMD)and bone volume/tissue volume(BV/TV),while serum TNF-α,IL-1β,IL-18 levels,the proportion levels of FGFR1-positive cells,and protein expression levels of FGFR1,TLR4,NF-κB p65,NLRP3,apoptosis-associated speck-like protein(ASC),and cleaved cysteinyl aspartate specific proteinase caspase-1(C-caspase-1)were increased,with statistical significance(P＜0.05).The AV-FGFR1 group exhibited more obvious decrease or increase effects.Administration of quercetin significantly improved these indexes in the model group.However,the therapeutic effects of quercetin were weakened after FGFR1 overexpression.Conclusion Quercetin can repair alveolar bone loss,ameliorate histopathological damage,and alleviate inflammatory injury in periodontitis rats,which may be mediated through inhibition of the FGFR1/TLR4/NLRP3 inflammasome pathway.

Objective:To establish a cutoff level of anti-Müllerian hormone(AMH)which could help with the di-agnosis of polycystic ovary syndrome(PCOS)in adults,and to analyze the risk factors of metabolic syndrome(MS).Methods:A retrospectively analyzed 426 PCOS patients(PCOS group)and 205 healthy controls aged 20-39 years from the Health Checkup Center of the Gynecological Endocrine Center,Hunan Maternal and Child Health Hospital from January 2021 to December 2023.AMH diagnostic validity was estimated by receiver operating characteristic(ROC)curves.Patients were subgrouped into PCOS combined metabolic syndrome group(MS-PCOS)and the uncomplicated MS group(UMS-PCOS)according to metabolic status.Multivariate Logistic regression analysis was performed to determine the risk factors for MS in PCOS patients.Results:The serum AMH level was higher in PCOS group than that in the control group(8.42±3.71 ng/ml vs.2.99±0.94 ng/ml,P＜0.001).AMH cutoff for the diagnosis of PCOS was determined as≥4.87 ng/ml on ROC analysis,and the area under the curve is 0.981 with 92.7％sensitivity and 94.6％specificity.The prevalence of MS was 18.3％(78 ca-ses)in PCOS group.Subgroup analysis showed that MS-PCOS patients had higher waist circumference,BMI,fasting glucose,dyslipidemia,hypertension(BP＞130/85 mmHg),and hormone related index androgen level,but lower AMH vs.UMS-PCOS.Multivariate Logistic regression analysis identified insulin resistance(OR 39.17,95％CI 9.33-164.48),BMI ≥24 kg/m2(OR 3.72,95％CI 1.86-7.45),and hyperandrogenism(OR 2.56,95％CI 1.34-4.89)as independent risk factors of MS.AMH was negatively associated with MS,a single-unit increase in AMH was associated with an 17％decrease in odds of MS(OR 0.83,95％CI 0.73-0.95,P=0.006).Conclusions:Serum AMH levels were significantly higher in adult PCOS patients,with an optimal diagnostic threshold of 4.87 ng/ml.Hyperandrogenism and low AMH levels may predict a higher risk of MS,in addition to metabolism-related factors.

Objective:To describes the probability and rate of native liver survival (NLS) in biliary atresia (BA) patients after Kasai portoenterostomy (KPE)over various time periods and analyzes the perioperative factors associated with liver transplantation or death.Methods:A retrospective case-summary.BA patients administrated at the Department of Fetal and Neonatal Surgery in Hunan Children′s Hospital between January 2015 and December 2021.Probability and rate of NLS were calculated by life table.Cox proportional hazards regression model and Logistic model was applied to explore the perioperative factors related to post-Kasai liver transplantation/death.Results:The median age at Kasai surgery was 62 days.The rate of jaundice clearance (JC) was 64.5% within 3 months after Kasai, and 58.3% of the patients had cholangitis.The probability of NLS reached its lowest point in the first 1 year after Kasai (76.2%) and ranged from 93.2% to 98.0% in years 2-8 after Kasai.The rates of NLS in 2 years, 5 years and 8 years were 71.1%, 62.8% and 56.0%, respectively.Cytomegalovirus (CMV) infection before or on the day of Kasai without antiviral treatment can increase the risk of liver transplantation or death[ HR(95% CI): 1.628 (1.081-2.452), P=0.020].Preoperative gamma-glutamyl transferase increased the risk of liver transplantation/death within 1 year after Kasai[ OR(95% CI): 1.001 (1.000-1.001), P=0.021], and early cholangitis was a risk factor for liver transplantation/death within 5 years after Kasai[ OR(95% CI): 1.934 (1.004-3.726), P=0.048].JC within 3 months post-KPE was a protective factor of NLS. Conclusions:The first year after Kasai was the highest risk period for liver transplantation/death, which should be the focus of follow-up management.JC within 3 months after surgery is the protective factor for overall NLS, 1-year NLS and 5-year NLS.

Objective:To describes the probability and rate of native liver survival (NLS) in biliary atresia (BA) patients after Kasai portoenterostomy (KPE)over various time periods and analyzes the perioperative factors associated with liver transplantation or death.Methods:A retrospective case-summary.BA patients administrated at the Department of Fetal and Neonatal Surgery in Hunan Children′s Hospital between January 2015 and December 2021.Probability and rate of NLS were calculated by life table.Cox proportional hazards regression model and Logistic model was applied to explore the perioperative factors related to post-Kasai liver transplantation/death.Results:The median age at Kasai surgery was 62 days.The rate of jaundice clearance (JC) was 64.5% within 3 months after Kasai, and 58.3% of the patients had cholangitis.The probability of NLS reached its lowest point in the first 1 year after Kasai (76.2%) and ranged from 93.2% to 98.0% in years 2-8 after Kasai.The rates of NLS in 2 years, 5 years and 8 years were 71.1%, 62.8% and 56.0%, respectively.Cytomegalovirus (CMV) infection before or on the day of Kasai without antiviral treatment can increase the risk of liver transplantation or death[ HR(95% CI): 1.628 (1.081-2.452), P=0.020].Preoperative gamma-glutamyl transferase increased the risk of liver transplantation/death within 1 year after Kasai[ OR(95% CI): 1.001 (1.000-1.001), P=0.021], and early cholangitis was a risk factor for liver transplantation/death within 5 years after Kasai[ OR(95% CI): 1.934 (1.004-3.726), P=0.048].JC within 3 months post-KPE was a protective factor of NLS. Conclusions:The first year after Kasai was the highest risk period for liver transplantation/death, which should be the focus of follow-up management.JC within 3 months after surgery is the protective factor for overall NLS, 1-year NLS and 5-year NLS.

Langerhans cell histiocytosis(LCH)and Langerhans cell sarcoma(LCS)are characterized by clone proliferation of Langerhans-type cells, which may occur concurrently or sequentially with T-cell acute lymphoblastic leukemia (T-ALL) and other Lymphoid neoplasms. A 15-year old female patient diagnosed with T-ALL developed LCH involving multiple systems during maintenance chemotherapy of T-AL. After treated with chemotherapy with improved result, the patient showed progression of the illness and refractory to the second-line treatment. We found c.G35A (p.G12D)mutation in the KRAS gene and used the targeted drug Trametinib for treatment. The treatment proved effective, leading to partial remission within a week. Three months after Trametinib treatment, the patient developed new lymphadenopathy. Biopsy revealed the existence of LCS. The disease progressed quickly, and the patient died 7 days after diagnosis of LCS. The case of patients with T-ALL then developing LCH and LCS sequentially is extraordinarily rare. The causes of the case is unclear and may be related to cell transdifferentiation, clonal evolution, and chemotherapy. Targeted drugs can contain this disease for a short time.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

Objective To summarize the pathology of congenital intestinal atresia,the incidence and prenatal diagnosis rate of different types,and to analyze the location and type of intestinal atresia as well as the factors that affect the mortality of various types of intestinal atresia.Method We retrospectively analyzed the clinical data of 147 children with congenital intestinal atresia from January 2013 to March 2016,including gender,gestational age,parity,prenatal diagnosis or not,delivery methods,hospital admission,surgical methods,findings during surgery,combined malformations,complications and prognosis.They were analyzed statistically.Result A total of 147 cases,including 69 males and 78 females were enrolled.There were 40 premature infants and 107 full term cases.Twins were found in 3 cases.Hospital admission age range from 1 hour to 62 days;admission weight range from 1 480 g to 4 200 g;32 cases were diagnosed before birth.2 cases were abandoned before surgery because of trisomy 21.Postoperatively,the occlusion sites was confirmed as following:67 cases (46.2％) in ileum,43 cases (29.7％) in jejunum,26 cases (17.9％) in duodenum,and 9 cases (6.2％) in colon.The pathological types were as following:type Ⅰ 42 cases (29.0％),type Ⅱ 8 cases (5.5％),type Ⅲa 65 cases (44.8％),type Ⅲb 15 cases (10.3％) and type Ⅳ 15 cases (10.3％).22 cases (14.9％) were died because of refusal of treatment:7 cases were due to short bowel syndrome and meconium peritonitis,6 cases were due to postoperative chronic pseudo-obstruction,and 5 cases had anastomotic leakage requiring reoperation.1 case had postoperative enterocolitis and gave up treatment,1 case had anastomotic leak and sever systemic post-surgery infection and gave up further treatment,and 2 cases gave up because of 21-trisomy syndrome.Conclusion The operation plan of intestinal atresia should be based on the location and type of the blockade;the location and complications of the blockade (pseudo-obstruction,short bowel syndrome,and anastomotic leakage) are important factors affecting the treatment and prognosis.

Objective To investigate the effect of surgical treatment of necrotizing enterocolitis (NEC) with different surgical ages.Methods From January 2014 to December 2017,105 neonates with NEC in our hospital were divided into early operation group (operation age ＜ 7 days,n =47) and late operation group (7 ＜ operation age ＜ 28 days,n =58).The general data,surgical indications,intraoperative conditions,surgical methods,postoperative complications,and postoperative survival rates were compared between the two groups.Results Among the 105 neonates with NEC,74 were male and 31 were female.The average birth weight was (2 398 ± 927)g,and the average gestational age was (35 ± 4)weeks.Compared with the early operation group,the late operation group had lighter birth weight,smaller gestational age and higher rate of respiratory failure (P ＜ 0.05).There was no significant difference between the two groups in the proportion of surgical indications (diffuse peritonitis,pneumoperitoneum,and medical treatment ineffective) (P ＞ 0.05).The necrosis rate of small intestine in the late operation group was higher than that in the early operation group,but the necrosis rate of small intestine and colon was lower than that in the early operation group (P ＜ 0.05).There was no significant difference in the proportions of the two groups in the surgical methods (enterostomy,intestinal resection and anastomosis and enterostom,exploratory laparotomy,abdominal drainage,and intestinal resection and anastomosis) (P ＞ 0.05).The incidence of intestinal stenosis in early operation group was higher than that in late operation group (P ＜ 0.05).The survival rate of early operation group was 78.7％,while that of late operation group was 63.8％,with no significant difference (P ＞ 0.05).Conclusions The patients with NEC who were operated within 1 week after birth are more common in term infants and with colon necrosis,and are more likely to occur intestinal stenosis after surgery.The patients with NEC who were operated after 1 week of birth are more common in prematures and low-birth-weight patients,and are often associated with respiratory failure.Pneumoperitoneum and diffuse peritonitis are common surgical indications for NEC.Enterostomy is the major surgical method.Choosing the right timing and surgical method can improve the prognosis of patients with NEC.

BACKGROUND:Hard palate mucosa serves as a main donor material in periodontal plastic surgery and its thickness is crucial for the surgical outcomes. OBJECTIVE: To analyze the thickness of hard palate mucosa in Han population, and analyze the consistency between cone-beam CT image analysis and trans-gingival probing method. METHODS: A total of 30 Han volunteers (300 teeth) were recruited, and the thickness of hard palate mucosa was measured using cone-beam CT image analysis or trans-gingival probing method, to analyze their consistency. RESULTS AND CONCLUSION: The two methods showed a higher consistency in the thickness of hard palate mucosa at the cuspid, first and second premolars as well as first and second molars. The thickness of the hard palate mucosa related to the distance from the gingival margin and tooth position, the thickness from the canine region to the second premolar region thickening gradually, and became the thickest at the second molar, and the thinnest at the cuspid. This study for the first time analyzed the thickness of hard palate mucosa in Chinese Han population, and confirmed there is a high consistency between cone-beam CT image analysis and trans-gingival probing method.