ObjectiveTo introduce the basic design， development plan and objectives of a population-based birth cohort in Shanghai， and further present the main data and baseline characteristics of enrolled participants in the cohort， and to provide key information for reproductive health-related studies. MethodsThe Shanghai population-based birth cohort initiated on January 1， 2005， included newborns born in Shanghai every year and their parents， and collected information on reproductive health， reproductive treatment， birth characteristics， growth and development status， as well as the incidence， treatment and death of diseases by employing data linkage technology and investigations. This formed a birth cohort spanning the entire life cycle. ResultsAs of October 2022， a total of 2 978 538 newborns and their parents were included in the cohort. Among them， 2 905 135 （97.54%） were naturally conceived （NC）， and 73 403 （2.46%） were born through assisted reproductive technologies （ART）. The average age of parents was （32.56±4.12） years old for females and （34.62±5.34） years old for males in the ART group， which was higher than （28.02±4.71） years and （30.07±5.54） years for parents in the NC group. Among parents， females and males aged 30 and above accounted for 77.12% and 85.08%， respectively， which were higher than that of parents （35.28% for females and 49.66% for males） in the NC group. Furthermore， the percentage of parents with a college degree or above in the ART group was 73.23% for females and 73.66% for males， which were higher than those in the NC group （49.98% and 50.91%， respectively）. The multiple births rate in the ART group was 33.81%， which was higher than that in the NC group （1.88%）. The incidence of premature birth and low birth weight in the ART group were 24.47% and 19.08%， respectively， which was higher than that in the NC group （5.47% and 3.73%）. ConclusionThe comprehensive collection of reproductive health-related information in the birth cohort in Shanghai can provide essential resources to determine the influence of genetics， environment， reproductive treatment and other related factors on the health of offspring after birth.

ObjectiveTo elucidate the principles and methods of the Bayesian probabilistic linkage model， and to demonstrate the effect of applying the model in linking birth and death data. MethodsThrough the Shanghai birth and death registration system， data of 199 025 infants born in 2017 and 1 512 infants who died in 2017 and 2018 were collected. After cleaning the data， the data were divided into monthly blocks and fully linked. The Jaro-Winkler algorithm and Euclidean distance were employed to measure the similarity of fields for matching. A Bayesian probabilistic linkage model was constructed and the linking effect was evaluated using a confusion matrix. ResultsUsing the Bayesian probabilistic linkage model， the birth and death data of infants were effectively linked， revealing that 36.71% of infants who died in Shanghai were born outside the city， and the probability of infant death was 2.6‰. The confusion matrix of the test set showed a recall rate of 0.86， precision of 0.76， and an F-score of 0.81. ConclusionThe practical application of Bayesian probabilistic linkage demonstrates a good model performance， enabling the establishment of birth-death cohorts that more accurately reflect the true levels of infant mortality. Utilizing this technique to integrate data from different departments can effectively improve research efficiency in the field of public health.

Objective:Cushing′s disease(CD) is caused by the pituitary adrenocorticotroph hormone(ACTH) secreting adenomas, leading to increased serum cortisol levels and various abnormal metabolic processes. Untreated CD is linked to high mortality, thus it is critical to elucidate its pathogenesis. This study aims to explore the pathogenesis of pituitary ACTH adenomas using whole-genome sequencing analysis.Methods:Fresh tumor tissues and peripheral blood samples were collected in 9 confirmed cases of pituitary ACTH adenomas who underwent surgery. Whole genome sequencing was then performed, followed by analysis and verification of single nucleotide mutations, copy number variation(CNV) and chromosome structure variations.Results:Somatic USP8 mutations(p.Ser718del, p. Ser718Pro, p. Pro720Arg, p. Pro720Gln) were found in 5 patients, with a rate of 55.6%; CNV of USP8 was detected in 1 patient; TP53(p.Cys135Tyr), NF1(p.Val1049Glufs*11) and KMT2C(c.3323+ 1G>A) mutations were identified in 1 patient harboring wild-type USP8. CNV analysis showed a loss of heterozygosity in multiple chromosomes in a wild-type USP8 patient. Structural variations were found in 2 with unknown significance. No germline gene mutations were detected in this study.Conclusion:Somatic USP8 mutations, increased copy number of USP8, variations of tumor-related genes such as TP53 and extensive somatic CNV all contribute to pathogenesis of CD. Chromosomal structure variations may suggest high-risk pituitary ACTH adenomas, and call for frequent follow-up and aggressive treatment.

Disorders of sex development (DSD) are a group of rare complex clinical syndromes with multiple etiologies. Distinguishing the various causes of DSD is quite difficult in clinical practice, even for senior general physicians because of the similar and atypical clinical manifestations of these conditions. In addition, DSD are difficult to diagnose because most primary doctors receive insufficient training for DSD. Delayed diagnoses and misdiagnoses are common for patients with DSD and lead to poor treatment and prognoses. On the basis of the principles and algorithms of dynamic uncertain causality graph (DUCG), a diagnosis model for DSD was jointly constructed by experts on DSD and engineers of artificial intelligence. "Chaining" inference algorithm and weighted logic operation mechanism were applied to guarantee the accuracy and efficiency of diagnostic reasoning under incomplete situations and uncertain information. Verification was performed using 153 selected clinical cases involving nine common DSD-related diseases and three causes other than DSD as the differential diagnosis. The model had an accuracy of 94.1%, which was significantly higher than that of interns and third-year residents. In conclusion, the DUCG model has broad application prospects as a computer-aided diagnostic tool for DSD-related diseases.

Objective To grasp the general situation of patent application and authorization of 77 medical and health institutions in Zhejaing,to provide reference and basis for promoting the patent application and conversion.Methods Patent data were searched through Bai Teng net patent database,and SPSS 19.0 was used for statistical analysis.Results The total number of patent application showed a trend of generally rise.There were 1430 valid invention patents in total,among which 264 were invention patents and 1166 utility model patents.The total number of patens as well as invention patents were positive correlated to province GDP GDP and doctors per thousand population (r=0.824,0.812,0.784,0.771 respectively,P＜0.001).The rate of collaborative patent application was 6.28％,and there was a significant difference (α=0.05/3,P＜0.001) in the collaborative patent applications around Hangzhou,provincial and other cities medical and health institutions.Conclusions The total number of patents in 77 medical and health institutions in Zhejaing has reached a certain scale,and the number of patents increase with the economic development and the number of doctors per thousand population.The effective patents present in concentrating in regions,and the proportion of invention patents was low.

Objective Analyzing the construction process and application of health appropriate technology database in Zhejiang province and proposing related considerations and recommendations for the database construction.Methods To design and construct the technology database system,and using excel software to calculate statistic data.Results Established a health appropriate technology database,which contains 826 technologies that can be selected and promoted by the demonstration bases in the whole province.Conclusions The establishment of the technology database increased the efficiency of health appropriate technology transformation at the provincial level,and also provided a reference for the national-wide generalizing of health appropriate technology.

Objective To investigate the value of X-ray guided desmopressin (DDAVP) stimulated bilateral inferior petrosal sinus sampling (IPSS) in diagnosing the recurrence of ACTH dependent Cushing disease or ineffectiveness after surgery or radiotherapy. Methods Retrospective analyses of patients with recurrent ACTH dependent Cushing disease (31 cases) or ineffective (3 cases) treatment after surgery or radiotherapy from January 2013 to October 2014 in our hospital was conducted. Bilateral inferior petrosal sinus angiography showed the same side of the cavernous sinus to prove successful intubation. The cases with discontinuous of the inferior petrosal sinus and cavernous sinus were excluded by this study. Finally, there were 34 cases of the patients in this study. Diagnosis was based on the ratio of ACTH level in IPS to peripheral vein after desmopressin test.The gradient≥2 at baseline or gradient≥3 after desmopressin test suggested the sources were in the pituitary. Diagnosis was confirmed by gold standard to investigate the value of X-ray guided desmopressin (DDAVP) stimulated bilateral IPSS. Results The IPS gradient≥2 at baseline or gradient≥3 after desmopressin test suggested the sources were in the pituitary in 30 patients. A total of 22 (22/30) patients underwent surgery with a final diagnosis of ACTH adenoma. The symptoms were obviously relieved in 8 (8/30) cases after sellar area gamma knife treatment and lesions were confirmed in the pituitary. IPS gradient<2 at baseline or gradient<3 after desmopressin test was found in 4 cases. One case (1/4) was found to have for ACTH adenoma after pituitary surgery. The other 3 cases (3/4) were confirmed to have lung carcinoid and clinical symptom alleviated after surgery. The sensitivity of desmopressin stimulated IPSS was 96.8%, the specificity was 100%, and the accuracy was 97.1%. Conclusion Desmopressin stimulated IPSS is an effective diagnostic procedure in diagnosing ACTH dependent Cushing disease recurrence or ineffectiveness after surgery or radiotherapy.

AIM:To determine the biological feature of circulating endothelial cells (CECs) in acute promye-locytic leukemia ( APL) patients before and after treatment , and to analyze the relationship between CECs and the clinical characteristics .METHODS: The CECs were sorted from peripheral blood by magnetic-activated cell sorting and then counted by 3-color flow cytometry.The cells were identified by immunofluorescence staining for the expression of CD 146, CD31, CD144, VEGFR-2, CD45 and CD133.The CECs were cultured in vitro, and the tube formation and colony-forming rate were determined .RESULTS:Increased quantity of CECs was observed in CD 34 positive group and group with WBC >10 ×109/L (P<0.05).The quantity of CECs had a significant difference among low risk , medium risk and high risk groups (P<0.05).The positive rate of CD133 and quantity of CECs significantly reduced in 32 APL patients when they gain complete remission after treatment (P<0.05).The amount of tube formation and colony-forming rate were significant-ly reduced after treatment (P<0.05).The ratio of CECs quantity from APL patients after treatment to that before treatment had a negative correlation with arsenic concentration in urine on day 7 during As2O3 treatment (P<0.05).CONCLU-SION:Accurately counting CECs may be helpful for evaluating prognosis and designing treatment strategy .

Objective To investigate whether quantitative dynamic contrast enhanced MR can predict final pathologic response in primary breast cancer patients undergoing neoadjuvant chemotherapy (NAC).Methods Forty seven patients who were pathologically proved infiltrating ductal carcinoma with core needle puncture biopsy were examined before NAC and after 2 cycles of treatment and the quantitative parameters (Ktrans,Kep and Ve) were analyzed prospectively.Histological response is categorized as non-major histological response (NMHR) and major histological response (MHR).Quantitative parameter changes measured after 2 cycles of NAC were compared between MHR and NMHR using non parametric tests (Mann-Whitney U test) and pretreatment parameters were compared using independent samples t tests.Receiver operating characteristic curve (ROC) was used to determine the best predictor and cutoff value.Results Fifteen patients were grouped into MHR and 32 patients were NMHR.Pretreatment parameters(Ktrans,Kep and Ve) were(1.51 ±0.33) /min,(2.97 ± 1.06) /min and (0.55 ±0.16) in MHR and (1.53 ±0.40) /min,(2.82 ± 0.99) /min and (0.57 ± 0.20) in NMHR.There was no significant difference between the two groups (t values were-0.123,0.450 and-0.380,respectively,P ＞ 0.05).Changes inkinetic parameters(K,Kep and Ve) were-88.2％ (-96.0％ to 1.5％),-62.5％ (-94.3％ to -8.7％) and-57.0％(-82.1％ to 55.5％) in MHRand-8.1％(-88.5％ to 32.4％),-18.2％ (-62.1％ to 145.9％) and-4.7％ (-83.1％ to 95.7％) in NMHR.There were significant difference between the two groups (Z values were 4.359,4.359 and 3.332,respectively,P ＜ 0.01).The areas under ROC curve of AKtrans,AKep and Ktrans after 2 cycles of NAC were all 0.898.Sensitivity of the three parameters for predicting NMHR were 87.5％,90.6％ and 78.1％,and specificity were 86.7％,80.0％ and 93.3％,respectively.Conclusion Quantitative dynamic contrast enhanced MRI can predict final pathologic response in primary breast cancers after 2 cycles of NAC.