Objective:To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).Methods:A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People′s Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by Medical Ethics Committee of the Qingyuan People′s Hospital (Ethics No. IRB-2022-064).Results:Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46, XN, der(4)t(4; 8)(p16.1; p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46, XN, der(4)t(4; 9)(p15.3; p24)dpat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. Conclusion:The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.

Objective: To investigate the therapeutic effects and pharmacological mechanisms of Yishen Xingyang capsule (YXC) in oligoasthenospermia (OA) rats.Methods: Forty-eight male Sprague-Dawley rats were randomly divided into eight groups of six rats each:normal control (NC);model control (MC);three different positive drug (PD);and low-, medium-, and high-dose YXC groups. A rat model of OA was established by administering glucosides of Triptery-gium wilfordii Hook. F (GTW). After YXC administration, penile erectile function was observed. The epididymis, blood, and testes of the rats were harvested for analysis of sperm quality, sex hormone levels, mitochondrial membrane potential, and the transforming growth factor (TGF)-β1/Smad signaling pathway. Results: Compared with that in the MC group, penile erectile function in the YXC groups and three PD groups increased (all P<.01). Moreover, sperm quality in the YXC groups and three PD groups improved (all P < .001). The levels of testosterone, follicle stimulating hormone, and luteinizing hormone in the three PD and YXC groups increased (all P<.05). The mitochondrial membrane potential in the three PD and YXC groups significantly improved (all P<.001). Furthermore, the YXC and three PD groups showed decreased TGF-β1 expression (all P< .05) compared with the MC group. The high-dose YXC group and three PD groups improved Smad2 and Smad4 expression (all P<.05). Conclusion: YXC improved penile erectile function and sperm quality in OA rats, and the underlying mechanism included increase in sex hormones, inhibition of sperm apoptosis, and regulation of the TGF-β1/Smad signaling pathway. Meanwhile, this study provides a new effective drug option for the treat-ment of OA, which is beneficial to male reproductive health and social harmony.

As an important branch of artificial intelligence, machine learning is widely used in various fields. Machine learning has similarity to classical statistical methods, but can solve many problems which are difficult for traditional statistics, so it is one of the important tools in epidemiological research. This paper introduced 9 common algorithms of machine learning and summarized their characteristics and applications in epidemiological research. Readers could choose appropriate machine learning method according to the research purpose for the better application of machine learning in epidemiological research.

In prospective cohort study, multi follow up is often necessary for study subjects, and the observed values are correlated with each other, usually resulting in time-dependent confounding. In this case, the data generally do not meet the application conditions of traditional multivariate regression analysis. Sequential conditional mean model (SCMM) is a new approach that can deal with time-dependent confounding. This paper mainly summarizes the basic theory, steps and characteristics of SCMM.

Objective:To review the clinical efficacy and safety of the FOLFIRINOX (oxaliplatin, irinotecan, leucovorin, fluorouracil) regimen in treatment of pancreatic cancer.Methods:The clinical data of 31 patients with pancreatic cancer who were treated with the FOLFIRINOX regimen from July 2016 to December 2019 at the Department of General Surgery, China-Japan Friendship Hospital were retrospectively analyzed. For the 20 males and 11 females who were enrolled into this study, their age ranged from 29 to 80 years (mean 56.9 years). The FOLFIRINOX regimen was used as neoadjuvant therapy in 12 patients, postoperative therapy in 10 patients with liver-metastases, and postoperative adjuvant therapy in 9 patients (as second-line chemotherapy in 7 patients and as first-line chemotherapy in 2 patients). The clinical efficacy and adverse reactions of chemotherapy were evaluated.Results:In this study, 8 patients received the modified FOLFIRINOX regimen. Of the remaining 23 patients who received the standard FOLFIRINOX regimen, 10 (43.3%) were converted to the modified regimen because of adverse events. On clinical efficacy evaluation after neoadjuvant therapy: 5 patients achieved partial remission (PR), 3 stable disease (SD) and 4 progression disease (PD). The disease control rate (DCR) was 66.7% (8/12). For 10 patients got remission of abdominal pain, 5 patients underwent surgical resection. For the 10 patients with liver-metastases, 6 achieved PR, 1 SD, 3 PD. For 7 patients got disease control. For 8 patients had remission of abdominal pain, 1 patient underwent surgical resection. For the 7 patients who received second-line chemotherapy, 2 achieved PR and 5 PD. No tumor recurrence or metastases were found in the two patients after the first-line chemotherapy. Adverse events above grade three in all the patients included neutropenia in 12 patients (38.7%), leukopenia in 7 patients (22.6%) and thrombocytopenia in 1 patient (3.2%).Conclusions:The FOLFIRINOX regimen was efficacious with a high DCR rate and controllable adverse events. Balancing its efficacy and safety showed this regimen to be beneficial to patients with pancreatic cancer.

Objective:To investigate the distant metastasis after primary treatment of papillary thyroid cancer (PTC) in children and adolescents.Methods:A retrospective analysis of 180 cases (54 boys and 126 girls, with an age range of 6-18 years) with PTC treated at the Chinese Medical Academy Cancer Hospital and Zhejiang Cancer Hospital from January 1, 2001 to December 31, 2014 was performed. Patients’ clinical and pathological data were collected. The follow-up results were statistically analyzed. The distant metastasis rate during the follow-up period was analyzed by the Kaplan-Meier method. Log-Rank test was used for univariate analysis and Cox regression model was established in multivariate analysis.Results:Twenty-four cases (13.3%) had distant metastases during following-up with a median of 92 months. The Log-Rank test showed that the younger age ≤15 years old (χ 2=11.803, P=0.001), the larger tumor diameter >20 mm (χ 2=5.776, P=0.016), multifocal (χ 2=11.205, P=0.001), bilateral tumor distribution (χ 2=19.804, P=0.001), invaded capsule (χ 2=10.808, P=0.001), and bilateral lymph nodes metastasis (χ 2=6.278, P=0.012) were risk factors for distant metastasis after initial treatment. The Cox regression analysis showed that age ≤15 years (hazard ratio [95% confidence interval]: 4.08[1.504-11.111], P=0.006) and bilateral tumor distribution (hazard ratio [95% confidence interval]: 4.77[1.903-11.966], P=0.001) were independent risk factors for distant metastasis after initial treatment. The risk factors for local recurrence and distant metastasis were similar, but the local recurrence could not be a significant predictor for distant metastasis. It was indicated that distant metastasis rate was lower in patients with total thyroidectomy in multifocal lesions groups (χ 2=5.891, P=0.015). Conclusions:Age, tumor size, invaded capsule, bilateral lymph nodes metastasis, multifocal and bilateral lesions are factors for predicting distant metastasis after primary treatment of PTC in children and adolescents. Total thyroidectomy is recommended for patients with multifocal and bilateral lesions.

Objective: To assess the follow-up situstion and changes of policies related to the prevention and control on chronic non-communicable diseases (NCDs), in various provinces from 2011 to 2017. Methods: Three national assessment programs on the prevention and control capacity of NCDs were carried out from September 2012 to March 2013, September 2014 to March 2015, and July to November 2018 respectively. Data related to the capacity on policy implementation among the 31 provinces, autonomous regions, municipality directly under the central government and Xinjiang Production and Construction Corps, were collected through online surveys. Results: The rate of data collection in all the provinces reached 100%, for all three surveys. In 2011, 2013, and 2017, the capacity for policy development special funding was distributed for prevention and control NCDs under the provincial fiscal revenue by 27 provinces (84.4%), 26 provinces (81.3%) and 25 provinces (78.1%), and the numbers of provincial governments leaders attended the local activities related to prevention and control NCDs was 15 (46.9%), 13 (40.6%) and 19(59.4%), respectively. From 2009 to 2011, 14 (43.8%) proposals related to the topics on prevention and control of NCDs, were raised at the provincial People’s Congress and Political Consultative Conference, while from 2011 to 2013 and2014 to 2017, 13 (40.6%) and 12 (37.5%) were respectively raised. In terms of capacity for policy development, numbers of provincial comprehensive plan which targeting prevention and control of NCDs reached 6 (18.8%), 20 (62.5%) and 27 (84.4%) in 2011, 2013, and 2017 respectively. In 2011, 2013 and 2017, numbers of provincial special plans that targeting on NCDs or the risk factors of NCDs prevention and control were 0, 1, and 3, respectively. Conclusions Under the continuous introduction of international and national policies related to prevention and control on NCDs, capacity for policy formulation in various provinces has been greatly improved. However, a slight progress has been made in the capacity for policy making. The increase of capacity building on policy making regarding prevention and control of NCDs, at the provincial government level, has become a key issue.

Objective: To investigate the correlation between fetal cranial nervous system malformation and chromosome abnormality. Methods: The pregnant women with fetal cerebral nervous system dysplasia were collected from January 2013 to August 2018 at the Prenatal Diagnostic Center of the Sixth Affiliated Hospital of Guangzhou Medical University.The fetus was diagnosed by ultrasonography and karyotype analysis. Results: A total of 18 cases of abnormal karyotypes were detected from 85 patient samples, and the abnormal rates were 21.18%.Single cranial nervous system malformation was found in 47 cases, abnormal karyotypes in 4 cases, multiple system malformation in 38 cases, and abnormal karyotypes in 14 cases, and the abnormal karyotype rate of multiple system malformation was higher than that of single cranial nervous malformation (36.84% vs.8.51%, χ²=10.101, P=0.001 5). And the 88.89%(16/18 cases)of abnormal karyotypes were founded in the early and middle pregnancy (≤28 weeks). The abnormal karyotype detection rates of cranial nervous system malformation associated with cardiovascular, skeletal and limb, facial neck abnormalities were 58.82% (10/17 cases), 50.00% (6/12 cases) and 50.00% (9/18 cases), respectively.In the fetal phenotypes, the abnormal karyotype detection rates of choroid plexus cysts were up to 64.29%, followed by arachnoid cysts (50.00%), craniocerebral abnormalities (45.45%) and holoprosencephaly (36.36%). Conclusions Chromosomal aneuploidy or structural abnormalities can lead to abnormal development of the fetal cranial nervous system, in which the rates of abnormal karyotypes on fetal cranial nervous with cardiovascular malformation and choroid plexus cysts are the highest.

Objective To analyze the clinical experience of laparoscopic surgery for giant liver hemangiomas.Methods The clinical data of 40 patients who underwent laparoscopic surgery for giant liver hemangiomas from August 2012 to January 2018 in the China-Japan Friendship Hospital were retrospectively analyzed.The diameters of the liver hemangiomas were more than 10 cm for all the patients.The liver functions of all the patients were Child-Pugh class A.The follow-up was up to the end of February 2018.Results Laparoscopic treatment of giant liver hemangioma was successfully performed in 37 patients.Three patients were converted to open hepatectomy.The mean diameter of the giant liver hemangiomas was (10.8± 1.3) cm (ranged 10.0～15.0 cm).The mean operative time for laparoscopic therapy was (154.7±68.0) min (range 70～ 390 min).The mean intraoperative blood loss was 200 (100 ～ 400) ml.20 patients received autologous blood transfusion.Of these 2 patients received in addition allogeneic blood transfusion.The postoperative hospital stay was (6.9t2.0) days (range 4～14 days).Postoperative complications occurred in 3 patients (8.1％).Two patients developed postoperative pleural effusion and one pelvic effusion.Two patients responded well to puncture drainage and one to conservation management.There was no postoperative hemorrhage,bile leakage or air embolism.All patients were followed-up and no liver hemangioma recurrence was detected.Conclusion Laparoscopic surgery was a safe and efficacious procedure in selected patients with giant liver hemangioma.

Objective To summarize the experience of surgical treatments for giant liver hemangioma.Methods A retrospective study was made on the clinical data of patients with liver hemangioma larger than 10 cm in diameter,which were divided into two groups (10-＜ 20 cm,88 cases,≥ 20 cm,31 cases).Data included age and gender,presentation,treatment methods,peri-operative indexes,and complications.Results All patients complained symptoms,the average diameter was (16 ± 7) cm.There were 23,7,and 17 cases respectively with anemia,thrombocytopenia and hypofibrinogenemia,all were more often seen in ≥20 cm group (P ＜ 0.001).Five patients were diagnosed as Kasabach-Merritt syndrome in ≥20 cm group.Patients in ≥20 cm group also had greater rates of compression of the porta hepatis (P ＜ 0.001).Patients in ≥ 20 cm group were treated more often by hepatic resections,while enucleations was often done in 10-＜20 cm group.The ≥20 cm group had more blood loss (P ＜0.001)and autologous transfusion (P ＜ 0.001),greater rates of blood transfusion (P ＜ 0.001).There was no significant difference on morbidity between the two groups (P =0.194).Conclusions For giant liver hemangioma both enucleation and hepatic resection could be completed safely in experienced hands.