Objective:To explore the clinical characteristics and genetic etiology of four children with Phelan-McDermid syndrome (PMS).Methods:Four children who had visited the Affiliated Women and Children′s Hospital of Ningbo University between June 2, 2022 and May 8, 2023 were selected as the study subjects. Clinical data of the children were collected. Genomic DNA was extracted from peripheral blood samples of the children and their parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and quantitative PCR (q-PCR) analysis. This study was approved by the Medical Ethics Committee of the Affiliated Women and Children′s Hospital of Ningbo University (Ethics No. EC2020-048).Results:All children had presented with speech and language delays and intellectual disability. Children 3 and 4 also presented with autistic behaviors. WES showed that the children 1 and 2 had respectively carried a heterozygous c.731T>C (p.Leu244Pro) and a c.2782_2851del (p.Gly928ArgfsTer4) variant of the SHANK3 gene. Sanger sequencing confirmed that their parents did not carry the same variant, suggesting that they were de novo in origin. Children 3 and 4 had respectively harbored a 121 kb and 52.02 kb heterozygous deletion at chromosome 22q13.33, which had both encompassed the SHANK3 and ACR genes mapped to 22q13.33. q-PCR results showed that the deletion of SHANK3 and ACR genes were de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 731T>C and c. 2782_2851del variants were predicted to be likely pathogenic (PS2+ PM2_Supporting+ PP3) and pathogenic (PVS1+ PM2_Supporting+ PS2_Supporting), respectively. Furthermore, the 52.02 kb and 121 kb heterozygous deletions in 22q13.33 were both predicted to be pathogenic (2D+ 4C, 1.05 in score; 2D+ 4C, 1 in score). Conclusion:The four children were all diagnosed with PMS by genetic testing. Above finding has enriched the phenotypic and mutational spectrum of PMS, and provided a basis for clinical diagnosis and genetic counseling for their families.

Objective The long-term epidemiological and etiological characteristics of hand, foot and mouth disease (HFMD) in Huai’an, Jiangsu were analyzed to provide scientific evidence for the prevention of HFMD. Methods The data of HFMD reports, etiological diagnosis and in Huai’an from 2009 to 2022 were described and analyzed. Results A total of 78 535 cases were reported from 2009 to 2022 , with 14-year average annual incidence rate of 114.71/100 000. Before 2020, the incidence rate of HFMD in Huai’an showed the epidemic intensity increased every other year on the whole, and the average annual incidence rate during the COVID-19 pandemic (2020-2022) (55.69/100 000) was significantly lower than that in previous years (2009-2019) (129.95/100 000). The joinpoint regression analysis showed that the best fitting model from 2009 to 2022 had no joinpoints, APC=AAPC=-1.24%. The overall trend showed a monotonously decreasing trend, but the trend was not statistically significant. The male-to-female distribution ratio was 1.53:1, and the age distribution was mainly under 5 years old, especially in scattered children. The epidemic season was from April to July. The results of etiological surveillance showed that the co-epidemic of Coxsackievirus A16 (CV-A16) and Enterovirus A71 (EV-A71) during the early stages had changed to the co-epidemic of CV-A16 and CV-A6 in the current period. Conclusion The burden of HFMD in Huai’an was large, and the epidemic intensity increased every other year was affected by the COVID-19 pandemic. The epidemiological features after the COVID-19 pandemic should be further monitored.

With the development of patient-centered medical model,patient values and preferences have become a hot research topic.This paper starts from the concept of patients'values and preferences,analyzes the important importance of patients'values and preferences;Based on the published literature,the importance of patients'values and preferences in the development of acupuncture clinical guidelines,the positive role in doctor-patient co-decision,the value of patients'cognition and value promotion in acupuncture"Deqi"were sorted out,and the influencing factors of patients'values and preferences and acupuncture compliance were summarized.According to the influencing factors,the corresponding solutions were proposed to help patients establish correct values,and thus improve patients'acupuncture compliance.

Standardization is the universal language of the world, and standardization of traditional Chinese medicine (TCM) is essential for its communication in China and globally. However, the principles and methods of TCM acupuncture standardization have been unclear and inadequate in the early stages. Based on an investigative approach to understanding the current status, identifying problems, and finding solutions, our team has established basic principles of TCM acupuncture that embody Chinese wisdom, evaluated the international strategic environment systematically, proposed the principle of “importance of harmony and exercise of impartiality”, and established basic working principles. A series of methods for TCM acupuncture standard development and evaluation have been constructed, including general standards for the revision of TCM acupuncture standards, the first TCM acupuncture clinical research management specification, a shared full chain technology platform, a data center, and an evaluation research base for TCM acupuncture clinical research. Evaluation criteria for ancient literature and expert experience, a recommendation method for the “three main and three auxiliaries” TCM guideline for prevention were established, and quantifiable assessment methods of TCM standard applicability were proposed. These findings provide methodological guidance for TCM acupuncture standardization.

Objective To observe the ultrasonic manifestations and outcomes of fetal congenital kidney anomalies(CKA)during the second trimester of pregnancy.Methods Data of 223 singleton fetuses with CKA detected with ultrasound during the second trimester of pregnancy were retrospectively analyzed.The ultrasonic manifestations of fetal CKA during the second trimester of pregnancy were observed,and the changes till the third trimester of pregnancy were analyzed.Results Among 223 CKA fetuses,simple renal pelvis separation was detected in 142 fetuses,while simple double renal pelvis malformation in was found in 41,polycystic kidney disease in 11,absent kidneys in 7,simple renal cysts and ectopic kidneys each in 6,smaller kidneys in 4,horseshoe kidneys and unilateral renal pelvis separation complicated with contralateral double renal pelvis malformation each in 2,unilateral renal cyst swelling complicated with contralateral double renal pelvis malformation and unilateral renal double renal pelvis malformation complicated with renal pelvis separation was noticed each in 1 fetus.Abnormalities such as renal pelvis separation,renal pelvis malformation,renal cysts and smaller kidney changed during the third trimester of pregnancy,while polycystic kidney disease,absent kidney,ectopic kidney and horseshoe kidney not significantly changed.Conclusion Fetal CKA had various types being able to change dynamically with the development of pregnancy,among which renal pelvis separation was the most common type.

Objective To observe the ultrasonic manifestations and genetic abnormalities in the second trimester of pregnancy of fetal congenital kidney anomalies(CKA).Methods Totally 14 singleton pregnancy women with CKA fetus detected with prenatal ultrasound and proved by genetic examination who underwent prenatal ultrasound in the second trimester of pregnancy were enrolled.The ultrasonic manifestations and genetic abnormalities in the second trimester of pregnancy were observed.Results Among 14 fetuses,simple renal abnormalities were detected in 10,while renal abnormalities complicated with extrarenal abnormalities were noticed in 4 fetuses with prenatal ultrasound in the second trimester of pregnancy,presented as enhanced renal echoes,renal pelvis separation and ectopic kidney,etc.Genetic examination showed chromosomal karyotype abnormalities in 4 fetuses,chromosomal copy number abnormalities in 8 fetuses,and genetic mutations in 2 fetuses.Conclusion The ultrasonic manifestations in the second trimester of pregnancy of fetal CKA included enhanced renal echo,renal pelvis separation and ectopic kidney,etc.Severe chromosomal or genetic abnormalities could exist even when the relative manifestations were not obvious.

Objective:To carry out prenatal screening and diagnosis for a woman with advanced maternal age.Methods:Non-invasive prenatal testing (NIPT) was carried out to determine the risk of fetal chromosome aneuploidy. Aminiocentesis was proceeded for fetal chromosomal karyotyping and copy number variation sequencing (CNV-seq). The fetus was subjected to systematic ultrasound screening in the second trimester.Results:NIPT has indicated there was a loss of fetal sex chromosome. Karotyping of the amniocyte showed a mosaic sex chromosome abnormality 45, X[53]/46, X, + mar[7]. The result of fetal DNA CNV-seq was seq[GRCh37]del(Yq11.1q12) chrY: g. 13 104 553-28 819 361del, seq[GRCh37]del(Yp11.32p11.2) chrY: g. 10 001-9 873 915del (mosaic ratio: 30%). Ultrasonography discovered that the fetus had renal dysplasia and male external genitalia. The karyotypes of the couple were both normal.Conclusion:Multiple genetic tests should be carried out for fetus with a high risk for chromosome aneuploidies signaled by NIPT. It is difficult to predict the post-natal phenotype for fetuses with mosaic sex chromosomal aneuploidies. The couple should be carefully counseled upon genetic counseling.

Objective To evaluate the efficacy and safety of Huanglian Wendan Decoction (黄连温胆汤, HLWDD) alone or combined with western medicine in treating insomnia caused by phlegm-heat internal disturbance in recent 10 years. Methods The randomized controlled trials of HLWDD alone or combined with western medicine in treating insomnia caused by phlegm-heat internal disturbance from January 1, 2012 to April 1, 2022 were searched in China National Knowledge Infrastructure (CNKI), China Science and Technology Journal Database (VIP), Wanfang Database, China BioMedical Literature Database (CBM), PubMed, Web of Science, Embase, and Cochrane Library databases. After being screening, the included literature was analyzed to evaluate the effective rate, Pittsburgh Sleep Quality Index (PSQI) score, traditional Chinese medicine (TCM) syndrome score, and adverse reactions of HLWDD on insomnia caused by phlegm-heat internal disturbance. The subgroup analyzed the effect of HLWDD after different treatment courses, and compared the therapeutic effects of HLWDD alone and HLWDD combined with western medicine. Results Twenty-seven randomized controlled trials were finally included, with a total of 2 395 patients. The results of the meta-analysis showed that the curative effect of HLWDD alone or combined with the western medicine group was better than that of the western medicine group [RR = 1.14, 95% CI (1.06, 1.22), P = 0.000]. The PSQI score [SMD = – 0.31, 95% CI (– 0.42, – 0.20), P = 0.000], TCM syndrome score [SMD = – 0.40, 95% CI (– 0.67, – 0.12), P = 0.005], and adverse reaction rate [RR = 0.21, 95% CI (0.15, 0.29), P = 0.000] of HLWDD alone or combined with western medicine group were significantly reduced compared with the western medicine group. The subgroup’s analysis showed that the curative effect of HLWDD alone or combined with western medicine group of 4 weeks treatment course was better than that of the western medicine group [RR = 1.14, 95% CI (1.03, 1.26), P < 0.05]. The TCM syndrome score of HLWDD alone or combined with the western medicine group of 4 weeks treatment course decreased more obviously than that of the western medicine group [SMD = – 0.60, 95% CI (– 0.96, – 0.25), P < 0.05]. There were no significant differences between HLWDD alone or combined with western medicine group and western medicine group with different treatment courses based on PSQI score and adverse reaction rate. Based on the effective rate, the comparison between the HLWDD alone group and the western medicine group [RR = 1.09, 95% CI (1.00, – 1.20) P < 0.05], and between the HLWDD combined with western medicine group and the western medicine group [RR = 1.15, 95% CI (1.03, 1.29), P < 0.05] was the same. PSQI score [SMD = – 0.44, 95% CI (– 0.59, – 0.30), P < 0.05] and TCM syndrome score [SMD = – 1.10, 95% CI (– 1.59, – 0.61), P < 0.05] of HLWDD combined with western medicine group were significantly lower than those of the western medicine group. There were no significant differences of adverse reaction rate between HLWDD alone group [RR = 0.08, 95% CI (0.04, 0.17), P < 0.05] and HLWDD combined with western medicine group [RR = 0.36, 95% CI (0.24, 0.53), P < 0.05]. Conclusion HLWDD alone or combined with western medicine is an effective treatment for insomnia caused by phlegm-heat internal disturbance, which has a high effective rate, significantly reduced PSQI score and TCM syndrome score, and favorable safety. The best course of treatment is 4 weeks.

ObjectiveTo describe the incidence and distribution characteristics of congenital heart disease in newborns， and to analyze the trend of the notification rate from 2009 to 2018 in Chongming District， Shanghai. MethodsBased on the shanghai birth defects surveillance system， newborns delivered in all medical institutions in Chongming District from 2009 to 2018 were examined for congenital heart disease at birth and followed up to 42 days. The notification rate and trends of various congenital heart diseases were described. ResultsThere were 548 cases of neonatal congenital heart disease in Chongming District from 2009 to 2018， and the notification rate was 20.11‰ （95%CI： 18.47‰-21.85‰）， with statistically significant differences between years during the study period （Z=10.616， P<0.001）. The four most common types of congenital heart disease were patent ductus arteriosus （313， 11.49%）， patent foramen ovale （312， 11.45%）， atrial septal defect （88， 3.64%） and ventricular septal defect （73， 2.68%）. Majority of the congenital heart disease cases were patent ductus arteriosus and patent foramen ovale that could be further closed during growth and development. Isolated patent ductus arteriosus and isolated patent foramen ovale accounted for 18.61% and 23.18% respectively of the total cases. ConclusionThe notification rate of congenital heart disease in Chongming District shows a trend of fluctuating decline followed by an increase. Community follow-up and outcome tracking should be strengthened for children with congenital heart disease， especially those with patent ductus arteriosus or patent foramen ovale.

Objective:To explore the effects of perioperative comprehensive nursing program on the postoperative management of patients with low-grade glioma in sports area and epilepsy.Methods:Totally 130 patients with low-grade glioma in sports areas and epilepsy who chose to undergo craniotomy at the No.12 Ward Department of Neurosurgery in Beijing Tiantan Hospital, Capital Medical University from May 2018 to April 2019 were selected and divided into the observation group ( n=74) and the control group ( n=56) according to the admission time. Patients in the observation group adopted the comprehensive nursing program, while patients in the control group received routine care. Skin redness events, falls/falling out of bed, average length of hospital stay and patient satisfaction of the two groups of patients were observed and statistically analyzed. Results:The incidence of skin redness in the observation group was lower than that in the control group (4.05% vs. 16.07%, P=0.030) ; the incidence of falls/falling out of bed in the observation group was lower than that in the control group (2.70% vs. 12.50%, P=0.015) ; the average length of hospital stay in the observation group was lower than that in the control group [ (7.6±0.3) vs. (11.3±0.5) d, P< 0.01]; and the differences were all statistically significant. Conclusions:Comprehensive nursing can reduce the incidence of skin redness and falls/falling out of bed events in patients with low-grade glioma in sports areas and epilepsy, shorten their average postoperative hospital stay, and improve their satisfaction.