OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

An 87-year-old female patient went to a hospital in Nanshan District on July 18, 2023 because of "vomiting and diarrhea for 2 days". She lived in a nursing home, where 43 similar cases were found within 8 days, including 31 elderly people and 12 caregivers. On July 23, 2023, 13 anal swab samples of the elderly patients were collected, to further find the source of infection, 89 anal swab samples of related nursing assistants and 9 environmental swab samples were collected at the same time. The pathogen was identified by reverse transcription polymerase chain reaction, a total of 22 out of 102 anal swab specimens were positive for Norovirus GⅡ, and the positive rate was 12/13 in the elderly people and 11.23% (10/89) in the caregivers, and one norovirus GⅡ positive sample among 9 environmental smear samples. The polymerase region and partial gene sequences of the capsid VP1 region were amplified and sequenced for the Norovirus-positive specimens, among which 20 strains were successfully sequenced and showed GⅡ.4[P16] under the Norovirus online typing tool. The sequences of 11 elderly people were highly homologous to those of 9 caregivers, with a homology of 95% in the polymerase region and 99% in the capsid VP1 region, which had sequence homology of 99% compared with the Genbank reference sequences of OP009779 (2022 Chengdu strain), OQ930719 (2023 Nanjing strain), and OL336359 (2021 Beijing strain).

An 87-year-old female patient went to a hospital in Nanshan District on July 18, 2023 because of "vomiting and diarrhea for 2 days". She lived in a nursing home, where 43 similar cases were found within 8 days, including 31 elderly people and 12 caregivers. On July 23, 2023, 13 anal swab samples of the elderly patients were collected, to further find the source of infection, 89 anal swab samples of related nursing assistants and 9 environmental swab samples were collected at the same time. The pathogen was identified by reverse transcription polymerase chain reaction, a total of 22 out of 102 anal swab specimens were positive for Norovirus GⅡ, and the positive rate was 12/13 in the elderly people and 11.23% (10/89) in the caregivers, and one norovirus GⅡ positive sample among 9 environmental smear samples. The polymerase region and partial gene sequences of the capsid VP1 region were amplified and sequenced for the Norovirus-positive specimens, among which 20 strains were successfully sequenced and showed GⅡ.4[P16] under the Norovirus online typing tool. The sequences of 11 elderly people were highly homologous to those of 9 caregivers, with a homology of 95% in the polymerase region and 99% in the capsid VP1 region, which had sequence homology of 99% compared with the Genbank reference sequences of OP009779 (2022 Chengdu strain), OQ930719 (2023 Nanjing strain), and OL336359 (2021 Beijing strain).

ObjectiveTo observe the pharmacodynamic effects of Cinnamomi Cortex on the incretin effect in the rat model of diabetes mellites （DM） induced by streptozotocin （STZ） and explore the underlying mechanism from glucagon-like peptide-1 （GLP-1） and dipeptidyl peptidase-4 （DPP-4）. MethodForty SD rats were randomly assigned into blank， model， sitagliptin （0.1 g·kg^-1）， and low- and high-dose Cinnamomi Cortex （0.45 and 0.9 g·kg^-1， respectively） groups. The DM rat model was established by a high-fat diet combined with intraperitoneal injection of 40 mg·kg^-1 STZ in other groups except the blank group. The intervention lasted for 8 weeks. The status， body weight， water intake， food intake， and fasting blood glucose （FBG） of the rats were observed and determined. Hematoxylin-eosin staining was employed to reveal the pathological changes of the pancreas， and immunohistochemistry to detect the expression of glucagon in the pancreas. Biochemical assay was employed to measure the serum levels of lipid metabolism indexes such as total cholesterol （TC）， triglyceride （TG）， low-density lipoprotein （LDL）， and high-density lipoprotein （HDL）. Enzyme-linked immunosorbent assay was employed to determine the levels of glycosylated hemoglobin， insulin， glucagon， GLP-1， and glucose-dependent insulinotropic polypeptide （GIP） in rat serum， and Western blot to determine the protein levels of GLP-1 and DPP-4 in the pancreas. ResultAfter 8 weeks of intervention， the model group showed higher body weight， FBG， TC， TG， LDL， glycosylated hemoglobin， glucagon， insulin， and insulin resistance index and lower HDL， GLP-1， and GIP than the blank group （P<0.05， P<0.01）. The Cinnamomi Cortex groups showed lower body weight， FBG， TC， TG， LDL， glycosylated hemoglobin， glucagon， insulin， and insulin resistance index and higher HDL， GLP-1， and GIP than the model group （P<0.05， P<0.01）. The Cinnamomi Cortex groups showed recovered morphology of islet cells and no nucleus aggregation. Compared with the model group， the Cinnamomi Cortex groups showed declined levels of glucagon in the center of islet cells. Compared with the blank group， the model group showed up-regulated protein level of DPP-4 and down-regulated protein level of GLP-1 （P<0.01）. Compared with the model group， the high-dose Cinnamomi Cortex groups showed down-regulated protein level of DPP-4 and up-regulated protein level of GLP-1 （P<0.05）. ConclusionCinnamomi Cortex may reduce blood glucose and improve incretin effect to lower the blood glucose level by regulating DPP-4 and GLP-1 in DM rats.

Objective To explore the clinical efficacy of indwelling suture in preventing re-adhesion of fallopian tube after fallopian tube recanalization(FTR). Methods Screen 93 patients with fallopian tube obstruction and FTR indications of prospective, the patients without other interference factors of infertility, they were randomized with random sampling into two groups (treatment group 50 and control group 43)and treated by FTR,then the treatment group with indwelling sutures in fallopian tube for 3 days, the control group were infused lipiodol into the tube and with a intrauterine cavity perfusion in 3 days. The two groups received followed up examination at 2,6 months after operation ( a treatment was repeated with the case of re-obstruction) . Follow-up for 12 months to appraise the pregnancy rate and the influence of pregnancy competence of tube with indwelling suture(6 months after operation, to collect and compare the pregnancy rate and ectopic pregnancy rate of patent tube in two groups). Results The tubal patency rate were 89.8%(53/59),89.5%(51/57)of treatment group at 2,6 months after operation and the control group were75.9%(44/58),75.0%(39/52), there was a significant difference between the two groups(2 m:χ2=4.027, P<0.05;6 m:χ2=3.958,P<0.05). One year after operation,the pregnancy rate of treatment group was 43.2%(16/37) , the control group was 20.6%(7/34) ,there was a significant difference(χ2=4.152,P<0.05). Six
months after operation, the pregnancy rate and ectopic pregnancy rate of patent tube in treatment group were 21.6%(11/51),2/11, the control group were15.4%(6/39),1/6, there was no significant difference between them(pregnancy rate:χ2=0.552,P>0.05). Conclusions The indwelling suture of fallopian tube can prevent re-adhesion better after FTR, then improve the long-term recanalization rate and the pregnancy rate. There is no change on the pregnancy competence of fallopian tube.

Objective To evaluate the clinical efficacy of interventional techniques in the diagnosis and therapy of Dieulafoy disease. Methods A retrospective study was performed, including 17 patients with massive upper gastrointestinal hemorrhage (patients without peptic ulcer and portal hypertension or diagnosed with Dieulafoy disease by endoscopic examination). All patients had both DSA and interventional embolization treatment, and were followed for 12 months to appraise the clinical effectiveness. Results Sixteen patients were diagnosed as Dieulafoy disease by using DSA. Fifteen of the 16 patients were treated with embolization successfully withoutserious complications. One patient received subtotal gastrectomy because of upper gastrointestinal hemorrhage recurrence. Nine patients with irregular upper abdominal pain and burning sensation had complete remission after symptomatic management. Fifteen patients who had embolization showed no serious complications during the follow-up period of 12 months, there was no hematemesis and melena for the 15 cases with successful embolization. Conclusion The angiography and embolization are safe and efficacious in the diagnosis and therapy of Dieulafoy disease.

Objectives To investigate factors affecting neonate birth weight. Methods Random cluster sampling method was adopted to investigate the physical development of 5539 single live newborns in Beijing, Harbin, Changsha, and Guang-zhou. Single factor analysis and logistic regression analysis were used to find the factors influencing neonate birth weight. Re-sults Single factor analysis showed that neonatal sex, gestational age, maternal age, maternal pre-pregnancy BMI, gestational weight gain, mother's education and occupation have effects on neonatal birth weight. Risk factors for macrosomia, including male fetus, maternal age≥25 years before pregnancy, maternal pre-pregnancy BMI≥24 kg/m2, gestational weight gain greater than 12.5 kg, and preterm delivery and maternal pre-pregnant BMI<18.5 kg/m2 are the risk factors of low birth weight. Conclu-sions Premature, excessive weight gain during pregnancy, high or low maternal pre-pregnancy BMI are main factors that caused abnormal body mass in neonates.

Objective To learn the change trend of live newborn birth condition from 1987 to 2011 in Hongjiang people′s hospi-tal .Methods Cluster sampling was adopted and altogether 2 711 singleton live newborns in 1987 ,1995 ,2005 ,2011 year were retro-spectively analyzed .Results From 1987 to 2011 ,the birth weight changes of live newborn overall showed an increasing trend .The sex ratio of birth appeared rising after 1995 ,especially apparent in parous wowen and rural areas .Incidence of macrosomia showed an increasing trend ,the post-term infant delivery rate decreased after 1995 .Low birth weight infant and premature infant birth rate trend was not obvious .Conclusion 25 years in Hongjiang people`s hospital ,the overall trend of live newborn birth outcomes is good which prompts that the quality of perinatal care in the hospital is improved .In the future ,the perinatal health care should focuse on taking effective comprehensive measures to control the growth of the birth sex ratio and the incidence of macrosomia .

Objective To understand the birth conditions of newborns in four cities of China and its trend. Methods The physical development data of single live newborns in 4 cities of Beijing, Harbin, Changsha and Guangzhou were investi-gated by random cluster sampling method, and was compared with the national neonatal growth standard developed from the investigation in 15 cities from 1986 to 1987. Results The study investigated a total of 5 539 newborns:1 412 in Beijing, 1 410 in Harbin, 1 274 in Changsha and 1 443 in Guangzhou. Except for the head circumference of male newborns, the weight, height and head circumference of full-term newborns in four cities in 2012 were all more than the national neonatal growth standard of 1986-1987 (P<0.05). Compared with the data obtained from 1986-1987, the sex ratio and the prevalence of macrosomia and premature were higher, but the rates of post-term delivery and low birth weight were lower (P<0.01). Conclusions The new-borns in four cities of China are in good condition during recent 25 years. More attention should be paid to improve the birth sex ratio and to decrease rates of macrosomia and premature.

Objective:To study the effect of applying different teaching methods about mechanism of labor.Methods:Selecting the second class of nursing speciality as a experiment group,the third class as a control group.Results:The experiment group's records was highter than the control group's,the differences between the two groups were statistically significant(P