Objective:To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.Methods:A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree. Peripheral blood samples from the parents, amniotic fluid from the fetus, and peripheral blood sample from the neonate were obtained. Genetic testing was carried out by using G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) technology. Relevant literature was searched in the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases to summarize the clinical phenotypes of patients with 11q partial duplication. This study was approved by the Medical Ethics Committee of Wenzhou Central Hospital (Ethics No. L2024-07-080).Results:The pregnant woman (G 3) had a history of adverse pregnancy outcomes. During her first pregnancy (G 1), prenatal ultrasound indicated intrauterine growth restriction and a Dandy-Walker variant. Follow-up at 8 years of age showed developmental delays and mild intellectual disability. During her second pregnancy (G 2), prenatal ultrasound revealed nasal bone hypoplasia, and the pregnancy was terminated at 23rd gestational week. During her third pregnancy (G 3), all prenatal tests were normal, and the neonate showed normal growth and development at 4 months of age. The karyotype of amniotic fluid of her first pregnancy was 46, X? , and the SNP-array analysis of neonatal peripheral blood showed arr[GRCh37/hg19]11q13.4q25(70432450_134607121)×2~3, with a mosaicism rate being approximately 40%. The karyotype for her second pregnancy was 46, X? , rec(11)dup(11q)inv(11)(p15q13)dmat[6]/46, X? [27], and the SNP-array result was arr[GRCh38]11q13.4q25(71406636_135067522)×2~3, with a mosaicism rate being approximately 75%. The karyotype for her third pregnancy was 46, X? , inv(11)(p15q13)mat, and the SNP-array result was arr(XN)×1, (1~22)×2. The karyotype of the woman was 46, XX, inv(11)(p15q13), and that of her husband was 46, XY. A review of 12 similar cases (including G 1) from the literature revealed that the common clinical phenotypes of 11q partial duplication included intellectual disability (12/12), developmental delay (12/12), ear abnormalities (12/12), microcephaly (10/12), seizures (8/12), hypotonia (8/12), and congenital heart malformations (7/12). Conclusion:Mosaic partial duplication of 11q may underlie the genetic etiology of this pedigree. The pregnant woman is a carrier of an inversion on chromosome 11, which might have formed the mosaic 11q partial duplication through meiotic errors and mitotic trisomy rescue mechanisms during reproduction.

OBJECTIVE: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms. METHODS: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree. Peripheral blood samples from the parents, amniotic fluid from the fetus, and peripheral blood sample from the neonate were obtained. Genetic testing was carried out by using G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) technology. Relevant literature was searched in the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases to summarize the clinical phenotypes of patients with 11q partial duplication. This study was approved by the Medical Ethics Committee of Wenzhou Central Hospital (Ethics No. L2024-07-080). RESULTS: The pregnant woman (G₃) had a history of adverse pregnancy outcomes. During her first pregnancy (G₁), prenatal ultrasound indicated intrauterine growth restriction and a Dandy-Walker variant. Follow-up at 8 years of age showed developmental delays and mild intellectual disability. During her second pregnancy (G₂), prenatal ultrasound revealed nasal bone hypoplasia, and the pregnancy was terminated at 23rd gestational week. During her third pregnancy (G₃), all prenatal tests were normal, and the neonate showed normal growth and development at 4 months of age. The karyotype of amniotic fluid of her first pregnancy was 46,X?, and the SNP-array analysis of neonatal peripheral blood showed arr[GRCh37/hg19]11q13.4q25(70432450_134607121)×2~3, with a mosaicism rate being approximately 40%. The karyotype for her second pregnancy was 46,X?,rec(11)dup(11q)inv(11)(p15q13)dmat[6]/46,X?[27], and the SNP-array result was arr[GRCh38]11q13.4q25(71406636_135067522)×2~3, with a mosaicism rate being approximately 75%. The karyotype for her third pregnancy was 46,X?,inv(11)(p15q13)mat, and the SNP-array result was arr(XN)×1,(1~22)×2. The karyotype of the woman was 46,XX,inv(11)(p15q13), and that of her husband was 46,XY. A review of 12 similar cases (including G₁) from the literature revealed that the common clinical phenotypes of 11q partial duplication included intellectual disability (12/12), developmental delay (12/12), ear abnormalities (12/12), microcephaly (10/12), seizures (8/12), hypotonia (8/12), and congenital heart malformations (7/12). CONCLUSION Mosaic partial duplication of 11q may underlie the genetic etiology of this pedigree. The pregnant woman is a carrier of an inversion on chromosome 11, which might have formed the mosaic 11q partial duplication through meiotic errors and mitotic trisomy rescue mechanisms during reproduction.
Adult ; Female ; Humans ; Male ; Pregnancy ; China ; Chromosome Duplication ; Chromosomes, Human, Pair 11/genetics* ; East Asian People/genetics* ; Karyotyping ; Mosaicism ; Pedigree ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis

Objective:To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.Methods:A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree. Peripheral blood samples from the parents, amniotic fluid from the fetus, and peripheral blood sample from the neonate were obtained. Genetic testing was carried out by using G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) technology. Relevant literature was searched in the CNKI, Wanfang Data Knowledge Service Platform, and PubMed databases to summarize the clinical phenotypes of patients with 11q partial duplication. This study was approved by the Medical Ethics Committee of Wenzhou Central Hospital (Ethics No. L2024-07-080).Results:The pregnant woman (G 3) had a history of adverse pregnancy outcomes. During her first pregnancy (G 1), prenatal ultrasound indicated intrauterine growth restriction and a Dandy-Walker variant. Follow-up at 8 years of age showed developmental delays and mild intellectual disability. During her second pregnancy (G 2), prenatal ultrasound revealed nasal bone hypoplasia, and the pregnancy was terminated at 23rd gestational week. During her third pregnancy (G 3), all prenatal tests were normal, and the neonate showed normal growth and development at 4 months of age. The karyotype of amniotic fluid of her first pregnancy was 46, X? , and the SNP-array analysis of neonatal peripheral blood showed arr[GRCh37/hg19]11q13.4q25(70432450_134607121)×2~3, with a mosaicism rate being approximately 40%. The karyotype for her second pregnancy was 46, X? , rec(11)dup(11q)inv(11)(p15q13)dmat[6]/46, X? [27], and the SNP-array result was arr[GRCh38]11q13.4q25(71406636_135067522)×2~3, with a mosaicism rate being approximately 75%. The karyotype for her third pregnancy was 46, X? , inv(11)(p15q13)mat, and the SNP-array result was arr(XN)×1, (1~22)×2. The karyotype of the woman was 46, XX, inv(11)(p15q13), and that of her husband was 46, XY. A review of 12 similar cases (including G 1) from the literature revealed that the common clinical phenotypes of 11q partial duplication included intellectual disability (12/12), developmental delay (12/12), ear abnormalities (12/12), microcephaly (10/12), seizures (8/12), hypotonia (8/12), and congenital heart malformations (7/12). Conclusion:Mosaic partial duplication of 11q may underlie the genetic etiology of this pedigree. The pregnant woman is a carrier of an inversion on chromosome 11, which might have formed the mosaic 11q partial duplication through meiotic errors and mitotic trisomy rescue mechanisms during reproduction.

OBJECTIVE To investigate the effect of pharyngeal cavity and genoglossus muscle exercises in patients with mild obstructive sleep apnea syndrome(OSAHS)left over after palatopharyngoplasty with diastolic cardiac dysfunction.METHODS A total of 75 patients with mild OSAHS left after palatopharyngoplasty with diastolic cardiac dysfunction from January 2021 to August 2023 were selected for retrospective study.Among them,37 patients underwent pharyngeal cavity and mentoglossum muscle exercise(observation group),while 38 patients did not(control group).Using postoperative data as baseline value.mean blood oxygen saturation(MSpO2),lowest oxygen saturation(LSpO2),sleep efficiency,apnea index(AI),sleep latency,apnea hypopnea index(AHI),hypopnea index(HI),microarousal index(MAI),rapid eye movement latency,arterial blood pressure of carbon dioxide(PaCO2),pH,arterial partial oxygen pressure(PaO2),left ventricular end-systolic diameter(LVDs),blood lactic acid,left ventricular ejection fraction(LVEF),Tei index,left ventricular end-diastolic diameter(LVDd),daytime Epworth sleepiness scale(ESS)score,Pittsburgh sleep quality index(PSQI)score and incidence of adverse cardiovascular events(MACE)were compared at baseline and 3 months later.RESULTS After 3 months,AHI,HI and AI in observation group were lower than those in control group,and MSpO2 and LSpO2 were higher than those in control group(P<0.05);Sleep efficiency of observation group was higher than control group,daytime ESS score,PSQI score and MAI were lower than control group(P<0.05).There were no significant differences in PaCO2,LVDd,PaO2,blood lactic acid,sleep latency,pH,LVEF,rapid eye movement latency,LVDd,Tei index between the observation group and the control group(P>0.05).The incidence of MACE in the observation group was 5.41%(2/37),compared with 13.16%(5/38)in the control group,there was no significant difference(P>0.05).CONCLUSION In patients with mild OSAHS left after palatopharyngoplasty with diastolic cardiac dysfunction,the exercise of pharyngeal cavity and genoglossus can improve hypopnea,alleviate clinical symptoms and improve sleep quality,but it has limited effect on the improvement of cardiac function.

Anxiety is a major mood disorder, and the high morbidity, co-morbidity and disability of anxiety disorders seriously affect people's quality of life, so the importance and urgency of research on anxiety cannot be overstated. Animal models are the main carriers for studying the mechanism of disease occurrence and development, drug efficacy evaluation and drug development.Unconditioned anxiety model is a common anxiety model.Elevated plus maze test, open field test and light-dark box test are widely accepted paradigms for the detection of unconditioned anxiety.This kind of behavioral paradigm based on environmental exposure takes advantage of the conflict between curiosity and fear of the unfamiliar environment to simulate and detect the anxiety of animals.However, the validity of these behavioral paradigms for evaluating anxiety in animals is questionable.In this paper, we discuss the concept of anxiety, the definition of anxiety behavior in the behavioral test of unconditioned anxiety, and the factors to be considered in the test of unconditioned anxiety behavior.On this basis, new solutions were proposed to the contradictions and blind spots in order to improve the test paradigm of anxiety behavior and provide a more reliable animal model for the evaluation of anxiety.This paper presents a new approach to address the contradictions and blind spots of this paradigm.

China’s chronic disease management suffers from problems such as unclear institutional function， insufficient information technology application， and weak regulation support. On the basis of current chronic disease management condition in China， this paper proposes to apply the concept of “people-centered” integrated health management to community chronic disease management and discusses the content and procedure of establishing an integrated community-based chronic disease management model driven by massive databases. The model innovatively combines technology integration， data integration and service integration， and can accurately and efficiently realize the "people-centered" full-course health management of various chronic diseases. Shanghai has provided integrated community-based chronic disease management service for 1.98 million citizens through applying this model. The model warrants further effectiveness and economic evaluation. This study provides precious experience for the development of chronic disease prevention and treatment in China.

Objective: To investigate the prevalence and risk factors of dyslipidemia among residents in Haining City, Zhejiang Province, so as to provide into the management of dyslipidemia. Methods: Totally 1 953 residents at ages of 15 to 69 years were recruited using a multi-stage stratified cluster sampling method in 5 townships (streets) of Hainan City. Subjects' demographic features, smoking status, alcohol consumption, family history of diseases and development of chronic diseases were collected. The height, body weight, waist circumstance and blood pressure were measured, and the fasting blood glucose, serum uric acid and blood lipid levels were determined. The prevalence of dyslipidemia was analyzed and standardized by the 7th population census data. The factors affecting dyslipidemia were identified using a multivariable logistic regression model. Results: Totally 1 893 valid questionnaires were recovered. The respondents included 949 males (50.13%) and 944 females (49.87%), and had a mean age of (47.90±14.34) years. A total of 513 participants were detected with dyslipidemia, and the prevalence and standardized prevalence of dyslipidemia were 27.10% and 27.01%, respectively. The prevalence of hypertriglyceridemia, hypercholesterolemia, hyperlipoproteinemia and hypolipoproteinemia was 16.53%, 3.22%, 1.74% and 15.27%, respectively. Multivariate logistic regression analysis showed that male (OR=1.571, 95%CI: 1.268-1.947), family history of stroke (OR=1.645, 95%CI: 1.192-2.270), hyperuricemia (OR=1.809, 95%CI: 1.370-2.388), central obesity (OR=1.423, 95%CI: 1.066-1.900), obesity (OR=1.736, 95%CI: 1.335-2.257), underweight (OR=0.171, 95%CI: 0.049-0.593) significantly correlated with dyslipidemia. Conclusions The prevalence of dyslipidemia is lower than the national level among residents at ages of 15 to 69 years in Haining City, and hypertriglyceridemia and hypolipoproteinemia are predominant types of dyslipidemia. Male, obesity, family history of stroke and hyperuricemia are risk factors of dyslipidemia.

Objective To evaluate the effect of limited open reduction in the treatment of femoral shaft fractures with intramedullary nail.Methods The clinical data of 39 patients with femoral shaft fractures in the Department of Orthopedic Surgery,Southern Medical University Xiaolan Affiliated Hospital from January 2016 to December 2017 were retrospectively analyzed.All patients were treated with intramedullary nailing.Among them,25 cases were treated with limited open reduction (observation group) and 14 cases were treated with closed reduction (control group).The operation time,fluoroscopy frequency,blood loss volume,infection rate and curative effect were compared between 2 groups.Results The 39 patients were followed up for 7 to 25 (10.3 ± 2.8) months.The operation time and fluoroscopy frequency in observation group were significantly lower than those in control group:(111.4 ± 20.3) min vs.(129.3 ± 21.4) min and (7.0 ± 2.6) times vs.(22.6 ± 7.8) times,but the blood loss volume was significantly higher than that in control group:(454.0 ± 131.4) ml vs.(342.9 ± 120.7) ml,and there were statistical differences (P＜0.05 or ＜0.01);there was no statistical difference in the infection rate and excellent/ good rate between 2 groups (P＞0.05).Conclusions Limited open reduction simplifies the operation steps,shortens the operation time,and has fewer fluoroscopy times and less X-ray time.It can achieve the same effect as closed reduction,and can be used as an effective supplementary means when closed reduction equipment and technology are deficient.

Objective To explore the effect of advanced hierarchical training based on Benner theory on nurses' core competence and post competency. Methods A total of 499 nurses were selected to participat in the training from January 2016 to December 2017. They were divided into before-training group and after- training group, the training method was based on the advanced hierarchical training model of energy level under the guidance of Benner′ s theory.The nurse′ s core competence, post competency, and nursing satisfaction were compared. Results The ratings of nurses′ critical thinking and research, clinical nursing, ethics and legal practice, professional development and education consultation (34.21±4.56), (30.12±5.25), (27.12±5.24), (25.46±4.52), (26.24±4.21), (20.21±3.56), (23.12± 5.24) points in after-training group were significantly higher than in before-training group (28.36±4.12), (26.45±4.52), (26.72±4.52), (25.12±4.12), (24.50±3.25), (18.65±3.12), (20.24±4.65) points (t=7.308-21.264, P<0.05 or 0.01). The scores of nurses' professional knowledge, professional skills, professional ability, and overall quality (72.32 ± 9.21),(93.24 ± 12.35), (43.34 ± 4.12), (54.20 ± 4.23) points were significantly higher than before training (68.25±8.32), (86.42±10.21), (41.05±5.24), (52.12±5.25) points (t=6.892-9.507, P<0.05 or 0.01), and patient satisfaction 92.67％(12164/13126) was significantly higher than before training 88.68％ (11106/12524) (χ2=121.409, P<0.01). Conclusion The advanced level-stratified training model based on Benner theory is helpful to promote the development of nurses′ core competence and post competency, and improve patient satisfaction.

Objective To study the existence and significance of cholesterol-intestinal hepatic circulation in rabbits by establishing a model of enterohepatic circulation and blocking enterohepatic circulation. Methods In this experiment, the experimental group and the control group were set up to conduct high-cholesterol diets and ordinary diets for differential feeding. By establishing a model of enterohepatic circulation and blocking enterohepatic circulation, cholesterol oxidase method was used to measure serum cholesterol concentration in the experimental group and the control group respectively. Based on the statistical analysis of the data for 6 months, the phenomenon of enterohepatic circulation of cholesterol was studied. Results Based on the data of 6 months, the serum cholesterol concentrations of rabbits in groups Aand Cwere gradually increased. After two months, the hypercholesterolemia was significant in the rabbits in group C. The increase degree of serum cholesterol concentration in the rabbits in group Awas weaker than that in group C. Hypercholesterolemia had no obvious effect. There was statistically significant difference between group Aand group C (P＜0. 05); serum cholesterol concentration in rabbits in group Dwas increased slightly, but the increase was not significant. The increase of serum cholesterol concentration in group Bwas more significant than that of group D. There was a statistically significant difference between group Band group D (P＜0. 05). The serum TC-time line graph was plotted with the serum cholesterol concentration in each group as the ordinate and the time as the abscissa. Compared with group A, the serum cholesterol was increased significantly in group C. Compared with group D, the serum cholesterol in group Bwas increased significantly. Conclusion This experiment shows that the cholesterol enterohepatic circulation phenomenon exists in rabbits. By blocking the enterohepatic circulation in rabbits, it has a certain effect on lowering the content of serum cholesterol in rabbits. This will provide a theoretical basis for further studying the role of blocking enterohepatic circulation in reducing cholesterol levels in the body. It provides new ideas for the clinical treatment of hypercholesterolemia by blocking the cholesterol enterohepatic circulation in clinical practice and points a direction for drug development.