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1.
Chinese Journal of Surgery ; (12): 675-680, 2023.
Article in Chinese | WPRIM | ID: wpr-985797

ABSTRACT

Objective: To explore the long-term effect of combined surgery for the treatment of congenital tibial pseudarthrosis in children. Methods: The clinical data of 44 children with congenital tibial pseudarthrosis who underwent combined surgery (tibial pseudarthrosis tissue resection, intramedullary rod fixation, wrapped autologous iliac bone graft, Ilizarov external fixator fixation) from August 2007 to October 2011 at the Department of Pediatric Orthopedics, Hunan Children's Hospital were collected. There were 33 males and 11 females. The age at the time of surgery was (3.7±2.2)years (range:0.6 to 12.4 years), including 25 cases under 3 years old and 19 cases above 3 years old.Among them, 37 cases were complicated with neurofibromatosis type 1.The operation status, postoperative complications and follow-up results were recorded. Results: The follow-up time after surgery was (10.9±0.7)years (range:10 to 11 years).Thirty-nine out of 44 patients (88.6%) achieved initial healing of tibial pseudarthrosis, with an average healing time of (4.3±1.1)months (range:3 to 10months).In the last follow-up, 36 cases (81.8%) had unequal tibial length, 20 cases (45.4%) had refractures, 18 cases (40.9%) had ankle valgus, 9 cases (20.4%) had proximal tibial valgus, and 11 cases (25.0%) had high arched feet.Nine cases (20.4%) developed distal tibial epiphyseal plate bridging.17 cases (38.6%) had abnormal tibial mechanical axis.Seven cases (15.9%) developed needle infection, and one case (2.3%) developed tibial osteomyelitis. 21 patients (47.7%) had excessive growth of the affected femur.Five patients (11.3%) had ankle stiffness, and 34 patients (77.2%) had intramedullary rod displacement that was not in the center of the tibial medullary cavity.Among them, 8 cases (18.1%) protruded the tibial bone cortex and underwent intramedullary rod removal.18 children have reached skeletal maturity, while 26 children have not been followed up until skeletal maturity. Conclusion: Combined surgery for the treatment of congenital pseudarthrosis of the tibia in children has a high initial healing rate, but complications such as unequal tibia length, refracture, and ankle valgus occur during long-term follow-up, requiring multiple surgical treatments.

2.
International Eye Science ; (12): 256-260, 2023.
Article in Chinese | WPRIM | ID: wpr-960947

ABSTRACT

AIM: To analyze the changes of serum homocysteine(Hcy), vitamin B12(VitB12)and folic acid in the serum of patients with diabetic retinopathy(DR), and to explore their significance in the occurrence and development of DR.METHODS: A case-control study was designed. A total of 95 patients with DR(DR group), 94 patients with diabetes mellitus(DM group)treated in endgcrinology department and 87 patients with age-related cataract(normal control group)from the ophthalmology department of Shenzhen People's Hospital between July 2021 and January 2022 were selected. Fasting venous blood was collected and serum was separated. The concentration of Hcy in serum was detected by enzyme linked immunosorbent assay(ELISA), and chemiluminescence immunoassay was used to detect the concentration of VitB12 and folic acid. Pearson linear correlation analysis was used to evaluate the correlation between Hcy and clinical parameters. Multivariate linear regression analysis was used to evaluate the main factors which affect Hcy level. Receiver operating characteristic(ROC)curve was designed to analyze the diagnostic value of serum Hcy, VitB12 and folic acid in DR.RESULTS: The concentration of serum Hcy in DR group was 16.52±3.54 μmol/L, which was significantly higher than that in DM group(10.86±3.47 μmol/L)and control group(6.84±1.39 μmol/L; all P<0.05); The concentration of VitB12 in the serum of the control group was 501.79±108.95 pmol/L, which was higher than that in DM group(478.57±57.85 pmol/L)and DR group(455.88±181.49 pmol/L), but the difference was not statistically significant(P=0.054); The concentration of folic acid in serum of control group was 10.31±2.43 nmol/L, which was higher than that of DM group(9.94±1.90 nmol/L)and DR group(7.27±2.79 nmol/L), and the difference between DR group and DM group was statistically significant(P<0.05); In DR group, Hcy expression was weakly positively correlated with triglyceride and low density lipoprotein(r=0.208, P=0.043; r=0.240, P=0.019). Multivariate linear regression showed that low density lipoprotein was an important factor which affect the expression of Hcy in DR patients. ROC curve shows that Hcy has important value in the diagnosis of DR.CONCLUSIONS: Hcy, VitB12 and folic acid are differentially expressed in DR group, DM group and normal control group. Hcy may be involved in the pathogenesis of DR, and it has important value in the diagnosis of DR. In addition, low density lipoprotein is also an important factor which affects the expression of Hcy.

3.
Chinese Acupuncture & Moxibustion ; (12): 135-140, 2023.
Article in Chinese | WPRIM | ID: wpr-969961

ABSTRACT

OBJECTIVE@#To observe the effect of transcutaneous electrical acupoint stimulation (TEAS) combined with electroacupuncture (EA) on rehabilitation after abdominal surgery.@*METHODS@#A total of 320 patients undergoing abdominal surgery were randomly divided into a combination group (80 cases), a TEAS group (80 cases, 1 case discontinued), an EA group (80 cases, 1 case discontinued) and a control group (80 cases, 1 case discontinued). The patients in the control group received enhance recovery after surgery (ERAS) standardized perioperative management. On the basis of the treatment in the control group, the TEAS group was treated with TEAS at Liangmen (ST 21) and Daheng (SP 15); the EA group was treated with EA at Neiguan (PC 6), Hegu (LI 4), Zusanli (ST 36), Shangjuxu (ST 37) and Xiajuxu (ST 39); the combination group was treated with TEAS combined with EA, with continuous wave, 2-5 Hz in frequency, and the intensity was tolerable to the patients, 30 min each time, once a day, from the first day after surgery, until the anus resumed spontaneous defecation and the oral intake of solid food was tolerated. The gastrointestinal-2 (GI-2) time, first exhaust time, first defecation time, first tolerance of oral intake of solid food time, time of first get out of bed and hospital stay were observed in all the groups; the pain visual analogue scale (VAS) score and incidence rates of nausea and vomiting 1, 2, 3 days after surgery were compared in all the groups; after treatment, the acceptability of each treatment was evaluated by patients in each group.@*RESULTS@#Compared with the control group, the GI-2 time, first exhaust time, first defecation time, first tolerance of oral intake of solid food time were shortened (P<0.05), the VAS scores 2, 3 days after surgery were decreased (P<0.05) in the combination group, the TEAS group and the EA group; those in the combination group were shorter and lower than the TEAS group and the EA group (P<0.05). Compared with the control group, the time of hospital stay in the combination group, the TEAS group and the EA group were shortened (P<0.05), and that in the combination group was shorter than the TEAS group (P<0.05).@*CONCLUSION@#TEAS combined with EA can accelerate the recovery of gastrointestinal function in patients after abdominal surgery, relieve postoperative pain, and shorten hospital stay.


Subject(s)
Humans , Electroacupuncture , Transcutaneous Electric Nerve Stimulation , Acupuncture Points , Gastrointestinal Tract , Pain, Postoperative
4.
JOURNAL OF RARE DISEASES ; (4): 337-345, 2023.
Article in English | WPRIM | ID: wpr-1004960

ABSTRACT

  Objective  To summarize the clinical characteristics and RNF216 gene mutation of a patient with Gordon Holmes syndrome (GHS), and to improve the understanding of the genetic and clinica characteristics of this disease through literature review.  Methods  We collected the clinical data of the patient with GHS, extracted the DNA from 2 mL peripheral venous blood of the patient and his parents for whole exome gene detection, and then we analyzed the clinical and genetic characteristics of all previously reported patients with RNF216 gene mutation.  Results  The young male patient was short in stature at sixyearsold and was diagnosed growth hormone deficiency.He had no secondary sexual characteristics by the age of 15 and was diagnosed hypogonadal hypogonadism.After the age of 22, he gradually developed abnormal gait and had progressive decline in speech, motor, and cognitive functions.Whole exome sequencing revealed a homozygous, nonsense mutation c.1549C>T (p.R517*) in the RNF216 gene.His parents were consanguineous and were heterozygous carriers of the mutations with phenotypic normality.Combined with literature review and this case report results showed that a total of 21 patients of the disease in the world and among them 15 had pathogenic variants of RNF216 gene mutation.7 of the 15 had truncated mutations, 5 had missense mutations, and 1 synonym mutation, 1 splice mutation, and 1 deletion mutation respectively.RNF216 gene mutation can be seen in neurodegenerative diseases with multiple overlapping symptoms of GHS, Huntington-like disease, and 4H syndrome.The main clinical manifestations are hypogonadotropic hypogonadism and early-onset progressive neurological dysfunction in adolescence or early adulthood.The median age of onset of neurological symptoms is 28 years old, featuring cerebellar ataxia, dysarthria, and cognitive impairment, as well as imaging manifestations of extensive white matter lesions and cerebellar atrophy.  Conclusions  The mutation of RNF216 gene can cause GHS.Genetic testing is helpful to the diagnosis and treatment of rare diseases.

5.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 505-512, 2023.
Article in Chinese | WPRIM | ID: wpr-992125

ABSTRACT

Objective:To systematically evaluate the effect of exercise on blood pressure of middle-aged and elderly Asian populations with prehypertension and hypertension, and to provide theoretical basis for formulating accurate exercise prescriptions.Methods:Randomized controlled trials on the effect of exercise on blood pressure in middle-aged and elderly patients with prehypertension and hypertension were collected by PubMed, EMBASE, the Cochrane Library, Web of Science, CNKI and Wanfang Database.The quality of the included studies was evaluated by the Cochrane risk bias assessment tool, and the meta-analysis was performed with Stata 15.0 software.Results:A total of 23 articles and 2 095 subjects were included.Meta analysis showed that compared with the control group, aerobic exercise(WMD=-9.94, 95% CI=-12.59--7.29, P<0.001), resistance exercise(WMD=-11.15, 95% CI=-18.36--3.95, P=0.002) and aerobic combined resistance exercise(WMD=-6.09, 95% CI=-8.87--3.31, P=0.005) could reduce the systolic blood pressure level.Aerobic exercise(WMD=-6.46, 95% CI=-8.20--4.72, P<0.001) and resistance exercise(WMD=-4.38, 95% CI=-8.07--0.69, P=0.02) could reduce the level of diastolic blood pressure, while aerobic combined resistance exercise(WMD=-4.88, 95% CI=-12.87-3.11, P=0.232)had no significant effect on diastolic blood pressure.The results of subgroup analysis indicated that the differences of age, baseline blood pressure, exercise intensity, exercise time, exercise frequency, and motion cycle were the main sources of heterogeneity.The funnel plot and Egger's test indicated that there was no publication bias in this Meta-analysis. Conclusion:Aerobic exercise and resistance exercise both have positive effects on reducing blood pressure of middle-aged and elderly Asian populations with prehypertension and hypertension.

6.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 488-492, 2023.
Article in Chinese | WPRIM | ID: wpr-992122

ABSTRACT

Exercise is a crucial method for preventing and controlling chronic diseases, as well as promoting the health of Chinese residents.As guidelines for residents' exercise, traditional exercise prescriptions have limitations such as copying foreign experiences, uneven quality control, and general classification of population characteristics, which affect the applicability and practicality of their application in the Chinese population.A new model of exercise prescription is put forward and named evidence-based and differentiated exercise prescription.In terms of evidence selection, only studies based on Asian populations are selected.In terms of evidence quality control, standardized quality assessment processes are required.In terms of evidence application, accurate classification of candidate populations and personalized application of evidence are achieved.Evidence-based and differentiated exercise prescription provides scientific and accurate exercise prescription guidance for Chinese residents, realizes the integration of sports and medicine, which is conducive for the prevention and control of chronic diseases and the improvement of residents' health level.

7.
Chinese Journal of Behavioral Medicine and Brain Science ; (12): 278-282, 2023.
Article in Chinese | WPRIM | ID: wpr-992089

ABSTRACT

Turner syndrome is a disease resulted from the complete or partial loss of an X chromosome, and the typical karyotype is 45, X. Patients with Turner syndrome are susceptible to many medical problems, including short stature, congenital agenesis of ovaries and cognitive function impairment. More specifically, recent studies reported that these patients’ brain structure and brain function are different with normal people, especially in the occipital area, the amygdala, the prefrontal cortex and temporal lobe.And they also show a particular pattern of cognitive impairment(including visuospatial ability, abstract reasoning and excutive function) and social impairment and an increased risk of specific neurodevelopmental disorders. Additionally, haploinsufficiency of escape genes, gonadal steroid deficiency and failure to express parentally imprinted genes may contribute to the differences in brain structure and brain function between these patients and normal people, causing cognitive and social impairment in patients with Turner syndrome. This study reviewed the alterations and biological mechanisms in brain structure, brain function and cognitive profile in patients with Turner syndrome.

8.
Chinese Journal of Clinical Nutrition ; (6): 129-137, 2023.
Article in Chinese | WPRIM | ID: wpr-991920

ABSTRACT

Objective:The decline in nutritional status in patients with severe pneumonia may contribute to an increase in in-hospital mortality. Enteral nutrition support can improve the nutritional status of patients, and is relatively easy to manage, with low cost and fewer serious complications. On the other hand, adverse reactions such as gastric retention and gastric microbiota translocation may increase the incidence of nosocomial pneumonia and increase the uncertainty of patient prognosis. There is no predictive model for in-hospital death in severe pneumonia patients receiving enteral nutrition support. The objective of this study was to investigate the risk factors of in-hospital death in patients with severe pneumonia receiving enteral nutrition support and to establish a prognostic model for such patients.Methods:This was a single-center retrospective study. Patients with severe pneumonia who were hospitalized in Peking Union Medical College Hospital and received enteral nutrition support were included from January 1, 2015 to December 31, 2020. The primary endpoints were in-hospital mortality rate and unordered discharge rate. The independent risk factors were determined using univariate and multifactorial logistic regression analysis, the nomogram scoring model was constructed, and the decision curve analysis (DCA) was performed.Results:A total of 632 severe pneumonia patients who received enteral nutrition support were included. Patients were divided into death and survival groups according to the presence or absence of in-hospital death, and 24 parameters were found with significant differences between groups. Nine parameters were independent predictors of mortality, namely the duration of ventilator use, the presence of malignant hyperplasia diseases, the maximal levels of platelet and prothrombin during hospitalization, and the nadir levels of alanine aminotransferase, serum albumin, sodium, potassium, and blood glucose. Based on these variables, a risk prediction scoring model was established (ROC = 0.782; 95% CI: 0.744 to 0.819, concordance index: 0.772). Calibration curves, DCA, and clinical impact curve were plotted to evaluate the goodness of function, accuracy, and applicability of the predictive nomogram, using the training and test sets. Conclusion:This study summarized the clinical characteristics of patients with severe pneumonia receiving enteral nutrition support and developed a scoring model to identify risk factors and establish prognostic models.

9.
Chinese Journal of Medical Education Research ; (12): 713-717, 2022.
Article in Chinese | WPRIM | ID: wpr-955517

ABSTRACT

The competency-based medical education has formed a global trend, and puts forward a greater challenge for educational design of resident training. The traditional curriculum cannot meet the goal of competency-based education as the curriculum design is lack of theoretical support. Curriculum design is the core of training content, and serves as a significant contributing factor of training outcome. Based on the six-step approach curriculum design, the theory and practice are integrated to form a curriculum design based on theoretical guidance. Through feedback evaluation, the current curriculum design is continuously improved in order to achieve a higher competency-based training quality. With the 5-year experiences and practice, preliminary reform demonstrates effectiveness. The current study hopes to share the teaching reform experiences of residency training base and provide references for colleagues of medical education.

10.
Journal of Forensic Medicine ; (6): 702-708, 2022.
Article in English | WPRIM | ID: wpr-984161

ABSTRACT

OBJECTIVES@#To investigate the relationship between the perpetrator's sex, victim's position and slashing location as well as anthropometric parameters on distance and space required for slashing, to provide the theoretical basis for the judgment of whether the crime scene was consistent with the criminal activity space.@*METHODS@#The kinematics data of 12 male and 12 female subjects slashing the neck of standing and supine mannequins as well as the chest of the standing mannequins with a kitchen knife were obtained by using a 3D motion capture system. The relationship between the perpetrator's sex-victim's position, the perpetrator's sex-slashing location, and anthropometric parameters and the distance and space required for the slashing were analyzed by two-factor repeated measures ANOVA and Pearson correlation analysis respectively.@*RESULTS@#Compared with slashing the neck of supine mannequins, the distance (L) and normalized L (l) of slashing the neck of standing mannequins were greater, while vertical distance (LVR) and normalized LVR (lVR) of the knife side were smaller. Compared with slashing the neck of standing mannequins, the L and l slashing the chest of standing mannequins were greater, while LVR and lVR were smaller. Horizontal distance (LHR) and normalized LHR (lHR) of the knife side in males were greater than that in females. Height and arm length were positively correlated with L, LHR, and LVR when striking the standing mannequins.@*CONCLUSIONS@#When slashing the neck of supine or standing victims, the slashing distance is shorter and the slashing height is greater. Furthermore, the distance and space required for slashing are correlate with anthropometric parameters.


Subject(s)
Humans , Male , Female , Motion Capture , Crime , Biomechanical Phenomena
11.
Chinese Journal of Epidemiology ; (12): 503-508, 2022.
Article in Chinese | WPRIM | ID: wpr-935418

ABSTRACT

Objective: To analyze the situation and influencing factors of school meals leftover among primary and secondary school students in the area of the Nutrition Improvement Program for Rural Compulsory Education Students, improve the quality of school meals, develop healthy dietary behavior, and reduce food waste. Methods: In 2019, among the 50 monitoring counties that implemented the Compulsory Education Student Nutrition Improvement Program, two primary schools and two junior schools were randomly selected according to different food supply patterns.This study randomly selected one or two classes from grade 3 to grade 9. Basic information and school meals of 26 778 students were collected by using a student questionnaire. Multivariate logistic regression was used to analyze the influencing factors of leftovers rate. Results: 54.93% (14 709) of students wasted school meals, in which the highest rate was the staple food, with the main reason as "not in favor". 11.87% (1 743) of the students wasted school meals 6-7 days a week, with 54.20% (7 957) of students wasted but in less amount. The leftover rate of staple food was the highest (29.78%), followed by vegetables and meat. The main reason of leftovers was that they didn't like this kind of food (33.52%). The rate of school meal waste was higher for girls (OR=1.19,95%CI:1.13-1.25), junior high school students (OR=1.17, 95%CI: 1.11-1.25), resident students (OR=1.06, 95%CI: 1.00-1.12), lower economic level (OR=1.06, 95%CI: 1.00-1.12), parents working outside their houses (OR=1.22, 95%CI: 1.13-1.30), health education classes (OR=1.70, 95%CI: 1.40-2.06), company-based meals (OR=1.89, 95%CI: 1.71-2.07) and school meals were not as good as home food(OR=1.89, 95%CI: 1.78-2.00)(P<0.05). Conclusions: It is common for poor rural primary and middle school students in central and western China to waste school meals, and the reasons were affected by many factors. Reducing food waste requires the joint efforts of individuals, families, schools and society.


Subject(s)
Female , Humans , Food Services , Meals , Refuse Disposal , Schools , Students
12.
Chinese Journal of Epidemiology ; (12): 496-502, 2022.
Article in Chinese | WPRIM | ID: wpr-935417

ABSTRACT

Objective: To analyze anemia prevalence and its influencing factors of students involved in the Nutritional Improvement Program for Rural Compulsory Education Students in 2019. Methods: From the 2019 surveillance system of the Nutrition Improvement Program for Rural Compulsory Education Students, 47 297 primary and middle school students aged 6-17 were included in the study. Hemoglobin level was tested according to the criteria of WHO 2011. Anemia prevalence of different genders, ages, and regions was analyzed. Results: The average hemoglobin level was 135.19 g/L, with the prevalence of anemia as 8.7% in the children aged 6-17. The prevalence of anemia was 10.0% in girls, higher than that in boys (7.4%). The prevalence rates in western and central areas were 9.8% and 7.1%, respectively. From northwest, southwest, central and south, east, north to northeast areas of China, the anemia rate appeared gradually decreasing (10.2%, 9.7%, 8.3%, 7.5%, 5.7% and 3.5%). The anemia prevalence rates were 8.0%, 8.3%, and 10.9% in children from the 6-, 11-, and 14-17 years age groups, respectively. Logistic regression models revealed that students from schools not using catering software (OR=1.482, 95%CI:1.296-1.694,P<0.001), schools not serving lunch (OR=1.241, 95%CI:1.103-1.395,P<0.001), and from relatively low-income families (OR=1.297, 95%CI:1.211-1.389, P<0.001) showed as risk factors for anemia. After supplementing students' dietary factors, the results showed that students who ate meat three or more times a week had a lower risk of anemia (OR=0.907, 95%CI:0.832-0.989, P=0.026). Conclusions: The Nutritional Improvement Program for Rural Compulsory Education Students had an essential impact on improving the anemia prevalence of primary and middle school students. Family income, school location, economic factors, school feeding, and students' diet programs all impacted the prevalence of anemia.


Subject(s)
Child , Female , Humans , Male , Anemia/epidemiology , China/epidemiology , Hemoglobins , Prevalence , Rural Population , Students
13.
Chinese Journal of Epidemiology ; (12): 488-495, 2022.
Article in Chinese | WPRIM | ID: wpr-935416

ABSTRACT

Objective: To understand the growth retardation among primary and secondary school students in areas covered by the Nutrition Improvement Program for Rural Compulsory Education Students and its influencing factors to provide evidence for improving the nutrition status of rural students in China. Methods: The multi-stage cluster random sampling method selected 1 550 969 primary and secondary school students aged 6-15 years from China's central and western regions. The ratio of male and female students was balanced. The height was measured, and the growth retardation of students was determined according to the Screening Criteria for School-age Children and Adolescents malnutrition (WS/T 456-2014), from the school and county questionnaire survey related factors. The number of cases and percentages described the growth retardation of students, and the χ2 test was used for comparison between groups. Binary logistic regression was used to analyze students' growth retardation factors. Results: In 2019, the growth retardation rate of primary and secondary school students in areas covered by the Nutrition Improvement Program for Rural Compulsory Education Students was 5.7% (88 631/1 550 969), the growth retardation rate in the western part (7.1%, 66 167/927 954) was higher than that in the central part (3.7%,19 511/533 973) with difference statistically significant (P<0.001). The growth retardation rate of the boys (6.3%,50 665/803 851) were higher than that of girls (5.1%, 37 966/747 118), the difference was statistically significant (P<0.001). The growth retardation rate of primary school students in central China was 3.9%(14 914/380 598), higher than that of junior middle school students (3.0%,4 597/153 375, P<0.001). In contrast, the growth retardation rate of the western junior high school students (7.2%, 21 494/297 217) were higher than that of elementary school students (7.1%, 44 673/630 737), with a difference statistically significant (all P=0.009). Multi-factor logistic regression results showed that, in high income area (OR=0.829, 95%CI: 0.816-0.842, P<0.001), parents providing part of the meal cost (OR=0.948, 95%CI: 0.931-0.965, P<0.001), enterprises providing meals (OR=0.845, 95%CI: 0.805-0.887, P<0.001), schools providing milk (OR=0.780, 95%CI: 0.767-0.793, P<0.001), health education courses (OR=0.702, 95%CI: 0.682-0.723, P<0.001) and other local nutrition improvement efforts (OR=0.739, 95%CI: 0.720-0.758, P<0.001) were negatively correlated with the occurrence of growth retardation, The growth retardation rate of the students was lower. Conclusions: There appeared significant regional, gender, and age differences in the growth retardation rate of primary and middle school students in areas covered by the Nutrition Improvement Program for Rural Compulsory Education Students. Appropriate food supply in schools, health education courses, and parental participation in nutritional improvement was related to children's lower growth retardation rate.


Subject(s)
Adolescent , Child , Female , Humans , Male , China/epidemiology , Growth Disorders , Nutritional Status , Rural Population , Schools , Students , Surveys and Questionnaires
14.
Chinese Journal of Preventive Medicine ; (12): 632-639, 2022.
Article in Chinese | WPRIM | ID: wpr-935336

ABSTRACT

To investigate the efficacy and value of optical genome mapping (OGM) in detecting chromosomal structural variations. In a clinical study about high-precision analysis of genomic structural variation for complex genetic diseases, a retrospective study was performed on the cases with karyotyping at the department of Obstetrics and Gynecology, and Endocrinology of Peking Union Medical College Hospital from January to December 2021. Ten cases with abnormal karyotype was detected by OGM. Partial cases were verified by fluorescence in situ hybridization (FISH), SNP array or CNV-seq. Results of ten cases, nine were detected with abnormality by OGM, including unbalanced chromosomal rearrangements (n=3), translocation (n=5) and paracentric inversion (n=1), and the results were in concordance with other standard assays. However, one case with breakpoint and reconnected at centromere has not been detected. In conclusion, ten samples were comprehensively analyzed by karyotyping, FISH, SNP array or CNV-seq, and OGM, and results demonstrated that optical genome mapping as a new technology can not only detect unbalanced rearrangements such as copy number variants as well as balanced translocations and inversions, but more importantly, it can refine breakpoints and orientation of duplicated segments or insertions. So it can contribute to the diagnosis of genetic diseases and prevent birth defect. However, the current technology is not yet capable of detecting breakpoints of balanced structural variations lying within unmapped regions.


Subject(s)
Female , Humans , Pregnancy , Chromosome Mapping , In Situ Hybridization, Fluorescence , Karyotyping , Retrospective Studies , Translocation, Genetic
15.
Chinese Journal of Endocrinology and Metabolism ; (12): 288-293, 2022.
Article in Chinese | WPRIM | ID: wpr-933404

ABSTRACT

Objective:To explore the value of octreotide suppression test(OST) in predicting the efficacy of somatostatin receptor ligands(SRLs) in the treatment of active acromegaly.Methods:The clinical data of 76 patients with active acromegaly from 2011 to 2020 was retrospectively analyzed. OST was carried out as follows: After an overnight fasting and baseline sampling of growth hormone(GH), 100 μg octreotide was subcutaneously injected, and sampling for GH was obtained every 2 hours for 8 hours. All patients were treated with SRLs for at least 3 months. A good GH response is defined as a post-treatment random GH<1 μg/L or >80% fall compared with the baseline GH. A good insulin-like growth factor Ⅰ(IGF-Ⅰ) response is defined as IGF-Ⅰ<1.3 upper limit of normal(ULN) or >50% reduction compared with the baseline. If both GH and IGF-Ⅰ fulfill the criteria of a good response, it is defined as a good GH and IGF-Ⅰ response.Results:The baseline level of GH during OST was 15.00(6.38, 34.20) μg/L, the median time to reach the nadir GH was(3.65±1.65) hours, and the nadir GH level was 1.47(0.50, 4.19) μg/L. The median GH suppression rate was 89.12%(72.71%, 95.09%). When the cutoff value of GH suppression rate in predicting a good GH response was 89.32%, the area under the curve(AUC) was 0.74, with a sensitivity of 81.80% and specificity of 66.00%. When the cutoff value of GH suppression rate in predicting a good IGF-Ⅰ response was 93.14%, the AUC was 0.64, with a sensitivity of 50.00% and specificity of 75.60%. When the GH suppression rate was 90.71%, the AUC was 0.78, with the sensitivity of 83.30% and specificity of 70.00% in predicting a good GH and IGF-Ⅰ response. Compared with GH/IGF-Ⅰ non-responders, GH/IGF-Ⅰ responders displayed lower nadir GH during OST, higher GH suppression rate and IGF-Ⅰ reduction rate, and lower ratio of IGF-1 to ULN( P<0.05). Conclusion:GH suppression rate during the OST is a valuable predictor to evaluate the efficacy of SRLs in patients with acromegaly, with the highest sensitivity and specificity when the cutoff value is 90.71%.

16.
Chinese Journal of Endocrinology and Metabolism ; (12): 118-124, 2022.
Article in Chinese | WPRIM | ID: wpr-933377

ABSTRACT

Objective:To report the clinical characteristics, diagnosis, and treatment of 2 cases of X-linked acrogigantism(X-LAG).Methods:The clinical information of two patients were retrospectively reported, and peripheral blood DNA was collected for copy number variations detection.Results:Both patients had onset at age of two, with common clinical characteristics including linear growth acceleration, mild facial coarsening, enlargement of hands and feet, increased appetite, and snoring, etc. The heights Z scores of the two patients before treatment were + 6.86 and + 6.53, respectively. Growth hormone(GH) glucose inhibition test showed that GH nadir values were over 1 ng/mL and insulin-like growth factor-Ⅰ(IGF-Ⅰ) were 586.0 ng/mL and 1 042.0 ng/mL, respectively. Patient 1 received three cycles of octreotide microspheres therapy followed by surgery, and achieved clinical and biochemical remission. Patient 2 had lanreotide for 5.5 years but failed biochemical remission. Microduplication of Xq26.3, which contained pathogenic gene G-protein coupled receptor 101(GPR101), was found in germline DNA of two patients through copy number variation detection, leading to the diagnosis of X-LAG.Conclusion:It should be cautious of X-LAG when children below 2 years old presents symptoms such as overgrowth and so on. Medication combined with surgery is effective.

17.
Chinese Journal of School Health ; (12): 970-973, 2022.
Article in Chinese | WPRIM | ID: wpr-936509

ABSTRACT

Objective@#To explore the correlation between obesity and first ejaculation in boys aged 11-18 years old in Ningxia in 2019, and to provide the theoretical reference for puberty development among obese boys.@*Methods@#Using the method of stratified random cluster sampling, 5 240 boys aged 11- 18 were selected from Yinchuan, Zhongwei, Wuzhong and Guyuan in Ningxia Hui Autonomous Region. Height, weight, and first ejaculation were obtained.Body mass index (BMI) was calculated to determine nutritional status, and the χ 2 test was used to compare the differences between groups of nutritional status; the probability unit regression method was used to calculater the soth percentile age at ejaculation, and the U test was applied to compare the differences in age at ejaculation between groups.@*Results@#The rates of overweight and obesity among boys aged 11 to 18 years in Ningxia Hui Autonomous Region in 2019 were 15.5% and 8.8%. The detection rate of overweight and obesity among urban boys was 17.8% and 10.5% and the detection rate of overweight and obesity among rural boys was 12.9% and 6.9%,respectively. The 50 th percentile age at half ejaculation among urban boys aged 11 to 18 years was 14.94 years; the 50 th percentile age at ejaculation among rural boys was 15.33 years( P <0.01). The 50 th percentile age at ejaculation was 15.61, 15.10, 15.05 and 15.05 years for boys in the wasted, normal weight, overweight and obese groups, respectively.@*Conclusion@#Nutritional status was not associated with age at first ejaculation in the present study,but warrants farther investigation.

18.
Chinese Journal of Hospital Administration ; (12): 222-224, 2022.
Article in Chinese | WPRIM | ID: wpr-958762

ABSTRACT

In recent years, foreign countries are gradually implementing broad consent to improve the utilization of medical data and biological samples, but broad consent may face ethical issues such as imperfect notification and affecting the rights of subjects. There are already relevant regulations and practices on broad consent in foreign countries. The concept of broad consent is not clearly defined in China′s laws. At present, the treatment of biological samples can be roughly divided into four categories in practice, and there is potential application space for broad consent. The specific scope of broad consent should be clarified, distinguished from donation behavior, and the implementation of broad consent should be explored on the basis of protecting the rights of subjects.

19.
Chinese Journal of Hospital Administration ; (12): 518-521, 2021.
Article in Chinese | WPRIM | ID: wpr-912792

ABSTRACT

Peking Union Medical College Hospital, as one of the most stressful medical institutions in China, is facing the problem of emergency department overcrowding. In order to effectively alleviate the emergency overcrowding, improve the medical quality and patients′ medical experience, the hospital firmly grasped the two incremental links of " throughput" and " output" factors, established a multidisciplinary and multi-department cooperation team, constructed a close medical alliance cooperation mode, and innovated and explored a harmonious emergency overcrowding relief mode with the goal of unblocking the " exit" of patients. The practice showed that the comprehensive measures could effectively alleviate the problem of emergency overcrowding, and improve the medical environment and medical quality.

20.
Chinese Journal of Hospital Administration ; (12): 229-231, 2021.
Article in Chinese | WPRIM | ID: wpr-912730

ABSTRACT

Since the performance appraisal of national tertiary public hospitals was carried out, higher requirements have been put forward for the operation and management of hospitals. Under the premise of ensuring the quality of medical service and medical safety, how to save hospital operating costs and improve the efficiency is an urgent problem for hospital managers. Supported by information upgrading, a tertiary hospital in Guangzhou reformed the treatment process and carried out pre-hospitalization in surgical departments. Data showed that pre-hospitalization can significantly shorten the length of stay, reduce hospitalization costs, and improve the operation efficiency of the hospital.

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