ABSTRACT
Objective:To explore the clinical manifestations and genetic characteristics of Wolf-Hirschhorn syndrome (WHS) to improve the ability of diagnosis and differential diagnosis of the disease.Methods:The clinical features and auxiliary examinations and treatment of a proband with WHS caused by microdeletion of 4p16.3 segment who admitted to the Third Affiliated Hospital of Zhengzhou University in December 2021 were recorded, and whole exome sequencing (WES) of the family was performed. The prognosis was followed up.Results:The female proband, 11 months old, presented with convulsions at the age of 8 months, with the characteristics of heat sensitivity and cluster seizures, and her identical twin sister had a similar medical history. Physical examination found malnutrition, retarded development, special face, prominent forehead, wide nasal bridge, small jaw, precordial murmur and grade 3/6 murmur in the whole period, hyperactivity of P2, and low limb muscle tone. The whole exon and copy number variation (CNV) test of the family revealed that the proband had a 1.99 Mb heterozygous deletion in the chromosome 4p16.3 segment, including WHSC1 (NSD2), WHSC2 (NEFLA) and other genes. Copy number variation sequencing (CNV-Seq) of the proband and her sister showed 1.97 and 1.92 Mb heterozygous deletion of chromosome 4p16.3, respectively. Genealogical analysis by quantitative polymerase chain reaction revealed that the CNV was de novo, and it was determined to be a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. The proband took sodium valproate orally, and her sister took oral sodium valproate, zonisamide, and levetiracetam successively, and at the same time they received family rehabilitation training. The age at the last follow-up was 1 year and 8 months. Neither of them had convulsions again in the past 3 months, but the developmental delay was obvious. Conclusion:WHS patients may present with growth retardation, epilepsy, Greek warrior helmet-like special face, and congenital heart disease, and may have microdeletions in the chromosome 4p16.3 segment.
ABSTRACT
Objective:To investigate the detection rate of motoric cognitive risk(MCR)syndrome and explore the possible risk factors at different age groups.Methods:A total of 561 patients from geriatric outpatient clinic of Hubei Provincial Hospital of Traditional Chinese Medicine from November 2018 to December 2019 were divided into two age groups under 70 years old(n=241)and 70 years old and above(n=320). The general information, Pittsburgh Sleep Quality Index, Geriatric Depression Scale-15(GDS-15), 4-meter walking test, Mini-Mental State Examination and Morse Fall Scale were collected.Patients with MCR were screened out according to the MCR diagnostic criteria.Logistic multiple regression analysis was used to analyze the associated risk factors.Results:7 cases(7/241, 2.9%)met the MCR diagnostic criteria in age<70 years group, and 34 cases(34/320, 10.7%)in age ≥ 70 years group.The proportion of hearing impairment complaints and GDS-15 scores of MCR patients were higher than those of the non-MCR group in age<70 years group, and the Morse Fall Scale of MCR patients was higher than that of the non-MCR group in age ≥70 years old group( P<0.05). After adjusting for associated confounding factors, multiple logistic regression analysis showed that hearing impairment complaints( OR=26.394, P<0.05)and GDS-15( OR=1.385, P<0.05)were independent risk factors for MCR in age<70 years group.And female( OR=0.445, P<0.05)was a protective factor for MCR in age ≥70 years old group. Conclusions:Motoric cognitive risk syndrome has different risk factors in different age groups, which may indicate that the causes and predictive significance of MCR in these two different age groups are different.
ABSTRACT
Objective To provide a scientific basis for the formulation of effective incentive measures for rural health workers,by analyzing the factors influencing their work enthusiasm and constructing an incentive mechanism framework.Methods A field questionnaire survey and personal in-depth interview were conducted on 803 health technicians from 45 township health centers in Shandong,Anhui and Shanxi provinces.The study covered economic,management,education and career supports aspects,and the data were analyzed in descriptive,multi-level model and correlation analyses.Results The work enthusiasm scoring of rural health workers was 89.83 + 9.54.Workload,doctor-patient relationship,work competence and income index were the four influencing factors,with the differences showing statistical significance(P ＜0.05).The income index (income expectancy/real income affects work) influences the enthusiasm negatively,while the rest of the factors were positive.Work enthusiasm was positively correlated with three dimensions of job performance.The satisfaction of interpersonal relationship,workload and competence were positively correlated with work enthusiasm.The correlation indexes are respectively 0.35,0.33 and 0.21 (P ＜ 0.01).Conclusions To motivate primary health institutions and their health workers,the authorities should focus on the economic factors,and take into account non-economic ones,while improving the performance-based wage system and creating a fair workplace culture.
ABSTRACT
Objective To understand the job satisfaction of health technicians at township health centers and explore the strategies of improvement.Methods Based on the theory of existence,relatedness and growth needs,both quantitative and qualitative methods were used in the study.The quantitative investigation was carried out with the multi-stage cluster sampling method.The questionnaire for township health center personnel was compiled by the research group as a measuring tool for a survey of 803 health technicians from 45 township health centers regarding their existence,relatedness and growth needs in terms of existence,relatedness and growth needs.The data acquired were subject to descriptive analysis and variance analysis.The qualitative investigation was made by means of convenient sampling in personal indepth interviews.The thematic framework method was used to analyze the contents of the interviews.Results The satisfaction of existence needs of health technicians at township health centers scored the lowest(2.59),followed by that of growth needs(2.91),and the highest scoring was relatedness needs(3.56).There exist significant differences in the scoring of existence,relatedness and growth needs,among different personnel category,gender,age,staffing quota,administrative posts,and academic titles.Conclusions The authorities should emphasize the existence,relatedness and growth needs of health technicians at township health centers,and improve their job satisfaction by perfecting the salary distribution system and perfecting the personnel training system.
ABSTRACT
ObjectiveTo evaluate the efficacy and safety of spironolactone in treatment NYHA (New York Heart Association) class Ⅰ - Ⅱ heart failure patients. MethodsEighty eight patients with NYHA classⅠ- Ⅱheart failure were randomized to sprionolactone or placebo groups.Patients were assessed by echocardiography and 6-minute walking test (6MWT) ,plasma aldosterone and NT-proBNP were measured before and 6 months after treatment; serum potassium and creatinine were monitored through the study. ResultsThe E/A and E/E' in spironolactone group were significantly lower than those of control group (1.2±0.7 vs. 1.7±0.6, P=0.007;15.2±2.3vs. 17.7±3.0, P=0.000). No differences were observed in left ventricular end-diastolic diameter (LVEDD) and left ventricular ejection fraction (LVEF)between two groups after treatment. Left ventricular mass index (LVMI) in spironolactone group decreased after theatment [(117 ±27) g/m2 vs.(112 ± 19) g/m2,P = 0.044]. Plasma aldosterone level in spironolactone group after treatment was significantly lower than that of control group [ ( 157 ± 16) ng/L vs.( 165 ± 16) ng/L, P =0. 021 ]. Although there were no differences in plasma NT-proBNP level between two groups after treatment, it decreased significantly comparing with that of before treatment ( P = 0. 000). No differences were observed in serum potassium and creatinine between two groups after treatment. However serum potassium and creatinine in spironolactone group increased significantly after treatment [ ( 83 ± 18 )pmol/Lvs. (87 ± 22) μmol/L, P =0.047; (4.4 ±0.4) mmoL/L vs. (4.5 ±0.6) mmol/L, P =0. 012]. ConclusionSpironolactone can alleviate cardiac remolding and diastolic function in NYHA classⅠ - Ⅱ heart failure patients.