Objective:To identify causative genes for autosomal recessive woolly hair (ARWH) in a family.Methods:Clinical data were collected from two patients and other family members in a Chinese pedigree of Han nationality with ARWH. Peripheral blood samples were obtained from the two patients, their unaffected parents and 100 unrelated healthy individuals, and DNA was extracted from the blood samples. A next-generation skin-targeted sequencing panel was used to detect gene mutations in the patients, and Sanger sequencing was performed to verify the sequencing results. The function of protein encoded by the mutant gene was predicted.Results:Two missense mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) were both identified in the LIPH gene of the two patients, which were inherited from their father and mother respectively. Neither of the two mutations was identified in the 100 unrelated healthy controls. Interspecies sequence alignment showed that leucine at amino acid position 177 and cysteine at amino acid position 246 of the protein encoded by the LIPH gene were highly evolutionarily conserved. As SIFT and Polyphen-2 softwares showed, the mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) were both predicted to be detrimental variations.Conclusion:Two missense mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) in the LIPH gene may contribute to the clinical phenotype of the two patients with ARWH in this family.

Objective:To explore clinical results in reconstruction of finger C-shape soft tissue defect with the wrist crease free flap carrying cutaneous nerve.Methods:From June, 2017 to April, 2019, 7 fingers(7 patients) with C-shape defect were treated with the wrist crease free flap carrying cutaneous nerve. The size of defect ranged from 1.0 cm × 2.5 cm-2.2 cm × 4.0 cm; the flap sizes were 1.3 cm × 2.7 cm-2.5 cm × 4.5 cm. Five fingers had unilateral defect of proper palmar digital artery. Two fingers that had bilateral defect of proper palmar digital artery with poor blood circulation were re-established with blood supply by Flow-through flaps. Four fingers had unilateral defect of proper palmar digital nerves, and 3 had bilateral defect of proper palmar digital artery. Five of the fingers were repaired by the superficial branch of the radial nerve and 2 repaired by palmar cutaneous branch of median nerve. Regular outpatient follow-up was conducted after surgery for 8 to 15 (mean 11) months.Results:All the fingers and flaps survived with primary healing. Numbness existed in the areas of functional dominance of the cutaneous nerve. At the end of follow-up, the flaps showed good texture without significant bloated appearance with the recovery of protective sensation. The sensation of fingertip recovered to S 4 in 5 fingers and S 3+ in 2 fingers. Finger pulps were plump. All of the fingers moved freely. Linear scars were observed at donor sites and the wrists moved freely. Numbness feeling in the areas of cutaneous nerve disappeared at 6 to 8 weeks after surgery. According to the Functional Evaluation Criteria of the Finger Replantation published by the Hand Surgery Society of the Chinese Medical Association, the results were excellent in 6 fingers and good in 1 finger. Conclusion:The wrist crease free flap carrying cutaneous nerve is constant and can be dissected transversely to reconstruct and fit the C-shape defect of finger. It can re-establish the blood supply as well as to repair the proper palmar digital nerve defect at the same time.

Objective:To explore the effect of empowerment health education on the biochemical indicators and self-efficacy of elderly diabetic patients, so as to provide a theoretical basis for choosing a health education model suitable for elderly diabetic patients.Methods:From January to July of 2020, convenience sampling was used to select 130 elderly diabetic patients who were treated in the Geriatric Outpatient Clinic of Beijing Friendship Hospital affiliated to Capital Medical University as the research object. All patients were divided into the intervention group and the control group according to the visit time, 65 cases in each group. The control group conducted regular health education, and the intervention group implemented empowerment health education. The blood glucose, blood lipid indexes and self-efficacy scores of the two groups of patients before and three months after the intervention were compared.Results:After intervention, the levels of glycosylated hemoglobin and triacylglycerol in the intervention group were lower than those in the control group, and the differences were statistically significant ( P<0.05) . There was no significant difference in fasting blood glucose, two hours postprandial blood glucose, and low-density lipoprotein cholesterol levels between the two groups after intervention ( P>0.05) . The total scores of self-efficacy and the scores of strategic efficacy, and executive efficacy of the intervention group after the intervention were higher than those of the control group, and the differences were statistically significant ( P<0.05) . Conclusions:Empowerment health education is more effective than conventional health education in improving the self-efficacy of elderly diabetic patients, especially in terms of strategic efficiency and executive efficiency, and has a certain effect of improving some clinical biochemical indicators of elderly diabetic patients.

Objective To analyze the hotspots and frontiers of researches related to exercise intervention for spinal curvature abnor-malities in children and adolescents. Methods Articles related to exercise intervention for spinal curvature abnormalities in children and adolescents were re-trieved from CNKI and Web of Science Core Collection,from January,2014 to December,2023.The literatures were analyzed wtih CiteSapce 6.2.R3 in terms of disciplines,countries,institutes and keywords. Results A total of 233 articles were retrived,including 71 articles in Chinese and 162 articles in English.The annual pub-lication volume was on the rise.China was the country with the highest number of publications.South Korea was seen a sudden increase in recent literature.For Chinese,the institutions with the largest number of publication were the Department of Health and Exercise Science in Tianjin University of Sport and Luoyang Orthopedic-Traumatological Hospital of Henan Province(Henan Provincial Orthopedic Hospital).While the institutions with the largest number of publication in English were Marmara University and Hong Kong Polytechnic University.The English literatures covered a wide range of disciplines,including clinical medicine,sports medicine,neurolo-gy and psychology.Common high-frequency keywords in both Chinese and English literatures were idiopathic scoliosis,Cobb's angle and Schroth exercise.The latest bursting words included physical health in Chinese,and health-related quality of life and respiratory muscle strength in English. Conclusion The research popularity related to exercise intervention for spinal curvature abnormality in children and ado-lescents is generally on the rise.The research hotspots focus on four main areas:disease,quality of life,research advances and clinical treatment.More attention should be paid to the effect and dosage of exercise intervention on the respiratory function,as well as the effect of Chinese medicine exercise therapy on pediatric patients with abnormal spinal curvature diseases.Future work should focus on constructing an evidence-based Chinese/West-ern medicine exercise prevention and treatment system in the context of China's national conditions,advancing high-quality randomized controlled trials,strengthening interdisciplinary and international collaborations,and fo-cusing on the development and evaluation of personalized exercise intervention programs.

Objective To examine the changing antimicrobial resistance profile of Enterobacter spp.isolates in 53 hospitals across China from 2015 t0 2021.Methods The clinical isolates of Enterobacter spp.were collected from 53 hospitals across China during 2015-2021 and tested for antimicrobial susceptibility using Kirby-Bauer method or automated testing systems according to the CHINET unified protocol.The results were interpreted according to the breakpoints issued by the Clinical & Laboratory Standards Institute(CLSI)in 2021(M100 31st edition)and analyzed with WHONET 5.6 software.Results A total of 37 966 Enterobacter strains were isolated from 2015 to 2021.The proportion of Enterobacter isolates among all clinical isolates showed a fluctuating trend over the 7-year period,overall 2.5％in all clinical isolates amd 5.7％in Enterobacterale strains.The most frequently isolated Enterobacter species was Enterobacter cloacae,accounting for 93.7％(35 571/37 966).The strains were mainly isolated from respiratory specimens(44.4±4.6)％,followed by secretions/pus(16.4±2.3)％and urine(16.0±0.9)％.The strains from respiratory samples decreased slightly,while those from sterile body fluids increased over the 7-year period.The Enterobacter strains were mainly isolated from inpatients(92.9％),and only(7.1±0.8)％of the strains were isolated from outpatients and emergency patients.The patients in surgical wards contributed the highest number of isolates(24.4±2.9)％compared to the inpatients in any other departement.Overall,≤ 7.9％of the E.cloacae strains were resistant to amikacin,tigecycline,polymyxin B,imipenem or meropenem,while ≤5.6％of the Enterobacter asburiae strains were resistant to these antimicrobial agents.E.asburiae showed higher resistance rate to polymyxin B than E.cloacae(19.7％vs 3.9％).Overall,≤8.1％of the Enterobacter gergoviae strains were resistant to tigecycline,amikacin,meropenem,or imipenem,while 10.5％of these strains were resistant to polycolistin B.The overall prevalence of carbapenem-resistant Enterobacter was 10.0％over the 7-year period,but showing an upward trend.The resistance profiles of Enterobacter isolates varied with the department from which they were isolated and whether the patient is an adult or a child.The prevalence of carbapenem-resistant E.cloacae was the highest in the E.cloacae isolates from ICU patients.Conclusions The results of the CHINET Antimicrobial Resistance Surveillance Program indicate that the proportion of Enterobacter strains in all clinical isolates fluctuates slightly over the 7-year period from 2015 to 2021.The Enterobacter strains showed increasing resistance to multiple antimicrobial drugs,especially carbapenems over the 7-year period.