Objective:To investigate the body composition and sarcopenia in patients with stable chronic obstructive pulmonary disease (COPD) and to analyze the influencing factors.Methods:A total of 220 patients with stable COPD were enrolled in the study from China-Japan Friendship Hospital during July 2018 to December 2019; 220 age and sex-matched healthy subjects (control group 1) and 220 healthy young adults aged 20-40 years (control group 2) were enrolled from the community. The body composition was measured by bioelectrical impedance method. The demographic characteristics, disease conditions, living background and other related factors were collected by questionnaire. T test or one-way ANOVA were used for comparison between groups, and non parametric test was used for non normal distribution data.Results:Compared with the control group 1 and control group 2, the body fat rate ( Z=-10.037, t=-8.411), the fat free mass index ( Z=-8.165, t=-7.856), and appendicular skeletal muscle index (ASMI) ( t=-7.158, t=-11.989) were significantly lower in stable COPD patients ( P<0.05). Among 220 patients with stable COPD, 51 (23.2%) were diagnosed as sarcopenia; the prevalence of sarcopenia was 18.3% (24/131) in men and 30.3% (27/89) in women (χ2=4.297, P=0.038). The decreased ASMI and grip strength in COPD patients with sarcopenia were significantly associated with age≥75 (χ2= 15.746, F= 14.048), female sex ( Z=5.805, t=2.672), low income ( Z=-4.291, t=-4.789), Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade Ⅳ (χ2=22.644, F=3.905), Modified British Medical Research Council (mMRC) Dyspnea Scale grade 4 (χ2=12.475, F=4.369), not receiving systematic health education ( Z=-4.239, Z=-2.474), no exercise (χ2=14.786, F=3.402), insufficient nutrition intake (χ2=40.531, F=10.529). The range of 6-min walking distance was (110-268) m, that was even shorter for patients with mMRC dyspnea scale grade 4 ( F=3.468, P<0.05). Conclusion:The impairment of body composition is common in COPD patients, which will further affect the body function. It is suggested that the routine evaluation of COPD should include the measurement of body composition.

Objective: To confirm early (6 hours) exercise in patients with partial hepatectomy is safe and feasible. Methods: The control group included 211 patients who qualified for partial liver resection before the accelerated rehabilitation surgery (ERAS), 218 patients with partial hepatectomy who met the entry criteria after the implementation of ERAS were taken as test group, get out of bed 24 hours after routine mission in control group, activity of 6 hours after operation in ERAS group. To observe the time of getting out of bed and the incidence of postoperative complications in 2 groups. Results: Comparison with control group, early exercise time of patients in ERAS group after surgery. The incidence of postoperative complications decreased was 14.3% (31/218) while 34.6%(73/211) of the control group. The difference was statistically significant (χ²=299.3, 18.270, P < 0.01). And did not increase the risk of falls, incision pain, postoperative bleeding. Conclusion Liver partial resection is safe and effective for patients with 6 hours post-operative exercise, worth clinical application.

Objective:To explore the clinical phenotype and genotype of a family with hereditary hypofibrinogenemia.Methods:Activated partial thrombin time (APTT), prothrombin time (PT),thrombin time (TT) and thrombelastogram (TEG) were tested in all family members. Fibrinogen activity and antigen were detected by Clauss method and immunoturbidimetric method respectively. All exons and flanking sequences of fibrinogen FGA,FGB,FGG genes were analyzed by PCR, and the products were subjected to Sanger sequencing.Results:The proband represented prolonged PT and TT, low Fg activity and antigen, elevated K value and decreased Angle value in TEG. Other family members reported similar changes including proband′s father,daughter and son, and his elder brother and his niece. Exon 5 c.510_512 of FGG gene in the proband revealed a minor deletion mutation.Conclusion:The novel heterozygous missense mutation of exon 5 c.510_512del (Gln170_Ile171 del ins His) of FGG gene is the molecular mechanism that leads to hereditary hypofibrinogenemia in this family.

Objective:To analyze the clinical phenotype and genetic basis for a child featuring familial short stature.Methods:A child who was admitted to Huzhou Maternal and Child Health Care Hospital on October 7, 2021 for growth retardation and pectus carinatum was selected as the study subject. Physical exam and medical imaging was performed. The child was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results:The child, a 1-year-old male, had manifested with slightly short stature ( Z = -2.03), midfacial dysplasia, and multiple skeletal dysplasia such as pectus carinatum, irregular vertebral morphology, and defect of lumbar anterior bones. His mother, maternal grandmother and great-maternal grandfather also had short stature. WES revealed that the child has harbored a heterozygous c. 2858dupA (p.Asp953GlufsTer476) frameshifting variant of the ACAN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 2858dup (p.Sp953Glufster476) variant was classified as likely pathogenic (PVS1+ PM2_Supporting). The patient has shown marked improved height after receiving 11 months of treatment with human recombinant growth hormone (supplemental dose) starting from 20 months of age. Conclusion:The ACAN: c. 2858dup (p.Asp953GlufsTer476) variant probably underlay the pathogenesis of short stature in this child.