1.A pair of siblings with congenital short bowel syndrome and intestinal malrotation caused by a novel variation in the CLMP gene
Lili MA ; Xin LEI ; Xiangde LIN ; Yuandong CHEN ; Bo XU ; Guoxian HUANG
Chinese Journal of Perinatal Medicine 2024;27(2):158-160
This paper reports a pair of siblings with congenital short-bowel syndrome (CSBS) complicated with intestinal malrotation. Case 1 was born with a birth weight of 2 550 g and a length of 48 cm. On September 10, 2017, emergency Ladd's procedure and appendectomy were performed on the infant 23 days after birth due to intestinal obstruction at the Women and Children's Hospital, School of Medicine, Xiamen University. The small intestine of the infant had a total length of 65 cm. Postoperative enteral and parenteral nutrition supports were provided for six months. Whole exome sequencing revealed a homozygous variant (NM 024769; nucleotide deletion in the exon 3-5) in the CLMP gene (chr11:122953792-122955421), with the parents being the heterozygous carriers but without phenotype. Case 2, the younger sibling of Case 1, was born in the same hospital on March 20, 2020, with a birth weight of 2 932 g and a body length of 49 cm. Prenatal single-gene sequencing on the amniotic fluid identified the same gene variation as his sister's. The baby boy received Ladd's procedure and appendectomy on the second day after birth which found the length of his small intestine was 51 cm. Full enteral nutrition was achieved six months after the operation. Both cases were followed up for 12 months. The body weight and length of Case 1 were both below the first percentile (< P1). The body weight of Case 2 was 8.03 kg ( P3- P5) and the length was 76.0 cm ( P25- P50).
2.Epidemic characteristics of uterine body cancer in Gansu province in 2019 and its trend analysis from 2010 to 2019
Xia HAN ; Gaoheng DING ; Jing YANG ; Yuqin LIU ; Lan CHEN ; Guoxian SONG
Practical Oncology Journal 2024;38(1):7-12
Objective In order to determine the incidence and mortality of uterine body cancer in Gansu province in 2019,the epidemic characteristics and the change trend of incidence and death from 2010 to 2019 were analyzed.Methods The quality control qualified data in Gansu province tumor registration center were used,uterine body cancer in urban and rural,age-specific inci-dence(mortality),the China standardized rate by Chinese population,the World standardized rate by World population,cumulative rate,crude incidence(mortality),composition ratio and rank,average annual percentage change(AAPC)and other indicators were calculated.Results In 2019,uterine body cancer in Gansu province ranked the seventh in the incidence of female malignant tumors,with a crude incidence of 4.43/100,000,the China standardized incidence was 3.28/100,000,and the World standardized incidence was 3.19/100,000.In 2019,uterine body cancer in Gansu province ranked the sixth among the mortality of female malignant tumors,with the crude mortality of 0.56/100,000,the China standardized mortality was 0.36/100,000,and the World standardized mortality was 0.35/100,000.The peak of morbidity(mortality)was in the age range of 50 to 54 years old.From 2010 to 2019,the incidence of uterine body cancer in Gansu province showed an overall upward trend.The China standardized incidence was AAPC=4.34%(95%CI:1.60%-7.15%),with a statistically significant trend(P<0.05);The mortality of uterine body cancer showed a fluctuating pat-tern of first rising,then decreasing,and increasing again,showing an overall downward trend.The China standardized mortality was AAPC=-11.35%(95%CI:-26.77%-7.32%),and the trend was not statistically significant(P>0.05).The incidence(mortali-ty)in rural areas was higher than that in urban areas.Conclusion The overall incidence of uterine body cancer in Gansu province is on the rise,and the death is on the decline.However,mortality in rural areas is on the rise.It is recommended to vigorously promote women′s health science popularization and education throughout the province,strictly implement the comprehensive measures of"early detection,early diagnosis,early treatment",and focus on the prevention and control of women aged 50-54,especially strengthening the early diagnosis and treatment of uterine body cancer in rural areas.
3.Age-related change in mitochondrial DNA copy number and its correlation with intrinsic capacity and body composition
Tingting HUANG ; Danmei ZHANG ; Li QIN ; Shu CHEN ; Yan MAO ; Haitong BAO ; Xiao WANG ; Qianqian ZHU ; Qiangwei TONG ; Guoxian DING ; Juan LIU
Chinese Journal of Geriatrics 2023;42(1):1-6
Objective:To investigate the correlation of peripheral blood relative mitochondrial DNA copy number(mtDNAcn)with intrinsic capacity and body composition, and to identify potential biomarkers for healthy aging.Methods:Clinical data of 416 patients admitted to our hospital from September 2019 to June 2021 were consecutively collected.MtDNA was extracted from peripheral blood of these subjects, and mtDNAcn was determined by a real-time fluoresence quantitative reverse transcription-polymerase chain reaction(qRT-PCR). Intrinsic capacity assessment included 5 aspects that were exercise[Morse Fall Scale(MFS), Physiological Frailty Phenotype(PFP), Sarcopenia Questionnaire(SARC-CALF), Short Physical Performance Battery(SPPB), Time Up and Go Test(TUG)]; vitality[Mini Nutritional Assessment(MNA), Multidimensional Prognostic Index(MPI)]; cognition[Mini-Mental State Examination(MMSE)scale]; psychology[Geriatric Depression Scale(GDS), Self-rating Anxiety Scale(SAS)]; sensory capacities[Cumulative Illness Rating Scale-the Comorbidity Index(CIRS-CI)]. To assess body composition, dual-energy X-ray absorptiometry was used to measure body fat, including trunk fat, total body fat, fat in the abdominal region, fat in the buttock region, and then to calculate fat index(FMI)and limb skeletal muscle mass index(ASMI).Results:Spearman correlation analysis showed that mtDNAcn had a negatively correlation with age( r=-0.176, P<0.05). After adjustment for gender and body mass index, partial correlation analysis showed mtDNAcn were still negatively correlated with age( r=-0.144, P<0.05). Furthermore, mtDNAcn was significantly correlated with 4 m gait speed, the scores of SARC-CalF, MFS, MNA, MMSE, MPI and its sub-scale's Activities of Daily Living(ADL)and Short Portable Mental Status Questionnaire(SPMSQ)( r=0.171, -0.207, -0.163, 0.221, 0.184, -0.210, 0.241, -0.269, all P<0.05). After adjustment for age, gender and body mass index, partial correlation analysis showed mtDNAcn still had a significant correlation with gait speed, the scores of MFS, MNA, MPI and SPMSQ( r=0.170, -0.170, 0.148, -0.242, -0.188, all P<0.05). In addition, the Spearman correlation analysis showed that mtDNAcn was positively correlated with FMI, trunk fat, total body fat, abdominal fat and fat in the buttock region( r=0.168, 0.143, 0.175, 0.116, 0.199, all P<0.05). However, after adjustment for age and gender, mtDNAcn was only correlated with FMI, total body fat, fat in the buttock region( r=0.126, 0.131, 0.127, all P<0.05). On the other hand, multiple linear regression analysis showed that mtDNAcn was significantly correlated with age, gait speed, FMI, total body fat, fat in the buttock region, the scores of MFS, PFP, MNA and MPI( β=-0.191, 0.156, 0.126, 0.131, 0.125, -0.119, -0.145, 0.151, -0.171, all P<0.05). Conclusions:MtDNAcn is correlated with physical function, frailty, nutrition, falling, cognition and body composition, and may be considered as a biomarker for the evaluation of the locomotion and vitality of human intrinsic capacity.
4.The correlation between blood glucose level and muscle mass, strength and function in an elderly population
Shan LYU ; Ling LING ; Xing CHEN ; Shu CHEN ; Siping ZHU ; Wei LIN ; Guoxian DING ; Rong LYU
Chinese Journal of Internal Medicine 2022;61(4):390-396
Objective:To explore the correlation between blood glucose levels and the three factors of sarcopenia (muscle mass, strength and function) in older Chinese community dwellers.Methods:This is a retrospective study conducted by collecting the data of patients in Jiangsu Huaqiao Road Community Health Service Center from 2018 to 2019. Two hundred and fifty people aged 60 years or elder were selected. Among them, 101 were men and 149 were women. According to the American Diabetes Association diagnostic criteria for diabetes mellitus in 2018, they were divided into normal glucose tolerance (NGT) group, pre-diabetes group and diabetes group. The patients were assessed for sarcopenia as well.Results:Compared with those in the NGT group, muscle mass and upper limb muscle strength did not change in the diabetic group, but lower limb muscle strength and body function [walking speed, balance, short physical performance battery (SPPB)] decreased significantly in the diabetic group. Pearson correlation analyses showed that fasting plasma glucose(FPG) was negatively correlated with walking speed ( r=-0.248, P=0.001), three-pose balance ( r=-0.166, P=0.013) and SSPB ( r=-0.213, P=0.001). Glycosylated hemoglobin A1c(HbA1c) was positively correlated with sitting and standing time ( r=0.205, P=0.002), and negatively correlated with three-pose balance ( r=-0.186, P=0.006) and SSPB ( r=-0.154, P=0.024). Multiple regression analyses showed that FPG was negatively associated with walking speed (β=-0.125, P=0.005) and SPPB (β=-0.034, P=0.012), and that HbA1c was positively associated with sitting and standing time (β= 0.218, P =0.006) and negatively associated with three-pose balance (β=-0.143, P=0.012), and SPPB (β=-0.117, P =0.036). Conclusions:There is no significant correlation between blood glucose levels and muscle mass in the elderly; however, FPG is closely correlated with gait speed, and HbA1c is closely correlated with muscle strength of lower limbs and balance ability in the elderly.
5.The correlation of age-related mitochondrial respiratory function of peripheral blood mononuclear cells with grip strength and appendicular skeletal muscle mass
Danmei ZHANG ; Tingting HUANG ; Shu CHEN ; Qianqian ZHU ; Qiangwei TONG ; Guoxian DING ; Juan LIU
Chinese Journal of Geriatrics 2021;40(5):609-613
Objective:To investigate the correlation of mitochondrial respiration function and oxidative phosphorylation of peripheral blood mononuclear cells(PBMCs)with grip strength and muscle mass in the elderly, and to identify potential biomarkers for the diagnosis of sarcopenia.Methods:A total of 65 patients admitted to our hospital from June 2019 to August 2020 were enrolled in this study.PBMCs were extracted from subjects.Mitochondrial oxidative respiration function was assessed via the Seahorse XF24 analyzer.Grip strength was measured using a hydraulic dynamometer, and appendicular skeletal muscle mass(ASM)was estimated by dual-energy X-ray absorptiometry(DXA). Multivariate analysis was conducted by using partial correlation analysis and multiple linear regression, in order to evaluate the correlation of mitochondrial oxidative respiration function with grip strength and ASM.Results:After adjustment for gender and body mass index(BMI), partial correlation analysis showed that grip strength and ASM had a negative correlation with age( r=-0.537 and -0.390, both P<0.001); and basal respiration, maximal respiration, ATP production and spare respiratory capacity of mitochondria in PBMCs were negatively correlated with age( r=-0.558, -0.614, -0.526 and -0.582, all P<0.001), whereas grip strength and ASM were positively correlated with basal respiration, maximal respiration, ATP production, spare respiratory capacity and proton leak of mitochondria in PBMCs(grip strength: r=0.414, 0.451, 0.362, 0.420 and 0.425, P=0.002, 0.001, 0.008, 0.002 and 0.002; ASM: r=0.319, 0.368, 0.299, 0.352 and 0.279, P=0.019, 0.006, 0.028, 0.009 and 0.041). Multiple linear regression analysis showed that grip strength and ASM were positively correlated with basal respiration, maximal respiration, ATP production, spare respiratory capacity and proton leak of mitochondria in PBMCs(grip: β=0.503, 0.548, 0.452, 0.519 and 0.532, t=3.248, 3.604, 2.774, 3.301 and 3.350, P=0.002, 0.001, 0.008, 0.002 and 0.002; ASM: β=0.302, 0.355, 0.289, 0.346 and 0.271, t=2.427, 2.856, 2.263, 2.716 and 2.091, P=0.019, 0.006, 0.028, 0.009 and 0.041). Age was negatively correlated with basal respiration, maximal respiration, ATP production and spare respiratory capacity of mitochondria in PBMCs( β=-0.581, -0.654, -0.558 and -0.640, t=-4.285, -5.157, -3.938 and -4.863, all P<0.001). Multiple linear regression analysis showed that ASM and grip strength had no significant correlation with basal respiration, maximal respiration, ATP production, spare respiratory capacity or proton leak of mitochondria in PBMCs. Conclusions:Age-related mitochondrial oxidative respiration in PBMCs can reflect changes in muscle strength and muscle mass and, combined with grip strength and ASM, may be considered as a biomarker for the evaluation of sarcopenia in the elderly.
6.Correlation analysis between the test times for dual-task timed up-and-go test and geriatric depression risk in the elderly
Xiao WANG ; Qianqian ZHU ; Juan LIU ; Yunlu SHENG ; Aisen ZHANG ; Shu CHEN ; Guoxian DING ; Qiangwei TONG
Chinese Journal of Geriatrics 2020;39(11):1311-1313
Objective:To investigate the correlation between depression risk and the test time for dual-task timed up-and-go(TUG)test in the elderly.Methods:A total of 193 elderly volunteers aged 60 years and over who lived in the Nanjing community of Jiangsu Province were recruited.The Geriatric Depression Scale(GDS)was used to screen for geriatric depression.The single-task TUG(TUG-single), TUG with additional operational tasks(TUG-manual)and TUG with additional cognitive tasks(TUG-cognitive)were tested in all subjects.The differences in test times taken to complete TUG-single, TUG-manual and TUG-cognitive tests were analyzed by ANOVA.The correlation of GDS scores with test time for TUG-single, TUG-manual, TUG-cognitive was analyzed by using Pearson's correlation.Results:The average test times for TUG-cognitive and TUG-manual tests were longer than that for TUG-single test( P<0.0001). The higher the GDS score, the longer the TUG-single test time, with a significantly positive correlation between GDS and the test time for TUG-single( r=0.2261, P=0.0016). Similarly, GDS score showed significantly positive correlations with the test time for TUG-manual( r=0.2359, P=0.0010)and the TUG-cognitive test time( r=0.1946, P=0.0067). Conclusions:The increase of depression risk is significantly and positively correlated with the prolongation of the TUG test time in the elderly.The TUG test can be used to assess the functional mobility in elderly patients with depression.
7.Clinical efficacy and safety of decitabine combined with CAG regimen in treatment of elderly patients with acute myeloid leukemia: a Meta-analysis
Rong CHEN ; Feng ZHANG ; Guilan LAI ; Yachun CHEN ; Guoxian CUI ; Jianzhen SHEN
Journal of Leukemia & Lymphoma 2020;29(8):488-494
Objective:To analyze the clinical efficacy and safety of decitabine combined with CAG regimen in treatment of elderly patients with acute myeloid leukemia (AML).Methods:Decitabine combined with CAG regimen (experimental group) and CAG regimen alone (control group) were used to treat elderly patients with AML. The randomized controlled trials (RCT) were retrieved from PubMed database, Cochrane Library, Embase database, China Notional Knowledge Infrastructure (CNKI), Wanfang database and VIP database and references listed in all studies. The data of RCT that met the inclusion criteria were extracted, and the quality was evaluated and cross-checked independently according to Cochrane Handbook for Systematic Reviews of Interventions, and then Meta-analysis was conducted by using StataMP 14.0 software.Results:A total of 16 studies and 1 090 patients were included. Compared with the control group, the experimental group had a higher complete remission rate and total effective rate, and the differences were statistically significant ( RR=1.63, 95% CI 1.40-1.89, P < 0.01; RR=1.39, 95% CI 1.27-1.51, P < 0.01). In terms of adverse reactions, the incidence of fever in the experimental group was higher than that in the control group, and the difference was statistically significant ( RR=2.06, 95% CI 1.54-2.75, P < 0.01). Conclusion:Meta-analysis showed that decitabine combined with CAG regimen has a better clinical efficacy in the treatment of elderly patients with AML, but there are more severe adverse reactions.
8.One patient with severe phenol burn complicated with acute poisoning
Xuanliang PAN ; Guoxian CHEN ; Chuangang YOU ; Chunmao HAN ; Pengcheng WU
Chinese Journal of Burns 2020;36(8):746-747
On April 26, 2018, a 55-year-old male patient with severe phenol burn complicated with acute poisoning was admitted to the Second Affiliated Hospital of Zhejiang University School of Medicine. The patient quickly developed the symptoms of central nervous system including blurred consciousness and restlessness, anuria, and respiratory failure. After self-rescue before admission and a series of measures in hospital including wound decontamination to reduce phenol absorption, rapid massive infusion and hemodialysis+ hemoperfusion, continuous renal replacement therapy for speeding up phenol excretion and organ function maintenance, the poisoning symptoms were effectively alleviated, and the patient was finally rescued successfully and discharged on post injury day 29. This case suggests that early hemodialysis combined with hemoperfusion and continuous renal replacement therapy are effective methods for treating severe phenol burn complicated with acute poisoning.
9.Observation on efficacy of artificial liver plasma bilirubin adsorption for treatment of patients with severe hepatitis B
Jianying GUO ; Lingxin CHEN ; Ruixi YANG ; Jun RUAN ; Mingxin LIU ; Guoxian KOU
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care 2019;26(1):62-64
Objective To observe the clinical efficacy of artificial liver plasma bilirubin adsorption for treatment of patients with severe viral hepatitis B (HBV). Methods A retrospective study was conducted, the 120 patients with severe HBV B and their historical data of having undergone treatment of artificial liver plasma bilirubin adsorption admitted to Department of Respiration of Mianyang Central Hospital from August 2015 to August 2017 were collected, and there were 68 cases in the cirrhotic group and 52 cases in the non-cirrhotic group. The indexes of liver function and coagulation function before and after the treatment of artificial liver plasma bilirubin adsorption were collected; the differences of alanine aminotransferase (ALT), aspartate aminotransferase (AST), glutamine transferase (GGT), alkaline phosphatase (ALP), lactate dehydrogenase (LDH), total protein (TP), albumin (Alb), globulin (Glo), prothrombin time (PT), prothrombin activity (PTA), total bilirubin (TBil) and indirect bilirubin (IBil), total bile acid (TBA), etc were compared between cirrhotic group and the severe hepatitis B non-cirrhotic group. Results The levels of ALT, AST, ALP, LDH after artificial liver plasma bilirubin adsorption therapy were lower than those before the treatment [ALT (U/L): 138.8±26.2 vs. 993.4±185.2, AST (U/L): 121.7±119.9 vs. 798.7±226.8, ALP (U/L): 129.7±8.1 vs. 178.9±14.1, LDH (μmol·L-1·s-1·L-1): 4.50±0.32 vs. 8.15 ±1.75, all P < 0.05], PTA was higher than that before the treatment [(43.2±25.6)% vs. (30.0±16.1)%, P < 0.05]. After the treatment, the decline rate of ALP, TBil, and TBA of non-cirrhotic group was higher than those in cirrhotic group (ALP: 34.20% vs. 17.80%, TBil: 39.10% vs. 18.10%, TBA:30.70% vs. 5.00%, P < 0.05), the elevation rate of PTA in non-cirrhotic group was also higher than that in cirrhotic group (52.50% vs. 25.10%, P < 0.05). Conclusion Artificial liver plasma bilirubin adsorption therapy is effective for treatment of patients with severe HBV B, particularly the effect being good on the early severe viral HBV B non-cirrhotic group.
10. One case of severe burn complicated with severe acute pancreatitis characterized by hypoglycemia
Caidan QU ; Mingyan SHEN ; Haifei LU ; Fuchang LU ; Guoxian CHEN
Chinese Journal of Burns 2019;35(8):617-618
A 44 years old male patient suffered from flame burn of 20% total body surface area was admitted to our hospital on February 14th, 2018. On admission, his abdominal CT was not obviously abnormal. Eleven hours after burn, the patient had left upper abdominal pain, accompanied by reduction of urine output. Then he suffered from sudden hypotension and hypoglycemia. Acute pancreatitis was diagnosed by abdominal CT reexamination. Low glucose level was ameliorated slowly through positive rescue, and pancreatitis crisis progressed rapidly. The family members gave up rescue care, and patient discharged. The case indicates that physicians should pay attention to glucose levels of severe burn patients, and be cautious of appearance of postburn pancreatitis.

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