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.Correlation between abdominal fat measured by ultrasound and bone quality in men
Siping ZHU ; Wei LIN ; Juan LIU ; Guoxian DING ; Yunlu SHENG
Chinese Journal of Geriatrics 2023;42(9):1077-1082
Objective:To explore the feasibility of using ultrasound to evaluate the abdominal fat volume to predict bone quality.Methods:A total of 376 men, aged from 34 to 90 years, were recruited.The trabecular bone score(TBS)was measured by TBS iNsight ? software.Bone mineral density(BMD)of the femoral neck, total hip, and lumber spine, as well as android and gynoid fat mass were measured using dual-energy X-ray absorptiometry(DXA).Preperitoneal fat thickness and intraperitoneal visceral fat thickness were assessed by ultrasound. Results:BMD of the femoral neck, total hip, and lumber spine was significantly positively correlated with body mass index(BMI)( r=0.346, 0.378, 0.218, all P<0.001), while TBS was significantly negatively associated with BMI( r=-0.353, P<0.001); Femoral neck BMD, lumbar BMD and TBS were positively correlated with total lean mass( β=0.296, P<0.001; β=0.280, P<0.001; β=0.182, P=0.009; respectively), while femoral neck BMD, total hip BMD and TBS were negatively correlated with total fat mass( β=-0.161, P=0.036; β=-0.160, P=0.041; β=-0.354, P<0.001; respectively).Compared with fat mass, BMD was more closely correlated with BMI( P<0.001), while TBS was negatively correlated only with android fat mass( β=-0.297, P=0.017).TBS was inversely associated only with visceral fat thickness( β=-0.244, P=0.04), but not preperitoneal fat thickness( β=-0.119, P=0.256). Conclusions:Abdominal fat mass, especially intraperitoneal visceral fat mass, may have adverse effects on bone quality.Intraperitoneal visceral fat thickness measured by ultrasound is helpful for the prediction of bone quality.
3.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.
4.Design and preliminary application of 3D-printed vertebral bodies in spinal tumor surgery
Jiachang WU ; Xiuwang LI ; Guofang FANG ; Weida ZHUANG ; Zhenquan ZHOU ; Wengang CUI ; Yunzhi LIN ; Guoxian PEI ; Hongxun SANG
Chinese Journal of Orthopaedic Trauma 2020;22(10):855-861
Objective:To explore the significance of digital orthopedic technology in surgical plan for spinal tumor and the preliminary outcomes of 3D printed vertebral bodies in spinal tumor surgery.Methods:The clinical data of 2 patients were retrospectively analyzed who had had a 3D printed vertebral body implanted at Center of Orthopaedics, Shenzhen Hospital from June 2018 to December 2019. One was a 32-year-old male, diagnosed with cervical neurinoma; the other was a 27-year-old female, diagnosed with giant cell tumor of lumbar bone. 3D virtual reconstruction of tumor and surrounding structures was established via Mimics software for surgical plan. Virtual osteotomy was simulated, their disease models and guide templates were 3D printed, and their metal artificial vertebral bodies were 3D printed after personalized design of the vertebral body diameter, porosity and procedures of reconstruction and fixation. Lesion resection and prosthesis implantation were carried out in accordance with the preoperative plan. After operation, the motor function of cervical or lumbar vertebrae, tumor recurrence, and spinal stability reconstructed were regularly observed.Results:Resections and reconstructions went uneventfully in both cases. The 2 patients were followed up for 21 and 13 months respectively. Their postoperative images showed that their 3D printed vertebral bodies fitted the neighboring vertebral bodies well. The spinal stability was reconstructed without any loosening or periprosthetic osteolysis, and the tumors were removed completely with no recurrence in both cases. Their spinal motor function was satisfactory.Conclusions:Digital orthopedic technology can offer accurate guidance in the treatment of spinal tumors. It is necessary to consider local physiological anatomy in personalized design of a metal vertebral body 3D printed. Clinical application of 3D printed metal vertebral bodies is a new strategy for spinal reconstruction following spinal tumor resection.
5.Correlation of CYP2C19 polymorphism and clopidogrel efficacy after percutaneous coronary intervention in Zunyi of Guizhou province
Mu LIN ; Qingqing MA ; Yifeng TANG ; Xiaojing HAN ; Yunhua CHEN ; Zhu TANG ; Guoxian SHI
Chinese Journal of Primary Medicine and Pharmacy 2018;25(20):2585-2589
Objective To investigate the relationship between CYP 2C19 gene polymorphisms and clopidogrel efficacy in coronary heart disease patients after percutaneous coronary intervention (PCI).Methods From January 2016 to December 2017,62 patients with acute coronary syndromes and treated with PCI in Guizhou Aerospace Hospital were recruited, CYP2C19 genotype, ADP -induced platelet aggregation rate and myocardial enzymes and other indicators were detected before operation .The myocardial enzymes were measured 24 hours after PCI.According to different metabolic types,the patients were grouped,the above indicators were compared.Results The CYP2C19*1/*1 was 37.10%,CYP2C19*1/*2 was 35.48%,CYP2C19*1/*3 was 11.29%,CYP2C19*2/*2 was 12.90%,CYP2C19*2/*3 was 3.23% and CYP2C19*3/*3 was 0.00%.The LDH,AST,CK,CK-MB and α-HBDH in the PCI patients after operation were significantly higher than those before operation (t=0.019,0.040, 0.044,0.022,0.014,all P<0.05).But ADP induced platelet aggregation rate and myocardial enzymes and other indicators among fast metabolism group,intermediate metabolic group and slow metabolic group had no statistically significant differences (all P >0.05).Conclusion CYP2C19 mutation frequency in the Chinese population is relatively large,the sample size of this study is less ,the relationship between clopidogrel resistance and the specific genotype can not be obtained ,it need to increase the sample size and comprehensive multi -factor consideration .
6.Effect of bladder training on bladder function recovery in the male patients after mid-low rectal cancer surgery: a prospective, open, randomized controlled study.
Yuhong XIE ; Xiaojie WANG ; Zhifen CHEN ; Pan CHI ; Guoxian GUAN ; Huiming LIN ; Xingrong LU ; Ying HUANG ; Zhengqiong WANG ; Mingxing WANG ; Jie CHEN ; Xiuying LI ; Min WANG ; Xuezhen ZHENG ; Ximei ZHENG ; Ran LI ; Qianqian LIN
Chinese Journal of Gastrointestinal Surgery 2018;21(11):1255-1260
OBJECTIVE:
To investigate the efficacy and safety of the bladder training in male patients before urinary catheter removal after mid-low rectal cancer surgery.
METHODS:
This was a prospective, open, randomized controlled study.
INCLUSION CRITERIA:
male patients; pathologically diagnosed as mid-low rectal adenocarcinoma; distance from tumor lower edge to anal margin ≤10 cm; standard radical surgery for rectal cancer, including intestinal resection and regional lymph node dissection.
EXCLUSION CRITERIA:
previous history of benign prostatic hyperplasia or history of prostate surgery; bladder dysfunction such as dysuria and urinary retention before surgery; local resection of rectal tumor or extended resection. According to the above criteria, 92 patients who underwent colorectal surgery at the Union Hospital of Fujian Medical University from June to December 2016 were prospectively included. The patients were randomly divided into bladder training group (n=43) and bladder non-training group (n=49) according to the random number table method. The study was approved by the Ethics Committee of the Union Hospital of Fujian Medical University (ethical approval number: 2016KY005) and registered with the China Clinical Trial Registration Center (ChiCTR) (registration No.ChiCTR-IOR-16007995). The implementation of patient's treatment measures, the data collection and analysis were based on the three-blind principle, using envelopes for distribution concealment. In the bladder training group, bladder training was routinely performed from the first day after operation to catheter removal, and in bladder non-training group the catheter was kept open till its removal. The catheter was removed in the early morning at the 5th day after surgery, and the spontaneous urine output was recorded and the residual urine volume of the bladder was measured after the first urination. The international prostate symptom score (IPSS) was applied to evaluate the patient's urinary function before and after surgery.
RESULTS:
The age of whole group was (58.6±10.9) years old, the body mass index was (22.4±2.7) kg/m , and the distance from tumor lower edge to anal margin was (6.5±1.9) cm. The baseline data, such as age, body mass index, distance from tumor lower edge to anal margin, preoperative IPSS score, preoperative bladder residual urine volume, neoadjuvant radiotherapy and chemotherapy, preventive ileostomy and surgical procedure were not significantly different between two groups (all P>0.05). There was no significant difference in IPSS scores evaluated at the second day (3.6±4.0 vs. 3.5±3.4, t=0.128, P=0.899) and one month (3.7±2.9 vs. 3.0±3.1, t=1.113, P=0.269) after catheter removal between the bladder training group and bladder non-training group. No significant difference in the postoperative residual urine volume of bladder (media 44 ml vs. 24 ml, Z=-1.466, P=0.143), the first spontaneous urination volume (median 200 ml vs. 150 ml, Z=-1.228, P=0.219) after catheter removal, and postoperative hospital stay [(8.2±4.5) days vs. (9.1±5.5) days, t=-0.805, P=0.423] was found. Urinary infection rate was 20.9%(9/43) in the training group, which was even higher than 8.2%(4/49) in the non-training group, but the difference was not significant(χ²=3.077, P=0.079). No patient needed re-catheterization in either group.
CONCLUSIONS
The routine bladder training after mid-low rectal cancer surgery does not improve the urinary function, and can not reduce the residual urine volume of bladder after catheter removal. This routine clinical practice is not helpful for the bladder function recovery after rectal cancer surgery.
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China
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Humans
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Laparoscopy
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Male
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Middle Aged
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Prospective Studies
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Recovery of Function
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Rectal Neoplasms
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surgery
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therapy
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Treatment Outcome
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Urinary Bladder
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surgery
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Urinary Retention
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therapy
8.Discovery, anatomy and clinical significance of the mesorectal finish line of total mesorectal excision.
Pan CHI ; Xiaojie WANG ; Guoxian GUAN ; Huiming LIN ; Ying HUANG ; Weizhong JIANG
Chinese Journal of Gastrointestinal Surgery 2017;20(10):1145-1150
OBJECTIVETo investigate the surgical endpoint of separation of mesorectum during total mesorectal excision (TME), suggesting the concept of "terminal line", in order to perform above separation better for middle-low rectal cancer.
METHODSGross anatomy of mesorectum endpoint from 81 surgical specimens of low anterior resection (LAR, 5 to 6 cm of distance from low margin of cancer to anal edge) and 71 surgical specimens of abdominal perineal resection(APR, <5 cm of distance from low margin of cancer to anal edge) was observed. Clinicopathological, magnetic resonance imaging(MRI) morphological and operative video data of 108 low rectal cancer patients undergoing TME at Department of Colorectal Surgery of Affiliated Union Hospital of Fujian Medical University between March 2016 and March 2017 were retrospectively analyzed. Rates of the "terminal line" exposure of TME between different surgical procedures(robot or laparoscope) and different anatomical instruments (ultrasonic knife or electric hook) were compared for evaluating the site of separation endpoint.
RESULTSThe gross anatomical findings of specimens from LAR showed that the rectal wall below the levator hiatus level had no mesorectum attachment, and gross anatomical finding of specimens from APR showed that the levator hiatus was the most terminal attachment margin of the mesorectum whose thickness was only 2 millimeters in levator hiatus level. MRI morphological findings of 108 low rectal cancer patients showed that high signal intensity of mesorectal tissue on T2 MRI gradually thinned to the level of levator hiatus. High quality laparoscopic and robotic operation revealed a white linear structure formed by pelvic fascia, which covered and surrounded levator hiatus, so the "terminal line" of TME was defined. The operation video of 108 revealed that the overall exposure rate of the "terminal line" was 45.4%, the exposure rate of "terminal line" in robotic surgery was similar to that in laparoscopic surgery [(60.0%(18/30) vs. 39.7%(31/78), P=0.058], while such rate in ultrasonic knife was superior to electric hook [55.4%(41/74) vs. 23.5%(8/34), P=0.002]. Laparoscopy combined with ultrasonic knife can also obtained a high exposure rate of 52.3%(23/44).
CONCLUSIONSThe white linear structure referring to pelvic fascia which covers and surrounds levator hiatus is the "terminal line" of TME. The use of an ultrasonic knife is easier to expose this structure and to guarantee the quality of TME.
9.Biphasic calcium phosphate/polyvinyl alcohol scaffolds prepared by 3D-printing at room temperature and their impact on in vitro osteogenic differentiation
Yue SONG ; Kaifeng LIN ; Shu HE ; Shuaishuai ZHANG ; Bin LIU ; Long BI ; Guoxian PEI
Chinese Journal of Orthopaedic Trauma 2017;19(5):409-416
Objective To prepare biphasic calcium phosphate/polyvinyl alcohol scaffolds by 3D printing at room temperature and explore the effect of 3D scaffolds on in vitro osteogenic differentiation of the bone marrow mesenchymal stem cells (BMSCs).Methods After biphasic calcium phosphate and polyvinyl alcohol solutions were mixed,the biphasic calcium phosphate/polyvinyl alcohol composite scaffolds were prepared by room temperature 3D printing combined with freeze drying technique.Non-printing scaffolds were prepared by injection molding.The surface microstructure,porosity,elastic modulus and hydrophilicity of the 2 sorts of scaffolds were measured.The cytological experiments were carried out in 3 groups (n =3):printed scaffold group,non-printed scaffold group and blank control group (no scaffold).After the BMSCs were seeded onto the scaffolds for 7 and 14 days,the 3 groups were compared in terms of cellular proliferation,alkaline phosphatase activity and expression levels of osteogenesis-related genes.Results 3D composite scaffolds with controllable pore size and porosity were prepared successfully,with an average porosity of 59.6% ± 3.6% and an average elastic modulus of 429.3 ± 54.3 kPa.After culture for 7 and 14 days,the cellular absorbance values in the printed scaffold group (0.987 ± 0.047 and 1.497 ± 0.076) were significantly higher than those in the non-printed scaffold group (0.767 ±0.063 and 1.181 ±0.098) (P < 0.05) which were in turn significantly higher than those in the blank control group (0.532 ±0.046 and 0.895 ± 0.062) (P < 0.05).After culture for 7 and 14 days,the ALP activity and expression levels of osteogenesis-related genes in the printed and non-printed scaffold groups showed no significant between-group differences (P > 0.05),but were significantly higher than those in the blank control group (P < 0.05).Conclusions Tissue-engineered composite biphasic calcium phosphate/polyvinyl alcohol scaffolds with controllable pore size and good connectivity can be prepared by freeze-drying and room temperature 3D printing techniques.Co-culture of the scaffolds and BMSCs in vitro promotes adhesion,proliferation and osteogenic differentiation of the cells.
10.Fabrication of a bionic artificial bone scaffold using a room temperature three dimensional printing technique
Kaifeng LIN ; Shu HE ; Yue SONG ; Zheng WANG ; Long BI ; Guoxian PEI
Chinese Journal of Orthopaedic Trauma 2016;18(5):421-427
Objective To prepare a bionic artificial bone scaffold using a room temperature three dimensional (3D) printing technique and evaluate its biocompatibility and bioactivity in vitro.Methods A room temperature 3D printing technique was applied to fabricate 3D bionic artificial bone scaffolds using collagen/hydroxyapatite.The physico-chemical structure,porosity and mechanical strength of the scaffolds were assessed.The extract liquid of scaffolds was cocultured with bone mesenchymal stem cells (BMSCs) to evaluate the toxicity of scaffolds.There were 3 experimental groups:blank control with no scaffolds,printed scaffolds group and non-printed scaffolds group.The condition of BMSCs on the scaffolds was observed via scanning electron microscopy(SEM) and immunostaining.3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2-H-tetrazolium bromide (MTT) assay and SEM were applied to monitor the proliferation of BMSCs on the scaffolds.At last,alkaline phosphatase (ALP) activity and mRNA expression levels of osteogenesis-related genes were detected to assess the osteoinductive property of the scaffolds.Results The 3D printed scaffolds fabricated in the present study were characterized by highly interconnected pores which were controllable and even in size.The cross section of the scaffolds presented an irregular honeycomb-like microstructure.The porosity of printed 3D scaffolds (71.14% ± 2.24%) was significantly higher than that of non-printed scaffolds (59.04% ±2.98%) (P < 0.05).The physico-chemical structures of the materials were preserved after printing without additional cytotoxicity.The MTT results at 7 and 14 days revealed that the printed scaffolds had a significantly more cell numbers than the non-printed scaffolds(P < 0.05).SEM showed that the BMSCs adhered well onto the printed scaffolds and proliferated and migrated through the pores.Compared with the blank control,the printed scaffolds showed obviously better osteogenic outcomes.Conclusion The 3D bionic artificial bone scaffolds of collagen/hydroxyapatite manufactured by a room temperature 3D printing technique can provide a good extracellular matrix for BMSCs to proliferate and differentiate.

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