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1.
Chinese Journal of Pancreatology ; (6): 190-193, 2019.
Article in Chinese | WPRIM | ID: wpr-753379

ABSTRACT

Objective To analyze the clinical features of familial partial lipodystrophy type 3 (FPLD3) with recurrent pancreatitis and its relationship with peroxisome proliferator-activated receptor gamma ( PPARG) gene mutation. Methods A retrospective analysis of the clinical features of a 7 years and 5 months old child with FPLD3 ( first admission ) complicated with recurrent pancreatitis was conducted. Peripheral blood samples from the child and parents were collected and high-energy sequencing technology was used to screen genes related to lipid metabolism and glucose metabolism diseases. PPARG gene mutation detection was performed. Literatures were searched to analyze the clinical features and PPARG gene mutation sites of FPLD3 with recurrent pancreatitis. Results In this case, the patient was admitted to the hospital because of bilateral elbow, knee joint extension and hip miliary lipoma in recent month. The laboratory indicators indicated that the triacylglycerol was increased to 26 mmol/L, and pancreatitis appeared repeatedly three times. Genetic sequencing showed that there was a heterozygous mutation c. 70G>A ( p. 24, amino acid V>I) in the third exon of PPARG gene, and the child was diagnosed as FPLD3. There were no reports of FPLD3 children in China. There were 2 cases of FPLD3 reported abroad. All cases were girls, and the main clinical manifestations include fat atrophy of the extremities and glutes and increased fat storage in the face, neck and trunk. One had a PPARG nonsense mutation ( p. 355, Y > X), and the other had a PPARG missense mutation,c.1270G >A(E5) (p. 424, D >N). Conclusions FPLD3 associated gene PPARG missense mutation c. 70G > A ( E3 ) ( p. 24, V > I ) was harmful. This case with FPLD3 combined with recurrent pancreatitis was the first reported in China so far.

2.
Chinese Journal of Clinical Nutrition ; (6): 344-348, 2018.
Article in Chinese | WPRIM | ID: wpr-744601

ABSTRACT

Objective To investigate the efficacy and safety of nasogastric feeding tube placed by endoscopy to give enteral nutrient solution in the pediatric intensive diseases.Methods A retrospective analysis of 30 children with serious illness who were given enteral nutrient solution through the nasogastric feeding tube placed by endoscopy from January 2013 to May 2016 in our hospital was conducted including 12 boys and 18 girls aging from 2 months to 14 years with the mean as (6.86±3.44) years old.Catheterization condition including catheter insertion time after hospitalization,catheter maintenance time,hospital stay and retention time after discharge,postoperative complications after catheterization,prognostic indications including anal exhaust and defecation time,blood urine amylase and returning to normal time,and changes of the indicators for nutrition including total protein,albumin,prealbumin,retinol binding protein were analyzed.Results Catheter insertion time after hospitalization was (16.13 ± 10.51) days,catheter maintenance time (21.35± 9.62) days,hospitalization time after catheterization (20.10±8.96) days and hospital stay (36.23± 14.20) days.10 cases (33.3%) maintained the catheter for (11.10±4.65) days after the discharge.The anal exhaust time was (2.84±3.32) days and the defecation time (4.55±3.35) days;The urinary amylase significantly deceased three days after catheterization compared with that of one day before catheterization (P =0.047);Serum total protein,albumin,prealbumin and retinol binding protein increased three days after catheterization compared with that of one day before catheterization,but the difference was not statistically significant (P>0.05).5 children (17%) had complications including 3 children of abdominal distension and 2 children of vomiting.Conclusions Nasogastric feeding tube placed by endoscopy to give enteral nutrient solution in the pediatric intensive diseases can improve the intestinal and pancreatic function,recover their nutritional status to some extent and be controlled safely.However,the waiting time for catheterization and the hospital stay after catheterization are relatively long.The implementation of this technology and the awareness of its safety need be strengthened.

3.
International Journal of Pediatrics ; (6): 442-446, 2018.
Article in Chinese | WPRIM | ID: wpr-692526

ABSTRACT

Intestinal barrier dysfunction refers to the damage or even atrophy of the intestinal mucosa,disorder of intestinal microbial population and increased intestinal permeability caused by a variety of factors,resulting in the insertion of bacterial and/or endotoxin translocation into other tissues and/or blood circulation,induction and/or aggravation systemic multiple organ dysfunction and inflammatory response.The destruction of the intestinal barrier is associated with many gastrointestinal disorders,bur also accompanied by parenteral pathological conditions,such as allergic diseases.Therefore,maintaining a healthy intestinal barrier is critical to children.At present,there are relatively few studies on the intestinal barrier dysfunction in children.This paper reviews the recent progress in the pathogenesis of intestinal barrier in children.

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