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.Prevalence of thyroid nodules and its influencing factors in adult female population in Chengdu in 2017 - 2022
Yuandong LEI ; Yong WEN ; Wenyi LUO
Journal of Public Health and Preventive Medicine 2024;35(5):89-92
		                        		
		                        			
		                        			Objective  To investigate the prevalence of thyroid nodules and its influencing factors in adult women from 2017 to 2022 in Chengdu.  Methods  A total of 4 612 adult female patients with thyroid nodules in the 2nd Affiliated Hospital of Chengdu Medical College, Nuclear Industry 416 Hospital from January 2017 to December 2022 were selected and included in the study group. Among the 4 027 females without thyroid nodules diagnosed by physical examination in the hospital during the same period were matched for age and included in the control group. The differences in general data and thyroid-related serological parameters between the two groups were compared and the influencing factors of thyroid nodules and the epidemiological characteristics of thyroid nodules were analyzed.  Results  Increased Body mass index (BMI) (OR=1.104), serum anti-thyroglobulin antibodies (TGAb) (OR=1.150) and thyroid peroxidase antibody (TPOAb) (OR=1.143) levels, diabetes mellitus (OR=1.107) and family history of thyroid disease (OR=1.271) were risk factors for thyroid nodules; high quality of life and high education level were protective factors for thyroid nodules. Physical examination screening (59.67%) was the most common way to detect thyroid nodules. Influenced by the COVID-19 epidemi, physical examination screening in the past 3 years accounted for a lower proportion of thyroid nodules found (53.18%) than the pre-epidemic level (64.10%). Conclusion  Strengthening thyroid screening and popular science popularization of thyroid nodules in key target populations is the focus of thyroid nodule prevention and treatment in Chengdu in the future.
		                        		
		                        		
		                        		
		                        	
3.Evaluation of isolated gastric varices 1 treated with tissue glue and metal clips (21 cases)
Fulong ZHANG ; Yuandong ZHU ; Jing XU ; Xincheng XIE ; Qianneng WU ; Haihua XUE ; Lei FANG ; Dan ZHOU ; Zhiwang JIN ; Yan SHI
China Journal of Endoscopy 2017;23(7):100-103
		                        		
		                        			
		                        			Objective To evaluate the clinical effect and efficacy of endoscopy treatment for isolated gastric varices 1 with tissue glue and metal clips. Metheds The clinical date of 21 patients who treated tissue glue and metal clips were retrospectively analyzed from Jan 2015 to Dec 2016. Results The treatments were completed successfully and reviewed by endoscopy after 1 week, 1 month, 3 months, 6 months. The gastric varices were reduced, and the serious complications of bleeding, embolism were little. Conclusion The endoscopy treatment for isolated gastric varices 1 with tissue glue and metal clips is contributed to clinical effect, and the treatment provides a reference for clinical treatment.
		                        		
		                        		
		                        		
		                        	
4.Influence of intensive lipid lowering with atorvastatin on carotid intima-media thickness and vascular endothelia function in patients with geriatric carotid plaque
Yongxue YANG ; Lin ZHANG ; Jianguo LEI ; Yan SHEN ; Daxing YANG ; Yuandong HUANG ; Xiaoping ZHAO ; Xiaoli DU
Clinical Medicine of China 2009;25(12):1246-1250
		                        		
		                        			
		                        			Objective To observe the changes of carotid intima-media thickness(CIMT) and vascular endothelia function in patients with geriatric carotid plaque before and after intensive lipid lowering was performed.Methods 102 patients diagnosed with carotid plaque were ramdomly divided into common group (atorvastatin 10 mg/d,n=48) and intensive lipid lowering group (atorvastatin 20 mg/d,n=54).After one year of treatment,the fasting venous blood total cholesterol (TC),low density lipoprotein cholesterol (LDL-C),high density lipeprotein cholesterol (HDL-C) and triglyceride (TG) were assayed,and the thickest and thinnest CIMT and brachial arterial.endothelium dependent diastolic function (FMD) and carotid artery plaque index(PI) were measured by ultrasound.Results Two groups in the thickest CIMT and PI had no significant difference before and after treatment (P>0.05).The levels of FMD,TC,LDL-C,TG and the thinnest CIMT had significant difference before and after therapy [common group:GIMT(0.85±0.20)mm,(0.83±0.22) mm,FMD(3.85±1.41)%,(7.91±1.05)%,TC(6.46±1.05) mmol/L,(4.82±1.26) mmol/L,LDL-C (4.71±1.00) mmol/L,(3.16±1.00) mmol/L,TG (1.55±0.45) mmol/L,(1.49±0.44) mmol/L;intensive lipid lowering group:CIMT(0.84±0.20) mm,(0.63±0.17) mm,FMD (3.74±1.38) %,(0.25±1.58)%,TC (6.36±1.06) mmol/L,(4.10±1.00) mmol/L,LDL-C (4.73±1.01) mmol/L、(2.28±1.26) mmol/L,TG (1.56±0.53) mmol/L,(1.50±0.49) mmol/L,P<0.05].After one year's therapy,the difference in intensive lipid lowering group was more obvious than in common group (P<0.05).Conclusions Intensive lipid lowering therapy is more effective to decrease TC,LDL-C and CIMT and to improve the vascular endothelia function.Atorvastatin is effective to stabilize the plaque and to retard the atheroscleresis development.
		                        		
		                        		
		                        		
		                        	
            

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