1.Comprehensive evaluation of single-anastomosis duodenal-ileal bypass with sleeve gastrectomy in obese patients based on efficacy and nutrition
Lifu HU ; Lun WANG ; Shixing LI ; Yang LIU ; Zheng ZHANG ; Minghao XIAO ; Zhenhua ZHANG ; Zhiqiang WEI ; Liang CUI ; Tao JIANG
Chinese Journal of Gastrointestinal Surgery 2024;27(9):945-952
		                        		
		                        			
		                        			Objective:To evaluate the 1-year postoperative efficacy and nutritional indicators of single-anastomosis duodeno-ileal bypass with sleeve gastrectomy (SADI-S) in obese patients.Methods:This retrospective observational study included patients with a body mass index (BMI) of ≥40.0 kg/m 2 regardless of other related metabolic diseases and patients with severe type 2 diabetes and a BMI between 27.5 and 40.0 kg/m 2. The clinical data of 66 obese patients who underwent SADI-S at the Bariatric and Metabolic Surgery Department of China-Japan Union Hospital of Jilin University from November 2018 to May 2022 were collected, including 53 cases of da Vinci robotic surgery and 13 cases of laparoscopic surgery. The patients comprised 38 men and 28 women with a median age of 35 (18–61) years and a mean preoperative BMI of 42.93 ± 6.82 kg/m 2. A total of 38 patients had type 2 diabetes, and 46 had hyperuricemia, 45 had hypertension, 35 had hyperlipidemia, 12 had hypercholesterolemia, and 12 had a high low-density lipoprotein (LDL) level. The main observation indicators were (1) intraoperative and postoperative conditions; (2) weight loss outcomes, including body weight, BMI, excess body weight loss (%EWL), and total body weight loss (%TWL) at 3, 6, and 12 months after surgery; (3) effects of treatment on metabolic disease; and (4) changes in nutrient indicators. Results:(1) Intraoperative and postoperative conditions: All patients successfully underwent SADI-S with neither conversion to laparotomy nor death. Four (6.1%) patients developed postoperative complications, and all of them recovered and were discharged after conservative or surgical treatment. (2) Weight loss outcomes: %EWL at 3, 6, and 12 months after surgery was 62.07 ± 26.56, 85.93 ± 27.92, and 106.65 ± 29.65, respectively, and %TWL was 22.67 ± 4.94, 32.10 ± 5.18, and 40.56 ± 7.89, respectively. Body weight and BMI 3 to 12 months after surgery were significantly lower than those before surgery (all P < 0.001). (3) Effect of treatment on metabolic disease: 3 to 12 months after surgery, fasting blood sugar, HbA1c, uric acid, systolic blood pressure, diastolic blood pressure, triglycerides, total cholesterol, LDL, and other indicators were significantly lower than those before surgery (all P < 0.05). Twelve months after surgery, the remission rates of diabetes, hyperuricemia, hypertension, hypertriglyceridemia, hypercholesterolemia, and high LDL were 100% (38/38), 65.2% (30/46), 62.2% (28/45), 94.3% (33/35), 100% (12/12), and 100% (12/12), respectively. (4) Changes in nutrient indicators: Compared with the preoperative nutrient levels, the hemoglobin and hematocrit levels were lower at 3 to 12 months after surgery, the total protein level was lower at 6 to 12 months after surgery, the albumin level was lower at 6 months after surgery, and the ferritin level was lower at 3 months after surgery. The differences were statistically significant (all P < 0.05). The incidence of anemia was 6.1% (4/66), hypoalbuminemia was 4.5% (3/66), and ferritin deficiency was 4.5% (3/66), all of which were improved or normalized through conservative treatment. Twelve months after surgery, 30 (45.5%) patients had vitamin A deficiency, 17 (25.8%) had vitamin E deficiency, 11 (16.7%) had folic acid deficiency, 2 had potassium deficiency (3.0%), 3 (4.5%) had calcium deficiency, 2 (3.0%) had magnesium deficiency, 9 (13.6%) had iron deficiency, and 16 (24.2%) had zinc deficiency. However, no relevant clinical symptoms occurred. Conclusions:SADI-S has a very significant effect on weight loss and alleviation of metabolic diseases. Nutrient deficiencies after SADI-S mainly involve vitamin A, vitamin E, zinc, and folic acid. The long-term efficacy and safety of SADI-S still need further follow-up observation.
		                        		
		                        		
		                        		
		                        	
2.Arthroscopic ligament reconstruction for chronic lateral ankle instability with multiple ligament laxity
Ruokun HUANG ; Bo LEI ; Feng LIU ; Mingzhen WU ; Kai XIAO ; Hao PAN ; Jingjing ZHAO ; Zhenhua FANG ; Wenjie HUANG
Chinese Journal of Orthopaedic Trauma 2024;26(10):850-857
		                        		
		                        			
		                        			Objective:To investigate the efficacy of arthroscopic anatomical reconstruction of the ligament with autologous semitendinosus tendon in the treatment of chronic lateral ankle instability (CLAI) complicated with multiple ligament laxity.Methods:A retrospective study was conducted to analyze the 34 patients with CLAI plus multiple ligament laxity who had been treated at Foot and Ankle Surgery Center, The Fourth Hospital of Wuhan from March 2014 to December 2021. They were 8 males and 26 females with an age of (32.2±5.6) years. The patients were divided into 2 groups based on their treatment methods. A reconstruction group of 20 cases were treated by arthroscopic reconstruction of the ligament with autologous semitendinosus tendon while a repair group of 14 cases treated by arthroscopic repair of the ligament with the modified Brostr?m procedure. The 2 groups were compared in terms of surgical time, and the American Orthopaedic Foot & Ankle Society (AOFAS) ankle-hindfoot score, visual analog scale (VAS) pain score, talar tilt (TT), anterior translation of the talus (ATT), and complications at the last follow-up.Results:The 2 groups were comparable because there were no statistically significant differences in the general data, AOFAS ankle-hindfoot score, VAS pain score, TT, or ATT before surgery between the 2 groups ( P > 0.05). The surgical time for the reconstruction group [(97.5±11.4) min] was significantly longer than that for the repair group [(53.6±10.7) min] ( P < 0.05). All the 34 patients were followed up for (35.4±3.5) months. The TT, ATT, AOFAS ankle-hindfoot score, and VAS pain score at the last follow-up were all significantly improved compared with the preoperative values in both groups ( P < 0.05). The AOFAS ankle-hindfoot score [(90.6±3.6) points], TT (6.0°±1.5°), and ATT [(3.6±1.4) mm] at the last follow-up in the reconstruction group were all significantly better than those in the repair group [(84.1±11.0) points, 8.6°±4.3°, and (6.6±4.1) mm] ( P < 0.05). There was no statistically significant difference in the VAS pain score between the 2 groups at the last follow-up ( P > 0.05). All incisions healed at one stage without such complications as nerve or vascular injury. CLAI recurrence occurred in 5 cases in the repair group, significant worse than that in the reconstruction group (no recurrence) ( P=0.015). Conclusion:In the treatment of CLAI complicated with multiple ligament laxity, arthroscopic anatomical reconstruction of the ligament with autologous semitendinosus tendon can effectively improve ankle function, enhance ankle stability, and reduce recurrence of the condition.
		                        		
		                        		
		                        		
		                        	
3.Comprehensive evaluation of single-anastomosis duodenal-ileal bypass with sleeve gastrectomy in obese patients based on efficacy and nutrition
Lifu HU ; Lun WANG ; Shixing LI ; Yang LIU ; Zheng ZHANG ; Minghao XIAO ; Zhenhua ZHANG ; Zhiqiang WEI ; Liang CUI ; Tao JIANG
Chinese Journal of Gastrointestinal Surgery 2024;27(9):945-952
		                        		
		                        			
		                        			Objective:To evaluate the 1-year postoperative efficacy and nutritional indicators of single-anastomosis duodeno-ileal bypass with sleeve gastrectomy (SADI-S) in obese patients.Methods:This retrospective observational study included patients with a body mass index (BMI) of ≥40.0 kg/m 2 regardless of other related metabolic diseases and patients with severe type 2 diabetes and a BMI between 27.5 and 40.0 kg/m 2. The clinical data of 66 obese patients who underwent SADI-S at the Bariatric and Metabolic Surgery Department of China-Japan Union Hospital of Jilin University from November 2018 to May 2022 were collected, including 53 cases of da Vinci robotic surgery and 13 cases of laparoscopic surgery. The patients comprised 38 men and 28 women with a median age of 35 (18–61) years and a mean preoperative BMI of 42.93 ± 6.82 kg/m 2. A total of 38 patients had type 2 diabetes, and 46 had hyperuricemia, 45 had hypertension, 35 had hyperlipidemia, 12 had hypercholesterolemia, and 12 had a high low-density lipoprotein (LDL) level. The main observation indicators were (1) intraoperative and postoperative conditions; (2) weight loss outcomes, including body weight, BMI, excess body weight loss (%EWL), and total body weight loss (%TWL) at 3, 6, and 12 months after surgery; (3) effects of treatment on metabolic disease; and (4) changes in nutrient indicators. Results:(1) Intraoperative and postoperative conditions: All patients successfully underwent SADI-S with neither conversion to laparotomy nor death. Four (6.1%) patients developed postoperative complications, and all of them recovered and were discharged after conservative or surgical treatment. (2) Weight loss outcomes: %EWL at 3, 6, and 12 months after surgery was 62.07 ± 26.56, 85.93 ± 27.92, and 106.65 ± 29.65, respectively, and %TWL was 22.67 ± 4.94, 32.10 ± 5.18, and 40.56 ± 7.89, respectively. Body weight and BMI 3 to 12 months after surgery were significantly lower than those before surgery (all P < 0.001). (3) Effect of treatment on metabolic disease: 3 to 12 months after surgery, fasting blood sugar, HbA1c, uric acid, systolic blood pressure, diastolic blood pressure, triglycerides, total cholesterol, LDL, and other indicators were significantly lower than those before surgery (all P < 0.05). Twelve months after surgery, the remission rates of diabetes, hyperuricemia, hypertension, hypertriglyceridemia, hypercholesterolemia, and high LDL were 100% (38/38), 65.2% (30/46), 62.2% (28/45), 94.3% (33/35), 100% (12/12), and 100% (12/12), respectively. (4) Changes in nutrient indicators: Compared with the preoperative nutrient levels, the hemoglobin and hematocrit levels were lower at 3 to 12 months after surgery, the total protein level was lower at 6 to 12 months after surgery, the albumin level was lower at 6 months after surgery, and the ferritin level was lower at 3 months after surgery. The differences were statistically significant (all P < 0.05). The incidence of anemia was 6.1% (4/66), hypoalbuminemia was 4.5% (3/66), and ferritin deficiency was 4.5% (3/66), all of which were improved or normalized through conservative treatment. Twelve months after surgery, 30 (45.5%) patients had vitamin A deficiency, 17 (25.8%) had vitamin E deficiency, 11 (16.7%) had folic acid deficiency, 2 had potassium deficiency (3.0%), 3 (4.5%) had calcium deficiency, 2 (3.0%) had magnesium deficiency, 9 (13.6%) had iron deficiency, and 16 (24.2%) had zinc deficiency. However, no relevant clinical symptoms occurred. Conclusions:SADI-S has a very significant effect on weight loss and alleviation of metabolic diseases. Nutrient deficiencies after SADI-S mainly involve vitamin A, vitamin E, zinc, and folic acid. The long-term efficacy and safety of SADI-S still need further follow-up observation.
		                        		
		                        		
		                        		
		                        	
4.Signal Transducer and Activator of Transcription 4-Induced UpRegulated LINC01278 Enhances Proliferation and Invasion of Non-Small Cell Lung Cancer Cells via the MicroRNA-877-5p/ Activating Transcription Factor 4 Axis
LinZhu YANG ; Yi XIAO ; ShouJun DENG ; DaiLing YAN ; ZhenHua LI ; Ying WANG ; ChangCheng LEI
Tissue Engineering and Regenerative Medicine 2024;21(4):595-608
		                        		
		                        			 BACKGROUND:
		                        			The purpose of this study was to investigate the specific effects of signal transducer and activator of transcription 4 (STAT4)-induced long intergenic nonprotein coding RNA 1278 (LINC01278) on the growth of non-small cell lung cancer (NSCLC) cells involved in the microRNA (miR)-877-5p/activated transcription factor 4 (ATF4) axis. 
		                        		
		                        			METHODS:
		                        			NSCLC tumor tissue and adjacent normal tissue were collected. Human normal lung epithelial cell BEAS-2B and human NSCLC cell lines (H1299, H1975, A549, H2228) were collected. The expression levels of STAT4, LINC01278, miR-877-5p, and ATF4 were detected. A549 cells were screened for subsequent experiments. The proliferation ability of cells was detected by colony formation experiment. Cell apoptosis was tested by flow cytometry. Scratch test and transwell assay were used to detect the migration and invasion ability of cells. Biological function of LINC01278 in NSCLC was confirmed by xenograft experiments. 
		                        		
		                        			RESULTS:
		                        			Low expression miR-877-5p and high expression of STAT4, LINC01278 and ATF4 were detected in NSCLC.Silenced LINC01278 in A549 cell depressed cell proliferation, migration and invasion, but facilitated cell apoptosis.LINC01278 was positively correlated with STAT4 and could directly bind to miR-877-5p. Upregulating miR-877-5p suppressed NSCLC cell progression, while downregulating miR-877-5p had the opposite effect. Upregulating miR-877-5p abrogated the effects of silenced LINC01278 on NSCLC cell progression. MiR-877-5p targeted ATF4. ATF4 upregulation could partly restore the carcinogenic effect of LINC01278 in vitro and in vivo. 
		                        		
		                        			CONCLUSION
		                        			Our data supports that STAT4-induced upregulation of LINC01278 promotes NSCLC progression by modulating the miR-877-5p/ATF4 axis, suggesting a novel direction for NSCLC treatment. 
		                        		
		                        		
		                        		
		                        	
5.Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency.
Mengjun XIAO ; Zhenhua XIE ; Jing LIU ; Xian LI ; Qiang ZHANG ; Zhenkun ZHANG ; Dongxiao LI
Chinese Journal of Medical Genetics 2023;40(7):787-794
		                        		
		                        			OBJECTIVE:
		                        			To explore the clinical and genetic characteristics of four patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
		                        		
		                        			METHODS:
		                        			Four children who had presented at the Children's Hospital Affiliated to Zhengzhou University between August 2019 and August 2021 were selected as the study subjects. Clinical data of the children were collected. The children were subjected to whole exome sequencing (WES).
		                        		
		                        			RESULTS:
		                        			All of the four children were diagnosed with MCADD. Blood amino acid and ester acyl carnitine spectrum test showed that the concentration of octanoyl carnitine (C8) was significantly increased. The main clinical manifestations included poor mental response (3 cases), intermittent diarrhea with abdominal pain (1 case), vomiting (1 case), increased transaminase (3 cases), and metabolic acidosis (2 cases). Five variants were identified by genetic testing, among which c.341A>G (p.Y114C) was unreported previously. Three were missense variants, one was frameshift variant and one was splicing variant.
		                        		
		                        			CONCLUSION
		                        			The clinical heterogeneity of MCADD is obvious, and the severity of the disease may vary. WES can assist with the diagnosis. Delineation of the clinical symptoms and genetic characteristics of the disease can facilitate early diagnosis and treatment of the disease.
		                        		
		                        		
		                        		
		                        			Child
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Acyl-CoA Dehydrogenase/genetics*
		                        			;
		                        		
		                        			Carnitine
		                        			;
		                        		
		                        			Genetic Testing
		                        			;
		                        		
		                        			Lipid Metabolism, Inborn Errors/genetics*
		                        			;
		                        		
		                        			Neonatal Screening
		                        			
		                        		
		                        	
6.Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene.
Zhenhua XIE ; Jing LIU ; Xian LI ; Mengjun XIAO ; Qiang ZHANG ; Zhenkun ZHANG ; Yaodong ZHANG ; Dongxiao LI
Chinese Journal of Medical Genetics 2023;40(7):842-846
		                        		
		                        			OBJECTIVE:
		                        			To explore the clinical features and genetic basis of a child with Galactosemia.
		                        		
		                        			METHODS:
		                        			A child who had presented at the Children's Hospital Affiliated to Zhengzhou University on November 20, 2019 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variants were validated by Sanger sequencing.
		                        		
		                        			RESULTS:
		                        			Clinical manifestations of the child have included anemia, feeding difficulty, jaundice, hypomyotonia, abnormal liver function and coagulation abnormality. Tandem mass spectrometry showed increased citrulline, methionine, ornithine and tyrosine. Urine organic acid analysis showed increased phenyllactic acid, 4-hydroxyphenylacetic acid, 4-hydroxyphenyllactic acid, 4-hydroxyphenylpyruvate and N-acetyltyrosine. Genetic testing revealed that the child has harbored compound heterozygous variants of the GALT gene, namely c.627T>A (p.Y209*) and c.370G>C (p.G124R), which were respectively inherited from her healthy parents. Among these, c.627T>A (p.Y209*) was known as a likely pathogenic variant, while c.370G>C (p. G124R) was unreported previously and also predicted as a likely pathogenic variant(PM1+PM2_Supporting+PP3_Moderate+PPR).
		                        		
		                        			CONCLUSION
		                        			Above discovery has expanded the spectrum of the GALT gene variants underlying Galactosemia. Patients with thrombocytopenia, feeding difficulties, jaundice, abnormal liver function and coagulation abnormality without obvious causes should be analyzed by screening of metabolic diseases in combination with genetic testing.
		                        		
		                        		
		                        		
		                        			Child
		                        			;
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Galactosemias/genetics*
		                        			;
		                        		
		                        			Genetic Testing
		                        			;
		                        		
		                        			Health Status
		                        			;
		                        		
		                        			Methionine
		                        			;
		                        		
		                        			Muscle Hypotonia
		                        			;
		                        		
		                        			Mutation
		                        			
		                        		
		                        	
7.The predictive effect of SDF-1 and CXCR4 on hematoma enlargement in early stage of hypertensive intracerebral hemorrhage
Zhenhua ZHANG ; Ning YU ; Xiao GUO ; Mingxin ZHU
Journal of Clinical Surgery 2023;31(11):1031-1034
		                        		
		                        			
		                        			Objective To explore the predictive effect of serum Stromal cell-derived factor 1(SDF-1)and C-X-C chemokine receptor type 4(CXCR4)on early hematoma enlargement in hypertensive intracerebral hemorrhage(HICH).Methods The clinical data of 79 patients with HICH in our hospital from January 2020 to June 2022 were retrospectively analyzed.According to the results of head CT reexamination after admission,the patients were divided into hematoma enlargement group and hematoma non enlargement group.The hematoma location of the first head CT examination,hematoma shape,systolic blood pressure level after admission,hematoma density uniformity,admission GCS score and serum SDF-1 and CXCR4 were compared between the two groups.Receiver operator characteristic curve(ROC)was used to evaluate the predictive value of SDF-1 and CXCR4.Results Among 79 patients with HICH,21 patients had increased bleeding.Univariate analysis showed that there were significant differences in hematoma shape,admission GCS score,systolic blood pressure and hematoma density between the two groups(all P<0.05).Logistic multivariate analysis showed that SDF-1 and CXCR4 were independent risk factors for hematoma enlargement in early stage of hypertensive intracerebral hemorrhage(respectively OR:1.460,1.362,respectively 95%CI:1.056~2.018,1.200~1.547,all P<0.05).ROC curve analysis showed that AUC of SDF-1 was 0.868(95%CI:0.688-1.000,P<0.005),specificity was 0.875,sensitivity was 0.778.The AUC of CXCR4 was 0.758(95%CI:0.557-0.948,P<0.05),the specificity was 0.750,and the sensitivity was 0.733.Conclusion The expression of SDF-1 and CXCR4 in patients with HICH is significantly increased,which is related to the early hematoma enlargement.SDF-1 and CXCR4 have high sensitivity and specificity in predicting the early hematoma enlargement in HICH.
		                        		
		                        		
		                        		
		                        	
8.Outcome of early endoscopic realignment with flexible cystoscope for pelvic fracture urethral injury
Jianwei WANG ; Fuwei LEI ; Xiao XU ; Zhenhua LIU ; Zhengqing BAO ; Haizhui XIA ; Jie WANG ; Guizhong LI ; Guanglin HUANG
Chinese Journal of Urology 2023;44(8):591-595
		                        		
		                        			
		                        			Objective:To explore the clinical outcome of early endoscopic realignment with flexible cystoscope for pelvic fracture urethral injury.Methods:We retrospectively collected and analyzed the clinical data of patients with pelvic fracture urethral injuries in ER of Beijing Jishuitan Hospital from March 2018 to June 2022.Seventy-six male patients with PFUI were reviewed and 60 patients were included due to the integrity of data collected. The patients were divided into early endoscopic realignment (EER) group and suprapubic cystostomy (SC) group according to the acute management. There were 33 patients and 27 patients in EER group and SC group, respectively. The age of the patients were (42.2±13.8)years and (44.1±15.0) years in EER group and SC group, respectively. The causes of the injuries were car accident, falling and crush, the percentage of the patients were 60.6%(20 cases), 33.3%(11 cases), 6.1%(2 cases) and 55.6%(15 cases), 44.4%(12 cases), 0 in EER group and SC group, respectively. The difference between two groups was statistically insignificant. The procedure of EER began with a cystostomy guided by B ultrasound, then an antegrade cystoscopy was performed through the cystostomy while negociating the bladder neck to the proximal side of injured urethra. A ureteral stent was inserted into the broken urethra and retrieved by a forceps through retrograde urethroscopy with another flexible cystoscope. We inserted a guidewire into the ureteral stent before removing it and placed a 16F urethral catheter along the guidewire. We analyzed the difference between two groups including the incidence, the length and the management of urethral stricture and the complexity of urethroplasty if needed. The simple urethroplasty was defined as performing anastomosis after dissection of the bulbar urethral and removing the scar tissue, while the procedure was defined as complex urethroplasty if ancillary procedures, such as separating the corporal bodies and partial pubectomy, was needed.Results:The EER group and SC group had 33 patients and 27 patients, respectively. The mean operation time of EER was (24.5±7.0)minutes and there was no intra-operative complications. Postoperatively, 4 cases of bleeding and 2 cases of UTI were found, which were successfully treated by conservative managements. Twenty-eight out of 33 patients(84.8%) in EER group developed urethral stricture and the mean length of it was (3.10±1.20)cm. However, all patients in SC group developed urethral stricture (100.0%) with the mean stricture length of (3.83±1.18)cm. The difference between two groups in term of the length of stricture was statistically significant ( P=0.026). 24 patients(85.7%) in EER group were treated by urethroplsty, 2 patients(7.1%) with endoscopic urethrotomy and 2 patients (7.1%) with dilation. All were treated with urethroplasty but 2 patients with endoscopic in SC group. In EER group, 8 strictures (33.3%)finished with simple urethroplasty and 16 strictures (66.7%) with complex urethroplasty.While in SC group, 6 strictures(24.0%) completed with simple urethroplasty and 19 strictures (76.0%)with complex urethroplasty. The complexity of urethroplasty performed in EER group was not statistically significant when compared with it in SC group( P=0.538). Conclusions:The procedure of EER with flexible cystoscope is reliable and safe. Most patients with formed urethral stricture after PFUI would be treated with urethroplasty. EER can reduce the urethral stricture formation and may decrease the need of the ancillary procedures during the urethroplasties if needed.
		                        		
		                        		
		                        		
		                        	
9.Transplantation of bilateral superficial inferior epigastric artery perforator flap for breast reconstruction in a patient with unilateral breast cancer.
Da Jiang SONG ; Zan LI ; Xiao ZHOU ; Yi Xin ZHANG ; Bo ZHOU ; Chun Liu LYU ; Yuan Yuan TANG ; Liang YI ; Zhenhua LUO
Chinese Journal of Burns 2022;38(10):964-967
		                        		
		                        			
		                        			On May 14, 2020, a 37 year old female patient with unilateral breast cancer was admitted to Hunan Cancer Hospital. She underwent modified radical mastectomy for right breast cancer and free transplantation of bilateral superficial inferior epigastric artery perforator flap (weighed 305 g) for breast reconstruction. During the operation, the right inferior epigastric vascular pedicle was anastomosed with the proximal end of the right internal mammary vessel, and the left inferior epigastric vascular pedicle was anastomosed with the distal end of the right internal mammary vessel; the blood flow of the flap was good; the wound in the donor site of the abdominal flap was closed directly. The operation lasted for 9 hours. In the first 48 hours post operation, the flap showed mild elevation in perfusion over drainage, but no obvious edema or blister was observed, flap temperature was consistent with the surrounding skin, and the drainage volume out of drainage tube was only 40 mL. The blood supply of the flap was completely restored to normal 3 days post operation, the flap survived well, the donor site incision had no obvious tension, and the healing was smooth. After 2 months of follow-up, the donor site incision of abdomen healed completely, only linear scar was left, and the reconstructed breast had a natural appearance; the patient planned to perform further nipple reconstruction and contralateral breast mastopexy. This case suggests that autologous breast reconstruction can be performed using bilateral superficial inferior epigastric artery perforator flaps under certain circumstances to minimize donor site injury to the greatest extent.
		                        		
		                        		
		                        		
		                        			Female
		                        			;
		                        		
		                        			Humans
		                        			;
		                        		
		                        			Adult
		                        			;
		                        		
		                        			Epigastric Arteries/surgery*
		                        			;
		                        		
		                        			Perforator Flap/blood supply*
		                        			;
		                        		
		                        			Breast Neoplasms/surgery*
		                        			;
		                        		
		                        			Mastectomy
		                        			;
		                        		
		                        			Unilateral Breast Neoplasms/surgery*
		                        			;
		                        		
		                        			Mammaplasty
		                        			
		                        		
		                        	
10.Childhood onset spinocerebellar ataxia type 2: a family report and literature review
Jing LIU ; Daoqi MEI ; Pengbo GUO ; Mengjun XIAO ; Zhenhua XIE ; Xian LI ; Qiang ZHANG ; Dongxiao LI
Chinese Journal of Neurology 2022;55(5):490-496
		                        		
		                        			
		                        			Objective:To investigate the clinical characteristics, genetic characteristics and diagnosis of spinocerebellar ataxia type 2 (SCA2) patients with childhood onset.Methods:The clinical data of a SCA2 pedigree who diagnosed at Neurogenetic Metabolic Disease Clinic of Children′s Hospital Affiliated to Zhengzhou University in July 2019 were collected, and the reported cases of childhood-onset SCA2 were reviewed. The CAG repeat of ATXN2 gene was detected by polymerase chain reaction, capillary gel electrophoresis and Sanger sequencing techniques.Results:A total of 9 people in 4 generations of the family were affected, showing an autosomal dominant inheritance. The proband was a 3 years and 4 months old boy, who showed abnormal symptoms at 9 months which manifested as developmental retardation. At 1 year old, he developed progressive regression which represented neither to be amused, recognize others, stand and walk alone, nor had language development. Meanwhile, he had difficulty swallowing, long-term constipation, and a history of convulsions. His sister and mother were not yet sick. His grandmother could not walk, had slurred speech accompanied by nystagmus, and magnetic resonance imaging showed cerebellar atrophy. His granduncles and grandaunts had unstable walking and dysarthria. His great-grandfather required wheelchair to walk. This pedigree showed an autosomal dominant inheritance. One of the ATXN2 gene alleles of the proband, his sister, mother and grandmother all showed abnormal amplification with 99, 55, 44, and 43 times respectively and no inserting CAA sequence. A total of 14 literatures reported 20 cases of childhood-onset SCA2 patients who were genetically diagnosed. The majorities had onset in infancy, and few can develop into school age. The main clinical manifestations were developmental delay, dystonia or insufficiency, myoclonus or infantile spasms, motor retardation, abnormal eye movement, retinitis pigmentosa and dysphagia, while the classic cerebellar syndrome was only partially present. Abnormal rhythm was found on electroencephalogram, cerebellar atrophy on magnetic resonance imaging or CT of the head.Conclusions:This case is the youngest genetically-confirmed SCA2 patient reported in China. Reported patients usually have onset in infancy with excessive repeat sequence expansion. Their clinical characteristics are different from the classic patients and could only be diagnosed by dynamic mutation detection.
		                        		
		                        		
		                        		
		                        	
            
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