Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature / 医学前沿

Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.

Causes of unplanned reoperation in pediatric patients undergoing elective digestive tract surgery and the prognosis / 中华普通外科杂志

Objective:To analyze the causes of unplanned reoperation in pediatric patients after elective digestive tract surgery and the prognosis.Methods:Medical records were reviewed from pediatric patients undergoing unplanned reoperation after elective digestive tract surgery at our department from Jan 2012 to Dec 2019. Primary diagnoses, procedures and levels of index surgeries, causes and procedures of unplanned reoperations, and patients' prognosis were analyzed.Results:There were 39 cases, and the primary diagnoses included biliary disease, anal and colorectal disease, and intestinal disease. There were 4 (10%) cases of level Ⅱ surgeries,and 35 (90%) cases of level Ⅲ&Ⅳ surgeries. The index surgical procedures included 19 (49%) biliary-intestinal procedures, 11 (28%) simple intestinal procedures, and 9 (23%) anal and colorectal procedures. The direct causes of unplanned reoperation included 10 (26%) anastomotic leakages, 8 (20%) adhesive intestinal obstructions, 5 (13%) postoperative intussusceptions, 5 (13%) incisional complications (infection, dehiscence and incisional hernia), 3 (8%) postoperative hemorrhages and 8 (20%) miscellaneous (iatrogenic injury and surgical misjudgment). Patients' prognosis included 24 (62%) full recoveries, 9 (23%) further operations, and 5 (13%) deaths, and 1 (3%) short bowel syndrome.Conclusions:Most pediatric unplanned reoperations after elective digestive tract surgery occur in complex surgical procedures. The most common causes of unplanned reoperation are anastomotic leakage, adhesive intestinal obstruction. Unplanned reoperations are often prone to adverse effects on prognosis.

Reoperation for biliary-enteric strictures after hepaticojejunostomy in children with congenital biliary dilatation / 中华普通外科杂志

Objective:To evaluate clinical characteristics and treatment of postoperative anastomotic stricture in pediatric congenital biliary dilatation patients.Methods:The clinical data of 24 children with postoperative anastomotic stricture from Apr 2012 to Oct 2019 in Beijing Children's Hospital was retrospectively analyzed.Results:There were 6 males and 18 females. Patients were divided into bile- leak group (BL, n=6) and non bile-leak group (NBL, n=18) based on whether there was anastomotic leakage after primary surgery. The main symptoms in BL group was persistent obstructive jaundice, and recurrent cholangitis in NBL group. Postoperative symptoms were first shown in an average of 7.0 months in BL group, compared to 59.0 months in NBL group, P<0.05. In BL group, 4 underwent redoing hepaticojejunostomy, 2 underwent anastomosis plasty. In NBL group, 3 underwent redoing hepaticojejunostomy, 15 did anastomosis plasty with multiple biliary stones found necessitating extraction. After reoperation, one patient had bile leakage, 2 patients had recurrent cholangitis within one-month, 21 patients had uneventful recovery. Five were found to have biliary stones in long-term follow-up. Conclusions:Biliary-enteric anastomotic leakage can cause stricture in postoperative patients of congenital biliary dilatation ,reoperation is necessary in symptomatic patients.

Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study / 医学前沿

Thoracic aortic dissection (TAD) without familial clustering or syndromic features is known as sporadic TAD (STAD). So far, the genetic basis of STAD remains unknown. Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population (N = 637). After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10

Redo surgery in Hirschsprung's disease for postoperative distension and constipation / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To summarize the reason and treatment of redo surgery in Hirschsprung disease for postoperative distension and constipation.</p><p><b>METHODS</b>From January to December 2014, 35 patients with constipation and distention after pull-through done elsewhere were referred to our institution. The reasons procedures and outcomes of redo surgery were a retrospectively analyzed.</p><p><b>RESULTS</b>The indication of reoperation in 21 cases was pathological problems, including residual aganglionosis, retained transition zone bowel, and in 13 cases was anatomical problems, including retained dilated segment, obstructive Soave cuff. One case had both pathological and anatomical problems. Among them, 5 cases belonged to total colonic aganglionosis. All the cases received conservative treatment for about 6 months before reoperation. Five cases had enterostomy before redo pull through surgery. Thirty cases underwent Soave surgery with or without laparoscopy or laparotomy. Twenty-six cases underwent transabdominal Soave surgery, 3 cases transanal Soave surgery, 1 case transanal Soave surgery with laparoscopy. Other surgery included Ikeda surgery, excision of diaphragm or scar, and anoplasty. Postoperative complications were found in 3 patients. One had rectovesical fistula and was cured after operation. Two cases had anastomotic leakage and then underwent diverting ileostomy. Thirty-three cases had a mean follow-up of 59 months. During the follow-up, 32 cases had no distension and constipation. Two cases presented occasional dirty pants, 2 cases frequent soiling, 1 case daily soiling.</p><p><b>CONCLUSIONS</b>Reasons of distension and constipation in Hirschsprung's disease after surgery are pathological and anatomical problems. Operation procedure is chosen based on reasons. Transabdominal Soave surgery is safe and effective.</p>