Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE),a rare mitochondrial disorder caused by TYMP gene mutations,is characterized by severe gastrointestinal dysmotility,peripheral neuropathy,and leukodystrophy.This article summarizes the clinical data and intestinal ultrasound findings of a MNGIE case,aiming to provide insights for clinical diagnosis and treatment.
Humans ; Mitochondrial Encephalomyopathies/diagnostic imaging* ; Ultrasonography ; Intestines/diagnostic imaging* ; Male ; Female ; Intestinal Pseudo-Obstruction/diagnostic imaging* ; Ophthalmoplegia/congenital* ; Muscular Dystrophy, Oculopharyngeal

Humans ; Intestinal Obstruction/complications* ; Ileus/etiology* ; Abdominal Injuries/complications*

Bromadiolone, commonly known as super warfarin, is a long-acting coumarin dicoumarin rodenticide. The mechanism of bromadiolone is mainly to inhibit vitamin K1 epoxide reductase and affect the synthesis of coagulation factors Ⅱ, Ⅶ, Ⅸ and Ⅹ, which causes blood coagulation dysfunction and systemic multiple organ hemorrhage. Here, we report of a case of bromadiolone poisoning patient who had digestive tract, abdominal hemorrhage, as well as secondary paralytic ileus. After blood product transfusion and vitamin K1 supplementation, the patient was discharged after the physical condition was improved. It's suggestied that clinicians should pay attention to rare complications to prevent missed diagnosis when treating other bromadiolone poisoning.
4-Hydroxycoumarins ; Blood Coagulation Factors ; Dicumarol ; Hemorrhage ; Humans ; Intestinal Pseudo-Obstruction/chemically induced* ; Oxidoreductases ; Rodenticides ; Vitamin K 1 ; Warfarin

OBJECTIVE: To observe the effect of electroacupuncture (EA) on postoperative ileus after laparotomy for gastrointestinal cancer. METHODS: A total of 90 patients with postoperative ileus after laparotomy for gastrointestinal cancer were randomized into an EA group and a conventional treatment group, 45 cases in each one. In the conventional treatment group, the postoperative fast track surgical regimen was accepted. In the EA group, on the base of the treatment as the conventional treatment group, acupuncture was applied to Zusanli (ST 36), Shangjuxu (ST 37), Yinlingquan (SP 9) and Taichong (LR 3) and electric stimulation was attached on Zusanli (ST 36) and Yinlingquan (SP 9), with continuous wave, 2 Hz in frequency and 3-5 mA in intensity. Acupuncture was provided once daily till the onset of postoperative exhaust and defecation. The first postoperative exhaust time, the first postoperative defecation time, the postoperative hospital stay and the wound pain under standing on the next morning after entering group were compared in the patients between the two groups. The impact of the EA expectation was analyzed on the first postoperative exhaust time, the first postoperative defecation time and the postoperative hospital stay separately. RESULTS: The first postoperative exhaust time and the first postoperative defecation time in the EA group were earlier than the conventional treatment group (P<0.05), the postoperative hospital stay was shorter than the conventional treatment group (P<0.05), and the rate of wound pain in the postoperative standing was lower than the conventional treatment group (P<0.05). EA expectation had no obvious correlation with the clinical therapeutic effect (P>0.05). CONCLUSION EA can relieve postoperative ileus symptoms, alleviate pain and shorten hospital stay in the patients after laparotomy for gastrointestinal cancer.
Acupuncture Points ; Electroacupuncture ; Gastrointestinal Neoplasms ; Humans ; Ileus/therapy* ; Laparotomy/adverse effects*

Intestinal failure (IF) is the critical reduction of the gut mass or its function below the minimum needed to absorb nutrients and fluids required for adequate growth in children. Severe IF requires parenteral nutrition (PN). Pediatric IF is most commonly due to congenital or neonatal intestinal diseases or malformations divided into 3 groups: 1) reduced intestinal length and consequently reduced absorptive surface, such as in short bowel syndrome (SBS) or extensive aganglionosis; 2) abnormal development of the intestinal mucosa such as congenital diseases of enterocyte development; 3) extensive motility dysfunction such as chronic intestinal pseudo-obstruction syndromes. The leading cause of IF in childhood is the SBS. In clinical practice the degree of IF may be indirectly measured by the level of PN required for normal or catch up growth. Other indicators such as serum citrulline have not proven to be highly reliable prognostic factors in children. The last decades have allowed the development of highly sophisticated nutrient solutions consisting of optimal combinations of macronutrients and micronutrients as well as guidelines, promoting PN as a safe and efficient feeding technique. However, IF that requires long-term PN may be associated with various complications including infections, growth failure, metabolic disorders, and bone disease. IF Associated Liver Disease may be a limiting factor. However, changes in the global management of IF pediatric patients, especially since the setup of intestinal rehabilitation centres did change the prognosis thus limiting “nutritional failure” which is considered as a major indication for intestinal transplantation (ITx) or combined liver-ITx.
Bone Diseases ; Child ; Citrulline ; Enterocytes ; Humans ; Intestinal Diseases ; Intestinal Mucosa ; Intestinal Pseudo-Obstruction ; Liver Diseases ; Micronutrients ; Parenteral Nutrition ; Parenteral Nutrition, Home ; Prognosis ; Rehabilitation ; Short Bowel Syndrome

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.
Cystic Fibrosis ; Deafness ; Duodenum ; Female ; Fistula ; Frameshift Mutation ; Hirschsprung Disease ; Humans ; Ileus ; Intestinal Pseudo-Obstruction ; Jejunum ; Meconium ; Necrosis ; Parents ; Waardenburg Syndrome

PURPOSE: Limited means exist to assess gastrointestinal activity in pediatric patients postoperatively. Recently, myoelectric gastrointestinal activity recorded by cutaneous patches has been shown in adult patients to be predictive of clinical return of gastrointestinal function postoperatively. The aim of this case series is to demonstrate the feasibility of this system in pediatric patients and to correlate myoelectric signals with return of bowel function clinically. METHODS: Pediatric patients undergoing abdominal surgery were recruited to have wireless patches placed on the abdomen within two hours postoperatively. Myoelectric data were transmitted wirelessly to a mobile device with a user-interface and forwarded to a cloud server where processing algorithms identified episodes of motor activity, quantified their parameters and nominally assigned them to specific gastrointestinal organs based on their frequencies. RESULTS: Three patients (ages 5 months, 4 year, 16 year) were recruited for this study. Multiple patches were placed on the older subjects, while the youngest had a single patch due to space limitations. Rhythmic signals of the stomach, small intestine, and colon could be identified in all three subjects. Patients showed gradual increase in myoelectric intestinal and colonic activity leading up to the first recorded bowel movement. CONCLUSION: Measuring myoelectric intestinal activity continuously using a wireless patch system is feasible in a wide age range of pediatric patients. The increase in activity over time correlated well with the patients' return of bowel function. More studies are planned to determine if this technology can predict return of bowel function or differentiate between physiologic ileus and pathologic conditions.
Abdomen ; Adult ; Colon ; Electrophysiological Phenomena ; Gastrointestinal Tract ; Humans ; Ileus ; Intestinal Diseases ; Intestine, Small ; Motor Activity ; Myoelectric Complex, Migrating ; Stomach

PURPOSE: To assess the feasibility of transanal total mesorectal excision in difficult cases including obese patients or patients with bulky tumors or threatened mesorectal fascias. METHODS: We performed laparoscopy-assisted transanal total mesorectal excision in patients with biopsy-proven rectal adenocarcinoma located 3–12 cm from the anal verge as part of a prospective, single arm, pilot trial. The primary endpoint was resection quality and circumferential resection margin involvement. Secondary endpoints included the number of harvested lymph nodes and 30-day postoperative complications. RESULTS: A total of 12 patients (9 men and 3 women) were enrolled: one obese patient, 7 with large tumors and 8 with threatened mesorectal fascias (4 patients had multiple indications). Tumors were located a median of 5.5 cm from the anal verge, and all patients received preoperative chemoradiotherapy. Median operating time was 191 minutes, and there were no intraoperative complications. One patient needed conversion to open surgery for ureterocystostomy after en bloc resection. Complete or near-complete excision and negative circumferential resection margins were achieved in all cases. The median number of harvested lymph nodes was 15.5. There was no postoperative mortality and 3 cases of postoperative morbidity (1 postoperative ileus, 1 wound problem near the stoma site, and 1 anastomotic dehiscence). CONCLUSION: This pilot study showed that transanal total mesorectal excision is also feasible in difficult laparoscopic cases such as in obese patients or those with bulky tumors or tumors threatening the mesorectal fascia. Additional larger studies are needed.
Adenocarcinoma ; Arm ; Chemoradiotherapy ; Conversion to Open Surgery ; Fascia ; Humans ; Ileus ; Intraoperative Complications ; Laparoscopy ; Lymph Nodes ; Male ; Mortality ; Pilot Projects ; Postoperative Complications ; Prospective Studies ; Rectal Neoplasms ; Transanal Endoscopic Surgery ; Wounds and Injuries

BACKGROUND/AIMS: Previous studies from Korea have described chronic intestinal pseudo-obstruction (CIPO) patients with transition zone (TZ) in the colon. In this study, we evaluated the pathological characteristics and their association with long-term outcomes in Korean colonic pseudo-obstruction (CPO) patients with TZ. METHODS: We enrolled 39 CPO patients who were refractory to medical treatment and underwent colectomy between November 1989 and April 2016 (median age at symptoms onset: 45 [interquartile range, 29–57] years, males 46.2%). The TZ was defined as a colonic segment connecting a proximally dilated and distally non-dilated segment. Detailed pathologic analysis was performed. RESULTS: Among the 39 patients, 37 (94.9%) presented with TZ and 2 (5.1%) showed no definitive TZ. Median ganglion cell density in the TZ adjusted for the colonic circumference was significantly decreased compared to that in proximal dilated and distal non-dilated segments in TZ (+) patients (9.2 vs 254.3 and 150.5, P < 0.001). Among the TZ (+) patients, 6 showed additional pathologic findings including eosinophilic ganglionitis (n = 2), ulcers with combined cytomegalovirus infection (n = 2), diffuse ischemic changes (n = 1), and heterotropic myenteric plexus (n = 1). During follow-up (median, 61 months), 32 (82.1%) TZ (+) patients recovered without symptom recurrence after surgery. The presence of pathological features other than hypoganglionosis was an independent predictor of symptom recurrence after surgery (P = 0.046). CONCLUSIONS: Hypoganglionosis can be identified in the TZ of most Korean CPO patients. Detection of other pathological features in addition to TZ-associated hypoganglionosis was associated with poor post-operative outcomes.
Cell Count ; Colectomy ; Colon ; Colonic Pseudo-Obstruction ; Cytomegalovirus Infections ; Eosinophils ; Follow-Up Studies ; Ganglion Cysts ; Humans ; Intestinal Pseudo-Obstruction ; Korea ; Male ; Myenteric Plexus ; Pathology ; Recurrence ; Ulcer

PURPOSE: Improvements in surgical techniques and a better understanding of the unique anesthetic requirements in neonates undergoing laparoscopy have suggested that laparoscopic surgery may be effective in newborns. This study therefore evaluated the safety and feasibility of laparoscopic excision of the cyst (LEC) in neonates. METHODS: This retrospective study included 43 neonates who underwent excision of choledochal cysts between November, 2001, and January, 2018, including 21 who underwent open excision and 22 who underwent LEC. Their perioperative and surgical outcomes were reviewed. The patients were followed up for a median 37 months (range, 3–141 months). RESULTS: Baseline characteristics did not differ significantly in the open and LEC groups. Mean intraoperative peak partial pressure of arterial CO2 (PaCO2) (45.5 mmHg vs. 48.0 mmHg) and total operation time (208.3 ± 71.0 minutes vs. 235.0 ± 47.2 minutes) were similar in both groups. Parents of the patients in the LEC group provided a more positive evaluation of scar scale and greater satisfaction with wound. No patient in either group experienced any critical complications. Three patients in the open excision group required readmission for cholangitis and 2 patients had ileus. No patient in the laparoscopic excision group experienced any postoperative complications during follow-up. CONCLUSION: Despite difficulties performing laparoscopic surgery in neonates, LEC was safe and feasible when intraperitoneal peak pressure was maintained under 10 mmHg and PaCO₂ was closely monitored by a pediatric anesthesiologist. Compared with open excision, LEC provided improved cosmetic outcomes without severe complications. Prospective randomized studies with large numbers of patients are warranted.
Cholangitis ; Choledochal Cyst ; Cicatrix ; Follow-Up Studies ; Humans ; Ileus ; Infant ; Infant, Newborn ; Laparoscopy ; Minimally Invasive Surgical Procedures ; Parents ; Partial Pressure ; Postoperative Complications ; Prospective Studies ; Retrospective Studies ; Wounds and Injuries