Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036690 (sepsis)
 59,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), a visceral myopathy causing intestinal obstruction in the newborn, is a generally fatal condition, with death being secondary either to sepsis or to malnutrition if long-term intravenous feeding is not provided. A patient with MMIHS is described who has been raised by total parenteral nutrition (TPN) for seven years since her birth. Severe hepatic dysfunction was encountered in early infancy, which gradually cleared after the initiation of milk feeding by mouth, although the milk could not be absorbed because of the high-output jejunostomy. The patient also experienced a bone disease similar to scurvy but caused by copper deficiency at the age of 9 months. The central venous catheter now in situ is the 25th one for the patient. When these catheters were evaluated, the Broviac proved more efficacious than the traditional Silastic for use in long-term TPN. The patient does not yet have normal bowel function and still requires TPN.
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PMID:Successful nutrition management of megacystis-microcolon-intestinal hypoperistalsis syndrome--a case report. 252 Mar 38

The megacystis-microcolon-intestinal hypoperistalsis syndrome is a congenital disorder characterized by urinary bladder distension and hypoperistalsis throughout the entire gastrointestinal tract. We present a new case with the typical clinical, radiological, and pathological findings of the syndrome. The diagnosis should be suspected in a patient who present clinically with intestinal obstruction and urinary retention, and confirmed with imaging studies, including abdominal plain films, urinary tract ultrasonography, and contrast studies of the colon and the bladder. The prognosis is generally very poor. Our patient died secondary to sepsis on day 5 of life.
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PMID:Megacystis-microcolon-intestinal hypoperistalsis syndrome. 858 28

Megacystis-microcolon-intestinal hypoperistalsis is a rare congenital disorder characterized by urinary bladder distention and hypoperistalsis throughout the entire gastrointestinal tract. We present a new case with the typical clinical and radiological findings of the syndrome. This diagnosis should be suspected in patients who present with intestinal obstruction and urine retention and should be confirmed with imaging techniques, including abdominal plain films and urinary ultrasonography. Histological findings are non-specific; we found thinning of the intestinal muscle layer and connective tissue proliferation. The prognosis is generally very poor. Our patient died from sepsis at the age of 25 days.
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PMID:[Megabladder-microcolon-intestinal hypoperistalsis syndrome]. 1108 70

This report concerns two patients (female, 9 and 6 years) who were diagnosed with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Although they exceeded the usual life expectancy of patients diagnosed with MMIHS because of total parenteral nutrition (TPN), they demonstrated progressive neurological deficits and showed histopathological features in the brain. Both patients were diagnosed with MMIHS in the neonatal period and were fed by TPN. The first patient developed visual and gait disturbances at the age of 7 years. Two months later, she developed dysarthria and muscular weakness, and could not maintain her posture. The level of serum selenium was extremely low. The second patient developed flexion and spasticity of the extremities followed by decorticate posture at the age of 3 years. Both patients died of sepsis. The brain weights of the two cases were 880 g and 715 g. In both cases, severe neuronal loss and gliosis were present in the medial convolutions of the occipital lobe, including the visual cortex. The postcentral gyrus and temporal transverse gyrus were also involved. In addition, extensive loss of Purkinje cells and granular neurons, and gliosis were observed in the cerebellum. We measured the selenium content of the brains and livers using the graphite furnace atomic absorption spectrometry method. Selenium was not detected in either brain, although the livers of both cases contained a low level of selenium. On immunohistochemical examination of the anti-oxidative enzymes, histiocyte-macrophage lineage cells in MMIHS cases, including microglia and Kupffer cells, showed only a weak reaction for glutathione peroxidase, of which selenium is an essential component. However, the cells in the control cases were strongly positive. In cases of MMIHS and methylmercury intoxication, the brain features similar lesions, in both their topographical and histopathological aspects. We considered that the brain lesions of the MMIHS patients mainly resulted from oxidative damage of the brain related to the low levels of glutathione peroxidase and other selenoproteins due to selenium deficiency.
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PMID:Encephalopathy in megacystis-microcolon-intestinal hypoperistalsis syndrome patients on long-term total parenteral nutrition possibly due to selenium deficiency. 1284 51

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease with high mortality rate. The authors report a case of a female term infant with massive abdominal distension at birth. Abdominal ultrasonography revealed a huge cystic mass resolved after urinary catheterization. Exploratory laparotomy was performed and intraoperative findings were an enlarged urinary bladder, microcolon, short bowel and malrotation of the small intestine. Ladd's procedure, ileostomy and vesicostomy were performed. Pathological findings of rectal biopsy revealed normal ganglion cells. Although prokinetic drugs were given for promoting bowel motility, enteral feedings were not tolerated. She died from septicemia at the age of 50 days.
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PMID:Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): a case report in Thailand. 1582 18

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a severe congenital disease with autosomal recessive inheritance, characterized by vesical distension and intestinal hypoperistalsis what causes intestinal obstruction in newborn, with other abnormalities associated. It presents a low incidence, about a hundred cases are reported in the bibliography. Life expectancy doesn't reach a year because of the sepsis failure generally. In our study the survival is higher than the majority of the cases reported, with good cuality of life and acceptable ponderal development. Home parenteral nutrition with the following and multidisciplinary collaboration in a strict way, establish the success' key in this pathology.
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PMID:[The megacystis-microcolon-intestinal hypoperistalsis syndrome: apropos of a case with prolonged survival]. 1916 Sep 3

Arare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and had a severely distended abdomen. An abdominal X-ray revealed multiple air fluid levels seen in a distended small intestine. During exploratory laparotomy the ileum was massively dilated with distal segment perforation. Ileal perforation repair was performed. A totally collapsed microcolon was identified. Biopsies were taken from the high rectum, sigmoid and hepatic flexure. Appendectomy and ileostomy were performed. All biopsies, as well as the appendix, showed absence of ganglion cells. Despite this procedure the patient progressively deteriorated and later died due to sepsis. Ileal perforation in infants is a rare, but potentially fatal initial presentation of TCA. Early detection is essential to prevent life-threatening complications.
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PMID:Isolated Ileal Perforation in Infancy: A Lethal Initial Presentation of Hirschsprung's Disease. 2870 18

The combination of pediatric multivisceral and kidney transplantation leads to additional recipient risks due to the number of anastomoses and to the small sizes of donor structures. The inclusion of donor kidneys, ureters, and a bladder patch en bloc with multivisceral organs decreases the number and complexity of anastomoses and has not yet been reported. Four patients were transplanted in this fashion; three underwent multivisceral-kidney and one underwent liver-kidney transplantation. The first patient was a 3-year-old male with polycystic kidney disease and congenital hepatic fibrosis. The second was a 7-year-old female with complications from necrotizing enterocolitis. The third was a 12-month-old male with megacystis microcolon intestinal hypoperistalsis syndrome and secondary hydronephrosis, and the fourth was a 3-year-old male with multiple intestinal resections secondary to incarcerated hernia. The third patient developed a right ureteral stenosis with an intact bladder patch. The fourth child expired from maintained abdominal sepsis. The first 3 patients maintained normal graft function. There were no cases of thrombosis, arterial stenosis, or urinary leakages. These reported cases demonstrate that small pediatric en bloc transplantation of the multivisceral organs and dual kidneys with a bladder patch anastomosis is a feasible and less complex alternative to the standard procedure.
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PMID:Use of pediatric donor en bloc kidneys along with bladder segment in pediatric liver-kidney and multivisceral-kidney transplantation. 3160 38