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)

Between July 1990 and December 1995, 111 new consecutive pediatric patients with acute myelogenous leukemia (AML) have been treated in our institution. Eleven of them (9.9%) had Down's syndrome (DS), 6 boys and 5 girls. The median age was 22.5 (range 10-40) months. FAB subtypes were the following: M7: 6, M4: 3, and M0: 2. Five of them had previously had myelodysplasia and in 3, all FAB M7, myelofibrosis was detected. This population was treated with two consecutive protocols. Nine patients were included in the AML-HPG-90 protocol and 2 patients in the AML-HPG-95 study, respectively. However, all DS patients in this series received the same treatment. Eight patients achieved complete remission: two patients received two cycles of intensification with high dose (HD) ara-C, and 1 patient, only one cycle; the other 5 were prevented from receiving such therapy because of unacceptable toxicity or death. At 45 months, event-free survival and overall survival estimates were 0.30, S.E. 0.16. Mortality was remarkably high. All deaths (7) were associated with sepsis (5) or pulmonary infection (2). Three deaths occurred before achieving complete remission, 3 patients died during the consolidation phase and 1 died whilst off treatment. No one presented leukemic relapse. We conclude that this AML-BFM treatment strategy is highly toxic to children with DS and AML in our setting. Efforts will be made to improve clinical support and to administer less intensive therapy to this particular pediatric AML subgroup, which, in fact, has a better prognosis than the same non-trisomic population.
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PMID:Acute myelogenous leukemia in Down's syndrome: report of a single pediatric institution using a BFM treatment strategy. 965 34

The pathophysiology of organ system failure in sepsis, in particular the effects of septic shock on the central nervous system, are still incompletely understood. Lipopolysaccharide (LPS) from Gram-negative bacteria affects the permeability of the blood-brain barrier and causes the activation of brain microglia. A growing body of research supports involvement of activated brain microglia in brain pathologies caused by infectious diseases, trauma, tumors, ischemia, Alzheimer's disease, Parkinson's disease, Down's syndrome, multiple sclerosis and AIDS. Those seminal studies that have contributed to the characterization of the in vivo and in vitro effects of LPS on microglia function, mediator generation and receptor expression are presented within a historical perspective. In particular, all those in vitro studies on O2-, H2O2 and NO. generation by either unprimed or primed microglia have been extensively reviewed. The apparent controversial effect of LPS on microglia O2- is discussed. Because treatment modalities for septic shock have not significantly affected the current high mortality, alternative strategies with antioxidants are currently being investigated. Reduction of microglia O2- generation is proposed as a possible complementary strategy to antioxidative therapy for septic shock and CNS pathologies that involve activated microglia.
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PMID:Therapeutic implications of microglia activation by lipopolysaccharide and reactive oxygen species generation in septic shock and central nervous system pathologies: a review. 981

A nine day infant with Down syndrome and congenital heart disease is presented in whom the course of neonatal sepsis was complicated by the presence of difficult to diagnose pathological masses in the right ventricle. The etiology of pathological masses was difficult to establish in survival investigations. Histopathological examinations revealed the presence of thrombus in the right heart and foci of granulation on a muscle of right ventricle outflow, probably after a septic embolus.
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PMID:[Thrombus of the right ventricle simulating a cardiac tumor--case report]. 1035 20

Enterocolitis is still the main source of mortality and morbidity in Hirschsprung's disease (HD). Between 1976 and 1993, 79 (26%) of 302 Hirschsprung patients proved to have Hirschsprung-associated enterocolitis (HAEC). Mortality was 7.6 percent (6 patients). HAEC patients, those who died of HAEC and those without HAEC were analyzed for differences in 34 parameters. The length of the aganglionic segment was found not to be a risk factor for HAEC, but early diagnosis and prompt treatment were found to decrease the occurrence of preoperative HAEC. Although we defined HAEC as foul-smelling, explosive diarrhea, some other symptoms and signs, such as abdominal distention on physical examination, vomiting, dehydration, and a history of nonspecific diarrhea were encountered with significant frequency. None of the patients had Down's syndrome. Sepsis was detected in all of the patients who died of HAEC. The severity of HAEC did not increase with the number of attacks of HAEC, and mortality was greater in the first three attacks. Differences in results between some series seemed to be related to differing definitions of HAEC.
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PMID:Clinical risk factors of Hirschsprung-associated enterocolitis. I: Preoperative enterocolitis. 1086 98

We report the first case of a girl born to a diabetic mother who was found to have Down syndrome and prune-belly anomalies (bilateral gross hydronephrosis, megaureter, and megacystis with abdominal muscle deficiency). The girl also had an atrioventricular septal defect. Diagnoses were confirmed with a cytogenetic study and micturating cystourethrography. She died at 29 days of age with a sudden collapse, most likely due to sepsis.
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PMID:Prune-belly anomalies in a girl with Down syndrome. 1368 Mar 26

The authors report their experience with eight patients (11 hips) with Down syndrome who sustained a slipped capital femoral epiphysis (SCFE). Six patients were diagnosed with hypothyroidism. All patients were greater than the 85th percentile for body mass index. Initial treatment was by in situ pinning in all hips. Six of the 11 slips progressed, 2 had collapse consistent with avascular necrosis, and 1 developed collapse secondary to joint sepsis and osteomyelitis. Additional surgery was necessary on seven hips. Four of eight hips followed until maturity had substantial femoral head deformity. Three of these patients had a noticeable limp and pain. Treatment of SCFE in patients with Down syndrome is difficult and the prognosis is guarded. These patients should be screened for hypothyroidism.
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PMID:Slipped capital femoral epiphysis in patients with Down syndrome. 1510 22

We present a case of an infant with Down syndrome (trisomy 21) who was affected by alveolar capillary dysplasia and other complications including endocardial cushion defect, hypothyroidism, and intrauterine growth restriction. The patient was the product of a third pregnancy to a 33-year-old woman with no significant risk factors. The child lived for 3 months, during which he developed intractable dyspnea, hypoxemia, and cardiac dysfunction and he eventually died from septicemia and multiorgan failure. In addition to the facial phenotypic features and cardiac anomalies, the autopsy revealed the characteristic microscopic pulmonary findings of alveolar capillary dysplasia with misalignment of pulmonary veins. This appears to be the first reported case of this anomaly associated with trisomy 21. In addition to the many reasons for pulmonary hypertension that occur in children with trisomy 21, alveolar capillary dysplasia may have to be included in the differential diagnosis although it appears to be a rare association.
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PMID:Alveolar capillary dysplasia in an infant with trisomy 21. 1694 70

Enterocolitis remains the most serious complication of Hirschsprung's disease (HD). The purpose of this study was to evaluate the risk factors in the development of enterocolitis and the long-term outcome in these patients. The hospital records of 259 consecutive patients with HD during 1975-2003 were examined. The data was analysed for age at presentation, associated anomalies, level of aganglionosis, clinical features, number of episodes of enterocolitis, type of pullthrough, necessity for post-pullthrough sphincterectomy. Follow up was carried out by personal interviews and interviews over the telephone with patients/parents. Enterocolitis was diagnosed on the basis of clinical features of diarrhoea, pyrexia, abdominal distention and vomiting. Of the 259 patients with HD, 74 patients (28.5%) were found to have enterocolitis. Out of 39 patients with Down's syndrome and HD, 19 (48%) had enterocolitis. Fifteen (20%) patients had other associated anomalies. Fifty-six patients (75.6%) were male and 18 (24.3%) were female. In 30 patients enterocolitis was the presenting feature in the neonatal period, 22 of which presented in the first 2 weeks of life. Fifty-six patients (75.6%) had rectosigmoid disease and 18 (24.3%) had long segment disease or total colonic aganglionosis. Eighteen (24.3%) had only preoperative enterocolitis and 31(41.8%) had only postoperative enterocolitis. Twenty-five (33.7%) had both pre- and post-operative enterocolitis. Twenty (27%) patients had more than 2 episodes of enterocolitis. Various pullthrough procedures were performed. Twenty-six patients (35.1%) required internal sphinctermyectomy to treat the enterocolitis. At the time of follow-up, 16 patients were lost to follow-up. Of the remaining 58 patients, 3 patients died, 2 due to enterocolitis and 1 due to sepsis. Six patients remained with a stoma. Twenty-two patients were continent and were stooling normally, but 14 of these were on laxatives for several years after pullthrough procedure. The mean age at achieving full continence was 4.95 years in the 22 patients with normal bowel function. Nineteen patients are still on laxatives and 8 patients are soiling. Eight patients continue to have multiple recurrent episodes of enterocolitis at follow-up. Down's syndrome is an important risk factor in the development of enterocolitis. The majority of patients with enterocolitis complicating HD continue to have disturbances of bowel function many years after surgery for HD.
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PMID:Long-term outcome of patients with enterocolitis complicating Hirschsprung's disease. 1646 33

An association between thromboembolic events and Down syndrome (DS) has been increasingly reported in the literature. It is not clear whether patients with DS have increased risk for thrombotic disorders or there is a coincidence. We present a case of giant right ventricular thrombus in a neonate with DS. Risk factors for thrombosis in the present case were neonatal sepsis and dehydration. There was no congenital heart anomaly. The patient was treated successfully using recombinant tissue plasminogen activator. Recombinant tissue plasminogen activator seems to be a safe and effective thrombolytic therapy in neonates.
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PMID:A giant thrombus in the right ventricle of a newborn with Down syndrome: successful treatment with rt-PA. 1667 32

Congenital pyloric atresia (CPA) is a very rare condition that was first described by Calder in 1749. Commonly, CPA occurs as an isolated lesion, which has an excellent prognosis, but it can also be seen in association with other malformations, which can have a negative impact on the final outcome. The medical records of all patients with the diagnosis of CPA treated at our hospital were retrospectively reviewed for: age at diagnosis, sex, presenting symptoms, history of polyhydramnios, diagnosis, associated anomalies, operative findings, treatment and outcome. Eleven cases with the diagnosis of CPA were treated at our hospital. There were five males and six females. Seven were products of full term normal vaginal delivery and the remaining four were prematures. Their birth weights ranged from 1.2 to 3.9 kg (mean 2.2 kg). Polyhydramnios was seen in seven (63.6%). Associated anomalies were seen in six (54.5%). These included epidermolysis bullosa (EB) in three, hereditary multiple intestinal atresias (HMIA) in two including a duplication cyst in one of them, esophageal atresia in one, Down's syndrome in one, congenital heart disease in one, cleft palate in one and aplasia cutis congenital (ACC) in one. Intraoperatively, five had pyloric diaphragms, in two of them there were double diaphragms, three had pyloric atresia with a gap between the two ends and two had pyloric atresia with no gap. One of them had duodenal perforation as well as ileal perforation. The patients with pyloric diaphragms had excision of diaphragms and Heineke-Mickulicz pyloroplasty. Four of the other five patients had gastro-duodenostomy. One of them also had duodeno-jejunostomy due to associated distal duodenal atresia and excision of duplication cyst. The patient with duodenal and ileal perforation and because of the marked distension of the duodenum had reduction duodenoplasty, gastroduodenostomy, and duodeno-jejunostomy. The area of ileal perforation was resected and end-to-end anastomosis was done after correction of the associated malrotation. One patient with associated esophageal atresia had gastrostomy and gastrojejunostomy. Post-operatively, all did well initially, but subsequently, six of them died giving an overall survival of 45.5%. Sepsis was the cause of death in all of them. CPA is very rare and when it occurs in isolation it has a good prognosis. The association of CPA with HMIA is universally fatal. CPA in association with EB has a high mortality but there are encouraging results with the use of steroids and phenytoin. Sepsis continues to be the main cause of death and an associated combined immunodeficiency should be excluded.
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PMID:Congenital pyloric atresia and associated anomalies. 1739 Jan 40


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