Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0243026 (sepsis)
 52,417 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 13-year-old boy who was known to have Fanconi's anemia for five years. For treatment of this condition he was given androgens and corticosteroids. Two months before his death, severe varicella developed complicated by pneumonia, jaundice, and prolonged fever; all of which resolved during a five-week hospitalization. Three weeks later he died of Clostridium septicum sepsis caused by necrotizing enterocolitis. At autopsy he was found to have multiple hepatocellular neoplasms. A striking feature of the neoplasms was cholestasis. The liver also showed peliosis hepatis. The association of the use of certain androgenic steroids with hepatic neoplasms histologically resembling hepatocarcinomas, but characterized by lack of metastases and apparent reversibility, suggests the desirability of a new nomenclature for these hepatocellular lesions.
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PMID:Multiple hepatic tumors and peliosis hepatis in Fanconi's anemia treated with androgens. 19 56

Adenocarcinoma arising in Barrett's esophagus has recently been described in two children aged 11 and 14 years. The long-term follow-up of Barrett's esophagus in children is not well described. We evaluated 16 cases of Barrett's esophagus in children treated at this institution during the last 16 years. Ages ranged from 1.2 to 16 years (mean, 10.3 years). There were 11 boys and 5 girls. Barrett's esophagus was documented by endoscopy in 14 instances and at autopsy in 2 patients with secretory diarrhea and tetralogy of Fallot who died of sepsis. Two children had cancer (neuroblastoma, leukemia) and died of their malignant disease. Five patients had cerebral palsy, 1 esophageal atresia, 1 Fanconi's anemia, and 5 were otherwise normal children. Six were treated medically. Eight patients underwent Nissen fundoplication for complications of gastroesophageal reflux (GER). Five patients were available for follow-up endoscopy (mean, 2 years; range, 1.1 to 5.4 years). Endoscopy was performed on a yearly basis, obtaining biopsy specimens from multiple levels of the esophagus. Four children had satisfactory clinical response to an antireflux procedure including the resolution of a stricture in one case. However, in all 5 cases persistent metaplastic epithelium was documented and showed no evidence of regression. Although there has been speculation that Barrett's esophagus in children may be more likely to revert to normal squamous epithelium than in the adult, there has been only one case of regression in 180 cases of Barrett's esophagus occurring in children described in 37 reports in the literature.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Persistence of Barrett's esophagus in children after antireflux surgery: influence on follow-up care. 156 27

One hundred and ninety-three nephrotic children with a total of 271 admissions during the past decade, from 1980 to 1989, were retrospectively reviewed for acute complications and unusual features of nephrotic syndrome. One hundred and forty-nine patients were male, 44 female. Hypertension was found in 41 children (21.2%). Nine patients (4.7%) had a total of 11 episodes of hypovolemic shock. These shock patients had a more severe hemoconcentration (mean hemoglobin concentration 19.6 +/- 1.5 g/dl) and hyponatremia (mean serum sodium 127.5 +/- 8.5 mmole/L). Bacterial infections occurred in 28 children (14.5%) with primary peritonitis in 13, sepsis in 6, cellulitis in 4, urinary tract infection in 4 and osteomyelitis in 1. Almost all infections were caused by gram-negative bacilli. Other complications or features included tetany in 4 (2.1%), thromboembolism in 2 (1.0%), pancreatitis in one (0.5%) and Fanconi syndrome in one (0.5%).
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PMID:Complications of nephrotic syndrome in children. 168 Oct 1

We describe six infants, from consanguineous marriages, with a new syndrome comprising the Fanconi syndrome, ichthyosis, musculoskeletal abnormalities, jaundice and diarrhoea. In addition two of the infants were found to have abnormal platelet morphology--the grey platelet syndrome. No evidence of a recognised metabolic disorder was found in any of the six infants, nor did they appear to be typical of any previously described syndromes. Their progress was poor: they required high fluid and bicarbonate intakes and all died by the age of 6 months of dehydration, acidosis and sepsis.
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PMID:Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome. 220 96

Fanconi's anemia is a rare autosomal recessive disorder which manifests itself in early childhood, presenting as pancytopenia, pigmentation changes, skeletal deformities, small statures and chromosomal aberrations. Most patients ultimately die from sepsis as a result of their hematologic abnormalities, however, some patients live long enough to develop malignancies such as leukemia, hepatocellular carcinomas and squamous cell carcinoma. The association of Fanconi's anemia and squamous cell carcinoma is examined with a report of a patient with Fanconi's anemia and squamous cell carcinoma of the pyriform sinus and hypopharynx.
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PMID:The association of Fanconi's anemia and squamous cell carcinoma. 634 59

Two sisters in whom a diagnosis of Fanconi's anemia was made at ages 12 and 18 subsequently developed acute nonlymphocytic leukemia (ANLL). A third sibling had previously died at age 11 of apparent sepsis. Both sisters had cytogenetic studies that showed increased chromosomal breakage and a 46,XX karyotype, but subsequently developed ANLL after, or coincident with, the emergence of monosomy 7. These observations suggest that, in addition to myelodysplastic syndromes and defective neutrophil chemotaxis, monosomy 7 may be associated with the emergence of leukemia in this disorder.
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PMID:Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7. 673 70

The familial occurrence of duodenal atresia is uncommon. This study evaluated the inheritance patterns, the nature and associations, and the presence of immunologic deficits in duodenal atresia recurring in at least three siblings each in two nonrelated families. In the first family, an association with Fanconi's anemia was observed in three of seven pregnancies (2 boys, 1 girl) suggesting an autosomal recessive mode of transmission. Patients died as a result of overwhelming (fungal) septicemia in association with pancytopenia. In a second family, identical multiple atresias occurred in two female siblings born 18 months apart and a third child with a duodenal stenosis. Overwhelming sepsis and a T-cell dysfunction was seen in the postoperative period, which had partially corrected by follow-up at 5 months. A history of family occurrence of duodenal atresia should alert the physician to the possibility of associated pathology including immune deficiency states.
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PMID:Immune deficiency in familial duodenal atresia. 898 5

A Phase II trial of edatrexate in patients with recurrent cervical carcinoma was conducted by the Gynecologic Oncology Group (GOG). Twenty patients were treated with edatrexate at a dose of 80 mg/m2 i.v. weekly for 5 consecutive weeks per cycle. Four patients received an inadequate trial and were inevaluable for response. Among the 16 patients evaluable for response, there were no objective responses: 50% had stable disease, 50% had progressive disease. All 20 patients were evaluable for toxicity, predominantly stomatitis and bone marrow suppression were substantial. Grades 3-4 bone marrow toxicity were observed in eight of 20 (40%) patients, and there were two deaths due to neutropenic sepsis. Fanconi's syndrome, possibly treatment related, was seen in two patients. Edatrexate administered in this dose and schedule has no demonstrated activity and has severe toxicity in patients with previously-treated advanced cervical cancer.
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PMID:A phase II trial of edatrexate in previously treated squamous cell cervical cancer: a Gynecologic Oncology Group study. 902 Feb 94

Fanconi's anemia (FA) is a rare autosomal recessive syndrome associated with a strong predisposition to cancer, particularly squamous cell carcinoma (SCC) of various organs. A few cases of lower genital tract neoplasia have been described. We present a 14-year-old black girl with an advanced squamous cell vulvar carcinoma treated with cisplatin chemotherapy plus radiation therapy. The patient died because of fungal sepsis. Polymerase chain reaction (PCR) was positive to human papillomavirus (HPV)-16. Vulvar carcinoma is a very rare condition in teenagers, but the association of Fanconi's anemia and SCC of many sites is common. Vulvar carcinoma when associated with Fanconi's anemia is a great treatment challenge.
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PMID:Squamous cell vulvar carcinoma associated with Fanconi's anemia: a case report. 1197 85

Five patients with confirmed Fanconi's anemia (FA) and myelodysplasia and/or leukemia underwent stem cell transplantation (SCT) from related donors at KFSHRC. The median age at SCT was 12.6 year (range, 6.2-15 years). Conditioning regimen consisted of cyclophosphamide (CY) 5 mg/kg/day i.v. for 4 days, total body irradiation (TBI) 450 cGy in a single dose. Graft-versus-host disease (GVHD) prophylaxis was with cyclosporine and antithymocyte globulins (ATG). The median time to engraftment (defined as ANC>/=0.5 x 10(9)/l) was 16 days (range, 12-26 days). The median time to a self-sustaining platelet count of >/=20 x 10(9)/l was 27 days (range, 12-40 days). All patients engrafted. Two patients developed acute GVHD; one of the gut (grade 3) and the other of the skin (grade 1), and one patient developed chronic GVHD of the liver. Four are alive and well with no evidence of the disease; one patient died of bacterial sepsis after controlling her GVHD and clearing her pulmonary aspergillosis and CMV infection. We conclude that the use of low-dose CY plus TBI in patients with FA and MDS/AML undergoing SCT is adequate; the regimen is well tolerated and may be curative for such patients.
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PMID:Allogeneic stem cell transplantation in patients with Fanconi's anemia and myelodysplasia or leukemia utilizing low-dose cyclophosphamide and total body irradiation. 1457 32


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