Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty patients with relapsed pediatric solid tumors received high-dose carboplatin and etoposide with autologous marrow support in a dose-escalation trial. These patients had received extensive prior treatment, which included both cisplatin and etoposide in 25 cases. Six patient cohorts received carboplatin in doses of 1200-2100 mg/m2 and etoposide in doses of 960-1500 mg/m2. All courses were associated with severe neutropenia and thrombocytopenia. The median times from bone marrow infusion to granulocyte recovery (> 0.5 x 10(9)/l) and platelet recovery (> 50 x 10(9)/l) were 33 and 28 days, respectively, with similar findings for all dosage levels. The frequency of non-hematologic toxicities was generally low, although hyponatremia (Na+ < 129 mEq/l) was seen in one-third of the courses. Hepatoxicity was dose-limiting and was significantly associated with the cumulative prior cisplatin dose (p = 0.006). There were four toxic deaths (CNS hemorrhage, alfa-streptococcal sepsis, Candida sepsis, and enterocolitis). Eleven patients received a second course of therapy; toxicity profiles and times to hematologic recovery were similar for the two courses. Clinical responses were observed at all dosage levels. Eleven of 26 evaluable patients achieved a clinical response (one complete, 10 partial). The majority of responses were in patients with neuroblastoma (six of 16) or Hodgkin's disease (two of three). For phase II clinical trials, we recommend dosages of 2100 mg/m2 of carboplatin and 1500 mg/m2 of etoposide for children with prior cumulative cisplatin exposure < 960 mg/m2. This carboplatin dose represents a three- to four-fold increase over pediatric doses tolerated without bone marrow support.
 ...
PMID:Escalating sequential high-dose carboplatin and etoposide with autologous marrow support in children with relapsed solid tumors. 146 10

Cefotiam (CTM) was evaluated for its safety and efficacy in children. Twenty-six patients were treated with 40 to 200 mg/kg per day of CTM by intravenous administrations. The diagnosis of the patients were acute pharyngitis (2), acute bronchitis (1), pneumonia (4), empyema (2), urinary tract infection (2), typhoid fever (1), acute enterocolitis (2), partially-treated purulent meningitis (1), and suspected septicemia in neuroblastoma (1); and the remaining ten patients were considered to have nonbacterial infections. The pathogens recovered were Streptococcus pyogenes (1), Streptococcus pneumoniae (1), Staphylococcus aureus (4), Haemophilus influenzae (4), Escherichia coli (1), enteropathogenic Escherichia coli (1), Salmonella typhi (1), and Campylobacter jejuni (1). All but two patients of bacterial infections were cured after the CTM therapy, and the rate of efficacy was 87.5%. Diarrhea (3), urticaria (1), transient elevation of GOT and GPT (1), and transient eosinophilia (3) were found to be associated with the CTM therapy. However, no severe adverse reactions were encountered. Half life of the serum CTM level was 0.93 +/- 0.13 hours, and excretion into the urine was rapid. CSF concentration obtained 1 hour after an intravenous injection of 21 mg/kg of CTM in a case with inflamed meninges was 1.5 mcg/ml, and the CSF/serum ratio was 9.0%. From these data, CTM appears to be a safe and effective antibiotic when used in children with susceptible bacterial infections.
 ...
PMID:[Clinical evaluation of cefotiam therapy in children (author's transl)]. 627 Apr 13

Despite significant advances in understanding the genetic background in Hirschsprung's disease (HD), the majority of cases are believed to be multigenic and multifactorial. Conditions associated with an increased risk of HD suggest some common inherited factor and include Down's syndrome, Waardenburg syndrome (WS), dominant sensorineural deafness, neurofibromatosis, neuroblastoma, phaechromocytoma, the MEN type 2B syndrome, and other abnormalities. The reported incidence of Down's syndrome in HD is approximately 2%, but the range varies from 2% to 15%. WS, on the other hand, is one of a number of uncommon human conditions in which pigmentary disturbances are associated with sensorineural deafness. HD mutations have been mapped to a number of genes, i.e., RET proto-oncogene, at 10q11.2; the recessive EDNRB gene, located at 13q22; its ligand endothelin 3 (EDN3); and the glial cell line-derived neurotrophic factor (GDNF) in humans. Mutations of known genes appear to account for only a relatively small number of HD cases (20% in the case of RET). GDNF may modulate the disease phenotype by interacting with other susceptibility loci (e.g., RET). The genetic aspects of HD occurring in association with trisomy 21 and WS are reviewed. Clinical presentation, diagnosis, treatment and long-term outcome in this patient group are evaluated. Additional data are presented on 12 children with Down's syndrome out of 408 surgically treated HD patients. The role of associated anomalies is evaluated, and an increased susceptibility to severe enterocolitis associated with a high mortality rate is reported. Surgical correction can be achieved, but patients may require some form of ongoing help to facilitate acceptable bowel function. The decision as to the nature and timing of the surgical correction must be individualized.
 ...
PMID:Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes. 971 53

A premature twin infant girl was transferred to a level IV neonatal intensive care unit for recurrent bloody stools, anaemia and discomfort with feeds; without radiographic evidence of necrotising enterocolitis. Additional imaging after transfer revealed a large retroperitoneal mass in the region of the pancreas compressing the inferior vena cava and abdominal aorta, raising suspicion for neuroblastoma. Abdominal exploration and biopsy unexpectedly revealed that the lesion was an infantile capillary haemangioma involving the small bowel, omentum, mesentery and pancreas. The infant was subsequently treated with propranolol, with a decrease in the size of the lesion over the first year of her life and a drastic improvement in feeding tolerance. While cutaneous infantile haemangiomas are common, visceral infantile haemangiomas are less so and may present a significant diagnostic challenge for clinicians. This interesting case demonstrates that such lesions should be considered in the differential diagnosis for unexplained gastrointestinal bleeding or abdominal symptoms in newborns.
 ...
PMID:Recurrent bloody stools associated with visceral infantile haemangioma in a preterm twin girl. 3056 66