Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glutaric aciduria type II (GA II) was proved in a neonate who presented shortly after birth with respiratory distress, metabolic acidosis, non-ketotic hypoglycaemia and a sweaty-feet-like odour. The diagnosis was based on elevated levels of glutaric and other acids in the urine and on studies on cultured skin fibroblasts where defective metabolism of fatty acids of varying chain length was demonstrated. Antenatal diagnosis was performed on a subsequent pregnancy in this family where an abnormal amniotic fluid organic acid profile together with defective fatty acid oxidation in cultured amnion cells was indicative of GA II in the fetus. This is the first report of this genetic disorder in a South African family and it should be considered in suspected organic acidaemia in the neonatal period.
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PMID:Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family. 357 10

The aim of the study is to evaluate the different treatment modalities in the management of gestational trophoblastic tumors (GTT) in a tertiary care setting. One hundred and twenty patients between 16 and 55 years of age (mean 30.6) diagnosed and treated for GTT at the Gynecologic Oncologic Unit, Ain Shams University, between June 1992 and November 1998 were studied. The mean parity of the group was 2.5 (0-12) with a mean follow-up of 47.4 months (16-96). One hundred cases (83.3%) followed a molar pregnancy, while 17 (14.2%) and three (2.5%) had an antecedent abortion and term pregnancy, respectively. By adopting the National Institutes of Health Classification due to its practicality, 65 (54.1%) were nonmetastatic and 55 (45.9%) were metastatic; 17 (14.2%) low-risk metastatic and 38 (31.7%) high-risk metastatic. Forty-two patients (35%) had a hysterectomy, which was curative in 16 (13.3%). In the high-risk metastatic group, 22 patients were treated with EMA achieving a complete stable remission in 19 (86.3%) with one of the remaining three being salvaged by EMA-EP. One hundred fourteen (95%) patients are alive and well without evidence of disease with all six deaths occurring in the high-risk metastatic group. One of the deaths was due to unrelated disease (repeat variceal hemorrhage from portal hypertension), while the remaining five followed nonmolar pregnancies with four having brain and/or liver metastases and another presenting with resistant fatal acute respiratory distress syndrome (ARDS) despite optimal support. By using multivariate analysis, it was found that only the presence of brain and/or liver metastases, followed by an antecedent nonmolar pregnancy and resistance to multiple agent chemotherapy were significant as regards the prognosis of high-risk metastatic GTT. These tumors are highly curable with death almost limited to those with brain and/or liver metastases, particularly following nonmolar pregnancies. In these extremely high-risk categories, elaboration of more intensive and innovative combination chemotherapy protocols is needed in order to achieve better results than those currently reported. In addition the use of EMA instead of EMA-CO deserves to be tested in properly randomized controlled collaborative studies to reduce treatment toxicity.
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PMID:Experience of the Gynecologic Oncology Unit at Ain Shams University in the treatment of gestational trophoblastic tumors. 1124 Jul 19

We report a case of a newborn with Glutaric aciduria type II. Pregnancy was complicated by polyhidramnios and fetal bradycardia. Cardiomegaly was detected by fetal echocardiography. The baby was admitted to the Neonatal Intensive Care Unit of Chieti with respiratory distress syndrome immediately after delivery. He showed head and neck edema, micrognathia, paucity of movement, pronounced hypotonia, bilateral cryptorchidism, micropenis, small hands, skin hyperelasticity and joint hypermobility. Serum and urine analysis showed a fatty acid beta-oxidation disorder. He died at 7 days of age for cardiac arrest and autopsy showed marked hepatic and cardiac vacuolisation, lipid storage myopathy and glial cells vacuolisation. Based upon these findings, we speculate that this infant may be suffering from inborn metabolic disease.
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PMID:Glutaric aciduria type II: a case report. 1638 31

The aim of the current study is to evaluate the different treatment modalities used in the management of high-risk metastatic gestational trophoblastic tumors (GTT) between June 1992 and December 2004 at the Gynecologic Oncology Unit, Ain Shams University. Out of 261 patients diagnosed and treated for GTT, 70 (26.8%) were high risk metastatic patients based on the National Institutes of Health clinical classification. The mean age was 29.39 +/- 9.38 years (16-55 years), with six patients (8.6%) being older than 39 years, and the mean duration of follow-up was 79.74 +/- 40.44 months (6-157 months). Forty patients (57.14%) were diagnosed after molar pregnancy, 22 (31.43%) after abortion, and 8 (11.43%) after term pregnancy. Forty-two patients (60%) were diagnosed within 4 months of the occurrence of the disease, and 28 (40%) were diagnosed after more than 4 months. Sixty-seven patients were treated using different regimens according to the protocol of treatment at that time. The MAC regimen was used initially but has been subsequently abandoned in favor of EMA-CO (etoposide, methotrexate, dactinomycin, cyclophosphamide, and vincristine [Oncovin]) regimen, which was later modified by omitting the CO arm to decrease its toxicity. If resistance developed, platinum-based therapy was given in the form of EMA-EP. Recently, our unit incorporated paclitaxel in the third-line treatment. Surgical intervention was used selectively. Fifty-seven (81.4%) patients could be cured; 43 by initial chemotherapy, with a mean of 7 +/- 0.46 courses (6-15), and 14 were salvaged by second- or third-line chemotherapy. Fourteen patients (20%) died during the study period; one was unrelated to GTT, while three died of acute respiratory distress syndrome before instituting proper therapy and two died of treatment complications. Using univariate and multivariate Cox regression analyses, the presence of brain and/or liver metastases was found to be the worst prognostic variable affecting the survival, followed by resistance to combination chemotherapy and then the type of antecedent pregnancy. The projected 5-year survival as estimated by Kaplan-Meier method was 78%.
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PMID:Evolution of treatment of high-risk metastatic gestational trophoblastic tumors: Ain Shams University experience. 1668 75