Publications (17) View all
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Dataset: Current management options for tyrosinemia
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ABSTRACT: Hypertyrosinemia is observed in three inherited disorders of tyrosine metabolism. Hereditary Tyrosinemia Type I (HTT-I), or hepatorenal tyrosinemia, is an autosomal reces-sive disorder caused by mutation in the fumarylacetoacetate hydrolase (FAH) gene. HTT-I is associated with severe involvement of the liver, kidneys, and central nervous system, and is due to toxic accumulation of metabolites of tyrosine, such as succinylacetone. HTT-I is the inborn error with the highest incidence of progression to hepatocellular carcinoma. Elevated succinylacetone, in dried filter paper blood samples, or in plasma or urine, is pathogno-monic and diagnostic for HTT-I and is the most reliable neonatal screening method. Liver transplantation is the definitive management, but the need for this is markedly decreased by the combined dietary and drug management. A diet low in tyrosine and phenylalanine, plus nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione) (NCTB) are consid-ered the gold standard management options. Carnitine and 1,25-OH-vitamin D are adjuvant therapy. Strict follow up with succinylacetone level for monitoring of treatment should be done. Abdominal ultrasonography and abdominal computerized tomography scan or mag-netic resonance imaging should also be done for surveillance of the possible development of hepatocellular carcinoma. -
Dataset: Current management options for tyrosinemia
[show abstract] [hide abstract]
ABSTRACT: Hypertyrosinemia is observed in three inherited disorders of tyrosine metabolism. Hereditary Tyrosinemia Type I (HTT-I), or hepatorenal tyrosinemia, is an autosomal reces-sive disorder caused by mutation in the fumarylacetoacetate hydrolase (FAH) gene. HTT-I is associated with severe involvement of the liver, kidneys, and central nervous system, and is due to toxic accumulation of metabolites of tyrosine, such as succinylacetone. HTT-I is the inborn error with the highest incidence of progression to hepatocellular carcinoma. Elevated succinylacetone, in dried filter paper blood samples, or in plasma or urine, is pathogno-monic and diagnostic for HTT-I and is the most reliable neonatal screening method. Liver transplantation is the definitive management, but the need for this is markedly decreased by the combined dietary and drug management. A diet low in tyrosine and phenylalanine, plus nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione) (NCTB) are consid-ered the gold standard management options. Carnitine and 1,25-OH-vitamin D are adjuvant therapy. Strict follow up with succinylacetone level for monitoring of treatment should be done. Abdominal ultrasonography and abdominal computerized tomography scan or mag-netic resonance imaging should also be done for surveillance of the possible development of hepatocellular carcinoma. -
Dataset: Current management options for tyrosinemia
[show abstract] [hide abstract]
ABSTRACT: Hypertyrosinemia is observed in three inherited disorders of tyrosine metabolism. Hereditary Tyrosinemia Type I (HTT-I), or hepatorenal tyrosinemia, is an autosomal reces-sive disorder caused by mutation in the fumarylacetoacetate hydrolase (FAH) gene. HTT-I is associated with severe involvement of the liver, kidneys, and central nervous system, and is due to toxic accumulation of metabolites of tyrosine, such as succinylacetone. HTT-I is the inborn error with the highest incidence of progression to hepatocellular carcinoma. Elevated succinylacetone, in dried filter paper blood samples, or in plasma or urine, is pathogno-monic and diagnostic for HTT-I and is the most reliable neonatal screening method. Liver transplantation is the definitive management, but the need for this is markedly decreased by the combined dietary and drug management. A diet low in tyrosine and phenylalanine, plus nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione) (NCTB) are consid-ered the gold standard management options. Carnitine and 1,25-OH-vitamin D are adjuvant therapy. Strict follow up with succinylacetone level for monitoring of treatment should be done. Abdominal ultrasonography and abdominal computerized tomography scan or mag-netic resonance imaging should also be done for surveillance of the possible development of hepatocellular carcinoma. -
Article: Diarrhea in neutropenic children with cancer: An Egyptian center experience, with emphasis on neutropenic enterocolitis.
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ABSTRACT: Diarrhea is a frequent complication in children with cancer who received intensive chemotheraputic regimens. It may be caused by several factors, neutropenic enterocolitis (NE) being the most serious. To study diarrhea in neutropenic cancer patients in the pediatric age group, with its underlying etiologies and risk factors, especially the bacterial causes, with special concern on NE. This study was carried out at the Pediatric Hematology and Oncology Units, Zagazig University Hospitals, Egypt, from January 2009 to September 2010. All children with malignant diseases who are ≤12 years of age were included. Patients who were neutropenic (<500/ mm(3)) on admission or who became neutropenic during their stay in the hospital were monitored regularly (daily) for diarrhea. Neutropenic cancer patients with diarrhea were grouped into two groups: Group 1, with NE, and group 2, with neutropenic diarrhea rather than NE. On the first day of diarrhea, patients were subjected to complete blood count, blood cultures, stool microscopy and culture. Abdominal ultrasonography was carried out within 3 days of diarrhea. A total of 200 children ≤12 years old, suffering from different malignancies, with a total of 180 neutropenic episodes were followed. Diarrhea was observed in 100 episodes (55.5%). NE constituted 16% of these diarrheal episodes. All patients with NE had significantly more severe neutropenia, and this was of longer duration than the other group. All patients with NE were febrile, with 100% positive blood culture. Stool analysis diagnosed giardiasis in 4.8% of the non-NE patients and in none of the NE patients, while stool culture was positive in 75% of the NE patients compared with 40.5% of the other group. Diarrhea is a common complication in neutropenic cancer children. Gram negative bacteria and Candida are the most incriminated pathogens. Duration and severity of neutropenia carry a great risk for the development of NE.Indian journal of medical and paediatric oncology 04/2012; 33(2):95-101. -
Article: Benign intrascrotal lipoblastoma in a 4-month-old infant: a case report and review of literature.
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ABSTRACT: Lipoblastomas are rare benign soft tissue tumors that occur primarily in young children. Most lipoblastomas occur in the extremities, trunk, head, and neck. An intrascrotal location is unusual. We describe a case of a 4-month-old infant with an intrascrotal lipoblastoma and discuss the differential diagnosis and review the literature.Journal of Pediatric Surgery 07/2011; 46(7):E9-12. · 1.45 Impact Factor
