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1.
Cardiovasc Intervent Radiol ; 37(4): 1027-33, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24149831

RESUMO

PURPOSE: Both glycogen storage disease type Ia (GSD Ia) and tyrosinemia type I (TYR I) are inherited metabolic disorders that can be complicated by formation of liver adenomas in juvenile/young adult age and/or development of hepatocellular carcinoma. We describe the first application of stereotactic radiofrequency ablation (SRFA) in focal lesions in three patients with inherited metabolic disorders affecting the liver. METHODS: SRFA was applied for removal of single large liver adenomas in a 22-year-old woman and a 20-year-old man with GSD Ia and of a suspicious lesion in a 16-year-old girl with TYR I with α-fetoprotein (AFP) elevation. RESULTS: SRFA was successful. Large scars were avoided, and in the TYR I patient, elevated AFP values promptly returned to normal. CONCLUSION: The SRFA technique is a good alternative to surgical resection of focal liver lesions and could greatly help patients with inherited metabolic disorders with liver involvement, including focal liver lesions and potential malignancy.


Assuntos
Ablação por Cateter/métodos , Doença de Depósito de Glicogênio Tipo I/complicações , Neoplasias Hepáticas/etiologia , Neoplasias Hepáticas/cirurgia , Tirosinemias/complicações , Adolescente , Feminino , Humanos , Neoplasias Hepáticas/patologia , Masculino , Radiografia Intervencionista , Resultado do Tratamento , Adulto Jovem , alfa-Fetoproteínas/análise
2.
Pediatr Hematol Oncol ; 29(7): 585-94, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22897717

RESUMO

Dedicator of cytokinesis 8 protein (DOCK8) deficiency is a combined immunodeficiency disorder characterized by an expanding clinical picture with typical features of recurrent respiratory or gastrointestinal tract infections, atopic eczema, food allergies, chronic viral infections of the skin, and blood eosinophilia often accompanied by elevated serum IgE levels. The only definitive treatment option is allogeneic hematopoietic stem cell transplantation (HSCT). We report a patient with early severe manifestation of DOCK8 deficiency, who underwent unrelated allogeneic HSCT at the age of 3 years following a reduced toxicity conditioning regimen. The transplant course was complicated by pulmonary aspergilloma pretransplantation, adenovirus (ADV) reactivation, and cytomegalovirus (CMV) pneumonitis 4 weeks after transplantation. With antifungal and antiviral treatment the patient recovered. Seven months after transplantation the patient is in excellent clinical condition. Eczematous rash, chronic viral skin infections, and food allergies have subsided, associated with normalization of IgE levels and absolute numbers of eosinophils. Chimerism analysis shows stable full donor chimerism. DOCK8 deficiency can be successfully cured by allogeneic HSCT. This treatment option should be considered early after diagnosis, as opportunistic infections and malignancies that occur more frequently during the natural course of the disease are associated with higher morbidity and mortality.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/deficiência , Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/terapia , Condicionamento Pré-Transplante , Pré-Escolar , Análise Mutacional de DNA , Feminino , Fatores de Troca do Nucleotídeo Guanina/genética , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Síndromes de Imunodeficiência/imunologia , Mutação , Linhagem , Condicionamento Pré-Transplante/efeitos adversos , Transplante Homólogo
3.
Epilepsia ; 46(10): 1677-83, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16190942

RESUMO

PURPOSE: To assess the prevalence of hyperhomocysteinemia in pediatric patients treated with antiepileptic drugs (AEDs) and to evaluate the effect of folic acid supplementation on plasma total homocysteine (tHcy) concentrations in hyperhomocysteinemic patients. METHODS: 123 patients from three regional hospitals participated in the study. Patients with hyperhomocysteinemia were included in a 3-month double-blind randomized trial testing oral folic acid supplementation (1 mg/day) versus placebo. RESULTS: Hyperhomocysteinemia (tHcy >10.4 micromol/L) was present in 19 of 123 patients. Patients with hyperhomocysteinemia were older (13.7 +/- 4 vs. 11.0 +/- 3.9 years) and had significantly lower folate and cobalamin concentrations. Multidrug (two or more) AED treatment and duration of therapy correlated significantly with elevated total homocysteine (tHcy) and low folate. In contrast, polymorphisms in the methylene tetrahydrofolate reductase gene (MTHFR 677 C-->T, 1298 A-->C, 1793 G-->A) had no significant impact on tHcy. Nine of 19 patients with hyperhomocysteinemia were randomized to placebo, whereas the remaining 10 patients received folic acid supplementation. Folic acid supplementation resulted in a significant increase of folate and decrease of tHcy, whereas both parameters remained unchanged in the placebo group. CONCLUSIONS: Hyperhomocysteinemia is present in 15.5% of children receiving long-term AED treatment. Multidrug treatment and long duration of therapy enhance the risk for hyperhomocysteinemia. Folic acid supplementation significantly reduces tHcy. We recommend assessment of serum folate and plasma tHcy in children receiving AEDs.


Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsia/tratamento farmacológico , Ácido Fólico/uso terapêutico , Hiper-Homocisteinemia/induzido quimicamente , Hiper-Homocisteinemia/tratamento farmacológico , Anticonvulsivantes/uso terapêutico , Criança , Suplementos Nutricionais , Método Duplo-Cego , Quimioterapia Combinada , Epilepsia/sangue , Ácido Fólico/sangue , Deficiência de Ácido Fólico/sangue , Deficiência de Ácido Fólico/tratamento farmacológico , Homocisteína/sangue , Humanos , Hiper-Homocisteinemia/sangue , Resultado do Tratamento , Vitamina B 12/sangue , Vitamina B 12/uso terapêutico
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