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INDONESIA
Journal of Medical Biomedical and Applied Sciences
Published by Innovative Journal
ISSN : -     EISSN : -     DOI : -
Core Subject : Health, Science,
Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology
Arjuna Subject : -
Articles 3 Documents
 1 
Search results for , issue " Vol 6 No 11 (2018)" : 3 Documents clear
Influences on genotype/phenotype correlations in mtDNA-related Leigh syndrome are heterogeneous Finsterer, MD, PhD, Josef
Journal of Medical Biomedical and Applied Sciences Vol 6 No 11 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (93.119 KB)

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Classic Paroxysmal Nocturnal Haemoglobinuria In Children of 11 Years Old: Case Report ; Aires de Freitas, Paulo Henrique
Journal of Medical Biomedical and Applied Sciences Vol 6 No 11 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (100.239 KB) | DOI: 10.15520/jmbas.v6i11.167

Abstract

Introduction: Paroxysmal nocturnal haemoglobinuria is a rare disease, and predominantly affects young adults,although pediatric cases have been reported. It is secondary to mutation in the X-linked gene of PIG-A, leading toloss of GPI-anchored membrane proteins, making the cell vulnerable to hemolysis by complement system.Case report: We report an 11-year-old female patient in follow-up since October 2017, with an initial diagnosis ofautoimmune hemolytic anemia despite DAT (direct antiglobulin test) persistently negative and maintaining haemolyticactivity despite corticosteroid therapy, with fatigue and mild to moderate thrombocytopenia. She was transferred fromhematologic service; a diagnostic review was performed and confirmed classic PNH by immunophenotyping. Dueto the underlying thrombocytopenia, an inventory was performed for bone marrow failures. The other differentialdiagnoses of DAT negative hemolytic anemias (membrane diseases, enzymatic deficiencies and hemoglobinopathies)were investigated and excluded, findings compatible with myelodysplasia were supported by medullary evaluation.Discussion: PNH is a heterogeneous disease and should be considered in all cases of hemolytic anemia with negativeDAT, thrombosis in non-usual sites and in bone marrow failure syndromes. As it is a rare disease and still unknownby most physicians, it is underdiagnosed and several patients are inadvertently given ineffective treatments due toerroneous etiologic diagnoses. The present case is even more relevant given the rarity of the disease in a pediatriccontext, with some clinical presentation peculiarities in this age group.
Genetic confirmation of dysferlinopathy is required before attributing obsessive compulsive disorder to Myoshi myopathy Finsterer, MD, PhD, Josef
Journal of Medical Biomedical and Applied Sciences Vol 6 No 11 (2018)
Publisher : Journal of Medical Biomedical and Applied Sciences

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (108.111 KB) | DOI: 10.15520/jmbas.v6i11.170

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