Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease.

Gaucher disease is reckoned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG, have delineated uniformly severe type 1 Gaucher disease manifestations presenting in childhood with large burden of irreversible skeletal disease. Here using Long-Read Single Molecule Real-Time (SMRT) Sequencing of GBA1 locus, we show that RecNciI allele is highly prevalent and associates with severe skeletal manifestations in childhood.

Feohifomicosis por Exserohilum rostratum en un paciente pediátrico con leucemia linfoblástica aguda postransplante de médula ósea / Phaeohyphomycosis by Exserohilum rostratum in a pediatric patient with acute lymphoblastic leukemia after bone marrow transplantation

Resumen El género Exserohilum corresponde a hongos dematiáceos, la mayoría fitopatógenos, saprobios, de los cuales solo tres especies serían patógenas para el hombre: Exserohilum rostratum, Exserohilum longirostratum y Exserohilum mcginnisii. Se han reportado infecciones localizadas y sistémicas causadas por estos agentes, tanto en pacientes inmunocompetentes como inmunosuprimidos. Se presenta un caso de infección cutánea por E. rostratum en un paciente pediátrico con inmunocompromiso.

Abstract The genus Exserohilum consists of dematiaceous or darkly pigmented fungi. Most of the species included in this genus are phytopathogens, saprobes and only three of these species would be pathogenic to humans: Exserohilum rostratum, Exserohilum longirostratum and Exserohilum mcginnisii. Localized and systemic infections have been reported both in immunocompetent and immunosuppressed patients. A clinical case of cutaneous infection by E. rostratum in an immunocompromised pediatric patient is presented in this study.

[Phaeohyphomycosis by Exserohilum rostratum in a pediatric patient with acute lymphoblastic leukemia after bone marrow transplantation]. / Feohifomicosis por Exserohilum rostratum en un paciente pediátrico con leucemia linfoblástica aguda postransplante de médula ósea.

The genus Exserohilum consists of dematiaceous or darkly pigmented fungi. Most of the species included in this genus are phytopathogens, saprobes and only three of these species would be pathogenic to humans: Exserohilumrostratum, Exserohilumlongirostratum and Exserohilummcginnisii. Localized and systemic infections have been reported both in immunocompetent and immunosuppressed patients. A clinical case of cutaneous infection by E. rostratum in an immunocompromised pediatric patient is presented in this study.'