Data regarding the outcomes of hematopoietic stem cell transplant (HSCT) for the management of SAMD9L -associated ataxia-pancytopenia syndrome remains limited. We depict the case of a 2-month-old male with a novel mutation in the SAMD9L gene, presenting with respiratory failure, pancytopenia and severe developmental delay. He experienced graft failure 2 months after a 4/6 HLA-matched cord HSCT.
View Article and Find Full Text PDFTo this day, there are limited data about the effects and management of coronavirus disease infection in pediatric patients with sickle cell disease. We present the management and successful clinical course of an 8-year-old female with homozygous sickle cell disease (SS) and severe acute chest syndrome secondary to coronavirus disease 2019 infection, complicated by cortical vein thrombosis.
View Article and Find Full Text PDFThe purpose of the study was to determine if an educational program for parents of newborns can be useful to prevent Shaken Baby Syndrome in Puerto Rican families. Staff training was performed, parents observed an educational video & infant crying management strategies were discussed. Pre-post tests, follow up phone calls and medical chart reviews (53%) were conducted.
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