RESUMEN
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. At 9 months old, an unsuccessful unrelated donor search prompted a haploidentical HSCT with successful engraftment. He sustains excellent donor chimerism and has improved developmentally over 2 years posttransplant. This case demonstrates haploidentical HSCT as a viable option for patients with SAMD9L mutation and no acceptable unrelated donor.
Asunto(s)
Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Pancitopenia , Trasplante de Médula Ósea , Ataxia Cerebelosa , Humanos , Lactante , Masculino , Mutación , Acondicionamiento Pretrasplante , Donante no EmparentadoRESUMEN
To 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.
Asunto(s)
Anemia de Células Falciformes/complicaciones , COVID-19/complicaciones , Síndrome de Respuesta Inflamatoria Sistémica/complicaciones , Anemia de Células Falciformes/patología , Anemia de Células Falciformes/terapia , Antibacterianos/uso terapéutico , Azitromicina/uso terapéutico , COVID-19/patología , COVID-19/terapia , Ceftriaxona/uso terapéutico , Niño , Transfusión de Eritrocitos , Femenino , Humanos , Unidades de Cuidados Intensivos , Síndrome de Respuesta Inflamatoria Sistémica/patología , Síndrome de Respuesta Inflamatoria Sistémica/terapiaRESUMEN
The 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. A total of 65 newborns participated (62 mothers, 11 fathers). Parents reported that 50% had college studies, 78.7% lived together and 83.1% had government insurance. Pre-post tests demonstrated increase in knowledge (p < 0.05). Over 75% were contacted; 94% recalled learned strategies & 98% reported the infants had been well. Two infants were removed from home; no incidents of head trauma were reported. Almost half (44.5%) indicated taking care of the baby was difficult; managing the baby's crying was most difficult. All reported the program helped them. The program should be offered in other hospitals.
