RESUMO
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.
Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Pancitopenia , Transplante de Medula Óssea , Ataxia Cerebelar , Humanos , Lactente , Masculino , Mutação , Condicionamento Pré-Transplante , Doadores não RelacionadosRESUMO
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.
Assuntos
Anemia Falciforme/complicações , COVID-19/complicações , Síndrome de Resposta Inflamatória Sistêmica/complicações , Anemia Falciforme/patologia , Anemia Falciforme/terapia , Antibacterianos/uso terapêutico , Azitromicina/uso terapêutico , COVID-19/patologia , COVID-19/terapia , Ceftriaxona/uso terapêutico , Criança , Transfusão de Eritrócitos , Feminino , Humanos , Unidades de Terapia Intensiva , Síndrome de Resposta Inflamatória Sistêmica/patologia , Síndrome de Resposta Inflamatória Sistêmica/terapiaRESUMO
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.