RESUMO
Myeloproliferative neoplasms (MPN) are rare disorders in young patients, and because of this, standardized treatment recommendations are not available. Pediatric patients are more frequently treated with hydroxyurea than interferon, yet there are no data suggesting this is the best practice. Current treatment guidelines for adults suggest using interferon as upfront therapy in young patients. We reviewed the cases of 13 young patients with polycythemia vera or essential thrombocythemia, who were treated with interferon. Extreme thrombocytosis was well controlled and the medication was tolerated by many. Our work shows the need for prospective studies evaluating interferon in our youngest patients with MPN.
Assuntos
Antivirais/uso terapêutico , Interferon alfa-2/uso terapêutico , Interferon-alfa/uso terapêutico , Policitemia Vera/tratamento farmacológico , Polietilenoglicóis/uso terapêutico , Trombocitemia Essencial/tratamento farmacológico , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Policitemia Vera/patologia , Prognóstico , Proteínas Recombinantes/uso terapêutico , Trombocitemia Essencial/patologia , Adulto JovemRESUMO
Pediatric stroke presents with a variety of signs and symptoms. Correct modality of imaging is essential in decreasing the time from symptom onset to appropriate management. Evaluation of pediatric stroke should include both blood work as well as imaging in a parallel rather than a sequential matter. We report a case of a child with a bow hunter's stroke that was challenging to diagnose. This type of stroke happens when the vertebral artery is occluded at the atlantoaxial or subaxial level during neck rotation. This case demonstrates that workup of stroke should be comprehensive to include all mechanical and anatomic possibilities before investigating rarer hypercoagulable disorders.
Assuntos
Articulação Atlantoaxial/patologia , Instabilidade Articular/terapia , Manipulação Quiroprática/efeitos adversos , Acidente Vascular Cerebral/etiologia , Criança , Humanos , Masculino , Prognóstico , Recidiva , Acidente Vascular Cerebral/patologiaRESUMO
Vici syndrome is a rare congenital disorder first described in 1988. To date, 31 cases have been reported in the literature. The characteristic features of this syndrome include: agenesis of the corpus callosum, albinism, cardiomyopathy, variable immunodeficiency, cataracts, and myopathy. We report two Hispanic sisters with genetically confirmed Vici syndrome who both developed Idiopathic Thrombocytopenic Purpura. To our knowledge, this is an immunologic process that has been previously undescribed within the phenotype of Vici syndrome and should be added to the spectrum of variable immune dysregulation that can be found in these patients.
Assuntos
Agenesia do Corpo Caloso/genética , Catarata/genética , Proteínas/genética , Púrpura Trombocitopênica Idiopática/genética , Agenesia do Corpo Caloso/complicações , Agenesia do Corpo Caloso/fisiopatologia , Proteínas Relacionadas à Autofagia , Catarata/complicações , Catarata/fisiopatologia , Códon sem Sentido , Corpo Caloso/crescimento & desenvolvimento , Corpo Caloso/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Proteínas de Membrana Lisossomal , Púrpura Trombocitopênica Idiopática/complicações , Púrpura Trombocitopênica Idiopática/fisiopatologia , Proteínas de Transporte VesicularRESUMO
The treatment of vascular malformations and vascular anomalies is often complex, combining various approaches in the art of medicine to provide best outcomes and quality of life for these patients. Treatment may include but is not limited to the following: local control with compression garments and attire, pain control, surgical procedures and debulking, laser therapy, sclerotherapy, and medical management. In this article, the authors discuss the aspects of medical management, visiting the history of medical treatment, and the recent utilization and success of enzymatic pathway inhibitors, specifically sirolimus and new therapies that hold promise for the future for these patients.
Assuntos
Qualidade de Vida , Malformações Vasculares , Humanos , Sirolimo/efeitos adversos , Resultado do Tratamento , Malformações Vasculares/terapiaRESUMO
Von Willebrand disease (VWD) is the most common inherited bleeding disorder worldwide. Genetic mutations in the von Willebrand gene may result in either quantitative (Types 1 or 3) or qualitative defects (Type 2) of von Willebrand Factor (vWF). Type 3 is the rarest and most severe form of VWD, resulting in a virtual absence of vWF. Type 3 VWD follows autosomal recessive inheritance and is most often reported in patients who are homozygous for the same gene mutation. We report a patient with type 3 VWD who inherited two different mutations, one from each parent, resulting in compound heterozygosity.
Assuntos
Doença de von Willebrand Tipo 3/genética , Pré-Escolar , Feminino , Heterozigoto , Humanos , Masculino , Mutação/genéticaRESUMO
Children with immune thrombocytopenia (ITP) are often managed using a watch-and-wait approach to avoid conventional treatment that may be poorly tolerated. However, in some patients, this approach may lead to lifestyle restrictions due to risk of injury-related bleeding. Eltrombopag is a well-tolerated new option that may help these children.
RESUMO
OBJECTIVE: Although improvements in the management of sickle cell disease (SCD) have increased patient survival into adulthood, morbidity and mortality from end-organ damage remain major concerns. One of the most serious complications of SCD is renal failure, affecting about 20% of patients. The clinical manifestations of sickle cell nephropathy (SCN) involve changes in glomerular ultrastructure, albuminuria, and a progressive decline in glomerular hemodynamics. The mechanisms or factors that promote SCN are not fully elucidated. In the present study, the role of renal kallikrein as a risk marker for promoting SCN was explored in a cross-sectional study. METHODS AND RESULTS: We measured the urinary excretion rate of active kallikrein in 73 children with sickle cell anemia (hemoglobin SS, SC, or S thalassemia) and in 30 control healthy African American children. The findings demonstrated that a significant difference in the excretion rate of log kallikrein in male versus female patients with SCD, P<0.0078 was observed. In children with SCD, cross-sectional analysis revealed a positive and significant correlation between the excretion rate of active kallikrein and log albumin excretion rate (AER), P<0.0088. Regression analysis also determined that the excretion rate of active kallikrein negatively correlates with hemoglobin in children with SCD, P<0.0096. In addition, an inverse relationship between log AER and hemoglobin was observed in male patients with SCD, P<0.0143. In children with SCD, cross-sectional analysis revealed a positive and significant correlation between log AER and age, suggesting age as a risk marker for AER in SCD. In multivariate regression analysis, our findings demonstrate a strong association between log AER and age and log kallikrein in children with SCD. About 20% of the variability in log AER in SCD patients is influenced by age and 6% is influenced by log kallikrein, P<0.0001 and P<0.02, respectively. CONCLUSIONS: These findings provide the first evidence that the excretion rate of active kallikrein is positively and independently correlated with log AER in children with SCD, and suggest that kallikrein could be a marker for progressive nephropathy. Longitudinal studies are essential to address this issue.