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Acute soft head syndrome (ASHS) is a rare complication of sickle cell disease that often requires a high index of suspicion and is often a diagnosis of exclusion. We present the case of an 18-year-old male with sickle cell disease in the United States who developed acute soft head syndrome without known traumatic injury. The goal of this case presentation is to provide awareness and education regarding a rare complication of sickle cell disease and recommended management for the associated symptoms.
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ABSTRACT: Gastroesophageal reflux (GER) is a common physiologic occurrence in infants, children, and adolescents and can develop into a pathological process (GERD) with associated complications. Gastroesophageal reflux is reported in approximately 30% of healthy infants, with a peak age of 3 to 4 months and is a common concern from families presenting to the emergency department. Evaluation and diagnosis of GER/GERD is primarily clinical and requires a detailed history, a complete physical examination, and exclusion of more severe extraesophageal pathologies. A high index of suspicion for GERD should be considered in patients with recurrent respiratory symptoms, difficulty with weight gain, and children with medically complex conditions who would be at higher risk for these complications. This review will briefly discuss diagnostic studies for the evaluation of GER/GERD; however, these are not helpful in the acute care setting and should be reserved for evaluation by a subspecialist. Management of GER/GERD includes nonmedication management with reflux precautions and dietary/lifestyle modifications; medication management with proton-pump inhibitors, H2 blockers, antacids, or prokinetics, as well as surgical management for refractory or high-risk cases.
Asunto(s)
Reflujo Gastroesofágico , Adolescente , Niño , Lactante , Humanos , Reflujo Gastroesofágico/diagnóstico , Reflujo Gastroesofágico/terapia , Servicio de Urgencia en Hospital , Afecto , Cuidados Críticos , Examen FísicoRESUMEN
BACKGROUND: This study focuses on the implementation of CYP2D6 genetic test profiling and the challenges associated with using standard pharmacogenetics panels in a diverse South Florida population. METHODS: A total of 413 participants were recruited to participate in this study through Nicklaus Children's Hospital. Buccal swabs were collected and tested using an extended CYP2D6 panel including 22 alleles. Phenotype, genotype, and allelic frequencies were compared among different racial and ethnic groups. RESULTS: The majority of participants (75.0%) self-identified as Hispanics. Four alleles, CYP2D6*4, *17, *41, and *2A, showed a statistically significant difference between White Hispanics and Black Non-Hispanics. Aggregate frequency of all alleles with decreased function varied between 2.8% and 50.0% in different racial and ethnic groups. Additionally, rare allele combinations were observed in this South Florida cohort. CONCLUSIONS: The heterogeneity among Hispanic groups demonstrated in previous literature and by this study reflects the complexity of ethnicity and suggests that a more granular categorization is needed, one based on ancestry and migration history rather than primary language. Overall, we have determined that there are statistically significant differences in CYP2D6 allele frequencies in the distinct racial and ethnic populations of South Florida, demonstrating a unique genetic makeup within South Florida. However, overall, the frequencies of Poor Metabolizer, Normal Metabolizer, Intermediate Metabolizer, and Ultrarapid Metabolizer did not differ between racial and ethnic groups at a statistically significant level.
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Citocromo P-450 CYP2D6/genética , Etnicidad/genética , Frecuencia de los Genes , Grupos Raciales/genética , Adolescente , Adulto , Alelos , Niño , Preescolar , Citocromo P-450 CYP2D6/metabolismo , Florida , Genotipo , Humanos , Lactante , Farmacogenética , Fenotipo , Polimorfismo de Nucleótido Simple , Adulto JovenRESUMEN
Over the past decades, there has been considerable progress in the capability and application(s) of technology in the neurosciences. The tools of neurotechnology conjoin advances made in other disciplines, including nanoscience, to offer somewhat unique properties and capabilities that affect multiple dimensions of neural systems via implantable devices that afford articulation and manipulation at the subcellular scale. However, while striving for good, it is equally important to regard potential to generate major ethical, legal, and social issues (ELSI) that arise in, and from the study and applications of implantable nano-neurotechnologies. This paper discusses specific properties and uses of various nano-neurotechnologies, and addresses proximate and distal ELSI. We argue that the fusion of nano- and neuroscience and technologies give rise to unique risks and burdens, but posit that a frank precautionary principle might be unrealistic given the demiurge of progress. Rather, we call for a dialectical approach that balances technological incentives with responsibility for inquiry, application, and consequences, and advocate that potential ELSI must be appreciated early and throughout the research and development process.