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2.
J Pediatr Hematol Oncol ; 46(6): e457-e462, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38934620

RESUMEN

The clinical course for Hereditary Spherocytosis (HS) patients is highly varied, even within families with identical driving mutations. Here, we describe four siblings with HS attributed to an unreported SPTB mutation. All patients displayed an increased fraction of mitochondria-positive erythrocytes. This was associated with increased reactive oxygen species (ROS) generation and alteration to alterations to bioactive membrane lipids associated with oxidant stress. Given the early promise for mitophagy-inducing agents in sickle cell disease and ready availability of antioxidants, this concept warrants continued exploration as a disease-modifying factor and a potential target for therapy.


Asunto(s)
Lípidos de la Membrana , Mitocondrias , Estrés Oxidativo , Esferocitosis Hereditaria , Humanos , Esferocitosis Hereditaria/metabolismo , Esferocitosis Hereditaria/genética , Esferocitosis Hereditaria/patología , Masculino , Mitocondrias/metabolismo , Femenino , Lípidos de la Membrana/metabolismo , Niño , Preescolar , Especies Reactivas de Oxígeno/metabolismo , Mutación , Adolescente
4.
Glob Pediatr Health ; 6: 2333794X19857999, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31259211

RESUMEN

Background. The antibiotic resistance patterns of young infants with urinary tract infections (UTIs) have evolved over the past 2 decades. Whether current empiric antibiotic regimens are sufficient in this age group is unknown. Methods. A retrospective review of patients aged 0 to 60 days admitted with a UTI discharge diagnosis. Results. Overall susceptibility to empiric antibiotics was 87%. Antibiotic resistance and length of stay were highest among those who were afebrile, those admitted to the intensive care unit, and those with culture diagnosis of enterococcal infection. The sensitivity and specificity of ultrasound as a screening tool for genitourinary anomaly was 70% and 40%, respectively, with a positive predictive value of 31.8%. Conclusions. Empiric antibiotic regimens cover a high percentage of UTIs in infants. However, high rates of resistance and prolonged length of stay in patients with enterococcal infection highlight the need for continued surveillance of such patients in this age group.

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