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1.
Pediatr Ann ; 53(1): e34-e36, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38194662

RESUMEN

Transient erythroblastopenia of childhood is a rare, benign, self-limited condition seen in infants and young children. Laboratory studies will show moderate or severe normochromic normocytic anemia accompanied by absent or low reticulocytes, neutropenia, and mild thrombocytosis or thrombocytopenia. The etiology is unclear, but it has been associated with clinical or laboratory evidence of a recent viral syndrome. Initial diagnostic studies should be aimed at identifying potential causes of anemia, but a confirmed diagnosis is usually obtained once the hemoglobin level has normalized spontaneously. Differentiation from Diamond-Blackfan anemia is critical, especially in infants. Once the diagnosis is established, treatment is supportive, but red blood cell transfusion is indicated in severe cases. High clinical suspicion is imperative to avoid needless diagnostic and therapeutic measures. [Pediatr Ann. 2024;53(1):e34-e36.].


Asunto(s)
Anemia Hemolítica Congénita , Anemia , Preescolar , Humanos , Lactante , Pediatras , Enfermedades Raras
2.
J Pediatric Infect Dis Soc ; 12(3): 169-172, 2023 Apr 18.
Artículo en Inglés | MEDLINE | ID: mdl-36537278

RESUMEN

We performed an observational cohort study to assess associations between genetic factors of dengue fever (DF) severity in children in the Dominican Republic. A total of 488 participants had serologically confirmed DF. We replicated the association between the IFIH1 gene (rs1990760) and severe DF (n = 80/488, p = 0.006) and identified novel associations needing further investigation.


Asunto(s)
Dengue , Dengue Grave , Humanos , Niño , Dengue/diagnóstico , Dengue/epidemiología , República Dominicana/epidemiología , Estudios de Cohortes , Genómica
3.
Cureus ; 13(10): e18512, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34692261

RESUMEN

Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular disorder of sex development (OT-DSD) is a condition in which a child is born with both testicular tissue (that possesses variable fertility potential within seminiferous tubules) and ovarian tissue (with primordial follicles). These tissues may be co-existent in the same gonad (ovotestis) or independently in separate gonads. Here, we report the clinical case of a 21-month-old boy that we met during a humanitarian surgical mission performed at Hospital Dr. Francisco Moscoso Puello, Santo Domingo, Dominican Republic. The child was referred for management of hypospadias, cryptorchidism, and symptomatic right inguinal and umbilical hernias. With further chromosomal evaluation, the diagnosis of SRY-negative OT-DSD was made, and shared decision-making was used to determine the timing of gender assignment, reconstruction, and the child's long-term care team. OT-DSD is an uncommon condition with unclear causes. Once a DSD condition is suspected at birth, a complete investigation should be performed, encompassing a descriptive examination, a basic electrolyte and hormonal profile, genetic assessment, and pelvic ultrasound. Consultation with a multidisciplinary team is warranted, including pediatric urology or pediatric surgery with urologic training, endocrinology, genetics, psychology, pathology, and the patient's pediatrician at minimum before surgical reconstruction. It is crucial to involve the patient and their family with shared decision-making before surgery or gender assignment.

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