RESUMEN
PURPOSE: To assess the impact of a retinopathy of prematurity (ROP) mentoring program in four rural regions with 31 neonatal units in Colombia between 2011 and 2019. METHODS: Indicators recommended by the national program were used for assessment: screening coverage of eligible preterm newborns, proportion screened with any stage of ROP, and proportion of screened infants treated. Data were also collected on the number of units with ROP services and birth weight (BW) and gestational age (GA) of babies treated. Data on the number of preterm births, BWs of infants screened, and their ROP status (any/none) were extracted from the national health information system. Ophthalmologists in each region provided data on the number screened and treated. A linear-by-linear statistic was used to assess trends in the indicators before and during mentoring. RESULTS: Of the 31 neonatal units, the number providing ROP services increased from 7 (23%) to 26 (84%). The number of eligible infants born in the four regions (total 33,521) was stable over the study period, the proportion screened increased from 14% to 41%, the proportion of those screened who were found to have any ROP tended to decrease overtime, and the proportion of those screened who were treated declined from 9% to 3%, with some regional variation. By year 3 no infant with a BW ≥2000 g or GA of >36 weeks was treated. CONCLUSIONS: In our study, mentoring rural providers proved a valuable strategy for inducing new screening programs, increasing coverage, and improving local capacities in neonatal care and ROP services.
RESUMEN
BACKGROUND: Deficiencies in the thyroid hormone transporter monocarboxylate 8 (MCT8) due to pathogenic variants in the SLC16A2 gene (OMIM 300095) result in a complex phenotype with main endocrine and neurologic symptoms. This rare disorder, named Allan-Herndon-Dudley syndrome (AHDS) (OMIM 300523), is inherited in an X-linked trait. One of the prominent features of AHDS is the presence of movement disorders (MD), which are complex and carry a significant burden of the disease. CASES: Patient 1: male with hypotonia since birth, developmental delay, dystonic posturing at 4 months and at 15 months, and startle reaction developed with sensory stimuli. Patient 2: male, at 2 months, shows hypotonia and developmental delay, paroxysmal episodes triggered by a stimulus with sudden blush, tonic asymmetric posture, and no epileptiform activity. At 10 months, generalized dystonic posturing. Patient 3: typical neurodevelopmental milestones until 6 months; at 24 months, dystonia, startle reaction, and upper motoneuron signs. CONCLUSIONS: We aim to describe our patients diagnosed with AHDS, focusing on MD phenomenology and strengthening the phenotype-genotype correlations for this rare condition.
Asunto(s)
Hipotonía Muscular , Humanos , Masculino , Hipotonía Muscular/genética , Transportadores de Ácidos Monocarboxílicos/genética , Transportadores de Ácidos Monocarboxílicos/deficiencia , Atrofia Muscular/genética , Atrofia Muscular/patología , Lactante , Trastornos del Movimiento/genética , Discapacidad Intelectual Ligada al Cromosoma X/genética , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Simportadores/genética , Simportadores/deficiencia , Colombia , Preescolar , Fenotipo , Discapacidades del Desarrollo/genéticaRESUMEN
La dermatosis denominada larva migrans cutánea: (LMC) es una infección cutánea secundaria a infestación parasitaria por la migración de larvas de anquilostomas animales a la epidermis humana, frecuentemente por contacto directo con suelos contaminados, especialmente en zonas tropicales. Se caracteriza por la aparición de lesiones induradas, eritematosas con patrón irregular o serpiginoso acompañado de prurito. Describimos un caso de LMC en una niña, adquirido durante unas vacaciones en Colombia y tratado inicialmente como celulitis con antibióticos (AU)
Cutaneous larva migrans (CLM) is an infection secondary to parasitic infestation due to the migration of animal hookworm larvae into the human skin, frequently by direct contact with contaminated grounds, especially in the tropics. Clinically, it is characterized by the appearance of indurated, erythematous lesions with irregular or "creeping eruption" pattern and pruritus. This article describes a case of CLM infection in a pediatric patient, it was acquired during the holidays in Colombia, diagnosed as cellulitis and treated accordingly with antibiotics without success (AU)
