RESUMEN
OBJECTIVE: To examine the relationship of race and maternal characteristics and their association with cord blood vitamin D levels and small-for-gestational-age (SGA) status. STUDY DESIGN: Cord blood vitamin D levels were measured in 438 infants (276 black and 162 white). Multivariable logistic regression models were used to evaluate associations between maternal characteristics, vitamin D status and SGA. RESULTS: Black race, Medicaid status, mean body mass index at delivery and lack of prenatal vitamin use were associated with vitamin D deficiency. Black infants had 3.6 greater adjusted odds (95% confidence interval (CI): 2.4, 5.6) of vitamin D deficiency when compared with white infants. Black infants with vitamin D deficiency had 2.4 greater adjusted odds (95% CI: 1.0, 5.8) of SGA. Vitamin D deficiency was not significantly associated with SGA in white infants. CONCLUSION: Identification of risk factors (black race, Medicaid status, obesity and lack of prenatal vitamin use) can lead to opportunities for targeted prenatal vitamin supplementation to reduce the risk of neonatal vitamin D deficiency and SGA status.
Asunto(s)
Negro o Afroamericano , Sangre Fetal/química , Recién Nacido Pequeño para la Edad Gestacional/sangre , Vitamina D/sangre , Población Blanca , Adulto , Índice de Masa Corporal , Femenino , Humanos , Recién Nacido , Modelos Logísticos , Masculino , Medicaid , Análisis Multivariante , Obesidad/complicaciones , Embarazo , Estudios Retrospectivos , Factores de Riesgo , Estados Unidos , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/etnología , Vitaminas/sangre , Adulto JovenRESUMEN
BACKGROUND: Retinoblastoma is the most common intraocular malignancy of childhood. There is a paucity of genetic testing and prenatal genetic diagnosis from India, which has the highest incidence worldwide. MATERIALS AND METHODS: RB1 gene screening of an 8-month-old female child with bilateral retinoblastoma was accomplished using next generation sequencing. The results were used for prenatal testing in this family. RESULTS: A heterozygous germline mutation (chr13: 48951119delA; c.1281delA) was detected, which resulted in premature termination of a protein product (p.Glu428Argfs*29). Prenatal testing in maternal DNA revealed carrier status of the mother. Further clinical examination in the family members revealed retinocytomas in both eyes of the mother and maternal grandmother. Prenatal genetic testing of the developing fetus showed positivity for the mutation. As the family preferred to continue the pregnancy, serial 3-D ultrasounds were carried out every 2 weeks in the third trimester. Ten days after delivery, small extrafoveal tumors developed in both eyes, which were then treated successfully with transpupillary thermotherapy. CONCLUSION: We report the significance of genetic testing in the early detection and management of retinoblastoma from India.
Asunto(s)
Genes de Retinoblastoma , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Diagnóstico Prenatal , Neoplasias de la Retina/genética , Proteínas de Unión a Retinoblastoma/genética , Retinoblastoma/genética , Ubiquitina-Proteína Ligasas/genética , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carboplatino/uso terapéutico , Análisis Mutacional de ADN , Etopósido/uso terapéutico , Exones/genética , Femenino , Pruebas Genéticas , Humanos , India , Lactante , Linaje , Terapia de Protones , Neoplasias de la Retina/diagnóstico , Retinoblastoma/diagnóstico , Vincristina/uso terapéuticoRESUMEN
To compare structural and functional outcome and time efficiency between standard spot sized conventional pulsed mode diode laser and continuous mode large spot transpupillary thermotherapy (LS TTT) for treatment of high risk prethreshold retinopathy of prematurity (ROP). Ten eyes of five preterm babies having bilateral symmetrical high risk prethreshold ROP were included in this study. One eye of each baby was randomized to get either standard spot sized conventional pulsed mode diode laser or continuous mode LS TTT. There was no significant difference between structural or functional outcome in either group. The mean time taken for conventional diode laser was 20.07 minutes, while that for LS TTT was 12.3 minutes. LS TTT was 40% more time efficient than the conventional laser. It may be better suited for the very small fragile premature infants as it is quicker than the conventional laser.
Asunto(s)
Hipertermia Inducida/métodos , Terapia por Láser/métodos , Retinopatía de la Prematuridad/terapia , Femenino , Humanos , Hipertermia Inducida/normas , Recién Nacido , Recien Nacido Prematuro , Láseres de Semiconductores/uso terapéutico , Masculino , Factores de Tiempo , Resultado del TratamientoRESUMEN
Retinoblastoma is a rare malignancy of the retina seen exclusively in children. It is known to cause rapid growth inside the eye and hence treatment should be started as soon as it is diagnosed. We report a case in a five-day-old infant in whom treatment (chemotherapy) was delayed by a month due to high bilirubin levels secondary to physiological jaundice, which gave us the unique opportunity to measure the growth of the tumor over a month. This case emphasizes that immediate treatment is warranted once this rare disease is diagnosed.