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1.
Indian J Hum Genet ; 2013 Jan; 19(1): 93-95
Artículo en Inglés | IMSEAR | ID: sea-147644

RESUMEN

Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.


Asunto(s)
Adulto , Femenino , Humanos , Lactante , Síndromes Neurocutáneos/epidemiología , Rabdomioma/diagnóstico , Rabdomioma/epidemiología , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/epidemiología , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/epidemiología
2.
Artículo en Inglés | IMSEAR | ID: sea-182227

RESUMEN

Background: Fetal malnutrition (FM) and the terms ‘small for gestational age’ (SGA) and ‘intrauterine growth retardation’ (IUGR) are not synonymous, one may occur without the other. FM can be clinically assessed by using the Clinical Assessment of Nutritional Status (CAN) score. CAN score can assess the prevalence of FM among term newborns and is comparable to anthropometric criteria used to assess fetal growth. Methodology: A prospective cohort study was carried out at a tertiary referral hospital affiliated to a medical college, consisting of 200 singleton full-term neonates over a period of two months. In all neonates complete anthropometric assessment as per standard procedures and determination of weight for gestation was done. On the basis of Alexander and Associates intrauterine growth curves, newborns were classified into SGA and appropriate for gestational age (AGA). FM was assessed using CAN score as a standard and compared with weight for gestation age and Ponderal index (PI) Results: CAN score identified 17.5% (n = 35) malnourished neonates and 82.5% (n = 165) of babies as well-nourished by keeping the cut-off value of <25. Eight percent of AGA babies and 76.8% of SGA babies were found to be well-nourished on comparing weight for gestation age with CAN score. Sixteen (8%) babies were found to have FM using PI but by applying CAN score only 10 babies were found to have FM. The sensitivity and specificity of weight for gestational age were found to 82.85% and 41.81%, respectively and that of PI 28.57% and 96.36%, respectively, when CAN score was taken as standard. Conclusion: This implies that CAN score can identify fetal malnourishment in those neonates, which are missed by other methods.

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