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1.
Korean Journal of Pediatric Hematology-Oncology ; : 293-298, 2003.
Artículo en Coreano | WPRIM | ID: wpr-194902

RESUMEN

Dyskeratosis congenita (DC) is a rare genetic disorder encompassing abnormal skin pigmentation, dystrophic nails, leukoplakia of mucous membranes and others. Bone marrow failure is the cause of early mortality. Moreover, DC is known for its predisposition to malignancy. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. We describe here a rare case of DC in a 4-year-old girl showing dark skin, dystrophic toe nails, and mild bone marrow failure. Autosomal recessive disease was suggested as the patient is female, and tests for DKC1 and hTR mutations were negative. Intermittent treatment with oxymetholone and prednisolone for about 26 months resulted in stable hemoglobin and platelet response.


Asunto(s)
Preescolar , Femenino , Humanos , Plaquetas , Médula Ósea , Disqueratosis Congénita , Leucoplasia , Mortalidad , Membrana Mucosa , Oximetolona , Prednisolona , Piel , Pigmentación de la Piel , Dedos del Pie
2.
Journal of the Korean Society of Neonatology ; : 10-17, 2001.
Artículo en Coreano | WPRIM | ID: wpr-116656

RESUMEN

PURPOSE: We investigated the factors influencing the time to reach full enteral feeding in very low birth weight infants. We compared the days of life to start tube or oral feeding, to regain birth weight, and to establish full enteral feeding in very low birth weight infants and determined the risk factors delaying full enteral feeding. METHODS: We reviewed the medical records of 214 newborn infants less than 1,500 g at birth, who were delivered at Chonnam National University Hospital from January 1, 1997 to May 31, 2000. These infants were divided into three groups by birth weight (less than 1,000 g, 1,000-1,249 g, and 1,250-1,499 g). Gestational age, birth weight, the days of life to start first tube or oral feeding, to regain bith weight and to reach full enteral feeding, and the possible risk factors delaying the progress of enteral feeding were analyzed. RESULTS: The gestational age was 29.69+/-2.33 weeks and the birth weight was 1,212+/-194.3 g. The time to start tube or oral feeding, to regain birth weight, and to establish full enteral feeding were significantly later and longer in the lower birth weight group. The time to reach full enteral feeding was related to the duration of mechanical ventilation and oxygen therapy, and was significantly longer in the infants with severe respiratory distress syndrome (RDS), chronic lung disease (CLD), apnea, intraventricular hemorrhage (IVH), cystic periventricular leukomalacia, sepsis/disseminated intravascular coagulopathy, ricketts, and total parenteral nutrition. CONCLUSION: The time to reach full enteral feeding was inversely related to the birth weight, and the risk factors for delayed full enteral feeding were the presence and/or the severity of diseases related to the prematurity such as the duration of mechanical ventilation and oxygen therapy, RDS, CLD, apnea, IVH, and sepsis.


Asunto(s)
Humanos , Lactante , Recién Nacido , Apnea , Peso al Nacer , Nutrición Enteral , Edad Gestacional , Hemorragia , Recién Nacido de muy Bajo Peso , Leucomalacia Periventricular , Enfermedades Pulmonares , Registros Médicos , Oxígeno , Nutrición Parenteral Total , Parto , Respiración Artificial , Factores de Riesgo , Sepsis
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