No abstract available.
Metabolism* ; Molecular Biology* ; Prenatal Diagnosis*

No abstract available.
Humans ; Killer Cells, Lymphokine-Activated* ; Killer Cells, Natural*

No abstract available.
Peutz-Jeghers Syndrome*

No abstract available.
Purpura, Thrombocytopenic, Idiopathic*

No abstract available.
Breast Feeding* ; Breast* ; Iron*

An 18-Year-old male hemophiliac with high titer of factorVIII inhibitor, stage V hemophilic arthropathy in right knee joint and a history of hematuria and retroperitoneal hemorrhage was admitted because of acute and massive bleeding of epistaxis, pulmonary hemorrhage and intestinal bleeding. The bleeing was not controolled by massive infusion of factorVIII concentrates but by prothrombin complex concentrates and high dose of factorVIII concentrates. He showned symptoms of sustained fever and diffuse pulmonary infiltration which was diagnosed as pulmonary hemosiderosis by MRI. We suppressed his immune reaction by prednisolne to prevent the formation of factorVIII inhibitor. He has been followed up for 3 years and shown no massive bleeding there-after.
Adolescent ; Epistaxis ; Fever ; Hematuria ; Hemophilia A* ; Hemorrhage ; Hemosiderosis* ; Humans ; Knee Joint ; Magnetic Resonance Imaging ; Male ; Prothrombin

No abstract available.
Asphyxia* ; Evoked Potentials, Auditory* ; Humans ; Infant* ; Infant, Newborn ; Infant, Premature* ; Parturition*

We have experienced a case of congenital pyloric atresia associated with epidermolysis bullosa in a premature newborn who was born at the gestation period of 33+3 week. She showed a few blisters on left ankle at birth and the easy formation of blisters involving the area of trauma or friction with depigmentation after healing. The histologic finding of the lesion showed junctional epidermolysis bullosa. Abdominal roentgenographic finding on day 2 showed single bubble sign. That suggested pyloric atresia. It was confirmed by upper gasrtointestinal series radiography and corrected by surgery, gastrojejunostomy on day 16. She discharged on day 50. The severity of the formation of blisters decreased but the poor weight agin became the main problem. The brief review of literatures was made.
Ankle ; Blister ; Epidermolysis Bullosa* ; Epidermolysis Bullosa, Junctional ; Friction ; Gastric Bypass ; Humans ; Infant, Newborn ; Parturition ; Pregnancy ; Radiography

No abstract available.
Leukemia ; Mucormycosis*

PURPOSE: It is important to diagnose and treat newborn patients with congenital hypothyroidism as soon as possible because of neurodevelopmental outcome. If we can detect more severe forms of congenital hypothyroidism with neonatal screening test, the results of treatment will improve. METHODS: Sixty-four term infants whose TSH levels in neonatal screening test had been higher than 20 micro-International Unit were recalled. Their serum levels of T3, T4, TSH and thyroid scans were checked. They were divided into two groups according to the results, in which T group had transient thyroid disease and P group had permanent congenital hypothyroidism. The TSH levels in neonatal screening test between the two groups were compared and correlated with T3, T4 and TSH levels in their serum. RESULTS: The number of patients of T and P groups were 43 and 13 respectively. The mean TSH level of both group in neonatal screening test was 28.6 micro-International Unit/mL and 55.7 micro-International Unit/mL respectively. The mean TSH level in neonatal screening test is significantly higher in P than T group(P<0.05). If we choose 48 micro-International Unit/mL as a cutoff value, the sensitivity of detecting the P group is 77% and the specificity is 100%. The TSH levels in neonatal screening test had a positive correlation with the serum TSH levels and a negative correlation with the serum T4 levels(r=0.56 P<0.01, r=-0.53 P<0.01). CONCLUSION: If the TSH level in neonatal screening test is greater than 48 micro-International Unit/mL, there is a greater possibility of the permanent and severe congenital hypothyroidism. So we should try to diagnose and treat them more quickly.
Congenital Hypothyroidism* ; Humans ; Infant ; Infant, Newborn ; Neonatal Screening* ; Prognosis* ; Sensitivity and Specificity ; Thyroid Diseases ; Thyroid Gland