No abstract available.
Humans ; Infant, Newborn*

No abstract available.
Congenital Hypothyroidism*

No abstract available.
Pleasure*

No abstract available.
Glomerulonephritis*

No abstract available.
Ankle Fractures* ; Ankle*

Clinical characteristics of 336 infants referred for chromosomal study during neonatal period from Jan. 1985 to Dec. 1994 to the cytogenetic laboratory of St. Mary's Hospital, Catholic University Medical College were reviewed. Karyotypes were analysed from peripheral blood lymphocyte cultures and G-banding was carried out. A thorough survey of the clinical reasons for chromosomal analysis, prevalence of chromosomal abnormalities in each disease category, and the patterns of chromosomal aberrations were done. The results were as follows, 1) Down syndrome was the most common indication for chromosome analysis in the newborn period, consisting of 37.8 % of all cases referred. Other indications included skeletal anomaly, multi-organ anomalies, cleft lip/palate, ambiguous genitalia, odd looking face, gastrointestinal anomaly, central nervous system anomaly, and Turner syndrome. 2) Overall in 42.9 percent of cases referred, chromosomal abnormalities was found. 3) 1'he percentage of final diagnosis in suspected Down syndrome was 85.0 #96. Overall, of the non-Down syndrome cases, 16.7 96 was given a definitive diagnosis of chromosomal abnomality. In each disease category, 57.1 % of suspected Turner syndrome and 37.2 % of multi-organ anomalies had been proved having chromosomal abnormalities. The percentages of chromosomal aberrations in isolated odd looking face, ambiguous genitalia, and skeletal anomaly were relatively low, around 5 %. None of the newborns referred because of cleft lip/palate, congenital anomalies of gastrointestinal tract or central nervous system had abnormal karyotype. 4) 95.1 % of all cases diagnosed to have chromosomal abnormality had autosomal aberrations, the remainder 4.9 % had sex chromosomal aberrations. 5) Trisomy 21 was the most common numerical aberrations of autosomes, consisting of 87.5 % and trisomy 18, trisomy 13, and mosaicism was 7.1 %, 3.6 96 and 1.8 % of total. 6) 90.7 % of Down syndrome were due to trisomy 21, the rest being translocation (7.4 %) and mosaicism (1.9 %).
Abnormal Karyotype ; Central Nervous System ; Chromosome Aberrations ; Cytogenetics ; Diagnosis ; Disorders of Sex Development ; Down Syndrome ; Gastrointestinal Tract ; Humans ; Infant ; Infant, Newborn* ; Karyotype* ; Lymphocytes ; Mosaicism ; Prevalence ; Trisomy ; Turner Syndrome

No abstract available.
Esophageal and Gastric Varices*

No abstract available.
Humans* ; Temporomandibular Joint*

No abstract available.
Chungcheongnam-do* ; Gallstones*

Distal renal tubular acidosis (RTA) is a biochemical syndrome as a deficiency of hydrogen in secretion by the distal tubule and collecting duct. Owing to the nature of the defect, hyperchloremic non-anion gap metabolic acidosis and high urine pH despite severe systemic acidosis is characterized. Typical manifestations of distal RTA are growth retardation, rickets, polyuria and nephrocalcinosis. We experienced a case of distal renal tubular acidosis in a 4 years old female child who complained of growth retardation and gait disturbance. She showed typical hyperchloremic non-anion gap metabolic acidosis and persistent high urine pH. In radiographic examination. we found delayed bone age and severe rachitic changes of wrist, elbow, and knee as well as nephrocalcinosis. In ammonium chloride loading test, high urine pH persisted despite the lowering blood HCO3- concentration. After alkali therapy, she is in well condition with excellent growth velocity and absence of rachitic changes.
Acidosis ; Acidosis, Renal Tubular* ; Alkalies ; Ammonium Chloride ; Child ; Child, Preschool ; Elbow ; Female ; Gait ; Humans ; Hydrogen ; Hydrogen-Ion Concentration ; Knee ; Nephrocalcinosis ; Polyuria ; Rickets ; Wrist