No abstract available.

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.
Child, Preschool ; Chromosome Disorders/*diagnosis ; Chromosomes, Human, Pair 12 ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization ; Infant ; Male ; Tetrasomy

No abstract available.
Mesenteric Artery, Superior*

No abstract available.
Adenoma* ; Cervix Uteri* ; Female

No abstract available.
Adenoma* ; Cervix Uteri* ; Female

No abstract available.
Hydronephrosis* ; Turner Syndrome*

No abstract available.
Pregnancy Rate* ; Pregnancy*

A statistical study of soldiers who visited the outpatient ciepartment of the Capital Armed Forces General Fiospital from 1987 to 1989 was performed. The results were as follows : 1. The total number of outpatients was 9969 with peak clinic visits in June(11.2%) and the lowest number of clinic visits in February(6.4% ). 2. The most frequent age was 22 years(20.7% ). Soldiers between 19 and 24 years old comprised 68.1% of total patients. 3. By rank 69.3% of the outpatients were private', 16.0% sergeant and 14,4% officers. 4. The most common dermatoses were dermatophytosis, contact dermatitis, scabies, acne, seborrheic dermatosis, urticaria, alopecia, condyloma acuminatum, verruca, folliculitis, psoriasis, insect bite reactions, pityriasis rosea, herpes zoster and corns. 5. Frequent diseases, which occured during summer season, included dermatophytosis, contact dermatitis and inser,t bites. The incidence of scabies, pityriasis prsea was increased during winter and that of psoriasis was increased during spring.
Acne Vulgaris ; Alopecia ; Ambulatory Care ; Arm ; Callosities ; Dermatitis, Contact ; Folliculitis ; Herpes Zoster ; Humans ; Incidence ; Insect Bites and Stings ; Military Personnel* ; Outpatients ; Pityriasis ; Pityriasis Rosea ; Psoriasis ; Scabies ; Seasons ; Skin Diseases* ; Statistics as Topic* ; Tinea ; Urticaria ; Warts ; Young Adult ; Zea mays

PURPOSE: Thyroid disease is the most common endocrine disease in childhood. Thyroid hormone has critical effects on growth and development, especially in childhood. We survey the prevalence, sex and age distribution, symptoms and thyroid function states of thyroid diseases in childhood. METHODS: Three hundred ninety one children who were diagnosed as having thyroid disease at department of pediatrics, St. Mary's hospital from Jan. 1987 to Dec. 1998 enrolled in this study. RESULTS: 1) The ratio between male and female patients was 1: 5.3. Age distribution was puberty, school age and infancy in their order of frequency. 2) The results of thyroid function tests showed normal function in 210 cases (53.7%), increased function in 95 cases(24.3%), and decreased function in 86 cases (22%). 3) Simple goiter, Graves disease, and chronic lymphocytic thyroiditis were the most common diseases in euthyroid, hyperthyroid, and acquired hypothyroid state, respectively. 4) The most common sign and symptom was goiter in euthyroid(100%), hyperthyroid(98.8%) and acquired hypothyroid state(96.2%). Forty of 68 cases(58.8%) with congenital hypothyroidism were detected by neonatal screening. CONCLUSION: Simple goiter, chronic lymphocytic thyroiditis and Graves disease were common acquired thyroid diseases in childhood, and goiter is the most common clinical manifestation in acquired thyroid disease. Recently, increasing number of congenital hypothyroidism was detected by neonatal screening test.
Adolescent ; Age Distribution ; Child ; Congenital Hypothyroidism ; Endocrine System Diseases ; Female ; Goiter ; Graves Disease ; Growth and Development ; Hashimoto Disease ; Humans ; Infant, Newborn ; Male ; Neonatal Screening ; Pediatrics ; Prevalence ; Puberty ; Thyroid Diseases* ; Thyroid Function Tests ; Thyroid Gland*

We report a case of congenital candidiasis confined to the rail plates in a 57-day-old girl whose infected nails exhibited the rough, yellow-white, thickened, opaque distal ends and pink-colored, normal healthy plates at their proximal bases. Numerous pseudohyphae and spores were demonstrated by KOH microscopic examination. Candida albicans was identified by culture on Sabourauds glucose agar and API 20C Aux system. Histopathologic findings of nail crippings also showed mutiple hyphae beneath the hyperkeratot,ic nail plate on PAS stain. Shedding of the infected distal portion of the ungual plates ws caused by growing out of the healthy nails, resulting in spontaneous healing of the disease rithin 2 months.
Agar ; Candida albicans ; Candidiasis* ; Female ; Glucose ; Humans ; Hyphae ; Spores