Isolated ACTH deficiency is a rare cause of secondary adrenocortical insufficiency. The clinical presentation can be similar to that of primary adrenal insufficiency, but most of them may be nonspecific. A female patient of 25 months of age, complainig short stature, showed hypocortisolemia without ACTH & cortisol stimulation by insulin-induced hypoglycemia test. All the other hormone state was normal. Left hand AP view revealed delayed bone age(3 month) compared with chronological age. No radiologic abnormality was found in sella MRI and adrenal CT. Here we report a case of isolated ACTH deficiency presented by short stature.
Addison Disease ; Adrenocorticotropic Hormone ; Female ; Hand ; Humans ; Hydrocortisone ; Hypoglycemia ; Magnetic Resonance Imaging

PURPOSE: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. MATERIALS AND METHODS: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTL- and RBG-banding techniques. RESULTS: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion. CONCLUSION: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.
Amniocentesis ; Chorionic Villi Sampling ; Cytogenetics ; Female ; Fetus ; Follow-Up Studies ; Genetic Counseling ; Hospitals, General ; Humans ; Lost to Follow-Up ; Parents ; Parturition ; Pregnancy ; Prenatal Diagnosis*

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.
Amniocentesis ; Female ; Fetus ; Grandparents ; Heterochromatin* ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Maternal Age ; Mothers ; Nuclear Family ; Phenotype ; Pregnancy ; Prenatal Diagnosis* ; Sequence Tagged Sites ; Y Chromosome*

No Abstract available.
Infection Control*

BACKGROUND: Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disease of an unknown etiology, and this is characterized by spiking fever, evanescent rash, arthritis and multiorgan involvement. OBJECTIVE: This study was conducted to better understand the clinical characteristics of patients with AOSD, and especially the cutaneous features. METHODS: We reviewed the medical records and cutaneous findings of 21 patients who were diagnosed with AOSD at our hospital from 2003 to 2009. The diagnosis of AOSD was based on the criteria proposed by Yamaguchi et al. RESULTS: Eighteen (86%) out of the 21 patients were women, and the age of onset ranged from 18 to 55 years. Fever occurred in 21 (100%) patients, skin rash in 20 (95%), arthralgia in 18 (86%), sore throat in 10 (48%) and lymphadenopathy in 7 (33%). The cutaneous features were as follows: typical maculopapular eruption (70%), urticaria (10%), petechia and purpura (10%), persistent plaques and linear pigmentation (5%) and acne-like lesions (5%). The most common sites of skin lesion were the trunk (80%) and thighs (80%). The histopathologic findings of 9 patients showed non-specific chronic inflammation with a perivascular mononuclear preponderance in 6 patients, and the others were consistent with urticaria or leukocytoclastic vasculitis. CONCLUSION: The various cutaneous features of this study suggest that dermatologists should consider AOSD in any patient with cutaneous eruption associated with fever and arthralgia.
Adult ; Age of Onset ; Arthralgia ; Arthritis ; Exanthema ; Female ; Fever ; Humans ; Inflammation ; Lymphatic Diseases ; Medical Records ; Pharyngitis ; Pigmentation ; Purpura ; Skin ; Still's Disease, Adult-Onset ; Thigh ; Urticaria ; Vasculitis ; Vasculitis, Leukocytoclastic, Cutaneous

PURPOSE: To evaluate the accuracy of the chosen formula in short eyes and the effect of the anterior chamber depth (ACD) and corneal refractive power on the accuracy. METHODS: A total of 251 eyes out of 185 patients (axial length below 22.0 mm) who underwent cataract surgery in our hospital were retrospectively studied. Introcular lens (IOL) power was calculated with the Hoffer Q, SRK II, SRK-T and Holladay 1 formulas and refractive outcome was measured. Patients were divided into 2 groups based on ACD. The accuracy of the 4 formulas was compared and the errors according to the ACD were also evaluated. RESULTS: In eyes with short axial lengths, all formulas showed a tendency for hyperopic shifts. The Hoffer Q formula showed significantly high predictive accuracy. This tendency for hyperopic shifts was similar in the eyes with extremely short axial length, but a large refractive error deviation was observed. The 2 groups based on ACD showed no significant difference in the refractive error, but the group with deep ACD had a tendency for hyperopic shifts. The difference of the calculated IOL power between the 4 formulas was more pronounced in eyes with lower corneal refractive power. CONCLUSIONS: In eyes with short axial lengths, preoperative ACD and corneal refractive power had an influence on the accuracies of predicted IOL power. Therefore, these factors should be considered in IOL power determination.
Anterior Chamber* ; Cataract ; Humans ; Refractive Errors ; Retrospective Studies

PURPOSE: To investigate the efficacy of botulinum toxin type A chemodenervation in various types of esotropia(ET). METHODS: Enrolled eleven esotropic patients treated with botulinum toxin type A and examined the amount of esotropic correction and success rate of less than 10 PD (prism diopter) of postinjection deviation at 5 months after injection. RESULTS: Among the eleven esotropic patients, there were 7 cases of infantile ET, 2 cases of partially accommodative ET and 2 cases of basic ET. The mean preinjection deviation was 30.5 +/- 7.3 PD. The amount of correction was 17.7 +/- 4.3 PD and correction rate of deviation was 57.5%. In 6 of 11 cases, the postinjection deviation was within 10 PD and therefore success rate was 54.5%. In 5 patients (45.5%), their ET was undercorrected. In patients with under 20 PD of preinjection deviation, success rate was 75% (3/4) and those with over 20PD, the rate was 42.9% (3/7). In partially accommodative ET, 2 (100%) of 2 cases were aligned within 10PD. CONCLUSIONS: In comitant ET, botulinum toxin chemodenervation shows high undercorrection rate. The effects of botulinum toxin type A chemodenervation were better for relatively small angle and in partially accommodative ET than nonaccommodative one. But further study with more cases is needed.
Botulinum Toxins* ; Botulinum Toxins, Type A* ; Esotropia* ; Humans ; Nerve Block

PURPOSE: The aim of this study was to analyze the results and contributing factors of catch-up growth in very low birth weight infants(VLBWI) at the corrected age of 2 years. In addition, we looked for a relationship between the catch-up growth and the development by the bayley scales of infant development II(BSID II). METHODS: A retrospective analysis by evaluating medical records was done for the 76 VLBWI whose follow-up was possible up to a corrected age of 2 years, out of the 114 who had been treated in the neonatal intensive care unit during the January of 2000 to December of 2001 at Samsung Cheil Hospital. Based on the Standard Korean Infant's Growth Curve, the catch-up growth group was defined over the 10th percentile of weight at 2 years as the corrected age and the failed catch-up growth group was defined under the 10th percentile. We investigated the clinical factors and courses of each group and compared the scores of the BSID II. RESULTS: The catch-up growth group of the VLBWI was 51 infants and the failed catch-up growth group was 25 infants. In comparison with maternal clinical factors, use of antenatal steroids was significantly higher in the catch-up growth group. In comparisn with clinical factors and courses of VLBWI, two clinical factors were significantly different between the two groups: birth weight and intrauterine growth retardation(IUGR). Numbers of delayed development were increased in the failed catch-up growth group but statistically significant differences could not be observed. CONCLUSION: The catch-up growth of the VLBWI was affected by the use of antenatal steroids, birth weight and IUGR. No significant differences regarding neurodevelopmental outcome were observed between the catch-up and failed catch-up growth groups.
Birth Weight ; Child ; Child Development ; Fetal Growth Retardation ; Follow-Up Studies ; Growth and Development* ; Humans ; Infant* ; Infant, Newborn ; Infant, Very Low Birth Weight* ; Intensive Care, Neonatal ; Medical Records ; Retrospective Studies ; Steroids ; Weights and Measures

OBJECTIVE: This study investigated the association between social relations, activities of daily living, cognitive functions and depressive symptoms among the Korean elderly. METHODS: Study subjects were 10,260 elderly participated in 2014 Korean National Survey on Older Adults. General characteristics, social relations, activities of daily living, cognitive functions and depressive symptoms were collected by face-to-face interview. Descriptive analyses, chi-square tests and multiple logistic regression analysis were performed using SAS 9.4 statistical program. RESULTS: Total 33.0% of elderly had depressive symptoms. The odds ratios (OR) for depressive symptoms were significantly higher in elderly without housemate [OR=1.30, 95% confidence interval (CI)=1.11-1.53], without contact of living children (OR=1.76, 95% CI=1.03-2.99), lower social activity (OR=2.00, 95% CI=1.71-2.35) and without contact of friends (OR=1.47, 95% CI=1.30-1.67). And impaired activity of daily living (ADL) (ADL : OR=1.61, 95% CI=1.18-2.20, instrumental activities of daily living : OR=1.68, 95% CI=1.36-2.06) and cognitive impairment (OR=1.21, 95% CI=1.07-1.38) were also associated the risk of depressive symptoms. CONCLUSION: Social support for elderly who lack social relationships and services to improve the daily life of elderly with impaired activities are helpful to decrease depressive symptoms. And it is necessary to investigate and manage the depressive symptoms of elderly with impaired cognitive function.
Activities of Daily Living* ; Adult* ; Aged* ; Child ; Cognition Disorders ; Cognition* ; Depression* ; Friends ; Health Surveys ; Humans ; Interpersonal Relations ; Logistic Models ; Odds Ratio ; Sociological Factors

Multiple sclerosis (MS) is an immune-mediated, inflammatory demyelinating disease of the central nervous system. The coexistence of multiple sclerosis and rheumatoid arthritis is very rare. This rare association is interesting due to the overlapping pathophysiological similarities of T-cells and tumor necrosis factor-alpha (TNF-alpha) in both diseases. We report a case of a Korean 10 year old girl with multiple sclerosis, who after 3 years developed a clinical and serological manifestation of juvenile rheumatoid arthritis.
Arthritis, Juvenile Rheumatoid ; Arthritis, Rheumatoid ; Central Nervous System ; Demyelinating Diseases ; Humans ; Multiple Sclerosis ; Sclerosis ; T-Lymphocytes ; Tumor Necrosis Factor-alpha