PURPOSE: The purpose of this study was to analyze the concept seogueulpeum, in order to give a operational definition of middle-aged women's seogueulpeum. METHODS: Walker and Avant's methods for concept analysis was used. RESULTS: The defining attributes of seogueulpeum identified in this study were 1) time, 2) negativity, 3) vagueness, 4) passivity, 5) individuality. The antecedents of seogueulpeum were 1) a problematic condition, 2) past event, experiences for the problematic condition, and 3) interaction between the problematic condition and past event, experiences. The consequences of seogueulpeum included 1) to get worse for the problematic condition, 2) passive or active management for the problematic condition. CONCLUSION: Although further studies are required to refine the diverse attributes of the concept of seogueulpeum, according to this concept analysis of seogueulpeum, this study contribute to explain psychological health of middle-aged women. In addition to develop the adequate interventions decreasing seogueulpeum with aging in women is needed.
Aging ; Female ; Humans ; Individuality

PURPOSE: This study was done to identify effects of fatigue and postpartum depression on quality of life in early postpartum mothers. METHODS: The data were collected from 130 mothers at four general hospitals in J and M metropolitan cities. Instruments used to collect the data for the study were the Fatigue Scale developed by Pugh (1993); Postpartum Depression Scale developed by Cox, Holden & Sagovsky (1987), and the Quality of Life Scale developed by Hill, Aldag, Hekel, Riner, G., & Bloomfield (2006). RESULTS: Results showed that the mean for fatigue was 56.74, the mean for postpartum depression was 8.00+/-4.37 and mean for quality of life was 19.78. The quality of life variable showed statistically significant differences for the variable: age (F=3.20, p=.026). The relationship between fatigue and quality of life showed a significant negative correlation (r=-.44, p<.001). The relationship between postpartum depression and quality of life also showed a negative correlation (r=-.42, p<.001). The relationship between postpartum depression and fatigue showed a positive correlation (r=.59, p<.001). These factors explained 23% of the variance in quality of life. CONCLUSION: The results indicate that it is necessary to develop nursing intervention programs to improve quality of life in for early postpartum mothers.
Depression, Postpartum ; Fatigue ; Female ; Hospitals, General ; Humans ; Mothers ; Parity ; Postpartum Period ; Quality of Life

OBJECTIVE: To assess the pre-pregnancy and pregnancy factors influencing pregnancy outcome in renal transplanted women Materials and METHODS: This retrospective study included all pregnancies in renal transplanted women in Asan Medical Center between June 1996 and February 1998. We collected data from the medical records of allograft recipients. Pre-pregnant status and pregnancy outcome were described. RESULTS: Seventeen pregnancies in 13 allograft recipients resulted in 7 term deliveries, 4 preterm births, 2 spontaneous abortions, and 4 therapeutic abortions. All but one patient received immunosuppressive therapy with cyclosporin A, azathioprine, and prednisolone during pregnancy. The mean interval from the time of transplantation to conception was 28.8+/-14.3 months(range 6-60 months). In live birth group, the mean gestational age at delivery was 37.7+/-1.2 weeks and the mean birth weight of their offspring was 2.85+/-0.37 kilogram. Apgar scores at 5 minutes were 8 or more in all of them. The obstetric complications were distributed as follows: pregnancy induced hypertension in 6 cases(55%), pregnancy aggravated hypertension in 2 cases(18%), fetal growth restriction in 1 case(9%), prematurity in 4 cases(36%). Cesarean sections were done in 4 cases(36%) because of previous Cesarean section(3 cases) and uncontrolled hypertension(1 case). Neonatal complication, transient tachypnea of the newborn, was found in one case. Graft rejection after transplantation occurred in 4 cases: 3 cases in preterm births and 1 case in therapeutic abortions. Maternal renal functions were normal during pregnancy and postpartum period whose pre-pregnant renal functions had been normal. No patient experienced any rejection episode or graft loss during pregnancy. CONCLUSION: Successful pregnancy can be expected in women with a renal transplant, although there was high incidence of pregnancy-related complications, especially hypertensive disorders. Pregnancy can be encouraged to these allograft recipients if they have good renal function.
Abortion, Spontaneous ; Abortion, Therapeutic ; Allografts* ; Azathioprine ; Birth Weight ; Cesarean Section ; Chungcheongnam-do ; Cyclosporine ; Female ; Fertilization ; Fetal Development ; Gestational Age ; Graft Rejection ; Humans ; Hypertension ; Hypertension, Pregnancy-Induced ; Incidence ; Kidney Transplantation ; Live Birth ; Medical Records ; Postpartum Period ; Prednisolone ; Pregnancy ; Pregnancy Outcome* ; Pregnancy* ; Premature Birth ; Retrospective Studies ; Transient Tachypnea of the Newborn ; Transplants

Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5) gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized by brachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variability of the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics of this condition in the Korean population.
Brachydactyly* ; Extremities ; Mutation, Missense

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.
Diagnosis ; Epilepsy ; Family Planning Services ; Follow-Up Studies ; Heparitin Sulfate ; Humans ; Intellectual Disability ; Lysosomal Storage Diseases ; Mucopolysaccharidoses* ; Mucopolysaccharidosis III* ; Pneumonia

PURPOSE: This study was done to identify fat distribution and blood pressure according to anthropometric change patterns between NIDDM patients and control subjects. METHODS: Cross-sectionally 167 NIDDM patients and 87 controls were studied. Previous maximal body weight and acute weight loss was obtained. Current height, body weight, BMI, waist-hip ratio(WHR), skinfold thicknesses(abdomen, subscapular and triceps), and blood pressure was measured. Three anthropometric change patterns were categorized by BMI changes from the maximum lifetim's BMI to the current time (obese-obese, obese-nonobese and nonobese-nonobese: obese: BMI > or =25 kg/m2, nonobese: BMI<25 kg/m2). The data was analyzed by chi-square, t-test, age adjusted ANCOVA and Least Squares Means(LSM) for multiple comparison. RESULT: Acute body weight loss(p=0.01), anthropometric change types (p=0.001), WHR (P=0.05), and skinfold thickness (p=0.002) of NIDDM were significantly higher than those of the controls. The mean arterial pressure, WHR and skinfold thicknesses were greater in both obese-obese and obese-nonobese NIDDM and control subjects compared with both nonobese-nonobese NIDDM and control subjects. (all p's<0.05). CONCLUSION: NIDDM patients had more central and upper body adiposicity. Also both obese-obese and obese-nonobese NIDDM and control subjects had higher mean arterial pressures and central body obesity.
Adult ; Anthropometry ; *Blood Pressure ; *Body Fat Distribution ; Body Mass Index ; Cross-Sectional Studies ; Diabetes Mellitus, Type 2/*diagnosis/epidemiology ; Female ; Humans ; Korea ; Male ; Middle Aged ; Multivariate Analysis ; Obesity ; Waist-Hip Ratio

Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~95%) are caused by mutations in the CYP21A2 gene, which encodes steroid 21-hydroxylase. CAH patients manifest a wide phenotypic spectrum according to their degree of residual enzyme activity. CYP21A2 and its pseudogene (CYP21A1P) are located 30 kb apart in the 6q21.3 region and share approximately 98% of their sequences in the coding region. Both genes are aligned in tandem with the C4, SKT19, and TNX genes, forming 2 segments of the RCCX modules that are arranged as STK19-C4A-CYP21A1P-TNXA-STK19B-C4B-CYP21A2-TNXB. The high sequence homology between the active gene and pseudogene leads to frequent microconversions and large rearrangements through intergenic recombination. The TNXB gene encodes an extracellular matrix glycoprotein, tenascin-X (TNX), and defects in TNXB cause Ehlers-Danlos syndrome. Deletions affecting both CYP21A2 and TNXB result in a contiguous gene deletion syndrome known as CAH-X syndrome. Because of the high homology between CYP21A2 and CYP21A1P, genetic testing for CAH should include an evaluation of copy number variations, as well as Sanger sequencing. Although it poses challenges for genetic testing, a large number of mutations and their associated phenotypes have been identified, which has helped to establish genotype-phenotype correlations. The genotype is helpful for guiding early treatment, predicting the clinical phenotype and prognosis, and providing genetic counseling. In particular, it can help ensure proper management of the potential complications of CAH-X syndrome, such as musculoskeletal and cardiac defects. This review focuses on the molecular pathophysiology and genetic diagnosis of 21-hydroxylase deficiency and highlights genetic testing strategies for CAH-X syndrome.

Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at risk. Methods: This study included 27 pregnant women who had previously borne a child with 21-OHD. Fetal tissues were obtained using chorionic villus sampling (CVS) or amniocentesis. After the genomic DNA was isolated, Sanger sequencing of CYP21A2 and multiplex ligation-dependent probe amplification were performed. The clinical and endocrinological findings were reviewed retrospectively. Results: A total of 39 prenatal genetic tests was performed on 27 pregnant women and their fetal tissues. The mean gestational age at the time of testing was 11.7 weeks for CVS and 17.5 weeks for amniocentesis. Eleven fetuses (28.2%) were diagnosed with 21-OHD. Among them, 10 fetuses (90.9%) harbored the same mutation as siblings who were previously diagnosed with 21-OHD. Among these, 4 fetuses (3 males and 1 female) identified as affected were born alive. All 4 patients have been treated with hydrocortisone, 9α-fludrocortisone, and sodium chloride since a mean of 3.7 days of life. The male patients did not show hyponatremia and dehydration, although they harbored pathogenic variants associated with the salt-wasting type of 21-OHD. Conclusion This study demonstrated the diagnostic efficacy and clinical consequences of diagnosis by prenatal genetic testing in families at risk for 21-OHD. All patients identified as affected were treated with hydrocortisone and 9α-fludrocortisone early after birth, which can prevent a life-threatening adrenal crisis.

PURPOSE: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified as Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). This study was undertaken to investigate the clinical, endocrinological, and molecular characteristics in Korean patients with KS and nIHH. METHODS: Twenty-six patients from 25 unrelated families were included. Their clinical, endocrinological, and radiological findings were analyzed retrospectively. Mutation analysis of the GNRH1, GNRHR, KISS1, KISS1R, PROK2, PROKR2, TAC3, TACR3, FGF8, FGFR1, and KAL1 genes was performed in all patients. CHD7 and SOX10 were analyzed in patients with CHARGE (Coloboma, Heart defects, choanae Atresia, Growth retardation, Genitourinary abnormality, Ear abnormality) features or deafness. RESULTS: Of the 26 patients, 16 had KS and 10 had nIHH. At diagnosis, mean chronologic age was 18.1 years in males and 18.0 years in females; height SDS were -0.67+/-1.35 in males, -1.12+/-1.86 in females; testis volume was 2.0+/-1.3 mL; and Tanner stage was 1.5. There were associated anomalies in some of the KS patients: hearing loss (n=6) and congenital heart disease (n=4). Absence or hypoplasia of the olfactory bulb/sulci was found in 84.62% of patients with KS. Molecular defects in KAL1, SOX10, and CHD7 were identified in 5 patients from 4 families (16.0%, 4/25 pedigrees). After sex hormone replacement therapy, there were improvement in sexual characteristics and the sexual function. CONCLUSION: This study described the clinical, endocrinological, and molecular genetic features in IGD patients in Korea. Although the mutation screening was performed in 10 genes that cause IGD, molecular defects were identified in relatively small proportions of the cohort.
Cohort Studies ; Deafness ; Diagnosis ; Ear ; Female ; Gonadotropin-Releasing Hormone ; Hearing Loss ; Heart ; Heart Defects, Congenital ; Hormone Replacement Therapy ; Humans ; Hypogonadism* ; Immunoglobulin D ; Kallmann Syndrome* ; Korea ; Male ; Mass Screening ; Molecular Biology ; Nasopharynx ; Olfaction Disorders ; Retrospective Studies ; Testis ; Urogenital Abnormalities