A statistical analysis of the diagnostic value for 244 aspiration biopsy cytology(ABC) among a total 1,043 cases from various sites was performed. ABC, using diagnostic terminology similar to that of a surgical pathology reports, was compared to the final tissue diagnosis. For the entire series, a sensitivity of 91.8%, a specificity of 99.3%, a positive predictive value of 98.9%, a negative predictive value of 94.8%, and an efficacy of the test of 96.3% were shown. There were 8 false negative and 1 false positive diagnosis. The diagnostic accuracy was 89.8%. Those results indicate that the ABC is a considerably highly accurate procedure that should be routinely employed.
Biopsy, Needle ; Child* ; Diagnosis ; Glomerulonephritis, IGA* ; Humans ; Immunoglobulin A* ; Intranuclear Inclusion Bodies ; Meningioma ; Pathology, Surgical ; Sensitivity and Specificity

We herein report three cases of pararneatal urethral cyst, which developed on the male urethral meatus. These cysts occurred since birth or childhood, and did not interfere with urinary of sexual function. Histologically, these cysts were lined by pseudostratified columnar epithelium with variable thickness. No recurrence was evident after simple excision.
Epithelium ; Humans ; Male ; Parturition ; Recurrence

The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case of P450scc deficiency due to a novel homozygous CYP11A1 variant inherited from the mother with a possibility of uniparental disomy (UPD). The patient was a female, had no family history of endocrine disease, and showed adrenal insufficiency at 13 days of age. Hormonal analysis with an adrenocorticotropic hormone stimulation test showed both glucocorticoid and mineralocorticoid deficiencies, presumed to be a defect of the early stage of steroidogenesis. Exome sequencing reported a novel homozygous frameshift variant of CYP11A1 (c.284_285del, p.Asn95Serfs*10), which was inherited from the mother.Additionally, homozygosity in 15q22.31q26.2, which included CYP11A1, was identified using a chromosomal microarray. It was suggested that the possibility of maternal UPD was involved as the cause of a P450scc deficiency by unmasking the maternally derived affected allele. To our understanding, P450scc deficiency associated with UPD encompassing CYP11A1 had not been reported in Korea before. Genetic analysis can help diagnose rare causes of primary adrenal insufficiency, including P450scc deficiency.

Congenital melanocytic nevus is a hamartoma derived from the neural crest that is present at birth. Regression following surgical excision with an apparent halo phenomenon through suture lines has never been reported. A nine-year-old boy presented with a solitary symmetric, oval-shaped, blackish pigmented patch on his right forearm.He reported increasing size of the lesion with no other subjective symptoms. Histological examination of the first excisional biopsy revealed congenital melanocytic nevus, and serial excisions were planned. Interestingly, at the second visit at 18 months after the first biopsy, the size of the congenital melanocytic nevus was reduced with a peripheral whitish halo. Linear regression through suture lines and a peripheral halo was observed after the second and third serial excisions. The mechanism of the halo phenomenon remains elusive but is suggested theorized to be caused by destruction of melanocytes by immune responses of autoantibodies or cytotoxic T cells.

Congenital melanocytic nevus is a hamartoma derived from the neural crest that is present at birth. Regression following surgical excision with an apparent halo phenomenon through suture lines has never been reported. A nine-year-old boy presented with a solitary symmetric, oval-shaped, blackish pigmented patch on his right forearm.He reported increasing size of the lesion with no other subjective symptoms. Histological examination of the first excisional biopsy revealed congenital melanocytic nevus, and serial excisions were planned. Interestingly, at the second visit at 18 months after the first biopsy, the size of the congenital melanocytic nevus was reduced with a peripheral whitish halo. Linear regression through suture lines and a peripheral halo was observed after the second and third serial excisions. The mechanism of the halo phenomenon remains elusive but is suggested theorized to be caused by destruction of melanocytes by immune responses of autoantibodies or cytotoxic T cells.

PURPOSE: To evaluate the clinical results of resection of os subfibulare and lateral ligament reattachment or modified Brostrom procedure in patients with symptomatic os subfibulare. MATERIALS AND METHODS: This is a retrospective study on fourteen patients (14 ankles) who have symptoms associated with os subfibulare. Between August 1999 and July 2004, they underwent 4 resection of os subfibulare and lateral ligament reattachment for ankle pain due to os subfibulare or 10 resection of os subfibulare and modified Brostrom procedure available for ankle instability due to os subfibulare. Follow-up period is averaged for 17.6 months (12-24 months). Clinical results were graded according to the AOFAS clinical rating system. RESULTS: Clinical results were rated as good in 4 ankles after resection of os subfibulare and lateral ligament reattachment, excellent in 5, good in 4, and fair in 1 ankle after the resection of os subfibulare and modified Brostrom procedure. In the last follow up period, 1 case of anterolateral ankle instability, 1 case of ankle pain and 1 case of inversion limitation were present postoperatively, but all symptoms were improved progressively. CONCLUSION: Resection of os subfibulare and modified Brostrom procedure is a good surgical technique for chronic ankle instability due to os subfibulare. But if just the ankle pain is present, resection of os subfibulare and lateral ligament reattachment is a sufficient procedure.
Ankle ; Collateral Ligaments ; Follow-Up Studies ; Humans ; Retrospective Studies

OBJECTIVES: To determine if hysterectomy with or without ovarian preservation is asso-ciated with obesity in premenopausal women. METHODS: 581 women for routine check up from Jan. 1985 to Dec. 1995 in the depart-m ent of Gynecology at Korea Veterans Hospital were included. The obesity was evaluated by BMI(body mass index) scores. 80% of hysterectomy were confirmed from the hospital records. The age, weight, height, blood pressure, menstr- ual history, history of DM and hypertension, social history of alcohol and smoking and other cardiovascular risk factors such as cholesterol, HDL-cholesterol, triglycerides were checked. The 248 women with natural postmenopausal status before hysterectomy, taking hormonal replacement therapy after hysterectomy and having performed hysterectomy due to malign- ancy were excluded. RESULTS: All women performed hysterectomy were in premenopausal status in this study. Therefore, the final numbers of subjects included in the analysis was 333. Hysterectomy wit- hout ovarian preservation were performed in 58 cases and hysterectomy with ovarian pres- ervation were in 57 cases. The 218 premenopausal cases which did not performed hystere- ctomy were considered control group. BMI scores were higher in cases without ovarian pres- ervation than with ovarian preservation. And BMI score was associated with the postoper- ative duration in hysterectomy with ovarian preservation. CONCLUSIONS: We suggest that hysterectomy without ovarian preservation in premeno- paussal women were associated with increased obesity, especially BMI scores.
Blood Pressure ; Cholesterol ; Female ; Gynecology ; Hospital Records ; Hospitals, Veterans ; Humans ; Hypertension ; Hysterectomy* ; Korea ; Obesity* ; Risk Factors ; Smoke ; Smoking ; Triglycerides

Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes. Among these, fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia is a relatively common subgroup of skeletal dysplasia. Pediatric endocrinologists may encounter a suspected case of skeletal dysplasia in their practice, especially when evaluating children with short stature. Early and accurate diagnosis of FGFR3-related skeletal dysplasia is essential for timely management of complications and genetic counseling. This review summarizes 5 representative and distinct entities of skeletal dysplasia caused by pathogenic variants in FGFR3 and discusses emerging therapies for FGFR3-related skeletal dysplasias.

Background: Preterm birth is associated with increased infant mortality. However, it is not clear whether prematurity is associated with mortality after 1 year of age. There is a lack of research on mortality rate and causes of death after infancy in preterm babies in Korea. We aimed to analyze the mortality rates and causes of deaths up to 5 years of age in Korea. Methods: Using the Microdata Integrated Service of Statistics Korea database, this retrospective cohort study screened infants born between 2010 and 2012. After applying the exclusion criteria, 1,422,913 live births were classified into the following groups by gestational age: those born at < 32 weeks' gestation (n = 10,411), those born between 32 and 36 weeks' gestation (n = 75,657), and those born at ≥ 37 weeks' gestation (n = 1,336,845). The association of gestational age with mortality in infancy (< 1 year of age) and childhood (1–5 years of age) was analyzed, with and without covariates. The major causes of death in infancy and childhood were analyzed by gestational age. Results: Overall, 4,930 (0.3%) children died between birth and 5 years of age, with 19.1% of these deaths occurring after infancy. Adjusted hazard ratios (HRs) for infant death were 78.79 (95% confidence interval [CI], 71.33–87.04) and 4.62 (95% CI, 4.07–5.24) for the < 32 and 32–36 weeks groups, respectively, compared to the full-term group; the adjusted HRs for deaths occurring at ages 1–5 years were 9.25 (95% CI, 6.85–12.50) and 2.42 (95% CI, 1.95–3.01), respectively. In infancy, conditions originating in the perinatal period were the most common cause of deaths in the < 32 and 32–36 weeks groups (88.7% and 41.9%, respectively). Contrarily, in the ≥ 37 weeks group, conditions originating in the perinatal period explained 22.7% of infant deaths, with congenital malformations primarily accounting for 29.6% of these deaths. The most common cause of death in children (after infancy) in the < 32 weeks group was perinatal causes (25.0%); in the 32–36 weeks group, congenital malformation and nervous system disease were the common causes (21.7% and 19.1%, respectively). In the ≥ 37 weeks group, injury, poisoning, and other consequences of external causes explained 26.6% of childhood deaths, followed by neoplasms and nervous system disease (15.7% and 14.7%, respectively). Conclusion Low gestational age is associated with not only infant mortality but also child mortality. The major causes of death differed by gestational age in infancy and childhood.For the care of preterm infants, especially those born at < 32 weeks' gestation, particular attention and continuous monitoring are needed in consideration of the major causes of deaths until 5 years of age.