Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial aggregates, prenatal diagnosis is an important role in the management of DMD family. We present our experience of prenatal molecular diagnosis and carrier detection based on multiplex polymerase chain reaction (PCR), multiplex ligation-dependent probe amplification (MLPA), and linkage analysis. Materials and Methods: During study period, 34 cases of prenatal diagnosis and 21 cases of carrier detection were performed at the Seoul National University Hospital. Multiplex PCR and MLPA was used to detect the exon deletions or duplications. When the DMD pathogenic variant in the affected males is unknown and no DMD pathogenic variant is detected in atrisk females, linkage analysis was used. Results: The prenatal molecular diagnosis was offered to 34 fetuses. Twenty-five fetuses were male and 6 fetuses (24.0%) were affected. Remaining cases had no pathogenic mutation. We had 24 (80.0%) cases of known proband results; exon deletion mutation in 19 (79.2%) cases and duplication in 5 (20.8%) cases. Linkage analysis was performed in 4 cases in which 2 cases (50.0%) were found to be affected. In the carrier testing, among 21 cases including 15 cases of mother and 6 cases of female relative, 9 (42.9%) cases showed positive results and 12 (57.1%) cases showed negative results. Conclusion Prenatal molecular diagnosis and carrier detection of DMD are effective and feasible. They are useful in genetic counseling for DMD families.

With highly active antiretroviral therapy, human immunodeficiency virus (HIV) infection is considered to be a manageable chronic disease. The improved prognosis increases the desire of individuals with HIV to have biological offspring. With the establishment of washing protocol, no HIV transmission has been reported among more than 11,000 assisted reproduction technology (ART) cycles. Although the Acquired Immunodeficiency Syndrome Prevention Act in Korea prevents the use of HIV-infected blood, organs, tissues and semen, we recently obtained the authentic approval from the Korea Centers for Disease Control and Prevention for the practice of ART in HIV-serodiscordant couples. We report a 32-year-old HIV-seronegative female with her husband who was HIV-1 seropositive. After semen washing was performed by means of a density gradient and the swim-up technique, HIV-1 ribonucleic acid was not detected in the semen. An aliquot of processed semen was cryopreserved before ART. None of 3 cycles of intrauterine insemination was successful. After the third frozen-thawed embryo transfer following two cycles of intracytoplasmic sperm injection, an intrauterine singleton pregnancy was identified. She gave birth to a normal healthy male baby at full term by Cesarean section. She and her baby were tested for HIV during pregnancy and after delivery and the results were negative. Semen washing may be a safe ART method for HIV-serodiscordant couples who desire to have a baby in Korea.

OBJECTIVES: There is a great deal of interest in the possibility that environmental factors may influence the risk of developing allergic rhinitis (AR) in early life. We investigated the simultaneous effects of mode of delivery and duration of breastfeeding on the development of AR in children. METHODS: Data from 1,374 children participating in the Allergic Rhinitis Cohort Study for kids (ARCO-kids study) was analyzed. All subjects were divided into AR or non-allergic rhinitis (NAR) groups. Data on environmental factors, mode of delivery and duration of breastfeeding were collected using a questionnaire. RESULTS: Compared with short-term breastfeeding (<6 months), long-term breastfeeding (≥12 months) was significantly associated with a lower prevalence of AR (adjusted odds ratio [aOR], 0.54; 95% confidence interval [CI], 0.34 to 0.88). Children in the AR group also had a higher cesarean delivery rate than those in the NAR group (39.1% vs. 32.8%, P=0.05). Regarding the combined effects of mode of delivery and duration of breastfeeding, long-term breastfeeding with a vaginal delivery strongly suppressed the development of AR, compared to short-term breastfeeding with a cesarean delivery (aOR, 0.47; 95% CI, 0.30 to 0.73). CONCLUSION: Long-term breastfeeding (≥12 months) and a vaginal delivery are associated with a lower risk of developing childhood AR.
Breast Feeding ; Cesarean Section ; Child ; Cohort Studies ; Delivery, Obstetric ; Female ; Humans ; Odds Ratio ; Pregnancy ; Prevalence ; Rhinitis ; Rhinitis, Allergic

We aimed to evaluate the current nationwide trend, efficacy, safety, and quality of life (QoL) profiles of hormone treatment in real-world practice settings for prostate cancer (PCa) patients in Korea. A total of 292 men with any biopsy-proven PCa (TanyNanyMany) from 12 institutions in Korea were included in this multi-institutional, observational study of prospectively collected data. All luteinizing hormone-releasing hormone (LHRH) agonists were allowed to be investigational drugs. Efficacy was defined as (1) the rate of castration (serum testosterone ≤50 ng dl<sup>-1sup>) at 4-week visit and (2) breakthrough (serum testosterone >50 ng dl<sup>-1sup> after castration). Safety assessments included routine examinations for potential adverse events, laboratory tests, blood pressure, body weight, and bone mineral density (BMD, at baseline and at the last follow-up visit). QoL was assessed using the Expanded Prostate Cancer Index Composite-26 (EPIC-26). The most common initial therapeutic regimen was LHRH agonist with anti-androgen (78.0%), and the most commonly used LHRH agonist for combination and monotherapy was leuprolide (64.0% for combination and 58.0% for monotherapy). The castration and breakthrough rates were 78.4% and 6.6%, respectively. The laboratory results related to dyslipidemia worsened after 4 weeks of hormone treatment. In addition, the mean BMD T-score was significantly lower at the last follow-up (mean: -1.950) compared to baseline (mean: -0.195). The mean total EPIC-26 score decreased from 84.8 (standard deviation [s.d.]: 12.2) to 78.3 (s.d.: 8.1), with significant deterioration only in the urinary domain (mean: 23.5 at baseline and 21.9 at the 4-week visit). These findings demonstrate the nationwide trend of current practice settings in hormone treatment for PCa in Korea.
Aged ; Androgen Antagonists/therapeutic use* ; Antineoplastic Agents, Hormonal/therapeutic use* ; Cholesterol/blood* ; Drug Therapy, Combination ; Humans ; Leuprolide/therapeutic use* ; Male ; Middle Aged ; Prostatic Neoplasms/pathology* ; Quality of Life ; Receptors, LHRH/agonists* ; Republic of Korea ; Testosterone/blood* ; Treatment Outcome ; Triglycerides/blood*

BACKGROUND: Basal cell carcinoma is the most common form of skin cancer. Surgical excision is commonly used as the therapeutic modality. However, there is insufficient data on the prognosis of Korean patients who have undergone surgical excision for basal cell carcinoma. OBJECTIVE: We therefore retrospectively analyzed the effectiveness of surgical excision in patients with basal cell carcinoma and compared it with previous studies. METHODS: From 2009 to 2015, we enrolled 138 patients with primary basal cell carcinoma who underwent surgical excision and analyzed the recurrence rate, clinical features, surgical procedures, and histopathological subtypes. RESULTS: The case series comprised 138 patients (M:F=1:1.51) with a mean age of 68.7 years. Recurrence after surgical excision was diagnosed in 0 of the 138 patients with a mean follow-up period of 47.5 months (12~93 months). The mean tumor diameter and surgical margin were 0.9 cm and 3.1 mm, respectively. Most tumors (85.5%) were of the nodular subtype. Primary closure was used most often to repair the surgical defects (44.9%). CONCLUSION: Surgical excision may be a satisfactory method for the treatment of primary basal cell carcinomas, especially in non-high-risk cases.
Carcinoma, Basal Cell* ; Follow-Up Studies ; Humans ; Methods ; Prognosis ; Recurrence* ; Retrospective Studies ; Skin Neoplasms

BACKGROUND/AIMS: In spite of increased concerns about the overlaps among the various functional gastrointestinal disorders (FGIDs), studies for the overlap between constipation and other common FGIDs are rare. Therefore, we investigated the patterns of overlaps between constipation and other common FGIDs. METHODS: This study was designed as a prospective nationwide multi-center questionnaire study using Rome III questionnaires for functional dyspepsia (FD), irritable bowel syndrome (IBS), and functional constipation (FC), as well as various questionnaires about patients’ information, degree of symptoms, and quality of life. For the evaluation of gastroesophageal reflux disease (GERD), GERD-Q was used. RESULTS: From 19 centers, 759 patients with constipation were enrolled. The proportions of FC and IBS subtypes of constipation (IBS-C) were 59.4% and 40.6%, respectively. Among them, 492 (64.8%) showed no overlap. One hundred and thirty-six patients (17.9%) presented overlapping GERD, and 80 patients (10.5%) presented overlapping FD. Fifty one (6.7%) of patients were overlapped by both GERD and FD. Coincidental herniated nucleus pulposus (HNP) (P = 0.026) or pulmonary diseases (P = 0.034), reduced fiber intake (P = 0.013), and laxative use (P < 0.001) independently affected the rate of overlaps. These overlapping conditions negatively affected the constipation-associated quality of life, general quality of life, and degree of constipation. CONCLUSIONS: The overlap of GERD or FD was common in patients with constipation. Coincidental HNP or pulmonary diseases, reduced fiber intake, and laxatives use were found to be independent associated factors for overlapping common FGIDs in Korean patients with constipation.
Constipation* ; Dyspepsia ; Gastroesophageal Reflux ; Gastrointestinal Diseases* ; Humans ; Irritable Bowel Syndrome ; Laxatives ; Lung Diseases ; Prospective Studies ; Quality of Life

Syringoma is the most common type of benign intraepidermal eccrine sweat gland tumor in Korea, and is usually found in women in their forties. It presents mostly as a localized lesion, preferring the lower eyelid, cheek, or forehead, and rarely invades the vulval area, and in the case of children, vulvar invasion is even more rare. Tranilast is an antihistamine used for atopic dermatitis and asthma, and has recently been used for the treatment of keloid. A few previous studies have reported both localized and generalized forms of syringoma being effectively resolved with tranilast. Herein, we report a rare and interesting case of milium-like syringoma, which manifested on the vulval area of 10-year old girl that was successfully treated with tranilast.
Asthma ; Cheek ; Child* ; Dermatitis, Atopic ; Eyelids ; Female ; Forehead ; Humans ; Keloid ; Korea ; Sweat Glands ; Syringoma* ; Vulva

A 27-year-old male with underlying history of atopic dermatitis presented with skin lesion on the trunk and upper extremity, occurring a month ago. Scattered erythematous multiple tiny maculopapules and patches were noticed. The lesion was first diagnosed as aggravated atopic dermatitis with folliculitis based on the clinical manifestation, but had failed to improve with antibiotics and medications for atopic dermatitis. KOH examinations were performed on his upper arm's lesion, and with detection of hyphae and isolation of Trichophyton rubrum by fungus culture, he was successfully treated with oral itraconazole 200 mg/day and topical flutrimazole. Tinea incognito refers to dermatophyte infections with atypical clinical presentation caused by previous treatment with steroid. Nowadays, the cases of tinea incognito have been increasing due to the increased usage of steroid and other immunosuppressants. Therefore, it is essential to include fungal infection in the differential diagnosis when cutaneous lesions are noticed in patients taking steroid and other immunosuppressants. Herein, we present a tinea incognito that clinically mimicked folliculitis in atopic dermatitis patient.
Adult ; Anti-Bacterial Agents ; Arthrodermataceae ; Dermatitis, Atopic* ; Diagnosis, Differential ; Folliculitis* ; Fungi ; Humans ; Hyphae ; Immunosuppressive Agents ; Itraconazole ; Male ; Skin ; Tinea* ; Trichophyton ; Upper Extremity

No abstract available.
Mucins* ; Nevus*

BACKGROUND: Acne has been found to be associated with psychosocial problems, and the influence of acne may vary according to the era. OBJECTIVE: We aimed to compare the present quality of life (QOL) of acne patients with that in the past 10 years. Additionally, financial values that patients attach to the treatment of their acne were evaluated. METHODS: We analyzed the influences of acne on QOL using self-reported validated questionnaires (WHOQOLBREF, Skindex-29, APSEA, CADI) between June 2014 and December 2015. RESULTS: 100 acne patients and 70 controls were enrolled in the study. Compared with that in the past 10 years, the quality of life of acne patients decreased in terms of psychological and social relationships, and the difference between males and females was reduced. Clinical characteristics associated with quality of life were identified as age, duration, education, and self-reported severity score, etc. Patient-based financial valuation of treatment costs was associated with the Skindex-29, WHOQOL-BREF, and CADI scores. CONCLUSION: The impact of acne on QOL, especially psychosocial aspects, is important, and early initiation of the appropriate treatment may help to address the diminished QOL and financial burden of acne patients.
Acne Vulgaris* ; Education ; Female ; Health Care Costs ; Humans ; Male ; Quality of Life*