Congenital hypertrophic pyloric stenosis is the most common intra-abdominal disease required surgery during the first few months of life. The expression of pyloric stenosis is dependent upon the genetic influence of ancestors affected with the disease, as well as unknown environmental influences in the postnatal period. Pyloric stenosis has been reported in multiple sibs in a family, which suggests the genetic influence on the expression of this disease. Until now, the genetic influence is thought a sex-modified polygenic or multifactorial background which facilitates the expression of a common dominant gene. We experienced a case of congenital hypertrophic pyloric stenosis in a two siblings. The siblings suffered projectile vomiting for 2~4 days at 16 days old of age and 15 days old of age. After we confirmed the diagnosis by upper gastrointestinal series and abdominal sonogram, the Fredet-Ramstedt pyloromyotomy was done successfully. This case suggests the genetic influence on the expression of this disease.
Diagnosis ; Genes, Dominant ; Humans ; Pyloric Stenosis ; Pyloric Stenosis, Hypertrophic* ; Siblings* ; Vomiting

BACKGROUND: Serial (staged) excision of congenital melanocytic nevi (CMN) is an important treatment option for medium-sized CMN. However, few studies have investigated the outcomes of serial excision in detail.OBJECTIVE: We report our experience regarding serial excision of CMN, including methods to effectively reduce the procedural stages and scar length.METHODS: We retrospectively reviewed medical records of patients with CMN treated between 2008 and 2015; 33 patients (7 men and 26 women) underwent serial excision.RESULTS: The CMN were located on the face (n=11), arms (n=6), legs (n=11), and other areas of the body (n=11), including the back (n=2), chest (n=1), deltoid region (n=1), and buttocks (n=1). The mean CMN area was 19.7 cm². The mean number of surgical stages was 2.2. The mean interval between surgeries was 10.6 months. A marginal S-shaped incision along both edges of the nevus was preferred over elliptical excision, to reduce scarring. Pulsed dye, erbium:yttrium–aluminum–garnet (YAG), neodymium-doped:YAG, and carbon dioxide fractional lasers were used to improve the final outcomes and minimize scarring.CONCLUSION: Serial excision is an effective treatment option associated with greater patient satisfaction, particularly for medium-sized and hairy CMN. Conventional elliptical serial excision is associated with the formation of elongated scars and sacrifices normal skin adjacent to the lesion. The marginal S-shaped incision reduces scarring by dispersing mechanical tension on the scar without skin wastage. Compared with the elliptical excision method, the marginal S-shaped incision reduces the number of surgical stages and results in a cosmetically superior scar. Performing a marginal S-shaped incision is technically challenging in certain anatomical locations, such as the eyes, nose, and mouth. Therefore, it is necessary to combine this procedure with erbium:YAG and neodymium-doped:YAG ablation.
Arm ; Buttocks ; Carbon Dioxide ; Cicatrix ; Dermatologic Surgical Procedures ; Humans ; Leg ; Male ; Medical Records ; Methods ; Mouth ; Nevus ; Nevus, Pigmented ; Nose ; Patient Satisfaction ; Retrospective Studies ; Skin ; Thorax

Peripheral T cell lymphoma encompasses lymphomas with a variety of histologic appearances and clinical patterns. Recently, it has been suggested that almost all of the histologic features described under the name of polymorphic reticulosis(PR), lethal midline granuloma, and midline malignant reticulosis can be included in those generally described for malignant lymphomas of peripheral T cell origin(PTCL). There have been few studies of pathogenesis or tissue damage mechanism in PR patients. The need for a precise mechanism for tissue damage has important therapeutic implications. Using immunohistochemical methods with polyclonal anti IL-6 antibody, the authors describe 5 cases of PR with clinically and pathologically typical PR demonstrating a high expression of IL-6. According to classification, 2 cases of grade 1 PR showed the highest expressions, and 2 cases of grade 2 PR with atypical lymphoid cells showed moderate activity, but one case progressed into frank lymphoma(grade 3) and lost IL-6 expression. This strongly implies that some cases of PR have a different mechanism of tissue damage from frank PTCL, despite the one disease spectrum. Further studies on more cases may help clarify the pathogenesis.
Adult ; Comparative Study ; Female ; Human ; Immunohistochemistry ; Interleukin-6/*physiology ; Lymphoma, T-Cell/metabolism/pathology ; Male ; Microscopy ; Middle Age ; Phenotype ; Polymorphism (Genetics) ; Reticuloendotheliosis/genetics/*metabolism/pathology

OBJECTIVES: We investigated the relationship of personality traits with dopamine D4 receptor(DRD4) exon III polymorphism in a Korean population. METHODS: We analysed DRD4 exon III 48-bp repeats polymorphism in 173 Korean healthy female adolescents(age=13.88+/-0.29 years) who also completed Temperament and Character Inventory(TCI). RESULTS: Novelty seeking score of the TCI was significantly higher in the subjects with DRD4 long alleles(>or=5 repeats) compared with the subjects without these(t=2.11, p=0.037). CONCLUSION: The present study supports the previous reports that long repeats of the DRD4-exon III polymorphism are related with Novelty Seeking personality.
Dopamine* ; Exons ; Female ; Humans ; Receptors, Dopamine* ; Temperament

Education ; Family Characteristics ; Humans ; Korea ; Nutrition Surveys ; Smoke ; Smoking Cessation ; Smoking ; Taxes ; Tobacco Products

The congenital absence of the major salivary glands is an uncommon disorder, although it is not always symptomatic. Their etiopathogenesis is poorly understood. Aplasia of the salivary glands may occur either in isolation or in association with other developmental abnormalities. Some authors have reported familial salivary gland aplasia. Aplasia may be partial or total. Severely affected patients suffer from dry mouth and an increased rate of dental decay. Following clinical exclusion of the cause of these symptoms, the diagnosis of submandibular gland aplasia can be confirmed by computed tomography and a Tc-99m pertechnate scintiscan. The authors experienced a case of incidentally detected, unilateral submandibular glandular aplasia in a 38-year old female. So we present this case with review of literatures.
Adult ; Dental Caries ; Diagnosis ; Female ; Humans ; Mouth ; Salivary Glands ; Submandibular Gland

BACKGROUND AND OBJECTIVES: Click-evoked myogenic potentials have been used as a clinical test of the vestibulospinal reflex (VSR) and a complementary test for determining the lesion site. But there have not been clear diagnostic criteria for the VEMP test, so its use has been limited. We compared the parameters of VEMP among the normal and vestibulopathy patients and clarified the diagnostic value of each parameter. MATERIALS AND METHODS: We compared the results of VEMP conducted in 14 healthy volunteers and 35 patients who had been diagnosed with unilateral vestibulopathy by the vestibular function test (VFT). As parameters of VEMP, latency, amplitude and interlatency were compared between the two groups. We got positive findings of VEMP according to each parameter. RESULTS: Twenty-four percent of the patients showed normal VEMP findings, but seventy-five percent of that patients showed abnormal findings. Absent VEMP formation, prolonged latency, especially p13, and decreased amplitude (increased VEMP asymmetry) were shown in significant proportions of the patients. CONCLUSION: VEMP is a clinically complementary diagnostic method of VFT for dizzy patients. Prolonged peak latency and increased VEMP asymmetry are diagnostically valuable in the evaluation of that test.
Dizziness ; Evoked Potentials ; Healthy Volunteers ; Humans ; Reflex ; Vestibular Function Tests

BACKGROUND: In January 2015, South Korea's government raised the cigarette tax, and the retail price of cigarettes abruptly increased by 80% compared to the previous year. This research aimed to determine the effect of this increase on smoking cessation among South Korean smokers. METHODS: We analyzed data collected by the 2013–2015 South Korea National Health and Nutrition Examination Survey of 15,203 South Koreans over 19 years old using regression analysis. We examined the recent non-smoking period of nonsmoking people, prepared according to the survey, and analyzed the recent smoking cessation ratio. RESULTS: Among smokers, from 2013 to 2014, the smoking cessation rate was 7.2%, and it increased to 9.9% in 2015 after the increase in the cigarette tax. In 2015, the recent smoking cessation rate was higher among people over the age of 60 (odds ratio [OR], 2.67) compared to those between the ages of 40 and 49. The recent smoking cessation rate was higher among people with below elementary education (OR, 2.28) and above university education (OR, 1.94) compared to high school, higher for those with apartments (OR, 1.74) compared to general type residences, and higher among those with a household income in the low-middle quartile (Q2) (OR, 2.32) compared to the highest quartile (Q4). CONCLUSION This innovative policy including increase in cigarette prices affected smoking cessation, and its impact varied by sub-group of smokers in South Korea.

Recently, real-time polymerase chain reaction (PCR) using the U-TOP™HL Genotyping Kit has been introduced to detect genetic hearing loss caused by certain type of gene variants popularly found in Korea. The mitochondrial 12S ribosomal ribonucleic acid (rRNA) genes are related to aminoglycoside induced or non-syndromic, sensorineural hearing loss. Among them, 1555A>G is commonly found and reported worldwide. We are presenting the case of a mother and a son, who were screened by real-time PCR using the U-TOP™HL Genotyping Kit and were found both to have the mitochondrial 12s rRNA 1555A>G variant with a different hearing loss phenotype. This report encourages clinicians to use this or similar screen methods for patients with familial hearing loss.