Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.

PURPOSE: In laparoscopic distal gastrectomy for gastric cancer, most surgeons prefer extra-corporeal anastomosis because of technical challenges and unfamiliarity with intra-corporeal anastomosis. Herein, we report the feasibility and safety of intra-corporeal Billroth-II anastomosis in gastric cancer. METHODS: From April 2004 to March 2011, 130 underwent totally laparoscopic distal gastrectomy with intra-corporeal Billroth-II reconstruction, and 269 patients underwent laparoscopy-assisted distal gastrectomy with extra-corporeal Billroth-II reconstruction. Surgical efficacies and outcomes between two groups were compared. RESULTS: There were no differences in demographics and clinicopathological characteristics. The mean operation and reconstruction times of totally laparoscopic distal gastrectomy were statistically shorter than laparoscopy-assisted distal gastrectomy (P = 0.019; P < 0.001). Anastomosis-related complications were observed in 11 (8.5%) totally laparoscopic distal gastrectomy and 21 (7.8%) laparoscopy-assisted distal gastrectomy patients, and the incidence of these events was not significantly different. Post-operative hospital stays for totally laparoscopic distal gastrectomy were shorter than laparoscopy-assisted distal gastrectomy patients (8.3 +/- 3.2 days vs. 9.9 +/- 5.3 days, respectively; P = 0.016), and the number of times parenteral analgesic administration was required in laparoscopy-assisted distal gastrectomy patients was more frequent after surgery. CONCLUSION: Intra-corporeal Billroth-II anastomosis is a feasible procedure and can be safely performed with the proper experience for laparoscopic distal gastrectomy. This method may be less time consuming and may produce a more cosmetic result.
Cosmetics ; Demography ; Gastrectomy ; Humans ; Incidence ; Length of Stay ; Stomach Neoplasms

OBJECTIVES: We analyzed Korea's data privacy regime in the context of protecting and utilizing health and medical big data and tried to draw policy implications from the analyses. METHODS: We conducted comparative analyses of the legal and regulatory environments governing health and medical big data with a view to drawing policy implications for Korea. The legal and regulatory regimes considered include the following: the European Union, the United Kingdom, France, the United States, and Japan. We reviewed relevant statutory materials as well as various non-statutory materials and guidelines issued by public authorities. Where available, we also examined policy measures implemented by government agencies. RESULTS: In this study, we investigated how various jurisdictions deal with legal and regulatory issues that may arise from the use of health and medical information with regard to the protection of data subjects' rights and the protection of personal information. We compared and analyzed various forms of legislation in various jurisdictions and also considered technical methods, such as de-identification. The main findings include the following: there is a need to streamline the relationship between the general data privacy regime and the regulatory regime governing health and medical big data; the regulatory and institutional structure for data governance should be more clearly delineated; and regulation should encourage the development of suitable methodologies for the de-identification of data and, in doing so, a principle-based and risk-based approach should be taken. CONCLUSIONS: Following our comparative legal analyses, implications were drawn. The main conclusion is that the relationship between the legal requirements imposed for purposes of personal information protection and the regulatory requirements governing the use of health and medical data is complicated and multi-faceted and, as such, their relationship should be more clearly streamlined and delineated.
Computer Security ; European Union ; France ; Government Agencies ; Great Britain ; Humans ; Japan ; Korea ; Privacy ; United States

No abstract available.
Adolescent ; Child ; Flow Cytometry ; Gene Rearrangement ; Humans ; Immunophenotyping ; Karyotyping ; Male ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis ; Receptors, Antigen, T-Cell/genetics/metabolism ; fms-Like Tyrosine Kinase 3/genetics

Through the advent of surgical techniques and the improvement of laparoscopic tools including the ultrasonic activated scissor, laparoscopic gastrectomy has been increasingly used in far more cases of benign or malignant gastric lesions for the benefit of patients without compromising therapeutic outcomes. Even though possible complications provoked by the ultrasonic activated scissor can be prevented during the procedure with increasing advanced laparoscopic experience and supervision, unexpected late complications after the operations rarely occur. An extremely rare case of left incarcerated diaphragmatic hernia of the transverse colon developed in an 81-year-old female patient as a late complication, 8 months after laparoscopy-assisted total gastrectomy for gastric cancer, with laparoscopy successfully resumed and without the need to sacrifice any portion of the bowel.
Aged, 80 and over ; Colon, Transverse ; Female ; Gastrectomy ; Hernia, Diaphragmatic ; Humans ; Laparoscopy ; Organization and Administration ; Stomach Neoplasms ; Ultrasonics

Uterine leiomyomas are the most common benign uterine tumors. They are estimated to be present in at least 20% of all women of reproductive age and may be asymptomatic in 40-50% of women older than 40 years of age. They may be subserosal, intramural, or submucosal in location within the uterus or located in the cervix, in the broad ligament, or on a pedicle. But it seems to be rare to experience a intraligamentary huge leiomyoma in the broad ligament.Recently we have experienced a case of intraligamentary huge leiomyoma with its weight of 3146 gm in 45 year-old primiparous woman. We present this case with a brief review of the literature.
Broad Ligament ; Cervix Uteri ; Female ; Humans ; Leiomyoma* ; Middle Aged ; Uterus

The vast majority of malignant tumors involving the vagina are secondary spread from primary malignant lesion of the cervix uteri, the sigmoid colon, the bladder and the vulva. Primary invasive carcinoma of the vagina remains among the rare gynecologic malignant tumor. The diagnosis of primary carcinoma of the vagina requires that the cervix and the vulva be intact and no clinical evidence of other primary tumors exist. Greater than 80-90% of all vaginal tumors are squamous cell type. We experienced two cases of primary vaginal cancer of 68 years old woman without any other gynecologic disease and 67 years old woman after hysterectomy for benign desease. We presented these cases with a brief review of related literatures.
Aged ; Cervix Uteri ; Colon, Sigmoid ; Diagnosis ; Female ; Genital Diseases, Female ; Humans ; Hysterectomy ; Neoplasms, Squamous Cell ; Urinary Bladder ; Vagina ; Vaginal Neoplasms* ; Vulva

OBJECTIVES: In this study the relationship between neighborhood deprivation and the unmet health care needs of elderly individuals (≥ 65 years) was examined. Some previous studies suggested that neighborhood characteristics affect access to health care, yet research on the unmet needs of older individuals is limited. METHODS: Multilevel logistic regression analysis was used to assess the relationship of neighborhood-level factors with unmet health care needs due to costs, adjusting for individual-level factors, in individuals ≥ 65 years in the 2017 Korean Community Health Survey (n = 63,388). RESULTS: There were 2.6% of elderly individuals who experienced unmet health care needs due to costs. Following adjustment for individual and neighborhood characteristics, the neighborhood deprivation in urban areas was found to have an inverse association with unmet needs (odds ratio = 0.50; 95% confidence interval = 0.24–1.06) for the most deprived quartile versus the least deprived quartile). However, in rural areas neighborhood deprivation was not a significant variable. Among the individual-level variables, household income was one of the strongest correlates with unmet needs in both urban and rural areas. CONCLUSION: The present findings suggest that targeted policy interventions reflecting both neighborhood and individual characteristics, should be implemented to reduce the unmet health care needs of elderly individuals.
Aged ; Delivery of Health Care ; Family Characteristics ; Health Services Accessibility ; Health Surveys ; Humans ; Korea ; Logistic Models ; Multilevel Analysis ; Residence Characteristics