Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of nonautoimmune hyperthyroidism in a patient with TSHR mutation. Our patient was the younger of a set of twins born at 36 weeks and 6 days of gestation. The patient was noted to be more irritable than the older twin at 80 days of age, and the mother was taking methimazole for Graves’ disease that had been diagnosed 12 years prior. Therefore, a thyroid function test was conducted for the patient. The results revealed subclinical hyperthyroidism, and tests of antithyroglobulin antibody, antithyroid peroxidase antibody, and anti-thyroid-stimulating hormone (TSH) receptor antibody were all negative. During follow-up, at around 4 months of age, free T4 increased to 2.89 ng/dL, and TSH was still low at 0.01 μIU/mL; therefore, 3 mg/day of methimazole was initiated. Whole-exome sequencing showed a heterozygous variant of c.1800C>T (p.Ala627Val) in the TSHR gene. Testing in the family confirmed an identical variant in the patient's mother, leading to diagnosis of familial nonautoimmune hyperthyroidism inherited in an autosomal dominant pattern. This is the second report of A627V confirmed as a germline variant.

BACKGROUND AND OBJECTIVES: In the past, subacute thyroiditis causing thyrotoxicosis included both painful and painless subgroup, but it is representative for the painful subacute thyroiditis these days. So we evaluated the clinical and laboratory characteristics of subacute thyroiditis and compared with the painless (silent) thyroiditis, and identified predictive factors of permanent hypothyroidism and recurrence. MATERIALS AND METHODS: This was a retrospective case series study analyzing clinical data of 221 consecutive patients diagnosed between 2009 and 2015. Medical records were reviewed for diagnostic route, age distribution, laboratory data, clinical course and long-term follow up outcome. RESULTS: The mean age was 48 years; female v/s male ratio 3.4:1. Median disease duration was 110 days; mean peak free T4 level was 2.9 ng/dL. 56.7% of painless thyroiditis patients were diagnosed on health checkup or routine thyroid function test with symptoms not typically associated with thyrotoxicosis. Permanent hypothyroidism was not uncommon (11/221; 5.0%). Higher peak thyroid-stimulating hormone (TSH) was associated with permanent hypothyroidism in painless thyroiditis. Lower peak TSH was associated with recurrence rate in both subacute and painless thyroiditis. In painless thyroiditis, short duration of thyrotoxicosis phase was also associated with recurrence rate. CONCLUSION: Considerable numbers of painless thyroiditis without symptoms were diagnosed on health checkup. Higher peak TSH was associated with permanent hypothyroidism in painless thyroiditis. Recurrence rate was related with lower peak TSH in both groups.
Age Distribution ; Female ; Follow-Up Studies ; Humans ; Hypothyroidism ; Male ; Medical Records ; Postpartum Thyroiditis ; Recurrence ; Retrospective Studies ; Thyroid Function Tests ; Thyroid Gland* ; Thyroiditis* ; Thyroiditis, Subacute* ; Thyrotoxicosis ; Thyrotropin

BACKGROUND AND OBJECTIVES: In the past, subacute thyroiditis causing thyrotoxicosis included both painful and painless subgroup, but it is representative for the painful subacute thyroiditis these days. So we evaluated the clinical and laboratory characteristics of subacute thyroiditis and compared with the painless (silent) thyroiditis, and identified predictive factors of permanent hypothyroidism and recurrence. MATERIALS AND METHODS: This was a retrospective case series study analyzing clinical data of 221 consecutive patients diagnosed between 2009 and 2015. Medical records were reviewed for diagnostic route, age distribution, laboratory data, clinical course and long-term follow up outcome. RESULTS: The mean age was 48 years; female v/s male ratio 3.4:1. Median disease duration was 110 days; mean peak free T4 level was 2.9 ng/dL. 56.7% of painless thyroiditis patients were diagnosed on health checkup or routine thyroid function test with symptoms not typically associated with thyrotoxicosis. Permanent hypothyroidism was not uncommon (11/221; 5.0%). Higher peak thyroid-stimulating hormone (TSH) was associated with permanent hypothyroidism in painless thyroiditis. Lower peak TSH was associated with recurrence rate in both subacute and painless thyroiditis. In painless thyroiditis, short duration of thyrotoxicosis phase was also associated with recurrence rate. CONCLUSION: Considerable numbers of painless thyroiditis without symptoms were diagnosed on health checkup. Higher peak TSH was associated with permanent hypothyroidism in painless thyroiditis. Recurrence rate was related with lower peak TSH in both groups.
Age Distribution ; Female ; Follow-Up Studies ; Humans ; Hypothyroidism ; Male ; Medical Records ; Postpartum Thyroiditis ; Recurrence ; Retrospective Studies ; Thyroid Function Tests ; Thyroid Gland* ; Thyroiditis* ; Thyroiditis, Subacute* ; Thyrotoxicosis ; Thyrotropin

PURPOSE: In order to provide effective hospice care, adequate length of survival (LOS) in hospice is necessary. However the reported average LOS is much shorter. Analysis of LOS in hospice has not been reported from Korea. We evaluated the duration of LOS and the factors associated with LOS at our hospice center. MATERIALS AND METHODS: We retrospectively examined 446 patients who were admitted to our hospice unit between January 2010 and December 2012. We performed univariate and multivariate analysis for analysis of factors associated with LOS. RESULTS: The median LOS was 9.5 days (range, 1 to 186 days). The LOS of 389 patients (86.8%) was< 1 month. At the time of admission to hospice, 112 patients (25.2%) were completely bedridden, 110 patients (24.8%) had mouth care only without intake, and 134 patients (30.1%) had decreased consciousness, from confusion to coma. The median time interval between the day of the last anticancer treatment and the day of hospice admission was 75 days. By analysis of the results of multivariate analysis, decreased intake and laboratory results showing increased total white blood cell (WBC), decreased platelet count, increased serum creatinine, increased aspartate aminotransferase (AST), alanine aminotransferase (ALT), and lactate dehydrogenase (LDH) level were poor prognostic factors for survival in hospice. CONCLUSION: Before hospice admission, careful evaluation of the patient's performance, particularly the oral intake, and total WBC, platelet, creatinine, AST, ALT, and LDH level is essential, because these were strong predictors of shorter LOS. In the future, conduct of prospective controlled studies is warranted in order to confirm the relationship between potential prognostic factors and LOS in hospice.
Alanine Transaminase ; Aspartate Aminotransferases ; Blood Platelets ; Coma ; Consciousness ; Creatinine ; Hospice Care ; Hospices* ; Humans ; Korea ; L-Lactate Dehydrogenase ; Leukocytes ; Mouth ; Multivariate Analysis ; Platelet Count ; Prognosis ; Retrospective Studies ; Survival Analysis

Adefovir dipivoxil (ADV) is a nucleotide used as long-term therapy of chronic hepatitis B. Many published reports have shown that long-term high-dose therapy with adefovir can be associated with proximal renal tubular dysfunction resulting in significant hypophosphatemia, renal insufficiency and osteomalacia. We have encountered two patients who developed evidence of hypophosphatemic osteomalacia while on long-term low-dose adefovir therapy for chronic hepatitis B. We report on its clinical features and its potential resolution with cessation of the drug and supplementation with phosphate. We also reviewed the other published cases associated with hypophosphatemic osteomalacia after low-dose adefovir therapy. The symptoms and the hypophosphatemia improved after cessation of the drug and supplementation with phosphate in most cases. Patients taking adefovir long-term should receive regular investigation of the phosphate level and renal function.
Fanconi Syndrome ; Hepatitis B, Chronic* ; Hepatitis, Chronic* ; Humans ; Hypophosphatemia ; Kidney Diseases ; Osteomalacia* ; Renal Insufficiency

Cell death and survival are tightly controlled through the highly coordinated activation/inhibition of diverse signal transduction pathways to insure normal development and physiology. Imbalance between cell death and survival often leads to autoimmune diseases and cancer. Death receptors sense extracellular signals to induce caspase-mediated apoptosis. Acting upstream of CED-3 family proteases, such as caspase-3, Bcl-2 prevents apoptosis. Using short hairpin RNAs (shRNAs), we suppressed Bcl-2 expression in Jurkat T cells, and this increased TCR-triggered AICD and enhanced TNFR gene expression. Also, knockdown of Bcl-2 in Jurkat T cells suppressed the gene expression of FLIP, TNF receptor-associated factors 3 (TRAF3) and TRAF4. Furthermore, suppressed Bcl-2 expression increased caspase-3 and diminished nuclear factor kappa B (NF-kappaB) translocation.
Apoptosis ; Autoimmune Diseases ; Caspase 3 ; Cell Death* ; Gene Expression ; Humans ; NF-kappa B ; Peptide Hydrolases ; Physiology ; Receptors, Death Domain ; RNA, Small Interfering ; Signal Transduction ; T-Lymphocytes* ; TNF Receptor-Associated Factor 4 ; Tumor Necrosis Factor Receptor-Associated Peptides and Proteins

The incidence of type 2 diabetes is rising rapidly because of an increase in the incidence of being overweight and obesity. Identification of genetic determinants for complex diseases, such as type 2 diabetes, may provide insight into disease pathogenesis. The aim of the study was to investigate the shared genetic factors that predispose individuals to being overweight and developing type 2 diabetes. We conducted genome-wide linkage analyses for type 2 diabetes in 386 affected individuals (269 sibpairs) from 171 Korean families and association analyses with single-nucleotide polymorphisms of candidate genes within linkage regions to identify genetic variants that predispose individuals to being overweight and developing type 2 diabetes. Through fine-mapping analysis of chromosome 4q34-35, we detected a locus potentially linked (nonparametric linkage 2.81, logarithm of odds 2.27, P=6 x 10-4) to type 2 diabetes in overweight or obese individuals (body mass index, BMI> or =23 kg m-2). Multiple regression analysis with type 2 diabetes-related phenotypes revealed a significant association (false discovery rate (FDR) P=0.006 for rs13144140; FDR P=0.002 for rs6830266) between GPM6A (rs13144140) and BMI and waist-hip ratio, and between NEIL3 (rs6830266) and insulin level from 1314 normal individuals. Our systematic search of genome-wide linkage and association studies, demonstrate that a linkage peak for type 2 diabetes on chromosome 4q34-35 contains two type 2 diabetes-related genes, GPM6A and NEIL3.
Body Mass Index ; Chromosomes, Human, Pair 4/*genetics ; Diabetes Mellitus, Type 2/*complications/*genetics ; Female ; Genetic Linkage ; *Genetic Loci ; *Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Overweight/*complications/*genetics ; Phenotype ; Physical Chromosome Mapping ; Statistics, Nonparametric

OBJECTIVES: While there have recently been efforts to improve public health service at a governmental level, there is actually insufficient research on awareness of the roles related to public health service among hospital employees. This study examined role perception and function performance related to public health service among the medical staff in a national hospital. METHODS: 15% were randomly sampled from each type of occupation among the medical staff in a national university hospital, a survey was conducted in 323 persons, and there were a total of 265 participants (80.2%): 103 doctors(38.9%), 98 nurses (37.0%), and 64 others (24.1%). RESULTS: The hospital employees had insufficient awareness of their roles as public health service providers in terms of six required items for public health service: 1) services for supporting establishment, implementation, and assessment of public health service policies, 2) participation in the health service activities and support services by central or local governments, 3) technological support and educational services for private health service institutions, 4) health service for unprivileged brackets, 5) health service that requires association with other areas dealing with geriatric, disabled, and mentally-disordered people, and 6) health service for children and mothers. CONCLUSIONS: In general, since the hospital employees had insufficient awareness of their roles and responsibilities as public health service providers, it is necessary to secure manpower exclusively in charge of public health service and provide education about strategic public health service.
Child ; Cognition ; Fees and Charges ; Health Services ; Humans ; Medical Staff ; Occupations ; Public Health ; United States Public Health Service

PURPOSE: The purpose of this study was to investigate the relationship between patients with a neuropsychiatric history and features of their suicide attempt, in order to analyze the risk associated with psychiatrist prescribed drugs. METHODS: We retrospectively investigated cases of intentional overdose drug ingestion in patients greater than 14 years of age who visited OO emergency medical center between January 1, 2008 and July 31, 2010. We evaluated patient medical records to ascertain their age, sex, neuropsychiatric history, and components of ingested intoxicant. Information regarding any suicide reattempt was obtained after discharge through follow up telephone survey. SPSS version 13.0 was used for statistical analysis. Fisher's exact test was performed with p<0.05 considered statistically significant. RESULTS: Ninety-six of 209 patients (46%) had a past history of psychological problems. Among those 96 patients with a history of psychological problems, 46(48%) used an overdose of the medicine prescribed by their psychologist in order to attempt suicide. However, for patients without a history of psychological problems, intoxication by neuropsychiatric drugs was insignificant. Neuropsychiatric patients required greater follow up care after discharge and exhibited significantly more suicide reattempts. CONCLUSION: This study revealed that patients sometimes use the medicine prescribed by their psychologist to attempt suicide. Therefore, an exhaustive plan to control the medicines prescribed to psychiatric patients should be established.
Eating ; Emergencies ; Follow-Up Studies ; Humans ; Medical Records ; Psychiatry ; Retrospective Studies ; Suicide ; Telephone

The Beijing family of Mycobacterium tuberculosis has been emerging in the world. However, there are few nationwide data of genotypic distribution in Korea. This study aimed to identify the genotypic diversity of clinical isolates of M. tuberculosis and to demonstrate the population of Beijing family in Korea. We collected 96 clinical M. tuberculosis isolates from 11 university hospitals nationwide in Korea from 2008 to 2009. We observed 24 clusters in IS6110-RFLP analysis and 19 patterns in spoligotyping. Seventy-five isolates were confirmed to be Beijing family. Two isolates of the K strain and 12 isolates of the K family strain were also found. We found that drug resistance phenotypes were more strongly associated with Beijing family than non-Beijing family (P=0.003). This study gives an overview of the distribution of genotypes of M. tuberculosis in Korea. These findings indicate that we have to pay more attention to control of M. tuberculosis strains associated with the Beijing family.
Drug Resistance, Bacterial ; Genotype ; Humans ; Microbial Sensitivity Tests ; Mycobacterium tuberculosis/*classification/genetics/isolation & purification ; Phenotype ; Polymorphism, Restriction Fragment Length ; Republic of Korea ; Tuberculosis/*epidemiology/genetics/microbiology