Two external quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as newborn screening tests using tandem mass spectrometry, were performed in 2015. A total of 44 specimens in the form of dried blood spots were distributed to 16 laboratories and the response rate of these laboratories was 100%. The mean, standard deviation, coefficient of variation, median, and cut-offs were evaluated for each analyte in the newborn screening tests. Two EQA trials for the analyses of methylmalonic acid, vanillylmandelic acid, catecholamines, metanephrines, organic acids, and amino acids were also performed. A well-designed EQA program and continuous education would improve the performance of biochemical genetics tests.
Adrenal Hyperplasia, Congenital ; Amino Acids ; Catecholamines ; Congenital Hypothyroidism ; Education ; Galactosemias ; Homocystinuria ; Humans ; Infant, Newborn ; Korea* ; Maple Syrup Urine Disease ; Mass Screening ; Methylmalonic Acid ; Molecular Biology* ; Phenylketonurias ; Tandem Mass Spectrometry ; Vanilmandelic Acid

Two trials of external quality assessment (EQA) of conventional newborn screening tests for phenylketonuria, galactosaemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as newborn screening tests were performed using tandem mass spectrometry in 2014. A total of 39 specimens in the form of dried blood spots were distributed to 16 laboratories and the response rate of these laboratories was 100%. Screening tests for phenylketonuria and congenital hypothyroidism did not meet the accepted performance criteria in some laboratories. The mean, standard deviation, coefficient of variation, median, and cut-offs were evaluated for each analyte in the newborn screening tests. Two trials of EQA for the analyses of methylmalonic acid, vanillylmandelic acid, catecholamines, metanephrines, organic acids, and amino acids were also performed. A well-designed EQA program and continuous education would improve the performance of biochemical genetic testing.
Adrenal Hyperplasia, Congenital ; Amino Acids ; Catecholamines ; Congenital Hypothyroidism ; Education ; Homocystinuria ; Humans ; Infant, Newborn ; Korea ; Maple Syrup Urine Disease ; Mass Screening ; Methylmalonic Acid ; Molecular Biology* ; Phenylketonurias ; Tandem Mass Spectrometry ; Vanilmandelic Acid

PURPOSE: Asthma exacerbation from human rhinovirus (HRV) infection is associated with deficient antiviral interferon (IFN) secretion. Although chronic rhinosinusitis (CRS), an inflammatory upper airway disease, is closely linked to asthma, IFN-beta responses to HRV infections in human nasal epithelial cells (HNECs) from CRS patients remain to be studied. We evaluated inflammatory and antiviral responses to HRV infection in HNECs from CRS patients. METHODS: HNECs, isolated from turbinate tissue of 13 patients with CRS and 14 non-CRS controls, were infected with HRV16 for 4 hours. The HRV titer, LDH activity, production of proinflammatory cytokines and IFN-beta proteins, and expression levels of RIG-I and MDA5 mRNA were assessed at 8, 24, and 48 hours after HRV16 infection. RESULTS: The reduction in viral titer was slightly delayed in the CRS group compared to the non-CRS control group. IL-6 and IL-8 were significantly increased to a similar extent in both groups after HRV infection. In the control group, IFN-beta production and MDA5 mRNA expression were significantly increased at 8 and 24 hours after HRV16 infection, respectively. By contrast, in the CRS group, IFN-beta was not induced by HRV infection; however, HRV-induced MDA5 mRNA expression was increased, but the increase was slightly delayed compared to the non-CRS control group. The RIG-I mRNA level was not significantly increased by HRV16 infection in either group. CONCLUSIONS: HRV-induced secretion of proinflammatory cytokines in CRS patients was not different from that in the non-CRS controls. However, reductions in viral titer, IFN-beta secretion, and MDA5 mRNA expression in response to HRV infection in CRS patients were slightly impaired compared to those in the controls, suggesting that HRV clearance in CRS patients might be slightly deficient.
Asthma ; Cytokines ; Epithelial Cells* ; Humans ; Interferon-beta* ; Interferons ; Interleukin-6 ; Interleukin-8 ; Rhinovirus ; RNA Helicases ; RNA, Messenger ; Turbinates

Four trials of external quality assessment in diagnostic hematology were performed in 2008 with average 822 participating laboratories in Korea. We performed quality assessment for white blood cell count, hemoglobin, hematocrit, red blood cell count, platelet count, blood cell morphology, prothrombin time and activated partial thromboplastin time. The response rate was more than 96.5%. The coefficients of variation in hemoglobin, hematocrit and RBC was stable but variable in platelet count and WBC count according to measuring cell count. Test results of blood cell morphology showed variation among various cell morphologies.
Blood Cells ; Cell Count ; Erythrocyte Count ; Hematocrit ; Hematology ; Hemoglobins ; Korea ; Leukocyte Count ; Partial Thromboplastin Time ; Platelet Count ; Prothrombin Time

PURPOSE: This study was to develop and prove the effects of aself management compliance promotion program for primary hypertension patients who reside in rural communities. METHOD: The content of the self management compliance promotion program developed by this study was as follows: A leader trains patients as a group or individually, in walking, education and green tea therapy from the first to twelfth week. From the thirteenth to twenty fourth week, the patients should perform walking and green tea therapy by themselves. One hundred twenty subjects volunteered to participate in the study, who were among those registered as hypertension patients in the 14 community health clinics located in Chungcheongbuk-do. RESULT: Systolic blood pressure, total cholesterol, low-density lipoprotein cholesterol, triglyceride, step width, and degree of obesity decreased significantly. High-density lipoprotein cholesterol, step length, knowledge of hypertension, and self management compliance significantly increased. CONCLUSION: A self management compliance promotion program for primary hypertensive patients enhances biophysical index and knowledge on hypertension, thus ultimately suggesting a nursing intervention for promoting self management compliance.
Adult ; Aged ; Aged, 80 and over ; Female ; Health Promotion ; Humans ; Hypertension/psychology/*therapy ; Life Style ; Male ; Middle Aged ; Patient Compliance ; *Patient Education as Topic ; Rural Population ; *Self Care

PURPOSE: Sebaceous epithelioma which developed on the conjunctiva is a very rare benign skin and adnexal tumor. No case has been reported in the Republic of Korea. We report a case of sebaceous epithelioma on the lower palpebral conjunctiva. METHODS: A 69 year old man had visited with asymptomatic mass on lower palpebral conjunctiva. The mass was resected and biopsied for histological examination. RESULTS: Sebaceous epithelioma was diagnosed by histological examination.
Aged ; Carcinoma ; Conjunctiva ; Humans ; Republic of Korea ; Skin

Linear focal elastosis is characterized clinically by horizontal yellowish palpable striae on the lower back and histologically fragmentation or aggregation of elastic fibers. We herein report four cases of linear focal elastosis in male patients. They were 12 to 17 years old and the disease duration was 1 to 3 years. We suggest linear focal elastosis is a variant of striae distensae affecting elastic fibers.
Adolescent ; Elastic Tissue ; Humans ; Male ; Striae Distensae

Pierre Robin syndrome presents in the neonatal period with upper airway obstruction and feeding difficulties. Infants with pronounced micrognathia may fail to thrive because of chronic airway obstruction, or experience severe respiratory distress and feeding difficulties. This is potentially fatal and surgical intervention in these cases is necessary. We experienced two newborns with pronounced micrognathia who were managed with tongue-lip adhesion and tracheostomy. Herein, we report these two cases with literature reviews.
Airway Obstruction ; Humans ; Infant ; Infant, Newborn ; Pierre Robin Syndrome* ; Tracheostomy*

Sirenomelia, characterised by a complete or incomplete fusion of the lower extremities, is a severe form of caudal defect affecting 1.5-4.2 in 100,000 births. Most cases of sirenomelia die within 5days after birth and are associated with abnormalities such as renal agenesis, urinary tract agenesis, single umbilical artery, etc. Third trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios whereas the amount of amniotic fluid may be sufficient to allow diagnosis in the early second trimester. We report a case of sirenomelius at 12 weeks of gestation using prenatal transvaginal ultrasonography.
Amniotic Fluid ; Diagnosis ; Ectromelia* ; Female ; Humans ; Lower Extremity ; Oligohydramnios ; Parturition ; Pregnancy ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Single Umbilical Artery ; Ultrasonography ; Urinary Tract

No abstract available.
Chickenpox* ; Child* ; Humans