Aging has become a global problem, and the interest in healthy aging is growing. Healthy aging involves a focus on the maintenance of the function and well-being of elderly adults, rather than a specific disease. Thus, the management of frailty, which is an accumulated decline in function, is important for healthy aging. The adaptation method was used to develop clinical practice guidelines on frailty management that are applicable in primary care settings. The guidelines were developed in three phases: preparation (organization of committees and establishment of the scope of development), literature screening and evaluation (selection of the clinical practice guidelines to be adapted and evaluation of the guidelines using the Korean Appraisal of Guidelines for Research and Evaluation II tool), and confirmation of recommendations (three rounds of Delphi consensus and internal and external reviews). A total of 16 recommendations (five recommendations for diagnosis and assessment, 11 recommendations for intervention of frailty) were made through the guideline development process. These clinical practice guidelines provide overall guidance on the identification, evaluation, intervention, and monitoring of frailty, making them applicable in primary care settings. As aging and “healthy aging” become more and more important, these guidelines are also expected to increase in clinical usefulness.

Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior–Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC.
Adolescent ; Diagnosis* ; Exome* ; Genetic Heterogeneity* ; Humans ; Kidney Failure, Chronic ; Korea ; Liver ; Mass Screening ; Wills

OBJECTIVES: Several evidence has been suggested that the circadian gene variants contribute to the pathogenesis of seasonal affective disorder. In this study, we aimed to investigate the polymorphism in RORA (Retinoid-related orphan receptor A) gene in relation to seasonal variations among healthy young adults in Seoul, Korea. METHODS: A total of 507 young healthy adult subjects were recruited by advertisement. Seasonal variations were assessed by the Seasonality Pattern Assessment Questionnaire (SPAQ). Single-nucleotide polymorphism in the RORA rs11071547 gene was genotyped by PCR in 507 individuals. Considering summer type as confounding factor, we conducted analysis 478 subjects except 29 subjects of summer type. The Chi-square test was conducted to compare differences between groups of seasonals and non-seasonals. Association between genotypes and Global Seasonality Score (GSS) were tested using ANCOVA (Analysis of covariance). RESULTS: In this sample, the prevalence of SAD was 12.1% (winter type 9.3%, summer type 2.8%). There is no significant difference in genotyping distribution of RORA rs11071547 between groups of seasonals and non-seasonals. Global seasonality score (GSS) and scores of all subscales except body weight and appetite were not significantly different between the group with C allele homozygote and the group with T allele homozygote and heterozygote (p-value 0.138). Scores of body weight and appetite were significantly higher in group with C allele homozygotes. CONCLUSION: These results suggest that RORA gene polymorphism play a role in seasonal variations in appetite and body weight and is associated with susceptibility to seasonal affective disorder in some degree in the population studied.
Adult ; Alleles ; Appetite ; Body Weight ; Child ; Child, Orphaned ; Genotype ; Heterozygote ; Homozygote ; Humans ; Korea ; Polymerase Chain Reaction ; Prevalence ; Surveys and Questionnaires ; Seasonal Affective Disorder ; Seasons* ; Seoul ; Young Adult

Although the currently available literature has provided some empirical support for a tripartite model of child and adolescent anxiety and depression, one of the limitations of these studies was that they have been conducted in America, primarily with Caucasians. In order to make this model more applicable to diverse ethnic and cultural groups, this study used a tripartite model for child and adolescent anxiety and depression in Korea, using confirmatory factor analysis with logically selected items from the Revised Children's Manifest Anxiety Scale (RCMAS), as well as the Children's Depression Inventory (CDI). The results indicated that the model fit of a threefactor model was superior to one- and two-factor models. In addition, the findings of discriminant analysis demonstrated that the correct classification rate with three factors of the tripartite model was superior to the classification rate achievable using CDI and RCMAS. In a departure from Clark and Watson's hypothesis, however, the correlations of three factors were significantly higher than had been expected. The results are discussed on the basis of cultural background.
*Questionnaires ; Personality Inventory/*statistics & numerical data ; *Models, Psychological ; Male ; Korea/epidemiology ; Humans ; Female ; Depression/*diagnosis/epidemiology/*psychology ; Comorbidity ; Child ; Anxiety/*diagnosis/epidemiology/*psychology ; Adolescent

It is well-known that more than 50% of attention-deficit hyperactivity disorder (ADHD) cases also have comorbid psychiatric disorders. We evaluated the comorbid psychopathology of Korean children and adolescents with ADHD using a standardized diagnostic instrument. The Korean Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL-K) was administered and completed in 105 patients who had been referred to the outpatient and inpatient clinics at the Samsung Medical Center from March 2004 to May 2005. All of the cases were diagnosed as ADHD according to DSM-IV criteria. We analyzed their clinical characteristics and psychiatric comorbidities, and assessed the correlation of any comorbidity with gender, age and ADHD subtype. Among our 105 participants, 70 (66.7%) subjects were diagnosed with combined-type ADHD, 22 (21.0%) were the predominantly inattentive type, only 1 (1.0%) was determined to have the predominantly hyperactive-impulsive type of ADHD, and 12 (11.4%) were classified as not otherwise specified (NOS) ADHD. Eighty (76.2%) subjects had at least one comorbid disorder such as oppositional defiant disorder (n = 53, 50.5%), anxiety disorders (n = 35, 33.3%) and affective disorders (n = 15, 14.3%). Our patients ranged in age from five to 16 years. Among the factors including gender, age, and ADHD subtype, ADHD subtype was the only one significant to comorbidity in our study. The results of this study suggest that psychiatric comorbidity in Korean children with ADHD is similar to the results of previous studies in western countries. Out of all the ADHD subtypes, the combined-type group had a significantly higher ratio of comorbid disorders and psychopathologies.
Tic Disorders/epidemiology ; Mood Disorders/epidemiology ; Mental Disorders/*epidemiology ; Male ; Korea/epidemiology ; Humans ; Female ; Elimination Disorders/epidemiology ; Comorbidity ; Child, Preschool ; Child ; Attention Deficit Disorder with Hyperactivity/classification/*epidemiology ; Anxiety Disorders/epidemiology ; Adolescent

PURPOSE: Acute diarrhea in young children is a major problem in pediatric hospitals worldwide. We evaluated the clinical efficacy of orally administered Lactobacillus acidophilus in the treatment of acute diarrhea in children. METHODS: From September 2002 to July 2003 at National Police Hospital 41 children aged 3 months to 5 years with acute diarrhea were enrolled in this study. The patients were randomized to one of two groups to receive either 0.5 x 10(8) colony forming unit (CFU) of L. acidophilus or matching placebo on admission and every 8 hours during hospitalization. RESULTS: The mean duration of diarrhea in all 41 children was decreased (p=0.001) in the L. acidophilus (40.5 hours) group compared to the placebo (56.6 hours) group. Stool frequency was also reduced (p=0.01) on the 3rd day in the L. acidophilus group. Rotavirus was identified in 58% of the patients. The decrease of duration of diarrhea was more significant in rotavirus-negative patients (p=0.002) compared to the rotavirus-positive patients (p=0.027). CONCLUSION: L. acidophilus shows to be an effective therapeutic agent in acute diarrhea in children. Further studies are needed to confirm the present findings.
Child* ; Diarrhea* ; Hospitalization ; Hospitals, Pediatric ; Humans ; Lactobacillus acidophilus* ; Lactobacillus* ; Police ; Probiotics ; Rotavirus ; Stem Cells

Systemic air embolism occurs when air enters the pulmonary venous system as a result of a positive gradient caused by low pulmonary venous pressure or increased airway pressure, or both. Systemic air embolism has been frequently reported after penetrating thoracic trauma and can induce life-threatening complications. In blunt thoracic trauma, systemic air embolism has been rarely diagnosed. Because air embolism associated with blunt trauma is more insidious, diagnosis is usually not appreciated unless special circumstances allow discovery of air in major vessels or coronary arteries, such as during emergency resuscitative thoracotomy. We report a case of systemic air embolism in an 18-month-old girl after accidental thoracic blunt trauma and review related literature.
Child* ; Coronary Vessels ; Diagnosis ; Embolism, Air* ; Emergencies ; Female ; Humans ; Infant ; Thoracotomy ; Venous Pressure

PURPOSE: Neutrophils found around an infarcted area in the brain was once considered as only the physiologic response following the brain injury, but recent studies have shown that inflammatory responses by neutrophils play an important role in the reperfusion injury. The presence of polymorphonuclear leukocytes(PML) is proven by biochemical assay of myeloperoxidase(MPO) secreted in the cytoplasmic granules. We observed the process of PML infiltration on hypoxic-ischemic brain injury of immature rats by the assay of MPO activity and changes of the MPO activity after the administration of fucoidin, inhibitor of P- and L-selectin. METHODS: We used a well characterized model of the brains of 7 day-old-rats, which had unilateral hypoxic and ischemic injuries(HI). Those injuries were induced by unilateral carotid artery ligation followed by timed exposure to hypoxic inspiratory gas mixture(8% O2). MPO activity was measured in the brain tissue homogenates of HI rats(n=18) at 0, 2, 8, 24 and 48 hrs and in rats that received fucoidin immediately before and again after hypoxia(50 mg/kg, n=6) at 8 and 24 hrs. Controls(n=2) were rats with neither hypoxia nor ischemia. The brain samples were homogenized in 20 mM potassium phosphate buffer(pH 7.4) for 50 secs. The homogenate was centrifuged at 14,000 g at 4degrees C for 15 mins and the supernatant was discarded. The tissue was pulverized, weighed, and suspended in 1 mL of 50 mM potassium phosphate buffer solution(pH 6.0) containing 0.5% cetylditrimethylammonium bromide(wt/vol). The tissue was sonicated and centrifuged at 10,000 g for 15 mins. 200 micro L of the supernatant was mixed with 1 mL of 50 mM potassium phosphate buffer solution(pH 6.0) containing 10 micro L of 1.325 mM o-dianisidine hydrochloride and 170 micro L of 3% hydrogen peroxide(vol/vol). Changes in absorbance at 460 nm were measured for 5 mins by using microplate reader. One unit of MPO activity was defined as that degrading 1 micro mol peroxide/min at 25degrees C, and the result was expressed as units of MPO/100 mg tissue. RESULTS: In HI rats, MPO activity increased at 2 hrs after HI and peaked at 24 hrs in the right hemisphere. In rats with fucoidin treatment immediately before and again after hypoxia, the MPO activity significantly decreased in both hemispheres compared with HI rats(P<0.05). MPO activity in the tissue of control rats was insignificant. CONCLUSION: The dynamic changes of the MPO activity suggest the important role of PMN on hypoxic-ischemic brain injuries in immature rats. MPO activity could be used as an index of the severity of injuries of hypoxic-ischemic brains.
Animals ; Anoxia ; Brain Injuries* ; Brain Ischemia ; Brain* ; Carotid Arteries ; Cerebral Infarction ; Cytoplasmic Granules ; Dianisidine ; Humans ; Hydrogen ; Infant, Newborn ; Ischemia ; L-Selectin ; Ligation ; Neutrophils ; Peroxidase* ; Potassium ; Rats* ; Reperfusion Injury

PURPOSE: In preterm infants with brain injury, periventricular echodensity is increased transiently or becomes cyst with neurologic sequelae. This study was done to identify the infants who need early rehabilitation treatment by evaluating the risk factors and neurologic outcome in cystic change group and transient echodensity group. METHODS: Thirty one preterm infants with periventricular echodensity on cranial ultrasonography were divided into cystic change group and transient echodensity group. The prenatal, natal, postnatal risk factors and neurologic outcome were evaluated in each group. RESULTS: The risk factors for periventricular cystic change included gestational age, ventilator use, oxygen administration, surfactant use and anemia. The risk factors for transient periventricular echodensity were the same as the cystic change group except gestational age. The development of cerebral palsy occurred in 3 cases out of 10 cases, 2 cases out of 21 cases in each group. CONCLUSION: The preterm infants with periventricular cysts or transient periventricular echodensity need to be observed closely for the development of adverse neurological outcomes especially of those with aforementioned risk factors.
Anemia ; Brain Injuries ; Cerebral Palsy ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Infant, Premature* ; Oxygen ; Rehabilitation ; Risk Factors* ; Ultrasonography ; Ventilators, Mechanical

PURPOSE: In preterm infants with brain injury, periventricular echodensity is increased transiently or becomes cyst with neurologic sequelae. This study was done to identify the infants who need early rehabilitation treatment by evaluating the risk factors and neurologic outcome in cystic change group and transient echodensity group. METHODS: Thirty one preterm infants with periventricular echodensity on cranial ultrasonography were divided into cystic change group and transient echodensity group. The prenatal, natal, postnatal risk factors and neurologic outcome were evaluated in each group. RESULTS: The risk factors for periventricular cystic change included gestational age, ventilator use, oxygen administration, surfactant use and anemia. The risk factors for transient periventricular echodensity were the same as the cystic change group except gestational age. The development of cerebral palsy occurred in 3 cases out of 10 cases, 2 cases out of 21 cases in each group. CONCLUSION: The preterm infants with periventricular cysts or transient periventricular echodensity need to be observed closely for the development of adverse neurological outcomes especially of those with aforementioned risk factors.
Anemia ; Brain Injuries ; Cerebral Palsy ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Infant, Premature* ; Oxygen ; Rehabilitation ; Risk Factors* ; Ultrasonography ; Ventilators, Mechanical