No abstract available.
Follow-Up Studies* ; Stomach Neoplasms* ; Stomach*

No abstract available.
Ankle Fractures* ; Ankle*

Background: and Purpose Premanifest mutation carriers with spinocerebellar ataxia (SCA) can exhibit subtle abnormalities before developing ataxia. We summarized the preataxic manifestations of SCA1, -2, -3, and -6, and their associations with ataxia onset. Methods: We included studies of the premanifest carriers of SCA published between January 1998 and December 2019 identified in Scopus and PubMed by searching for terms including ‘spinocerebellar ataxia’ and several synonyms of ‘preataxic manifestation’. We systematically reviewed the results obtained in studies categorized based on clinical, imaging, and laboratory markers. Results: We finally performed a qualitative analysis of 48 papers. Common preataxic manifestations appearing in multiple SCA subtypes were muscle cramps, abnormal muscle reflexes, instability in gait and posture, lower Composite Cerebellar Functional Severity scores, abnormalities in video-oculography and transcranial magnetic stimulation, and gray-matter loss and volume reduction in the brainstem and cerebellar structures. Also, decreased sensory amplitudes in nerve conduction studies were observed in SCA2. Eotaxin and neurofilament lightchain levels were revealed as sensitive blood biomarkers in SCA3. Concerning potential predictive markers, hyporeflexia and abnormalities of somatosensory evoked potentials showed correlations with the time to ataxia onset in SCA2 carriers. However, no longitudinal data were found for the other SCA gene carriers. Conclusions Our results suggest that preataxic manifestations vary among SCA1, -2, -3, and -6, with some subtypes sharing specific features. Combining various markers into a standardized index for premanifest carriers may be useful for early screening and assessing the risk of disease progression in SCA carriers.

Background: and Purpose Premanifest mutation carriers with spinocerebellar ataxia (SCA) can exhibit subtle abnormalities before developing ataxia. We summarized the preataxic manifestations of SCA1, -2, -3, and -6, and their associations with ataxia onset. Methods: We included studies of the premanifest carriers of SCA published between January 1998 and December 2019 identified in Scopus and PubMed by searching for terms including ‘spinocerebellar ataxia’ and several synonyms of ‘preataxic manifestation’. We systematically reviewed the results obtained in studies categorized based on clinical, imaging, and laboratory markers. Results: We finally performed a qualitative analysis of 48 papers. Common preataxic manifestations appearing in multiple SCA subtypes were muscle cramps, abnormal muscle reflexes, instability in gait and posture, lower Composite Cerebellar Functional Severity scores, abnormalities in video-oculography and transcranial magnetic stimulation, and gray-matter loss and volume reduction in the brainstem and cerebellar structures. Also, decreased sensory amplitudes in nerve conduction studies were observed in SCA2. Eotaxin and neurofilament lightchain levels were revealed as sensitive blood biomarkers in SCA3. Concerning potential predictive markers, hyporeflexia and abnormalities of somatosensory evoked potentials showed correlations with the time to ataxia onset in SCA2 carriers. However, no longitudinal data were found for the other SCA gene carriers. Conclusions Our results suggest that preataxic manifestations vary among SCA1, -2, -3, and -6, with some subtypes sharing specific features. Combining various markers into a standardized index for premanifest carriers may be useful for early screening and assessing the risk of disease progression in SCA carriers.

PURPOSE: In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began screening for inherited metabolic disorders using MS/MS in April, 2001. Our goal was to determine the overall prevalence of metabolic disorders and to assess the effectiveness of newborn screening by MS/MS in Korea. METHODS: From April, 2001 to December, 2007, we screened newborns and high risk groups using MS/MS. Acylcarnitines and amino acids were extracted and butylated and were introduced into the inlet of MS/MS. Confirmatory testing including a repeat newborn screening, and urine organic acid and plasma amino acid analysis were performed on a case-by-case basis. RESULTS: The total number of screened subjects 284,933 which comprised 251,799 neonates and 33,134 high risk subjects. The recall rate was 0.4% (1158 tests) and true positive cases were 117 (0.04%). Confirmed metabolic disorders (newborn/high risk group) were as follows; 78 (25/53) amino acid disorders, 27 (16/11) organic acid disorders, and 12 (5/7) fatty acid oxidation disorders. The estimated prevalence of inherited metabolic diseases in newborns was 1:5,000 and that in the total group was 1:2,000. CONCLUSION: Newborn screening by MS/MS improved the detection of many inherited metabolic disorders. We therefore propose that all newborns be screened by a MS/MS national program and followed-up using a systemic organization strategy.
Amino Acids ; Bays ; Humans ; Infant, Newborn ; Mass Screening ; Metabolic Diseases ; Plasma ; Prevalence ; Tandem Mass Spectrometry

Mycobacterium neoaurum is rapidly growing mycobacteria that can cause human infections. It commonly causes bloodstream infections in immunocompromised hosts, and unlike other mycobacteria species, it rarely causes pulmonary infections. We confirmed the first pulmonary infection case in Korea caused by M. neoaurum using full-length 16S rRNA gene sequencing.
Adult ; Female ; Humans ; Lung Diseases/*diagnosis/microbiology ; Mycobacterium/genetics/*isolation & purification ; Mycobacterium Infections/*diagnosis/microbiology ; Nontuberculous Mycobacteria/genetics/isolation & purification ; RNA, Ribosomal, 16S/genetics ; Republic of Korea ; Sequence Analysis, RNA

BACKGROUND: The objective of this study was to assess the serum 25-hydroxyvitamin D (25OHD) status and evaluate the associated factors in a Korean pediatric population aged 0-18 yr. METHODS: Serum 25OHD levels were retrospectively analyzed in 13,236 Korean children and adolescents. 25OHD tests by chemiluminescent immunoassay were requested from 332 medical institutions nationwide in Korea between January 2014 and December 2014. Prevalence of vitamin D deficiency (VDD) and insufficiency (VDI) and the associated factors were analyzed. VDD and VDI were defined as serum 25OHD levels of <20.0 ng/mL and 20.0-29.9 ng/mL, respectively. RESULTS: The 25OHD levels negatively correlated with age (r=-0.4033, P<0.001). Overall, 79.8% boys and 83.8% girls had hypovitaminosis D (VDI or VDD). The Odds ratios (ORs) of being in the VDD/VDI category as against the reference category of VDS (vitamin D sufficiency) were as follows: increase in age by 1 yr (OR=1.42/1.25, all P<0.001); girls (OR=1.32/1.16, P<0.001/P=0.004) compared to boys, spring (OR=1.61/1.80), fall (OR=1.31/1.28), and winter (OR=1.44/2.03, all P<0.001) compared to summer season; living in urban areas (OR=1.23, P<0.001) compared to rural areas. CONCLUSIONS: VDD and VDI are highly prevalent in children and adolescents in Korea. Serum 25OHD levels decreased significantly according to increasing age. Winter and spring seasons, increasing age, female sex, and living in urban areas are the factors associated with a high risk of VDD or VDI.
Adolescent* ; Child* ; Female ; Humans ; Immunoassay ; Korea ; Odds Ratio ; Prevalence* ; Retrospective Studies ; Seasons ; Vitamin D Deficiency* ; Vitamin D* ; Vitamins*

BACKGROUND: In Korea, 17-alpha-hydroxyprogesterone (17-OHP) neonatal screening for congenital adrenal hyperplasia (CAH) has a high false positive rate. Preterm infants have higher levels of 17-OHP than term infants. We established the separate cutoff values of 17-OHP under the guideline of the Clinical and Laboratory Standard Institute C28-A3 to reduce a false positive rate. METHODS: The 17-OHP enzyme-immunoassay was used in blood spots of 22,601 newborns. To decide whether to partition cutoff values based on sex, sampling date and birth weight was assessed by Z-test and standard deviation (SD) ratio. If the result was significant, we estimated the cutoff value with 90% confidence intervals (CIs) using the nonparametric method. RESULTS: In the subclasses based on sex and sampling date, the results were not significant. However, the birth weight-adjusted subclasses (SD ratio > 1.5) showed that it was necessary to distinguish low-birth-weight infants from the others. We selected the subclass categories to reflect the concept of low- or very-low-birth-weight infant. The maximum percentile to define a 90% CI was chosen in each subclass. After applied the re-estimated cutoff value, the recall rate was decreased from 0.6% to less than 0.2%. CONCLUSIONS: The birth weight-adjusted cutoff value of 17-OHP in neonatal screening for CAH can be reduced the false positive rate of low-birth-weight infants. This approach would decrease unnecessary blood draws, medical evaluation, parental anxiety and burden on health care resources.
17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital ; Anxiety ; Birth Weight ; Delivery of Health Care ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Premature ; Infant, Very Low Birth Weight ; Korea ; Neonatal Screening ; Parents ; Parturition

BACKGROUND: To establish effective preventive measures for hepatitis A virus (HAV) infection, a nationwide epidemiologic study on seroprevalence of anti-HAV and the disease prevalence is needed. The aim of this study was to analyze the recent sero-epidemiological changes of hepatitis A markers in Korea. METHODS: The results of 11,068 anti-HAV total and 32,360 anti-HAV IgM tests by electro-chemiluminescence immunoassay (ECLIA) that had been requested in recent four years (2005-2008) to a reference medical laboratory from 1,699 institutions nationwide were retrospectively analyzed according to the distribution of year, sex, and age groups. RESULTS: The overall positive rate of anti-HAV total was 62.8%. The overall positive rate of anti-HAV IgM was 11.0%, showing a significantly increasing trend by year: 7.7%, 10.9%, 8.9%, and 14.3% in 2005, 2006, 2007, and 2008, respectively (P<0.0001). The positive rate of anti-HAV IgM was higher in male than in female subjects (11.8% vs 10.0%, P<0.0001), and 81.8% (2,916/3,566) of the anti-HAV IgM positive results were observed in the age groups of 21-40 yr. The annual positive rates of anti-HAV total and anti-HAV IgM showed significantly decreasing and increasing trends, respectively, in the age groups of > or =21 yr. Conclusion: In accordance with a decreasing sero-positivity of anti-HAV total, the prevalence of acute hepatitis A virus infection has been considerably increased during the recent four years in the age groups of > or =21 yr. The results of this study could be used effectively as a basic data for establishing effective preventive measures for hepatitis A including vaccination in these susceptible age groups.
Adult ; Biological Markers/blood ; Chemiluminescent Measurements ; Enzyme-Linked Immunosorbent Assay ; Female ; Hepatitis A/*epidemiology ; Hepatitis A Antibodies/*blood ; Hepatitis A virus/*immunology ; Humans ; Immunoglobulin M/blood ; Male ; Middle Aged ; Republic of Korea/epidemiology ; Retrospective Studies ; Sex Factors ; Time Factors

BACKGROUND: Decreased physical performance, such as weakened handgrip strength and cognitive decline, is associated with disability and premature death in old age. We investigated the association between handgrip strength and cognitive impairment in Korean elderly adults with normal cognitive function. METHODS: This prospective study used the database from the Korean Longitudinal Study of Ageing. The participants included 2,378 adults aged 65 years or older with normal cognitive function (Korean Mini-Mental Status Evaluation [K-MMSE] score ≥21). Using a mixed-effects model, we examined the associations at baseline and over an 8-year follow-up period between handgrip strength and K-MMSE score. We investigated handgrip strength as a predictor of change in cognitive function. RESULTS: This study included 1,138 women (mean maximum handgrip strength 19.2 kg, mean K-MMSE score 25.1) and 1,240 men (mean maximum handgrip strength 30.7 kg, mean MMSE score 26.2). The baseline handgrip strength was positively associated with the baseline K-MMSE score (β=0.18, P < 0.001). Using a mixed-effects model, we found that higher handgrip strength at baseline can predict MMSE scores positively over time (β=0.14, P < 0.001) and the change of handgrip strength over time was a predictor of high MMSE scores over the study period (β=0.01, P < 0.01). CONCLUSION: We observed significant associations between baseline handgrip strength and baseline and change of cognition, as well as the longitudinal influence of handgrip strength on the change of cognitive function in elderly Korean adults with normal cognitive function.
Adult ; Aged* ; Aging ; Cognition Disorders ; Cognition* ; Female ; Follow-Up Studies ; Hand Strength ; Humans ; Longitudinal Studies* ; Male ; Mortality, Premature ; Prospective Studies*