Background: Alcohol consumption has been considered as a modifiable risk factor for dementia development and alcohol-related brain damage may further impair cognitive abilities in dementia patients. This study aimed to find out the differences in cognitive function according to current alcohol drinking in patients with self-perceived memory decline, including subjective cognitive decline (SCD), mild cognitive impairment (MCI) and early Alzheimer-type dementia (ATD). Methods: From May 2018 to December 2019, retrospective chart review was performed in patients who visited CHA Bundang Medical Center for cognitive decline. A two-way analysis of variance with interaction test were used to analyze the impact of alcohol consumption on cognitive function between groups. Results: A total of 147 patients was classified into three groups of SCD (n=30), MCI (n=53), and ATD (n=64), and each group was divided into two subgroups of alcohol users and alcohol non-users, according to the current status of alcohol consumption. Between SCD, MCI and ATD groups, scores of clock drawing test and Go/No-go test were significantly lower in current alcohol users of ATD groups compared to the SCD and MCI groups (p<0.05). Conclusions These results suggest that current alcohol consumption has detrimental effects especially on the frontal/executive function in early ATD patients. Considering the association between frontal/executive function and ADL, our finding suggests that cessation of alcohol intake may be a therapeutic strategy to prevent ADL deterioration in patients with ATD.

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.

Objectives: To identify the clinical utility of the Korean version of the Barkley Deficits in Executive Functioning Scale (K-BDEFS) assessing executive functioning. Methods: The patient group included 144 adult attention-deficit/hyperactivity disorder (ADHD) patients visiting the Adult ADHD Outpatient Clinic of the National Center for Mental Health. Adult ADHD Self-Report Scale version 1.1, Mini International Neuropsychiatric Interview, and K-BDEFS were used. The control subjects were 144 age, sex, and education-matched general adults who participated in the study of the validity of the K-BDEFS in Samsung Medical Center. Results: An analysis of the mean total K-BDEFS score, executive functioning symptom count, and ADHD-executive function (EF) index score revealed a significant difference between the adult ADHD and control group (p<0.05). Five subscales of the K-BDEFS, which assess the specific domains of the executive function, revealed a significant difference between the ADHD group and control group (p<0.05). The area under curve (AUC) of the K-BDEFS total score, the EF symptom count, and the ADHD-EF index were 0.943, 0.949, and 0.908, respectively, in the analysis using the receiver operating characteristic curve. All AUC values were over 0.90. Therefore, KBDEFS is a reliable and valid screening instrument for diagnosing adult ADHD. In an assessment of the sensitivity and specificity of the cutoff scores, a cutoff of 183.5 points for the K-BDEFS total score, 26.5 points for the EF symptom count, and 23.5 points for the ADHD-EF index showed a reliable sensitivity and specificity above 80%. Conclusion To the best of the authors’ knowledge, this is the first study to examine the predictive validity and clinical utility of K-BDEFS in adult ADHD. The results suggest that the K-BDEFS could be used as a valid and reliable tool for the diagnosis and clinical intervention of adult ADHD.

OBJECTIVE: The aim of this study was to compare the performance of the 18-item Korean version of the World Health Organization adult attention-deficit/hyperactivity disorder self-report scale (ASRS) with the six-item ASRS Screener for predicting attention-deficit/hyperactivity disorder (ADHD) group. METHODS: The study sample included 51 adult patients with ADHD and 158 normal controls. All participants completed the ASRS and were interviewed individually using the Mini-International Neuropsychiatric Interview. Receiver operating characteristic (ROC) curves were used to compare the ASRS (ASRS-18) with the ASRS Screener (ASRS-6) in Korean samples. RESULTS: The ADHD group had higher ASRS and ASRS subscale scores than those of the control group. ROC curve analysis revealed the ASRS was more powerful to predict ADHD group than the ASRS Screener, but the ASRS Screener also had strong concordance with clinician diagnoses. CONCLUSION: This study shows that the 18-question ASRS outperforms the six-question ASRS Screener. However, the weighted Screener is also a valid and useful screening instrument both in epidemiological surveys and in clinical settings.
Adult* ; Diagnosis ; Humans ; Mass Screening ; ROC Curve ; World Health Organization

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

BACKGROUND: Critical illness that requires major surgery is often associated with non-thyroidal illness syndrome (NTIS). The characteristic feature of NTIS is low serum triiodothyronine (T3) levels, and in severe illness, the levels of serum thyroxine (T4) are also low in the absence of a rise in thyroid stimulating hormone (TSH). However, little is known about the changes in thyroid hormones during and after liver transplantation (LT). This study was conducted in order to evaluate the intra- or postoperative changes in thyroid hormones. METHODS: Twenty-two patients who underwent LT were enrolled. Serum levels of triiodothyronine (T3), thyroxine (T4), thyroid stimulating hormone (TSH), free T3 (FT3) and free T4 (FT4) were measured immediately after the induction of anesthesia (T1), at the end of the anhepatic period (T2), at the end of the surgical procedure (T3), and at 24 hours (T4) and 120 hours postoperatively (T5). RESULTS: The mean levels of T3, T4, FT3, FT4 and TSH were significantly decreased throughout the study when compared with the T1 value. The mean levels of T3, T4 FT3 and TSH were below the normal range from T2, T4 and T5. CONCLUSIONS: We suggest that LT may induce NTIS by at least postoperative day 5. In the future, longer follow-up studies, and the effects of thyroid hormones on the prognosis and determination of the advantages and disadvantages of T3 replacement therapy to these patients will be required.
Anesthesia ; Critical Illness ; Euthyroid Sick Syndromes ; Humans ; Liver Transplantation* ; Prognosis ; Reference Values ; Thyroid Hormones* ; Thyrotropin ; Thyroxine ; Triiodothyronine

BACKGROUND/AIMS: To investigate the rate of detection of monosodium urate (MSU) crystals in the synovial fluid (SF) of patients with acute gouty arthritis and factors associated with false-negative results. METHODS: A total of 179 patients with acute gouty arthritis who had undergone SF crystal examination were identified from the data warehouse of two university hospitals. Clinical and laboratory data were obtained from the medical records. RESULTS: The overall rate of detection of MSU crystals was 78.8%. In univariate analyses, the only significant differences between the variables of crystal-negative and crystal-positive patients were a lower C-reactive protein level (p = 0.040) and fewer patients undergoing emergent surgery in the crystal-positive group (p = 4.5 x 10(-6)). In logistic regression analyses, MSU crystal-negative results were significantly associated with the interval from arthritis onset to crystal examination (p = 0.042), and this was the most significant risk factor for arthroscopic surgery (p = 2.1 x 10(-4)). Seventeen patients who underwent arthroscopic surgery had a significantly longer hospital stay (p = 0.007) and a significant delay in gout treatment (p = 8.74 x 10(-5)). The distribution of crystal-negative patients differed significantly between the SF samples that were evaluated by both the laboratory medicine and the rheumatology departments (p = 1.2 x 10(-14)), and the kappa value was 0.108. CONCLUSIONS: Although several clinical features were associated with detection failure, SF MSU crystal identification was critically dependent on the observer. Considering the impact on the treatment outcomes, implementation of a quality control program is essential.
Acute Disease ; Aged ; Arthritis, Gouty/diagnosis/*metabolism/*surgery ; Arthroscopy ; Biological Markers/metabolism ; Crystallization ; False Negative Reactions ; Female ; Hospitals, University ; Humans ; Length of Stay ; Logistic Models ; Male ; Microscopy, Polarization ; Middle Aged ; Observer Variation ; Predictive Value of Tests ; Reproducibility of Results ; Republic of Korea ; Retrospective Studies ; Synovial Fluid/*metabolism ; Time Factors ; Time-to-Treatment ; Treatment Outcome ; Uric Acid/*metabolism

The aim of this study was to develop a reliable dietary questionnaire to assess human exposure to food-borne hazards. Eleven food-borne hazards were chosen as a priority control list through a literature review and advisory committees. The 11 food-borne hazards were phthalate, aflatoxin, bisphenol A, polycyclic aromatic hydrocarbons, dioxin, polychlorinated biphenyls, mercury, lead, cadmium, arsenic, and acrylamide. The characteristics, exposure level, and paths of these hazards were reviewed, and questionnaire items were identified to assess human exposure from the literature. A questionnaire was developed for each selected food based on its characteristics. Based on the items in the individual questionnaires, a comprehensive questionnaire, which contained demographic characteristics, job information, socioeconomic factors, health related lifestyles, and dietary behaviors, was developed. A 99-item food frequency questionnaire (FFQ) to assess food-borne hazard exposure was also developed. The FFQ included frequency of food intake during the previous year, container type for purchasing and storing food, and cooking method. The questionnaire developed in this study could be applied to assess dietary factors during an exposure assessment of food-borne hazards in a large population. A validation study for the questionnaire is needed before applying it to surveys.
Acrylamide ; Advisory Committees ; Aflatoxins ; Arsenic ; Benzhydryl Compounds ; Cadmium ; Cooking ; Eating ; Humans ; Life Style ; Phenols ; Phthalic Acids ; Polychlorinated Biphenyls ; Polycyclic Hydrocarbons, Aromatic ; Surveys and Questionnaires ; Socioeconomic Factors

Syphilis is re-emerging worldwide due to the HIV epidemic. Prior to the introduction of penicillin, syphilis was the second most common primary cause of all cases of uveitis. Today, ocular syphilis is a rare disease, especially in an immunocompetent patient. Variable manifestation without pathognomonic signs of ocular syphilis often lead to delayed diagnosis, resulted in irreversibile loss of vision. In Korea, syphilitic uveitis has not been reported in an immunocompetent patient since 1984. We experienced a case of syphilitic uveitis in an immunocompetent man with visual deterioration. As the incidence of syphilis is increasing in these days, a high degree of clinical suspicion should be considered in patients with unexplained ocular inflammation and visual disturbances.
Delayed Diagnosis ; HIV ; Humans ; Incidence ; Inflammation ; Korea ; Penicillins ; Rare Diseases ; Syphilis ; Uveitis ; Vision, Ocular

Actinomyces normally colonizes the mouth, colon, and vagina. Although disruption of mucosa may lead to infection at virtually any site, central nervous system actinomycosis is rare. A 45-year-old man presented with seizure and magnetic resonance imaging showed brain abscess. He was diagnosed with actinomycotic and streptococcal infection of brain by histologic and microbiologic examination. After stereotactic aspiration and biopsy, he was treated successfully by prolonged antibiotic therapy using intravenous penicillin-G and oral amoxicillin.
Actinomyces ; Actinomycosis ; Amoxicillin ; Biopsy ; Brain ; Brain Abscess ; Central Nervous System ; Colon ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Mouth ; Mucous Membrane ; Seizures ; Streptococcal Infections ; Vagina