Journal of Korean medical science
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In the early diagnosis of dementia, an important factor is the evaluation of activities of daily living. The Everyday Cognition (ECog) scale was developed to measure functional changes that are the everyday correlates of specific neuropsychological impairments. This study aimed to examine the validity of the Korean version of Everyday Cognition (K-ECog). ⋯ K-ECog is proven reliable and valid for clinical use. K-ECog can be used to distinguish very early stages of impaired ADL and cognitive impairment in the community.
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J. Korean Med. Sci. · Mar 2019
Prognostic Value of Admission Blood Glucose Level in Critically Ill Patients Admitted to Cardiac Intensive Care Unit according to the Presence or Absence of Diabetes Mellitus.
Admission blood glucose (BG) level is a predictor of mortality in critically ill patients with various conditions. However, limited data are available regarding this relationship in critically ill patients with cardiovascular diseases according to diabetic status. ⋯ Admission BG level was associated with increased CICU mortality in critically ill, non-diabetic patients admitted to CICU but not in diabetic patients.
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J. Korean Med. Sci. · Mar 2019
Erratum: Correction of Title: Impact of Day 14 Peripheral Blood Chimerism after Allogeneic Hematopoietic Stem Cell Bone Transplantation on the Treatment Outcome of Non-Malignant Disease.
[This corrects the article e46 in vol. 34, PMID: 30787679.].
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J. Korean Med. Sci. · Mar 2019
Case ReportsDiagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to motor neuron degeneration. We identified an infant with SMARD1 by targeted exome sequencing from a consanguineous Syrian family having a history of recurrent infant deaths. The patient initially presented intrauterine growth retardation, poor sucking, failure to thrive, and respiratory failure at the age of two months, and an inborn error of metabolism was suspected at first. ⋯ Using targeted exome sequencing, the mutation in IGHMBP2 was confirmed, although the first report was normal. Targeted exome sequencing enabled identification of the genetic cause of recurrent mysterious deaths in the consanguineous family. Additionally, it is suggested that a detailed phenotypic description and communication between bioinformaticians and clinicians is important to reduce false negative results in exome sequencing.