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Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome

Lee SH, Jeong JE, Jang YY, Kim JK

Purpose: This study analyzed the clinical and genetic characteristics of young children with fragile X syndrome (FXS) and evaluated the significance of FXS genetic (FX) testing for children with global...
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Cohen–Gibson syndrome in a family: The first familial case report

Kang YJ, Kim YO

Cohen–Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to...
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Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh

Rahman MM, Fatema K

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of...
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Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital

Park HS, Kim A, Shin KS, Son BR

Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in...
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Preoperative Neck Disability Severity Limits Extent of Postoperative Improvement Following Cervical Spine Procedures

Cha ED, Lynch CP, Mohan S, Geoghegan CE, Jadczak CN, Singh K

Objective: Our study aims to evaluate the impact of severity of preoperative Neck Disability Index (NDI) on postoperative patient-reported outcome measures (PROMs). Methods: A retrospective review of primary, elective, single or...
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Outcome Prediction for Patients With Ischemic Stroke in Acute Care: New Three-Level Model by Eating and Bladder Functions

Uchida K, Uchiyama Y, Domen K, Koyama T

Objective To develop a new prediction model by combining independence in eating and bladder management functions, and to assess its utility in an acute care setting. Methods Patients with ischemic stroke...
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Bone Loss and Radiographic Damage Profile in Rheumatoid Arthritis Moroccan Patients

Azzouzi H, Ichchou L

Background: Rheumatoid arthritis (RA) is a known cause of joint destruction and systemic bone loss. In this study, we aimed to evaluate the bone damage and bone loss profiles of...
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Clinical Characteristics of Sex Offenders with Pedophilia

Moon JY, Lim KO, Cho S, Jang S, Cha SM, Han S

Objectives This study compared the demographic and clinical characteristics, including blood testosterone level and intellectual capacity, between pedophilia and other types of paraphilia. Methods The medical records of 115 subjects with...
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Coexistence of Neck and Shoulder Disability: Results of a Population-Based Cross-Sectional Study on Normative Scores and Multifactorial Risk Factors for Neck and Shoulder Problems

Koller J, Bismarck C, Krebs S, Hitzl W, Mayer M, Koller H

Study Design: Cross-sectional population-based study. Purpose: The study objective was to evaluate the coexistence of neck- and shoulder-disability, to establish normative scores for Neck Disability Index (NDI), Visual Analog Scale (VAS)-neck,...
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Patient-Reported Outcomes Measurement Information System Physical Function Validation for Use in Anterior Cervical Discectomy and Fusion: A 2-Year Follow-up Study

Parrish JM, Jenkins NW, Cha ED, Lynch CP, Geoghegan CE, Mohan S, Jadczak CN, Matichak DP, Singh K

Objective: Our study aims to evaluate the correlation of Patient-Reported Outcomes Measurement Information System physical function (PROMIS PF) with legacy patient-reported outcome measures (PROMs) among patients undergoing anterior cervical discectomy...
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Prevalence, Disability, and Management Patterns of Migraine in Korea: Nationwide Survey Data from 2009 and 2018

Kim KM, Cho SJ, Shin HJ, Yang KI, Kim D, Yun CH, Chu MK

Background and Purpose Identifying changes in the prevalence, disability, and management patterns of migraine is important for reducing the burden of this disease. However, data on the changes in these...
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A Novel Scale for Assessing the Burden of Caregiving for Functionally Compromised Patients: Proposal and Validation

Kaliya-Perumal AK, Korlakunta A, Kharlukhi J, Devireddy S

Background: Disability not only burdens the patient, but also the caregiver. To quantify this caregiving burden, we propose a simple four-part questionnaire tool. Our objective is to validate this questionnaire...
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Accessibility Factors to Health Check-Ups for People with Disability: A Qualitative Study

Hong HS, Lim MJ, Kim OS, Choi ES, Kim JH

Background: The purpose of this study was to identify factors inhibiting access of people with disability to health check-ups as well as identify pertinent solutions for improvement. Methods: Twenty-three people with...
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Long-Term Care System in Japan

Yamada M, Arai H

The long-term care insurance (LTCI) system was introduced in Japan in 2000 to address the demands of older persons with disabilities based on the concept of a user-oriented social insurance...
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Cognitive Ability in Midlife and Labor Market Participation Among Older Workers: Prospective Cohort Study With Register Follow-up

Sundstrup E, Hansen , Mortensen EL, Poulsen OM, Clausen T, Rugulies R, Møller A, Andersen LL

Background: The study aimed to determine the association of individual cognitive ability in late midlife with labor market participation among older workers. Methods: This prospective cohort study estimates the risk of...
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Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report

Kim G, Moon E, Park JM, Lee BD, Lee YM, Jeong HJ, Kim SY, Lee K, Suh H

  • KMID: 2505681
  • Clin Psychopharmacol Neurosci.
  • 2020 Aug;18(3):458-462.
  • doi: esmun@hanmail.net
This case report aimed to describe various psychiatric manifestation and treatment course in a patient with DiGeorge syndrome. Psychiatric symptoms and treatment course in a female patient with DiGeorge syndrome...
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Years of Life Lost Attributable to COVID-19 in High-incidence Countries

Oh IH, Ock M, Jang SY, Go DS, Kim YE, Jung YS, Kim KB, Park H, Jo MW, Yoon SJ

Background: The coronavirus disease 2019 (COVID-19) pandemic is a major public health problem of international concern. It is important to estimate its impact of COVID-19 for health policy decision-making. We...
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Effect of a Multicomponent Intervention Program on Community-Dwelling People With Intellectual Disabilities

Kim YS, Moon JH, Hong BK, Ho SH

Objective To investigate the effectiveness of a novel and complex intervention in community-dwelling people with intellectual disabilities. Methods Forty-three participants completed the experiment. The subjects were randomly assigned the experimental (n=33)...
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Updating Disability Weights for Measurement of Healthy Life Expectancy and Disability-adjusted Life Year in Korea

Kim YE, Jo MW, Park H, Oh IH, Yoon SJ, Pyo J, Ock M

Background: The present study aimed to update the methodology to estimate cause-specific disability weight (DW) for the calculation of disability adjusted life year (DALY) and health-adjusted life expectancy (HALE) based...
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Predictors of Depression in Disability with Hearing Impairment

Jin S, Geumbo G, Cho J, Song Y

Purpose: The purpose of this study was to identify the influencing factors on Predictors of depression in disability with hearing impairment. Methods: Data from the secondary data (The 2014 National...
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