Journal of Korean medical science
-
J. Korean Med. Sci. · Jun 2018
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful in increasing the diagnostic yield in other genetic disorders with large deletions or insertions. The aim of this study was to evaluate whether the detection rate of ATP7B mutations can be increased by using MLPA. ⋯ MLPA showed a limited role to increase the mutation detection rate in children who do not receive a definite genetic diagnosis of WD through DNA full sequencing. This finding suggests that large deletions or duplications might be extremely rare in WD. Further development is needed to improve the genetic diagnosis of WD.
-
J. Korean Med. Sci. · Jun 2018
Reduction in Alpha Peak Frequency and Coherence on Quantitative Electroencephalography in Patients with Schizophrenia.
The aim of the study was to examine the characteristics of alpha wave peak frequency, power, and coherence in patients with schizophrenia. ⋯ This study focused on alpha variables detected in QEEG as intrinsic values to distinguish schizophrenia from a healthy control. The results suggest decreased alpha peak frequency of the occipital lobe and decreased coherence between the two hemispheres in patients with schizophrenia. A further study could elucidate the causal relationship and biological meaning of the variations in alpha waves in patients with schizophrenia.
-
J. Korean Med. Sci. · Jun 2018
Plasma CRABP2 as a Novel Biomarker in Patients with Non-Small Cell Lung Cancer.
Lung cancer is the most common cause of cancer-related mortality worldwide. We previously reported the identification of a new genetic marker, cellular retinoic acid binding protein 2 (CRABP2), in lung cancer tissues. The aim of this study was to assess plasma levels of CRABP2 from patients with non-small cell lung cancer (NSCLC). ⋯ Plasma CRABP2 levels might be a novel diagnostic and prognostic marker in NSCLC.
-
The Korean society is rapidly aging and the health care needs for aged people are increasing. In this context, some physicians claim to establish new medical specialty board (MSB) for geriatric medical experts but also MSB for primary medical care specialists, clinical pharmacologists, and public health experts. In Korea, basic concept for the specialty board system is still under debates and the legal support for the system is poor. ⋯ Therefore, the government must invest in the education of doctors more to improve the public health care system. The proposal of the new MSB for geriatric medicine must be gradually developed according to the national long-term health plan, social needs, and national budget for the public benefit. Please stop discussing unprepared new MSBs.
-
As job stress is associated with various diseases and psychiatric conditions, we aimed to estimate the job stress-attributable burden of disease in Korea based on the concept of disability-adjusted life years (DALY). ⋯ The present findings suggested that one-fifth of Korean workers were suffering from high job strain. Although the figures may not be accurate due to several assumptions, job stress is an important risk factor for health in working environment in Korea.