BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes.

Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.

The kinesin heavy chain isoform 5A (KIF5A) gene, which encodes a microtubule-based motor protein, plays an important role in the transport of organelles in the nerve cells. Mutations in the KIF5A showed a wide phenotypic spectrum from hereditary spastic paraplegia (HSP) to axonal Charcot-Marie-Tooth peripheral neuropathy type 2 (CMT2). This study identified three pathogenic KIF5A mutations in Korean CMT2 patients by whole exome sequencing.

Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.

Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.

Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many parts of the body, particularly the brain and muscles. This study examined a Korean MELAS-like syndrome patient with seizure, stroke-like episode, and optic atrophy. Target sequencing of whole mtDNA and 73 nuclear genes identified compound heterozygous mutations p.

Optimal Transducer Level for Atrial and Pulmonary Arterial Pressure Measurement in Patients with Functional Single Ventricle.

This study aimed to investigate the optimal transducer level for accurate measurement of atrial and pulmonary arterial pressures in the supine position for patients with functional single ventricle. Contrast-enhanced chest computed tomographic images of 108 patients who underwent either the bidirectional cavopulmonary shunt (BCPS) placement or the Fontan procedure were reviewed. Vertical distances from the skin of the back to the uppermost levels of fluid in the single atrium or the pulmonary artery confluence and their ratios to the greatest anteroposterior (AP) diameter of the thoracic cage were determined.

The positive duration of varicella zoster immunoglobulin M antibody test in herpes zoster.

Laboratory tests for herpes zoster (HZ) are required to confirm varicella zoster virus (VZV) infection, especially when a skin lesion is not typical or apparent. The serological test for VZV IgM antibody is simple and cost-effective; however, the change in the VZV IgM-positive rate over the time course of the disease has not been investigated. Therefore, we conducted an observational study to evaluate the positive rate of VZV IgM results during the time course of HZ and estimate the VZV IgM-positive period.

Epidural steroid injection in korean pain physicians: a national survey.

Background: Epidural steroid injection (ESI) is one of the most common procedures for patients presenting low back pain and radiculopathy. However, there is no clear consensus on what constitutes appropriate steroid use for ESIs. To investigate optimal steroid injection methods for ESIs, surveys were sent to all academic pain centers and selected private practices in Korea via e-mail.