Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea. Recently, we encountered three unrelated Korean patients with MM and two of them have previously been considered as having a type of inflammatory myopathy. The clinical and laboratory evaluation showed typical features of muscle involvement in MM in all patients but one patient initially had moderate proximal muscle involvement and another showed incomplete quadriparesis with rapid progression. Direct sequencing analysis of the DYSF gene revealed that each patient had compound heterozygous mutations (Gln832X and Trp992Arg, Gln832X and Trp999Cys, and Lys1103X and Ile1401HisfsX8, respectively) among which three were novel. Although MM has been thought to be quite rare in Korea, it should be considered in a differential diagnosis of patients exhibiting distal myopathy

A Case of Postoperative Tuberculous Spondylitis with a Bizarre Course

Postoperative infections following spine surgery are usually attributable to bacterial organisms. Staphylococcus aureus is known to be the most common single pathogen leading to this infection, and the number of infections caused by methicillin-resistant Staphylococcus aureus is increasing. However, there is a paucity of literature addressing postoperative infection with Mycobacterium tuberculosis. We encountered a case of tuberculous spondylitis after spine surgery. A man had fever with low back pain three weeks after posterior interbody fusion with instrumentation for a herniated intervertebral disc at the L4-L5 level. He had been treated with antibiotics for an extended period of time under the impression that he had a bacterial infection, but his symptoms and laboratory data had not improved. Polymerase chain reaction for Mycobacterium tuberculosis turned out to be positive. The patient's symptoms finally improved when he was treated with antituberculosis medication

A Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis

Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade. Its characteristic magnetic resonance imaging (MRI) findings have been described as demyelination predominantly in the frontal lobe. Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. The disease can now be detected by genetic diagnosis. We report the Korean case of an 8-month-old male patient with AD. He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI. Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine

Basal Cell Carcinoma on the Pubic Area: Report of a Case and Review of 19 Korean Cases of BCC from Non-sun-exposed Areas

Basal cell carcinoma (BCC) is one of the most commonly diagnosed malignant skin tumors and develops characteristically on sun-exposed areas, such as the head and neck. Ultraviolet light exposure is an important etiologic factor in BCCs, and BCCs arising from non-sun- exposed areas are, therefore, very rare. In particular, the axilla, nipple, the genital and perianal areas are not likely to be exposed to ultraviolet light; thus, if BCC develops in these areas, other predisposing factors should be considered. Herein, we report a case of BCC arising on the pubic area in a 70-year-old man. We also performed a survey of the literature and discussed the 19 cases of BCC from non-sun-exposed areas reported to date in Korea

Subchronic inhalation toxicity of gold nanoparticles

<p>Abstract</p> <p>Background</p> <p>Gold nanoparticles are widely used in consumer products, including cosmetics, food packaging, beverages, toothpaste, automobiles, and lubricants. With this increase in consumer products containing gold nanoparticles, the potential for worker exposure to gold nanoparticles will also increase. Only a few studies have produced data on the <it>in vivo </it>toxicology of gold nanoparticles, meaning that the absorption, distribution, metabolism, and excretion (ADME) of gold nanoparticles remain unclear.</p> <p>Results</p> <p>The toxicity of gold nanoparticles was studied in Sprague Dawley rats by inhalation. Seven-week-old rats, weighing approximately 200 g (males) and 145 g (females), were divided into 4 groups (10 rats in each group): fresh-air control, low-dose (2.36 × 10⁴particle/cm³, 0.04 μg/m³), middle-dose (2.36 × 10⁵particle/cm³, 0.38 μg/m³), and high-dose (1.85 × 10⁶particle/cm³, 20.02 μg/m³). The animals were exposed to gold nanoparticles (average diameter 4-5 nm) for 6 hours/day, 5 days/week, for 90-days in a whole-body inhalation chamber. In addition to mortality and clinical observations, body weight, food consumption, and lung function were recorded weekly. At the end of the study, the rats were subjected to a full necropsy, blood samples were collected for hematology and clinical chemistry tests, and organ weights were measured. Cellular differential counts and cytotoxicity measurements, such as albumin, lactate dehydrogenase (LDH), and total protein were also monitored in a cellular bronchoalveolar lavage (BAL) fluid. Among lung function test measurements, tidal volume and minute volume showed a tendency to decrease comparing control and dose groups during the 90-days of exposure. Although no statistically significant differences were found in cellular differential counts, histopathologic examination showed minimal alveoli, an inflammatory infiltrate with a mixed cell type, and increased macrophages in the high-dose rats. Tissue distribution of gold nanoparticles showed a dose-dependent accumulation of gold in only lungs and kidneys with a gender-related difference in gold nanoparticles content in kidneys.</p> <p>Conclusions</p> <p>Lungs were the only organ in which there were dose-related changes in both male and female rats. Changes observed in lung histopathology and function in high-dose animals indicate that the highest concentration (20 μg/m³) is a LOAEL and the middle concentration (0.38 μg/m³) is a NOAEL for this study.</p