Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation,as Evidenced by Exome Sequencing

BackgroundWe describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy.ConclusionsThis is the first report of identification of COL6A1-mediated Bethlem myopathy in Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy.     

Effect of the application of a metatarsal bar on pressure in the metatarsal bones of the foot

[Purpose] The aim of this study was to determine the effect of application of a metatarsal bar on the pressure in the metatarsal bones of the foot using a foot analysis system (pressure on the forefoot, midfoot, and rearfoot). [Subjects and Methods] Forty female university students in their twenties were selected for this study, and an experiment was conducted with them as the subjects, before and after application of a metatarsal bar. The static foot regions were divided into the forefoot, midfoot, and rearfoot, and then the maximum, average, and low pressures exerted at each region were measured, along with the static foot pressure distribution ratio. 1) Static foot pressure: The tips of both feet were aligned to match the vertical and horizontal lines of the foot pressure measuring plate. The subjects were told to look toward the front and not to wear shoes. 2) Distribution ratio: The distribution ratio was measured in four regions (front, back, left, and right) using the same method as used for static foot pressure measurement. [Results] The results of this study showed that the maximum, average, and minimum static pressures in the forefoot were significantly decreased. The minimum static pressure in the midfoot was significantly increased, and the pressure in the other parts was significantly decreased. The maximum and average static pressures in the rearfoot were also significantly decreased. [Conclusion] As reduction of foot pressure with a metatarsal bar results in lowering of the arch and an increased contact surface, the foot pressure was dispersed. These results suggest that wearing shoes with a bar that can decrease the foot pressure is therapeutically helpful for patients with a diabetic foot lesion or rheumatoid arthritis.Key words: Foot pressure, Distribution ratio, Metatarsal bar     

Osteoarticular tuberculosis

Tuberculosis (Tbc) remains as a major public health problem in the world. Extrapulmonary Tbc is gaining importance and it accounts for approximately 15% of all new cases. Osteoarticular Tbc is an infrequent form of the disease, accounting for 1-5% of all cases. Joints are uncommon site of infection; therefore, peripheral Tbc is considered rare. Tbc arthritis are usually monoarticular but oligoarticular involvement are also reported. We presented here four cases with osteoarticular Tbc and reviewed the literature.     

Erectile dysfunction in patients with liver disease related to chronic hepatitis B

Background/Aims

Despite sexual function making an important contribution to the quality of life, data on erectile function are relatively scant in patients with chronic liver disease. We evaluated the prevalence of and risk factors for erectile dysfunction (ED) in patients with liver disease related to hepatitis B, especially among those with chronic hepatitis B (CHB) or early-stage cirrhosis.

Methods

In total, 69 patients (35 with CHB and 34 with hepatitis-B-related liver cirrhosis [HBV-LC]) aged 40-59 years were analyzed. Child-Pugh classes of A and B were present in 30 (88.2%) and 4 (11.8%) of the patients with HBV-LC, respectively. The erectile function of the patients was evaluated using the Korean version of IIEF-5.

Results

The prevalence of any ED was 24.6% for all patients, and 8.6% and 41.2% for those with CHB and HBV-LC, respectively (P=0.002). While there was only one (2.9%) CHB patient for each stage of ED, mild, moderate, and severe ED stages were seen in three (8.8%), one (2.9%), and ten (29.4%) of the HBV-LC patients, respectively. Multiple regression analysis identified the type of liver disease (P=0.010), hypertension (P=0.022), score on the Beck Depression Inventory (P =0.044), and the serum albumin level (P=0.014) as significant independent factors for the presence of ED.

Conclusions

The prevalence of ED was significantly higher in patients with early-stage HBV-LC than in those with CHB. Therefore, screening male patients with early viral cirrhosis for ED and providing appropriate support are needed, especially when the cirrhosis is accompanied by hypertension, depression, or a depressed level of serum albumin.