Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis.

Carrier woman of Duchenne muscular dystrophy (DMD) can mimic the inflammatory myositis in presenting symptoms. Two diseases should be differentiated by the clinical history, muscle biopsy and genetic study. There are few reports in which both histochemical and genetic study showed the possible link of overlapping inflammatory pathophysiology with dystrophinopathy. We report a 40-yr-old woman who presented with subacute proximal muscle weakness and high serum level of creatine kinase. She had a history of Graves' disease and fluctuation of serum liver aminotransferase without definite cause. MRI, EMG and NCV were compatible with proximal muscle myopathy. Muscle biopsy on vastus lateralis showed suspicious perifascicular atrophy and infiltration of mono-macrophage lineage cells complicating the diagnosis. Dystrophin staining showed heterogeneous diverse findings from normal to interrupted mosaic pattern. Multiple ligation probe amplification and X chromosome inactivation test confirmed DMD gene deletion mutation in exon 44 and highly skewed X inactivation.

Differential diagnosis of left-sided abdominal pain: primary epiploic appendagitis vs colonic diverticulitis.

AIM: To investigate the clinical characteristics of left primary epiploic appendagitis and to compare them with those of left colonic diverticulitis. METHODS: We retrospectively reviewed the clinical records and radiologic images of the patients who presented with left-sided acute abdominal pain and had computer tomography (CT) performed at the time of presentation showing radiological signs of left primary epiploic appendagitis (PEA) or left acute colonic diverticulitis (ACD) between January 2001 and December 2011. A total of 53 consecutive patients were enrolled and evaluated. We also compared the clinical characteristics, laboratory findings, treatments, and clinical results of left PEA with those of left ACD. RESULTS: Twenty-eight patients and twenty-five patients were diagnosed with symptomatic left PEA and ACD, respectively. The patients with left PEA had focal abdominal tenderness on the left lower quadrant (82.1%). On CT examination, most (89.3%) of the patients with left PEA were found to have an oval fatty mass with a hyperattenuated ring sign. In cases of left ACD, the patients presented with a more diffuse abdominal tenderness throughout the left side (52.0% vs 14.3%; P = 0.003). The patients with left ACD had fever and rebound tenderness more often than those with left PEA (40.0% vs 7.1%, P = 0.004; 52.0% vs 14.3%, P = 0.003, respectively). Laboratory abnormalities such as leukocytosis were also more frequently observed in left ACD (52.0% vs 15.4%, P = 0.006). CONCLUSION: If patients have left-sided localized abdominal pain without associated symptoms or laboratory abnormalities, clinicians should suspect the diagnosis of PEA and consider a CT scan.

Is there a difference in the prevalence of gastroesophageal reflux disease between peritoneal dialysis and hemodialysis patients?

BACKGROUND/AIMS: Gastroesophageal reflux disease (GERD) is a common upper gastrointestinal disorder in patients with chronic kidney disease (CKD). However, little is known about the prevalence of GERD in dialysis patients. The aim of the present study was to investigate the difference in the prevalence of GERD in peritoneal dialysis and hemodialysis patients. METHODS: From July 2010 to August 2011, peritoneal dialysis patients (n=30) and hemodialysis patients (n=38) were enrolled. The prevalences of GERD were assessed at a single center with endoscopic findings and interviews using a questionnaire. Also, risk factors of GERD were evaluated. RESULTS: The prevalences of GERD in peritoneal dialysis and hemodialysis patients were 33.3% and 39.5% (p=0.748), respectively. The prevalences of erosive reflux esophagitis (ERD) in peritoneal dialysis and hemodialysis patients were 16.7% and 23.7% (p=0.477), respectively. The prevalences of nonerosive reflux disease (NERD) in peritoneal dialysis and hemodialysis patients were 16.7% and 13.2% (p=0.685), respectively. The prevalences of GERD, ERD and NERD were higher than those of the general population. The risk factor for GERD was age in hemodialysis patients. CONCLUSIONS: The prevalence of GERD in dialysis patients was higher than that in the general population. However, there was no significant difference between peritoneal dialysis and hemodialysis patients.

A comparison of three different guidelines for osteoporosis treatment in patients with rheumatoid arthritis in Korea.

BACKGROUND/AIMS: Osteoporotic fractures are an important comorbidity with rheumatoid arthritis (RA). We determined the overall fracture risk as assessed by the World Health Organization (WHO)'s FRAX® tool in Korean patients with seropositive RA. Additionally, we compared treatment eligibility according to the criteria of the Korean Health Insurance Review Agency (HIRA), FRAX, and the National Osteoporosis Foundation (NOF). METHODS: Postmenopausal women and men ≥ 50 years of age with seropositive RA were recruited from one rheumatism center in Korea. The FRAX score was estimated using the Japanese model. Patients were classified as eligible for treatment using the HIRA, NOF, and FRAX thresholds for intervention. RESULTS: The study of 234 patients included 40 men (17%). The mean age was 60 ± 9 years, and 121 (52%) patients had osteoporosis according to the WHO criteria. The overall median 10-year fracture risk was 13% for major osteoporotic fractures and 3.5% for hip fractures. HIRA guidelines identified 130 patients (56%) eligible for treatment, FRAX included 126 patients (54%), and 151 patients (65%) were included according to NOF guidelines. Older patients with a greater number of risk factors were included by FRAX compared to HIRA. The overall concordance between HIRA and FRAX, expressed as the kappa index, was 0.67, but was as low as 0.44 when limited to patients ≥ 60 years of age. CONCLUSIONS: One-half of the patients had osteoporosis requiring treatment. RA patients have a high risk of fracture, and the adoption of a risk-scoring system should be considered.