Arrhythmogenic Right Ventricular Cardiomyopathy Accompanied by Chronic Myocarditis

Patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) classically present with ventricular arrhythmias and less commonly heart failure. ARVC is an inherited cardiomyopathy and generally based on a variant of desmosomal genes. Recently, the association between myocardial inflammation and ARVC has been a matter of great concern. We encountered a patient with ARVC who had a desmoglein-2 mutation with advanced right ventricular failure accompanying a preserved left ventricular function. Concomitant right ventricular myocarditis was detected four years after the diagnosis of ARVC. ARVC and myocarditis might have a deep pathophysiological association, at least in some cases.     

Associations of circulating xanthine oxidoreductase activity with cardiometabolic risk markers in overweight and obese Japanese men: a cross-sectional pilot study

Circulating xanthine oxidoreductase (XOR) activity may contribute to the pathogenesis of obesity-related adverse cardiometabolic profiles. This pilot study aimed to examine the cross-sectional associations between plasma XOR activity and cardiometabolic risk (CMR) markers in overweight and obese men. In 64 overweight and obese Japanese men (aged 31–63 years), plasma XOR activity and several CMR markers, such as homeostasis model assessment of insulin resistance (HOMA-IR), and clustered CMR score were measured in each participant. Clustered CMR score was constructed based on waist circumference, triglyceride, blood pressure, fasting plasma glucose, and high-density lipoprotein cholesterol. Plasma XOR activity in overweight and obese men was positively associated with the body mass index, waist circumference, visceral fat area, body fat mass, hemoglobin A1c, serum 8-hydroxy-2''-deoxyguanosine, HOMA-IR, and clustered CMR score and was inversely associated with handgrip strength and high-density lipoprotein cholesterol. Multiple linear regression analysis further demonstrated that the associations of plasma XOR activity with HOMA-IR and the clustered CMR score remained significant after adjustment for covariates including uric acid. Our data demonstrate that circulating XOR activity was independently associated, albeit modestly, with HOMA-IR and the clustered CMR score. These preliminary findings suggest that circulating XOR activity can potentially be one of the preventive targets and biomarkers of cardiometabolic disorders in over­weight and obese men.     

Texture Analysis in Brain Tumor MR Imaging

Texture analysis, as well as its broader category radiomics, describes a variety of techniques for image analysis that quantify the variation in surface intensity or patterns, including some that are imperceptible to the human visual system. Cerebral gliomas have been most rigorously studied in brain tumors using MR-based texture analysis (MRTA) to determine the correlation of various clinical measures with MRTA features. Promising results in cerebral gliomas have been shown in the previous MRTA studies in terms of the correlation with the World Health Organization grades, risk stratification in gliomas, and the differentiation of gliomas from other brain tumors. Multiple MRTA studies in gliomas have repeatedly shown high performance of entropy, a measure of the randomness in image intensity values, of either histogram- or gray-level co-occurrence matrix parameters. Similarly, researchers have applied MRTA to other brain tumors, including meningiomas and pediatric posterior fossa tumors.However, the value of MRTA in the clinical use remains undetermined, probably because previous studies have shown only limited reproducibility of the result in the real world. The low-to-modest generalizability may be attributed to variations in MRTA methods, sampling bias that originates from single-institution studies, and overfitting problems to a limited number of samples.To enhance the reliability and reproducibility of MRTA studies, researchers have realized the importance of standardizing methods in the field of radiomics. Another advancement is the recent development of a comprehensive assessment system to ensure the quality of a radiomics study. These two-way approaches will secure the validity of upcoming MRTA studies. The clinical use of texture analysis in brain MRI will be accelerated by these continuous efforts.     

Pancreatic Exocrine Insufficiency in Intraductal Papillary Mucinous Carcinoma Presenting with Leg Edema Treated with Pancreatic Exocrine Replacement Therapy

An 89-year-old woman underwent examinations for leg edema. Blood tests indicated low nutrition and low pancreatic enzymes, and a stool examination indicated fatty stool. Computed tomography showed pleural effusion, ascites, and cystic lesions in the pancreatic head and mural nodules within the cysts. Pancreatic juice cytology revealed adenocarcinoma. The diagnosis was pancreatic exocrine insufficiency caused by intraductal papillary mucinous carcinoma. The patient did not wish to undergo surgery. Therefore, diuretics, component nutrients, and pancreatic exocrine replacement therapy using pancrelipase were initiated. After starting treatment, her leg edema, pleural effusion, and ascites disappeared, and her activities of daily living improved markedly.     

Combination therapy using tafamidis and neurohormonal blockers for cardiac amyloidosis and a reduced ejection fraction: a case report

Cardiac amyloidosis usually presents with diastolic dysfunction, but sometimes systolic dysfunction develops, particularly at its advanced stage. However, the therapeutic strategy for patients with cardiac amyloidosis and systolic dysfunction remains unknown. We report a 77-year-old man who was diagnosed with wild-type cardiac amyloidosis and systolic dysfunction with a left ventricular ejection fraction of 27%. Following 6-month medical therapy of tafamidis 80 mg and neurohormonal blockers (carvedilol 5.0 mg, enalapril 2.5 mg, and spironolactone 25 mg), the left ventricular ejection fraction improved to 55%. Tafamidis-incorporated neurohormonal blocker therapy might be a promising strategy to facilitate cardiac reverse remodeling in patients with cardiac amyloidosis and systolic dysfunction.     

Splenectomy for Torsion of a Wandering Spleen in a Patient with Myeloproliferative Disease

We herein report a rare case of torsion of a wandering spleen in a patient with myeloproliferative disease. A 66-year-old Japanese woman presented to our hospital with abdominal pain and a fever. She had a medical history of polycythemia and secondary myelofibrosis. Abdominal enhanced computed tomography showed an enlarged spleen without enhancement in the lower pelvic region. The clinical diagnosis was severe torsion of a wandering spleen in a patient with myeloproliferative disease, necessitating surgical intervention. Splenectomy was performed after de-rotating to revascularize the spleen. After the operation, the platelet count gradually increased, and aspirin was administered to prevent thrombosis.     

Preimplantation genetic diagnosis/screening by comprehensive molecular testing

Although embryo screening by preimplantation genetic diagnosis (PGD) has become the standard technique for the treatment of recurrent pregnancy loss in couples with a balanced gross chromosomal rearrangement, the implantation and pregnancy rates of PGD using conventional fluorescence in situ hybridization (FISH) remain suboptimal. Comprehensive molecular testing, such as array comparative genomic hybridization and next‐generation sequencing, can improve these rates, but amplification bias in the whole genome amplification method remains an obstacle to accurate diagnosis. Recent advances in amplification procedures combined with improvements in the microarray platform and analytical method have overcome the amplification bias, and the data accuracy of the comprehensive PGD method has reached the level of clinical laboratory testing. Currently, comprehensive PGD is also applied to recurrent pregnancy loss due to recurrent fetal aneuploidy or infertility with recurrent implantation failure, known as preimplantation genetic screening. However, there are still numerous problems to be solved, including misdiagnosis due to somatic mosaicism, cell cycle‐related background noise, and difficulty in diagnosis of polyploidy. The technology for comprehensive PGD also requires further improvement.     

The first recognized patient withLegionella pneumophila serogroup 9 pneumonia in Japan

A 77-year-old female was admitted because of high fever, cough and sputum. She had been receiving corticosteroid therapy for 4 years for multiple myeloma and was immunosuppressed. A physical examination on admission showed coarse crackles in the right lower lung field, a chest radiograph showed consolidation in the right middle and lower lung fields, and a blood gas analysis revealed marked hypoxemia. The patient was diagnosed as having refractory pneumonia associated with acute respiratory failure and treated with intravenous cefmetazole followed by imipenem. On hospital day 5, erythromycin therapy was started because of a poor response to the previous antibiotics. The patient became afebrile on the tenth day and was in good health on day 15. A sputum culture on day 4 revealed aLegionella organism on Wadowsky-Yee-Okuda medium, which was subsequently confirmed to beLegionella pneumophila by a DNA hybridization test. This strain was identified at the Centers for Disease Control (Atlanta, GA, USA) by slide agglutination asL. pneumophila serogroup 9. Although our patient's symptoms are not apparently different from those caused by other serogroup strains ofL. pneumophila, this is the first recognized patient with culture-provenL. pneumophila serogroup 9 pneumonia in Japan. The clinical course of the disease and the diagnostic difficulties in identifying this type of pneumonia are discussed.