Generalized pustular psoriasis (GPP) is a rare, severe, neutrophilic skin disease characterized by episodes of widespread eruption of sterile, visible pustules, which can occur with or without systemic inflammation and with or without plaque psoriasis. 1,2 GPP is associated with potentially life-threatening systemic complications including sepsis and cardiac failure, and is described by the Japan Ministry of Health as an intractable disease. [1][2][3][4] Mutations in IL36RN, CARD14, or AP1S3 have been found in patients with GPP. 5,6 Small Japanese studies have identified a number of different IL36RN mutations in patients with GPP. [7][8][9] Patients with these mutations may be at risk of earlier onset of disease and more severe disease. 10 Indeed, one small study (n = 31 patients with GPP)

Introduction Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). Methods A cross-sectional analysis of clinical data from a multi-institutional, international CINRG DMD Natural History Study of 340 DMD patients aged 2 to 28 years. Cardiomyopathy was defined as shortening fraction (SF) <28% or ejection fraction (EF) <55%. Results 231 participants reported a prior clinical echocardiogram study, and 174 had data for SF or EF. The prevalence of cardiomyopathy was 27% (47/174), and it was significantly associated with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P>0.68). In patients with cardiomyopathy, 57 % (27/47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15/127) of patients without cardiomyopathy. Discussion Echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort.

Ultrasound has shown promise as a visual feedback tool in speech therapy. Rural clients, however, often have minimal access to new technologies. The purpose of the current study was to evaluate consultative treatment using ultrasound in rural communities. Two speech-language pathologists (SLPs) trained in ultrasound use provided consultation with ultrasound in rural British Columbia to 13 school-aged children with residual speech impairments. Local SLPs provided treatment without ultrasound before and after the consultation. Speech samples were transcribed phonetically by independent trained listeners. Eleven children showed greater gains in production of the principal target /[image omitted]/ after the ultrasound consultation. Four of the seven participants who received more consultation time with ultrasound showed greatest improvement. Individual client factors also affected outcomes. The current study was a quasi-experimental clinic-based study. Larger, controlled experimental studies are needed to provide ultimate evaluation of the consultative use of ultrasound in speech therapy.

We evaluated the long-term efficacy of prednisolone (PSL) therapy for prolonging ambulation in Japanese patients with genetically confirmed Duchenne muscular dystrophy (DMD). There were clinical trials have shown a short-term positive effect of high-dose and daily PSL on ambulation, whereas a few study showed a long-term effect. Especially in Japan, “real-life” observation was lacking. We utilized the national registry of muscular dystrophy in Japan for our retrospective study. We compared the age at loss of ambulation (LOA) between patients in PSL group and those in without-PSL group. Out of 791 patients’ in the Remudy DMD/BMD registry from July 2009 to June 2012, 560 were matched with inclusion criteria. Of the 560, all were genetically confirmed DMD patients, 245 (43.8 %) of whom were treated with PSL and 315 (56.2 %) without PSL. There was no difference between the two groups regarding their mutational profile. The age at LOA was significantly greater (11 month on average) in the PSL group than in the without-PSL group (median, 132 vs. 121 months; p = 0.0002). Although strictly controlled clinical trials have shown that corticosteroid therapies achieved a marked improvement in ambulation, discontinuation of the drug due to intolerable side effects led to exclusion of clinical trial participants, which is considered as unavoidable. In our study, patients were not excluded from the PSL group, even if they discontinued the medication shortly after starting it. The results of our study may provide evidence to formulate recommendations and provide a basis for realistic expectations for PSL treatment of DMD patients in Japan, even there are certain limitations due to the retrospectively captured data in the registry.