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We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails. Sequence analysis of LMX1B gene identified a novel heterozygous de novo mutation within exon 2, pathogenetic for a nail-patella syndrome.

Multiple system atrophy (MSA) is a fatal neurodegenerative disease that belongs to the family of α-synucleinopathies. At post mortem examination, intracellular inclusions of misfolded α-synuclein are found in neurons and oligodendrocytes and are considered to play a significant role in the pathogenesis. However, the early steps of the disease process are unknown and difficult to study in tissue derived from end-stage disease.

Induced pluripotent stem cells (iPSCs) were generated from patients' and control skin fibroblasts and differentiated into NCAM-positive neural progenitor cells (NPCs). The mitochondrial morphology and function were assessed by immunocytochemistry and high resolution respirometry. The ability to cope with exogenous oxidative stress was tested by exposure to different doses of luperox. The expression of α-synuclein was studied by immunocytochemistry.

We identified increased tubulation of mitochondria with preserved respiration profile in MSA-derived NPCs. Exposure of these cells to eMSA-derived NPCs supports an early cellular stress response which may precede the neurodegenerative process in this disorder.

The h-index is a measure of research achievement. Individuals with similar h-indices should be equivalent in terms of scientific impact. However, this value is inherently biased toward fields with higher visibility and readership. To utilize the power of h-indices in predicting future research success and as a benchmark for academic advancement, niche fields like pediatric dermatology must be examined independently.

Publicly available data were examined. A list of current pediatric dermatologists were obtained from the Society for Pediatric Dermatology's member directory. The following demographic information was obtained fellowship certification year, PhD status, prior pediatric residency training, state/region, practice setting, academic appointment, number of publications, and h-index. Descriptive and analytic statistics were calculated.

A total of 317 pediatric dermatologists were included. Practice setting distribution was as follows 54.3% academic, 32.5% non-academic, and 13.3% combined. KPT-8602 ic50 H-index differed significantly based on pediatric dermatology certification year (P<.001), increasing as time from certification increased. Those in academics had higher h-indices than those in both non-academic and combined practice settings (P<.001 and .007, respectively). Professors (25.0) had higher h-indices than associate professors (11.0), who had higher h-indices than assistant professors (4.4) (P<.001).

H-index increased with increasing academic rank and was highest among those working in academics. For pediatric dermatologists considering application for promotion, the h-index for each level can serve as a useful benchmark to guide decision-making.

H-index increased with increasing academic rank and was highest among those working in academics. For pediatric dermatologists considering application for promotion, the h-index for each level can serve as a useful benchmark to guide decision-making.Homocysteine is a sulfhydryl-containing amino acid that is derived from dietary methionine, and there has been increasing evidence that elevated plasma homocysteine levels are associated with increased risk of central and peripheral vascular disorders, including carotid, coronary and peripheral arterial diseases, and Raynaud's phenomenon. Recently, associations of plasma homocysteine levels with autoimmune diseases such as systemic lupus erythematodes and systemic sclerosis have been reported. However, no study analyzed the association between plasma homocysteine levels and dermatomyositis (DM). The objective of this study was to examine plasma homocysteine levels and their clinical associations in patients with DM. Plasma homocysteine levels in 28 Japanese patients with DM and 22 healthy controls were examined. We found that the plasma homocysteine levels in DM patients were significantly higher than those in healthy individuals (15.8 ± 1.1 vs 8.5 ± 0.5 µmol/L, P less then 0.01). Presence of mechanic's hand, complication of interstitial lung disease (ILD), high serum Krebs von den Lungen-6 (KL-6), surfactant protein-D and creatine kinase levels, and anti-aminoacyl-tRNA synthetase (ARS) antibody (Ab) positivity were significantly more prevalent among DM patients with elevated plasma homocysteine levels. The plasma homocysteine levels in DM patients with mechanic's hand, ILD and anti-ARS Ab were significantly higher than those in DM without those features. Furthermore, the plasma homocysteine levels were positively correlated with serum KL-6 levels. These results suggest that the pathogenesis of elevated plasma homocysteine levels may be associated with ILD in DM patients, especially with anti-ARS Ab, and further examination is required.

To evaluate the contribution of applying the theoretical framework of implementation science for adherence to non-pharmacological interventions to prevent delirium.

A quasi-experimental prospective design was conducted from March 2017 to October 2018 in a teaching hospital. Participants included 149 healthcare staff and 72 elderly inpatients. A non-pharmacological delirium prevention program was designed, applied and evaluated in accordance with the consolidated framework for advancing implementation research (CFIR). The primary outcome was the global adherence rate to 12 predefined indicators, comparing measurements at baseline (O1), after training (O2) and at a 6-month follow-up (O3) assessed by an external reviewer. Staff knowledge and beliefs about delirium were assessed using a validated tool, and delirium incidence was evaluated using the confusion assessment method.

Overall adherence increased from 58.2% (O1) to 77.9% (O2) and 75.6% (O3) (O2 vs. O1 p < 0.001 and O3 vs. O1 p < 0.001). Staff perceptions regarding implementation of non-pharmacological interventions increased from 74.

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