Subcutaneous abscesses caused by Trichophyton rubrum in the unilateral groin of an immunocompromised patient: A case report

A 60-year-old Japanese man presented with multiple subcutaneous nodules in his left groin. Histologically, the nodules consisted of suppurative granulomas and abscesses not involving the hair follicles. Trichophyton rubrum TWCC57922 was detected by fungal culture and polymerase chain reaction (PCR) sequencing of the rDNA genes. We diagnosed these nodules as deeper dermal dermatophytosis, a rare form of invasive dermatophytosis. He was treated with terbinafine. We compared these findings with previous reports of deep dermal dermatophytosis. Keywords: Dermatophyte infection, Deeper dermal dermatophytosis, Abscess, Granuloma, Trichophyton rubru

Laminin-guided highly efficient endothelial commitment from human pluripotent stem cells.

細胞外マトリックスを用いてヒト多能性幹細胞から高効率に血管内皮細胞の誘導に成功. 京都大学プレスリリース. 2016-11-09.Obtaining highly purified differentiated cells via directed differentiation from human pluripotent stem cells (hPSCs) is an essential step for their clinical application. Among the various conditions that should be optimized, the precise role and contribution of the extracellular matrix (ECM) during differentiation are relatively unclear. Here, using a short fragment of laminin 411 (LM411-E8), an ECM predominantly expressed in the vascular endothelial basement membrane, we demonstrate that the directed switching of defined ECMs robustly yields highly-purified (>95%) endothelial progenitor cells (PSC-EPCs) without cell sorting from hPSCs in an integrin-laminin axis-dependent manner. Single-cell RNA-seq analysis revealed that LM411-E8 resolved intercellular transcriptional heterogeneity and escorted the progenitor cells to the appropriate differentiation pathway. The PSC-EPCs gave rise to functional endothelial cells both in vivo and in vitro. We therefore propose that sequential switching of defined matrices is an important concept for guiding cells towards desired fate

Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.

Rare variations contribute substantially to autism spectrum disorder (ASD) liability. We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. To further investigate the role of CLN8 in the genetic etiology of ASD, we performed resequencing and association analysis of CLN8 with ASD in a Japanese population. Resequencing the CLN8 coding region in 256 ASD patients identified five rare missense variations: g.1719291G>A (R24H), rs201670636 (F39L), rs116605307 (R97H), rs143701028 (T108M) and rs138581191 (N152S). These variations were genotyped in 568 patients (including the resequenced 256 patients) and 1017 controls. However, no significant association between these variations and ASD was identified. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population

Novel Rare Missense Variations and Risk of Autism Spectrum Disorder: Whole-Exome Sequencing in Two Families with Affected Siblings and a Two-Stage Follow-Up Study in a Japanese Population

<div><p>Rare inherited variations in multiplex families with autism spectrum disorder (ASD) are suggested to play a major role in the genetic etiology of ASD. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in two families, each with three affected siblings. We also performed a two-stage follow-up case-control study in a Japanese population. WES of the six affected siblings identified six novel rare missense variations. Among these variations, <i>CLN8</i> R24H was inherited in one family by three affected siblings from an affected father and thus co-segregated with ASD. In the first stage of the follow-up study, we genotyped the six novel rare missense variations identified by WES in 241 patients and 667 controls (the Niigata sample). Only <i>CLN8</i> R24H had higher mutant allele frequencies in patients (1/482) compared with controls (1/1334). In the second stage, this variation was further genotyped, yet was not detected in a sample of 309 patients and 350 controls (the Nagoya sample). In the combined Niigata and Nagoya samples, there was no significant association (odds ratio = 1.8, 95% confidence interval = 0.1–29.6). These results suggest that <i>CLN8</i> R24H plays a role in the genetic etiology of ASD, at least in a subset of ASD patients.</p></div

Genomic structure of the ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (<i>CLN8</i>) gene.

<p><i>CLN8</i> spans approximately 22.9 kb and has three exons (rectangles). Black and white rectangles represent coding and untranslated regions, respectively. A horizontal arrow shows the orientation of transcription. Vertical arrows indicate locations of rare non-synonymous variations identified by resequencing.</p

Pedigrees of two families, each with three autism spectrum disorder siblings.

<p>(A) Family #1. All three siblings (II-1, II-2, and II-3) were diagnosed with Asperger’s disorder. (B) Family #2. There were four affected individuals: a proband (II-1) with Asperger’s disorder, his brother (II-2) with Asperger’s disorder, his brother (II-3) with Asperger’s disorder and borderline intellectual functioning, and their father (I-1) with pervasive developmental disorder not otherwise specified. Shaded and unshaded symbols indicate affected and unaffected individuals, respectively. Squares and circles represent males and females, respectively.</p

Clinical phenotypes of the six individuals heterozygous for <i>CLN8</i> R24H.

<p>IQ, intelligence quotient; PDD-NOS, pervasive developmental disorder not otherwise specified.</p><p>Clinical phenotypes of the six individuals heterozygous for <i>CLN8</i> R24H.</p

WES quality report summary.

<p>WES, whole-exome sequencing.</p><p>WES quality report summary.</p

Six novel rare missense variations identified by WES in two families, each with three ASD siblings.

<p>WES, whole-exome sequencing; ASD, autism spectrum disorder; GERP, Genomic Evolutionary Rate Profiling.</p><p>^aPosition according to GRCh37.</p><p>^bReference/mutant allele.</p><p>Six novel rare missense variations identified by WES in two families, each with three ASD siblings.</p