Malignant peripheral nerve sheath tumor of the transverse colon with peritoneal metastasis: a case report

Malignant peripheral nerve sheath tumors are malignant tumors arising from a peripheral nerve or displaying nerve sheath differentiation. Gastrointestinal malignant peripheral nerve sheath tumors are rare and ...

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British Association of Dermatologists guidelines for the safe and effective prescribing of oral ciclosporin in dermatology 2018

Abstract

The overall objective of the guideline is to provide up‐to‐date, evidence‐based recommendations for the safe and effective use of oral ciclosporin in the field of dermatology. The document aims to:

offer an appraisal of all relevant literature since 1970 focusing on any key developments

address important, practical clinical questions relating to the primary guideline objective

provide guideline recommendations and, where appropriate, with some health economic implications

discuss potential developments and future directions

The guideline is presented as a detailed review with highlighted recommendations for practical use in the clinic (see section 14), in addition to an updated Patient Information Leaflet (PIL; available on the BAD website, www.bad.org.uk/leaflets).

This article is protected by copyright. All rights reserved.

http://bit.ly/2AQU0mu

Long non‐coding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus

Abstract

Background

Pemphigus foliaceus (PF) is an epidermal autoimmune disease, characterized by the presence of autoantibodies against the desmosomal protein desmoglein 1. Genetic and environmental factors contribute to PF, a complex disease that is endemic in Brazil and Colombia and neighbouring countries, and in Tunisia. Long non‐coding RNAs (lncRNAs) may participate in gene regulation by interacting with DNA, proteins, and other RNAs. Dysregulation of lncRNAs has recently been recognized as an important co‐player in the onset or progression of complex diseases. In addition, single‐nucleotide polymorphisms (SNP) located in lncRNA genes have been associated with differential risk to cancer, autoimmunity and infection.

Objectives

Here, we aimed to investigate whether SNPs in lncRNA genes are associated with differential susceptibility to endemic PF.

Methods

We integrated data from the lncRNASNP database with genome‐wide genotype data obtained for 229 patients and 6,681 controls. We tested the association between endemic PF and 2,080 SNPs located in lncRNAs applying logistic regression.

Results

The most significantly associated SNP was rs7144332 (OR = 1·63, P = 2·8 x 10^‐6), located in the lncRNA gene AL110292·1. Results for other five SNPs were suggestive of association (P < 0·001). In silico analysis indicated that five of the six SNPs impact transcription, four may influence lncRNA secondary structure, and three of them may alter microRNA‐lncRNA interactions.

Conclusion

We showed, for the first time, that variation in lncRNA genes may influence pemphigus pathogenesis. Our findings highlight the importance of lncRNA variation in autoimmune and possibly other complex diseases and suggest polymorphisms for functional validation.

This article is protected by copyright. All rights reserved.

http://bit.ly/2SZCfs7

ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation

http://bit.ly/2ATAbuW

Angiokeratomas, not everything is Fabry disease

Abstract

Introduction

Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals.

Methods and Case

We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Additionally, we reviewed the cases of healthy subjects illustrating the limitations of each case and comparing these results with our case.

Discussion

Angiokeratoma corporis diffusum is mostly related to Fabry disease and other lysosomal storage disorders. However, some cases may occur in apparently healthy individuals. Therefore, there is a increasing interest in its etiology, pathogenesis and clinical evaluation.

Conclusion

This is an academic–clinical review on angiokeratomas and their main implications in daily dermatological practice. Additionally, we report the first case in the literature of angiokeratoma corporis diffusum in a healthy patient with up‐to‐date laboratory methods currently available. The clinician should remember that not all angiokeratoma corporis diffusum occurs with lysosomal storage disorders.

http://bit.ly/2SWey48

Smartphone wallpapers for dermoscopy training in medical students and residents

Abstract

Background

Several dermoscopy training programs have found the accuracy of dermoscopy examination depends on adequate training of practitioners. Smartphones are readily available and time‐efficient tools for dermoscopy training.

Aim

To evaluate the learning efficacy of utilizing dermoscopy smartphone wallpapers to train medical students, PGY (postgraduate year)‐1 trainees, and junior dermatological residents without prior dermoscopy training.

Methods

We designed smartphone wallpapers with dermoscopy pictures and features of several common melanocytic and nonmelanocytic conditions. Pretests and posttests were performed before and after a 10‐day‐long smartphone wallpaper training program to evaluate their diagnostic accuracy using dermoscopy images.

Results

Significant progressions were noted between the pretest and posttest scores both in the nonmelanocytic (P < 0.001) and the melanocytic (P = 0.003) sections. Medical students and PGY‐1 trainees demonstrated more significant improvement in nonmelanocytic lesions, compared to dermatology residents. Residents of dermatology showed more progression in the melanocytic section than nonresidents.

Limitations

There were limited participants. The frequency and time allotted by each participant in perusing the wallpapers were variable. Further study of the application on clinical practice is still needed.

Conclusion

Smartphone wallpapers training improves dermoscopic interpretation significantly in medical students, PGY‐1 trainees, and dermatological residents. The background knowledge of dermatology has an effect on the degree of improvement in the training course.

http://bit.ly/2AQDbYI

Perimarginal lymph nodes: an undervalued entity in oral cancer

Abstract

Purpose

In a previous study, we gave a surgical description of a group of lymph nodes in the submandibular area at risk of remaining undissected during neck dissection (ND) for which we have proposed the term "perimarginal nodes" (PMNs) due to their proximity to marginal mandibular nerve (MMN). The aim of this study is to evaluate prevalence of PMNs involvement in oral cavity squamous cell cancer (OCSCC) and to verify if metastases are related to primary tumor characteristics or to the state of the neck.

Methods

We recruited a total of 39 consecutive patients diagnosed with OCSCC candidate to ND. Histological characteristics of PMNs were analyzed and the incidence of metastases in relation to the primary tumor characteristics were noted.

Results

PMNs were found to be involved with metastases in 8 patients (20.5%). No characteristic of the primary tumor seems to influence the metastatic involvement of the PMNs.

Conclusions

PMNs represent a frequent site of micro-metastases in patients diagnosed with OCSCC regardless of other characteristics of the primary tumor.

http://bit.ly/2QTowRW