‘Is nitrogen mustard contamination responsible for the reported MT-45 toxicity?’ Reply from the authors

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PASH syndrome a disease with genetic heterogeneity

PASH syndrome is a clinical entity associating pyoderma gangrenosum (PG), severe acne and hidradenitis suppurativa (HS)¹. Absence of pyogenic sterile arthritis (PA) distinguishes PASH syndrome from PAPASH and PAPA syndromes which associate PA in combination with PG, severe acne with or without HS, respectively^2,3. Mutations in PSTPIP1 (proline-serine-threonine-phosphatase interacting protein 1) gene were identified in patients with PAPA and PAPASH syndromes, although genetic heterogeneity was observed in PAPA syndrome^2,3. Loss-of-function mutations in the y-secretase genes, Nicastrin (NCSTN), Presenilin Enhancer-2 (PSENEN), and Presenilin-1 (PSEN1), have been reported in a small proportion of HS patients^4,5.

This article is protected by copyright. All rights reserved.

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Random Skin Biopsy in the Diagnosis of Intravascular Lymphoma

Abstract

Intravascular lymphoma (IVL) is a relatively rare type of non-Hodgkin lymphoma (NHL). IVL is characterized by selective growth of large lymphoma cells within small blood vessels. IVL is most often B-cell type, and only rarely found to be T-cell type^1–3 or NK-cell type.

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Myxoid variant of primary cutaneous Anaplastic Large Cell Lymphoma: first two cases.

Abstract

Anaplastic large cell lymphoma (ALCL) is a CD30+ T-cell non-Hodgkin lymphoma with two main clinical presentations: primary cutaneous (pcALCL) and systemic (sALCL). While rare cases of myxoid sALCL have been reported, there are no previous cases of myxoid pcALCL reported. We present two unusual cases of pcALCL showing prominent collections of dermal mucin closely intermingling with the anaplastic lymphocytes. Patient 1 was a 30-year-old woman who presented with ulcerated nodules on her neck, abdomen, chest, and shoulders. A systemic lymphoma was excluded by physical examination, positron emission tomography and computed tomography (PET-CT) scan, as well as by bone marrow biopsy and flow cytometry studies. The patient was closely followed up for 10 months without evidence of systemic involvement. The biopsy showed diffuse infiltration of the dermis by a CD2+, CD30+, ALK-negative ALCL. Patient 2 was a 55-year-old woman who presented with a single nodule on her right arm. A systemic lymphoma was excluded by physical examination as well as by a PET-CT scan. The biopsy showed diffuse and dense lymphoid infiltration of the whole biopsy by a CD3+, CD4+, CD30+, ALK-negative ALCL. The atypical lymphocytes were intermingled with large amounts of dermal stromal mucin.

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Superficial Papular Neuroma: Case Series of a New Entity R2

Abstract

Background

Dermal neural lesions arise in various circumstances and may be difficult to classify.

Methods

We describe the clinical, histopathologic and immunophenotypic features of a series of terminally-differentiated neural lesions not described previously, to our knowledge.

Results

Four cases from men aged 58–66 years were included. Some lesions reportedly bled, but no inciting trauma or prior biopsies were reported. None recurred after biopsy, with follow-up ranging from 19 to 113 months. All lesions were papular, with vertically-oriented S100-positive spindled cells and nerve fibers in the papillary dermis. Slight epidermal hyperplasia, dilated superficial thin-walled vessels and minimal to mild inflammation were seen in each. Fibers were uniformly fine in three cases, with slightly thicker central fibers in the fourth. Three had parakeratotic scale. None were associated with dermal fibrosis or adnexal proliferation. Neurofilament stained axons in each. EMA was negative in all cases. CD34, melan-A and HMB45 were negative when performed.

Conclusions

We report a small series of benign neural lesions and propose the name "superficial papular neuroma" for this distinct entity. Awareness is important to understand the clinical significance of these lesions and avoid misinterpretation that could lead to overtreatment, unnecessary work-up and increased cost.

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Microsurgical reconstruction of pharyngoesophageal defects—case series and critical review of the literature

Abstract

Background

The reconstructive goals after laryngopharyngoesophagectomy are the reestablishment of the digestive conduit, achievement of adequate swallowing, and voice restoration. The pharyngoesophageal segment is typically reconstructed with a jejunal or a fasciocutaneous free flap. The gastro-omental free flap offers unique advantages in high-risk surgical fields. The best reconstructive option is still a matter of controversy. A retrospective study was conducted to assess the morbidity and functional results of microsurgical pharyngoesophageal reconstructions performed at our institution in the last 16 years and compare them with the literature.

Methods

A retrospective review was conducted on patients who underwent pharyngoesophageal microsurgical reconstruction between 1999 and 2016 at a single institution. The perioperative morbidity, mortality, and functional outcomes were evaluated and compared with similar published case series.

Results

A total of 14 free flap reconstructions were performed, after pharyngolaryngoesophagectomy or pharyngoesophageal radionecrosis. Patients received jejunal, radial forearm, gastro-omental, or anterolateral thigh flaps. There was one flap failure and one perioperative death. The rates of stricture and fistula were 8.3 and 16.7%, respectively. Oral diet was achieved in all patients and 71% have been considered to have an intelligible speech. At 1-year post-op, 71.4% of the patients were alive and the 3-year survival rate was 35.7%.

Conclusions

The reconstruction of the pharyngoesophageal segment requires safe, reliable, and functional single-stage solutions. Fasciocutaneous flaps seem to provide better functional results and allow a shorter hospital stay, while enteric flaps appear to be more reliable in adverse surgical fields.

Level of Evidence: Level IV, therapeutic study.

http://ift.tt/2ruXunS

Molar incisor hypomineralization: proportion and severity in primary public school children in Graz, Austria

Abstract

Objective

The aim of this study was to determine the proportion and severity of molar incisor hypomineralization (MIH) in primary school children in Graz (southeast of Austria).

Materials and methods

In 1111 children aged 6 to 12 years (mean age 9.0 ± 1.2), a wet examination of all teeth was performed by three trained examiners using a dental chair, optimal illumination, a dental mirror, and a dental explorer. All teeth with MIH lesions were registered so that different definitions of MIH were applicable. According to the European Academy of Pediatric Dentistry criteria that were considered valid at the time of the investigation, MIH was diagnosed when at least one first primary molar (FPM) was affected.

Results

MIH was present in 78 children (7.0%). In 64 children (5.8%), at least one molar and one incisor were affected (so-called M + IH). Additionally, in 9 children, only incisors were affected. In 7 affected children, teeth other than FPMs and incisors had MIH lesions. Almost an equal number of males (38) and females (40) were affected. The upper and lower molars were equally affected. The upper incisors were more frequently affected than the lower ones. Demarcated enamel opacities were the predominant types of defects.

Conclusion

The proportion of MIH was 7.0% in Graz, which is similar to other comparable trials.

Clinical relevance

This study has proven that MIH is an existing dental problem in Graz.

http://ift.tt/2sJ917w

Reference standards for next-generation sequencing

Technical errors can hamper the interpretation of next-generation sequencing (NGS) data, which poses a major challenge for the clinical application of this technology. This Review discusses how reference standards circumvent this issue by calibrating NGS measurements and evaluating diagnostic performance of NGS-based genetic tests.

http://ift.tt/2sG3AoQ

From basal cell morphogenesis to the alopecia induced by hedgehog inhibitors: connecting the dots

Summary

The deciphering of the hedgehog (Hh) signaling pathway implicated in the tumorigenesis of basal cell carcinoma (BCC), led to the development of targeted drug therapies, e.g. the hedgehog pathway inhibitors (HPI), vismodegib and sonidegib. In the skin, physiologic Hh signaling is activated in growing hair follicles, where it is required for proliferation of the epithelium of hair follicles during morphogenesis and for their postnatal growth. The effects of HPI treatment leading to the regression of BCC and the development of alopecia, underpin the central role of the Hh pathway in BCC formation as well as hair cycling. Given the fact that BCC is a follicular- driven tumor, it is a fine tuning of events that regulate hair cycling, that may drive towards the formation of benign follicular hamartomas or malignant BCC neoplasms. The Wnt/β-catenin signaling interacts with the Hh signaling during HF morphogenesis, normal hair cycling and BCC development. The aim of this review is to present how key molecular events implicated in Hh pathway crosstalk in the hair follicle are also involved in BCC pathogenesis and result in the alopecia developed by HPI treatment.

This article is protected by copyright. All rights reserved.

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Oral ofloxacin and clindamycin as an alternative to the classic rifampicin/clindamycin in hidradenitis suppurativa: retrospective analysis of 65 patients

Rifampicin/Clindamycin (RC) combination is recommended as first line therapy in moderate to severe Hidradenitis Suppurativa (HS) by European S1 guidelines (1–3), notably because a large variety of microorganisms have been isolated from HS lesions: most represented bacteria appear to be Staphylococcus aureus, Coagulase negative staphylococci (CoNS) and anaerobic bacteria from normal skin flora. It has been hypothesized that these bacteria could play a central role in the initiation and maybe in the maintenance of HS lesions, possibly by being a source of antigens in a dysregulated immune response.

This article is protected by copyright. All rights reserved.

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Letter to the Editor concerning the article “Long term complications of Stevens-Johnson syndrome/Toxic epidermal necrolysis: The spectrum of chronic problems in patients who survive an episode of SJS/TEN necessitates multi-disciplinary follow up

We read with great interest, the review paper by Lee et al. on the long term complications of Stevens-Johnson syndrome and toxic epidermal necrolysis. We would like to congratulate the authors on this important and excellent overview. This review demonstrated that SJS/TEN has a severe, chronic phase with major physical morbidities. We wish to raise awareness to the major emotional complications among survivors; as was found in our study published in the British Journal of Dermatology by Dodiuk-Gad et al.

This article is protected by copyright. All rights reserved.

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The importance of risk communication and documentation for patients with cutaneous adverse drug reactions

We read with interest Teo et al.'s recently published article examining cutaneous adverse drug reactions (cADR) referred to an inpatient liaison dermatology service.¹ The authors assessed the number and types of cADR encountered and subsequent documentation.¹ The diagnosis and management of cADR has been recognised by NICE Guidelines on Drug Allergy as a high-priority area for quality improvement.² We commend Teo and colleagues¹ for examining an essential, yet often overlooked, component of health service quality. We would like to further highlight the importance of risk communication, documentation and patient-centred care, aspects that are imperative for severe cADR.

This article is protected by copyright. All rights reserved.

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Familial seborrhoeic keratosis associated with multiple “pure reticulated acanthomas” and infundibulocystic basal cell carcinomas

Abstract

Background

A variety of genodermatoses with multiple cutaneous tumors with germline genetic alterations such as Gorlin syndrome with PTCH1 gene mutations have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis.

Objective

We describe the clinical, dermoscopic, and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis. In addition, we tested for possible germline alterations in the FGFR3 and PTCH1 genes.

Methods

Ten members of one family were clinically examined. Ninety-two skin biopsy specimens were evaluated. Blood samples from six subjects were analyzed for FGFR3 and PTCH1 germline alterations. We review the literature concerning genetic FGFR3 alterations in seborrhoeic keratosis.

Results

Subjects of all generations affected by familial seborrhoeic keratosis also presented other skin tumors which corresponded histologically to reticulated acanthomas without apocrine or sebaceous differentiation as well as infundibulocystic basal cell carcinomas. In addition, two novel germline variants, p.Pro449Ser (c.1345C>T) in FGFR3 gene and p.Pro725Ser (c.2173C>T) in exon 14 of PTCH1 gene were identified in five subjects.

Conclusion

We characterize for the first time the clinical, dermoscopic and histopathological features of multiple reticulated acanthomas without apocrine or sebaceous differentiation, for which we propose the term "pure reticulated acanthoma", and infundibulocystic basal cell carcinomas, associated with familial seborrhoeic keratosis. We identified FGFR3 and PTCH1 germline polymorphisms whose influence in the development of reticulated acanthomas is unknown.

This article is protected by copyright. All rights reserved.

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Survey Datasets on the externalizing behaviors of primary school pupils and secondary school students in some selected schools in Ogun State, Nigeria

Publication date: Available online 16 June 2017
Source:Data in Brief
Author(s): Sheila A. Bishop, Enahoro A. Owoloko, Hilary I. Okagbue, Pelumi E. Oguntunde, Oluwole A. Odetunmibi, Abiodun A. Opanuga
This data article contains the partial analysis (descriptive statistics) of data obtained from 1770 primary school pupils and secondary school students in three Local Government Areas of Ogun State, Nigeria. The schools are either privately owned or public (government owned) schools. The aim of the field survey is to measure the level and patterns of externalizing behavior of the respondents. The data was collected using a standardized questionnaire. The questionnaire is a modification of Achenbach manual for Child behavior checklist (Achenbach, 2001) [1] and manual for Youth self-report (Achenbach, 2001) [2]. The questionnaire was designed to suit the demographic and socio-cultural nature of the target population. Analysis of the data can provide useful insights to the patterns of externalizing behavior of primary school pupils and secondary school students.



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Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

Related Articles

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

Case Rep Endocrinol. 2017;2017:3905905

Authors: Brar PC, Dingle E, Pappas J, Raisingani M

Abstract
We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).

PMID: 28620554 [PubMed]

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Assembling of bis(tpy)fluorenes with Zn2+ and Fe2+ ions into metallo-supramolecular polymers with highly efficient white-light emission

Publication date: Available online 17 June 2017
Source:Polymer
Author(s): Martin Hrma, Kristýna Šichová, Jan Svoboda, Jiří Vohlídal
Three fully π-conjugated bisterpyridines with fluorene unit in the central block were synthetized using the Suzuki–Miyaura coupling and transformed to corresponding conjugated metallo-supramolecular polymers (MSPs) with Zn²⁺ or Fe²⁺ ions. Assembling course of MSPs was investigated by absorption and emission spectroscopy, size-exclusion chromatography and viscometric measurements. Two systems with Zn²⁺ ions showed white emission with high quantum yields of fluorescence. The constitutional dynamics of Zn-polymers is fast while that of Fe-polymers is as slow that it allows effective separation of the polymer in SEC columns. Electronic spectra and SEC measurements proved that excess of Fe²⁺ ions results in their end-capping by these ions and shortening of the polymer chains. The phenomenon of shortening of the polymer chains by surplus of metal ions was additionally confirmed by viscometry measurements for both ion-couplers, which provides us new awareness about the length of MSPs with Zn²⁺ ions.

Graphical abstract

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Preparation, morphology and gas permeation properties of carbon dioxide-selective vinyl acetate-based Polymer/Poly(ethylene oxide-b-amide 6) blend membranes

Publication date: Available online 17 June 2017
Source:Polymer
Author(s): Mahdi Abdollahi, Morteza Khoshbin, Hossein Biazar, Ghader Khanbabaei
Blend membranes based on the Pebax 1657 and polyvinyl acetate (PVAc) or VAc/dibutyl maleate copolymer (P(VAc-co-DBM)) were prepared via solution casting. SEM micrographs did not show any phase separation in the macro-scale. FT-IR results showed that hydrogen bonding of NH groups with carbonyl groups in the polyamide (PA) microphases or ether groups in the poly(ethylene oxide) (PEO) microphases changes towards hydrogen bonding of NH groups with the VAc-based polymers in the blends. Melting temperature and crystallinity of the both PA and PEO microphases as well as the glass transition temperature of the PEO microphase decreased by adding VAc-based polymers. It was found that P(VAc-co-DBM) copolymer chains in the blend membrane containing 50 wt% copolymer have almost a similar tendency towards both PA and PEO microphases, while those in the blend membranes containing copolymer content lower than 50 wt% are mostly located between PA microphases. It was also deduced from DSC thermograms that a separate phase of VAc-based copolymer can be formed in the membranes containing copolymer content more than 20 wt%. Despite decreased CO2 permeability, selectivity of CO2/CH4 improved significantly from 17.6 for pure Pebax to 37.5 for a blend with 30 wt% copolymer. Results obtained from permeability test revealed that in the blends containing similar amounts of VAc-based polymers, the effect of the PVAc homopolymer is far more than that of the P(VAc-co-DBM) copolymer.

Graphical abstract

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Bio-based episulfide composed of cardanol/cardol for anti-corrosion coating applications

Publication date: Available online 17 June 2017
Source:Polymer
Author(s): Jie Lv, Zhuoyu Liu, Jie Zhang, Jizhen Huo, Yingfeng Yu
Bio-based materials from Cardanol/cardol with episulfide group (CCES) and epoxy group (CCEO) were synthesized and further blended with commercial bisphenol-A diglycidyl ether type epoxy resin (DGEBA) for anti-corrosion coating application. The curing behavior of CCEO and CCES confirmed that episulfide exhibited a faster curing rate and higher curing conversion than epoxide. Anticorrosion properties of composite system CCEO/CCES and DGEBA were also carried out. Equilibrium water content of CCES-DGEBA blend was much lower than neat DGEBA and CCEO-DGEBA composite system in water absorption test, which met agreement with that CCES-DGEBA blend system revealed better adhesive to the metal compared with DGEBA and CCEO-DGEBA blend in lap sheer strength assessment. Further, CCES-DGEBA blend with 20 wt% of CCES exhibited optimized performance in corrosion resistance as it possessed the higher impedance modulus at low frequencies in EIS bode plots, lowest corrosion current and the highest corrosion voltage in Tafel test.

Graphical abstract

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The influences of a novel shear layer-spherulites layer alternated structure on the mechanical properties of injection-molded isotactic polypropylene

Publication date: Available online 17 June 2017
Source:Polymer
Author(s): FengYi Hou, DaShan Mi, Man Zhou, Jie Zhang
In general, the strength of injection molded objects increases with shear layer thickness or shish-kebab content. However, the effect of the change of the position of shear layer and spherulites layer on the mechanical properties is still unclear, when their thickness are fixed. To answer this question, a novel multilayer structure in which the shear layer mainly containing shish-kebab structure and spherulites layer consisted of spherulites stack alternatively was prepared by a self-designed multi-flow vibration injection molding (MFVIM) device. The results demonstrate that the impact strength can be enhanced significantly by such alternating structure, possibly because this structure is benefit for crack deflection and consequently induces more plastic deformation regions, through altering stress transfer direction and stress distribution. The tensile strength, however, is only affected little by such structure.

Graphical abstract

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Ribosomes Dance to a Daily Rhythm

Publication date: Available online 17 June 2017
Source:Trends in Biochemical Sciences
Author(s): Aishwarya Iyer, Ingrid Grummt
Sinturel et al. demonstrate that feeding–fasting rhythms and light–dark cycles direct daily changes in liver mass and cell size. These feeding–fasting- and light–dark-driven diurnal fluctuations are controlled by an unconventional mechanism that affects ribosome assembly and protein levels during the active phase.



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Forked Columellar Strut: An Adjunctive Technique for Correction of Caudal Septal Deviation

No abstract available

http://ift.tt/2s920wD