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Desmoglein

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https://www.readbyqxmd.com/read/28417991/esophageal-and-small-intestinal-mucosal-integrity-in-eosinophilic-esophagitis-and-response-to-an-elemental-diet
#1
Marijn J Warners, Berber J Vlieg-Boerstra, Joanne Verheij, Patricia H P van Hamersveld, Bram D van Rhijn, Marleen T J Van Ampting, Lucien F Harthoorn, Wouter J de Jonge, Andreas J P M Smout, Albert J Bredenoord
OBJECTIVES: The esophageal mucosal integrity is impaired in eosinophilic esophagitis (EoE) and it has been suggested that the duodenal permeability is increased. The absence of food allergens may restore the integrity. The aims of this study were to assess duodenal permeability in EoE and to evaluate the effect of an elemental diet on the esophageal and duodenal integrity. METHODS: In this prospective study 17 adult EoE patients and 8 healthy controls (HC) were included...
April 18, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28400637/comparison-of-immunofluorescence-and-desmoglein-enzyme-linked-immunosorbent-assay-in-the-diagnosis-of-pemphigus-a-prospective-cross-sectional-study-in-a-tertiary-care-hospital
#2
Deepthi Ravi, S Smitha Prabhu, Raghavendra Rao, C Balachandran, Indira Bairy
BACKGROUND: Pemphigus is an acquired immunobullous disorder in which antibodies are directed against epidermal cadherins. Despite the commercial availability and less cost of enzyme-linked immunosorbent assays (ELISAs) to detect antidesmoglein 1 (Dsg1) and anti-Dsg3, immunofluorescence is still widely used for confirmation of diagnosis. AIMS: (1) To compare the usefulness of indirect immunofluorescence (IIF) and ELISA tests in the diagnosis of pemphigus. (2) To find the clinical correlation between the tests and severity of the disease...
March 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28392652/paraneoplastic-pemphigus-associated-with-a-malignant-thymoma-a-case-of-persistent-and-refractory-oral-ulcerations-following-thymectomy
#3
Jung Min Lim, Sang Eun Lee, Jimyung Seo, Do Young Kim, Takashi Hashimoto, Soo-Chan Kim
Paraneoplastic pemphigus is a rare, life-threatening autoimmune mucocutaneous blistering disease associated with underlying neoplasia, commonly lymphoproliferative tumors. Herein we report a case of paraneoplastic pemphigus with a unique autoantibody profile associated with a malignant thymoma. A 56-year-old female patient presented with relapsing oral ulcerations accompanied by erythematous papules and patches on her extremities for 2 months. Skin and mucosal biopsies identified interface dermatitis with lichenoid lymphocytic infiltration in the upper dermis...
April 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28368538/combined-deletion-of-the-vitamin-d-receptor-and-calcium-sensing-receptor-delays-wound-re-epithelialization
#4
Yuko Oda, Lizhi Hu, Thai Nguyen, Chak Fong, Chia-Ling Tu, Daniel D Bikle
When the skin is injured, keratinocytes proliferate, migrate, and differentiate to regenerate the epidermis. We recently showed that ablation of the vitamin D receptor (Vdr) in keratinocytes delays wound re-epithelialization in mice also fed a low calcium diet, implicating a cooperative role of Vdr and calcium signaling in this process. In this study we examined the role of vitamin D and calcium signaling in wound healing by deleting their receptors, Vdr and the calcium sensing receptor (Casr). Gene expression profiling of neonatal epidermis lacking both Vdr and Casr (DKO) specifically in keratinocytes revealed that DKO affects a number of pathways relevant to wound healing including Vdr, β-catenin and adherens junction signaling...
March 22, 2017: Endocrinology
https://www.readbyqxmd.com/read/28366912/low-dose-rituximab-as-an-adjuvant-therapy-in-pemphigus
#5
Jaya Gupta, Ranjan C Raval, Arti N Shah, Rekha B Solanki, Dhara D Patel, Kaksha B Shah, Ami D Badheka, Keyur B Shah, Neetish K Aggarwal, Vaaruni Ravishankar
BACKGROUND: Pemphigus is a chronic autoimmune blistering disease where systemic steroids and immunosuppressants are the mainstay of therapy, but long-term treatment with these agents is associated with many side effects. Rituximab, a chimeric monoclonal anti-CD20 antibody, in low doses has shown efficacy as an adjuvant to reduce the dose of steroids. AIM: To study the clinical efficacy and safety of low-dose rituximab as an adjuvant therapy in pemphigus. METHODS: Fifty patients with extensive pemphigus were selected, who either had recalcitrant pemphigus, were steroid dependent, had relapsed after pulse therapy, had anti-desmoglein levels >20, had contraindications to conventional treatment or wanted to avoid conventional treatment and its side effects...
March 29, 2017: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/28342216/case-of-bullous-pemphigoid-coexisting-with-anti-desmoglein-autoantibodies
#6
Duerna Tie, Tokiko Yoshida, Yuko Chinuki, Xia Da, Noriyoshi Ishikawa, Eishin Morita
A 79-year-old Japanese woman had clinical and histopathological features of bullous pemphigoid, while direct immunofluorescence test revealed C3 and immunoglobulin G depositions in the lower cell surfaces of the epidermis in addition to those in the dermoepidermal junction. Chemiluminescent enzyme immunoassays were positive for desmoglein-1 and -3 antibodies in addition to anti-BP180 antibodies. In an immunoblotting study, antibodies against both 180-kDa bullous pemphigoid antigen and 130-kDa pemphigus vulgaris antigen were detected...
March 24, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28339476/transgenic-mice-overexpressing-desmocollin-2-dsc2-develop-cardiomyopathy-associated-with-myocardial-inflammation-and-fibrotic-remodeling
#7
Andreas Brodehl, Darrell D Belke, Lauren Garnett, Kristina Martens, Nelly Abdelfatah, Marcela Rodriguez, Catherine Diao, Yong-Xiang Chen, Paul M K Gordon, Anders Nygren, Brenda Gerull
BACKGROUND: Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder leading to ventricular arrhythmias and heart failure, mainly as a result of mutations in cardiac desmosomal genes. Desmosomes are cell-cell junctions mediating adhesion of cardiomyocytes; however, the molecular and cellular mechanisms underlying the disease remain widely unknown. Desmocollin-2 is a desmosomal cadherin serving as an anchor molecule required to reconstitute homeostatic intercellular adhesion with desmoglein-2...
2017: PloS One
https://www.readbyqxmd.com/read/28323918/elucidating-the-role-of-the-desmosome-protein-p53-apoptosis-effector-related-to-pmp-22-perp-in-growth-hormone-tumors
#8
Katja Kiseljak-Vassiliades, Taylor S Mills, Yu Zhang, Mei Xu, Kevin O Lillehei, B K Kleinschmidt-DeMasters, Margaret E Wierman
Purpose: Densely granulated (DG) and sparsely granulated (SG) growth hormone (GH) pituitary adenomas differ in biological behavior which may be correlated with their known differences in cytoplasmic keratin distribution and E-cadherin expression. We desired to explore candidate genes which might further explain this behavior. Methods: Exon expression microarray was performed on 21 GH tumors (10 SG and 11 DG) and 20 normal control pituitaries from autopsy. Results: Bioinformatic analyses confirmed a differential molecular signature between normal pituitary and GH tumors as well as between the GH tumor subtypes...
February 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28321152/th1-th17-related-cytokines-and-chemokines-and-their-implications-in-the-pathogenesis-of-pemphigus-vulgaris
#9
Rodolfo Pessato Timoteo, Marcos Vinicius da Silva, Camila Botelho Miguel, Djalma Alexandre Alves Silva, Jonatas Da Silva Catarino, Virmondes Rodrigues Junior, Helioswilton Sales-Campos, Carlo Jose Freire Oliveira
Pemphigus vulgaris (PV) is an autoimmune disease characterized by the presence of IgG autoantibodies against desmoglein-3. Despite the variety of findings, the chemokine and cytokine profiles that characterize the immune response in the disease are still poorly explored. Thus, 20 PV patients and 20 controls were grouped according to gender, ethnicity, place of residence, and clinical parameters of the disease. Then, the levels of chemokines and of Th1/Th2/Th17/Treg/Th9/Th22-related cytokines were assessed in the serum...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28300855/longitudinal-tracking-of-autoantibody-levels-in-a-pemphigus-vulgaris-patient-support-for-a-role-of-anti-desmoglein-1-autoantibodies-as-predictors-of-disease-progression
#10
Nadia Y Abidi, Irene Lainiotis, Gretchen Malikowski, Kristina Seiffert-Sinha, Animesh A Sinha
Anti-desmoglein (Dsg) 1 and -Dsg3 antibody titers have an established role in the diagnosis of the autoimmune blistering skin disease pemphigus vulgaris (PV). However, their usefulness for disease monitoring has been controversial. A recent large-scale immunoprofiling study by our group indicated that anti-Dsg1 levels may be a better predictor of disease activity than anti-Dsg3 levels, with declining levels predicting progression from active phase of disease to early remission, irrespective of lesional subtypes...
February 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28299823/monilethrix-in-monozygotic-twins-with-very-rare-mutation-in-krt-86-gene
#11
B Nedoszytko, Z Lewicka-Potocka, A Szczerkowska-Dobosz, J Gleń, B Bykowska, J Świątecka-Czaj, R Nowicki
Monilethrix is a heretitary disorder, characterized by abnormal hair shafts with nodes and narrow internodes [1], typically caused by autosomal dominant mutations in type II hair keratin genes KRT 81, KRT 83 and KRT 86 [2-8]. Rarely, autosomal recessive mutation in desmoglein 4 gene may be responsible for the disease [9,10]. Among affected family members, symptoms may vary from almost normal scalp to alopecia, moreover the severity of the disease may change during patient life. This article is protected by copyright...
March 16, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28297154/pemphigus-vulgaris-and-eosinophilic-esophagitis-in-a-13-year-old-boy-case-report-and-review-of-the-literature
#12
Sumant Gue, Gwendolyn Huang, Lynette Moore, Paul Hammond, Christina A Boros
This case report presents a 13-year-old boy referred to the Department of Paediatric Dentistry, Women's and Children's Hospital, Adelaide, South Australia, Australia, with a 5-week history of severe oral ulcerations and significant weight loss of unknown origin. The diagnosis of pemphigus vulgaris was made after histologic and immunofluorescent examination of an intraoral deep incisional biopsy, with eosinophilic esophagitis also diagnosed during the initial upper gastrointestinal endoscopy. The association between pemphigus vulgaris and eosinophilic esophagitis in this case, although previously unreported, is explicable on the basis of dysregulation of desmoglein 1 (DSG1)...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28289018/adrenergic-signaling-strengthens-cardiac-myocyte-cohesion
#13
Camilla Schinner, Franziska Vielmuth, Vera Rötzer, Matthias Hiermaier, Mariya Radeva, Thu K Co, Eva Hartlieb, Andreas Schmidt, Axel Imhof, Ahmed Messoudi, Anja Horn, Angela Schlipp, Volker Spindler, Jens Waschke
Rationale: The sympathetic nervous system is a major mediator of heart function. Intercalated discs (ICDs) composed of desmosomes, adherens junctions and gap junctions provide the structural backbone for coordinated contraction of cardiac myocytes. Objective: Gap junctions dynamically remodel to adapt to sympathetic signaling. However, it is unknown whether such rapid adaption also occurs for the adhesive function provided by desmosomes and adherens junctions. Methods and Results: Atomic force microscopy revealed that β-adrenergic signaling enhances both the number of desmoglein 2 (Dsg2) -specific interactions along cell junctions and the mean Dsg2-mediated binding forces, whereas N-cadherin-mediated interactions were not affected...
March 13, 2017: Circulation Research
https://www.readbyqxmd.com/read/28283360/phenotypic-expression-of-arvc-how-12-lead-ecg-can-predict-left-or-right-ventricle-involvement-a-familiar-case-series-and-a-review-of-literature
#14
Luca Gaido, Alberto Battaglia, Mario Matta, Carla Giustetto, Simone Frea, Massimo Imazio, Elena Richiardi, Lucia Garberoglio, Fiorenzo Gaita
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart-muscle disease primarily affecting the right ventricle (RV) and potentially causing sudden death in young people. The natural history of the disease is firstly characterized by a concealed form progressing over a biventricular involvement. Three different cases coming from the same family are presented together with a review of the literature. METHODS AND RESULTS: Multi-parameter analysis including imaging and electrocardiographic analysis is presented since the first medical referral with follow-up ranging from 11 to 38years...
June 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28277619/loss-of-desmoglein-2-promotes-tumorigenic-behavior-in-pancreatic-cancer-cells
#15
Katharina Hütz, Julian Zeiler, Lena Sachs, Steffen Ormanns, Volker Spindler
The ability to maintain cell-cell adhesion is crucial for tissue integrity and organization. Accordingly, loss of cohesiveness plays a critical role in cancer invasion and metastasis. Desmosomes are cell junctions providing strong intercellular adhesive strength and dysregulation of desmosomal constituents contributes to cancer progression through altered cell signaling pathways. Here, we focused on the desmosomal adhesion molecules Desmoglein 2 (Dsg2) and Desmocollin 2 (Dsc2), and their contribution to migration and invasion in pancreatic cancer cells...
March 9, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28261028/accuracy-of-molecular-diagnostics-in-pemphigus-and-bullous-pemphigoid-comparison-of-commercial-and-modified-mosaic-indirect-immunofluorescence-tests-as-well-as-enzyme-linked-immunosorbent-assays
#16
Justyna Gornowicz-Porowska, Agnieszka Seraszek-Jaros, Monika Bowszyc-Dmochowska, Elżbieta Kaczmarek, Paweł Pietkiewicz, Paweł Bartkiewicz, Marian Dmochowski
INTRODUCTION: Pemphigus and bullous pemphigoid (BP) are identified by autoantibodies (abs) against desmoglein 1, 3 (DSG1/3) and BP180/BP230, respectively. A novel mosaic to indirect immunofluorescence (IIF) using purified BP180 recombinant proteins spotted on slide and transfected cells expressing BP230, DSG1, DSG3 is available. The commercial (IgG detection) and modified (IgG4 detection) mosaic for indirect immunofluorescence (IIFc - IIF commercial, IIFm - IIF modified) and IgG ELISAs were evaluated in pemphigus and bullous pemphigoid (BP) molecular diagnostics...
February 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28256248/whole-exome-sequencing-identifies-a-novel-mutation-of-desmocollin-2-in-a-chinese-family-with-arrhythmogenic-right-ventricular-cardiomyopathy
#17
Ji-Shi Liu, Liang-Liang Fan, Jing-Jing Li, Rong Xiang
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, including Desmoplakin, Plakophilin 2, Desmoglein 2, Desmocollin 2, and Junction plakoglobin...
February 10, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28238749/persistent-kallikrein-5-activation-induces-atopic-dermatitis-like-skin-architecture-independent-of-par2-activity
#18
Yanan Zhu, Joanne Underwood, Derek Macmillan, Leila Shariff, Ryan O'Shaughnessy, John I Harper, Chris Pickard, Peter S Friedmann, Eugene Healy, Wei-Li Di
BACKGROUND: Upregulation of kallikreins (KLKs) including KLK5 has been reported in atopic dermatitis (AD). KLK5 has biological functions that include degrading desmosomal proteins and inducing proinflammatory cytokine secretion through protease-activated receptor 2 (PAR2). However, due to the complex interactions between various cells in AD inflamed skin, it is difficult to dissect the precise and multiple roles of upregulated KLK5 in AD skin. OBJECTIVE: We investigated the effect of upregulated KLK5 on the expression of epidermal-related proteins and cytokines in keratinocytes and on skin architecture...
February 24, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28216725/autoantibodies-other-than-anti-desmogleins-in-pemphigus-vulgaris-patients
#19
Marwah Adly Saleh, Hedayat Salem, Hoda El Azizy
BACKGROUND: Pemphigus vulgaris (PV) is an immunoglobulin G-mediated autoimmune bullous skin disease. Nonorgan-specific antibodies were detected in Tunisian and Brazilian pemphigus patients with different prevalence. MATERIALS AND METHODS: Fifty PV patients and fifty controls were screened for antinuclear antibodies (ANAs), anti-smooth muscle antibodies (ASMAs), anti-parietal antibodies (APAs), anti-mitochondrial antibodies, and Anti-nuclear cytoplasmic antibodies (ANCA) by indirect immunofluorescence...
January 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28211055/pemphigus-a-pathomechanism-of-acantholysis
#20
REVIEW
Masutaka Furue, Takafumi Kadono
Autoantibodies to the desmosomal proteins desmoglein 1 and 3 cause pemphigus foliaceus and pemphigus vulgaris, which are characterised by keratinocyte dissociation (acantholysis) and intraepidermal blister formation. The passive transfer of pathogenic anti-desmoglein antibodies induces blisters in mice in vivo and the loss of keratinocyte adhesion in vitro. The pathogenetic mechanisms of acantholysis due to anti-desmoglein autoantibodies are not fully understood. However, recent studies have revealed that signalling-dependent and signalling-independent pathways are operative in the loss of cell adhesion...
February 17, 2017: Australasian Journal of Dermatology
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