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Hailey-Hailey disease

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https://www.readbyqxmd.com/read/30530595/characterization-of-mauritian-cynomolgus-macaque-fc%C3%AE-r-alleles-using-long-read-sequencing
#1
Amelia K Haj, Jaren M Arbanas, Aaron P Yamniuk, Julie A Karl, Hailey E Bussan, Kenneth Y Drinkwater, Michael E Graham, Adam J Ericsen, Trent M Prall, Kristina Moore, Lin Cheng, Mian Gao, Robert F Graziano, John T Loffredo, Roger W Wiseman, David H O'Connor
The FcγRs are immune cell surface proteins that bind IgG and facilitate cytokine production, phagocytosis, and Ab-dependent, cell-mediated cytotoxicity. FcγRs play a critical role in immunity; variation in these genes is implicated in autoimmunity and other diseases. Cynomolgus macaques are an excellent animal model for many human diseases, and Mauritian cynomolgus macaques (MCMs) are particularly useful because of their restricted genetic diversity. Previous studies of MCM immune gene diversity have focused on the MHC and killer cell Ig-like receptor...
December 10, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/30517779/afamelanotide-in-the-treatment-of-dermatologic-disease
#2
Morgan M McNeil, Amanda F Nahhas, Taylor L Braunberger, Iltefat H Hamzavi
Afamelanotide, an α-melanocyte stimulating hormone analogue, has become an emerging therapeutic option for a variety of skin conditions previously refractory to other treatments. Its efficacy has been demonstrated in several dermatologic conditions, including erythropoietic protoporphyria (EPP), solar urticaria, polymorphic light eruption (PMLE), vitiligo, acne, and Hailey-Hailey disease. Its relatively low risk side effect profile makes it an attractive treatment option and also paves the way for innovative use in other disorders...
November 2018: Skin Therapy Letter
https://www.readbyqxmd.com/read/30506709/altered-levels-of-focal-adhesion-and-extracellular-matrix-receptor-interacting-proteins-were-identified-in-hailey-hailey-disease-by-quantitative-itraq-proteome-analysis
#3
Dingwei Zhang, Jia Huo, Ruilian Li, Yanfei Zhang, Zhenghui Wang, Xiaoli Li
Benign chronic familial pemphigus or Hailey-Hailey disease (HHD, OMIM 169600) is a rare, autosomal dominant blistering skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. To date, the proteomic changes in skin lesions from HHD patients has not been reported yet. In this study, a sample of skin lesions from HHD patients was collected for isobaric tags for relative and absolute quantitation to analyze proteome changes compared with unaffected individuals. The 134 differentially expressed proteins were assigned to at least one Gene Ontology term, and 123 annotated proteins with significant matches were assigned to 187 known metabolic or signaling pathways listed in the Kyoto Encyclopedia of Genes and Genomes...
December 3, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/30484835/utility-of-naltrexone-treatment-for-chronic-inflammatory-dermatologic-conditions-a-systematic-review
#4
Chloe Ekelem, Margit Juhasz, Pooja Khera, Natasha Atanaskova Mesinkovska
Importance: Dermatology is encountering increasing rates of autoimmune disease manifesting in primary skin conditions that are difficult to treat without a risk of immunosuppression. Naltrexone is an orally active opioid antagonist that influences a variety of systemic pathways, including the immune system, in low doses of 1.5 to 4.0 mg/d. This phenomenon has piqued the interest of researchers and practitioners in regard to low-dose naltrexone's potential in the treatment of several autoimmune conditions...
November 28, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/30479855/new-trends-in-botulinum-toxin-use-in-dermatology
#5
Stefania Guida, Francesca Farnetani, Steven P Nisticò, Caterina Giorgio Mariarosaria, Graziella Babino, Giovanni Pellacani, Elisabetta Fulgione
Background: Recent studies have highlighted new botulinum neurotoxin (BoNT) applications in the field of dermatology. Objective: To review current knowledge of BoNT use in dermatology. Methods: The literature of the last 5 five years has been reviewed. Results: We describe interesting protocols of BoNT treatment for hyperhidrosis (HH), hypertrophic scars and keloids, Raynaud phenomenon, facial flushing, oily skin, psoriasis, Hailey-Hailey disease, and cutaneous lesions like painful lesions and periorbital syringomas...
October 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/30412738/asymmetry-of-brain-excitability-a-new-biomarker-that-predicts-objective-and-subjective-symptoms-in-multiple-sclerosis
#6
Arthur R Chaves, Elizabeth M Wallack, Liam P Kelly, Ryan W Pretty, Hailey D Wiseman, Alice Chen, Craig S Moore, Mark Stefanelli, Michelle Ploughman
OBJECTIVES: Investigate whether asymmetrical corticospinal excitability exists in Multiple Sclerosis (MS) and its association with MS symptoms. METHODS: Bilateral resting and active motor thresholds (RMT, AMT) were gathered using transcranial magnetic stimulation among 82 MS patients. Corticospinal excitability (CSE) asymmetry was expressed as the ratio between weaker and stronger sides' RMT and AMT. Stronger and weaker side was determined by pinch and grip strength...
November 6, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/30322310/looking-for-a-treatment-for-hailey-hailey-disease-the-importance-of-being-consistent-in-case-reports
#7
Massimo Micaroni
No abstract text is available yet for this article.
November 2018: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/30304341/treatment-of-severe-hailey-hailey-disease-with-apremilast
#8
Julie Kieffer, Florence Le Duff, Henri Montaudié, Christine Chiaverini, Jean-Philippe Lacour, Thierry Passeron
Importance: Hailey-Hailey disease (HHD) is a rare, autosomal-dominant acantholytic dermatosis characterized clinically by development of recurrent blisters and erosions in friction areas. Despite progression in our understanding of the molecular genetics of HHD, therapy remains suboptimal and there is no known cure. Objective: To determine whether the novel phosphodiesterase-4 inhibitor apremilast is effective in the treatment of HHD. Design, Setting, and Participants: Clinical case series of 4 patients with severe, treatment-resistant HHD at an outpatient clinic in the Department of Dermatology of Nice University Hospital, Nice, France...
October 10, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/30291662/hailey-hailey-disease-successfully-treated-with-vitamin-d-oral-supplementation
#9
Matteo Megna, Massimiliano Scalvenzi, Daniela Russo, Elena A Timoshchuk, Claudia Costa, Pietro Santoianni
Hailey-Hailey disease (HHD) also known as familial benign chronic pemphigus is a rare autosomal dominant genodermatosis. HHD treatment is often not satisfactory and hence, various modalities of treatment have been tried. We describe the case of a 37-year-old woman with a 2 years history of macerated erythematous plaques along with erosions, fissures, and crusts located on axillae and submammary areas, successfully treated with only oral supplementation of vitamin D (800 I.U./die) for 3 months. We reported this case to suggest that oral vitamin D may be enumerated in the various treatments proposed for HHD so far due to its rapid efficacy on skin lesions and symptoms...
October 5, 2018: Dermatologic Therapy
https://www.readbyqxmd.com/read/30282695/huntingtin-suppression-restores-cognitive-function-in-a-mouse-model-of-huntington-s-disease
#10
Amber L Southwell, Holly B Kordasiewicz, Douglas Langbehn, Niels H Skotte, Matthew P Parsons, Erika B Villanueva, Nicholas S Caron, Michael E Østergaard, Lisa M Anderson, Yuanyun Xie, Louisa Dal Cengio, Hailey Findlay-Black, Crystal N Doty, Bethany Fitsimmons, Eric E Swayze, Punit P Seth, Lynn A Raymond, C Frank Bennett, Michael R Hayden
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin (HTT) protein, resulting in acquisition of toxic functions. Previous studies have shown that lowering mutant HTT has the potential to be broadly beneficial. We previously identified HTT single-nucleotide polymorphisms (SNPs) tightly linked to the HD mutation and developed antisense oligonucleotides (ASOs) targeting HD-SNPs that selectively suppress mutant HTT. We tested allele-specific ASOs in a mouse model of HD...
October 3, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/30280408/acitretin-as-a-successful-treatment-for-hailey-hailey-disease
#11
K Naidoo, I Tighe, P Barrett, V Bajaj
No abstract text is available yet for this article.
October 2, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/30280096/ubiquitin-receptor-rpn13-mediates-the-inhibitory-interaction-of-diphenyldihaloketones-clefma-and-ef24-with-the-26s-proteasome
#12
Geeta Rao, Gregory Nkepang, Jian Xu, Hooman Yari, Hailey Houson, Chengwen Teng, Vibhudutta Awasthi
The proteasome is a validated target in drug discovery for diseases associated with unusual proteasomal activity. Here we report that two diphenyldihaloketones, CLEFMA and EF24, inhibit the peptidase activity of the 26S proteasome. The objective of this study was to investigate interaction of these compounds with the proteasome and identify a putative target within the protein components of the 26S proteasome. We employed standard fluorogenic peptide-based proteasome activity assay for trypsin-like, chymotrypsin-like, and caspase-like activities of human purified 26S proteasome in cell-free conditions...
2018: Frontiers in Chemistry
https://www.readbyqxmd.com/read/30248938/low-dose-naltrexone-ldn-review-of-therapeutic-utilization
#13
REVIEW
Karlo Toljan, Bruce Vrooman
Naltrexone and naloxone are classical opioid antagonists. In substantially lower than standard doses, they exert different pharmacodynamics. Low-dose naltrexone (LDN), considered in a daily dose of 1 to 5 mg, has been shown to reduce glial inflammatory response by modulating Toll-like receptor 4 signaling in addition to systemically upregulating endogenous opioid signaling by transient opioid-receptor blockade. Clinical reports of LDN have demonstrated possible benefits in diseases such as fibromyalgia, Crohn's disease, multiple sclerosis, complex-regional pain syndrome, Hailey-Hailey disease, and cancer...
September 21, 2018: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/30242321/association-of-the-patient-protection-and-affordable-care-act-with-insurance-coverage-for-head-and-neck-cancer-in-the-seer-database
#14
Richard B Cannon, Hailey M Shepherd, Hilary McCrary, Patrick S Carpenter, Luke O Buchmann, Jason P Hunt, Jeffrey J Houlton, Marcus M Monroe
Importance: Patients with head and neck squamous cell cancer (HNSCC) are often uninsured or underinsured at the time of their diagnosis. This access to care has been shown to influence treatment decisions and survival outcomes. Objective: To examine the association of the Patient Protection and Affordable Care Act (ACA) health care legislation with rates of insurance coverage and access to care among patients with HNSCC. Design, Setting, and Participants: Prospectively gathered data from the Surveillance, Epidemiology, and End Results (SEER) database were used to examine rates of insurance coverage and access to care among 89 038 patients with newly diagnosed HNSCC from January 2007 to December 2014...
September 13, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/30234795/risk-factor-reversal-in-studies-of-infectious-disease-making-counterintuitive-results-intuitive-again
#15
Jay S Kaufman, Hailey R Banack, Joëlla W Adams, Brandon D L Marshall, Steven D Stovitz
A previously published study reported the seemingly paradoxical finding that MSM status was strongly protective and recent sexual abstinence strongly deleterious in relation to mortality prognosis. We explain why these results are entirely logical, and that the counterintuitive direction of the effects derives from the comparison group implied by the study design.
September 17, 2018: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/30220313/adjuvant-radiation-for-t1-2n1-oral-cavity-cancer-survival-outcomes-and-utilization-treatment-trends-analysis-of-the-seer-database
#16
Vanessa Torrecillas, Hailey M Shepherd, Sam Francis, Luke O Buchmann, Marcus M Monroe, Shane Lloyd, Donald Cannon, Ying J Hitchcock, John R Weis, Jason P Hunt, Jeffrey J Houlton, Richard B Cannon
OBJECTIVE: Evaluate current practice patterns in the use of adjuvant radiation for T1-2N1 OCSCC patients and investigate its efficacy in the population-based setting. MATERIALS AND METHODS: This study extracted patients who were treated surgically for T1N1 and T2N1 OCSCC without adverse nodal features from the SEER database from 2004 to 2013. Patients with distant metastatic disease, unknown surgery or radiation status, or prior malignancies were excluded. Patients were divided into those who underwent surgical resection with and without adjuvant radiation...
October 2018: Oral Oncology
https://www.readbyqxmd.com/read/30168169/segmental-hailey-hailey-disease-of-the-vulva
#17
Irene García-Morales, Luis Requena-Caballero, Rudolf Happle, Antonio Torrelo
A female infant presented with an ulcerated lesion on the right side of the vulva. Histopathology showed a suprabasal acantholytic blister with intact papillae protruding into the blister cavity and a few dyskeratotic cells. There were no signs of injury on other locations. Family history was unremarkable. Our patient may have linear Hailey-Hailey disease of the vulva, most likely a case of type 1 mosaic.
November 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/30167446/generalized-familial-benign-chronic-pemphigus-hailey-hailey-disease-treated-successfully-with-low-dose-naltrexone
#18
Natalie Kollman, Jonathan Bass
No abstract text is available yet for this article.
August 2018: JAAD Case Reports
https://www.readbyqxmd.com/read/30085437/meta-analysis-of-the-prevalence-of-major-depressive-disorder-among-older-adults-with-dementia
#19
M Selim Asmer, Julia Kirkham, Hailey Newton, Zahinoor Ismail, Heba Elbayoumi, Roxanne H Leung, Dallas P Seitz
OBJECTIVE: Little is known about the overall prevalence of major depressive disorder (MDD) in persons with dementia (ie, "depression in dementia": DpD). The aim of this systematic review and meta-analysis was to determine the prevalence and factors associated with DpD among older adults (age range 58.7-87.8 years). The protocol was registered in the PROSPERO registry (2015:CRD42015020681). DATA SOURCES: We searched the following electronic databases: MEDLINE (1946-February 2017), Embase (1980-2017 week 5), and PsycINFO (1967-February 2017) using medical subject headings and free-text search terms for studies in the English language...
July 31, 2018: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/30080777/evaluation-of-iv-to-enteral-benzodiazepine-conversion-calculations-in-a-pediatric-intensive-care-setting
#20
Susan E Warrington, Hailey K Collier, Adam S Himebauch, Heather A Wolfe
OBJECTIVES: To evaluate if institutionally established calculations for transitioning continuous IV midazolam to enteral benzodiazepines maintain Withdrawal Assessment Tool-Version 1 scores equal to or less than preconversion values. DESIGN: Retrospective cohort study evaluating the effectiveness and safety of benzodiazepine conversion calculations embedded within an institution-specific clinical pathway for sedation and weaning of mechanically ventilated pediatric patients...
August 3, 2018: Pediatric Critical Care Medicine
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