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Hailey-Hailey disease

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
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 treatment proposed for HHD so far due to its rapid efficacy on skin lesions and symptoms...
October 5, 2018: Dermatologic Therapy
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
K Naidoo, I Tighe, P Barrett, V Bajaj
No abstract text is available yet for this article.
October 2, 2018: Clinical and Experimental Dermatology
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
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
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
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
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
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.
August 30, 2018: Pediatric Dermatology
Natalie Kollman, Jonathan Bass
No abstract text is available yet for this article.
August 2018: JAAD Case Reports
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
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
Yuhui Wang, Junyi Tan, Zhiming Wu, Kyle VandenLangenberg, Todd C Wehner, Changlong Wen, Xiangyang Zheng, Ken Owens, Alyson Thornton, Hailey H Bang, Eric Hoeft, Peter A G Kraan, Jos Suelmann, Junsong Pan, Yiqun Weng
The Gy14 cucumber (Cucumis sativus) is resistant to oomyceteous downy mildew (DM), bacterial angular leaf spot (ALS) and fungal anthracnose (AR) pathogens, but the underlying molecular mechanisms are unknown. Quantitative trait locus (QTL) mapping for the disease resistances in Gy14 and further map-based cloning identified a candidate gene for the resistant loci, which was validated and functionally characterized by spatial-temporal gene expression profiling, allelic diversity and phylogenetic analysis, as well as local association studies...
July 19, 2018: New Phytologist
Graziella Ficociello, Azzurra Zonfrilli, Samantha Cialfi, Claudio Talora, Daniela Uccelletti
The term orthodisease defines human disorders in which the pathogenic gene has orthologs in model organism genomes. Yeasts have been instrumental for gaining insights into the molecular basis of many human disorders, particularly those resulting from impaired cellular metabolism. We and others have used yeasts as a model system to study the molecular basis of Hailey-Hailey disease (HHD), a human blistering skin disorder caused by haploinsufficiency of the gene ATP2C1 the orthologous of the yeast gene PMR1 ...
June 20, 2018: International Journal of Molecular Sciences
Kyle T Amber, Manuel Valdebran, Sergei A Grando
Pemphigus vulgaris (PV) is a potentially life-threatening mucocutaneous autoimmune blistering disease. Patients develop non-healing erosions and blisters due to cell-cell detachment of keratinocytes (acantholysis), with subsequent suprabasal intraepidermal splitting. Identified almost 30 years ago, desmoglein-3 (Dsg3), a Ca2+ -dependent cell adhesion molecule belonging to the cadherin family, has been considered the "primary" autoantigen in PV. Proteomic studies have identified numerous autoantibodies in patients with PV that have known roles in the physiology and cell adhesion of keratinocytes...
2018: Frontiers in Immunology
Nicole Leung, Adela R Cardones, Nicole Larrier
No abstract text is available yet for this article.
September 2018: Practical Radiation Oncology
Kaien Gu, Shane Silver
Hailey-Hailey disease, or benign familial pemphigus, is a rare blistering disease originally described in 1939. The disease is due to an autosomal dominant mutation in the ATP2C1 gene on chromosome 3, which encodes for an adenosine triphosphate-dependent calcium pump in the Golgi apparatus whose function is to maintain intercellular calcium homeostasis. Common treatments for Hailey-Hailey disease involve calcineurin inhibitors, topical corticosteroids, topical or systemic antibiotics, topical antifungals, ablative lasers, or botulin toxin...
May 2018: Journal of Cutaneous Medicine and Surgery
Elisabeth P Dellon, Sarah W Helms, Claire E Hailey, Rosemary Shay, Scott D Carney, Howard Joel Schmidt, David E Brown, Mary G Prieur
BACKGROUND: Individuals with cystic fibrosis (CF) face the challenges of managing a chronic, progressive disease. While palliative care is a standard of care in serious illnesses, there are no guidelines for its incorporation into CF care. Patients with CF, caregivers, and CF care providers may lack knowledge about palliative care and perceive barriers to integrated care. OBJECTIVES: To: 1) explore knowledge and perceptions of palliative care among patients with CF, caregivers, and CF care providers; 2) solicit opinions about incorporating palliative care into routine CF care; and 3) solicit recommendations for CF-specific palliative care education for patients and caregivers...
September 2018: Pediatric Pulmonology
Hailey R Banack, Sam Harper, Jay S Kaufman
BACKGROUND: In cardiovascular research, pre-hospital mortality represents an important potential source of selection bias. Inverse probability of censoring weights are a method to account for this source of bias. The objective of this article is to examine and correct for the influence of selection bias due to pre-hospital mortality on the relationship between cardiovascular risk factors and all-cause mortality after an acute cardiac event. METHODS: The relationship between the number of cardiovascular disease (CVD) risk factors (0-5; smoking status, diabetes, hypertension, dyslipidemia, and obesity) and all-cause mortality was examined using data from the Atherosclerosis Risk in Communities (ARIC) study...
June 2018: Canadian Journal of Cardiology
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