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https://www.readbyqxmd.com/read/28346531/the-prevalence-of-trichomoniasis-and-associated-factors-among-women-treated-at-a-university-hospital-in-southern-brazil
#1
Fabiane Aguiar Dos Anjos Gatti, Etienne Ceolan, Fernando Salles Rodrigues Greco, Paula Costa Santos, Gabriel Baracy Klafke, Gisele Rodrigues de Oliveira, Andrea Von Groll, Ana Maria Barral de Martinez, Carla Vitola Gonçalves, Carlos James Scaini
BACKGROUND: Trichomoniasis is the most prevalent non-viral sexually transmitted disease (STD) in the world; however, it remains a neglected parasitic disease. This study aimed to determine the prevalence of trichomoniasis and its associated epidemiological factors among women treated at a hospital in southern Brazil. METHODOLOGY/PRINCIPAL FINDINGS: A cross-sectional study was performed to determine the prevalence of this infection in women treated at Hospital Universitário (HU) in Rio Grande, Rio Grande do Sul, Brazil, between January 2012 and January 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#2
REVIEW
Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity...
March 27, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28342195/a-simple-self-diagnosis-tool-to-assess-the-prevalence-of-dermatoporosis-in-france
#3
Jean-Hilaire Saurat, Valérie Mengeaud, Victor Georgescu, Christine Coutanceau, Khaled Ezzedine, Charles Taïeb
IMPORTANCE: The term dermatoporosis has been proposed to describe clinical signs and functional consequences of age-related extreme skin fragility. OBJECTIVE: To create a simple dermatoporosis self-diagnosis tool (IDA: Index Dermatoporosis Assessment) and to use this tool to estimate the prevalence of dermatoporosis in France. DESIGN, SETTING, AND PARTICIPANTS: A specific dermatoporosis questionnaire was developed with the help of senior dermatologists and survey experts...
March 25, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#4
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28271571/gene-editing-for-skin-diseases-designer-nucleases-as-tools-for-gene-therapy-of-skin-fragility-disorders
#5
Oliver P March, Julia Reichelt, Ulrich Koller
The current treatment of inherited blistering skin diseases, such as epidermolysis bullosa (EB) is largely restricted to wound care and pain management. More effective therapeutic strategies are urgently required and targeting the genetic basis of these severe diseases is now within reach. Here we describe current gene editing tools and their potential to correct gene function in monogenetic blistering skin diseases. We present the features of the most frequently used gene editing techniques TALEN and CRISPR/Cas9, determining their preferential application under specific genetic conditions, including the type of mutational inheritance, the targeting site within the gene or the possibility to specifically target the mutation...
March 7, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28261977/tissue-specific-mosaicism-for-a-lethal-osteogenesis-imperfecta-col1a1-mutation-causes-mild-oi-eds-overlap-syndrome
#6
Sofie Symoens, Wouter Steyaert, Lynn Demuynck, Anne De Paepe, Karin E M Diderich, Fransiska Malfait, Paul J Coucke
Type I collagen is the predominant protein of connective tissues such as skin and bone. Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). We describe a patient with clinical signs of Ehlers-Danlos syndrome (EDS), including fragile skin, easy bruising, recurrent luxations, and fractures resembling mild OI. Biochemical collagen analysis of the patients' dermal fibroblasts showed faint overmodification of the type I collagen bands, a finding specific for structural defects in type I collagen...
March 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28258944/caesarean-delivery-in-a-pregnant-woman-with-epidermolysis-bullosa-anaesthetic-challenges
#7
M Araújo, R Brás, R Frada, L Guedes-Martins, P Lemos
Epidermolysis bullosa is a heterogeneous group of hereditary diseases characterised by extreme fragility of skin and mucosa, with blister and lesion formation spontaneously or in response to trauma. Anaesthetic management of these patients is challenging with respect to positioning, monitoring, use of medical devices and airway management. These challenges are increased when managing labour. We report an elective caesarean delivery in a nulliparous woman with autosomal recessive dystrophic epidermolysis bullosa, managed successfully with spinal anaesthesia...
February 3, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/28252334/treatment-of-a-club-member-with-fragile-skin
#8
Annamarie Ivory, Katie Bennett, Hayley Mepstead, Sylvie Hampton
No abstract text is available yet for this article.
March 2017: British Journal of Community Nursing
https://www.readbyqxmd.com/read/28238810/defect-in-dermatan-sulfate-in-urine-of-patients-with-ehlers-danlos-syndrome-caused-by-a-chst14-d4st1-deficiency
#9
Shuji Mizumoto, Tomoki Kosho, Atsushi Hatamochi, Tomoko Honda, Tomomi Yamaguchi, Nobuhiko Okamoto, Noriko Miyake, Shuhei Yamada, Kazuyuki Sugahara
PURPOSE: Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently delineated form of Ehlers-Danlos syndrome (EDS, musculocontractural type 1), an autosomal recessive connective tissue disorder characterized by congenital malformations (specific craniofacial features, and congenital multiple contractures) and progressive fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; and large subcutaneous hematomas)...
February 23, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#10
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28192633/ehlers-danlos-syndrome-classical-type
#11
Jessica M Bowen, Glenda J Sobey, Nigel P Burrows, Marina Colombi, Mark E Lavallee, Fransiska Malfait, Clair A Francomano
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28145469/high-throughput-screen-detects-calcium-signaling-dysfunction-in-typical-sporadic-autism-spectrum-disorder
#12
Galina Schmunk, Rachel L Nguyen, David L Ferguson, Kenny Kumar, Ian Parker, J Jay Gargus
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders without any defined uniting pathophysiology. Ca(2+) signaling is emerging as a potential node in the genetic architecture of the disorder. We previously reported decreased inositol trisphosphate (IP3)-mediated Ca(2+) release from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - fragile X and tuberous sclerosis types 1 and 2 syndromes. We now extend those findings to a cohort of subjects with sporadic ASD without any known mutations...
February 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28126522/stromal-microenvironment-in-type-vii-collagen-deficient-skin-the-ground-for-squamous-cell-carcinoma-development
#13
REVIEW
Liliana Guerra, Teresa Odorisio, Giovanna Zambruno, Daniele Castiglia
Recessive dystrophic epidermolysis bullosa (RDEB) is a skin fragility disease caused by mutations that affect the function and/or the amount of type VII collagen (C7), the major component of anchoring fibrils. Hallmarks of RDEB are unremitting blistering and chronic wounds leading to tissue fibrosis and scarring. Nearly all patients with severe RDEB develop highly metastatic squamous cell carcinomas (SCC) which are the main cause of death. Accumulating evidence from a murine RDEB model and human RDEB cells demonstrates that lack of C7 also directly alters the wound healing process...
January 23, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28120867/high-quality-bioreplication-of-intricate-nanostructures-from-a-fragile-gecko-skin-surface-with-bactericidal-properties
#14
David William Green, Kenneth Ka-Ho Lee, Jolanta Anna Watson, Hyun-Yi Kim, Kyung-Sik Yoon, Eun-Jung Kim, Jong-Min Lee, Gregory Shaun Watson, Han-Sung Jung
The external epithelial surfaces of plants and animals are frequently carpeted with small micro- and nanostructures, which broadens their adaptive capabilities in challenging physical habitats. Hairs and other shaped protuberances manage with excessive water, light contaminants, predators or parasites in innovative ways. We are interested in transferring these intricate architectures onto biomedical devices and daily-life surfaces. Such a project requires a very rapid and accurate small-scale fabrication process not involving lithography...
January 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28093252/low-energy-open-ankle-fractures-in-the-elderly-outcome-and-treatment-algorithm
#15
Asanka Wijendra, Rupali Alwe, Michael Lamyman, George A Grammatopoulos, Gregoris Kambouroglou
BACKGROUND: With an aging but still active population, open ankle fractures are increasingly presenting as low energy fragility injuries, sharing many characteristics with that of hip fractures. Yet, there is little in the literature on the management and outcome of these fractures. The primary aim of this study was to describe the outcome following open, ankle fragility fracture. Our secondary aim was to identify potential factors that improved outcome. METHODS: All consecutive, low energy open ankle fractures treated at a Level I Trauma Centre over a five-year period were included...
December 10, 2016: Injury
https://www.readbyqxmd.com/read/28087116/application-of-whole-exome-sequencing-in-elucidating-the-phenotype-and-genotype-spectrum-of-junctional-epidermolysis-bullosa-a-preliminary-experience-of-a-tertiary-care-centre-in-india
#16
Vamsi K Yenamandra, Shamsudheen K Vellarikkal, Manoj Kumar, Madhumita R Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata B Ray, Amit K Dinda, Madhulika Kabra, Punit Kaur, Vinod K Sharma, Gomathy Sethuraman
BACKGROUND: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in several genodermatoses. OBJECTIVE: In view of the scarcity and need of molecular studies for JEB in India, we sought to explore the potential of WES in understanding the mutational spectrum of this rare, in certain subtypes lethal, sub-group of EB...
April 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28049509/hyperbaric-oxygen-therapy-for-a-refractory-skin-ulcer-after-radical-mastectomy-and-radiation-therapy-a-case-report
#17
Mitsuhiro Enomoto, Kazuyoshi Yagishita, Kae Okuma, Takuya Oyaizu, Yasushi Kojima, Atsushi Okubo, Takuma Maeda, Satoko Miyamoto, Atsushi Okawa
BACKGROUND: Radiation therapy is performed as an adjuvant therapy when indicated following surgical resection of malignant tumors. However, radiation exposure induces acute or chronic dermatitis, depending on the radiation dose, interval, tissue volume, or irradiated area of the body. Radiation-induced skin ulcers and osteomyelitis of the underlying bone are intractable late-stage complications of radiation therapy, and often require reconstructive surgery to cover exposed tissue. Hyperbaric oxygen therapy has been suggested as a treatment for delayed radiation injury with soft tissue and bony necrosis...
January 4, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28038939/skin-fragility-in-the-wild-derived-inbred-mouse-strain-mus-pahari-eij
#18
C Herbert Pratt, Christopher S Potter, Raoul V Kuiper, Son Yong Karst, Soheil S Dadras, Derry C Roopenian, John P Sundberg
Mus pahari is a wild-derived, inbred mouse strain. M. pahari colony managers observed fragility of this strain's skin resulting in separation of tail skin from the mouse if handled incorrectly. Tail skin tension testing of M. pahari resulted in significantly lowered force threshold for caudal skin rupture and loss in comparison to closely related inbred mouse species and subspecies and even more than a model for junctional epidermolysis bullosa. Histologically, the tail skin separated at the subdermal level with the dermis firmly attached to the epidermis, excluding the epidermolysis bullosa complex of diseases...
February 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28033634/how-to-harmonize-the-ethnic-nose
#19
Artur Grinfeld, Rodrigo Betelli, Guilherme Arruda, Washington Almeida
The demand for cosmetic surgery has significantly increased in the past few years mainly due to economic rise witnessed in Brazil. The state of Bahia has predominately Afro-descendant population with the same countrywide scenario, where the surgeon must be able to face challenges such as the specifics demands of rhinoplasty in an ethnic nose. It represents not only a different nasal variety from the Caucasoid, but also a complex anatomical feature, with its own peculiarities, as thicker and oilier skin, with bulky fibrous fatty tissue with numerous sebaceous glands...
December 2016: Facial Plastic Surgery: FPS
https://www.readbyqxmd.com/read/28025844/cross-sectional-study-evaluating-skin-hair-nail-and-bone-disease-in-patients-with-focal-dermal-hypoplasia
#20
Nicole S Gunasekera, Joan K Divito, Thomas S Kupper, Jennifer T Huang, Sherrie J Divito
Focal dermal hypoplasia (FDH) is an X-linked dominant disease characterized by dermal thinning and fat herniation with other ectodermal and mesodermal abnormalities. There is limited literature regarding the symptomatology and progression of skin, hair, and nail disease. The risk of bone fragility has not been explored either. This cross-sectional survey-based study explored these gaps in knowledge and provides direction for future avenues of research in FDH.
March 2017: Pediatric Dermatology
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