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Skin fragility

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https://www.readbyqxmd.com/read/28532758/the-kelch-surprise-klhl24-%C3%A2-a%C3%A2-new%C3%A2-player-in-the-pathogenesis-of%C3%A2-skin-fragility
#1
Cristina Has
A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes.
June 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28523885/intraepidermal-type-vii-collagen-by-immunofluorescence-mapping-a-specific-finding-for-bullous-dermolysis-of-the-newborn
#2
Gillian Heinecke, M Peter Marinkovich, Kerri E Rieger
BACKGROUND: Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa (DEB) characterized by skin fragility and blister formation at birth that typically resolves within the first year of life. Abnormal intraepidermal retention of type VII collagen (C7) has been reported as a characteristic feature of BDN, but few studies have investigated the specificity of this finding. METHODS: We retrospectively reviewed pathology reports of patients diagnosed with DEB using immunofluorescence mapping from January 2001 to January 2015...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28504989/structural-behavior-of-the-endothelial-glycocalyx-is-associated-with-pathophysiologic-status-in-septic-mice-an-integrated-approach-to-analyzing-the-behavior-and-function-of-the-glycocalyx-using-both-electron-and-fluorescence-intravital-microscopy
#3
Hanae Kataoka, Akira Ushiyama, Yoshihiro Akimoto, Sachie Matsubara, Hayato Kawakami, Takehiko Iijima
BACKGROUND: The endothelial surface layer (ESL) regulates vascular permeability to maintain fluid homeostasis. The glycocalyx (GCX), which has a complex and fragile ultrastructure, is an important component of the ESL. Abnormalities of the GCX have been hypothesized to trigger pathological hyperpermeability. Here, we report an integrated in vivo analysis of the morphological and functional properties of the GCX in a vital organ. METHODS: We examined the behavior of the ESL and GCX, using both electron microscopy (EM) and intravital microscopy (IVM)...
May 11, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28497520/nitrous-oxide-for-procedural-analgesia-at-home-in-a-child-with-epidermolysis-bullosa
#4
Pablo Ingelmo, Andrew Wei, Gonzalo Rivera
Epidermolysis bullosa comprises a range of conditions characterized by fragile skin with painful blistering induced by minor trauma and friction. The Dowling-Meara variant is a severe form characterized by disseminated painful blistering requiring lifelong skin and wound care. The natural history of the disease is characterized by a chronic course that tends to improve with advancing age. Various multimodal analgesic strategies have been proposed for painful procedures in children with epidermolysis bullosa...
May 11, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28452281/assessment-prevention-and-management-of-skin-tears
#5
Maureen Benbow
Skin tears are common in older people. They are acute wounds that are at high risk of becoming complex, chronic wounds due to the interplay between the physiological changes in the skin and trauma from the external environment. Skin tears have been reported to have prevalence rates equal to, or greater than, those for pressure ulcers. A comprehensive risk assessment should include assessment of the individual's general health (chronic/critical disease, polypharmacy and cognitive, sensory and nutritional status); mobility (history of falls, impaired mobility, dependent activities of daily living, and mechanical trauma); and skin (extremes of age, fragile skin and previous skin tears)...
April 28, 2017: Nursing Older People
https://www.readbyqxmd.com/read/28425111/-nails-only-phenotype-and-partial-dominance-of-p-glu170lys-mutation-in-a-family-with-epidermolysis-bullosa-simplex
#6
Álvaro González-Cantero, Ana Isabel Sánchez-Moya, Cristina Pérez-Hortet, Elena Martínez-Lorenzo, Blas Gómez-Dorado, Cristina Schoendorff-Ortega
Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails-only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene. Our findings may be relevant for genetic counseling and for understanding the inheritance pattern of EBS...
April 19, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28413388/a-case-report-of-cushing-s-disease-presenting-as-hair-loss
#7
Emily G Lefkowitz, Jack P Cossman, John B Fournier
Cushing's syndrome is a rare endocrine disorder that comprises a large group of signs and symptoms resulting from chronic exposure to excess corticosteroids. Most cases of Cushing's syndrome are due to increased adrenocorticotropic hormone production from a pituitary adenoma, which is referred to as Cushing's disease. Most of the signs and symptoms are nonspecific and common in the general population, making a diagnosis often challenging. However, several dermatological manifestations, such as fragile skin, easy bruising, and reddish purple striae, are more discriminatory...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28387435/collagen-v-haploinsufficiency-in-a-murine-model-of-classic-ehlers-danlos-syndrome-is-associated-with-deficient-structural-and-mechanical-healing-in-tendons
#8
Jessica M Johnston, Brianne K Connizzo, Snehal S Shetye, Kelsey A Robinson, Julianne Huegel, Ashley B Rodriguez, Mei Sun, Sheila M Adams, David E Birk, Louis J Soslowsky
Classic Ehlers-Danlos syndrome (EDS) patients suffer from connective tissue hyperelasticity, joint instability, skin hyperextensibility, tissue fragility, and poor wound healing due to heterozygous mutations in COL5a1 or COL5a2 genes. This study investigated the roles of collagen V in establishing structure and function in uninjured patellar tendons as well as in the injury response using a Col5a1(+/-) mouse, a model for classic EDS. These analyses were done comparing tendons from a classic EDS model (Col5a1(+/-) ) with wild-type controls...
April 7, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28362480/flexible-light-emission-diode-arrays-made-of-transferred-si-microwires-zno-nanofilm-with-piezo-phototronic-effect-enhanced-lighting
#9
Xiaoyi Li, Renrong Liang, Juan Tao, Zhengchun Peng, Qiming Xu, Xun Han, Xiandi Wang, Chunfeng Wang, Jing Zhu, Caofeng Pan, Zhong Lin Wang
Due to the fragility and the poor optoelectronic performances of Si, it is challenging and exciting to fabricate the Si-based flexible light-emitting diode (LED) array devices. Here, a flexible LED array device made of Si microwires-ZnO nanofilm, with the advantages of flexibility, stability, lightweight, and energy savings, is fabricated and can be used as a strain sensor to demonstrate the two-dimensional pressure distribution. Based on piezo-phototronic effect, the intensity of the flexible LED array can be increased more than 3 times (under 60 MPa compressive strains)...
April 25, 2017: ACS Nano
https://www.readbyqxmd.com/read/28357176/novel-and-emerging-therapies-in-the-treatment-of-recessive-dystrophic-epidermolysis-bullosa
#10
REVIEW
Ellie Rashidghamat, John A McGrath
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of inherited blistering diseases that affects ∼ 500,000 people worldwide. Clinically, individuals with EB have fragile skin and are susceptible to blistering following minimal trauma, with mucous membrane and other organ involvement in some subtypes. Within the spectrum of EB, ∼ 5% of affected individuals have the clinically more severe recessive dystrophic (RDEB) variant with a prevalence of 8 per one million of the population...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28346531/the-prevalence-of-trichomoniasis-and-associated-factors-among-women-treated-at-a-university-hospital-in-southern-brazil
#11
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
#12
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
#13
J-H Saurat, V Mengeaud, V Georgescu, C Coutanceau, K Ezzedine, C 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
#14
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
#15
Oliver P March, Julia Reichelt, Ulrich Koller
What is the topic of this review? This review concerns current gene editing strategies for blistering skin diseases with respect to individual genetic constellations and distinct conditions. What advances does it highlight? Specificity and safety dominate the discussion of gene editing applications for gene therapy, where a number of tools are implemented. Recent developments in this rapidly progressing field pose further questions regarding which tool is best suited for each particular use. The current treatment of inherited blistering skin diseases, such as epidermolysis bullosa (EB), is largely restricted to wound care and pain management...
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
#16
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
#17
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
#18
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
#19
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
#20
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
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