keyword
MENU ▼
Read by QxMD icon Read
search

Skin fragility

keyword
https://www.readbyqxmd.com/read/29679399/inherited-epidermolysis-bullosa-new-diagnostics-and-new-clinical-phenotypes
#1
Cristina Has, Judith Fischer
Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Here we discuss the development of laboratory methods that enabled these discoveries and the clinical and molecular features of some new EB entities elucidated during the past 5-6 years...
April 20, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29672393/prospective-prognostic-cohort-study-of-pressure-injuries-in-older-adult-patients-with-hip-fractures
#2
Cristiana Forni, Fabio D'Alessandro, Rossana Genco, Sandra Mini, Teresa Notarnicola, Arianna Vitulli, Daniela Capezzali, Mattia Morri
OBJECTIVE: The aim of this study was to assess the rate of pressure injury and real predictors thereof in the older adult population with hip fractures in an orthopedic hospital. METHODS: In this prospective prognostic cohort study, all patients admitted with fragility hip fractures were monitored over a 12-month period. On a daily basis, ward nurses and physiotherapists assessed the condition of the patients' skin and collected data about all the predictors connected to their healthcare and hospital organization until the patients were discharged from hospital or until the onset of pressure injury...
May 2018: Advances in Skin & Wound Care
https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#3
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29627521/epidermolysis-bullosa-molecular-pathology-of-connective-tissue-components-in-the-cutaneous-basement-membrane-zone
#4
REVIEW
Cristina Has, Alexander Nyström, Amir Hossain Saeidian, Leena Bruckner-Tuderman, Jouni Uitto
Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by blistering, erosions and chronic ulcers in the skin and mucous membranes. In some forms, the blistering phenotype is associated with extensive mutilating scarring and development of aggressive squamous cell carcinomas. The skin findings can be associated with extracutaneous manifestations in the ocular as well as gastrointestinal and vesico-urinary tracts. The phenotypic heterogeneity reflects the presence of mutations in as many as 20 different genes expressed in the cutaneous basement membrane zone, and the types and combinations of the mutations and their consequences at the mRNA and protein levels contribute to the spectrum of severity encountered in different subtypes of EB...
April 5, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29624914/fragile-x-checklists-a-meta-analysis-and-development-of-a-simplified-universal-clinical-checklist
#5
Toni Kasole Lubala, Aimé Lumaka, Gray Kanteng, Léon Mutesa, Olivier Mukuku, Stanislas Wembonyama, Randi Hagerman, Oscar Numbi Luboya, Prosper Lukusa Tshilobo
BACKGROUND: Clinical checklists available have been developed to assess the risk of a positive Fragile X syndrome but they include relatively small sample sizes. Therefore, we carried out a meta-analysis that included statistical pooling of study results to obtain accurate figures on the prevalence of clinical predictors of Fragile X syndrome among patients with intellectual disability, thereby helping health professionals to improve their referrals for Fragile X testing. METHODS: All published studies consisting of cytogenetic and/or molecular screening for fragile X syndrome among patients with intellectual disability, were eligible for the meta-analysis...
April 6, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29596733/skin-barrier-in-the-neonate
#6
Alain Taïeb
The purpose of this review is to focus on determinants of skin barrier function in neonates at molecular and cellular levels. The skin barrier is critical in terms of water and gas exchanges during fetal life and undergoes rapid changes at birth, followed by a progressive maturation. Consequences of skin barrier disruption can be extremely detrimental or lethal, as shown in severe genetic epidermal defects. In this context, the fine-tuned rapid adaptation from a liquid to a gaseous milieu is not fully understood...
March 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29574966/burnlike-scars-a-sign-suggestive-of-klhl24-related-epidermolysis-bullosa-simplex
#7
Azzam Alkhalifah, Christine Chiaverini, Alexandra Charlesworth, Cristina Has, Jean-Philippe Lacour
Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. We describe a case of KLHL24-related epidermolysis bullosa simplex and highlight the burn-like pattern of scars...
March 25, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29569862/recognising-and-managing-age-related-dermatoporosis-and-skin-tears
#8
Valentina Vanzi, Elena Toma
Dermatoporosis is a chronic skin fragility syndrome, caused by age and environmental factors. People with dermatoporosis have skin whose protective mechanical function is reduced and which has a decreased tolerance for friction and shearing forces. Skin tears are another clinical consequence of age-associated skin vulnerability and people with dermatoporosis are at increased risk of skin tears. Dermatoporosis may also delay the healing of skin tears, making it vital that healthcare professionals are aware of this condition...
March 23, 2018: Nursing Older People
https://www.readbyqxmd.com/read/29568501/advances-in-understanding-the-molecular-basis-of-skin-fragility
#9
REVIEW
Cristina Has
Skin fragility refers to a large group of conditions in which the ability of the skin to provide protection against trivial mechanical trauma is diminished, resulting in the formation of blisters, erosions, wounds, or scars. Acquired and physiological skin fragility is common; genetic disorders are rare but give insight into the molecular mechanisms ensuring skin stability. The paradigm is represented by inherited epidermolysis bullosa. This review is focused on recent advances in understanding the molecular basis of genetic skin fragility, including emerging concepts, controversies, unanswered questions, and opinions of the author...
2018: F1000Research
https://www.readbyqxmd.com/read/29566917/therapeutic-challenges-in-the-mature-patient
#10
Zrinka Bukvić Mokos, Anamaria Jović, Romana Čeović, Krešimir Kostović, Ivica Mokos, Branka Marinović
With the tremendous increase in the proportion of seniors in the global population, geriatric health care has become of greater interest and concern. Increased emphasis on geriatric medicine, along with the growth in the development of age-related skin disorders, has led to particular attention for geriatric, dermatology and dermatopharmacology. An aging population has brought many therapeutic challenges that we need to recognize and overcome by applying geropharmacologic principles. The purpose of this paper is to inform dermatologists of the age-related changes in the pharmacokinetics of common dermatologic drugs, their various interactions potentially occurring in the elderly, and the principles and evidence-based strategies for detection, management, and prevention to improve medication adherence...
March 2018: Clinics in Dermatology
https://www.readbyqxmd.com/read/29562024/social-networks-of-patients-with-chronic-skin-lesions-nursing-care
#11
Luciana Alves Bandeira, Maxuel Cruz Dos Santos, Êrica Rosalba Mallmann Duarte, Andrea Gonçalves Bandeira, Deise Lisboa Riquinho, Letícia Becker Vieira
OBJECTIVE: To describe the social networks of patients with chronic skin damages. METHOD: A qualitative study conducted through semi-structured interviews with nine subjects with chronic skin lesions from June 2016 to March 2017; we used the theoretical-methodological framework of Lia Sanicola's Social Network. RESULTS: The analysis of the relational maps revealed that the primary network was formed mainly by relatives and neighbors; its characteristics, such as: reduced size, low density and few exchanges/relationships, configures fragility in these links...
2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/29561836/impaired-proteoglycan-glycosylation-elevated-tgf-%C3%AE-signaling-and-abnormal-osteoblast-differentiation-as-the-basis-for-bone-fragility-in-a-mouse-model-for-gerodermia-osteodysplastica
#12
Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, Uwe Kornak
Gerodermia osteodysplastica (GO) is characterized by skin laxity and early-onset osteoporosis. GORAB, the responsible disease gene, encodes a small Golgi protein of poorly characterized function. To circumvent neonatal lethality of the GorabNull full knockout, Gorab was conditionally inactivated in mesenchymal progenitor cells (Prx1-cre), pre-osteoblasts (Runx2-cre), and late osteoblasts/osteocytes (Dmp1-cre), respectively. While in all three lines a reduction in trabecular bone density was evident, only GorabPrx1 and GorabRunx2 mutants showed dramatically thinned, porous cortical bone and spontaneous fractures...
March 21, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29557620/-congenital-erythropoietic-porphyria-case-report-and-management-recommendations
#13
Claudia Salomone B, Isabel Ogueta C, Carlos Reyes V, Gloria Durán S, Noemí Aguirre, Angélica Wietstruck
Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection...
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29553924/porphyria-what-is-it-and-who-should-be-evaluated
#14
Yonatan Edel, Rivka Mamet
The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Other symptoms which could appear include hypertension, hyponatremia, peripheral neuropathy, and mild mental symptoms...
March 15, 2018: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/29551664/type-iii-collagen-affects-dermal-and-vascular-collagen-fibrillogenesis-and-tissue-integrity-in-a-mutant-col3a1-transgenic-mouse-model
#15
Sanne D'hondt, Brecht Guillemyn, Delfien Syx, Sofie Symoens, Riet De Rycke, Leen Vanhoutte, Wendy Toussaint, Bart N Lambrecht, Anne De Paepe, Douglas R Keene, Yoshihiro Ishikawa, Hans Peter Bächinger, Sophie Janssens, Mathieu J M Bertrand, Fransiska Malfait
Type III collagen is a major fibrillar collagen consisting of three identical α1 (III)-chains that is particularly present in tissues exhibiting elastic properties, such as the skin and the arterial wall. Heterozygous mutations in the COL3A1 gene result in vascular Ehlers-Danlos syndrome (vEDS), a severe, life-threatening disorder, characterized by thin, translucent skin and propensity to arterial, intestinal and uterine rupture. Most human vEDS cases result from a missense mutation substituting a crucial glycine residue in the triple helical domain of the α1 (III)-chains...
March 15, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29532031/fragile-skin-microbiomes-in-megacities-are-assembled-by-a-predominantly-niche-based-process
#16
Hye-Jin Kim, Hanbyul Kim, Jin Ju Kim, Nu Ri Myeong, Taeyune Kim, Taehun Park, Eunjoo Kim, Ji-Yei Choi, Johnhwan Lee, Susun An, Woo Jun Sul
Given the higher incidence of skin diseases in more urbanized populations and its association with the skin microbiome, we questioned how the skin microbiome differed depending on the degree of urbanization. Skin microbiomes of 231 healthy subjects in five large cities in China varied mainly with environment and socioeconomic status of the cities in question. The differences among microbiomes could be explained by the predominantly niche-based assembly of microbial communities, which was supported by a dominance test, β-null deviation, and edge-length abundance distribution...
March 2018: Science Advances
https://www.readbyqxmd.com/read/29499446/ehlers-danlos-syndromes-and-epilepsy-an-updated-review
#17
REVIEW
Francesca Cortini, Chiara Villa
The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS...
February 27, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29483819/risks-of-using-sterilization-by-gamma-radiation-the-other-side-of-the-coin
#18
REVIEW
C Randall Harrell, Valentin Djonov, Crissy Fellabaum, Vladislav Volarevic
The standard sterilization method for most medical devices over the past 40 years involves gamma irradiation. During sterilization, gamma rays efficiently eliminate microorganisms from the medical devices and tissue allografts, but also significantly change molecular structure of irradiated products, particularly fragile biologics such as cytokines, chemokines and growth factors. Accordingly, gamma radiation significantly alters biomechanical properties of bone, tendon, tracheal, skin, amnion tissue grafts and micronized amniotic membrane injectable products...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29457018/nail-changes-in-early-mycosis-fungoides
#19
Amir Hooshang Ehsani, Maryam Nasimi, Arghavan Azizpour, Pedram Noormohammadpoor, Kambiz Kamyab, Hasan Seirafi, Mojghan Noori
Background: Mycosis fungoides (MF) has a wide range of clinical presentations and it has been reported rarely to involve the nail apparatus. Objective: We intended to evaluate the frequency and characteristics of nail changes in patients with biopsy-proven MF. Methods: A retrospective analysis of 60 patients with MF who were evaluated at our cancer center from 2013 to 2014 was performed to identify patients with nail changes. Histological examinations of the skin around the nail apparatus were obtained from 10 patients with periungual skin erythema and scaling...
January 2018: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29413767/the-role-of-intramedullary-fixation-in-ankle-fractures-a-systematic-review
#20
REVIEW
R W Jordan, A W P Chapman, D Buchanan, P Makrides
BACKGROUND: Ankle fractures are one of the most commonly occurring fractures in the elderly population. The overall incidence has been reported to be up to 184 fractures per 100,000 persons per year, of which 20-30% occur in the elderly. Medical co-morbidities, osteoporosis, suboptimal skin quality and poor toleration of non-weight bearing status all contribute to difficulties in managing these injuries in this population. Intramedullary implants are advantageous as they utilise smaller incisions, minimise soft tissue disruption and may allow early weight bearing...
February 2018: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
keyword
keyword
17633
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"