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https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#1
D-P Germain
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders...
October 9, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29024068/autosomal-recessive-epidermolysis-bullosa-simplex-due-to-krt14-mutation-two-large-palestinian-families-and-literature-review
#2
A Diociaiuti, D Castiglia, M Naim, A G Condorelli, G Zambruno, M El Hachem
Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by trauma-induced blister formation. Four major EB types are distinguished based on the level of blister formation within the skin: EB simplex (EBS), junctional EB, dystrophic EB, and Kindler syndrome(1) . EBS represents the most common type and is defined by intraepidermal cleavage. This article is protected by copyright. All rights reserved.
October 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29019915/revolutionizing-therapeutic-drug-monitoring-with-the-use-of-interstitial-fluid-and-microneedles-technology
#3
REVIEW
Tony K L Kiang, Sahan A Ranamukhaarachchi, Mary H H Ensom
While therapeutic drug monitoring (TDM) that uses blood as the biological matrix is the traditional gold standard, this practice may be impossible, impractical, or unethical for some patient populations (e.g., elderly, pediatric, anemic) and those with fragile veins. In the context of finding an alternative biological matrix for TDM, this manuscript will provide a qualitative review on: (1) the principles of TDM; (2) alternative matrices for TDM; (3) current evidence supporting the use of interstitial fluid (ISF) for TDM in clinical models; (4) the use of microneedle technologies, which is potentially minimally invasive and pain-free, for the collection of ISF; and (5) future directions...
October 11, 2017: Pharmaceutics
https://www.readbyqxmd.com/read/28992628/ultrastructural-confocal-and-viscoelastic-characteristics-of-whole-blood-and-plasma-after-exposure-to-cadmium-and-chromium-alone-and-in-combination-an-ex-vivo-study
#4
Chantelle Venter, Hester Magdalena Oberholzer, Janette Bester, Mia-Jeanne van Rooy, Megan Jean Bester
BACKGROUND/AIMS: Heavy metal pollution is increasing in the environment, contaminating water, food and air supplies. This can be linked to many anthropogenic activities. Heavy metals are absorbed through the skin, inhalation and/or orally. Irrespective of the manner of heavy metal entry in the body, the blood circulatory system is potentially the first to be affected following exposure and adverse effects on blood coagulation can lead to associated thrombotic disease. Although the plasma levels and the effects of cadmium (Cd) and chromium (Cr) on erythrocytes and lymphocytes have been described, the environmental exposure to heavy metals are not limited to a single metal and often involves metal mixtures, with each metal having different rates of absorption, different cellular, tissue, and organ targets...
October 9, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28971112/maggot-debridement-therapy-with-a-direct-dressing-can-cause-compression-injuries-in-patients-with-chronic-limb-ischemia
#5
Akio Nishijima, Naoto Yamamoto, Ryuichi Yoshida, Satoshi Yanagibayashi, Megumi Takikawa, Rie Hayasaka, Eri Maruyama, Junko Nishijima, Mitsuru Sekido
While there are no reports regarding dressing-associated iatrogenic skin ulcer as an adverse event of maggot debridement therapy (MDT), MDT is clinically used on patients with critical limb ischaemia with dermal fragility. Herein we report causes and counter measures for a case of iatrogenic skin ulcer induced by MDT dressing.
2017: Case Reports in Plastic Surgery & Hand Surgery
https://www.readbyqxmd.com/read/28967365/hypermobility-the-ehlers-danlos-syndromes-and-chronic-pain
#6
REVIEW
Delfien Syx, Inge De Wandele, Lies Rombaut, Fransiska Malfait
Chronic widespread pain is a common complaint among individuals affected by generalised joint hypermobility. In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Clinical overlap of JHS is seen with heritable connective tissue disorders, particularly with the Ehlers-Danlos syndrome, hypermobile type (hEDS). The Ehlers-Danlos syndromes (EDS) comprise a heterogeneous group of rare monogenic conditions that are characterised by joint hypermobility, skin and vascular fragility and generalised connective tissue friability, and are caused by genetic defects in an array of extracellular matrix genes...
September 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28963698/hereditary-lysozyme-amyloidosis-with-sicca-syndrome-digestive-arterial-and-tracheobronchial-involvement-case-based-review
#7
REVIEW
Audrey Benyamine, Fanny Bernard-Guervilly, Céline Tummino, Nicolas Macagno, Laurent Daniel, Sophie Valleix, Brigitte Granel
Lysozyme amyloidosis (ALys) is a rare autosomal dominant hereditary systemic amyloidosis associated with a large spectrum of clinical manifestations. ALys phenotype mainly involves the digestive tract, liver and spleen, kidneys, lymph nodes, skin, and lachrymal and salivary glands. Very recently, cardiac involvement and peripheral neuropathy associated with a new p.Leu102Ser variant of lysozyme have been documented. In the present observation, we extend the phenotypic heterogeneity of ALys to the tracheobronchial tree with histologically proven bronchial ALys-amyloid deposits...
November 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28944966/inpatient-management-of-children-with-recessive-dystrophic-epidermolysis-bullosa-a-review
#8
REVIEW
Alvin W Li, Brea Prindaville, Scot T Bateman, Timothy E Gibson, Karen Wiss
Recessive dystrophic epidermolysis bullosa is a disorder marked by skin and mucosal blistering after minimal trauma. Even the most routine procedures in the hospital, if done incorrectly, can precipitate extensive skin loss, pain, and scarring. Most providers have little experience working with patients with this degree of skin fragility. When a person with recessive dystrophic epidermolysis bullosa is admitted to the hospital, there are multiple considerations to keep in mind while strategizing an effective care plan: avoidance of new blisters with a "hands-off" approach; careful consideration of all indwelling devices; symptomatic management of pain, itch, and anxiety; coordination of dressing changes; aggressive treatment of skin infections; environmental and staffing considerations; and awareness of other chronic complications that affect care, such as anemia, malnutrition, and chronic pain...
September 25, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28944938/-reverse-j-shaped-skin-flap-and-cranial-bone-groove-for-shunt-hardware-a-new-technique-in-patients-with-fragile-skin
#9
Murteza Cakir
INTRODUCTION: Shunt systems are not perfect devices and can cause severe complications. Complications may originate from problems related to the valve, the patient, or the surgery and more common in neonates, infants, especially preterm by reason of the special characteristics these patients owned. We therefore have succesfully developed useful and viable surgical technique in order to provide helpful aspects to surgical issues mentioned above. TECHNIQUE: This technique includes \"reverse J\" shaped skin incision with nonintersecting the shun's hardware and distal catheter and to be reduced the wound problems to the minimum rates by opening \"bone groove\"...
July 11, 2017: Turkish Neurosurgery
https://www.readbyqxmd.com/read/28919366/prevalence-and-risk-factors-for-fragility-fracture-in-systemic-mastocytosis
#10
Yannick Degboé, Marine Eischen, Delphine Nigon, Pol-André Apoil, Claire Mailhol, Emilie Tournier, Camille Laurent, Katia Hanssens, Olivier Hermine, Carle Paul, Michel Laroche, Cristina Bulai-Livideanu
OBJECTIVES: Systemic mastocytosis (SM) is characterized by the accumulation of mast cells in tissues other than the skin. Bone involvement although frequent has not been thoroughly evaluated. Primary objective was to determine risk factors associated with fragility fractures (FF) in SM. Secondary objectives were to evaluate the ability of bone marrow tryptase (BMT) level to identify patients with FF, and to describe bone involvement in SM. METHODS: We analyzed retrospectively all consecutive patients seen in our expert center, with a diagnosis of SM according to the 2001 WHO criteria, and with complete bone assessment...
September 14, 2017: Bone
https://www.readbyqxmd.com/read/28906340/contemporary-approach-to-joint-hypermobility-and-related-disorders
#11
Marco Castori, Alan Hakim
PURPOSE OF REVIEW: Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults. RECENT FINDINGS: Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility...
September 12, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28838299/peculiarities-of-feline-hyperadrenocorticism-update-on-diagnosis-and-treatment
#12
Lara A Boland, Vanessa R Barrs
Practical relevance: Hyperadrenocorticism (HAC) is a relatively uncommon endocrinopathy of older cats, with a mean age at diagnosis of 10 years. In addition to pituitary-dependent and adrenal-dependent hypercortisolism, clinical signs of HAC can result from adrenal sex steroid-producing tumours. Clinical challenges: While HAC in cats has many similarities to canine HAC, there are key differences in presentation, diagnosis and response to therapy. Most, but not all, cats with HAC have concurrent diabetes mellitus, which is often insulin resistant...
September 2017: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/28836281/periodontal-manifestations-of-ehlers-danlos-syndromes-a%C3%A2-systematic-review
#13
Ines Kapferer-Seebacher, Pernilla Lundberg, Franziska Malfait, Johannes Zschocke
AIM: Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Periodontal EDS (pEDS) is a specific EDS subtype caused by heterozygous mutations in complement 1 subunit genes C1R and C1S, with early severe periodontitis as predominant clinical feature. We aimed to systematically assess the spectrum of periodontal abnormalities in all EDS subtypes. MATERIALS AND METHODS: An electronic and manual search was conducted in three databases (Medline, LIVIVO, CENTRAL)...
August 23, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28836099/cutaneous-manifestations-of-small-vessel-leukocytoclastic-vasculitides-in-childhood
#14
REVIEW
Sebastiano A G Lava, Gregorio P Milani, Emilio F Fossali, Giacomo D Simonetti, Carlo Agostoni, Mario G Bianchetti
In childhood, cutaneous small-vessel vasculitides include Henoch-Schönlein syndrome, a systemic vasculitis, and Finkelstein-Seidlmayer syndrome, a skin-limited vasculitis. Both Henoch-Schönlein and Finkelstein-Seidlmayer syndromes are seen more frequently in white or Asian compared with black children and occur especially in winter and spring with a male-to-female ratio of approximately 2:1. In everyday clinical practice, both conditions are diagnosed on clinical grounds without histological confirmation...
August 24, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#15
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28805934/fragility-of-epidermis-acne-and-post-procedure-lesional-skin
#16
G Fabbrocini, A B Rossi, M-D Thouvenin, C Peraud, V Mengeaud, A Bacquey, M Saint Aroman
'Fragile skin', or skin with lower resistance to aggressors, can be broadly classified into four causal categories: constitutional (age-dependent or associated with specific vulnerable locations on the body, e.g. eyelids), pathological (related to disease), circumstantial (related to environmental or internal factors, e.g. stress) and iatrogenic (caused by medical interventions or treatments). In this supplement, we focus on the fourth category, the iatrogenic origin of fragile skin and the role that dermo-cosmetics can have in restoring the natural protective function of the skin following treatments for skin diseases and medical interventions...
September 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28768499/simultaneous-primary-invasive-cutaneous-aspergillosis-in-two-preterm-twins-case-report-and-review-of-the-literature
#17
Floriane Gallais, Julie Denis, Olfa Koobar, Laurence Dillenseger, Dominique Astruc, Raoul Herbrecht, Ermanno Candolfi, Valérie Letscher-Bru, Marcela Sabou
BACKGROUND: Primary invasive cutaneous aspergillosis is a rare fungal infection that occurs mostly in immunocompromised patients. Newborns of very low birth weight present a high risk for this type of infection due to an immaturity of the cutaneous barrier and of the immune system. CASE PRESENTATION: We describe here a case of simultaneous invasive cutaneous aspergillosis in two preterm twins. Two male preterm bichorionic biamniotic twins (A & B) were born at a general hospital by spontaneous normal delivery at 24 weeks and 6 days of gestation...
August 2, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28765827/traceless-targeting-and-isolation-of-gene-edited-immortalized-keratinocytes-from-epidermolysis-bullosa-simplex-patients
#18
Magomet Aushev, Ulrich Koller, Claudio Mussolino, Toni Cathomen, Julia Reichelt
Epidermolysis bullosa simplex (EBS) is a blistering skin disease caused by dominant-negative mutations in either KRT5 or KRT14, resulting in impairment of keratin filament structure and epidermal fragility. Currently, nearly 200 mutations distributed across the entire length of these genes are known to cause EBS. Genome editing using programmable nucleases enables the development of ex vivo gene therapies for dominant-negative genetic diseases. A clinically feasible strategy involves the disruption of the mutant allele while leaving the wild-type allele unaffected...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28736162/-skin-engineering-for-severe-burns
#19
J-J Lataillade, B Magne, E Bey, T Leclerc, M Trouillas
Severe burned patients need definitive and efficient wound coverage. Outcome of massive burns has been improved by using cultured epithelial autografts (CEA). Despite fragility, percentages of success take, cost of treatment and long-term tendency to contracture, this surgical technique has been developed in few burn centres. First improvements were to combine CEA and dermis-like substitute. Cultured skin substitutes provide earlier skin closure and satisfying functional result. These methods have been used successfully in massive burns...
July 20, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28734943/deficits-in-col5a2-expression-result-in-novel-skin-and-adipose-abnormalities-and-predisposition-to-aortic-aneurysms-and-dissections
#20
Arick C Park, Noel Phan, Dawiyat Massoudi, Zhenjie Liu, John F Kernien, Sheila M Adams, Jeffrey M Davidson, David E Birk, Bo Liu, Daniel S Greenspan
Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We previously showed that mice homozygous null for the α2(V) gene Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but not a frank cEDS-like phenotype, as skin hyperextensibility at low strain and dermal cauliflower-contoured collagen fibril aggregates, two cEDS hallmarks, were absent...
October 2017: American Journal of Pathology
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