keyword
MENU ▼
Read by QxMD icon Read
search

Skin fragility

keyword
https://www.readbyqxmd.com/read/28647894/keratin-gene-mutations-influence-the-keratinocyte-response-to-dna-damage-and-cytokine-induced-apoptosis
#1
Tina Zupancic, Gregor Sersa, Hans Törmä, Ellen Birgitte Lane, Harald Herrmann, Radovan Komel, Mirjana Liovic
The keratin filament cytoskeleton is vital to the normal function of epithelial cells. It provides structural support and regulates different aspects of cell metabolism. Mutations in keratins 5 and 14 cause a skin fragility disorder, epidermolysis bullosa simplex (EBS). Patients with severe EBS have an increased cumulative risk for basal cell carcinoma. In this study, we tested how keratin 5 and 14 mutant EBS patient-derived keratinocytes behave in the face of two different types of stressors that are able to induce cell death: ionizing radiation and cytokines TNF-α and TRAIL...
June 24, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28641957/kindler-syndrome-complicated-by-invasive-squamous-cell-carcinoma-of-the-palate
#2
H Souldi, M Y Bajja, M Mahtar
INTRODUCTION: Kindler syndrome is a very rare, autosomal recessive genodermatosis characterized by skin fragility and photosensitivity in infancy with progressive poikiloderma. CASE REPORT: We report the case of a young woman with a history of Kindler syndrome predominantly characterized by extensive involvement of the oropharyngeal mucosa. The patient presented with an ulcerative lesion of the palate. Computed tomography and biopsy concluded on unresectable invasive squamous cell carcinoma of the hard palate...
June 19, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28640219/topical-application-of-trisodium-ascorbyl-6-palmitate-2-phosphate-actively-supplies-ascorbate-to-skin-cells-in-an-ascorbate-transporter-independent-manner
#3
Shuichi Shibuya, Ikuyo Sakaguchi, Shintaro Ito, Eiko Kato, Kenji Watanabe, Naotaka Izuo, Takahiko Shimizu
Ascorbic acid (AA) possesses multiple beneficial functions, such as regulating collagen biosynthesis and redox balance in the skin. AA derivatives have been developed to overcome this compound's high fragility and to assist with AA supplementation to the skin. However, how AA derivatives are transferred into cells and converted to AA in the skin remains unclear. In the present study, we showed that AA treatment failed to increase the cellular AA level in the presence of AA transporter inhibitors, indicating an AA transporter-dependent action...
June 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28612338/nutritional-rickets-and-osteomalacia-in-the-twenty-first-century-revised-concepts-public-health-and-prevention-strategies
#4
REVIEW
Suma Uday, Wolfgang Högler
PURPOSE OF REVIEW: Nutritional rickets and osteomalacia are common in dark-skinned and migrant populations. Their global incidence is rising due to changing population demographics, failing prevention policies and missing implementation strategies. The calcium deprivation spectrum has hypocalcaemic (seizures, tetany and dilated cardiomyopathy) and late hypophosphataemic (rickets, osteomalacia and muscle weakness) complications. This article reviews sustainable prevention strategies and identifies areas for future research...
June 13, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28611842/betulin-based-oleogel-to-improve-wound-healing-in-dystrophic-epidermolysis-bullosa-a-prospective-controlled-proof-of-concept-study
#5
Agnes Schwieger-Briel, Dimitra Kiritsi, Christoph Schempp, Cristina Has, Hauke Schumann
INTRODUCTION: Skin fragility and recurrent wounds are hallmarks of hereditary epidermolysis bullosa (EB). Treatment options to accelerate wound healing are urgently needed. Oleogel-S10 contains a betulin-rich triterpene extract from birch bark. In this study, we tested the wound healing properties of topical Oleogel-S10 in patients with dystrophic EB. METHODS: We conducted an open, blindly evaluated, controlled, prospective phase II pilot trial in patients with dystrophic EB (EudraCT number 2010-019945-24)...
2017: Dermatology Research and Practice
https://www.readbyqxmd.com/read/28592938/thermal-burn-in-a-30-minute-old-newborn-report-on-the-youngest-patient-with-iatrogenic-burn-injury
#6
L Abboud, G Ghanimeh
Burns in infants are rare. The majority of neonatal burns occur in the hospital setting. The immaturity of their immune system, their fragile and thin skin, difficulties in resuscitation, engraftment paucity limited by donor sites, and long-term complications make taking care of burned newborns extremely difficult. We present the case of a newborn burned 30 minutes after his birth over a total body surface of 35%, when the hot water bottle used in the hospital accidentally burst. This is the earliest iatrogenic burn in a newborn reported to date...
March 31, 2017: Annals of Burns and Fire Disasters
https://www.readbyqxmd.com/read/28584224/erratum-ectodermal-dysplasia-skin-fragility-syndrome-with-a-new-mutation
#7
(no author information available yet)
[This corrects the article DOI: 10.4103/ijdvl.IJDVL_411_16].
July 2017: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/28561874/a-review-of-52-pedigrees-with-epidermolysis-bullosa-simplex-identifying-ten-novel-mutations-in-krt5-and-krt14-in-australia
#8
Emma N Kim, Adam G Harris, Linda J Bingham, Wenfei Yan, John C Su, Dedee F Murrell
Epidermolysis bullosa simplex (EBS) is a rare heritable skin fragility disorder, most commonly caused by dominant mutations in KRT5 and KRT14. EBS shows clinical heterogeneity with localised, intermediate and generalised severe forms, which tend to correlate with the location and nature of the disease causing mutations. We therefore aimed to identify the KRT5 and KRT14 mutations in patients diagnosed with EBS in Australia, and explore in depth the genotype to the phenotype correlations in patients with novel variants...
May 31, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28560784/reversible-and-cachexia-associated-feline-skin-fragility-syndrome-in-three-cats
#9
Nicla Furiani, Ilaria Porcellato, Chiara Brachelente
BACKGROUND: Feline skin fragility syndrome (FSFS) is an acquired disorder characterized by altered collagen production resulting in an extremely thin and fragile skin. FSFS is associated with diseases characterized by excessive steroidal hormones that can inhibit collagen synthesis. It is also described concomitantly with severe inflammatory, infectious or neoplastic conditions where the pathogenesis remains largely unknown. OBJECTIVES: To describe three cases of FSFS in cats that become cachectic secondary to different causes without glucocorticoid involvement...
May 31, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28554884/ichthyosis-linearis-circumflexa-with-bamboo-hair-challenges-in-the-diagnosis-and-management
#10
Tanvi Dev, Marwaha Raman Kumar, Gomathy Sethuraman
A 15-year-old boy had persistent and refractory erythroderma since early childhood. His parents noticed polycyclic skin lesions and hair fragility around the age of 5 years. He was treated by a local untrained practitioner for more than 3 years without any significant improvement, and he developed weight gain, thinning of skin, muscle weakness and growth retardation. He was evaluated in 2015 and found to have iatrogenic Cushing's disease with severe skeletal complications and pituitary-adrenal-gonadal suppression, which persisted despite gradual withdrawal of steroids...
May 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28549954/amlexanox-enhances-premature-termination-codon-read-through-in-col7a1-and-expression-of-full-length-type-vii-collagen-potential-therapy-for-recessive-dystrophic-epidermolysis-bullosa
#11
Velina S Atanasova, Qiujie Jiang, Marco Prisco, Christina Gruber, Josefina Piñón Hofbauer, Mei Chen, Cristina Has, Leena Bruckner-Tuderman, John A McGrath, Jouni Uitto, Andrew P South
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis. 46% of RDEB patients harbor at least one premature termination codon (PTC) mutation in COL7A1 and previous studies have shown that aminoglycosides are able to overcome RDEB PTC mutations by inducing "read-through" and incorporation of an amino acid at the PTC site...
May 23, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28548491/deposition-of-a-sorbent-into-a-recession-on-a-solid-support-provides-a-new-mechanically-robust-solid-phase-micro-extraction-device
#12
Justen J Poole, Jonathan J Grandy, Miao Yu, Ezel Boyaci, German A Gomez Rios, Nathaly Reyes-Garcés, Barbara Bojko, Harmen Vander Heide, Janusz Pawliszyn
To date, solid-phase microextraction (SPME) fibers used for in-vivo bio-analysis can be too fragile and flexible, which limits suitability for direct tissue sampling. As a result, these devices often require a sheathing needle to pre-puncture robust sample matrices and protect the extraction phase from mechanical damage. To address this limitation, a new SPME device is herein presented which incorporates an extraction phase recessed into the body of a solid needle. This device requires no additional support or shielding during puncture events through protective tissue...
May 26, 2017: Analytical Chemistry
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
#13
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
#14
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
#15
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
#16
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...
July 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28452281/assessment-prevention-and-management-of-skin-tears
#17
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
#18
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
#19
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
#20
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
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"