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Skin fragility

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https://www.readbyqxmd.com/read/29210715/blistering-and-skin-fragility-due-to-imatinib-therapy-loss-of-laminin-and-collagen-iv-as-a-possible-cause-of-cutaneous-basement-membrane-instability
#1
Sebastian Mühl, Jan Ehrchen, Dieter Metze
Imatinib mesylate (Glivec; Novartis AG, Basel, Switzerland) is a tyrosine kinase inhibitor which is used in the treatment of oncologic diseases like chronic myeloid leukemia and gastrointestinal stroma tumor (GIST). Among cutaneous side effects, bullous reactions are rare. The authors describe the case of a 66-year-old woman developing blistering and skin fragility on her hands, foot, lower legs, and back after intake of imatinib for treatment of GIST. Biopsy showed vacuolar alteration at the dermoepidermal junction (DEJ) associated with a few lymphocytes and a subepidermal blister...
November 22, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29206923/vascular-abnormalities-in-the-placenta-of-chst14-fetuses-implications-in-the-pathophysiology-of-perinatal-lethality-of-the-murine-model-and-vascular-lesions-in-human-chst14-d4st1-deficiency
#2
Takahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, Shin Shimada, Kazuyuki Sugahara, Jun Nakayama, Shin'ichi Takeda, Yoshihiro Nomura, Yuko Nitahara-Kasahara, Takashi Okada, Kiyoshi Matsumoto, Shuhei Yamada, Tomoki Kosho
Collagen is one of the most important components of the extracellular matrix that is involved in the strength of tissues, cell adhesion, and cell proliferation. Mutations in several collagen and post-translational modification enzyme genes cause Ehlers-Danlos syndrome (EDS) characterized by joint and skin hyperextensibility as well as fragility of various organs. Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) is a critical enzyme for biosynthesis of dermatan sulfate, a side chain of various proteoglycans including biglycan that regulates collagen fibrils through their interaction...
December 1, 2017: Glycobiology
https://www.readbyqxmd.com/read/29203033/recessive-dystrophic-epidermolysis-bullosa-and-pregnancy
#3
F Boria, R Maseda, M Martín-Cameán, M De la Calle, R de Lucas
Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain...
December 1, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29197867/topical-coconut-oil-in-very-preterm-infants-an-open-label-randomised-controlled-trial
#4
Tobias Strunk, Sameer Pupala, Julie Hibbert, Dorota Doherty, Sanjay Patole
BACKGROUND: The immature fragile skin of preterm infants represents an inadequate protective barrier. The emollient and anti-infective properties of coconut oil make it a potentially beneficial topical agent for this population. OBJECTIVES: Our aim was to evaluate feasibility, safety, and the effects of topical coconut oil on skin condition in very preterm infants. METHODS: An open-label randomised controlled trial in preterm infants <30 weeks' gestation was conducted...
December 1, 2017: Neonatology
https://www.readbyqxmd.com/read/29192600/magazines-in-waiting-areas-of-hospital-a-forgotten-microbial-reservoir
#5
Mathias Adé, Sandrine Burger, Anaelle Cuntzmann, Julien Exinger, Olivier Meunier
The hospital environment is a potential source of microbial contamination. Thus, the magazines in hospital's waiting rooms are handled by patients and visitors whose health and hygiene conditions can vary widely. In this context, we had measured the microbial load on the surface of magazines. Fifteen magazines from 5 waiting rooms of hospital are sampled by agar prints at the areas taken in hand. The agar plates are incubated at 30̊C for 72h. The colonies are counted and identified by MALDI-TOF mass spectrometry (Vitek®-MS)...
December 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29180129/genetic-diagnosis-of-epidermolysis-bullosa-recommendations-from-an-expert-spanish-research-group
#6
C Sánchez-Jimeno, M J Escámez, C Ayuso, M J Trujillo-Tiebas, M Del Río
Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types-simplex, junctional, dystrophic, and Kindler syndrome-and 30 subtypes. The disease is caused by defects in proteins implicated in dermal-epidermal adhesion. At least 19 genes have been characterized and more than 1000 mutations identified, thus rendering diagnosis complex...
November 24, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29152226/an-overview-of-the-cutaneous-porphyrias
#7
REVIEW
Robert Dawe
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. All the cutaneous porphyrias can have (either as a consequence of the porphyria or as part of the cause of the porphyria) involvement of other organs as well as the skin...
2017: F1000Research
https://www.readbyqxmd.com/read/29148129/development-of-functional-electrical-stimulation-rowing-the-rowstim-series
#8
Brian Andrews, Robin Gibbons, Garry Wheeler
Potentially, functional electrical stimulation (FES)-assisted exercise may have an important therapeutic role in reducing comorbidities associated with spinal cord injury (SCI). Here, we present an overview of these secondary life-threatening conditions, discuss the rationale behind the development of a hybrid exercise called FES rowing, and describe our experience in developing FES rowing technology. FES rowing and sculling are unique forms of adaptive rowing for those with SCI. The paralyzed leg musculature is activated by multiple channels of electrical pulses delivered via self-adhesive electrodes attached to the skin...
November 2017: Artificial Organs
https://www.readbyqxmd.com/read/29139486/simple-and-rapid-colorimetric-detection-of-melanoma-circulating-tumor-cells-using-bifunctional-magnetic-nanoparticles
#9
Junrong Li, Jing Wang, Yuling Wang, Matt Trau
Circulating tumor cells (CTCs) are a promising biomarker for monitoring cancer metastasis and therapy response. However, the rarity and inherent fragility of CTCs pose great challenges for CTC detection. Currently, CTC detection requires advanced instruments that might be inaccessible in most hospitals or labs. To allow simple and rapid CTC detection, we propose a sensor platform that relies only on the intrinsic properties of magnetic nanoparticles (MNPs) including rapid separation as well as nanozyme activity...
November 15, 2017: Analyst
https://www.readbyqxmd.com/read/29138594/prevention-and-treatment-of-acute-and-chronic-radiodermatitis
#10
Sophie Seité, René-Jean Bensadoun, Jean-Michel Mazer
More than half the number of patients with cancer, who are treated with radiotherapy, will have radiodermatitis at some point during their treatment. Radiodermatitis either occurs early on in the treatment period or appears months or up to several years later. Acute radiodermatitis is a burn injury that varies in severity according to both treatment and inherent patient factors. Most acute radiodermatitis reactions resolve after several weeks but some reactions persist and can cause complications. Late-onset radiodermatitis is characterized by telangiectasia that forms on atrophic and fragile skin...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/29138120/recessive-mutation-in-tetraspanin-cd151-causes-kindler-syndrome-like-epidermolysis-bullosa-with-multi-systemic-manifestations-including-nephropathy
#11
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Hamid Reza Mahmoudi, Andrew Touati, Maryam Abiri, Abdol-Mohammad Kajbafzadeh, Sophia Aristodemou, Lu Liu, John A McGrath, Adam Ertel, Eric Londin, Ariana Kariminejad, Sirous Zeinali, Paolo Fortina, Jouni Uitto
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanen CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. In one family, a homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T>C) at the exon 5/intron 5 border was identified, and RT-PCR and whole transcriptome analysis by RNA-seq confirmed deletion of the entire exon 5 encoding 25 amino acids...
November 11, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29131317/molecular-photoprotection-of-human-keratinocytes-in-vitro-by-the-naturally-occurring-mycosporine-like-amino-acid-maa-palythine
#12
K P Lawrence, R Gacesa, P F Long, A R Young
BACKGROUND: Solar ultraviolet radiation (UVR) induces molecular and genetic changes in the skin, which result in skin cancer, photoageing and photosensitivity disorders. The use of sunscreens is advocated to prevent such photodamage, however most formulations contain synthetic UVR filters that are non-biodegradable and can damage fragile marine ecosystems. Mycosporine-like amino acids (MAA) are natural UVR-absorbing compounds that have evolved in marine species for protection against chronic UVR exposure in shallow-water habitats...
November 13, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29096685/clinical-spectrum-of-woolly-hair-indications-for-cerebral-involvement
#13
Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D Praticò, Martino Ruggieri
BACKGROUND: Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wooly hair is usually benign and is not related to other disorders and/or complications. On the contrary, the generalized type may be related to disorders and syndromes affecting heart, cutis, liver and gastrointestinal organs. Among the syndromes presenting with wooly hair, the most known are the Naxos syndrome, the Carvajal-Huerta syndrome, the wooly hair/hypotrichosis, the ectodermal dysplasia-skin fragility, the tricho-hepato-enteric syndrome...
November 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29058556/feasibility-of-a-miniature-esophageal-heat-exchange-device-for-rapid-therapeutic-cooling-in-newborns-preliminary-investigations-in-a-piglet-model
#14
John Dingley, Satomi Okano, Silvia Planas, Elavazhagan Chakkarapani
Therapeutic hypothermia (TH) after neonatal encephalopathy, commonly provided by 72 hours of whole-body cooling using a wrap, limits parents' physical contact with their infants affecting bonding and may not be suitable for encephalopathic preterm infants with fragile skin. Alternative cooling methods are unavailable for this population. We investigated in a neonatal pig model the feasibility of achieving a 3.5°C reduction in rectal temperature (Trectal) similar to clinical TH protocols from 38.5°C (normothermia for pigs) to a target of 35°C ± 0...
October 23, 2017: Therapeutic Hypothermia and Temperature Management
https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#15
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...
December 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
#16
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
#17
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
#18
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...
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
#19
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
#20
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
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