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https://www.readbyqxmd.com/read/29434682/drug-induced-rowell-syndrome-a-rare-and-difficult-to-manage-disease-a-case-report
#1
Daciana Elena Brănișteanu, Simona Laura Ianoşi, Andreea Dimitriu, Gabriela Stoleriu, Alexandru Oanţǎ, Daniel Constantin Brănișteanu
Rowell syndrome is defined as the association between lupus erythematosus, erythema multiforme-like lesions and characteristic immunological changes including positive tests for rheumatoid factor, speckled antinuclear antibody, positive anti-Ro or anti-La antibodies. The present report presents the case of a 45-year-old female patient who was previously diagnosed in January 2010 with terbinafine-induced subacute cutaneous lupus erythematosus and was admitted for a skin eruption consisting of erythematous-papular erythema multiforme-like lesions, primarily on the trunk and limbs...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29402117/-renaissance-medicine-and-the-discovery-of-the-lesser-circulation-the-role-of-michael-servetus-1511-1553
#2
REVIEW
Nicola Luigi Bragazzi, Alessandro Raffi, Anna Siri, Cristina Tornali, Mariano Martini
Human urine is currently the subject of biomedical investigations as a potential therapeutic resource and it continues to be used in remedies in different cultures and societies, including the Spanish culture. In this study we gather etnomedical knowledge about urotherapy and determine their associated symbolisms in Spain. A literature overview and a case study were carried out to compile urine-based remedies and as a direct analysis of symbolic systems. Urotherapy is widespread in Spanish folk medicine. Among the 204 collected remedies, those related to treatment of diseases or skin conditions predominate (63%)...
December 2017: Acta Medico-historica Adriatica: AMHA
https://www.readbyqxmd.com/read/29341198/aicardi-gouti%C3%A3-res-syndrome-cold-induced-acral-blemish-is-not-always-cryoglobulinaemic-vasculitis-or-chilblain-lupus
#3
S Singh, N Taneja, P Bala, K K Verma, L S J Devarajan
No abstract text is available yet for this article.
January 17, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29318596/idiopathic-chilblains-in-myelomonocytic-leukemia-not-a-simple-association
#4
Gianluca Nazzaro, Giovanni Genovese, Angelo V Marzano
No abstract text is available yet for this article.
January 10, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29277929/recurrent-chilblains-in-a-child-with-neurological-impairment
#5
P Mohandas, R Bowker, J Ravenscroft, T Bleiker
No abstract text is available yet for this article.
December 26, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28919362/a-homozygote-trex1-mutation-in-two-siblings-with-different-phenotypes-chilblains-and-cerebral-vasculitis
#6
Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Derya Ufuk Altintas, Mustafa Yilmaz
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28913687/non-atherosclerotic-vascular-disease-in-women
#7
REVIEW
Lee Joseph, Esther S H Kim
Takayasu arteritis, fibromuscular dysplasia (FMD), spontaneous arterial dissection, Raynaud's phenomenon, and chilblains are vascular conditions that are associated with an increased predisposition in women and are often underdiagnosed. Takayasu arteritis has an incidence rate of 2.6 cases per million individuals per year in the USA and predominantly affects women of childbearing age. HLA-B5 genetic locus is linked with Takayasu arteritis susceptibility. Methods to determine active disease are limiting; currently utilized clinical and imaging findings and laboratory tests are of limited value for this purpose...
September 14, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28844088/familial-chilblain-lupus-what-can-we-learn-from-type-i-interferonopathies
#8
REVIEW
Christoph Fiehn
PURPOSE OF REVIEW: Familial chilblain lupus belongs to the group of type I interferonopathies and is characterized by typical skin manifestations and acral ischaemia. This review aims to give an overview of clinical signs and the pathophysiological mechanisms. RECENT FINDINGS: There are several mutations that can lead to this autosomal dominant disease. Most frequent is a mutation of the gene for TREX-1. However, as well cases of families with mutations in the SAMHD1 gene and, recently, with one for the gene that codes for the protein stimulator of interferon genes have been described...
August 26, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28808969/methods-of-assessing-sting-activation-and-trafficking
#9
Vladislav Pokatayev, Nan Yan
The signaling adapter protein STING is crucial for the host immune response to cytosolic DNA and cyclic dinucleotides. Under basal conditions, STING resides on the endoplasmic reticulum (ER ) , but upon activation, it traffics through secretory pathway to cytoplasmic vesicles, where STING activates downstream immune signaling. Classical STING activation and trafficking are triggered by binding of cyclic dinucleotide ligands. STING signaling can also be activated by gain-of-function mutations that lead to constitutive trafficking of STING...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28770006/categorisation-of-foot-complaints-in-systemic-lupus-erythematosus-sle-from-a-new-zealand-cohort
#10
Simon J Otter, Maheswaran Rohan, Kevin A Davies, Sunil Kumar, Peter Gow, Nicola Dalbeth, Michael Corkill, Sam Panthakalam, Keith Rome
BACKGROUND: Foot complaints have been shown to be common in systemic lupus erythematosus (SLE) and heterogeneous in nature. We aimed to categorize self-reported foot complaints in people with SLE and foot symptoms. METHODS: A self-administered validated questionnaire was posted to 406 people with SLE attending adult rheumatology clinics across three health boards in Auckland, New Zealand. In addition to foot pain, vascular complaints, dermatological lesions and neurological symptoms were included in the analysis...
2017: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/28767264/human-urine-based-therapeutics-in-spain-from-the-early-20th-century-to-the-present-a-historical-literature-overview-and-a-present-day-case-study
#11
REVIEW
José Ramón Vallejo, Alfonso J Aparicio Mena, José Antonio González
Human urine is currently the subject of biomedical investigations as a potential therapeutic resource and it continues to be used in remedies in different cultures and societies, including the Spanish culture. In this study we gather etnomedical knowledge about urotherapy and determine their associated symbolisms in Spain. A literature overview and a case study were carried out to compile urine-based remedies and as a direct analysis of symbolic systems. Urotherapy is widespread in Spanish folk medicine. Among the 204 collected remedies, those related to treatment of diseases or skin conditions predominate (63%)...
June 2017: Acta Medico-historica Adriatica: AMHA
https://www.readbyqxmd.com/read/28719438/comparative-analysis-of-chilblain-lupus-erythematosus-and-idiopathic-perniosis-histopathologic-features-and-immunohistochemistry-for-cd123-and-cd30
#12
Michael L Wang, May P Chan
Distinction of chilblain lupus erythematosus (CLE) from idiopathic perniosis (IP) could predict an underlying connective tissue disease; however, histopathologic discrimination of the two is difficult. Increased CD123 plasmacytoid dendritic cells and CD30 lymphocytes have been demonstrated in various forms of cutaneous lupus erythematosus and IP, respectively. To our knowledge, CD123 and CD30 have not been examined in CLE. Our objective was to identify helpful histopathologic and immunohistochemical features in distinguishing CLE and IP...
July 14, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28543432/clinically-amyopathic-dermatomyositis-with-rapidly-progressive-interstitial-pneumonia-the-relation-between-the-disease-activity-and-the-serum-interleukin-6-level
#13
Hazuki Yasuda, Takaharu Ikeda, Yasuhito Hamaguchi, Fukumi Furukawa
A 67-year-old woman exhibited chilblain-like erythema on the bilateral auricles, erythema with hyperkeratosis on the sides of fingers and the bilateral elbows, and erythema on the extensor/flexor sides of the finger joints and the iliac regions. Fine crackles were audible on the dorsal side of the bilateral lower lung regions. We diagnosed clinically amyopathic dermatomyositis accompanied by rapidly progressive interstitial pneumonia. While we initiated immunosuppressive therapy, the respiratory failure showed no responses...
October 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28389709/-familial-chilblain-lupus-type-1-interferonopathy-with-model-character
#14
REVIEW
C Fiehn
Familial chilblain lupus belongs to the group of type 1 interferonopathies and is particularly characterized by typical skin manifestations and ischemia of the acra. There are various mutations that can lead to this autosomal dominant disease. A mutation in the TREX-1 gene has been most frequently found; however, families with mutations in the SAMHD1 gene and recently in the gene which codes for the stimulator of interferon genes (STING) protein were also described. A common feature of these genetic defects is that they are all involved in the process of detection of intracellular free DNA, which as a result leads to increased production of type 1 interferons and the induced gene products...
May 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28334850/aicardi-gouti%C3%A3-res-syndrome-protein-trex1-suppresses-l1-and-maintains-genome-integrity-through-exonuclease-independent-orf1p-depletion
#15
Peng Li, Juan Du, John L Goodier, Jingwei Hou, Jian Kang, Haig H Kazazian, Ke Zhao, Xiao-Fang Yu
Maintaining genome integrity is important for cells and damaged DNA triggers autoimmunity. Previous studies have reported that Three-prime repair exonuclease 1(TREX1), an endogenous DNA exonuclease, prevents immune activation by depleting damaged DNA, thus preventing the development of certain autoimmune diseases. Consistently, mutations in TREX1 are linked with autoimmune diseases such as systemic lupus erythematosus, Aicardi-Goutières syndrome (AGS) and familial chilblain lupus. However, TREX1 mutants competent for DNA exonuclease activity are also linked to AGS...
May 5, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28332073/aicardi-gouti%C3%A3-res-syndrome-unusual-neuro-radiological-manifestations
#16
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, Sherif F Abdel-Ghafar, Doaa R Soliman, Hala T El-Bassyouni, Laila Effat, Maha S Zaki
Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle. The brain MRI of the older sister showed marked ventricular dilatation as a result of unusual associated porencephalic cysts...
June 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28322475/a-case-of-chilblain-lupus-erythematosus-with-lupus-erythematosus-lichen-planus-overlap-syndrome
#17
LETTER
T Komori, A Otsuka, T Honda, Y Kaku, K Kabashima
No abstract text is available yet for this article.
March 21, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28216727/high-altitude-dermatology
#18
Lt Col G K Singh
Approximately, 140 million people worldwide live permanently at high altitudes (HAs) and approximately another 40 million people travel to HA area (HAA) every year for reasons of occupation, sports or recreation. In India, whole of Ladakh region, part of Northwest Kashmir, Northern part of Sikkim and Tenga valley of Arunachal are considered inhabited areas of HAA. The low quantity of oxygen, high exposure of ultraviolet (UV) light, very low humidity, extreme subzero temperature in winter, high wind velocity, make this region difficult for lowlanders as well as for tourists...
January 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28193616/assessing-the-effectiveness-of-topical-betamethasone-to-treat-chronic-chilblains-a-randomised-clinical-trial-in-primary-care
#19
RANDOMIZED CONTROLLED TRIAL
Ibo H Souwer, Jacobus Hj Bor, Paul Smits, Antoine Lm Lagro-Janssen
BACKGROUND: GPs prescribe topical corticosteroids to patients with chronic chilblains despite poor evidence for their effectiveness. The authors of the current study therefore decided to assess the effectiveness of topical steroids in a primary care setting. AIM: To assess the effectiveness of topical application of betamethasone valerate 0.1% cream in patients with chronic chilblains. DESIGN AND SETTING: A placebo-controlled, double-blind, crossover, randomised clinical trial in a Dutch primary care setting...
March 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/28112801/efficacy-and-comparison-of-antimalarials-in-cutaneous-lupus-erythematosus-subtypes-a-systematic-review-and-meta-analysis
#20
F Chasset, J-D Bouaziz, N Costedoat-Chalumeau, C Francès, L Arnaud
BACKGROUND: The antimalarials (AMs) hydroxychloroquine (HCQ) and chloroquine (CQ) have demonstrated variable cutaneous response rates in cutaneous lupus erythematosus (CLE). OBJECTIVES: We sought to assess the global cutaneous response rates to HCQ and CQ, with respect to CLE subtypes, based on previously published studies. METHODS: We performed a systematic review and meta-analysis of studies published in MEDLINE, Embase and the Cochrane Library between 1965 and December 2015...
July 2017: British Journal of Dermatology
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