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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
#1
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...
May 23, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28389709/-familial-chilblain-lupus-type-1-interferonopathy-with-model-character
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
January 23, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/27892610/beside-to-bench-jak-inhibitor-ruxolitinib-inhibits-the-expression-of-cytokines-characteristic-of-cutaneous-lupus-erythematosus
#9
Anna Sophie Klaeschen, Dominik Wolf, Peter Brossart, Thomas Bieber, Joerg Wenzel
This study was stimulated by the clinical observation of a rapid response of a chilblain lupus patient to treatment with JAK1/2-kinase inhibitor ruxolitinib. We investigated the in-vivo expression of phospho-JAK2 in CLE skin samples as well as the immunomodulatory in-vitro effect of ruxolitinib in cultured immortalized keratinocytes and in a 3D human epidermis model (epiCS). Our results demonstrate that ruxolitinib significantly decreases the production of CLE-typical cytokines (CXCL10, CXCL9, MxA) and might be a promising drug for future clinical studies in patients with CLE and related autoimmune skin diseases...
November 28, 2016: Experimental Dermatology
https://www.readbyqxmd.com/read/27621162/nifedipine-vs-placebo-for-treatment-of-chronic-chilblains-a-randomized-controlled-trial
#10
Ibo H Souwer, Jacobus H J Bor, Paul Smits, Antoine L M Lagro-Janssen
PURPOSE: Nifedipine is commonly prescribed for the treatment of chilblains (pernio, perniosis) on the basis of observational studies and a single small, older clinical trial. We aimed to confirm the proposed superiority of oral nifedipine 60 mg per day over placebo for treatment of chronic chilblains in primary care. METHODS: We performed a randomized, placebo-controlled, double-blind, crossover trial, closely following the design of the older trial. A total of 32 patients with chronic chilblains were randomly assigned to nifedipine (30 mg controlled release twice a day) or placebo...
September 2016: Annals of Family Medicine
https://www.readbyqxmd.com/read/27604406/the-importance-of-chilblains-as-a-diagnostic-clue-for-mild-aicardi-gouti%C3%A3-res-syndrome
#11
Kevin Yarbrough, Calida Danko, Alfons Krol, Jonathan Zonana, Sabra Leitenberger
Aicardi-Goutières syndrome (AGS) is classically characterized by early-onset encephalopathy. However, in some cases, the presenting symptom of concern may actually be cutaneous rather than neurological, leading to the misdiagnosis of the condition. We report the case of three teenage siblings who presented with a lifetime history of chilblain lesions, only one of whom had notable neurologic deficits. Additional findings included acrocyanosis, Raynaud's phenomenon, low-pitch hoarse voice, headache, and arthritis...
September 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27566796/familial-chilblain-lupus-due-to-a-gain-of-function-mutation-in-sting
#12
Nadja König, Christoph Fiehn, Christine Wolf, Max Schuster, Emanuel Cura Costa, Victoria Tüngler, Hugo Ariel Alvarez, Osvaldo Chara, Kerstin Engel, Raphaela Goldbach-Mansky, Claudia Günther, Min Ae Lee-Kirsch
OBJECTIVES: Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. In a family without TREX1 or SAMHD1 mutation, we sought to determine the causative gene and the underlying disease pathology. METHODS: Exome sequencing was used for disease gene identification. Structural analysis was performed by homology modelling and docking simulations. Type I interferon (IFN) activation was assessed in cells transfected with STING cDNA using an IFN-β reporter and Western blotting...
February 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27408227/the-highest-battlefield-of-the-world-medical-problems-and-solutions
#13
A K Jindal
The Indian Armed Forces Medical Services has been engaged in providing medical to the soldiers serving on Siachen Glacier for the last 25 years. This paper attempts to highlight the medical problems faced by troops on the world's highest battlefield as perceived by a medical officer located on the forward most medical echelon on Siachen Glacier. The medical problems on the glacier include high altitude pulmonary oedema, acute mountain sickness, frost bite chilblains, hypothermia, snow blindness, injury non enemy action due to avalanches, crevasses and fires, carbon monoxide poisoning and problems in disposal of nightsoil...
April 2009: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/27382984/phenotypic-familial-aggregation-in-chronic-chilblains
#14
Ibo H Souwer, Deborah Smaal, Jacobus H J Bor, Nine Knoers, Antoine L M Lagro-Janssen
BACKGROUND: Our clinical observations and two earlier studies indicate familial clustering to be involved in chronic chilblains. Demonstrating phenotypic familial aggregation is a next step to investigate the origin of familial clustering. OBJECTIVE: This study was initiated to assess evidence for phenotypic familial aggregation in chronic chilblains. METHODS: Using a case-control family design in a primary care setting, we computed the familial relative risk of at least one episode of chronic chilblains during life with 95% confidence intervals (CIs)...
October 2016: Family Practice
https://www.readbyqxmd.com/read/27260006/type-i-interferonopathies-in-pediatric-rheumatology
#15
REVIEW
Stefano Volpi, Paolo Picco, Roberta Caorsi, Fabio Candotti, Marco Gattorno
Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis...
June 4, 2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27105770/severe-recalcitrant-cutaneous-manifestations-in-systemic-lupus-erythematosus-successfully-treated-with-fumaric-acid-esters
#16
A M Saracino, C H Orteu
Fumaric acid esters (FAEs) have proven efficacy in the treatment of psoriasis and have been in use for decades. More recently, as their mechanism of action and abundant immunomodulatory effects become clearer, the potential benefits of treating other inflammatory skin conditions using FAEs are increasingly being recognized. The use of FAEs as combination systemic therapy has not been well studied and data are lacking regarding the safety and efficacy of this type of therapy. In this case report, three patients with severe, extensive and recalcitrant cutaneous manifestations of systemic lupus erythematosus (SLE) (one case of disseminated discoid lesions and two with severe chilblain lesions) were treated with Fumaderm(®) (containing the FAE dimethylfumarate and monoethylhydrogen fumarate salts), after failing to respond to a multitude of other monotherapies and combination therapies...
February 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/27095810/chilblain-like-leukaemia-cutis
#17
Chi Tran, Gary McEwen, Garth Robert Fraga
Chilblain, also known as pernio, is an abnormal inflammatory response to cold, moist environmental conditions. Persistent or atypical lesions should prompt investigation to exclude underlying systemic illness. We describe a case of acute myeloid leukaemia that presented with chilblain-like leukaemia cutis.
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27091617/-lumbar-sympathectomy-literature-review-over-the-past-15-years
#18
REVIEW
M Pekař, M Mazur, A Pekařová, J Kozák, A Foltys
INTRODUCTION: Lumbar sympathectomy (LS) irreversibly damages a part of the sympathetic trunk and adjacent ganglia between L1 and L5, typically between L2 and L4. The first LS was performed in 1923. Initially, it used to be performed very often; however, with the progress of vascular and endovascular surgery its importance gradually continues to decline. The aim of the paper is to present literature review focusing on LS over the past 15 years. METHOD: Literature review of 113 academic articles found in academic journal databases...
March 2016: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/27061329/seasonal-variations-in-dermatologic-and-dermatopathologic-diagnoses-a-retrospective-15-year-analysis-of-dermatopathologic-data
#19
Jeff D Harvell, Daniel J Selig
BACKGROUND: Certain dermatologic conditions are known to show seasonal variations in frequency, the reasons for which are unclear but in some cases may be attributable to changes in ambient weather conditions. OBJECTIVES: The current study was conducted to determine whether seasonal trends might exist for dermatologic conditions including erythema multiforme, guttate psoriasis, erythema dyschromicum perstans (ashy dermatosis), pityriasis lichenoides, and pityriasis rosea...
October 2016: International Journal of Dermatology
https://www.readbyqxmd.com/read/27031551/perniosis-a-case-report-with-literature-review
#20
REVIEW
Joseph S Baker, Sarnarendra Miranpuri
Perniosis, or chilblain, is an uncommon condition of the acral skin. Presented herein is a case report of a 65-year-old otherwise healthy construction worker with perniosis. He had a 3-year history of lesions on the fingers and toes brought on by cold, damp weather. On initial presentation, a biopsy sample was taken of a hallux lesion, and the patient was given a trial course of nifedipine therapy. Follow-up at 3 weeks showed complete relief of symptoms with nifedipine use, and the biopsy results confirmed the diagnosis...
March 2016: Journal of the American Podiatric Medical Association
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