Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease

Conclusions: We have shown that severity of MWS symptoms gradually increased with age toward distinct generation-specific phenotypes. A uniform trajectory of disease evolution has encouraged us to postpone institution of IL-1 blockade in affected oligosymptomatic children. This report illustrates importance of close interdisciplinary collaboration. Introduction Cryopyrinopathies (Cryopyrin Associated Periodic Syndromes, CAPS) belong to autoinflammatory disorders with autosomal dominant inheritance caused by the gain-of-function point mutation of NLRP3 (NACHT, LRR, and PYD domains-containing protein 3) gene which encodes cryopyrin and leads to interleukin-1 (IL-1) overproduction (1–3). This is reflected in the newly proposed nomenclature of “NLRP3-associated autoinflammatory diseases” (mild, moderate, severe) (4). Estimated population frequency ranges between 1 and 3 per million (2). The spectrum of its clinical presentation is wide from the mildest Familial Cold Autoinflammatory Syndrome (FCAS) across Muckle-Wells Syndrome (MWS) to the most severe Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome (5). Early onset urticarial rash is a key symptom in all phenotypes (6). Among them, MWS is associated with the high risk of severe complications including hearing loss, vision impairment and AA amyloidosis (7). The latter occurs in as many as 30% of MWS patients (6). Hearing loss initially affecting high sound frequencies may be under reco...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research

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ConclusionIn the future, the survey is to be converted to a mobile accessible application and extended to the entire Paralympic Team.Level of evidence3
Source: Sports Orthopaedics and Traumatology - Category: Sports Medicine Source Type: research
Indian Male, 21 (ORM) from California Top public school in california GPA 3.81, if you factor in enrollment at community colleges it’s closer to 3.86 MCAT 524 (131/132/131/130) Research: about 1200+ hours, with about 600 being school-associated and 600 coming from summer research internships. I’ve done three poster presentations, and have an authorship on a publication in a tiny journal (really not a big deal, there are like 20 authors and im like 15th). Clinical experience: about 300... School list help! High MCAT, mediocre GPA, ORM.
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: What Are My Chances? WAMC Medical Source Type: forums
Publication date: Available online 25 May 2019Source: Journal of Ayurveda and Integrative MedicineAuthor(s): Kannan Muthiah, Kiruthiga Ganesan, Manickam Ponnaiah, Sathiyarajeswaran ParameswaranAbstractAnalysis of body constitution has been in practice in most complementary and alternative systems of medicine. Siddha system of medicine practiced in South India consists of fundamental classical literature that stress on the importance of tri-humoral makeup of individuals. Guidance has been given in the classics for identifying specific types of body constitution, various dietary recommendations and disease susceptibility. In...
Source: Journal of Ayurveda and Integrative Medicine - Category: Complementary Medicine Source Type: research
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Source: AARP.org News - Category: American Health Source Type: news
ConclusionLow reactivity of basophils via FcεRI is characteristic of CSU patients. This attenuated reactivity is associated with severe clinical activity in CSU patients. (250/250)
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
In this study, we found that cofilin competes with tau for direct microtubule binding in vitro, in cells, and in vivo, which inhibits tau-induced microtubule assembly. Genetic reduction of cofilin mitigates tauopathy and synaptic defects in Tau-P301S mice and movement deficits in tau transgenic C. elegans. The pathogenic effects of cofilin are selectively mediated by activated cofilin, as active but not inactive cofilin selectively interacts with tubulin, destabilizes microtubules, and promotes tauopathy. These results therefore indicate that activated cofilin plays an essential intermediary role in neurotoxic signaling th...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Publication date: Available online 18 May 2019Source: Progress in NeurobiologyAuthor(s): Bianca Cotto, Kalimuthusamy Natarajanseenivasan, Dianne LangfordAbstractThe brain is particularly sensitive to changes in energy supply. Defects in glucose utilization and mitochondrial dysfunction are hallmarks of nearly all neurodegenerative diseases and are also associated with the cognitive decline that occurs as the brain ages. Chronic neuroinflammation driven by glial activation is commonly implicated as a contributing factor to neurodegeneration and cognitive impairment. Human immunodeficiency virus-1 (HIV-1) disrupts normal bra...
Source: Progress in Neurobiology - Category: Neuroscience Source Type: research
BACKGROUND: Maternal exposure to major stressors during pregnancy has been found to increase the risk of neurodevelopmental, cognitive and psychiatric disorders in the offspring. However, the association between prenatal exposure to earthquake and the risk...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Disaster Preparedness Source Type: news
BACKGROUND: Whiplash injuries result from an acceleration-deceleration injury of the cervical spine. The associated symptoms may include neck pain/stiffness; cervicogenic headaches; interscapular pain; upper limb pain, paraesthesia and weakness. Current tr...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
Femoral fractures in pregnancy are a rare complication, with an incidence of approximately 1%. Case reports and small trials leave perioperative obstetric management and route of delivery largely unclear. Three cases of femoral fracture are presented that ...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
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