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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In this study, non-essential toxic metals in the coastal of Tyrrhenian Sea were monitored, during the 2017–2018 period, using the Mediterranean loggerhead sea turtle (Caretta caretta) as indicator species. The levels of Cadmium (Cd), Arsenic (As), Mercury (Hg) and Lead, (Pb) were determined in 30 turtles stranded in different locations along the coasts of Campania region of Southern Italy. After morphometric analysis, the non- essential toxic metal accumulation in loggerhead sea turtle muscle and organs have been measured analysing the total concentrations of metals in samples of liver, kidney, and muscle by Atomic A...
Source: Comparative Biochemistry and Physiology Part C: Toxicology and Pharmacology - Category: Toxicology Source Type: research
Publication date: Available online 17 February 2020Source: Clinical Epidemiology and Global HealthAuthor(s): Hombaiah Chandana, B. Madhu, M.R. Narayana MurthyAbstractIntroductionGlobally, cervical cancer is the 4th most common cancer and is one of the leading cancers causing death in India. Cervical cancer is one of those cancers which can be easily prevented by screening women who are aged above 30 years and by vaccinating young girls against HPV. Lack of awareness about cervical cancer makes early detection and timely screening difficult. Awareness about cervical cancer among people will help us to decide on an appropria...
Source: Clinical Epidemiology and Global Health - Category: Epidemiology Source Type: research
ConclusionsTAPQOL is markedly responsive to detect change in children with CP. The caregivers perceived the minimally important change in HRQOL of their children at a relatively low treatment efficacy. Researchers and clinicians can utilize TAPQOL data to determine whether changes in TAPQOL scores indicate clinically meaningful effects post-treatment and at the follow-up.
Source: Quality of Life Research - Category: Health Management Source Type: research
Publication date: Available online 17 February 2020Source: The Egyptian RheumatologistAuthor(s): Rehab A. Sallam, Amany S. ElbahnasawyAbstractAim of the workTo assess health-related quality of life (HRQoL) and associated variables in Egyptian ankylosing spondylitis (AS) patients.Patients and methods50 male patients with AS and 50 age-matched controls were enrolled. Clinical and laboratory data were examined including history for peripheral arthritis. Visual analog scale (VAS), Bath AS disease activity index (BASDAI), AS disease activity score (ASDAS)-C-reactive protein (CRP) and ASDAS-erythrocyte sedimentation rate (ESR), ...
Source: The Egyptian Rheumatologist - Category: Rheumatology Source Type: research
AbstractBakker et al found a change in the magnetic resonance imaging (MRI) findings in 29 of 188 patients, when the examination was repeated at three months and at one year (1). The patients were all being investigated on account of back pain, with presumably varying degrees of concern about the possibility of inflammatory spondyloarthritis.Twelve (6.8%) patients were negative at the initial examination but became positive on subsequent testing. A percentage that was lower, but not dissimilar to Van Onna et al's report of 15% at two years (2).
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: LETTER TO THE EDITOR Source Type: research
Publication date: Available online 17 February 2020Source: NeuroImage: ClinicalAuthor(s): Stefan Frässle, Andre F. Marquand, Lianne Schmaal, Richard Dinga, Dick J. Veltman, Nic J.A. van der Wee, Marie-José van Tol, Dario Schöbi, Brenda W.J.H. Penninx, Klaas E. StephanABSTRACTPatients with major depressive disorder (MDD) show heterogeneous treatment response and highly variable clinical trajectories: while some patients experience swift recovery, others show relapsing-remitting or chronic courses. Predicting individual clinical trajectories at an early stage is a key challenge for psychiatry and might facil...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
The ancient Roman city ’s House of the Lovers has reopened to the public 40 years after it was severely damaged in 1980 by an earthquakePompeii ’s House of Lovers reopens to publicContinue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Archaeology Italy News photography World news Culture Source Type: news
Less than one year after Ipsen SA made its largest-ever acquisition, the company has written down most of the deal ’s value as a loss.  Ipsen spent $1 billion last year to acquire Canadian startup Clementia Pharmaceuticals Inc. and its leading rare disease drug candidate. But the drug giant, which is based in France and has its U.S. headquarters in Cambridge, recorded a $725 million impairment loss on the de al in its year-end financial report, resulting in a $54 million net loss for Ipsen.  The…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
ConclusionAseptic meningitis may be an atypical phenotype of NMOSD flare that is easily confused with specific infection. Comprehensive evaluation to exclude an infective etiology and enable accurate diagnosis and timely immunotherapy are critical to prognosis.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
In this study, we evaluated the safety, tolerability, and immunogenicity of shorter, simpler regimens of trivalent Ad26.Mos.HIV expressing mosaic HIV-1 Env/Gag/Pol antigens combined with aluminium phosphate-adjuvanted clade C gp140 protein.MethodsWe did this randomised, double-blind, placebo-controlled phase 1 trial (IPCAVD010/HPX1002) at Beth Israel Deaconess Medical Center in Boston, MA, USA. We included healthy, HIV-uninfected participants (aged 18–50 years) who were considered at low risk for HIV infection and had not received any vaccines in the 14 days before study commencement. We randomly assigned participant...
Source: The Lancet HIV - Category: Infectious Diseases Source Type: research
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