Results 141 to 150 of about 54,210 (294)
Journal of Cutaneous Pathology, EarlyView.ABSTRACT Adult‐onset Still's disease (AOSD) is an auto inflammatory disorder with a variable clinical presentation, and without a pathognomonic diagnostic test, characterized by high spiking fever, arthralgia/arthritis, a suggestive skin rash, elevated white blood cell count 10 G/L (> 80% neutrophils), elevated ferritin, with glycosylated ferritin < 20%
M. Nordmann +7 more
wiley +1 more source
Inborn errors of immunity in children with neuroinflammation
Developmental Medicine &Child Neurology, EarlyView.Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu +5 more
wiley +1 more source
Equine Veterinary Education, EarlyView.Summary An 18‐year‐old Warmblood mare was presented to the Royal Veterinary College Equine Referral Hospital for investigation of progressive periocular and facial swelling, weight loss and tachycardia. Physical examination additionally identified bilateral pansystolic (grade 5/6 basilar left‐sided, 2/6 right‐sided), cardiac murmurs, submandibular ...
S. E. Talbot +4 more
wiley +1 more source
The FEBS Journal, EarlyView.Investigated mutations in transthyretin (TTR) disrupt the F87‐centered hydrophobic core that stabilizes its tetrameric structure. The mild I107V mutation weakens inter‐chain packing, while H88R fully abolishes tetramer formation, yielding a monomeric, aggregation‐prone form. Structural, biophysical, and computational analyses reveal that both mutations
István L. Bódy +7 more
wiley +1 more source
Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community
Haemophilia, EarlyView.ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein +6 more
wiley +1 more source
The Egyptian Heart JournalBackground Myeloproliferative disorders, including monoclonal gammopathy of undetermined significance (MGUS), are often associated with amyloid light-chain (AL)-type cardiac amyloidosis (CA) but occasionally with wild-type transthyretin (ATTR) CA.
Tomoaki Haga +8 more
doaj +1 more source
Journal of Cardiovascular Electrophysiology, EarlyView.This graphical abstract summarizes the study design and main findings in patients with newly diagnosed left ventricular systolic dysfunction and concomitant arrhythmia undergoing early rhythm control under wearable cardioverter‐defibrillator protection.
Joerg Yogarajah +10 more
wiley +1 more source
Journal of Diabetes Investigation, EarlyView.ABSTRACT Background and Aims It is appreciated that current screening tools for diabetic peripheral neuropathy (DPN) often fail to detect early disease. Sudomotor (sweat gland) dysfunction, among the earliest manifestations of DPN, can be measured objectively by the SUDOSCAN® device. We compared SUDOSCAN® with conventional validated screening (Michigan
Rohan Shah +6 more
wiley +1 more source
Holter monitoring in AL amyloidosis: prognostic implications. [PDF]
, 2001 The heart is involved in more than one third of patients with primary (AL) amyloidosis at diagnosis and it is by far the most common cause of death. Rhythm and conduction abnormalities generally represent the terminal event.
A. Pistorio +7 more
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