Search results for "Paroxysmal"
showing 10 items of 64 documents
Suppressive Efficacy by a Commercially Available Blue Lens on PPR in 610 Photosensitive Epilepsy Patients
2006
Purpose Photosensitivity can represent a serious problem in epilepsy patients, also because pharmacologic treatment is often ineffective. Nonpharmacologic treatment using blue sunglasses is effective and safe in controlling photosensitivity, but large series of patients have never been studied. Methods This multicenter study was conducted in 12 epilepsy centers in northern, central, southern, and insular Italy. A commercially available lens, named Z1, obtained in a previous trial, was used to test consecutively enrolled pediatric and adult epilepsy patients with photosensitivity. Only type 4 photosensitivity (photoparoxysmal response, PPR) was considered in the study. A standardized method …
Vertigo in childhood: A methodological approach
2012
Children complaints dizziness merit meticulous evaluation to differentially diagnose a vestibular disease. A syndrome mimicking certain classic signs and symptoms of adult vestibular disorders may be presents in children, such as benign paroxysmal positional vertigo, usually associated with aging. Benign paroxysmal vertigo, in which migraine is a manifestation, with sudden onset of dizziness is a rare peripheral vestibular disorder that is commonly ignored or misdiagnosed. This review covers the development of the diagnosis, evaluation and treatment approaches of vertigo of childhood, a valid support for physician that approach dizzy children (Ref. 25). Full Text in PDF www.elis.sk.
Assisting Electrophysiological Substrate Quantification in Atrial Fibrillation Ablation
2019
[EN] Catheter ablation (CA) is the most popular treatment of atrial fibrillation (AF) with good results in paroxysmal AF, while its efficiency is significantly reduced in persistent AF. With the equipment used for CA strongly depending on electro-gram (EGM) fractionation quantification, the use of a reliable fractionation estimator is crucial to reduce the high recurrence rates in persistent AF. This work introduces a non-linear EGM fractionation quantification technique, which is based on coarse-grained correlation dimension (CGCD) computed over epochs of 1 second. Recordings were firstly normalized, denoised and lowpass filtered. The final CGCD value was calculated by the median CGCD valu…
Peripheral circulating cells with paroxysmal nocturnal haemoglobinuria phenotype after a first episode of cerebral sinus vein thrombosis: Results fro…
2019
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, potentially fatal disorder of haematopoietic stem cells caused by mutations in an X-linked gene called phosphatidylinositol glycan class A, characterised by intravascular haemolysis, bone marrow failure and thrombotic events. The disease can occur at any age, although preferentially it affects young adults; its estimated prevalence is about 1/500,000 [1]. Clinical symptoms are variable and can include haemolytic anaemia, moderate to severe impairment of haematopoiesis and, in approximately 40% of patients, thrombosis of the vessels of the abdomen, brain and skin [2]. Rare, atypical site thrombosis of the splanchnic veins or cerebral sinu…
Vertigo and osteoporosis: The correlation between nutritional intake of Vitamin D and incidence of recurring benign paroxysmal positional vertigo in …
2018
Introduction: Benign paroxysmal positional vertigo (BPPV) is the most common peripheral cause of vertigo. It can be defined as transient vertigo induced by rapid changes in head position associated with a characteristic paroxysmal positional nystagmus. The aim of this study is to evaluate the association between the serum calcium and Vitamin D levels in osteoporotic patients affected by recurrent BPPV. Materials and Methods: Calcium and 25-hydroxy-Vitamin D levels were evaluated in peripheral venous serum samples of 40 BPPV patients. Results: The reduction of serum Vitamin D levels is present in 16 of BPPV patients with recurrence. After nutritional intake of Vitamin D there was a decline o…
Corrigendum to “A multicenter observational study on the role of comorbidities in the recurrent episodes of benign paroxysmal positional vertigo” [Au…
2014
Alessandro De Stefano *, Francesco Dispenza , Hamlet Suarez , Nicolas Perez-Fernandez , Raquel Manrique-Huarte , Jae Ho Ban , Min-Beom Kim , Michael Strupp , Katharina Feil , Carlos A. Oliveira , Andres L. Sampaio , Mercedes F.S. Araujo , Fayez Bahmad Jr., Mauricio M. Gananca , Fernando F. Gananca , Ricardo Dorigueto , Hyung Lee , Gautham Kulamarva , Navneet Mathur , Pamela Di Giovanni , Anna Grazia Petrucci , Tommaso Staniscia , Leonardo Citraro , Adelchi Croce a
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurologi…
2019
Abstract KCNMA1 encodes the large-conductance Ca2+- and voltage-activated K+ (BK) potassium channel α-subunit, and pathogenic gain-of-function variants in this gene have been associated with a dominant form of generalized epilepsy and paroxysmal dyskinesia. Here, we genetically and functionally characterize eight novel loss-of-function (LoF) variants of KCNMA1. Genome or exome sequencing and the participation in the international Matchmaker Exchange effort allowed for the identification of novel KCNMA1 variants. Patch clamping was used to assess functionality of mutant BK channels. The KCNMA1 variants p.(Ser351Tyr), p.(Gly356Arg), p.(Gly375Arg), p.(Asn449fs) and p.(Ile663Val) abolished the …
Canal switch and re-entry phenomenon in benign paroxysmal positional vertigo: difference between immediate and delayed occurrence
2014
Studio prospettico ideato per la valutazione delle differenze tra la conversione canalare o il rientro degli otoliti nei canali semicircolari successivo alle manovre terapeutiche nei pazienti affetti da VPPB. Sono stati valutati 196 pazienti affetti da VPPB, 127 dei quali corrispondevano ai criteri di inclusione. L’età media dei pazienti era di 54.74 anni. Il canale orizzontale è stato coinvolto in 30 casi e il canale posteriore in 97 pazienti. I pazienti con sordità neurosensoriale presentavano forme ricorrenti di VPPB, rispetto a quelli con udito normale. L’immediato rientro canalare è stato diagnosticato in 3 pazienti con VPPB del canale laterale, tutti con nistagmo geotropo. 7 pazienti …
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutat…
2008
Monocarboxylate transporter 8 (MCT8 or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular hypertonia at his current age of 9 years. Additionally, the patient has a lesion in the left putamen region revealed by magnetic resonance imaging and elevated serum T3 levels. The male appeared to have a hemizygous mutation (R271H)…