Search results for "Paroxysm"
showing 10 items of 69 documents
Understanding the SO 2 degassing budget of Mt Etna’s paroxysms: First clues from the december 2015 sequence
2019
The persistent open-vent activity of basaltic volcanoes is periodically interrupted by spectacular but hazardous paroxysmal explosions. The rapid transition from quiescence to explosive eruption poses a significant challenge for volcanic hazard assessment and mitigation, and improving our understanding of the processes that trigger these paroxysmal events is critical. Although magmatic gas is unquestionably the driver, direct measurements of a paroxysm’s gas flux budget have remained challenging, to date. A particularly violent paroxysmal sequence took place on Etna on December 2015, intermittently involving all summit craters, especially the Voragine (VOR) that had previously displayed no…
Shallow system rejuvenation and magma discharge trends at Piton de la Fournaise volcano (La Réunion Island)
2017
International audience; Basaltic magma chambers are often characterized by emptying and refilling cycles that influence their evolution in space and time, and the associated eruptive activity. During April 2007, the largest historical eruption of Piton de la Fournaise (Île de La Réunion, France) drained the shallow plumbing system (>240×106 m3>240×106 m3) and resulted in collapse of the 1-km-wide summit crater. Following these major events, Piton de la Fournaise entered a seven-year long period of near-continuous deflation interrupted, in June 2014, by a new phase of significant inflation. By integrating multiple datasets (lava discharge rates, deformation, seismicity, gas flux, gas composi…
Paroxysmal nocturnal haemoglobinuria: When delay in diagnosis and long therapy occurs
2017
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disorder characterized by hemolytic anemia, bone marrow failure and thrombosis, caused by a somaticmutation in PIG-A gene that results in theabsence of CD55 and CD59, two important complement regulatory proteins. In thispaper, a case of PNH is retrospectively examined looking for clinical and laboratory features, and the entire course of the disease from the onset of the symptoms isdescribed, together with an adequate follow-up over a 7-years treatment period. Inthis case, the not specificity and the limited clinical relevance of the symptoms led to adelay in diagnosis. After thrombosis, Eculizumab therapy has been shown to be effec…
Benign nocturnal alternating hemiplegia of childhood
2018
Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
2019
Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous functio…
PRRT2 mutations are the major cause of benign familial infantile seizures.
2012
Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large fami…
Biologic relevance of elevated red cell adenosine deaminase activity in myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria.
1992
Red cell adenosine deaminase (ADA-RBC) activity in patients with myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria is significantly increased compared to that observed in normal controls. ADA-RBC activity is not related to fetal hemoglobin concentration, but it is significantly correlated with hemoglobin concentration at diagnosis and with the degree of morphologic dysplasia in the erythroid lineage. The results of our study suggest that the observed enzymatic abnormality may constitute a non-specific manifestation of the stem cell alteration that determines these disorders.
Intermediate nerve schwannoma: A rare tumour
2011
The intermediate nerve (IN), also called the nerve of Wrisberg, is a relatively small nerve with a variable anatomical course. Currently, this nerve is not addressed well in the pertinent literature. Pre-operative diagnosis of IN tumours is clinically challenging due to the lack of related symptoms. Symptoms are typically caused by the functional deterioration of neighbouring anatomical structures. In this report, we describe a patient with a schwannoma that arose at the porus acusticus of the internal auditory canal; during surgery, this proved to originate from the IN. We discuss our findings in the context of previously reported cases of IN schwannomas and analyse the vague characteristi…
Benign paroxysmal positional vertigo following whiplash injury: a myth or a reality?
2011
Abstract Objective The aim of the study was to evaluate the true incidence, diagnosis, and treatment of benign paroxysmal positional vertigo (BPPV) arising after whiplash injury and to distinguish this type of posttraumatic vertigo from other types of dizziness complained after trauma. Methods This was a retrospective study comprising patients referred to our center after whiplash injury. The patients were evaluated with neurotologic examination including bedside and instrumental tests. A Dizziness Handicap Inventory evaluating the symptoms of patients was submitted before and after treatment and was evaluated. The BPPV patients were separately evaluated from those with cervicogenic vertigo…
Are postural restrictions necessary for management of posterior canal benign paroxysmal positional vertigo?
2011
Objectives: An important component of management of benign paroxysmal positional vertigo (BPPV) has been the application of postural restrictions after use of a canalith repositioning maneuver (CRM) to prevent the return of otolithic debris into the posterior semicircular canal (PSC). This study was designed to explore the effectiveness of postural restrictions in patients with BPPV caused by otolithic debris in the PSC. Methods: Seventy-four adult patients with unilateral PSC BPPV were enrolled into this study. All patients were managed with a CRM — Either the modified Epley maneuver or the Semont maneuver. The patients were divided randomly into 2 groups: Group A, with postural restrictio…