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https://www.readbyqxmd.com/read/28643814/-unresponsive-wakefulness-syndrome-clinical-predictors-of-late-recovery
#1
Gianfranco Lamberti, Elena Antoniono, Francesca Gozzerino, Donatella Giraudo
Patients affected by the outcomes of serious traumatic and/or non-traumatic brain injury may show progressive recovery characterized by a broad spectrum of clinical conditions, which are often not completely different, but of differing seriousness. The unresponsive wakefulness syndrome (UWS) and minimally conscious state (MCS) are syndromes that may characterize progression from the coma state and may be temporary clinical conditions, or in some cases, the final outcome of acute brain injury. The eventual recovery of consciousness is a dynamic process, in constant progress following the acute event...
May 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/28631688/-benign-paroxysmal-positional-vertigo-modern-concepts-of-its-etiology-and-pathogenesis
#2
N L Kunel'skaya, N G Mokrysheva, A L Guseva, E V Baibakova, E A Manaenkova
The objective of the present review of the literature is the analysis of the currently available data concerning etiology and pathogenesis of benign paroxysmal positional vertigo (BPPV). The special emphasis is placed on the modern hypotheses of BPPV formation that collectively account for not more than 15% of all known cases of this condition. The best explored are the following causes of benign paroxysmal positional vertigo: vestibular neuronitis, head injuries, and disorders in the middle ear. During the recent years, much attention has been given to the role of disturbances of calcium metabolism and osteoporosis in etiology of benign paroxysmal positional vertigo...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28630090/t-cell-transcriptomes-from-paroxysmal-nocturnal-hemoglobinuria-patients-reveal-novel-signaling-pathways
#3
Kohei Hosokawa, Sachiko Kajigaya, Keyvan Keyvanfar, Wangmin Qiao, Yanling Xie, Danielle M Townsley, Xingmin Feng, Neal S Young
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder originating from hematopoietic stem cells and is a life-threating disease characterized by intravascular hemolysis, bone marrow (BM) failure, and venous thrombosis. The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene (PIG-A) on the X chromosome, which blocks synthesis of the glycolipid moiety and causes deficiency in GPI-anchored proteins. PNH is closely related to aplastic anemia, in which T cells mediate destruction of BM...
June 19, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28622122/exploding-head-syndrome-in-the-epilepsy-monitoring-unit-case-report-and-literature-review
#4
Kara Gillis, Marcus C Ng
Diagnosis of paroxysmal events in epilepsy patients is often made through video-telemetry electroencephalography in the epilepsy monitoring unit. This case report describes the first-ever diagnosis of exploding head syndrome in a patient with longstanding epilepsy and novel nocturnal events. In this report, we describe the presentation of exploding head syndrome and its prevalence and risk factors. In addition, the prevalence of newly diagnosed sleep disorders through video-telemetry electroencephalography in the epilepsy monitoring unit is briefly reviewed...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28621538/discovery-of-highly-potent-and-selective-small-molecule-reversible-factor-d-inhibitors-demonstrating-alternative-complement-pathway-inhibition-in-vivo
#5
Edwige Lorthiois, Karen Anderson, Anna Vulpetti, Olivier Rogel, Frederic Cumin, Nils Ostermann, Stefan Steinbacher, Aengus Mac Sweeney, Omar Delgado, Sha-Mei Liao, Stefan Randl, Simon Rüdisser, Solene Dussauge, Kamal Fettis, Laurence Kieffer, Andrea de Ekernez, Louis Yang, Constanze Hartwieg, Upendra A Argikar, Laura R LaBonte, Ronald Newton, Viral Kansara, Stefanie Flohr, Ulrich Hommel, Bruce Jaffee, Jürgen Maibaum
The highly specific S1 serine protease Factor D (FD) plays a central role in the amplification of the complement alternative pathway (AP) of the innate immune system. Genetic associations in humans have implicated AP activation in age-related macular degeneration (AMD), and AP dysfunction predisposes individuals to disorders such as paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). The combination of structure-based hit identification and subsequent optimization of the center (S)-proline-based lead 7 has led to the discovery of non-covalent reversible and selective human Factor D (FD) inhibitors with drug-like properties...
June 16, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28603599/residual-dizziness-after-successful-repositioning-maneuver-for-idiopathic-benign-paroxysmal-positional-vertigo-a-review
#6
REVIEW
Giorgia Giommetti, Ruggero Lapenna, Roberto Panichi, Puya Dehgani Mobaraki, Fabrizio Longari, Giampietro Ricci, Mario Faralli
The benign paroxysmal positional vertigo (BPPV) is a vestibular disorder cause of vertigo. The BPPV may be corrected mechanically by repositioning maneuvers but even after successful maneuvers, some patients report residual dizziness for a certain period afterward. Early recognition and treatment might decrease the incidence of residual dizziness in patients with BPPV, especially in those patients with psychiatric comorbidities and in the elderly, lowering the risk of falling. Many pathogenetic hypotheses for residual dizziness are under debate...
February 1, 2017: Audiology Research
https://www.readbyqxmd.com/read/28602958/allogeneic-hematopoietic-cell-transplantation-using-treosulfan-based-conditioning-for-treatment-of-marrow-failure-disorders
#7
Lauri M Burroughs, Akiko Shimamura, Julie-An Talano, Jennifer Domm, Kelsey Baker, Colleen Delaney, Haydar Frangoul, David Margolis, K Scott Baker, Amy Geddis, Brenda M Sandmaier, H Joachim Deeg, Rainer Storb, Ann E Woolfrey
Hematopoietic cell transplantation (HCT) is effective in the treatment of inherited marrow failure disorders and other non-malignant diseases. Conventional myeloablative conditioning regimens have been associated with high transplant related mortality particularly in patients with co-morbid conditions. Here we report on 14 patients with marrow failure disorders (Shwachman-Diamond syndrome n=3, Diamond Blackfan anemia n=4, GATA2 deficiency n=2, paroxysmal nocturnal hemoglobinuria n=4, and an undefined marrow failure disorder n=1) who underwent HCT on a prospective phase II multi-center clinical trial...
June 7, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28578122/hemimasticatory-spasm-with-a-single-venous-compression-treated-with-microvascular-decompression-of-the-trigeminal-motor-rootlet
#8
Ke-Kun Yan, Jian-Bo Wei, Wen Lin, Yue-Hui Zhang, Ming Zhang, Mi Li
Hemimasticatory spasm is a very rare disorder of the trigeminal motor rootlet that is characterized by a paroxysmal involuntary contraction of the jaw-closing muscles. The mechanisms for hemimasticatory spasm remain unclear, and an efficient treatment strategy still needs to be developed. We report a case of a successful treatment of hemimasticatory spasm with single venous compression via microvascular decompression of the trigeminal motor rootlet.
May 31, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28574201/standardized-high-sensitivity-flow-cytometry-testing-for-paroxysmal-nocturnal-hemoglobinuria-in-children-with-acquired-bone-marrow-failure-disorders-a-single-center-u-s-study
#9
Rachel E Donohue, Andrea N Marcogliese, Ghadir S Sasa, M Tarek Elghetany, Alka A Redkar, Alison A Bertuch, Choladda V Curry
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder that has not been well documented in children, particularly those with acquired bone marrow failure disorders (ABMFD) - acquired aplastic anemia (AAA) and myelodysplastic syndrome (MDS). Therefore, we sought to determine the prevalence of PNH populations in children with ABMFD. METHODS: PNH testing was performed in children with an ABMFD diagnosis using high sensitivity (≥0...
June 2, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28564577/gene-therapy-and-editing-novel-potential-treatments-for-neuronal-channelopathies
#10
REVIEW
R C Wykes, G Lignani
Pharmaceutical treatment can be inadequate, non-effective, or intolerable for many people suffering from a neuronal channelopathy. Development of novel treatment options, particularly those with the potential to be curative is warranted. Gene therapy approaches can permit cell-specific modification of neuronal and circuit excitability and have been investigated experimentally as a therapy for numerous neurological disorders, with clinical trials for several neurodegenerative diseases ongoing. Channelopathies can arise from a wide array of gene mutations; however they usually result in periods of aberrant network excitability...
May 28, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28549682/epidemiology-of-vestibular-disorders-in-the-otoneurology-unit
#11
Gloria Guerra-Jiménez, Alejandra Arenas Rodríguez, Juan Carlos Falcón González, Daniel Pérez Plasencia, Ángel Ramos Macías
INTRODUCTION AND OBJECTIVES: The set of symptoms relating to disorders of the balance system are common in the general population. However, there are few studies quantifying the frequency of onset of the various vestibular disorders that present in specialist otoneurology units in the Spanish population. The aim of this study is to establish the epidemiology of vestibular disorders, their form of presentation, and the expected care burden in a specialist otoneurology clinic. MATERIAL AND METHODS: A retrospective, descriptive, observational study of patients referred to the otoneurology unit of a third level hospital between 1/1/2015 and 31/12/2015...
May 23, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/28534686/hashimoto-s-thyroiditis-and-vestibular-dysfunction
#12
Giuseppe Chiarella, Diego Russo, Fabio Monzani, Claudio Petrolo, Bruno Fattori, Giuseppe Pasqualetti, Ettore Cassandro, Giuseppe Costante
The aim of this review was to analyze the existing literature concerning the relationship between Hashimoto's thyroiditis (HT) and vestibular dysfunction. METHODS: We used electronic databases (PubMed, EMBASE, Cochrane Library) to search and collect all published articles about association between HT and vestibular disorders. RESULTS: Several observational and retrospective studies have postulated a relationship of thyroid autoimmunity and vestibular disorders. In most cases, an appropriate control group was lacking and the impact of thyroid functional status could not precisely be established...
May 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28530638/sodium-channel-nav1-9-mutations-associated-with-insensitivity-to-pain-dampen-neuronal-excitability
#13
Jianying Huang, Carlos G Vanoye, Alison Cutts, Y Paul Goldberg, Sulayman D Dib-Hajj, Charles J Cohen, Stephen G Waxman, Alfred L George
Voltage-gated sodium channel (NaV) mutations cause genetic pain disorders that range from severe paroxysmal pain to a congenital inability to sense pain. Previous studies on NaV1.7 and NaV1.8 established clear relationships between perturbations in channel function and divergent clinical phenotypes. By contrast, studies of NaV1.9 mutations have not revealed a clear relationship of channel dysfunction with the associated and contrasting clinical phenotypes. Here, we have elucidated the functional consequences of a NaV1...
May 22, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28525812/clinical-characteristics-and-prrt2-gene-mutation-analysis-of-sporadic-patients-with-paroxysmal-kinesigenic-dyskinesia-in-china
#14
Yu Zhang, Lin Li, Wei Chen, Jing Gan, Zhen Guo Liu
OBJECTIVE: As a rare type of movement disorder, paroxysmal kinesigenic dyskinesia mainly affects children and is associated with PRRT2 gene mutation. The objective of our study is to identify whether the sporadic patients share the same genotype-phenotype correlations as familial patients in China. PATIENTS AND METHODS: We investigated the clinical characteristics and PRRT2 gene mutations of 15 sporadic patients with paroxysmal kinesigenic dyskinesia in china. The clinical and investigational data of our patients was recorded and analyzed meticulously...
May 8, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28523890/handy-hints-about-raynaud-s-phenomenon-in-children-a-critical-review
#15
REVIEW
Donato Rigante, Michele Fastiggi, Francesco Ricci, Francesca D'Errico, Benedetta Bracci, Cristina Guerriero
Raynaud's phenomenon (RP) is a vasospastic disorder characterized by recurrent self-limited episodes of skin pallor, cyanosis, and hyperemia caused by paroxysmal spasms in the small arteries of the fingers and toes and can occur in any age group. Hands, feet, nose, ears, and nipples can be affected. The diagnosis is made clinically, assessing varying degrees of ischemia in the involved areas of skin, but this transient ischemia may also herald the onset of connective tissue disease. Investigation is recommended when RP starts in childhood to exclude an underlying autoimmune condition and close follow-up for its development...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28514332/-clinical-significance-of-nausea-in-migraine
#16
O V Serousova, M I Karpova, A I Dolgushina, A F Vasilenko, V V Markova, D S Altman
AIM: To study the prevalence and intensity of nausea in pain, prodromal and postdromal phases of migraine paroxysm, and in between the paroxysms in migraine patients, depending on the type of migraine paroxysm and frequency of pain days, and to evaluate an effect of nausea on the course of migraine. MATERIAL AND METHODS: One hundred and four patients with migraine, aged from 18 to 60 years, were examined. The intensity of nausea was evaluated by a 5-point verbal analogue scale, and its intensity in between the paroxysms by the Gastrointestinal Symptom Rating Scale...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28496928/idiopathic-paroxysmal-atrio-ventricular-block-what-is-the-mechanism
#17
REVIEW
Francisco J Guerrero-Márquez, Eduardo Arana-Rueda, Alonso Pedrote
Idiopathic paroxysmal atrioventricular (AV) block poses a true diagnostic challenge. What is clear about this entity is the confusion about its definition and consequently about its etiology. According to certain sources, the diagnosis of this block requires the lack of a structural cardiac pathology that justifies the observed manifestations and an absence of electrocardiographic disorders prior to an episode. The clinical presentation of idiopathic paroxysmal AV block does not differ from that of another cardiogenic syncope or of a vasovagal syncope with a significant cardioinhibitory component...
October 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/28485653/vestibular-rehabilitation-in-benign-paroxysmal-positional-vertigo-reality-or-fiction
#18
Federica Bressi, Paola Vella, Manuele Casale, Antonio Moffa, Lorenzo Sabatino, Michele Antonio Lopez, Francesco Carinci, Rocco Papalia, Fabrizio Salvinelli, Silvia Sterzi
The objective of this article is to systematically review the evidence on the effectiveness of vestibular rehabilitation (VR) in patients with benign paroxysmal positional vertigo (BPPV). Relevant published studies about VR in BPPV were searched in PubMed, Google Scholar and Ovid using various keywords. We included trials that were available in the English language and did not apply publication year or publication status restrictions. Studies based on the VR in other peripheral and/or central balance disorders are excluded...
May 1, 2017: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/28484820/-vertigo-and-dizziness-in-the-emergency-room
#19
REVIEW
A Zwergal, K Möhwald, M Dieterich
Vertigo and dizziness are among the most common chief complaints in the emergency department. Etiologies can be categorized into three subgroups: neurootological (vestibular), medical (especially cardiovascular, metabolic), and psychiatric disorders. The diagnostic approach in the emergency department is based on a systematic analysis of case history (type, time course of symptoms, modulating factors, associated symptoms), clinical examination of the vestibular, ocular motor, and cerebellar systems (head impulse test, nystagmus, skew deviation, positioning maneuver, test of gait and stance), as well as a basal monitoring (vital signs, 12-lead ECG, blood tests)...
June 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28484353/tachycardia-as-a-negative-prognostic-factor-for-stroke-outcome
#20
Amina Nakicevic, Salem Alajbegovic, Lejla Alajbegovic
INTRODUCTION: The outcome of stroke, especially lethal one is significant, as in the hemorrhagic as well as in ischemic stroke. GOAL: was to show the impact on the stroke outcome of tachycardia correlated with lesion localization. MATERIAL AND METHODS: Material for our work was patients who were treated due to the stroke at the Neurology Clinic Sarajevo in the period from 31 March 2015 until 01 January 2016. A total of 544 stoke patients were treated in the reporting period, 221 (44...
March 2017: Materia Socio-medica
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