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paroxysmal disorder

Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi, Alicia Rubio, Antonio Gambardella, Thierry Nieus, Vania Broccoli, Anna Fassio, Pietro Baldelli, Anna Corradi, Federico Zara, Fabio Benfenati
Proline-rich transmembrane protein 2 (PRRT2) is the causative gene for a heterogeneous group of familial paroxysmal neurological disorders that include seizures with onset in the first year of life (benign familial infantile seizures), paroxysmal kinesigenic dyskinesia or a combination of both. Most of the PRRT2 mutations are loss-of-function leading to haploinsufficiency and 80% of the patients carry the same frameshift mutation (c.649dupC; p.Arg217Profs*8), which leads to a premature stop codon. To model the disease and dissect the physiological role of PRRT2, we studied the phenotype of neurons differentiated from induced pluripotent stem cells from previously described heterozygous and homozygous siblings carrying the c...
March 15, 2018: Brain: a Journal of Neurology
J D Santoro, N D Forkert, Q-Z Yang, S Pavitt, S J MacEachern, M E Moseley, K W Yeom
BACKGROUND AND PURPOSE: Tension-type and migraine-type headaches are the most common chronic paroxysmal disorders of childhood. The goal of this study was to compare regional cerebral volumes and diffusion in tension-type and migraine-type headaches against published controls. MATERIALS AND METHODS: Patients evaluated for tension-type or migraine-type headache without aura from May 2014 to July 2016 in a single center were retrospectively reviewed. Thirty-two patients with tension-type headache and 23 with migraine-type headache at an average of 4 months after diagnosis were enrolled...
March 15, 2018: AJNR. American Journal of Neuroradiology
Katharina Feil, Regina Feuerecker, Nicolina Goldschagg, Ralf Strobl, Thomas Brandt, Albrecht von Müller, Eva Grill, Michael Strupp
Background: Making the correct diagnosis of patients presenting with vertigo and dizziness in clinical practice is often challenging. Objective: In this study we examined the performance of the iPad based program me d x in the prediction of different clinical vertigo and dizziness diagnoses and as a diagnostic tool to distinguish between them. Patients and methods: The data collection was done in the outpatient clinic of the German Center of Vertigo and Balance Disorders...
2018: Frontiers in Neurology
David Ulrich Seidel, Jonas Jae-Hyun Park, Andreas M Sesterhenn, Karel Kostev
AIM: The aim of this study was to analyze the prevalence of dizziness- and vertigo-related diagnoses in ear, nose, and throat (ENT) practices in Germany and the associated demographic characteristics based on data from a representative nationwide practice database. METHOD: The study sample included patients from 138 ENT practices in Germany who received dizziness- and vertigorelated diagnoses (ICD-10 code) between January 2012 and December 2015. Collected parameters included age, sex, insurance status, prescribed medication (anatomical therapeutic chemical [ATC] class), and referrals to other specialists and hospitals...
April 2018: Otology & Neurotology
Alexander Röth, Jaroslaw Maciejewski, Jun-Ichi Nishimura, Deepak Jain, Jeffrey I Weitz
OBJECTIVE: Paroxysmal nocturnal hemoglobinuria (PNH) is a severe, life-threatening disorder for which early diagnosis is essential. However, given the rarity of the disease and non-specificity of symptoms, correct diagnosis may be delayed or missed. While various hematologic guidelines note common signs and symptoms associated with PNH, international expert consensus based on real-world clinical experience and an actionable algorithm for non-specialists to facilitate screening and diagnosis are lacking...
March 12, 2018: European Journal of Haematology
Carolina Candeias da Silva, Denis Bernardi Bichuetti, Sonia Maria Cesar de Azevedo Silva, Henrique Ballalai Ferraz, Enedina Maria Lobato de Oliveira, Vanderci Borges
INTRODUCTION: Movement disorders are not rare in demyelinating diseases but there are few studies comparing their frequency between multiple sclerosis and neuromyelitis optica spectrum disorder. Our aim was to determine the frequency and the related features of movement disorders in a cohort of patients with multiple sclerosis and neuromyelitis optica spectrum disorder. METHODS: It is a cross-sectional study of patients with multiple sclerosis and neuromyelitis optica spectrum disorder...
March 3, 2018: Parkinsonism & related Disorders
Xin-Na Ji, Cui-Juan Xu, Zhi-Jie Gao, Shu-Hua Chen, Ke-Ming Xu, Qian Chen
OBJECTIVE: To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders. METHODS: The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. RESULTS: There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation...
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Francesca Re, Ilenia Manfra, Filomena Russo, Caterina Plenteda, Angelica Spolzino, Elena Follini, Maria Gullo, Claudia Romano, Maria Cristina Baroni, Franco Aversa
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening blood disorder characterized by intravascular hemolysis, thrombosis and bone marrow failure. Acute kidney injury, including acute renal failure, have been reported in patients with PNH. We report the case of a 36-year-old male patient with PNH who developed acute kidney injury following an infection of undetermined diagnosis. Although hemolysis was initially controlled and renal function stabilized following packed red blood cell transfusion and empirical levofloxacin and prednisone, he later experienced recurrent episodes of hemolysis and hematuria requiring monthly red blood cell support...
March 2018: Oxford Medical Case Reports
Diana A Olszewska, Terri McVeigh, Emer M Fallon, Gregory M Pastores, Tim Lynch
Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially have an underlying genetic basis, in the presence or absence of a family history...
March 9, 2018: Irish Journal of Medical Science
David W Dodick
Migraine is a chronic paroxysmal neurological disorder characterised by multiphase attacks of head pain and a myriad of neurological symptoms. The underlying genetic and biological underpinnings and neural networks involved are coming sharply into focus. This progress in the fundamental understanding of migraine has led to novel, mechanism-based and disease-specific therapeutics. In this Seminar, the clinical features and neurobiology of migraine are reviewed, evidence to support available treatment options is provided, and emerging drug, device, and biological therapies are discussed...
March 6, 2018: Lancet
Feixia Zheng, Xiuyun Ye, Xulai Shi, Neha Devi Poonit, Zhongdong Lin
The use of botulinum neurotoxin serotype A (BoNT-A) injections for the treatment of orofacial dyskinesia secondary to anti- N -methyl-d-aspartate receptor (NMDAR) encephalitis is rarely reported. Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. The patient presented with de novo unilateral paroxysmal movement disorder progressing to generalized dystonia and repetitive orofacial dyskinesia. Diagnosis was confirmed by the presence of NMDAR antibodies in serum and cerebrospinal fluid...
2018: Frontiers in Neurology
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Giacomo Garone, Claudia Bondone, Antonella Palmieri, Lucia Calistri, Agnese Suppiej, Raffaele Falsaperla, Alessandro Capuano, Valentina Ferro, Antonio Francesco Urbino, Ramona Tallone, Alessandra Montemaggi, Stefano Sartori, Piero Pavone, Margherita Mancardi, Federico Melani, Lucrezia Ilvento, Maria Federica Pelizza, Antonino Reale
INTRODUCTION: Limited data exist on epidemiology, clinical presentation and management of acute hyperkinetic movement disorders (AHMD) in paediatric emergency departments (pED). METHODS: We retrospectively analysed a case series of 256 children (aged 2 months to 17 years) presenting with AHMD to the pEDs of six Italian tertiary care hospitals over a 2-year period (January 2012 to December 2013). RESULTS: The most common type of AHMD was tics (44...
March 8, 2018: Archives of Disease in Childhood
Yuksel Erdal, Ufuk Emre, Arife Cimen Atalar, Taskın Gunes
Background Alien Hand Syndrome (AHS) is an uncontrollable, involuntary, but in appearance, purposeful motor control disorder of the upper extremity. Case report A 42-year-old male patient was admitted to our clinic complaining of involuntary motor activity in his right hand. He had a previous history of migraine with visual aura. The uncontrollable motor control disorder was compatible with Alien Hand Syndrome, which was appearing immediately after the visual aura and before the beginning of headache. Conclusion Alien Hand Syndrome is usually observed with anterior cerebral artery infarction, midline tumors, trauma and several neurodegenerative diseases, but is rarely seen in paroxysmal conditions such as migraine with aura...
January 1, 2018: Cephalalgia: An International Journal of Headache
Qurrat Ul Ain, Huzaifa Saleem, Sarwat Iqbal, Rabia Ghayas
Paroxysmal Nocturnal Haemoglobinuria (PNH) is an acquired, rare life-threatening disorder characterised by compliment mediated hemolytic anemia, thrombosis and impaired bone marrow function. It occasionally presents in childhood or adolescence. This is a case of a 14-year old female presented with complaints of shortness of breath, palpitation and abdominal pain whose laboratory test results were consistent with Coomb's test negative haemolytic anaemia. Contrast enhanced Computed Tomography Scan (CT scan) of abdomen revealed splanchnic circulation thrombosis as well as partially occluding thrombus in the inferior vena cava...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Mohamed Almuqbil, Michael J Rivkin, Masanori Takeoka, Edward Yang, Lance H Rodan
GLUT1 deficiency syndrome (GLUT1DS) is a well described neurometabolic disorder that results from impaired glucose transport into the central nervous system. GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may manifest with paroxysmal non-epileptic phenomena including hemiparesis (Wang et al., 2002). We report for the first time cerebral perfusion changes during an acute episode of hemiparesis in a 9 year old child with GLUT1DS...
February 19, 2018: European Journal of Paediatric Neurology: EJPN
D Bouccara, F Rubin, P Bonfils, Q Lisan
Balance disorders presenting with symptoms of dizziness and vertigo are due to various diseases. Clinical approach gives the opportunity to identify emergency situations and most common causes, among them the first one being the benign paroxysmal positional vertigo. Oculomotor assessment is pertinent as major clinical orientation, particularly between peripheral and central diseases. These clinical findings support the respective indication of modern imaging and/or vestibular tests, focused on the direction of presupposed diagnosis...
February 26, 2018: La Revue de Médecine Interne
O P Shmakova, N A Mazaeva
AIM: To analyze the clinical and social outcomes of organic mental disorders (OMD), diagnosed in children and teens; establish the factors that are relevant for the formation of the clinical picture of OMD in different sexes; the circumstances that determine the dynamics of remote OMD and the level of social adaptation of patients in adulthood. MATERIAL AND METHODS: Four hundred and ninety-eight children with organic mental disorders were followed-up in one of neuropsychiatric outpatient clinics of Moscow, until they reached 23-25 years of age...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
K Rammohan, M M Shyma, Soumitra Das, C Velayudhan Shaji
Background: Epicrania fugax (EF) is a rare newly described primary headache characterized by paroxysms of unilateral pain radiating across one hemicranium. Aim: We aimed to describe 10 new cases of EF and assess the psychiatric comorbidity. Materials and Methods: Cases of EF were identified from patients attending the neurology outpatient department of a tertiary level referral and teaching hospital by the first author during a period extending from January 1, 2015 to April 31, 2017...
January 2018: Journal of Neurosciences in Rural Practice
Yong-Li Jiang, Fang Yuan, Ying Yang, Xiao-Long Sun, Lu Song, Wen Jiang
PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy are thought to have a shared genetic etiology. PRRT2 has been identified as a causative gene of both disorders. In this study, we aim to explore the potential novel causative gene in a PRRT2-negative family with three individuals diagnosed with PKD or genetic epilepsy with febrile seizures plus (GEFS+). METHODS: Clinical data were collected from all the affected and unaffected members of a PKD/GEFS+ family...
February 10, 2018: Seizure: the Journal of the British Epilepsy Association
Joanna M Zakrzewska, Ning Wu, John Y K Lee, Brian Werneburg, Deborah Hoffman, Ying Liu
BACKGROUND AND AIM: Trigeminal neuralgia (TN) is a rare orofacial disorder characterized by severe unilateral paroxysmal pain in the region of the fifth cranial nerve. Clinical guidelines recommend carbamazepine (only US Food and Drug Administration-approved drug for TN) and oxcarbazepine as first-line therapies. We utilized the US Truven Health MarketScan database to examine treatment patterns among patients with TN. METHODS: Included patients were aged ≥18 years, newly diagnosed with TN (≥2 TN diagnoses ≥14 days apart; no diagnosis in the prior year), continuously enrolled 1 year pre-index, with ≥3 years' follow-up post-index...
February 19, 2018: Clinical Journal of Pain
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