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Neurological Sciences

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https://www.readbyqxmd.com/read/30554356/italian-recommendations-for-diagnosis-and-management-of-congenital-myasthenic-syndromes
#1
Lorenzo Maggi, Pia Bernasconi, Adele D'Amico, Raffaella Brugnoni, Chiara Fiorillo, Matteo Garibaldi, Guja Astrea, Claudio Bruno, Filippo Maria Santorelli, Rocco Liguori, Giovanni Antonini, Amelia Evoli, Enrico Bertini, Carmelo Rodolico, Renato Mantegazza
Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Although considered rare, CMS are probably underestimated due to diagnostic difficulties...
December 15, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30554355/heterogeneous-brain-fdg-pet-metabolic-patterns-in-patients-with-c9orf72-mutation
#2
Veronica Castelnovo, Silvia Paola Caminiti, Nilo Riva, Giuseppe Magnani, Vincenzo Silani, Daniela Perani
OBJECTIVE: The hexanucleotide repeat expansion in C9orf72 is an associated genetic cause in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In the "ALS/FTD" spectrum prevails clinical heterogeneity and an in vivo knowledge of the underling brain dysfunction in patients carrying C9orf72 mutation remain limited and only described at group level. The study aimed to assess the brain metabolic alterations characterizing patients with C9orf72 mutation using FDG-PET in single individuals...
December 15, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30554354/crossed-obsessive-compulsive-personality-disorder-and-impaired-theory-of-mind-in-temporal-lobe-epilepsy
#3
Annalisa Parente, Irene Pappalardo, Flavio Villani, Anna Rita Giovagnoli
People with epilepsy often suffer psychiatric symptoms or exhibit maladaptive personality characteristics which can impact them more than seizures. This case illustrates a selective association of a Theory of Mind dysfunction, including an impaired comparison of reality and others' behavior, with an obsessive-compulsive personality disorder in a patient with left temporal lobe epilepsy and crossed cognitive functions. The patient revealed visual memory deficits and impaired interpretation of other people's behavior, mental rigidity, and a tendency to formulate inflexible judgements...
December 15, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30554353/completeness-of-circle-of-willis-and-white-matter-hyperintensities-in-patients-with-severe-internal-carotid-artery-stenosis
#4
Huirong Ye, Xiumei Wu, Jiangzhi Yan, Jian Wang, Jianting Qiu, Yujie Wang
BACKGROUND: We investigated whether completeness of the circle of Willis (CoW) protected patients with severe internal carotid artery (ICA) stenosis against white matter hyperintensities (WMHs). METHODS: We included 115 patients with unilateral ICA stenosis ≥ 70%. The completeness of CoW was assessed and WMHs were rated on a visual scale. The score of deep and periventricular WMHs was compared between patients with complete and incomplete CoW and between the two hemispheres, ipsilateral and contralateral to stenosed ICA...
December 15, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30542963/clinical-and-genetic-characterization-of-an-italian-family-with-slow-channel-syndrome
#5
Corrado Angelini, Ludovico Lispi, Cecilia Salvoro, Maria Luisa Mostacciuolo, Giovanni Vazza
INTRODUCTION: The slow-channel congenital myasthenic syndrome (SCCMS) is a postsynaptic form of congenital myasthenic syndromes (CMSs), a clinically heterogeneous group of disorders caused by genetic defects leading to an abnormal signal transmission at the endplate. METHODS: We report clinical and molecular data of a multigenerational family in which the presentation of a progressive proximal-distal weakness with ocular involvement led to a number of different clinical diagnoses...
December 12, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30539345/red-flags-for-early-referral-of-people-with-symptoms-suggestive-of-narcolepsy-a-report-from-a-national-multidisciplinary-panel
#6
L Vignatelli, E Antelmi, I Ceretelli, M Bellini, C Carta, P Cortelli, L Ferini-Strambi, R Ferri, R Guerrini, F Ingravallo, V Marchiani, F Mari, G Pieroni, F Pizza, M C Verga, E Verrillo, D Taruscio, Giuseppe Plazzi
OBJECTIVE: Narcolepsy is a lifelong disease, manifesting with excessive daytime sleepiness and cataplexy, arising between childhood and young adulthood. The diagnosis is typically made after a long delay that burdens the disease severity. The aim of the project, promoted by the "Associazione Italiana Narcolettici e Ipersonni" is to develop Red Flags to detect symptoms for early referral, targeting non-sleep medicine specialists, general practitioners, and pediatricians. MATERIALS AND METHODS: A multidisciplinary panel, including patients, public institutions, and representatives of national scientific societies of specialties possibly involved in the diagnostic process of suspected narcolepsy, was convened...
December 12, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30539344/evaluation-of-dual-pathology-among-drug-resistant-epileptic-patients-with-hippocampal-sclerosis
#7
Jafar Mehvari Habibabadi, Shervin Badihian, Nasim Tabrizi, Navid Manouchehri, Mohammad Zare, Reza Basiratnia, Majid Barekatain, Houshang Moein, Amirali Mehvari Habibabadi, Payam Moein, Peyman Gookizadeh
PURPOSE: Dual pathology (DP) is defined as simultaneous presence of hippocampal sclerosis (HS) and any other pathology in the brain. Since this is a less probed concept, we aimed to evaluate the frequency and characteristics of DP among drug-resistant epileptic patients with HS. METHODS: This is a cross-sectional study conducted during 2007-2016 in Kashani Comprehensive Epilepsy Center, Isfahan, Iran. Patients with diagnosis of drug-resistant epilepsy and HS were enrolled in the study, and demographic data, seizure semiology, EEG findings, and MRI findings were collected...
December 11, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30535564/the-clinical-and-imaging-features-of-gray-matter-heterotopia-a-clinical-analysis-on-15-patients
#8
Hafiz Khuram Raza, Hao Chen, Thitsavanh Chansysouphanthong, Zuohui Zhang, Fang Hua, Xinchun Ye, Wei Zhang, Liguo Dong, Shenyang Zhang, Xiaopeng Wang, Guiyun Cui
OBJECTIVE: To investigate the clinical and imaging features of gray matter heterotopia (GMH) and improve the clinicians' understanding of the disease. METHODS: A retrospective study was performed on 15 patients with GMH diagnosed at The Affiliated Hospital of Xuzhou Medical University from November 2014 to November 2016. Their clinical and imaging features are also summarized. RESULTS: The proportion of male and female patients was 2:1. The age of onset was 2~45 years and the average age was 19...
December 10, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30535563/efficacy-and-safety-of-autologous-hematopoietic-stem-cell-transplantation-in-multiple-sclerosis-a-systematic-review-and-meta-analysis
#9
Fangfang Ge, Hong Lin, Zhuyi Li, Ting Chang
BACKGROUND: Autologous hematopoietic stem-cell transplantation (AHSCT) has been utilized as a treatment option for multiple sclerosis (MS) since 1995. However, this procedure has not been widely implemented in clinical practice owing to its mortality risk. Here, we conduct a meta-analysis to evaluate the long-term efficacy and safety of AHSCT in MS treatment, aiming to optimize the benefit/risk ratio of this therapeutic strategy. METHODS: We searched the PubMed Web site and clinicaltrials...
December 10, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30535956/regression-based-normative-data-and-equivalent-scores-for-trail-making-test-tmt-an-updated-italian-normative-study
#10
Mattia Siciliano, Carlo Chiorri, Valeria Battini, Valeria Sant'Elia, Manuela Altieri, Luigi Trojano, Gabriella Santangelo
OBJECTIVES: The Trail Making Test (TMT) is widely used to assess psychomotor speed and attentional set-shifting. Since the regression-based norms and equivalent scores (ESs) for the TMT Italian version trace back to more than 20 years ago, we aimed at providing updated normative data for basic (Part A and Part B) and derived (Score B-A and Score B/A) TMT scores collected in a larger sample with an extended age range. METHODS: Three hundred fifty-five Italian volunteers stratified for sex (166 men), age decades (age range 20-90 years), and educational level (from primary school to university) completed the TMT and the Montreal Cognitive Assessment (MoCA)...
December 7, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30535955/status-and-perspectives-of-acute-stroke-care-in-europe
#11
LETTER
Valeria Caso, Diana Aguiar de Sousa, Urs Fischer
No abstract text is available yet for this article.
December 7, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30523549/early-and-late-phase-18-f-fp-cit-pet-images-in-vascular-parkinsonism-due-to-midbrain-infarct
#12
LETTER
Song Hwangbo, Yooha Hong, Sang Won Choi, Joo Yong Kim, You Mie Han, Suk Yun Kang
No abstract text is available yet for this article.
December 7, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30523548/vis-%C3%A3-vis-a-focus-on-genetic-features-of-cerebral-cavernous-malformations-and-brain-arteriovenous-malformations-pathogenesis
#13
Concetta Scimone, Luigi Donato, Silvia Marino, Concetta Alafaci, Rosalia D'Angelo, Antonina Sidoti
Cerebrovascular malformations include a wide range of blood vessel disorders affecting brain vasculature. Neuroimaging differential diagnosis can result unspecific due to similar phenotypes of lesions and their deep localization. Next-generation sequencing (NGS) platforms simultaneously analyze several hundreds of genes and can be applied for molecular distinction of different phenotypes within the same disorder's macro-area. We discuss about the main criticisms regarding molecular bases of cerebral cavernous malformations (CCM) and brain arteriovenous malformations (AVM), highlighting both common pathogenic aspects and genetic differences leading to lesion development...
December 6, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30523547/the-pathological-spectrum-behind-migraine-aura-status-a-case-series
#14
Alberto Terrin, Federico Mainardi, Ferdinando Maggioni
BACKGROUND: The recently released International Classification of Headache Disorders-3rd edition (1) includes migraine aura status (MAS) among the complications of migraine (A1.4.5). It is defined as the recurrence of at least three auras over a period of 3 days, in a patient suffering from migraine fulfilling criteria for 1.2 Migraine with aura (MA) or one of its subtypes. CASE SERIES: We describe three cases of MAS secondary to an organic brain lesion: a migrainous infarction, an acute ischemic stroke secondary to a vertebral artery dissection, and an inflammatory demyelinating disease of the central nervous system...
December 6, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30523546/correction-to-efficacy-of-safinamide-on-non-motor-symptoms-in-a-cohort-of-patients-affected-by-idiopathic-parkinson-s-disease
#15
Maria Laura Ester Bianchi, Giulio Riboldazzi, Marco Mauri, Maurizio Versino
The original version of this article contains an error in Table 2. The Authors realized that they submitted the previous version of Table 2. The correct version of Table 2 is shown here.
December 6, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30519875/bilateral-trigeminal-root-entry-zone-enhancement-in-mog-igg-associated-brainstem-encephalitis
#16
LETTER
Yaoyao Shen, Zhijuan Cheng, Chenguang Zhou
No abstract text is available yet for this article.
December 5, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30515605/an-unusual-case-of-pml-in-hiv-patient-presenting-with-diplopia
#17
LETTER
L Romano, E Capiluppi, A Macerollo, G Cislaghi
No abstract text is available yet for this article.
December 5, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30515604/taste-changes-in-amyotrophic-lateral-sclerosis-and-effects-on-quality-of-life
#18
Claudia Tarlarini, Lucia Catherine Greco, Andrea Lizio, Francesca Gerardi, Valeria Ada Sansone, Christian Lunetta
The primary aim of the study is to evaluate possible taste changes in a cohort of amyotrophic lateral sclerosis patients (pALS) with dysphagia, focusing on eventual psychological and quality of life (QoL) implications. The second aim is to evaluate the changes of QoL following the use of a specific device that provides food flavour. Thirty-two ALS patients were recruited and divided into two groups: subjects feeding only through enteral tube (ET) and subjects still eating by oral way (OW). A specific set of questionnaires was selected and adapted to investigate possible changes of taste and the impact on psychological status and QoL...
December 4, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30511346/migrants-seeking-help-for-cognitive-disturbances-exploratory-data-from-an-italian-memory-clinic
#19
Marco Canevelli, Valerio Zaccaria, Ciro Ruocco, Martina Valletta, Marina Gasparini, Nicola Vanacore, Matteo Cesari, Giuseppe Bruno
INTRODUCTION: The phenomenon of dementia occurring in migrants and minority groups constitutes an emerging issue for Western countries. Nevertheless, it has been poorly explored from the perspective of "real-world" clinical services. We aimed to quantify the number of migrants from LMIC attending an Italian university memory clinic and to document its modifications over time. METHODS: All the subjects undergoing a first neurological and cognitive assessment between 2001 and 2017 were considered for the present analyses...
December 4, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30506413/clinical-significance-of-sensory-hypersensitivities-in-migraine-patients-does-allodynia-have-a-priority-on-it
#20
Jong-Geun Seo, Sung-Pa Park
OBJECTIVES: This study investigated to identify the clinical significance of allodynia compared with other sensory hypersensitivities (SH) in migraine patients. METHODS: New patients with migraine were recruited from a headache clinic, and we collected data regarding their clinical characteristics and identified SH including photophobia, phonophobia, osmophobia, and allodynia. The patients completed the 12-item Allodynia Symptom Checklist, Migraine Disability Assessment Scale (MIDAS), Headache Impact Test-6 (HIT-6), Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder-7 (GAD-7), Insomnia Severity Index (ISI), Fatigue Severity Scale (FSS), and Migraine-Specific Quality of Life Questionnaire Version 2...
December 1, 2018: Neurological Sciences
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