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https://www.readbyqxmd.com/read/28644259/antiphospholipid-syndrome-with-a-distinctive-constellation-of-neurological-manifestations-blue-toes-red-valves-white-retinal-spots
#1
Brandon T Nokes, Oana M Dumitrascu, Fadi E Shamoun, Cumara B OʼCarroll
Antiphospholipid syndrome (APS) encompasses a hypercoagulable state with a markedly increased risk for cerebrovascular complications. In addition to the classic stroke features of APS, however, there are numerous recently described "non-criteria" neurological conditions such as headaches, seizures, and cognitive impairment. We present a case of APS with uncommon neurological manifestations.
July 2017: Neurologist
https://www.readbyqxmd.com/read/28644254/sporadic-creutzfeldt-jakob-disease-with-unilateral-symptoms-in-the-setting-of-metastatic-renal-cell-carcinoma
#2
Kyle C Rossi, Christine M Stahl, Pengfei Zhang, John W Liang, Lara V Marcuse, Fred Lublin
INTRODUCTION: Although it is not rare for magnetic resonance imaging findings in Creutzfeldt-Jakob disease to be asymmetric, unilateral clinical syndromes are uncommonly reported and may confound diagnosis. In addition, neurological paraneoplastic syndromes are not common in renal cell carcinoma, though there are cases reported, often without an offending antibody isolated. CASE REPORT: A 66-year-old man was admitted with 1 month of left-sided numbness and "loss of control" of the left arm...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28644253/spectrum-of-autonomic-nervous-system-impairment-in-sj%C3%A3-gren-syndrome
#3
Brent P Goodman, Amy Crepeau, Priya S Dhawan, Julie A Khoury, Lucinda A Harris
OBJECTIVE: To describe the spectrum of autonomic dysfunction in a uniformly evaluated cohort of patients with Sjögren syndrome. METHODS: A series of 13 patients underwent a comprehensive evaluation for suspected autonomic impairment, including a neurological examination, autonomic testing, and laboratory studies. A diagnosis of Sjögren syndrome was established as the cause of autonomic dysfunction in all. Clinical features, findings on autonomic testing, and laboratory results are described...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28644112/susac-syndrome-misdiagnosed-as-multiple-sclerosis-with-exacerbation-by-interferon-beta-therapy
#4
Hussein Algahtani, Bader Shirah, Muhammad Amin, Eyad Altarazi, Hashem Almarzouki
Susac syndrome is a rare autoimmune disorder characterised by the clinical triad of encephalopathy, retinopathy (branch retinal artery occlusions) and hearing loss. The diagnosis of Susac syndrome may be difficult initially, and it is not uncommon for patients with Susac syndrome to be misdiagnosed with multiple sclerosis. In this case report, we describe a patient who was diagnosed as having multiple sclerosis for three years, with further deterioration after starting treatment with interferon beta-1a. The patient had the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28643814/-unresponsive-wakefulness-syndrome-clinical-predictors-of-late-recovery
#5
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/28643603/stroke-like-migraine-attacks-after-radiation-therapy-syndrome-case-report-and-review-of-the-literature
#6
Achint K Singh, Bundhit Tantiwongkosi, Anna-Marieta Moise, Wilson B Altmeyer
A 26-year-old female presented with vision loss accompanied by migraine-like headaches. A contrast-enhanced magnetic resonance imaging of the brain was performed which revealed findings suggestive of stroke-like migraine attacks after radiation therapy (SMART) syndrome. SMART syndrome is a delayed complication of brain radiation characterized by neurologic symptoms including migraine-like headaches, seizures, and hemispheric impairment. The purpose of this article is to make the readers aware of this rare complication of brain irradiation...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28643167/microbiome-probiotics-and-neurodegenerative-diseases-deciphering-the-gut-brain-axis
#7
REVIEW
Susan Westfall, Nikita Lomis, Imen Kahouli, Si Yuan Dia, Surya Pratap Singh, Satya Prakash
The gut microbiota is essential to health and has recently become a target for live bacterial cell biotherapies for various chronic diseases including metabolic syndrome, diabetes, obesity and neurodegenerative disease. Probiotic biotherapies are known to create a healthy gut environment by balancing bacterial populations and promoting their favorable metabolic action. The microbiota and its respective metabolites communicate to the host through a series of biochemical and functional links thereby affecting host homeostasis and health...
June 22, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28642851/sarcopenia-neurological-point-of-view
#8
REVIEW
Young Nam Kwon, Sung Sang Yoon
Sarcopenia is an age-related geriatric syndrome which is characterized by the gradual loss of muscle mass, muscle strength, and muscle quality. There are a lot of neurologic insults on sarcopenia at various levels from the brain to the neuromuscular junctions (NMJs) to generate a volitional task. Dopaminergic downregulation, inadequate motor programming and motor coordination impairment lead to decline of supraspinal drive. Motor unit reorganization and inflammatory changes in motor neuron decrease conduction velocity and amplitude of compound muscle action potential...
May 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/28642233/sembragiline-a-novel-selective-monoamine-oxidase-type-b-inhibitor-for-the-treatment-of-alzheimer-s-disease
#9
Edilio Borroni, Bernd Bohrmann, Fiona Grueninger, Eric Prinssen, Stephane Nave, Hansruedi Loetscher, Shankar J Chinta, Subramanian Rajagopalan, Anand Rane, Almas Siddiqui, Bart Ellenbroek, Juerg Messer, Axel Pahler, Julie K Anderson, Rene Wyler, Andrea M Cesura
Monoamine oxidase B (MAO-B) has been implicated in the pathogenesis of Alzheimer's disease (AD) and other neurodegenerative disorders. Increased MAO-B expression in astroglia has been observed adjacent to amyloid plaques in AD patient brains. This phenomenon is hypothesised to lead to increased production of hydrogen peroxide and reactive oxygen species (ROS), thereby contributing to AD pathology. Therefore, reduction of ROS-induced oxidative stress via inhibition of MAO-B activity may delay the progression of the disease...
June 22, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28641772/susac-syndrome-a-differential-diagnosis-of-white-matter-lesions
#10
Mariano Marrodan, Jorge Correale, Lucas Alessandro, Mariela Amaya, Maria Eugenia Fracaro, Alejandro Alfredo Köhler, Marcela Fiol
INTRODUCTION: Susac Syndrome is an autoimmune endotheliopathy affecting capillaries and precapillary arterioles of the brain, inner ear and retina. The classic symptom triad includes visual disturbances, hypoacusia, and encephalopathy, but is rarely fully manifest at onset. The syndrome typically follows an active fluctuating monophasic course. Typical imaging findings on brain magnetic resonance show central fiber microischemias/microinfarctions of the corpus callosum known as "snow balls", as well as lineal infarcts and upper callosal fiber involvement...
July 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28641768/disease-reactivation-following-fingolimod-withdrawal-in-multiple-sclerosis-two-case-reports
#11
Benedetta Forci, Alice Mariottini, Claudia Mechi, Luca Massacesi, Anna Repice
BACKGROUND: Severe multiple sclerosis reactivation following second line treatment withdrawal, defined "rebound syndrome", is becoming a prominent issue to consider when deciding to discontinue a treatment. In particular disease recurrence after cessation of fingolimod is actually poorly characterized as to date, only case reports and small case series have been described. CASE PRESENTATION: We herewith describe 2 cases of severe disease reactivation associated to a high number of brain gadolinium enhancing lesions at magnetic resonance imaging (MRI) despite high dose steroid treatment, observed a few weeks after cessation of fingolimod administration, causing a substantial and persistent worsening of patient disability that required long term hospitalization...
July 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28641519/neural-stem-cells-and-human-induced-pluripotent-stem-cells-to-model-rare-cns-diseases
#12
Lidia De Filippis, Cristina Zalfa, Daniela Ferrari
Despite the great effort spent over the last decades to unravel the pathological mechanisms underpinning the development of central nervous system disorders, most of them remain still unclear. In particular, the study of rare brain diseases is hurdled by the lack of post-mortem samples and of reliable epidemiological studies, thus the setting of in vitro modeling systems appears essential to dissect the puzzle of genetic and environmental alterations affecting neural cells viability and functionality The isolation and expansion in vitro of embryonic (ESC) and fetal neural stem cells (NSC) from human tissue has efficiently allowed to model several neurological diseases "in a dish" and has also provided a novel platform to test potential therapeutic strategies in a pre-clinical setting...
June 15, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28641497/a-neuropsychiatric-analysis-of-the-cotard-delusion
#13
Aradhana Sahoo, Keith A Josephs
Cotard's syndrome, a condition in which the patient denies his or her own existence or the existence of body parts, is a rare illness that has been reported in association with several neuropsychiatric diagnoses. The majority of published literature on the topic is in the form of case reports, many of which are several years old. The authors evaluated associated diagnoses, neuroimaging, and treatments recorded in patients diagnosed with Cotard's syndrome at their institution. A search of the Mayo Clinic database for patients with mention of signs and symptoms associated with Cotard's in their records between 1996 and 2016 was conducted...
June 23, 2017: Journal of Neuropsychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28640657/retinal-findings-on-oct-in-systemic-conditions
#14
Preeti Patil Chhablani, Vikas Ambiya, Akshay G Nair, Sailaja Bondalapati, Jay Chhablani
PURPOSE: Imaging technology has advanced by leaps and bounds in the recent past and has resulted in a much greater understanding of ocular diseases. The aim of this review article is to summarize optical coherence tomography (OCT) findings of various systemic conditions. METHOD: A systematic literature search of the Medline/PubMed database was performed. English articles up to April 2015 were included. Terms used for search included: Alzheimer's Disease; Multiple Sclerosis; Parkinson's Disease; Behçet's Disease; Schizophrenia; Migraine; Obstructive Sleep Apnea Syndrome; Neurofibromatosis; Sickle Cell Disease; Renal diseases; Lupus Retinopathy; Valsalva Retinopathy; Whiplash Retinopathy; Shaken-Baby Syndrome; Choroidal metastases; Intracranial Hypertension; Drug toxicity; Deferoxamine; Sildenafil; Tamoxifen; Hydroxychloroquine; Chloroquine; Ethambutol; Lead; Sickle Cell Disease; and Thalassemia along with OCT...
June 22, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28640120/working-hand-syndrome-a-new-definition-of-non-classified-polyneuropathy-condition
#15
Gökhan Özdemir
The aim of this paper was to define an unexplained non-classified polyneuropathy condition as a new neurological disease. This new diagnosis of occupation related polyneuropathy has been named as "WORKING HAND SYNDROME (WHS)."This study collected and compared clinic and electrophysiological analyze data from healthy controls, WHS patients, carpal tunnel syndrome (CTS) patients and polyneuropathy patients. The WHS patients presented to the clinic with pain, numbness, tingling, and burning sensations in their hands that increased significantly during rest and nighttime...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639956/small-fiber-neuropathy-a-disabling-and-underrecognized-syndrome
#16
Mareye Voortman, Daan Fritz, Oscar J M Vogels, Filip Eftimov, Diederik van de Beek, Matthijs C Brouwer, Marjolein Drent
PURPOSE OF REVIEW: To discuss cause, clinical manifestations, diagnostics, and treatment of small fiber neuropathy (SFN). The diagnosis is difficult and can be easily missed. RECENT FINDINGS: SFN causes high morbidity with disabling symptoms and impact on quality of life. Patients may benefit from being diagnosed with SFN, even if no underlying cause is identified and no specific treatment is yet available. Recently, genetic mutations as a possible cause of SFN were identified...
July 20, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28639826/imaging-appearance-of-advanced-chronic-adhesive-arachnoiditis-a-retrospective-review
#17
Tara L Anderson, Jonathan M Morris, John T Wald, Amy L Kotsenas
OBJECTIVE: Chronic adhesive arachnoiditis (CAA) is rare and has potentially devastating clinical consequences. The objective of this article is to review the clinical features of CAA and describe its appearance on imaging, to increase radiologists' awareness of this challenging diagnosis. MATERIALS AND METHODS: Twenty-nine cases of advanced CAA seen at our institution over 18 years (1995-2013) were retrospectively reviewed. Chart review was performed, with attention given to data on clinical presentation, suspected cause, and interventions performed...
June 22, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28639189/enhancing-neuronogenesis-and-counteracting-neuropathogenic-gene-haploinsufficiencies-by-rna-gene-activation
#18
Antonello Mallamaci
Small activating RNAs (saRNAs), targeting endogenous genes and stimulating their transcription, are a promising tool for implementing a variety of neurotherapeutic strategies. Among these there is the stimulation of select histogenetic subroutines for purposes of cell-based brain repair, as well as the therapeutic treatment of gene expression deficits underlying severe neurological disorders.We employed RNA activation (RNAa) to transactivate the Emx2 transcription factor gene in embryonic cortico-cerebral precursor cells...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28639102/the-clinical-and-genetic-characteristics-in-children-with-mitochondrial-disease-in-china
#19
Fang Fang, Zhimei Liu, Hezhi Fang, Jian Wu, Danmin Shen, Suzhen Sun, Changhong Ding, Tongli Han, Yun Wu, Junlan Lv, Lei Yang, Shufang Li, Jianxin Lv, Ying Shen
Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing (NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28638895/chronic-orofacial-pain-burning-mouth-syndrome-and-other-neuropathic-disorders
#20
Raymond C Tait, McKenzie Ferguson, Christopher M Herndon
Chronic orofacial pain is a symptom associated with a wide range of neuropathic, neurovascular, idiopathic, and myofascial conditions that affect a significant proportion of the population. While the collective impact of the subset of the orofacial pain disorders involving neurogenic and idiopathic mechanisms is substantial, some of these are relatively uncommon. Hence, patients with these disorders can be vulnerable to misdiagnosis, sometimes for years, increasing the symptom burden and delaying effective treatment...
March 2017: Journal of Pain Management & Medicine
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