keyword
MENU ▼
Read by QxMD icon Read
search

Periphereal neurology

keyword
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#1
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28819716/neurological-complications-of-therapeutic-monoclonal-antibodies-trends-from-oncology-to-rheumatology
#2
REVIEW
Chandler Gill, Stasia Rouse, Ryan D Jacobson
PURPOSE OF REVIEW: This review is to describe the scope of neurological complications associated with monoclonal antibody-based therapies, applied across medical specialties, to demonstrate the common and rare neurological syndromes that may be encountered in clinical practice according to the therapeutic agent being receive, and to explain appropriate work-up, diagnosis, and management of drug complications, as supported by the literature. RECENT FINDINGS: The number of commercially available, evidence-based therapeutic monoclonal antibodies continues to expand...
August 17, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28818149/cerebellar-infarction-presenting-with-acute-vestibular-syndrome-in-two-u-s-air-force-pilots
#3
Roger R Hesselbrock
BACKGROUND: Cerebellar infarction is an uncommon but serious cause of isolated acute vestibular symptoms, particularly in young, healthy individuals, and can easily be overlooked. We present two cases of cerebellar infarction in U.S. Air Force pilots, one of which occurred during flight. CASE REPORTS: A 41-yr-old man developed acute vertigo, disequilibrium, nausea, and headache, with progressive slow symptomatic improvement, and presented to medical attention 4 d after symptom onset...
September 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28817461/risk-factors-and-outcomes-of-thalidomide-induced-peripheral-neuropathy-in-a-pediatric-inflammatory-bowel-disease-cohort
#4
Matteo Bramuzzo, Gabriele Stocco, Marcella Montico, Serena Arrigo, Angela Calvi, Paola Lanteri, Stefano Costa, Salvatore Pellegrino, Giuseppe Magazzù, Jacopo Barp, Silvia Ghione, Paolo Lionetti, Giovanna Zuin, Massimo Fontana, Teresa Di Chio, Giuseppe Maggiore, Marzia Lazzerini, Marianna Lucafò, Chiara Udina, Maria Chiara Pellegrin, Andrea Chicco, Marco Carrozzi, Giuliana Decorti, Alessandro Ventura, Stefano Martelossi
BACKGROUND: Thalidomide is an effective therapy in children with inflammatory bowel disease refractory to standard treatments, but thalidomide-induced peripheral neuropathy (TiPN) limits its long-term use. We aimed to investigate the risk factors and the outcome of TiPN in children with inflammatory bowel disease. METHODS: Within a retrospective multicenter cohort study, we evaluated prevalence and evolution of TiPN. Clinical data and candidate genetic profiles of patients with and without TiPN were compared with detect predisposing factors...
August 16, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28814933/inflammatory-biomarkers-and-their-value-in-predicting-survival-and-outcome-among-patients-with-spontaneous-intracerebral-haemorrhage
#5
Senthil Kumar Rajapathy, Zamzuri Idris, Regunath Kandasamy, Albert Wong Sii Hieng, Jafri Malin Abdullah
BACKGROUND: Spontaneous intracerebral haemorrhage (SICH) has emerged as one of the most devastating forms of stroke in recent decades. This disease is noted to carry a 30-day mortality rate of approximately 45%. An increasing number of studies have implicated a complex immune-mediated and inflammation-mediated cascade of responses in the pathophysiology of SICH and the resultant neurologic outcome. Several clinical studies have demonstrated an association between inflammatory markers and outcome in patients with SICH...
May 2017: Malaysian Journal of Medical Sciences: MJMS
https://www.readbyqxmd.com/read/28812959/periocular-manifestations-of-trigeminal-trophic-syndrome-a-case-series-and-literature-review
#6
Katherine A McVeigh, Morag Adams, Richard Harrad, Rebecca Ford
Trigeminal trophic syndrome (TTS) is a condition whereby persistent facial ulceration presents consequent to central or peripheral insult to the trigeminal nerve. Lesions are created by repetitive self-inflicted manipulation and trauma of dysaesthetic skin within the trigeminal dermatome. We discuss four cases with aetiologies varied from presumed microvascular compromise to resection of cerebral meningioma, cerebrovascular accident, and herpes zoster ophthalmicus. We discuss the management of the under-recognised associated periocular skin ulcerations that result from physical manipulation of dysesthic skin and prove to be persistent and challenging to treat...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28809704/kilohertz-electrical-stimulation-nerve-conduction-block-effects-of-electrode-material
#7
Yogi A Patel, Brian S Kim, Robert J Butera
Kilohertz electrical stimulation (KES) has enabled a novel new paradigm for spinal cord and peripheral nerve stimulation to treat a variety of neurological diseases. KES can excite or inhibit nerve activity and is used in many clinical devices today. However, the impact of different electrode materials on the efficacy of KES is unknown. We investigated the effect of different electrode materials and their respective charge injection mechanisms on KES nerve block thresholds using 20 and 40 kHz current-controlled sinusoidal KES waveforms...
August 10, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28799704/the-nature-consequences-and-management-of-neurological-disorders-in-chronic-kidney-disease
#8
REVIEW
Bahman Jabbari, Nosratola D Vaziri
Perhaps no other organ in the body is affected as often and in as many ways as the brain is in patients with chronic kidney disease (CKD). Several factors contribute to the neurological disorders in CKD including accumulation of uremic toxins, metabolic and hemodynamic disorders, oxidative stress, inflammation, and impaired blood brain barrier among others. The neurological disorders in CKD involve both peripheral and central nervous system. The peripheral neurological symptoms of CKD are due to somatic and cranial peripheral neuropathies as well as a myopathy...
August 11, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28798922/practical-approach-to-the-patient-with-acute-neuromuscular-weakness
#9
REVIEW
Rajeev Nayak
Acute neuromuscular paralysis (ANMP) is a clinical syndrome characterized by rapid onset muscle weakness progressing to maximum severity within several days to weeks (less than 4 wk). Bulbar and respiratory muscle weakness may or may not be present. It is a common neurological emergency which requires immediate and careful investigations to determine the etiology because accurate diagnosis has significant impact on therapy and prognosis. Respiratory failure caused by neuromuscular weakness is considered as more critical than lung disease because its development may be insidious or subtle until sudden decompensation leads to life threatening hypoxia...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28798317/sphingomyelin-as-a-myelin-biomarker-in-csf-of-acquired-demyelinating-neuropathies
#10
Giovanna Capodivento, Davide Visigalli, Martina Garnero, Roberto Fancellu, Michela Demetra Ferrara, Abdul Basit, Zeeshan Hamid, Vito Paolo Pastore, Silvano Garibaldi, Andrea Armirotti, Gianluigi Mancardi, Carlo Serrati, Elisabetta Capello, Angelo Schenone, Lucilla Nobbio
Fast, accurate and reliable methods to quantify the amount of myelin still lack, both in humans and experimental models. The overall objective of the present study was to demonstrate that sphingomyelin (SM) in the cerebrospinal fluid (CSF) of patients affected by demyelinating neuropathies is a myelin biomarker. We found that SM levels mirror both peripheral myelination during development and small myelin rearrangements in experimental models. As in acquired demyelinating peripheral neuropathies myelin breakdown occurs, SM amount in the CSF of these patients might detect the myelin loss...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28797868/neuropathic-pain-and-nerve-growth-factor-in-chemotherapy-induced-peripheral-neuropathy-prospective-clinical-pathological-study
#11
R Velasco, X Navarro, M Gil-Gil, M Herrando-Grabulosa, A Calls, J Bruna
CONTEXT: Neuropathic pain can be present in patients developing chemotherapy-induced peripheral neuropathy (CIPN). Nerve growth factor (NGF) is trophic to small sensory fibers and regulates nociception. OBJECTIVES: We investigated the changes in serum NGF and intraepidermal nerve fiber density (IENFD) in skin biopsies of cancer patients receiving neurotoxic chemotherapy in a single-center prospective observational study. METHODS: Patients were evaluated before and after chemotherapy administration...
August 7, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28796031/anti-yo-positive-and-late-onset-paraneoplastic-cerebellar-degeneration-associated-with-ovarian-carcinoma-a-case-report
#12
Dan Cui, Li Xu, Wen-Yi Li, Wei-Dong Qian
RATIONALE: Paraneoplastic cerebellar degeneration (PCD) is a rare nonmetastatic neurological complication often associated with ovarian, breast, and other gynecologic cancers. Anti-Yo is one of the antionconeural antibodies found in patients with PCD. It primarily emerges before a malignancy is detected. PATIENT CONCERNS: In this report, we describe an unusual case involving a patient who exhibited anti-Yo-positive PCD 1 year after being diagnosed with ovarian cancer...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28795412/severe-neurological-disorders-and-refractory-aspergillosis-in-an-adolescent-treated-by-vincristine-and-voriconazole
#13
Y Bennis, S Bodeau, A Lutun, A Gourmel, C Solas, S Quaranta, N Guillaume, T Chouaki, A-S Lemaire-Hurtel, K Masmoudi
WHAT IS KNOWN AND OBJECTIVE: Voriconazole and vincristine are major therapeutics in paediatric haematology. However, the risk-benefit ratio of the treatment of invasive aspergillosis with voriconazole in patients receiving vincristine-based chemotherapy remains unclear. CASE DESCRIPTION: We report severe peripheral and central neurological disorders in a 14-year-old girl with T-cell acute lymphoblastic leukaemia and pulmonary aspergillosis. The case describes a strong exacerbation by voriconazole of the vincristine-induced neuropathic pains...
August 10, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28794966/synthetic-cannabinoid-induced-acute-respiratory-depression-case-series-and-literature-review
#14
Mark Henry Alon, Margaret Olibrice Saint-Fleur
Synthetic Cannabinoids are a street drug that is widely attainable and cheap compared to natural cannabis, and has variable potency and unpredictable effects with no commercially available diagnostic test to confirm its presence. Similar to natural cannabis, Synthetic Cannabinoid intoxication can present in several ways with the most common emergency room presentations to be of neurologic and psychiatric manifestation. The respiratory depressive effect of Synthetic Cannabinoids has not been well documented in medical literature...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28794847/neuro-otological-and-peripheral-nerve-involvement-in-fabry-disease
#15
Sergio Carmona, Romina Weinschelbaum, Ana Pardal, Cintia Marchesoni, Paz Zuberbuhler, Patricia Acosta, Guillermo Cáceres, Isaac Kisinovsky, Luciana Bayón, Ricardo Reisin
Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular symptoms, and assess neurophysiological involvement of the VIII cranial nerve, correlating these findings with clinical and neurophysiological features of peripheral neuropathy...
July 18, 2017: Audiology Research
https://www.readbyqxmd.com/read/28794205/the-human-serum-metabolome-of-vitamin-b-12-deficiency-and-repletion-and-associations-with-neurological-function-in-elderly-adults
#16
Alex Brito, Dmitry Grapov, Johannes Fahrmann, Danielle Harvey, Ralph Green, Joshua W Miller, Sergey N Fedosov, Setareh Shahab-Ferdows, Daniela Hampel, Theresa L Pedersen, Oliver Fiehn, John W Newman, Ricardo Uauy, Lindsay H Allen
Background: The specific metabolomic perturbations that occur in vitamin B-12 deficiency, and their associations with neurological function, are not well characterized.Objective: We sought to characterize the human serum metabolome in subclinical vitamin B-12 deficiency and repletion.Methods: A before-and-after treatment study provided 1 injection of 10 mg vitamin B-12 (with 100 mg pyridoxine and 100 mg thiamin) to 27 community-dwelling elderly Chileans (∼74 y old) with vitamin B-12 deficiency, as evaluated with serum vitamin B-12, total plasma homocysteine (tHcy), methylmalonic acid (MMA), and holotranscobalamin...
August 9, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28794150/peripheral-neuropathy-in-complex-inherited-diseases-an-approach-to-diagnosis
#17
REVIEW
Alexander M Rossor, Aisling S Carr, Helen Devine, Hoskote Chandrashekar, Ana Lara Pelayo-Negro, Davide Pareyson, Michael E Shy, Steven S Scherer, Mary M Reilly
Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy, for example, spasticity, the type of neuropathy and the other neurological and non-neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions...
August 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28794131/heterogeneous-clinical-spectrum-of-dnajc12-deficient-hyperphenylalaninemia-from-attention-deficit-to-severe-dystonia-and-intellectual-disability
#18
Francjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, Mohammed Al-Owain, Khushnooda Ramzan, Salwa M Alkhalifi, Roelineke J Lunsing, Rebecca M Heiner-Fokkema, Anahita Rassi, Corinne Gemperle-Britschgi, Georg F Hoffmann, Nenad Blau, Beat Thöny
BACKGROUND: Autosomal recessive mutations in DNAJC12, encoding a cochaperone of HSP70 with hitherto unknown function, were recently described to lead to hyperphenylalaninemia, central monoamine neurotransmitter (dopamine and serotonin) deficiency, dystonia and intellectual disability in six subjects affected by homozygous variants. OBJECTIVE: Patients exhibiting hyperphenylalaninemia in whom deficiencies in hepatic phenylalanine hydroxylase and tetrahydrobiopterin cofactor metabolism had been excluded were subsequently analysed for DNAJC12 variants...
August 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28792284/neurological-involvement-associated-with-plasmodium-vivax-malaria-from-pakistan
#19
Yousaf Abdullah Khan, Usman Hameed Mian, Najia Karim Ghanchi, Ali Bin Sarwar Zubairi, Mohammad Asim Beg
Plasmodium vivax is the most common specie causing malaria outside Africa with approximately 13.8 million reported cases worldwide. We report case of P. vivax infection with cerebral involvement. A nine year old boy presented with high grade fever accompanied by projectile vomiting and abnormal behavior later he developed seizures, shock, and unconsciousness. P. vivax monoinfection was diagnosed based on peripheral smears and PCR. After antimalarial therapy, patient made full recovery. Current case highlights increasing trend of cerebral complications caused by P...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/28781733/median-nerve-cavernous-hemangioma
#20
Mohammed Al-Garnawee, Marwan Najjar
Hemangiomas of the median nerve are extremely rare; only 12 cases have been reported in the literature. We discuss a patient who presented with paresthesia and pain along the distribution of the left median nerve secondary to a cavernoma of the proximal part of the nerve as suspected on MRI scan. Total removal of the mass was achieved with immediate relief of the symptoms and no neurologic deficit. We conclude that despite being quite rare, the diagnosis of occult vascular lesions of peripheral nerves such as the median nerve, should be considered, especially when other common pathologies are excluded...
May 2017: Basic and Clinical Neuroscience
keyword
keyword
81028
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"