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thiamine in neurology

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https://www.readbyqxmd.com/read/28284389/biochemical-analyses-of-cerebrospinal-fluid-for-the-diagnosis-of-neurometabolic-conditions-what-can-we-expect
#1
Marta Batllori, Marta Molero-Luis, Mercedes Casado, Cristina Sierra, Rafael Artuch, Aida Ormazabal
In this article, we review the state-of-the-art analysis of different biomarkers in the cerebrospinal fluid for the diagnosis of genetically conditioned, rare, neurometabolic diseases, including glucose transport defects, neurotransmitter (dopamine, serotonin, and gamma-aminobutyric acid) and pterin deficiencies, and vitamin defects (folate, vitamin B6, and thiamine) that affect the brain. The analysis of several key metabolites are detailed, which thus highlights the preanalytical and analytical factors that should be cautiously controlled to avoid misdiagnosis; moreover, these factors may facilitate an adequate interpretation of the biochemical profiles in the context of severe neuropediatric disorders...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28224875/-thiamine-in-patients-with-alcohol-use-disorder-and-wernicke-s-encephalopathy
#2
D J Brinkman, J K Bekema, M A Kuijenhoven, J W Wijnia, M J H J Dekker, M A van Agtmael
- Patients with alcohol use disorder frequently have a thiamine deficiency.- A potential life-threatening complication of thiamine deficiency is Wernicke's encephalopathy.- Since it is clinically difficult to recognize Wernicke's encephalopathy, this condition is often treated inadequately. - Early supplementation of thiamine is important to avoid irreversible neurological damage. - There are differences between the Dutch guidelines regarding the supplementation of thiamine for the treatment of alcoholic use disorder, and those for Wernicke's encephalopathy...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28215312/prevalence-of-clinical-thiamine-deficiency-in-individuals-with-medically-complicated-obesity
#3
Anand Nath, Tung Tran, Timothy R Shope, Timothy R Koch
Thiamine is a vitamin whose deficient can result in multiorgan symptoms. We described an 18% prevalence of clinical thiamine deficiency after gastric bypass surgery. Our hypotheses are that individuals with medically complicated obesity frequently have clinical thiamine deficiency and that diabetes mellitus is a mechanism for development of clinical thiamine deficiency. This is a single institution, retrospective observational study of consecutive patients with a body mass index of at least 35 kg/m(2) who were evaluated in preoperative gastrointestinal bariatric clinic from 2013 to 2015...
January 2017: Nutrition Research
https://www.readbyqxmd.com/read/28193519/thiamine-deficiency-induces-endoplasmic-reticulum-stress-and-oxidative-stress-in-human-neurons-derived-from-induced-pluripotent-stem-cells
#4
Xin Wang, Mei Xu, Jacqueline A Frank, Zun-Ji Ke, Jia Luo
Thiamine (vitamin B1) deficiency (TD) plays a major role in the etiology of Wernicke's encephalopathy (WE) which is a severe neurological disorder. TD induces selective neuronal cell death, neuroinflammation, endoplasmic reticulum (ER) stress and oxidative stress in the brain which are commonly observed in many aging-related neurodegenerative diseases, such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD) and progressive supranuclear palsy (PSP). However, the underlying cellular and molecular mechanisms remain unclear...
April 1, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28109775/treatment-of-rats-with-the-jak-2-inhibitor-fedratinib-does-not-lead-to-experimental-wernicke-s-encephalopathy
#5
Alan S Hazell, Szeifoul Afadlal, David A Cheresh, Ashraf Azar
Recent clinical trials suggest that patients with myelofibrosis can develop Wernicke's encephalopathy (WE) when treated with fedratinib, a specific Janus kinase-2 (JAK-2) inhibitor. To investigate this issue, we have examined (1) if fedratinib can produce or alter the course of this disorder, (2) its effects on thiamine-dependent enzyme activity and thiamine status, and (3) its influence on the uptake of thiamine. Animals administered fedratinib for 28days at a comparable dose used to treat human cases of myelofibrosis showed no evidence of clinical signs of thiamine deficiency (TD)...
March 6, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28064230/high-dose-parenteral-thiamine-in-treatment-of-wernicke-s-encephalopathy-case-series-and-review-of-the-literature
#6
Andrew Nishimoto, Justin Usery, John C Winton, Jennifer Twilla
BACKGROUND: Thiamine deficiency can lead to Wernicke's encephalopathy (WE), an acute and potentially life-threatening neurological disorder. Even though the main treatment modality for WE consists of thiamine replacement, evidence supporting an optimal dosing strategy and duration is unclear. PATIENTS AND METHODS: We present a single-center case series of eleven patients that were admitted with possible WE and treated with high-dose parenteral thiamine. RESULTS: Patients with suspected WE were treated with ≥500 mg intravenous thiamine for a median of 3 days with 73% of patients (eight out of eleven) displaying symptom resolution or improvement after treatment...
January 2, 2017: In Vivo
https://www.readbyqxmd.com/read/27988455/delayed-diagnosis-of-wernicke-encephalopathy-with-irreversible-neural-damage-after-subtotal-gastrectomy-for-gastric-cancer-a-case-of-medical-liability
#7
Pamela Tozzo, Luciana Caenazzo, Daniele Rodriguez, Matteo Bolcato
INTRODUCTION: Wernicke's encephalopathy (WE) is a neurological syndrome caused by thiamine deficiency, and clinically characterized by ophthalmoplegia, ataxia and acute confusion. In developed countries, most cases of WE have been seen in alcohol misusers. Other reported causes are gastrointestinal tract surgery, hyperemesis gravidarum, chronic malnutrition, prolonged total parenteral nutrition without thiamine supplementation, and increased nutrient requirements as in trauma or septic shock...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27984051/brain-endothelial-dysfunction-following-pyrithiamine-induced-thiamine-deficiency-in-the-rat
#8
Sumit Sarkar, Serguei Liachenko, Merle G Paule, John Bowyer, Joseph P Hanig
Prolonged vitamin B1 (thiamine) deficiency can lead to neurological disorders such as Wernicke's encephalopathy and Wernicke-Korsakoff Syndrome (WKS) in humans. These thiamine deficiency disorders have been attributed to vascular leakage, blood-brain barrier breakdown and neuronal loss in the diencephalon and brain stem. However, endothelial dysfunction following thiamine deficiency and its relationship to the phenomenon of neurodegeneration has not been clearly elucidated. The present study sought to begin to address this issue by evaluating vascular morphology and integrity in a pyrithiamine (PT)-induced rat model of thiamine deficiency...
October 28, 2016: Neurotoxicology
https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#9
Hussein Algahtani, Saeed Ghamdi, Bader Shirah, Bader Alharbi, Raghad Algahtani, Abdulrahman Bazaid
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. METHODS: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder...
February 2017: Neurological Research
https://www.readbyqxmd.com/read/27894792/pyruvate-dehydrogenase-e1%C3%AE-deficiency-presenting-as-recurrent-acute-proximal-muscle-weakness-of-upper-and-lower-extremities-in-an-8-year-old-boy
#10
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, Ayfer Sakarya-Güneş, Uğur Topçu, Serap Mülayim, Serdar Ceylaner
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare...
January 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27763485/wernicke-s-encephalopathy-due-to-hyperemesis-gravidarum-clinical-and-magnetic-resonance-imaging-characteristics
#11
V V Ashraf, J Prijesh, R Praveenkumar, K Saifudheen
Hyperemesis gravidarum-induced Wernicke's encephalopathy (WE) is an underestimated condition. The purpose of this study is to improve its awareness and early diagnosis. We report five cases of WE secondary to hyperemesis gravidarum. Classic triad of encephalopathy, ataxia, and ocular signs was seen in four out of five patients. Two unusual features noted in this series were papilledema in one patient and severe sensory-motor peripheral neuropathy in one patient. Magnetic resonance imaging (MRI) was abnormal in all the five patients, and high signal in medial thalamus and surrounding the aqueduct was the most common abnormality (5/5)...
October 2016: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/27749535/a-case-report-of-biotin-thiamine-responsive-basal-ganglia-disease-in-a-saudi-child-is-extended-genetic-family-study-recommended
#12
Mohammad F Aljabri, Naglaa M Kamal, Moinuddin Arif, Asrar M AlQaedi, Enas Y M Santali
BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated.We herein present our experience with in an extended family study of an index case of BTRBGD aiming to support its AR mode of inheritance, diagnose asymptomatic and missed symptomatic cases, and provide family screening with proper genetic counseling...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27617840/clinical-and-biological-risk-factors-for-neuropsychological-impairment-in-alcohol-use-disorder
#13
Ludivine Ritz, Laurent Coulbault, Coralie Lannuzel, Céline Boudehent, Shailendra Segobin, Francis Eustache, François Vabret, Anne Lise Pitel, Hélène Beaunieux
The effects of alcoholism on cognitive and motor functioning are heterogeneous. While the role of some factors (patterns of alcohol consumption, eating habits or associated liver disease) has been hypothesized, the origins of this heterogeneity remain difficult to establish. The goals of the present study were thus to identify the clinical and biological risk factors for alcohol-related neuropsychological impairments and to determine the threshold beyond which these risk factors can be considered significant...
2016: PloS One
https://www.readbyqxmd.com/read/27515947/cerebral-vasospasm-and-wernicke-encephalopathy-secondary-to-adult-cyclic-vomiting-syndrome-the-role-of-magnesium
#14
Álvaro Sánchez-Larsen, Tomás Segura, Susana García-Muñozguren, Javier Peinado-Ródenas, Joaquín Zamarro, Francisco Hernández-Fernández
BACKGROUND: Magnesium has a regulatory role in the excitability of cell membranes, and is also a cofactor in the phosphorylation of thiamine. Hypomagnesemia has been associated with coronary vasospasm, but its role in cerebrovascular pathology is controversial, and cerebral vasospasm exclusively attributable to hypomagnesemia has not been reported in humans. CASE PRESENTATION: We report the case of a 51-year-old man in whom uncontrollable vomiting, treatment with omeprazole and thiazide, and renal impairment lead to a severe hypomagnesemia (magnesium below the level of detection in blood tests), which secondarily caused Wernicke's encephalopathy and vasospasm in multiple cerebral arteries (seen with cerebral angiography and CT angiography) that presented with a complete right hemisphere neurological deficit...
August 11, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27499405/clinical-awareness-for-health-care-professionals-fatal-encephalopathy-complicating-persistent-vomiting-in-pregnancy
#15
Nnabuike Chibuoke Ngene, Jack Moodley
Women with persistent vomiting during pregnancy need early referral to appropriate health facilities. Delayed referral and inappropriate management may lead to metabolic encephalopathy from a variety of causes, including electrolyte derangements or thiamine deficiency (Wernicke's encephalopathy) (WE). We present a case of persistent vomiting in pregnancy in which there was delayed referral, inappropriate treatment and failure to associate neurological signs such as terminal neck stiffness with WE, resulting in poor fetomaternal outcomes...
August 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27488863/long-term-treatment-with-thiamine-as-possible-medical-therapy-for-friedreich-ataxia
#16
Antonio Costantini, Tiziana Laureti, Maria Immacolata Pala, Marco Colangeli, Simona Cavalieri, Elisa Pozzi, Alfredo Brusco, Sandro Salvarani, Carlo Serrati, Roberto Fancellu
Thiamine (vitamin B1) is a cofactor of fundamental enzymes of cell energetic metabolism; its deficiency causes disorders affecting both the peripheral and central nervous system. Previous studies reported low thiamine levels in cerebrospinal fluid and pyruvate dehydrogenase dysfunction in Friedreich ataxia (FRDA). We investigated the effect of long-term treatment with thiamine in FRDA, evaluating changes in neurological symptoms, echocardiographic parameters, and plasma FXN mRNA levels. Thirty-four consecutive FRDA patients have been continuously treated with intramuscular thiamine 100 mg twice a week and have been assessed with the Scale for the Assessment and Rating of Ataxia (SARA) at baseline, after 1 month, and then every 3 months during treatment...
November 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27416844/wernicke-s-encephalopathy-mimicking-neuropsychiatric-symptoms-in-patients-with-systemic-lupus-erythematosus-a-report-of-three-cases-and-literature-review
#17
S Appenzeller, F Reis, L T Lavras Costallat, J Adams Pérez, C F Saldanha, O A Monticielo
Systemic lupus erythematosus (SLE) is a chronic inflammatory disease that involves many organs and systems. Nervous system involvement in SLE encompasses neurological and psychiatric disorders, and remains a diagnostic and therapeutic challenge. Wernicke's encephalopathy (WE) is a neurological disorder that occurs as a consequence of thiamine deficiency, and its clinical presentation resembles the neuropsychiatric events attributed to SLE (NPSLE). Differentiation between these two entities is crucial because their treatment differs greatly and can change prognosis...
July 14, 2016: Lupus
https://www.readbyqxmd.com/read/27390208/-marchiafava-bignami-disease-case-report
#18
Gyorgy Pinter, Krisztina Borbely, Laszlo Peter
Marchiafava-Bignami disease (MBD) is caused by damage of the corpus callosum. There are acute, subacute and chronic forms, it occurs most frequently among alcoholic patients. A variety of neurological symptoms, epileptic seizures, and coma may be associated with the disease, but the chronic form may start with acute confusion and dementia, interhemispherial disconnection syndrome or with slow progressive changes in behavior. In 2001, only 250 cases were reported, of which 200 died, 30 cases contributed to severe dementia or bed rest, and favorable outcome occured in only 20 cases...
June 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/27389524/first-report-and-histological-features-of-chlamydia-pecorum-encephalitis-in-calves-in-new-zealand
#19
H Hunt, Gmb Orbell, K N Buckle, H J Ha, K E Lawrence, R A Fairley, J S Munday
CASE HISTORY: Between September and October 2013, 40 of 150 crossbred Friesian dairy calves on a farm in the Manawatu region of New Zealand developed neurological signs when between 1 and 3 months of age. Calves were grazed in multiple mobs and calves from each mob were affected. A variable response was observed to initial treatment with thiamine, fluoroquinolone antibiotics and non-steroidal anti-inflammatory drugs. CLINICAL AND PATHOLOGICAL FINDINGS: Affected calves exhibited a range of neurological signs that included generalised depression, hind limb ataxia with a stiff gait, and knuckling of the fetlocks...
November 2016: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/27329387/acute-abdominal-pain-as-a-presenting-symptom-of-beriberi-in-a-pediatric-patient
#20
Roberto J N Nogueira, José E Godoy, Tiago H Souza
Vitamin B1 (thiamine) plays a fundamental role in the proper functioning of the nervous and cardiovascular systems and in glucose metabolism. Because of the inability of the human body to store large amounts of vitamin, continuous restoration through diet is necessary. In the pediatric population, thiamine deficiency has a broad spectrum of clinical presentations, making diagnosis difficult. In this article, we report the case of a 7-month-old child with thiamine deficiency presented with neurological symptoms and simulation of acute abdomen...
December 2016: Journal of Tropical Pediatrics
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