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thiamine in neurology

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https://www.readbyqxmd.com/read/27905264/biotin-thiamine-responsive-basal-ganglia-disease-catastrophic-consequences-of-delay-in-diagnosis-and-treatment
#1
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...
December 1, 2016: 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
#2
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...
November 9, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27763485/wernicke-s-encephalopathy-due-to-hyperemesis-gravidarum-clinical-and-magnetic-resonance-imaging-characteristics
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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...
June 20, 2016: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/27191787/treatment-of-genetic-defects-of-thiamine-transport-and-metabolism
#13
Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, Laura Martí-Sánchez, Pilar Rodriguez-Pombo, Rafael Artuch, Belén Pérez-Dueñas
INTRODUCTION: Thiamine is a key cofactor for energy metabolism in brain tissue. There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes. Neurological involvement predominates in three of them (SLC19A3, SCL25A19 and TPK1), whereas patients with SLC19A2 mutations mainly present extra-neurological features (e.g. diabetes mellitus, megaloblastic anaemia and sensori-neural hearing loss)...
July 2016: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/27185216/thiamine-as-a-neuroprotective-agent-after-cardiac-arrest
#14
Kohei Ikeda, Xiaowen Liu, Kotaro Kida, Eizo Marutani, Shuichi Hirai, Masahiro Sakaguchi, Lars W Andersen, Aranya Bagchi, Michael N Cocchi, Katherine M Berg, Fumito Ichinose, Michael W Donnino
AIMS: Reduction of pyruvate dehydrogenase (PDH) activity in the brain is associated with neurological deficits in animals resuscitated from cardiac arrest. Thiamine is an essential co-factor of PDH. The objective of this study was to examine whether administration of thiamine improves outcomes after cardiac arrest in mice. Secondarily, we aimed to characterize the impact of cardiac arrest on PDH activity in mice and humans. METHODS: Animal study: Adult mice were subjected to cardiac arrest whereupon cardiopulmonary resuscitation was performed...
August 2016: Resuscitation
https://www.readbyqxmd.com/read/27175122/wernicke-s-encephalopathy-after-total-parenteral-nutrition-in-patients-with-crohn-s-disease
#15
In Seub Shin, Hyeri Seok, Yeong Hee Eun, You-Bin Lee, Seung-Eun Lee, Eun Ran Kim, Dong Kyung Chang, Young-Ho Kim, Sung Noh Hong
Micronutrient deficiencies in Crohn's disease (CD) patients are not uncommon and usually result in a combination of reduced dietary intake, disease-related malabsorption, and a catabolic state. Decreased serum thiamine levels are often reported in patients with CD. Wernicke's encephalopathy (WE) is a severe form of thiamine deficiency that can cause serious neurologic complications. Although WE is known to occur frequently in alcoholics, a number of non-alcoholic causes have also been reported. Here, we report two cases of non-alcoholic WE that developed in two severely malnourished CD patients who were supported by prolonged total parenteral nutrition without thiamine supplementation...
April 2016: Intestinal Research
https://www.readbyqxmd.com/read/27162754/wernicke-s-encephalopathy-in-a-patient-with-masticator-and-parapharyngeal-space-abscess-a-case-report
#16
Young-Jai Chin, Kyu-Ho Yoon, Kwan-Soo Park, Jae-An Park, Min-Ho Woo
Wernicke's encephalopathy is a fatal neurological disease caused by thiamine deficiency. Many reports indicate that Wernicke's encephalopathy is caused by malnutrition. We report the case of a 79-year-old female patient who had a left masticator space and parapharyngeal space abscess who was diagnosed with Wernicke's encephalopathy. She reported problems while eating due to the presence of the abscess, but the true quantities of food she was ingesting were never assessed. Clinicians have a responsibility to provide adequate nutritional support by ensuring that patients receive adequate nutrition...
April 2016: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/27158436/severe-acute-axonal-neuropathy-following-treatment-with-arsenic-trioxide-for-acute-promyelocytic-leukemia-a-case-report
#17
Marcus Kühn, Kety Sammartin, Mitja Nabergoj, Fabrizio Vianello
Peripheral neuropathy is a common complication of arsenic toxicity. Symptoms are usually mild and reversible following discontinuation of treatment. A more severe chronic sensorimotor polyneuropathy characterized by distal axonal-loss neuropathy can be seen in chronic arsenic exposure. The clinical course of arsenic neurotoxicity in patients with coexistence of thiamine deficiency is only anecdotally known but this association may potentially lead to severe consequences. We describe a case of acute irreversible axonal neuropathy in a patient with hidden thiamine deficiency who was treated with a short course of arsenic trioxide for acute promyelocytic leukemia...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27129864/concomitants-of-alcoholism-differential-effects-of-thiamine-deficiency-liver-damage-and-food-deprivation-on-the-rat-brain-in-vivo
#18
Natalie M Zahr, Edith V Sullivan, Torsten Rohlfing, Dirk Mayer, Amy M Collins, Richard Luong, Adolf Pfefferbaum
RATIONALE: Serious neurological concomitants of alcoholism include Wernicke's encephalopathy (WE), Korsakoff's syndrome (KS), and hepatic encephalopathy (HE). OBJECTIVES: This study was conducted in animal models to determine neuroradiological signatures associated with liver damage caused by carbon tetrachloride (CCl4), thiamine deficiency caused by pyrithiamine treatment, and nonspecific nutritional deficiency caused by food deprivation. METHODS: Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) were used to evaluate brains of wild-type Wistar rats at baseline and following treatment...
July 2016: Psychopharmacology
https://www.readbyqxmd.com/read/27100861/-clinical-appearance-and-scalable-profile-thiamine-deficiency-in-prison-in-guinea-study-of-thirty-eight-observations
#19
F A Cissé, M M Konaté, W A Ekué, M Cissé, N Camara, B S Djigué, A O M Baldé, I A Camara, F L Y Diallo, B S Diallo, F Konaté, L F Barry, I Diakhaté, A Cissé
Cardiovascular and neurological manifestations associated with thiamine deficiency in Guinean prisons are common but not reported.We performed a prospective study of 38 cases related to vitamin B1 deficiency over a period of 4 years. In this population, the literature of traditional data gathered: frequency peak after thirty (92.6%) and clear representation male (sex ratio M/F: 18/1). The clinical symptomatology remains essentially dominated by sensorimotor polyneuropathy and pure sensory (52.2%), overall heart failure (31...
May 2016: Bulletin de la Société de Pathologie Exotique
https://www.readbyqxmd.com/read/27088109/thirty-days-without-a-bite-wernicke-s-encephalopathy-in-a-patient-with-paranoid-schizophrenia
#20
Mélanie Langlois, Marie-Claire Doré, Robert Laforce
Wernicke's Encephalopathy (WE) is a preventable neurologic condition characterized by altered mental status, ophthalmoplegia, and ataxia. Although historically associated with alcoholism, a few authors have described WE in patients with non-alcohol related psychiatric disorders. We report herein the case of a 36-year-old young man with paranoid schizophrenia who was brought to hospital for confusion and difficulties with his vision. His roommate said he had gone about thirty days without eating '…because he was on a slimming cure'...
September 25, 2014: Journal of Neurological Disorders
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