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seizure and vitamin d deficiency

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https://www.readbyqxmd.com/read/29770222/recurrent-vertebral-fractures-in-a-young-adult-a-closer-look-at-bone-health-in-type-1-diabetes-mellitus
#1
Eleanor P Thong, Sarah Catford, Julie Fletcher, Phillip Wong, Peter J Fuller, Helena Teede, Frances Milat
The association between type 1 diabetes mellitus (T1DM) and bone health has garnered interest over the years. Fracture risk is known to be increased in individuals with T1DM, although bone health assessment is not often performed in the clinical setting. We describe the case of a 21-year-old male with longstanding T1DM with multilevel vertebral fractures on imaging, after presenting with acute back pain without apparent trauma. Dual-energy X-ray absorptiometry (DXA) revealed significantly reduced bone mineral density at the lumbar spine and femoral neck...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29674238/calcium-metabolism-serum-markers-in-adult-patients-with-epilepsy-and-the-effect-of-vitamin-d-supplementation-on-seizure-control
#2
Mario Tombini, Andrea Palermo, Giovanni Assenza, Giovanni Pellegrino, Antonella Benvenga, Chiara Campana, Anda Mihaela Naciu, Federica Assenza, Vincenzo Di Lazzaro
PURPOSE: To evaluate serum markers of calcium metabolism in adult patients with epilepsy (PWE) treated with antiepileptic drugs (AEDs) and the effect of vitamin D supplementation on seizure frequency. METHODS: Serum levels of calcium, phosphate, intact parathyroid hormone (iPTH) and 25-hydroxyvitamin D (25[OH]D) were compared in 160 PWE on chronic therapy with AEDs and 42 matched controls. Blood concentrations were analyzed taking into account the different features of epilepsy and treatment...
April 11, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29661756/prevention-of-rickets-and-osteomalacia-in-the-uk-political-action-overdue
#3
REVIEW
Suma Uday, Wolfgang Högler
The consequences of vitamin D and dietary calcium deficiency have become a huge public health concern in the UK. The burden of disease from these deficiencies includes rickets, and hypocalcaemic seizures, dilated cardiomyopathy and mostly occult myopathy and osteomalacia. The increasing burden of the disease is intrinsically linked to ethnicity and the population demographic changes in the UK. Three facts have led to the resurfacing of the English disease: (1) the UK has no ultraviolet sunlight for at least 6 months of the year, (2) dark skin produces far less vitamin D than white skin per unit ultraviolet light exposure, and (3) non-European Union immigration over the last century...
April 16, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29651419/management-of-glioblastoma-multiforme-in-a-patient-treated-with-ketogenic-metabolic-therapy-and-modified-standard-of-care-a-24-month-follow-up
#4
Ahmed M A Elsakka, Mohamed Abdel Bary, Eman Abdelzaher, Mostafa Elnaggar, Miriam Kalamian, Purna Mukherjee, Thomas N Seyfried
Few advances have been made in overall survival for glioblastoma multiforme (GBM) in more than 40 years. Here, we report the case of a 38-year-old man who presented with chronic headache, nausea, and vomiting accompanied by left partial motor seizures and upper left limb weakness. Enhanced brain magnetic resonance imaging revealed a solid cystic lesion in the right partial space suggesting GBM. Serum testing revealed vitamin D deficiency and elevated levels of insulin and triglycerides. Prior to subtotal tumor resection and standard of care (SOC), the patient conducted a 72-h water-only fast...
2018: Frontiers in Nutrition
https://www.readbyqxmd.com/read/29217929/maternal-vitamin-d-deficiency-a-culprit-for-hypocalcaemia-induced-myocardial-failure-in-a-four-month-old-infant-a-case-report-from-tikur-anbessa-specialized-hospital-ethiopia
#5
Tamirat Moges, Yemisirach Shiferaw, Tigist Heye
Background: A rare but reversible cause of dilated cardiomyopathy occurs in infants born to vitamin D deficient mothers due to hypocalcaemia. Case Report: We report a case of dilated cardiomyopathy due to hypocalcaemia secondary to maternal vitamin D deficiency in an infant presented with seizure disorder and heart failure. This was a four-month old female infant with respiratory distress and acute heart failure. The cause of her cardiac failure was dilated cardiomyopathy...
May 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/29197669/vitamin-d-deficiency-in-children-with-epilepsy-taking-valproate-and-levetiracetam-as-monotherapy
#6
Teodoro Durá-Travé, Fidel Gallinas-Victoriano, María Malumbres-Chacón, Paula Moreno-Gónzalez, Sergio Aguilera-Albesa, María Eugenia Yoldi-Petri
OBJECTIVE: The aim of this study is to evaluate if valproate (VPA) and levetiracetam (LEV) as monotherapy are associated with vitamin D deficiency among children with epilepsy. MATERIAL & METHODS: A cross-sectional clinical (seizure types, aetiology of epilepsy, dosage, drug levels, and duration of AED treatment) and blood testing (calcium, phosphorus, 25-OHD and PTH) study was accomplished in 90 epileptic children (AED group: 59 receiving VPA, and 31 receiving LEV) and a control group (244 healthy subjects)...
January 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29061647/pyridoxine-dependent-epilepsy-in-zebrafish-caused-by-aldh7a1-deficiency
#7
Izabella A Pena, Yann Roussel, Kate Daniel, Kevin Mongeon, Devon Johnstone, Hellen Weinschutz Mendes, Marjolein Bosma, Vishal Saxena, Nathalie Lepage, Pranesh Chakraborty, David A Dyment, Clara D M van Karnebeek, Nanda Verhoeven-Duif, Tuan Vu Bui, Kym M Boycott, Marc Ekker, Alex MacKenzie
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therapies. Over 60 years after the initial description of PDE, we report the first animal model for this disease: an aldh7a1-null zebrafish ( Danio rerio ) displaying deficient lysine metabolism and spontaneous and recurrent seizures in the larval stage (10 days postfertilization)...
December 2017: Genetics
https://www.readbyqxmd.com/read/28857845/epilepsy-and-osteoporosis-risk
#8
Philip M Dussault, Antonio A Lazzari
PURPOSE OF REVIEW: It is well-recognized that individuals with epilepsy have an increased risk of vertebral and nonvertebral fractures; this increased risk has been described to be secondary to an increased bone fragility and to an increased risk of falls. Osteoporosis is the most common bone disease which has been characterized by microarchitectural deterioration of trabecula and cortical bone mass with a decrease in bone mineral density and bone strength. Specific side effects of antiepileptic drugs (AEDs) on bone metabolism have been identified; recent research publications further characterized some of the specific side effects of AEDs on bone metabolism...
December 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28612338/nutritional-rickets-and-osteomalacia-in-the-twenty-first-century-revised-concepts-public-health-and-prevention-strategies
#9
REVIEW
Suma Uday, Wolfgang Högler
PURPOSE OF REVIEW: Nutritional rickets and osteomalacia are common in dark-skinned and migrant populations. Their global incidence is rising due to changing population demographics, failing prevention policies and missing implementation strategies. The calcium deprivation spectrum has hypocalcaemic (seizures, tetany and dilated cardiomyopathy) and late hypophosphataemic (rickets, osteomalacia and muscle weakness) complications. This article reviews sustainable prevention strategies and identifies areas for future research...
August 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#10
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Hsjd Working Group, Rafael Artuch, Àngels García-Cazorla
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal cerebrospinal fluid PLP values who presented epilepsy. Only one case had a definite diagnosis (Phelan-McDermid syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28229097/pediatric-hypovitaminosis-d-molecular-perspectives-and-clinical-implications
#11
Rafiu Ariganjoye
Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28163524/afebrile-seizures-as-initial-symptom-of-hypocalcemia-secondary-to-hypoparathyroidism
#12
Anastasia Gkampeta, Eftyxia Kouma, Anastasia Touliopoulou, Efstathios Aggelopoulos, Eleni Vourti
Hypocalcemia is rare in childhood and caused, among other conditions, by hypoparathyroidism. DiGeorge syndrome is the most common cause of hypoparathyroidism in childhood. Presentation of a rare cause of hypocalcemia in childhood and the necessity of measuring serum electrolyte levels in patients presenting with afebrile seizures. a 7.5-year-old female child presented with afebrile seizures lasting 5 min with postictal drowsiness. A similar episode 1 month ago is described. On admission, a positive Trousseau sign, papilledema, and long QTc on electrocardiography were detected...
December 2016: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/27777911/long-term-clinical-outcome-and-the-identification-of-homozygous-cyp27b1-gene-mutations-in-a-patient-with-vitamin-d-hydroxylation-deficient-rickets-type-1a
#13
Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D3). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27353739/a-case-of-vitamin-d-dependent-rickets-type-1a-with-a-novel-mutation-in-the-uzbek-population
#14
Bahar Özcabı, Feride Tahmiscioğlu Bucak, Sevinç Jaferova, Çiğdem Oruç, Amra Adrovic, Serdar Ceylaner, Oya Ercan, Olcay Evliyaoğlu
Vitamin D-dependent rickets type 1A (VDDR-1A) (Online Mendelian Inheritance in Man #264700) is a rare, autosomal recessively inherited disorder due to inactivating mutations in CYP27B1. It is characterized by early onset of rickets with hypocalcemia. We aimed to describe the clinical and laboratory findings in a VDDR-1A case and to report a novel homozygote truncating mutation NM_000785.3 c.403C>T (p.Q135*) in CYP27B1 which to our knowledge is the first described mutation in the Uzbek population. The patient was admitted with tetany at the age of 12 months...
December 1, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27324284/effect-of-dietary-lysine-restriction-and-arginine-supplementation-in-two-patients-with-pyridoxine-dependent-epilepsy
#15
Tatiana Yuzyuk, Amanda Thomas, Krista Viau, Aiping Liu, Irene De Biase, Lorenzo D Botto, Marzia Pasquali, Nicola Longo
Pyridoxine-Dependent Epilepsy (PDE) is a recessive disorder caused by deficiency of α-aminoadipic semialdehyde dehydrogenase in the catabolic pathway of lysine. It is characterized by intractable seizures controlled by the administration of pharmacological doses of vitamin B6. Despite seizure control with pyridoxine, intellectual disability and developmental delays are still observed in some patients with PDE, likely due to the accumulation of toxic intermediates in the lysine catabolic pathway: alpha-aminoadipic semialdehyde (AASA), delta-1-piperideine-6-carboxylate (P6C), and pipecolic acid...
July 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27276866/case-report-of-an-infant-with-severe-vitamin-d-deficiency-rickets-manifested-as-hypocalcemic-seizures
#16
Biljana Vuletić, Slavica Marković, Zoran Igrutinović, Radlović Vladimir, Zorica Rasković, Aleksandra Simović
INTRODUCTION: Hypocalcemic seizures are uncommon in the post-neonatal period. We report an infant with hypocalcemic seizures caused by severe deficiency of vitamin D. CASE OUTLINE: A five-month-old male infant was admitted to hospital in March 2013 with recurrent generalized afebrile seizures resistant to clonazepam therapy. At the clinical examination, the infant showed characteristic rachitic signs, so that after a blood sample was taken for laboratory testing, the infant was given infusion of 2 ml/kg of 10% of calcium gluconate at a rate of 0...
January 2016: Srpski Arhiv za Celokupno Lekarstvo
https://www.readbyqxmd.com/read/27242398/neuropathological-mechanisms-of-seizures-in-autism-spectrum-disorder
#17
REVIEW
Richard E Frye, Manuel F Casanova, S Hossein Fatemi, Timothy D Folsom, Teri J Reutiman, Gregory L Brown, Stephen M Edelson, John C Slattery, James B Adams
This manuscript reviews biological abnormalities shared by autism spectrum disorder (ASD) and epilepsy. Two neuropathological findings are shared by ASD and epilepsy: abnormalities in minicolumn architecture and γ-aminobutyric acid (GABA) neurotransmission. The peripheral neuropil, which is the region that contains the inhibition circuits of the minicolumns, has been found to be decreased in the post-mortem ASD brain. ASD and epilepsy are associated with inhibitory GABA neurotransmission abnormalities including reduced GABAA and GABAB subunit expression...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/26674262/phenytoin-induced-osteopathy-too-common-to-be-neglected
#18
Milind Machhindra Patil, Jayaprakash Sahoo, Sadishkumar Kamalanathan, Vivekanandan Pillai
Anticonvulsants have the broad spectrum of side effects on the bone that are collectively known as osteopathy. Anticonvulsant induced osteopathy can have detrimental consequences. We present an unusual case that uniquely highlights both adverse effects of phenytoin on bone metabolism and side effects of its overtreatment. A 29-year-old lady came for evaluation of metabolic bone disease. Since last one year, she had severe bilateral hip pain resulting in restriction of movements. She was taking phenytoin 300 mg daily for last ten years for a seizure disorder...
November 2015: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/26530206/multiorgan-disorder-syndrome-mods-in-an-octagenarian-suggests-mitochondrial-disorder
#19
Josef Finsterer, Adam Bastovansky
Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure...
September 2015: Revista Médica de Chile
https://www.readbyqxmd.com/read/26310861/long-term-outcome-in-pyridoxine-responsive-infantile-epilepsy
#20
R Riikonen, K Mankinen, E Gaily
BACKGROUND: Dose regimens of pyridoxine (vitamin B6) for treatment of infantile spasms have varied from 200 mg/d to 300 mg/kg/d. Only two long-term outcome studies of the treated patients are available. METHODS: We asked all pediatric neurologists treating pediatric epilepsy in Finland if they had seen patients with pyridoxine-responsive infantile epilepsy. Five children with infantile spasms and hypsarrhythmia and one with focal epilepsy were reported as pyridoxine responders...
November 2015: European Journal of Paediatric Neurology: EJPN
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