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seizure and vitamin d deficiency

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https://www.readbyqxmd.com/read/29061647/pyridoxine-dependent-epilepsy-in-zebrafish-caused-by-aldh7a1-deficiency
#1
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 dpf)...
October 23, 2017: Genetics
https://www.readbyqxmd.com/read/28857845/epilepsy-and-osteoporosis-risk
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/26220571/vitamin-d-in-epilepsy-vitamin-d-levels-in-epilepsy-patients-patients-on-antiepileptic-drug-polytherapy-and-drug-resistant-epilepsy-sufferers
#15
COMPARATIVE STUDY
S Nagarjunakonda, S Amalakanti, V Uppala, L Rajanala, S Athina
The objective of this study was to assess vitamin D levels in epileptic patients and to compare its serum levels in patients on antiepileptic monotherapy and polytherapy. We analyzed the serum 25-hydroxy (25-OH) vitamin D levels in 98 consecutive subjects (43 epileptic patients and 55 non-epileptics). Factors influencing its serum levels such as degree of sun exposure, physical activity and dietary intake were taken into consideration. Overall, 41% had deficient, 49% had insufficient and 9% had sufficient levels of serum vitamin D...
January 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/26219156/antiepileptic-drugs-and-bone-health-in-thai-children-with-epilepsy
#16
Sudathip Paticheep, Chanisa Chotipanich, Khanittha Khusiwilai, Anuttara Wichaporn, Subsai Khongsaengdao
UNLABELLED: Background: Epilepsy is the most common neurological disease in children. The patient must take antiepileptic drug for controlling the seizure at least 2 years. Many previous studies show the effect of antiepileptic drug to vitamin D status and bone health. OBJECTIVE: To study the prevalence of vitamin D deficiency and bone mineral density in the children who are taking antiepileptic drug at least 6 months. MATERIAL AND METHOD: Thirty epileptic children who are 3-18 years old with taking antiepileptic drug at least 6 months and 30 healthy children in the same age were performed to investigate serum 25-hydroxyvitamin D, calcium, phosphorus, magnesium, creatinine, alkaline phosphatase, albumin, parathyroid hormone, spot urine calcium, spot urine phosphorus, spot urine creatinine and bone mineral density between October 2012 to September 2013...
June 2015: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
https://www.readbyqxmd.com/read/26051298/complications-of-vitamin-d-deficiency-from-the-foetus-to-the-infant-one-cause-one-prevention-but-who-s-responsibility
#17
REVIEW
Wolfgang Högler
Calcium and phosphorus represent building material for bones. The supplier of these bone minerals is the hormone calcitriol, which originates from vitamin D, itself made by sunshine in human skin. Requirement for bone minerals is highest during phases of rapid growth, and no one grows faster than the foetus and the infant, making them particularly vulnerable. Deprivation of calcium, whether through low calcium intake or low vitamin D, leads to serious health consequences throughout life, such as hypocalcaemic seizures, dilated cardiomyopathy, skeletal myopathy, congenital and infantile rickets, and osteomalacia...
June 2015: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/25950689/vitamin-d-supplementation-we-must-not-fail-our-children
#18
Rosalyn Drury, Andreas Rehm, Simran Johal, Robert Nadler
There is increasing concern that vitamin D deficiency poses a major health problem for children. Deficiency can cause hypocalcemic seizures, growth disturbances, and rickets and may influence diabetes, cardiovascular dysfunction, autoimmune diseases, and attention deficit hyperactivity disorders. Reduced vitamin D levels in children presenting to pediatric orthopedic services are common.In the United Kingdom, recommendations on vitamin D supplementation are set by the Department of Health (DoH) and the National Institute of Health and Clinical Excellence...
May 2015: Medicine (Baltimore)
https://www.readbyqxmd.com/read/25667885/progressive-myoclonic-epilepsy-type-1-report-of-an-emirati-family-and-literature-review
#19
Mohammed Saadah, Mahfoud El Beshari, Loai Saadah, Hisham Hamdallah, Zeinab Alloub, Amani Ali Al Zaabi, Abdelmatlob Ben-Mussa, Anwaar Ben-Nour
PURPOSE: Progressive myoclonic epilepsy type one is a neurodegenerative disorder characterized by action- and stimulus-sensitive myoclonus, tonic-clonic seizures, progressive cerebellar ataxia, preserved cognition, and poor outcome. The authors report clinical, neurophysiological, radiological, and genetic findings of an Emirati family with five affected siblings and review the literature. METHODS: All data concerning familial and clinical history, neurologic examination, laboratory tests, electroencephalogram, brain imaging, and DNA analysis were examined...
2014: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/25492388/longitudinal-change-of-vitamin-d-status-in-children-with-epilepsy-on-antiepileptic-drugs-prevalence-and-risk-factors
#20
Yun-Jin Lee, Kyung Mi Park, Young Mi Kim, Gyu Min Yeon, Sang Ook Nam
BACKGROUND: Our aim was to evaluate the prevalence and risk factors of vitamin D deficiency and the changes of vitamin D level among children with epilepsy on antiepileptic drugs. METHODS: The levels of serum 25-hydroxy vitamin D were measured at the start of antiepileptic drugs and at 6- to 12-month intervals in children with epilepsy taking antiepileptic drugs in Pusan National University Children's Hospital. Vitamin D deficiency was defined as 25-hydroxy vitamin D levels <20 ng/mL and insufficiency between 21 and 29 ng/mL...
February 2015: Pediatric Neurology
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