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https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#1
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28914199/clinical-applications-of-intravenous-immunoglobulins-in-child-neurology
#2
Maria Gogou, Efimia Papadopoulou-Alataki, Martha Spilioti, Sofia Alataki, Athanasios Evangeliou
BACKGROUND: While there are guidelines for the use of intravenous immunoglobulins in children with Guillain-Barre syndrome and myasthenia gravis based on high-level evidence studies, data is fewer for the majority of neurologic disorders in this age group. Neuronal antibodies are detected in children with seizures of autoimmune etiology. Intravenous immunoglobulins with their broad immunomodulatory mechanism of action could be ideally effective in different forms of immune-dysregulated intractable epilepsies such as autoimmune epilepsy and autoimmune Rasmussen encephalitis...
September 15, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28910681/the-imaging-spectrum-of-posterior-reversible-encephalopathy-syndrome-a-pictorial-review
#3
REVIEW
Emily Brady, Neal S Parikh, Babak B Navi, Ajay Gupta, Andrew D Schweitzer
Posterior reversible encephalopathy syndrome (PRES) is characterized by the acute onset of neurologic symptoms (headache, altered mental status, visual changes, seizures) with accompanying vasogenic edema on brain imaging. Risk factors for PRES include infection, uremia, malignancy, autoimmune disorders, the peripartum state and hypertension. PRES is classically described as being posterior (i.e. parieto-occipital) but radiologic variants are increasingly recognized. This pictorial review demonstrates the heterogeneity of the different radiologic presentations of PRES in reference to lesion distribution, hemorrhage, diffusion restriction, contrast enhancement, and other associated findings...
August 30, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28904921/hashimoto-s-encephalitis-rare-manifestation-of-hypothyroidism
#4
Manish Gutch, Annesh Bhattacharjee, Sukriti Kumar, Durgesh Pushkar
Hashimoto's encephalitis is a rare, heterogeneous and completely treatable form of neuroendocrine disorder manifesting with seizures, stroke-like episodes, encephalopathy, dementia and variable neuropsychiatric manifestations. It is generally associated with a background of Hashimoto's Thyroiditis, and the patient has high titers of antithyroid antibodies, especially antithyroid peroxidase antibodies. This entity responds dramatically to corticosteroids, hence should be always considered and excluded while treating a patient with encephalopathy in the background of a thyroid disease...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28904568/pediatric-autoimmune-encephalitis
#5
REVIEW
Massimo Barbagallo, Giovanna Vitaliti, Piero Pavone, Catia Romano, Riccardo Lubrano, Raffaele Falsaperla
Autoimmune (antibody mediated) encephalitis (AE) is emerging as a more common cause of pediatric encephalopathy than previously thought. The autoimmune process may be triggered by an infection, vaccine, or occult neoplasm. In the latter case, onconeural autoantibodies are directed against intracellular neuronal antigens, but a recent heterogeneous group of encephalitic syndromes has been found not to have underlying tumor but is associated with autoantibodies to the neuronal surface or synaptic antigens. Neuropsychiatric symptoms are very common in autoimmune encephalopathy; as a result, affected children may be initially present to psychiatrists...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28904459/clinical-biochemical-characteristics-and-hospital-outcome-of-acute-intermittent-porphyria-patients-a-descriptive-study-from-north-india
#6
Susheel Kumar, Ashish Bhalla, Navneet Sharma, Deba Prasad Dhibar, Savita Kumari, Subhash Varma
INTRODUCTION: Acute intermittent porphyria (AIP) is an inherited metabolic disease characterized by disordered heme biosynthesis. There is no recent study reported from India. MATERIALS AND METHODS: It was a retrospective, observational study. Clinical records of patients of AIP with acute porphyric attacks admitted from April 2008 to December 2016 were analyzed. RESULTS: Fifteen AIP patients constituted of eight females and seven males were analyzed...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28902172/behavioral-and-neurochemical-consequences-of-pentylenetetrazol-induced-kindling-in-young-and-middle-aged-rats
#7
Alexandre Ademar Hoeller, Cristiane Ribeiro de Carvalho, Pedro Leite Costa Franco, Douglas Affonso Formolo, Alexandre Kracker Imthon, Henrique Rodighero Dos Santos, Ingrid Eidt, Gabriel Roman Souza, Leandra Celso Constantino, Camila Leite Ferreira, Rui Daniel Prediger, Rodrigo Bainy Leal, Roger Walz
(1) Objectives: Epilepsy disorder is likely to increase with aging, leading to an increased incidence of comorbidities and mortality. In spite of that, there is a lack of information regarding this issue and little knowledge of cognitive and emotional responses in aging subjects following epileptogenesis. We investigated whether and how aging distress epilepsy-related behavioral and biochemical outcomes are associated with cognition and emotion. (2) Methods: Young and middle-aged Wistar rats (3 or 12 months old) were treated with pentylenetetrazol (PTZ, 35 mg/kg) and injected on alternated days for 20 (young rats) and 32 days (middle-aged rats)...
September 13, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28901996/intracranial-hemorrhage-in-congenital-bleeding-disorders
#8
Shadi Tabibian, Hoda Motlagh, Majid Naderi, Akbar Dorgalaleh
: Intracranial hemorrhage (ICH), as a life-threatening bleeding among all kinds of congenital bleeding disorders (CBDs), is a rare manifestation except in factor XIII (FXIII) deficiency, which is accompanied by ICH, early in life, in about one-third of patients. Most inherited platelet function disorders (IPFDs) are mild to moderate bleeding disorders that can never experience a severe bleeding as in ICH; however, Glanzmann's thrombasthenia, a common and severe inherited platelet function disorder, can lead to ICH and occasional death...
September 9, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28901011/persistent-aberrant-cortical-phase-amplitude-coupling-following-seizure-treatment-in-absence-epilepsy-models
#9
Atul Maheshwari, Abraham Akbar, Mai Wang, Rachel Marks, Katherine Yu, Suhyeorn Park, Brett L Foster, Jeffrey L Noebels
In childhood absence epilepsy, cortical seizures are brief and intermittent; however there are extended periods without behavioural or electrographic ictal events. This genetic disorder is associated with variable degrees of cognitive dysfunction, but no consistent functional biomarkers that might provide insight into interictal cortical function have been described. Previous work in monogenic mouse models of absence epilepsy have shown that the interictal EEG displays augmented beta/gamma power in homozygous stargazer (stg/stg) mice bearing a presynaptic AMPA receptor defect, but not homozygous tottering (tg/tg) mice with a P/Q type calcium channel mutation...
September 12, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28900300/rogdi-defines-gabaergic-control-of-a-wake-promoting-dopaminergic-pathway-to-sustain-sleep-in-drosophila
#10
Minjong Kim, Donghoon Jang, Eunseok Yoo, Yangkyun Oh, Jun Young Sonn, Jongbin Lee, Yoonhee Ki, Hyo Jin Son, Onyou Hwang, Changwook Lee, Chunghun Lim, Joonho Choe
Kohlschutter-Tönz syndrome (KTS) is a rare genetic disorder with neurological dysfunctions including seizure and intellectual impairment. Mutations at the Rogdi locus have been linked to development of KTS, yet the underlying mechanisms remain elusive. Here we demonstrate that a Drosophila homolog of Rogdi acts as a novel sleep-promoting factor by supporting a specific subset of gamma-aminobutyric acid (GABA) transmission. Rogdi mutant flies displayed insomnia-like behaviors accompanied by sleep fragmentation and delay in sleep initiation...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28898171/febrile-infection-related-epilepsy-syndrome-fires-a-literature-review-and-case-study
#11
Kristy Fox, Mary Ellen Wells, Michael Tennison, Bradley Vaughn
Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic syndrome that strikes previously healthy children aged 3-15 years and has an unknown pathogenesis and few treatments. These children experience a nonspecific febrile illness that is followed by prolonged refractory status epilepticus. Although the etiology is unknown, FIRES has a biphasic presentation, with the acute phase beginning as seizure activity lasting 1-12 weeks, then followed by the chronic phase, which is characterized by refractory seizures that cluster every 2-4 weeks, and may continue to be multifocal and independent...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28895657/identifying-psychogenic-seizures-through-comorbidities-and-medication-history
#12
Wesley T Kerr, Emily A Janio, Chelsea T Braesch, Justine M Le, Jessica M Hori, Akash B Patel, Norma L Gallardo, Janar Bauirjan, Shannon R D'Ambrosio, Andrea M Chau, Eric S Hwang, Emily C Davis, Albert Buchard, David Torres-Barba, Mona Al Banna, Sarah E Barritt, Andrew Y Cho, Jerome Engel, Mark S Cohen, John M Stern
OBJECTIVE: Low-cost evidence-based tools are needed to facilitate the early identification of patients with possible psychogenic nonepileptic seizures (PNES). Prior to accurate diagnosis, patients with PNES do not receive interventions that address the cause of their seizures and therefore incur high medical costs and disability due to an uncontrolled seizure disorder. Both seizures and comorbidities may contribute to this high cost. METHODS: Based on data from 1,365 adult patients with video-electroencephalography-confirmed diagnoses from a single center, we used logistic and Poisson regression to compare the total number of comorbidities, number of medications, and presence of specific comorbidities in five mutually exclusive groups of diagnoses: epileptic seizures (ES) only, PNES only, mixed PNES and ES, physiologic nonepileptic seizurelike events, and inconclusive monitoring...
September 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28894999/needs-of-adolescents-and-young-adults-with-neurodevelopmental-disorders-comparisons-of-young-people-and-parent-perspectives
#13
Hanna Eklund, James Findon, Tim Cadman, Hannah Hayward, Declan Murphy, Philip Asherson, Karen Glaser, Kiriakos Xenitidis
This study used the Camberwell Assessment of Need for adults with Developmental and Intellectual Disabilities (CANDID) to examine the social, physical health and mental health needs of 168 young people (aged 14-24 years) with neurodevelopmental disorders and compared young person and parent ratings of need. Agreement was poor in 21 out of 25 domains. Parents consistently reported higher levels of need than young people in the majority of domains although young people with ADHD reported significantly more needs in physical health, eyesight/hearing, seizures, other mental health problems and safety of others than their parents...
September 11, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28893434/biallelic-mutations-in-szt2-cause-a-discernible-clinical-entity-with-epilepsy-developmental-delay-macrocephaly-and-a-dysmorphic-corpus-callosum
#14
Yuji Nakamura, Yasuko Togawa, Yusuke Okuno, Hideki Muramatsu, Kazuhiko Nakabayashi, Yoko Kuroki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Takao Togawa, Ayako Hattori, Seiji Kojima, Shinji Saitoh
Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum...
September 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28892600/the-suspect-siadh
#15
Kristen Tee, Jerry Dang
BACKGROUND: Hyponatraemia is one of the most commonly encountered electrolyte abnormalities in general practice. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is an important but under-recognised cause. OBJECTIVE: This article explores the presentation, investigation, diagnosis and management of SIADH. DISCUSSION: SIADH can occur secondary to medications, malignancy, pulmonary disease, or any disorder involving the central nervous system...
September 2017: Australian Family Physician
https://www.readbyqxmd.com/read/28892547/non-rapid-eye-movement-arousal-parasomnias-in-children
#16
Vijayabharathi Ekambaram, Kiran Maski
Parasomnia is a common pediatric sleep disorder that can cause parents or caregivers distress when experienced by their children. Based on the International Classification of Sleep Disorders, parasomnias can be divided into two subgroups: non-rapid eye movement (NREM) parasomnias and rapid eye movement (REM) parasomnias. REM sleep parasomnias include nightmares, REM behavior disorder, and sleep paralysis, whereas NREM sleep parasomnias include disorders of arousal such as confusional arousals, sleepwalking, sleep talking, night terrors, and sleep-related eating disorder...
September 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28892148/mtor-mutations-in-smith-kingsmore-syndrome-four-additional-patients-and-a-review
#17
G Gordo, J Tenorio, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, M Palomares, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz Pérez, V Martinez-Glez, P Lapunzina
Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA: 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis...
September 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28891034/rheb1-insufficiency-in-aged-male-mice-is-associated-with-stress-induced-seizures
#18
Qi Tian, Pavel Gromov, Joachim H Clement, Yingming Wang, Marc Riemann, Falk Weih, Xiao-Xin Sun, Mu-Shui Dai, Lev M Fedorov
The mechanistic target of rapamycin (mTOR), a protein kinase, is a central regulator of mammalian metabolism and physiology. Protein mTOR complex 1 (mTORC1) functions as a major sensor for the nutrient, energy, and redox state of a cell and is activated by ras homolog enriched in brain (RHEB1), a GTP-binding protein. Increased activation of mTORC1 pathway has been associated with developmental abnormalities, certain form of epilepsy (tuberous sclerosis), and cancer. Clinically, those mTOR-related disorders are treated with the mTOR inhibitor rapamycin and its rapalogs...
September 10, 2017: GeroScience
https://www.readbyqxmd.com/read/28890399/activated-brain-derived-neurotrophic-factor-trkb-signaling-in-rat-dorsal-and-ventral-hippocampi-following-10-day-electroconvulsive-seizure-treatment
#19
Shingo Enomoto, Kunio Shimizu, Masashi Nibuya, Eiji Suzuki, Kiyoshi Nagata, Takashi Kondo
Electroconvulsive therapy (ECT) is still the most effective strategy to treat severe and drug-resistant depressive disorders. Electroconvulsive seizure (ECS), which induces neuroplastic structural alterations and resilient behavioral changes in experimental animals, is the model of the ECT for human depression. ECT is typically administered three times per week for up to 4 weeks, while ECS treatments are administered daily for 10days. The increased expression of hippocampal brain-derived neurotrophic factor (BDNF) induced by antidepressive ECS treatment in experimental animals has been well documented...
September 7, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28889139/bohring-opitz-syndrome-a-case-of-a-rare-genetic-disorder
#20
N Visayaragawan, N Selvarajah, H Apparau, V Kamaru Ambu
The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included microcephaly, hemangioma, low set ears, cleft palate, micrognatia and the typical BOS posture. Chromosomal analysis showed 46 xx -Bohring-Opitz Syndrome overlapped with C- syndrome. Goal-directed holistic care with integration of parent/carer training was started very early...
August 2017: Medical Journal of Malaysia
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