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https://www.readbyqxmd.com/read/27922249/severe-hyperphosphatemia-after-oral-laxative-administration-in-a-7-year-old-patient
#1
Çağlar Ödek, Tanıl Kendirli, Ayhan Yaman, Eda Didem Kurt-Şükür, Onur Telli, Berk Burgu, Z Birsin Özçakar
Sodium phosphate based laxatives are commonly used for constipation and pre-procedural bowel cleansing. Phosphate intoxication related with these preparations is well recognized. Herein, we present a case of severe hyperphosphatemia and seizure in a 7-year-old male patient after administration of an oral sodium phosphate based laxative. At the time of admission, serum phosphorus level was 25.6 mg/dl. Aggressive fluid therapy was started. Although serum phosphorus level decreased to 20.9 mg/dl eight hours after admission, hemodialysis was performed because of the preexisting renal disease and declined glomerular filtration rate...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#2
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27920935/cerebral-foreign-body-granuloma-in-brain-triggering-generalized-seizures-without-obvious-craniocerebral-injury-a-case-report-and-review-of-the-literature
#3
Nina Brawanski, Peter Baumgarten, Jürgen Konczalla, Volker Seifert, Christian Senft
BACKGROUND: Intracerebral foreign body granuloma is rarely reported. We present the case of a male patient with a cerebral foreign body granuloma. CASE DESCRIPTION: Initial admission of a 67-year-old male patient was after an aphasia followed by secondary generalized seizures. Cranial computed tomography (CCT) showed a metal-dense, wedge-shaped foreign body in the range of the frontal sinus on the left side, breaking through the frontal sinus, and creating a connection to the frontal cerebral lobe...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27920872/anterior-and-posterior-suprasellar-extensions-of-a-symmetrical-trilobed-nonfunctional-giant-pituitary-adenoma-in-the-sagittal-plane-a-case-report-and-review-of-literature
#4
Rushabh M Vakharia, Roman Kremen, Ajit Vakharia, Obed Adarkwah, Gordon Anderson
INTRODUCTION: To the best of our knowledge, the presence of a trilobed nonfunctional giant pituitary adenoma has never been described before in the literature. These tumors present unique diagnostic and therapeutic challenges. Tumors of this etiology can be managed with pharmacologic treatment or aggressive surgical intervention. The following case illustrates an unique visual presentation of a giant pituitary adenoma. CASE PRESENTATION: We report the case of a 40-year-old Hispanic man who presented with new onset seizures...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920636/identifying-cnvs-in-15q11q13-and-16p11-2-of-patients-with-seizures-increases-the-rates-of-detecting-pathogenic-changes
#5
Gabrielle S Vianna, Mariana L Freitas, Valdirene T de Oliveira, Rafaella X Pietra, Michele da S Gonçalves, Patrícia P O Rocha, Rejane A C Monteiro, Luana C A Ferreira, Rosana R Xavier, Andréia M Carvalho, Patrícia R de M Lima, Maria Augusta N P Monteiro, Elvis C Mateo, Juliana G Giannetti, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Fernanda S Jehee
Chromosomal changes are frequently observed in patients with syndromic seizures. Understanding the genetic etiology of this pathology is crucial for the guidance and genetic counseling of families as well as for the establishment of appropriate treatment. A combination of MLPA kits was used to identify pathogenic CNVs in a group of 70 syndromic patients with seizures. Initially, a screening was performed for subtelomeric changes (MLPA P036 and P070 kits) and for the regions most frequently related to microdeletion/microduplication syndromes (MLPA P064)...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920535/prevalence-of-alcohol-use-disorders-and-associated-factors-among-people-with-epilepsy-attending-amanuel-mental-specialized-hospital-addis-ababa-ethiopia
#6
Tsegereda Waja, Jemal Ebrahim, Zegeye Yohannis, Asres Bedaso
INTRODUCTION: Alcohol use disorders represent one of the leading causes of preventable death, illness, and injury in many societies throughout the world. Heavy alcohol consumption has multiple negative consequences for people with epilepsy such as precipitation of seizure, exacerbation of seizure, poor seizure control, increased side effects of antiepileptic drugs, noncompliance to antiepileptic drugs, alcohol withdrawal seizures, long-term hospital admission, status epilepticus, sudden unexpected death, and premature mortality...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27920283/what-can-we-do-for-people-with-drug-resistant-epilepsy-the-2016-wartenberg-lecture
#7
Jerome Engel
Treatment goals for epilepsy are no seizures, no side effects, as soon as possible, but these goals are too often unmet. Approximately 1 million people in the United States continue to have seizures despite adequate treatment with antiseizure drugs, representing 40% of those with epilepsy, and 80% of the cost of epilepsy. Drug-resistant epilepsy (DRE) can be associated with developmental delay in infants and young children, and severe disability and morbidity in older children and adults, as well as a mortality rate 5-10 times that of the general population...
December 6, 2016: Neurology
https://www.readbyqxmd.com/read/27920205/molecular-determinants-of-the-sensitivity-to-gq-11-phospholipase-c-dependent-gating-gd3-potentiation-and-ca2-permeability-in-the-transient-receptor-potential-canonical-type-5-trpc5-channel
#8
Xingjuan Chen, Wennan Li, Ashley M Riley, Mario Soliman, Saikat Chakraborty, Christopher W Stamatkin, Alexander G Obukhov
Transient Receptor Potential Canonical type 5 (TRPC5) is a Ca(2+) permeable cation channel that is highly expressed in the brain and is implicated in motor coordination, innate fear behavior, and seizure-genesis. The channel is activated by a signal downstream of the G-protein-coupled receptor (GPCR)-Gq/11-phospholipase C (PLC) pathway. In this study, we aimed to identify the molecular mechanisms involved in regulating TRPC5 activity. We report that R593, a residue located in the E4 loop near the TRPC5's extracellular Gd(3+)-binding site, is critical for conferring the sensitivity to GPCR-Gq/11-PLC-dependent gating on TRPC5...
December 5, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27920126/postnatal-activation-of-tlr4-in-astrocytes-promotes-excitatory-synaptogenesis-in-hippocampal-neurons
#9
Yi Shen, Huaping Qin, Juan Chen, Lingyan Mou, Yang He, Yixiu Yan, Hang Zhou, Ya Lv, Zhong Chen, Junlu Wang, Yu-Dong Zhou
Astrocytes are critical in synapse development, and their dysfunction in crucial developmental stages leads to serious neurodevelopmental diseases, including seizures and epilepsy. Immune challenges not only affect brain development, but also promote seizure generation and epileptogenesis, implying immune activation is one of the key factors linking seizures and epilepsy to abnormal brain development. In this study, we report that activating astrocytes by systemic lipopolysaccharide (LPS) challenges in the second postnatal week promotes excitatory synapse development, leading to enhanced seizure susceptibility in mice...
December 5, 2016: Journal of Cell Biology
https://www.readbyqxmd.com/read/27920021/venous-and-arterial-air-embolism-a-rare-phenomenon-with-fatal-consequences
#10
Jatan Shah, Nasheena Jiwa, Natasha Mamdani, David Hill
Air embolism is often an iatrogenic complication which may occur in venous or arterial circulation depending on the port of entry. We present two cases in which air embolism occurred in venous and arterial circulation after contrast medium injection (CMI) and coronary artery bypass graft (CABG) surgery, respectively. In one case, accumulation of air bubbles was observed in the pulmonary artery after CMI. This was attributed to inadvertent injection of air owing to improper connection of the injector and the catheter...
December 5, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27919842/propagation-of-seizures-in-a-case-of-lesional-mid-cingulate-gyrus-epilepsy-studied-by-stereo-eeg
#11
Rafeed Alkawadri, Jorge Gonzalez-Martinez, Nicolas Gaspard, Andreas V Alexopoulos
Little is known about the propagation of seizures arising from the cingulate gyrus, as cingulate coverage with interhemispheric subdural electrodes is usually challenging and incomplete due to inherent anatomical and vascular limitations. We present a case of lesional mid-cingulate epilepsy confirmed by stereotactically implanted intracranial depth electrodes and subsequent surgical resection. Hypermotor symptomatology was seen during the first seven seconds of seizure onset while the seizure was still confined to the mid-cingulate gyrus contacts...
December 5, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27919590/rebuttal-to-the-manuscript-by-r-j-porter-epires-d-16-00150
#12
D G A Kasteleijn-Nolst Trenité
Development of new effective medicines for patients, who continue to have seizures or experience unwanted side-effects, is an important goal. The human "Photosensitivity Model", a POC study, helps to achieve this goal by providing accurate PharmacoKinetic / PharmcoDynamic (PK/PD) data in epilepsy patients at a very early stage and in a highly controlled, standardized and safe setting (in- hospital video-EEG photic stimulation tests and single-dose AED administration). All information referred to in this rebuttal is based on evidence and not on personal communication...
November 27, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27919500/favorable-outcome-of-interferon-beta-associated-thrombotic-microangiopathy-following-treatment-with-corticosteroids-plasma-exchange-and-rituximab-a-case-report
#13
Lea M Gerischer, Eberhard Siebert, Oliver Janke, Gerhard Jan Jungehuelsing, Klemens Ruprecht
Thrombotic microangiopathy (TMA) is a rare but increasingly recognized complication of interferon-beta therapy, which can be associated with serious sequelae. We report on a 53-year-old woman with a longstanding history of relapsing-remitting multiple sclerosis, who developed TMA after 15 years of high-dose treatment with subcutaneous interferon-beta-1a. The patient presented with headaches, an epileptic seizure, confusion, and arterial hypertension. Laboratory findings included thrombocytopenia and hemolytic anemia...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27919294/heantos-4-a-natural-plant-extract-used-in-the-treatment-of-drug-addiction-modulates-t-type-calcium-channels-and-thalamocortical-burst-firing
#14
Stuart M Cain, Soyon Ahn, Esperanza Garcia, Yiming Zhang, Zeina Waheed, John R Tyson, Yi Yang, Tran Van Sung, Anthony G Phillips, Terrance P Snutch
Heantos-4 is a refined combination of plant extracts currently approved to treat opiate addiction in Vietnam. In addition to its beneficial effects on withdrawal and prevention of relapse, reports of sedation during clinical treatment suggest that arousal networks in the brain may be recruited during Heantos administration. T-type calcium channels are implicated in the generation of sleep rhythms and in this study we examined whether a Heantos-4 extraction modulates T-type calcium channel currents generated by the Cav3...
December 5, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27919270/delayed-hyperbaric-oxygen-therapy-for-air-emboli-after-open-heart-surgery-case-report-and-review-of-a-success-story
#15
Eva Niyibizi, Guillaume Elyes Kembi, Claude Lae, Rodrigue Pignel, Tornike Sologashvili
BACKGROUND: The current case describes a rare diagnosis of iatrogenic air emboli after elective cardiopulmonary bypass that was successfully treated with delayed hyperbaric oxygen therapy, with good clinical evolution in spite of rare complications. CASE PRESENTATION: A 35 years old male was admitted to the intensive care unit (ICU) for post-operative management after being placed on cardiopulmonary bypass (CPB) for an elective ventricular septal defect closure and aortic valvuloplasty...
December 5, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27919115/febrile-infection-related-epilepsy-syndrome-clinical-review-and-hypotheses-of-epileptogenesis
#16
Andreas van Baalen, Annamaria Vezzani, Martin Häusler, Gerhard Kluger
Febrile infection-related epilepsy syndrome (FIRES, AERRPS, or DESC) is one of the most severe, mostly irreversible, and presumably immune-mediated epileptic encephalopathies affecting healthy children. Refractory status epilepticus or a cluster of seizures start a few days after the onset of an acute febrile illness; however, encephalitis cannot be proved. Sequelae of FIRES are drug-resistant epilepsy and neuropsychological impairments occurring without latency. Clinical knowledge is limited because FIRES is sporadic and extremely rare...
December 5, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27918961/the-promise-of-subtraction-ictal-spect-co-registered-to-mri-for-improved-seizure-localization-in-pediatric-epilepsies-affecting-factors-and-relationship-to-the-surgical-outcome
#17
Catherine Stamoulis, Nishant Verma, Himanshu Kaulas, Jonathan J Halford, Frank H Duffy, Phillip L Pearl, S Ted Treves
OBJECTIVE: Ictal SPECT is promising for accurate non-invasive localization of the epileptogenic brain tissue in focal epilepsies. However, high quality ictal scans require meticulous attention to the seizure onset. In a relatively large cohort of pediatric patients, this study investigated the impact of the timing of radiotracer injection, MRI findings and seizure characteristics on ictal SPECT localizations, and the relationship between concordance of ictal SPECT, scalp EEG and resected area with seizure freedom following epilepsy surgery...
November 30, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27918346/electrical-stimulation-for-seizure-induction-and-functional-mapping-in-stereoelectroencephalography
#18
Agnès Trébuchon, Patrick Chauvel
The challenge in epilepsy surgery is to remove the epileptogenic zone without compromising postoperative function. Electrical stimulation (ES) was developed to identify with greater anatomical and physiological precision cortical structures essential to language and motor function. Because the language network is widely distributed in the left (dominant) hemisphere, and often varies among patients, brain mapping should delineate eloquent areas at the individual level. Although ES for language is commonly performed during a presurgical investigation, the procedure remains nonstandardized among centers, and differences between grids and intracerebral depth electrodes (stereoelectroencephalography) should be taken into account when comparing results from different series...
December 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27918326/anesthetic-considerations-for-patients-with-congenital-central-hypoventilation-syndrome-a-systematic-review-of-the-literature
#19
Saptashree M Basu, Frances F Chung, Shireen F AbdelHakim, Jean Wong
Congenital central hypoventilation syndrome (CCHS) is a form of sleep-disordered breathing characterized by a diminished drive to breathe during sleep, despite progressive hypercapnia and hypoxia. The condition results from mutations in the paired-like homeobox 2B (PHOX2B) gene. The aim of this review was to conduct a systematic search of the current data on CCHS as it relates to perioperative considerations and to discuss the classification, prevalence, pathophysiology, presentation, genetics, and management of the condition...
December 1, 2016: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27917853/treatment-of-posttraumatic-epilepsy-with-new-generation-antiepileptic-drugs-aeds-our-experience
#20
Lidija Šapina, Marija Ratković
Aim To investigate influence of therapy with new generation antiepileptic drugs (AEDs) in fastening of posttraumatic epilepsy (PTE) remission comparing to therapy with standard AEDs, as well as the time to remission in the presence of psychiatric comorbidities. Methods The study was conducted during the 1988-2008 period and included 113 patients (47 females and 67 males) with PTE and 113 patients (93 females and 20 males) suffering from complex partial seizures (CPS) of temporal lobe origin. In both patient groups, epileptic seizure phenotype, brain magnetic resonance imaging (1...
February 1, 2017: Medicinski Glasnik
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