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https://www.readbyqxmd.com/read/28229097/pediatric-hypovitaminosis-d-molecular-perspectives-and-clinical-implications
#1
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/28222319/survey-of-the-diagnostic-and-therapeutic-approach-to-new-onset-refractory-status-epilepticus
#2
Christian M Cabrera Kang, Nicolas Gaspard, Suzette M LaRoche, Brandon Foreman
PURPOSE: We conducted a survey of providers to assess for practice patterns in diagnosing and treating new-onset refractory status epilepticus (NORSE). NORSE is the occurrence of prolonged seizures that are not responsive to initial therapies in otherwise healthy individuals without obvious cause on initial presentation. This entity is thought to have multiple etiologies, including autoimmune. METHOD: A 29-question electronic survey was sent to providers included in the Neurocritical Care Society emailing list...
February 9, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28220082/synaptic-and-neuronal-autoantibody-associated-psychiatric-syndromes-controversies-and-hypotheses
#3
Adam Al-Diwani, Thomas A Pollak, Alexander E Langford, Belinda R Lennox
Autoimmune encephalitis (AE) mediated by antibodies against synaptic and neuronal surface targets frequently presents with a psychiatric syndrome. In these patients, removal of autoantibodies treats the disease and outcomes are closely linked to early intervention. The discovery of these autoantibodies in isolated psychiatric syndromes has raised the possibility that these patients may derive similar benefits from immunotherapy, a potentially transformational approach to the treatment of mental illness. Although open-label case series suggest impressive therapeutic outcomes, the pathological relevance of these autoantibodies outside of canonical presentations is debated...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28203468/nonconvulsive-status-epilepticus-resembling-clinical-absence-with-atypical-eeg-pattern
#4
Channaiah Srikanth Mysore, Najib Murr, Rana Zabad, John Bertoni
Objective. We are reporting two cases: a patient with steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) and another patient with secondary progressive multiple sclerosis (SPMS), both presenting with altered mental status (AMS) and later diagnosed with nonconvulsive atypical absence status epilepticus (AS), with atypical EEG changes. Methods. A report of two cases. Results. A patient with history of SREAT and the other with SPMS had multiple admissions due to AMS. For both, EEG revealed the presence of a high voltage generalized sharply contoured theta activity...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28183838/autoimmune-encephalitis-pathophysiology-and-imaging-review-of-an-overlooked-diagnosis
#5
REVIEW
B P Kelley, S C Patel, H L Marin, J J Corrigan, P D Mitsias, B Griffith
Autoimmune encephalitis is a relatively new category of immune-mediated disease involving the central nervous system that demonstrates a widely variable spectrum of clinical presentations, ranging from the relatively mild or insidious onset of cognitive impairment to more complex forms of encephalopathy with refractory seizure. Due to its diverse clinical features, which can mimic a variety of other pathologic processes, autoimmune encephalitis presents a diagnostic challenge to clinicians. Imaging findings in patients with these disorders can also be quite variable, but recognizing characteristic findings within limbic structures suggestive of autoimmune encephalitis can be a key step in alerting clinicians to the potential diagnosis and ensuring a prompt and appropriate clinical work-up...
February 9, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28166327/neurological-autoantibody-prevalence-in-epilepsy-of-unknown-etiology
#6
Divyanshu Dubey, Abdulradha Alqallaf, Ryan Hays, Matthew Freeman, Kevin Chen, Kan Ding, Mark Agostini, Steven Vernino
Importance: Autoimmune epilepsy is an underrecognized condition, and its true incidence is unknown. Identifying patients with an underlying autoimmune origin is critical because these patients' condition may remain refractory to conventional antiseizure medications but may respond to immunotherapy. Objective: To determine the prevalence of neurological autoantibodies (Abs) among adult patients with epilepsy of unknown etiology. Design, Setting, and Participants: Consecutive patients presenting to neurology services with new-onset epilepsy or established epilepsy of unknown etiology were identified...
February 6, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28144796/clinical-predictors-and-differential-diagnosis-of-posterior-reversible-encephalopathy-syndrome
#7
Laetitia Della Faille, S Fieuws, W Van Paesschen
The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914-925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or other focal neurological signs that appear in the clinical setting of risk factors such as hypertension/blood pressure fluctuations, chemotherapy, renal failure, autoimmune disorders, or eclampsia, in whom imaging of the brain was performed to exclude PRES...
January 31, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28109991/clinical-characteristics-treatments-and-outcomes-of-patients-with-anti-n-methyl-d-aspartate-receptor-encephalitis-a-systematic-review-of-reported-cases
#8
REVIEW
Le Zhang, Meng-Qian Wu, Zi-Long Hao, Siew Mun Vance Chiang, Kun Shuang, Min-Tao Lin, Xiao-Sa Chi, Jia-Jia Fang, Dong Zhou, Jin-Mei Li
Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis is a recently recognized autoimmune disorder which is responsive to immunotherapy. However, the outcomes of different immunotherapies have not been defined and there have been few studies that carried out a comparison among them. To provide an overview of the clinical characteristics, treatments, and outcomes of anti-NMDAR encephalitis, we systematically reviewed the literature in the PubMed, Medline, Embase, Cochrane Library, BioMedical Literature Database (CBM), China National Knowledge Infrastructure (CNKI), and Wan-fang databases...
January 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28105459/mog-antibody-positive-benign-unilateral-cerebral-cortical-encephalitis-with-epilepsy
#9
Ryo Ogawa, Ichiro Nakashima, Toshiyuki Takahashi, Kimihiko Kaneko, Tetsuya Akaishi, Yoshiki Takai, Douglas Kazutoshi Sato, Shuhei Nishiyama, Tatsuro Misu, Hiroshi Kuroda, Masashi Aoki, Kazuo Fujihara
OBJECTIVE: To describe the features of adult patients with benign, unilateral cerebral cortical encephalitis positive for the myelin oligodendrocyte glycoprotein (MOG) antibody. METHODS: In this retrospective, cross-sectional study, after we encountered an index case of MOG antibody-positive unilateral cortical encephalitis with epileptic seizure, we tested for MOG antibody using our in-house, cell-based assay in a cohort of 24 consecutive adult patients with steroid-responsive encephalitis of unknown etiology seen at Tohoku University Hospital (2008-2014)...
March 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28101474/the-laboratory-diagnosis-of-autoimmune-encephalitis
#10
REVIEW
Sang Kun Lee, Soon-Tae Lee
Autoimmune encephalitis is a group of encephalitis syndromes that cause altered mentality, memory decline, or seizures in association with the presence of serum and cerebrospinal fluid (CSF) autoantibodies (auto-Abs). An early diagnosis enables early treatments. The detection of auto-Abs is a confirmatory diagnosis. Tissue-based assay, cell-based immunoassay, and immunoblotting are used to detect various autoantibodies. The CSF test for the presence of antibodies is important because it is more sensitive and reflects disease activity in many autoimmune encephalitis, although antibody tests can be negative even in the presence of autoimmune encephalitis...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#11
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28068943/a-case-of-gabar-antibodies-in-schizophrenia
#12
Ida S Haussleiter, Klaus-Peter Wandinger, Georg Juckel
BACKGROUND: In the last couple of years, schizophrenia was often discussed as autoimmune disease. Several antibodies were suspected, but so far there has been no proof of Gamma-aminobutyric acid (GABA) receptor antibodies in patients with schizophrenia. CASE PRESENTATION: In this case report we present a 21-year old woman with schizophrenic symptoms, who showed anti-GABAB1 antibodies when screened by a vast recombinant neurology mosaic on Human Embryonic Kidney Cells 293 (HEK293) cells...
January 10, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28057897/review-and-update-of-the-hong-kong-epilepsy-guideline-on-status-epilepticus
#13
REVIEW
E Lw Fung, B Bh Fung
Convulsive status epilepticus is the most extreme form of seizure. It is a medical and neurological emergency that requires prompt and appropriate treatment. Treatment of convulsive status epilepticus is usually divided into stages/steps. The International League Against Epilepsy has released a new definition of status epilepticus that may help to unify the definition in future studies. Over the last few years new information has become available regarding its management. The Rapid Anticonvulsant Medication Prior to Arrival Trial demonstrated non-inferiority of intramuscular midazolam in early status epilepticus compared with intravenous lorazepam...
January 6, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28054130/posterior-reversible-encephalopathy-syndrome
#14
REVIEW
Marlene Fischer, Erich Schmutzhard
The posterior reversible encephalopathy syndrome (PRES) is a neurological disorder of (sub)acute onset characterized by varied neurological symptoms, which may include headache, impaired visual acuity or visual field deficits, disorders of consciousness, confusion, seizures, and focal neurological deficits. In a majority of patients the clinical presentation includes elevated arterial blood pressure up to hypertensive emergencies. Neuroimaging, in particular magnetic resonance imaging, frequently shows a distinctive parieto-occipital pattern with a symmetric distribution of changes reflecting vasogenic edema...
January 4, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28043058/epilepsy-surgery-in-drug-resistant-temporal-lobe-epilepsy-associated-with-neuronal-antibodies
#15
Mar Carreño, Christian G Bien, Ali A Asadi-Pooya, Michael Sperling, Petr Marusic, Martin Elisak, Jose Pimentel, Tim Wehner, Rajiv Mohanraj, Juan Uranga, Asier Gómez-Ibáñez, Vicente Villanueva, Francisco Gil, Antonio Donaire, Nuria Bargalló, Jordi Rumià, Pedro Roldán, Xavier Setoain, Luis Pintor, Teresa Boget, Eva Bailles, Mercè Falip, Javier Aparicio, Josep Dalmau, Francesc Graus
We assessed the outcome of patients with drug resistant epilepsy and neuronal antibodies who underwent epilepsy surgery. Retrospective study, information collected with a questionnaire sent to epilepsy surgery centers. Thirteen patients identified, with antibodies to GAD (8), Ma2 (2), Hu (1), LGI1 (1) or CASPR2 (1). Mean age at seizure onset: 23 years. Five patients had an encephalitic phase. Three had testicular tumors and five had autoimmune diseases. All had drug resistant temporal lobe epilepsy (median: 20 seizures/month)...
January 2017: Epilepsy Research
https://www.readbyqxmd.com/read/27980287/a-case-of-neurosyphilis-presenting-with-limbic-encephalitis
#16
Kazuto Tsukita, Akihiro Shimotake, Mitsuyoshi Nakatani, Yukitoshi Takahashi, Akio Ikeda, Ryosuke Takahashi
A 46-year-old man presented with a history of personality change and memory disturbance for 5 months. He gradually became difficult in doing a daily job. Brain MRI showed abnormal hyperintensity within bilateral mesial temporal lobes on T2 weighted image. Therefore, viral and autoimmune limbic encephalitis was initially suspected. However, because treponemal and non-treponemal specific antibodies were positive in serum and cerebrospinal fluid (CSF), the diagnosis of neurosyphilis was made. Patients of neurosyphilis with mesiotemporal T2 weighted hyperintensity reportedly showed common features such as relatively young age, HIV-negative, subacute cognitive impairment and seizure, as seen in our patient...
December 16, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27942471/mixed-vascular-nevus-syndrome-a-report-of-four-new-cases-and-a-literature-review
#17
Martino Ruggieri, Agata Polizzi, Serena Strano, Carmelo Schepis, Massimiliano Morano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Vito Sofia, Emanuele David, Vincenzo Salpietro, Kshitij Mankad, Pietro Milone
BACKGROUND: Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e., crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels and homolateral hypertrophy of the skull and sinuses (hyperpneumatisation) with contralateral hemispheric hypertrophy); or (II) paired vascular twin nevi and brain malformations of the Dyke-Davidoff-Masson type in association with systemic abnormalities consisting in facial asymmetry, skeletal anomalies (i...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27919115/febrile-infection-related-epilepsy-syndrome-clinical-review-and-hypotheses-of-epileptogenesis
#18
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...
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27917700/posterior-reversible-encephalopathy-syndrome-following-elevated-mean-arterial-pressures-for-cervical-spinal-cord-injury
#19
Jeffrey H Zimering, Addisu Mesfin
BACKGROUND: Increasing the mean arterial pressure (MAP) is an accepted treatment modality to minimize the risk for irreversible neurologic damage secondary to spinal cord ischemia. Posterior reversible encephalopathy syndrome (PRES) is a rare complication occurring after transplantation surgery, in persons having an autoimmune disorder or after abrupt increases in blood pressure of various etiologies. STUDY DESIGN: Case report. METHODS: Retrospective evaluation of medical records...
December 5, 2016: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/27893674/relapsing-remitting-lesions-in-a-woman-with-progressive-hemifacial-atrophy-and-chronic-hepatitis-b-virus-infection-a-case-report
#20
Ying Zhang, Mingqin Zhu, Xiaozhen Li, Jing Miao, Chenchen Duan, Li Cui, Xuefan Yu
INTRODUCTION: Progressive hemifacial atrophy (PHA) is a rare disorder characterized by unilateral facial atrophy affecting the skin, subcutaneous tissue, and fat, muscle, and osteocartilagenous structures creating a sunken hemiface appearance.Etiopathogenesis of PHA is poorly understood; no definitive treatment is currently available. CLINICAL FINDINGS: We report a 41-year-old woman with PHA who showed an uncharacteristic "relapsing-remitting" evolution of brain lesions and was seropositive for hepatitis B virus (HBV)...
November 2016: Medicine (Baltimore)
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