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Athanasios Papathanasiou, Ioannis Markakis
Guillain-Barré syndrome (GBS) is mainly classified into acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). Although diagnosis of GBS requires progressive weakness and universal areflexia or hyporeflexia, cases of GBS with preserved or increased deep tendon reflexes (DTRs) have been increasingly recognized. We report three cases of GBS, presenting at a single unit in six months. Our first case presented with pure sensory symptoms. The second case had nonspecific generalized weakness, while the third presented with typical ascending weakness...
2016: Case Reports in Emergency Medicine
Wioletta Pijacka, Fiona McBryde, Anthony P Ford, Julian F R Paton
OBJECTIVE: Arterial hypertension is associated with increases in both peripheral chemoreceptor reflex sensitivity and sympathetic nerve activity (SNA). We have shown that CB resection in SH rats reduces arterial pressure (AP; McBryde et al. 2013). Since P2X3 receptors exist in the rat CB and P2X3 receptor activity is associated with afferent hyperreflexia (Ford et al. 2015), we hypothesized that P2X3 receptor would be upregulated in the CB of SH vs normotensive (Wistar) control rats and that a selective P2X3 receptor antagonist (AF-219) would reduce chemoreflex hypersensitivity, AP and SNA in SH rats...
September 2016: Journal of Hypertension
Wioletta Pijacka, Fiona McBryde, Anthony P Ford, Julian F R Paton
OBJECTIVE: Arterial hypertension is associated with increases in both peripheral chemoreceptor reflex sensitivity and sympathetic nerve activity (SNA). We have shown that CB resection in SH rats reduces arterial pressure (AP; McBryde et al. 2013). Since P2X3 receptors exist in the rat CB and P2X3 receptor activity is associated with afferent hyperreflexia (Ford et al. 2015), we hypothesized that P2X3 receptor would be upregulated in the CB of SH vs normotensive (Wistar) control rats and that a selective P2X3 receptor antagonist (AF-219) would reduce chemoreflex hypersensitivity, AP and SNA in SH rats...
September 2016: Journal of Hypertension
Awder A Khazendar, Hemin M Hama Ameen, Nzar I Jabbar, Seerwan O Hasan, Talar S Ahmed, Alaa A Ali
BACKGROUND: Intradural extramedullary spinal teratoma (IEST) is a rare condition in adult patients with male predominance. It is commonly associated with spinal dysraphism, lumbar puncture and prior spinal surgeries. The study presents a 37-year-old male diagnosed with upper lumbar intradural extramedullary mature cystic teratoma without dysraphism or prior surgical interventions. CASE DESCRIPTION: Patient's symptoms included a lumbar backache which progressed to the toes, as well as the anterior region of both the thighs...
September 15, 2016: World Neurosurgery
Jessica Pingel, Jacob Wienecke, Jakob Lorentzen, Jens Bo Nielsen
Botulinum toxin is used to diminish spasticity and reduce the risk of development of contractures. Here, we investigated changes in muscle stiffness caused by reflex activity or elastic muscle properties following botulinum toxin injection in the triceps surae muscle in rats. Forty-four rats received injection of botulinum toxin in the left triceps surae muscle. Control measurements were performed on the non-injected contralateral side in all rats. Acute experiments were performed 1, 2, 4 and 8 weeks following injection...
September 14, 2016: Journal of Neurophysiology
Martin Jerie, Zdenek Vojtech, Hana Malikova, Sylva Prochazkova, Zuzana Vackova, Arndt Rolfs
We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, recurrent vomiting and dysphagia due to achalasia, severe hypoglycemic seizures and shock due to adrenal insufficiency. Neurological symptoms such as hyperreflexia, dysarthria, hypernasal speech, ataxia, sensory impairment, muscle weakness, and mental retardation are extremely slow to develop and manifest at a later age...
July 15, 2016: Neuro Endocrinology Letters
Aria Nouri, Lindsay Tetreault, Kristian Dalzell, Juan J Zamorano, Michael G Fehlings
BACKGROUND: Degenerative cervical myelopathy encompasses a group of conditions resulting in progressive spinal cord injury through static and dynamic compression. Although a constellation of changes can present on magnetic resonance imaging (MRI), the clinical significance of these findings remains a subject of controversy and discussion. OBJECTIVE: To investigate the relationship between clinical presentation and quantitative MRI features in patients with degenerative cervical myelopathy...
September 5, 2016: Neurosurgery
Charles C Anunobi, Olufemi Bankole, Nzechukwu Z Ikeri, Nurudeen A Adeleke
Clear cell meningiomas are an uncommon subtype of meningioma rarely seen in infancy. We report a case of clear cell meningioma in an 8-month-old male infant. He presented at the Lagos University Teaching Hospital, Lagos, Nigeria, in 2015 with persistent vomiting, poor feeding and failure to thrive over a four month period. Generalised hypertonia and hyperreflexia were noted on examination. Computed tomography of the brain revealed a huge largely isodense suprasellar mass with a hypodense core. The tumour, which measured 6 × 5 × 4 cm, enhanced non-uniformly with contrast injection and extended to occlude the third ventricle...
August 2016: Sultan Qaboos University Medical Journal
Wioletta Pijacka, Davi J A Moraes, Laura E K Ratcliffe, Angus K Nightingale, Emma C Hart, Melina P da Silva, Benedito H Machado, Fiona D McBryde, Ana P Abdala, Anthony P Ford, Julian F R Paton
In view of the high proportion of individuals with resistance to antihypertensive medication and/or poor compliance or tolerance of this medication, new drugs to treat hypertension are urgently needed. Here we show that peripheral chemoreceptors generate aberrant signaling that contributes to high blood pressure in hypertension. We discovered that purinergic receptor P2X3 (P2rx3, also known as P2x3) mRNA expression is upregulated substantially in chemoreceptive petrosal sensory neurons in rats with hypertension...
October 2016: Nature Medicine
Fiona M Baumer, Jurriaan M Peters, Christelle M El Achkar, Phillip L Pearl
Voltage-gated sodium channels (Nav) are critical regulators of neuronal excitability. Genes for the α-subunits of three sodium channel subtypes-SCN1A, SCN2A, and SCN3A-are all located on chromosome 2q24. A full-term boy with an unremarkable birth history presented at 1 month of age with unusual movements that had started on day of life 2. Exam was notable for lack of visual attention, hypotonia, and hyperreflexia. Electroencephalogram (EEG) showed an invariant burst suppression with multifocal spikes, ictal episodes with bicycling movements associated with buildups of rhythmic activity, and epileptic spasms...
March 2016: Journal of Pediatric Epilepsy
Rafid Al-Mahfoudh, Paul S Mitchell, Martin Wilby, Daniel Crooks, Chris Barrett, Robin Pillay, Tim Pigott
STUDY DESIGN: Case series and review of the literature. OBJECTIVE: To review the management of giant calcified disks in our large cohort and compare with the existing literature. We discuss our surgical technique. METHODS: Twenty-nine cases of herniated thoracic disk between 2000 and 2013 were reviewed. Eighteen patients were identified as having giant calcified thoracic disks, defined as diffusely calcified disks occupying at least 40% of the spinal canal...
September 2016: Global Spine Journal
Isabella Canazza, Andrea Ossato, Claudio Trapella, Anna Fantinati, Maria Antonietta De Luca, Giulia Margiani, Fabrizio Vincenzi, Claudia Rimondo, Fabiana Di Rosa, Adolfo Gregori, Katia Varani, Pier Andrea Borea, Giovanni Serpelloni, Matteo Marti
RATIONALE: AKB48 and its fluorinate derivate 5F-AKB48 are two novel synthetic cannabinoids belonging to a structural class with an indazole core structure. They are marketed as incense, herbal preparations or chemical supply for their psychoactive Cannabis-like effects. OBJECTIVES: The present study was aimed at investigating the in vitro and in vivo pharmacological activity of AKB48 and 5F-AKB48 in male CD-1 mice and comparing their in vivo effects with those caused by the administration of Δ(9)-THC and JWH-018...
October 2016: Psychopharmacology
L Saleh, K Verdonk, A Kaya, A H Danser, A H van den Meiracker, W Visser
OBJECTIVE: The ratio of the maternal plasma angiogenic factors soluble Fms-kinase 1 (sFlt-1) and placental growth factor (PlGF) is a novel diagnostic tool for preeclampsia (PE), with a value <38 predicting short-term absence of PE in women in whom the syndrome is suspected clinically. The clinical implication of a single determination below the sFlt-1/PlGF ratio of 38 beyond 1 week remains to be established. We therefore assessed the evolution of the sFlt-1/PlGF ratio in patients suspected of PE on clinical grounds...
September 2016: Journal of Hypertension
P F Herkert, F Hagen, G L de Oliveira Salvador, R R Gomes, M S Ferreira, V A Vicente, M D Muro, R L Pinheiro, J F Meis, F Queiroz-Telles
Cryptococcosis, caused by Cryptococcus gattii sensu lato, is an emerging disease that was initially found in (sub)tropical regions but recently expanded to temperate regions. Cryptococcus gattii s.l. infections are mostly encountered in healthy individuals, frequently affecting both lungs and the central nervous system (CNS). Usually, C. gattii s.l. is less susceptible to antifungal compounds than its counterpart, C. neoformans s.l. We studied 18 clinical C. gattii s.l. isolates with amplified fragment length polymorphism (AFLP) fingerprinting, mating-typing, multi-locus sequence typing (MLST) and antifungal susceptibility testing...
November 2016: European Journal of Clinical Microbiology & Infectious Diseases
Coral M Stredny, Olivia Frosch, Samata Singhi, Elissa Furutani, Adam D Durbin, Rachael F Grace, Nicole J Ullrich
BACKGROUND: Vitamin B12 deficiency is classically encountered in the adult Caucasian population and manifests as a subacute combined degeneration in the presence or absence of macrocytic anemia. However, B12 deficiency is extremely rare in children in developed countries, and pernicious anemia is even rarer etiology of this deficiency. The clinical presentation of B12 deficiency in children is not as easily recognizable or well-characterized and may result in missed or delayed diagnosis...
September 2016: Pediatric Neurology
Jennifer Frankovich, Maximillian Egan, Talia Mahony, William Benitz, Gary Shaw
Objective Lenticulostriate vasculopathy (LSV) is characterized by linear hyperechogenicities in the basal ganglia found on the head ultrasounds of infants. We reviewed electronic health records of infants with and without LSV to investigate whether physician dictations indicated symptoms which could reflect subtle basal ganglia injury. Study Design In a case-control study, we analyzed data from 46 infants with LSV and 127 controls. Infants were stratified between term and preterm birth. Odds ratios (ORs) and 95% confidence intervals were calculated for tone abnormalities, apnea, feeding difficulties, seizures, and movement abnormalities in the presence of LSV...
July 29, 2016: American Journal of Perinatology
Victor Chiappa, R Gilberto Gonzalez, Farrin A Manian, Vikram Deshpande
Presentation of Case. Dr. Nathan L. Scott (Medicine): A 46-year-old man with myxoid chondrosarcoma of the left femur was evaluated by the internal medicine consult service because he had worsening somnolence 1 day after he underwent proximal femoral replacement surgery. The patient had been well..
July 28, 2016: New England Journal of Medicine
João Dias Ferreira, Ana Castro Caldas, João Correia de Sá, Ruth Geraldes
Nervous system involvement in Hepatitis C virus infection (HCV) has been associated to neuro-immunological deregulation, particularly in interferon-alpha treated patients. We present a case of optic and brainstem demyelinating disorder associated with aquaporin-4 (AQP4) antibodies. A 48 year-old woman, with previous diagnosis of non-treated hepatitis C, presented with a 10-year history of long-standing gait disturbance. Neurological examination disclosed a grade 4 spastic paraparesis, lower limb hyperreflexia, right positive Hoffmann sign, bilateral Babinski sign and spastic gait only possible with bilateral support...
July 2016: Multiple Sclerosis and related Disorders
Kyle J Steinman, Sarah J Spence, Melissa B Ramocki, Monica B Proud, Sudha K Kessler, Elysa J Marco, LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, Wendy K Chung, Elliott H Sherr
Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but detailed descriptions of their neurologic phenotypes have not yet been completed. We utilized standardized examination and history methods to characterize a neurologic phenotype in 136 carriers of 16p11.2 deletion and 110 carriers of 16p11.2 duplication-the largest cohort to date of uniformly and comprehensively characterized individuals with the same 16p copy number variants (CNVs)...
July 13, 2016: American Journal of Medical Genetics. Part A
N Álvarez, L Díez, C Avellaneda, M Serra, M Á Rubio
INTRODUCTION: Pyramidal signs (hyperreflexia, spasticity, Babinski sign) are essential for the diagnosis of amyotrophic lateral sclerosis (ALS). However, these signs are not always present at onset and may vary over time, besides which their role in disease evolution is controversial. Our goal was to describe which pyramidal signs were present and how they evolved in a cohort of patients with ALS, as well as their role in prognosis. METHODS: Retrospective analysis of prospectively collected patients diagnosed with ALS in our centre from 1990 to 2015...
June 20, 2016: Neurología: Publicación Oficial de la Sociedad Española de Neurología
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