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https://www.readbyqxmd.com/read/28202706/clinical-and-genetic-factors-predicting-dravet-syndrome-in-infants-with-scn1a-mutations
#1
Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Annarita Ferrari, Federico Sicca, Nicola Specchio, Marina Trivisano, Domenica Battaglia, Ilaria Contaldo, Nelia Zamponi, Cristina Petrelli, Tiziana Granata, Francesca Ragona, Giuliano Avanzini, Renzo Guerrini
OBJECTIVE: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28196729/delayed-expansion-of-an-intracranial-cyst-induced-by-ventriculoperitoneal-shunt-in-a-patient-with-chiari-malformation-type-2
#2
Yoshinori Maki, Tsuyoshi Ohta, Hirokazu Onishi, Naoki Fukui, Masanori Morimoto
A male neonate was referred to our hospital for the treatment of myelomeningocele and hydrocephalus related to Chiari malformation type 2. After the placement of ventriculoperitoneal (VP) shunt for hydrocephalus, an intracranial cyst, which was asymptomatic at first, expanded and caused clinical symptoms due to increased intracranial pressure. The expansion of the cyst was confirmed dominantly in the right lateral ventricle where the VP shunt was inserted. Intraoperative findings through a neuroendoscope suggested that the expanded cyst was an isolated lesion...
February 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28192262/intra-operative-ultrasonography-for-definition-of-less-invasive-surgical-technique-in-patients-with-chiari-type-i-malformation
#3
Roger Schmidt Brock, Mario Augusto Taricco, Matheus Fernandes de Oliveira, Marcelo de Lima Oliveira, Manoel Jacobsen Teixeira, Edson Bor-Seng-Shu
INTRODUCTION: Chiari malformation Type I (CM) is the main congenital malformation disease of the craniovertebral junction. The ideal surgical treatment is still controversial. Invasive procedures inside CSF space and associated with dural repair are considered the gold standard, however a less invasive surgery with isolated bone decompression without dural opening may be possible in selected patients.. Our study evaluates the efficacy of intra-operative CSF flow measurement with ultrasonography (USG) as a determining parameter in the selection of these patients...
February 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28188832/experimental-guillain-barre-syndrome-induced-by-immunization-with-gangliosides-keyhole-limpet-hemocyanin-is-required-for-disease-triggering
#4
Samanta C Funes, María Eugenia Chiari, Romina Comín, Fernando J Irazoqui, Gustavo A Nores
An experimental model of Guillain-Barré Syndrome has been established in recent years. Rabbits develop disease upon immunization with a single dose of an emulsion containing bovine brain gangliosides, KLH and complete Freund's adjuvant. Within a period of four to ten weeks after immunization, they began to produce anti-ganglioside IgG-antibodies first, and to show clinical signs of neuropathy afterwards. In addition to gangliosides, KLH is a requirement for antibody production and disease triggering. Although KLH is commonly used as an immunological carrier protein, an anti-KLH-specific immune response was necessary for induction of both events...
February 7, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28186474/morbidity-associated-with-30-day-surgical-site-infection-following-nonshunt-pediatric-neurosurgery
#5
Brandon A Sherrod, Brandon G Rocque
OBJECTIVE Morbidity associated with surgical site infection (SSI) following nonshunt pediatric neurosurgical procedures is poorly understood. The purpose of this study was to analyze acute morbidity and mortality associated with SSI after nonshunt pediatric neurosurgery using a nationwide cohort. METHODS The authors reviewed data from the American College of Surgeons National Surgical Quality Improvement Program-Pediatric (NSQIP-P) 2012-2014 database, including all neurosurgical procedures performed on pediatric patients...
February 10, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28185017/intradiploic-pseudomeningocele-and-ossified-occipitocervical-pseudomeningocele-after-decompressive-surgery-for-chiari-i-malformation-report-of-two-cases-and-literature-review
#6
Arthur R Kurzbuch, Shailendra Magdum, Jayaratnam Jayamohan
Intradiploic cerebrospinal fluid (CSF) collections are rare findings. The authors describe two pediatric patients with iatrogenically induced occipital CSF collections after decompressive surgery for Chiari I malformation. The first patient presents a large occipital intradiploic pseudomeningocele and the second patient an intradiploic pseudomeningocele merging with an ossified occipitocervical pseudomeningocele. Though being rarities after decompression for Chiari I malformation, intradiploic fluid collection and ossified pseudomeningocele should be considered if patients represent with aggravating presurgical or new symptoms...
February 9, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28181025/surgical-management-of-chiari-i-malformation-based-on-different-cerebrospinal-fluid-flow-patterns-at-the-cranial-vertebral-junction
#7
Tao Fan, HaiJun Zhao, XinGang Zhao, Cong Liang, YinQian Wang, QiFei Gai
Chiari I malformation has been shown to present different cerebrospinal fluid (CSF) flow patterns at the cranial-vertebral junction (CVJ). Posterior fossa decompression is the first-line treatment for symptomatic Chiari I malformation. However, there is still controversy on the indication and selection of decompression procedures. This research aims to investigate the clinical indications, outcomes, and complications of the decompression procedures as alternative treatments for Chiari I malformation, based on the different CSF flow patterns at the cranial-vertebral junction...
February 9, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28180235/incidence-rates-and-case-fatality-rates-of-portal-vein-thrombosis-and-budd-chiari-syndrome
#8
Walter Ageno, Francesco Dentali, Fulvio Pomero, Luigi Fenoglio, Alessandro Squizzato, Giovanni Pagani, Roberta Re, Matteo Bonzini
Little information is available on the incidence of splanchnic vein thrombosis and on mortality rates during the acute phase of the disease. We performed a large epidemiologic study on hospital admissions for portal vein thrombosis (PVT) and the Budd-Chiari syndrome (BCS) between 2002 and 2012 in Northwestern Italy. Primary and secondary discharge diagnoses of PVT and BCS were identified using the 9th edition International Classification of Diseases codes 453.0, 572.1 and 452. Hospitalisations for recurrent events were not included...
February 9, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28176618/experience-of-liver-transplant-in-patients-diagnosed-with-budd-chiari-syndrome
#9
Syed Muhammad Raza, Saima Zainab, Ali Reza Shamsaeefar, Saman Nikeghbalian, Seyed Ali Malek Hosseini
OBJECTIVES: Budd-Chiari syndrome can lead to fulminant hepatic failure and cirrhosis. The treatment depends on the severity of disease. Liver transplant is a successful treatment option for those with advanced-stage disease. MATERIALS AND METHODS: In this retrospective study, we analyzed all liver transplants conducted for Budd-Chiari syndrome at the organ transplant unit of Shiraz University of Medical Sciences, Iran, from 1993 to January 2016. Overall, 3201 liver transplant procedures were performed...
February 7, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28175566/351%C3%A2-do-rehabilitation-therapies-affect-patient-outcomes-after-chiari-i-decompression-surgery
#10
Grace M Deyo, Danielle N Ryan, Stephen P Sales, Lance S Governale
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28171875/applicability-of-cone-beam-computed-tomography-to-the-assessment-of-the-vocal-tract-before-and-after-vocal-exercises-in-normal-subjects
#11
Elisângela Zacanti Garcia, Hélio Kiitiro Yamashita, Davi Sousa Garcia, Marina Martins Pereira Padovani, Renata Rangel Azevedo, Brasília Maria Chiari
BACKGROUND/AIMS: Cone beam computed tomography (CBCT), which represents an alternative to traditional computed tomography and magnetic resonance imaging, may be a useful instrument to study vocal tract physiology related to vocal exercises. This study aims to evaluate the applicability of CBCT to the assessment of variations in the vocal tract of healthy individuals before and after vocal exercises. METHODS: Voice recordings and CBCT images before and after vocal exercises performed by 3 speech-language pathologists without vocal complaints were collected and compared...
February 8, 2017: Folia Phoniatrica et Logopaedica
https://www.readbyqxmd.com/read/28169486/hepatic-vena-cava-syndrome-new-concept-of-pathogenesis
#12
REVIEW
Santosh Man Shrestha, Masayoshi Kage, Byung Boong Lee
Hepatic vena cava syndrome (HVCS) also known as membranous obstruction of inferior vena cava was considered a rare congenital disease and included under Budd Chiari syndrome. It is now recognized as a bacterial infection induced disease related to poor hygienic living condition. Localized thrombophlebitis of IVC at the site close to hepatic veins (HV) outlets is the initial lesion which converts on resolution into stenosis or complete obstruction, the circulatory equilibrium being maintained by development of cavo-caval collateral anastomosis...
February 7, 2017: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/28165764/gravity-assisted-valve-gav-systems-to-prevent-low-pressure-headaches-in-patients-with-lumboperitoneal-shunts
#13
Mohammed Akbar Hussain, Roger David Strachan
OBJECTIVES: Low-pressure symptoms after lumboperitoneal (LP) shunting for idiopathic intracranial hypertension (IIH) remain a significant problem. Gravity-assisted valves (GAV) operate at a higher pressure in a vertical position and therefore aim to reduce postural over-drainage. We audited patients with GAV valves inserted in their shunt system to assess their efficacy in reducing low-pressure symptoms and ascertain whether the additional cost of such device can be justified. METHOD: Using a standard proforma, we reviewed patient medical notes and recorded indications and post-operative outcomes in symptom control...
February 6, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28162424/-199-pain-characteristics-before-and-after-chiari-1-surgery
#14
F Cantor, J Skala, J Heiss
No abstract text is available yet for this article.
April 2016: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/28161771/louse-borne-relapsing-fever-in-a-refugee-from-mali
#15
Cecilia Grecchi, Paola Zanotti, Agostina Pontarelli, Erika Chiari, Lina Rachele Tomasoni, Maurizio Gulletta, Anna Barbui, Silvio Caligaris, Alberto Matteelli, Francesco Castelli
INTRODUCTION: Due to the increasing number of refugees from East Africa, louse-borne relapsing fever (LBRF) has become an emergent disease in Europe. No single case of LBRF has been reported in Europe in refugees from other parts of Africa. CASE REPORT: We report a case of LBRF in a refugee from Mali, likely acquired in Libya, where several migration routes into Europe meet. The disease must be considered in any febrile refugee regardless the country of origin.
February 4, 2017: Infection
https://www.readbyqxmd.com/read/28157255/current-views-on-fetal-surgical-treatment-of-myelomeningocele-the-management-of-myelomeningocele-study-moms-trial-and-polish-clinical-experience
#16
Jacek Zamłyński, Ewa Horzelska, Mateusz Zamłyński, Katarzyna Olszak-Wąsik, Leszek Nowak, Piotr Bodzek, Tomasz Horzelski, Rafał Bablok, Anita Olejek
Myelomeningocele (MMC) is the most frequent congenital defect of the central nervous system for which there is no satisfactory alternative to postnatal treatment. On the contrary prenatal MMC surgery is conducting before birth and is aimed at protecting from Chiari II malformation. The main goal of fetal MMC repair is to improve development and life quality of children with Chiari II malformation. Management of Myelomeningocele Study (MOMS) which was published in 2011 clearly confirmed effectiveness of prenatal surgery...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28156254/population-based-description-of-familial-clustering-of-chiari-malformation-type-i
#17
Diana Abbott, Douglas Brockmeyer, Deborah W Neklason, Craig Teerlink, Lisa A Cannon-Albright
OBJECTIVE A population-based genealogical resource with linked medical data was used to define the observed familial clustering of Chiari malformation Type I (CM-I). METHODS All patients with CM-I were identified from the 2 largest health care providers in Utah; those patients with linked genealogical data were used to test hypotheses regarding familial clustering. Relative risks (RRs) in first-, second-, and third-degree relatives were estimated using internal cohort-specific CM-I rates; the Genealogical Index of Familiality (GIF) test was used to test for an excess of relationships between all patients with CM-I compared with the expected distribution of relationships for matched control sets randomly selected from the resource...
February 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28153486/changes-in-liver-congestion-in-patients-with-budd-chiari-syndrome-following-endovascular-interventions-assessment-with-transient-elastography
#18
Amar Mukund, Sudheer S Pargewar, Saloni N Desai, S Rajesh, Shiv K Sarin
PURPOSE: Transient elastography (TE) is routinely used for noninvasive staging of hepatic fibrosis. The objective of the present study was to investigate the role of TE (FibroScan) in determining changes in liver congestion in patients with Budd-Chiari syndrome (BCS) treated by endovascular interventions and determine the effects of pretreatment Meta-analysis of Histological Data in Viral Hepatitis (METAVIR) fibrosis score on posttreatment liver stiffness (LS). MATERIALS AND METHODS: Twenty-five patients undergoing endovascular procedures for treatment of BCS underwent TE immediately before and within 24 hours after the procedure...
January 30, 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28149751/preface-on-emerging-treatment-options-for-brain-metastases-from-non-small-cell-lung-cancer
#19
Giulio Metro, Rita Chiari
No abstract text is available yet for this article.
December 2016: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28139319/paradoxical-vocal-fold-motion-pvfm-in-pediatric-otolaryngology
#20
Blake Smith, Claudio Milstein, Bryan Rolfes, Samantha Anne
INTRODUCTION: Paradoxical vocal fold motion (PVFM) is a condition in which the vocal cords exhibit inappropriate inspiratory adduction, and it has been poorly studied in the pediatric population. METHODS: Pediatric patients diagnosed with PVCM by a pediatric otolaryngologist and doctor of speech pathology from 2008 to 2012 were reviewed. Patients in whom another cause for their respiratory disturbance was eventually identified were excluded. Patient demographics, characteristics, treatment, and outcomes were reviewed...
January 24, 2017: American Journal of Otolaryngology
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