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Alaa Eskandrani, Amal AlHashem, El-Sayed Ali, Saad AlShahwan, Kalthoum Tlili, Khaled Hundallah, Brahim Tabarki
BACKGROUND: Mutations in AFG3L2, a gene encoding a subunit of the mitochondrial m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy. METHODS: Retrospective review of the patient charts including their clinical evaluation and molecular genetic, neurodiagnostic, and neuroradiological investigations. RESULTS: We describe five members of a large consanguineous family with a severe mitochondrial phenotype in the form of regression of the developmental milestones in the first year of life, refractory epilepsy, progressive microcephaly, increased blood lactate, basal ganglia involvement, and premature death...
April 5, 2017: Pediatric Neurology
Andrew Todd Ham
Neurodiagnostics professionals expected to perform EEG calculations involving timebase and sensitivity may benefit from an additional method in which to solve for the answers. Dimensional analysis (DA) is an efficient, organized method that generates answers in a consolidated context. Its coherent, streamlined mechanism allows for efficient computations involving sets of values with diametric units. One of its key advantages is its ability to emphasize conceptualization, which may be attractive to those with that mathematical personality...
2017: Neurodiagnostic Journal
Jerry Morris
No abstract text is available yet for this article.
2017: Neurodiagnostic Journal
Arezou Khoshakhlagh, Sarath D Gunapala
Infrared (IR) imaging is used to detect the subtle changes in temperature needed to accurately detect and monitor disease. Technological advances have made IR a highly sensitive and reliable detection tool with strong potential in medical and neurophotonics applications. An overview of IR imaging specifically investigating quantum well IR detectors developed at Jet Propulsion Laboratory for a noninvasive, nonradiating imaging tool is provided, which could be applied for neuroscience and neurosurgery where it involves sensitive cellular temperature change...
January 2017: Neurophotonics
Oğuzhan Kurşun, Hülya Karataş, Neşe Dericioğlu, Serap Saygi
INTRODUCTION: Specialized centers, in the management and surgical treatment of medically refractory epilepsy, emphasize the importance of differentiating the varieties of localization related epilepsies. There has been considerable recent interest in temporal and frontal lobe epileptic syndromes and less attention has been paid to parietal and occipital lobe epilepsies. METHODS: Here we report the clinical, electroencephalographic and neuroimaging characteristics of 46 patients with medically refractory lesional parietal lobe epilepsy who have been followed up for 1-10 years...
September 2016: Noro Psikiyatri Arsivi
Maysaa Merhi Basha, Kushak Suchdev, Monica Dhakar, William J Kupsky, Sandeep Mittal, Aashit K Shah
BACKGROUND: To identify the role of acute surgical intervention in the treatment of refractory status epilepticus (RSE). METHODS: Retrospective review of consecutive patients who underwent epilepsy surgery from 2006 to 2015 was done to identify cases where acute surgical intervention was employed for the treatment of RSE. In addition, the adult and pediatric RSE literature was reviewed for reports of surgical treatment of RSE. RESULTS: Nine patients, aged 20-68 years, with various etiologies were identified to have undergone acute surgical resection for the treatment of RSE, aided by electrocorticography...
March 29, 2017: Neurocritical Care
Devan A Keesling, Jordan Paige Parker, Jason Tait Sanchez
iChirp-evoked auditory brainstem responses (ABRs) yield a larger wave V amplitude at low intensity levels than traditional broadband click stimuli, providing a reliable estimation of hearing sensitivity. However, advantages of iChirp stimulation at high intensity levels are unknown. We tested to see if high-intensity (i.e., 85 dBnHL) iChirp stimulation results in larger and more reliable ABR waveforms than click. Using the commercially available Intelligent Hearing System SmartEP platform, we recorded ABRs from 43 normal hearing young adults...
February 1, 2017: Audiology Research
M McDermott, T Jacobs, L Morgenstern
Most ischemic strokes are managed on the ward or on designated stroke units. A significant proportion of patients with ischemic stroke require more specialized care. Several studies have shown improved outcomes for patients with acute ischemic stroke when neurocritical care services are available. Features of acute ischemic stroke patients requiring intensive care unit-level care include airway or respiratory compromise; large cerebral or cerebellar hemisphere infarction with swelling; infarction with symptomatic hemorrhagic transformation; infarction complicated by seizures; and a large proportion of patients require close management of blood pressure after thrombolytics...
2017: Handbook of Clinical Neurology
K van der Marel, S Vedantham, I M J van der Bom, M Howk, T Narain, K Ty, A Karellas, M J Gounis, A S Puri, A K Wakhloo
BACKGROUND AND PURPOSE: Advancements in medical device and imaging technology as well as accruing clinical evidence have accelerated the growth of the endovascular treatment of cerebrovascular diseases. However, the augmented role of these procedures raises concerns about the radiation dose to patients and operators. We evaluated patient doses from an x-ray imaging platform with radiation dose-reduction technology, which combined image noise reduction, motion correction, and contrast-dependent temporal averaging with optimized x-ray exposure settings...
January 19, 2017: AJNR. American Journal of Neuroradiology
Stephanie L Merhar, Vann Chau
Hypoxic-ischemic encephalopathy is associated with a high risk of morbidity and mortality in the neonatal period. Long-term neurodevelopmental disability is also frequent in survivors. Conventional MRI defines typical patterns of injury that reflect specific pathophysiologic mechanisms. Advanced magnetic resonance techniques now provide unique perspectives on neonatal brain metabolism, microstructure, and connectivity. The application of these imaging techniques has revealed that brain injury commonly occurs at or near the time of birth and evolves over the first weeks of life...
September 2016: Clinics in Perinatology
Christopher D Smyser, Emily W Y Tam, Taeun Chang, Janet S Soul, Steven P Miller, Hannah C Glass
BACKGROUND: Neonatal neurocritical care is a growing and rapidly evolving medical subspecialty, with increasing numbers of dedicated multidisciplinary clinical, educational, and research programs established at academic institutions. The growth of these programs has provided trainees in neurology, neonatology, and pediatrics with increased exposure to the field, sparking interest in dedicated fellowship training in fetal-neonatal neurology. OBJECTIVES: To meet this rising demand, increasing numbers of training programs are being established to provide trainees with the requisite knowledge and skills to independently deliver care for infants with neurological injury or impairment from the fetal care center and neonatal intensive care unit to the outpatient clinic...
October 2016: Pediatric Neurology
Carlos Cabral, Lana Kambeitz-Ilankovic, Joseph Kambeitz, Vince D Calhoun, Dominic B Dwyer, Sebastian von Saldern, Maria F Urquijo, Peter Falkai, Nikolaos Koutsouleris
Previous studies have shown that structural brain changes are among the best-studied candidate markers for schizophrenia (SZ) along with functional connectivity (FC) alterations of resting-state (RS) patterns. This study aimed to investigate effects of clinical and sociodemographic variables on the classification by applying multivariate pattern analysis (MVPA) to both gray matter (GM) volume and FC measures in patients with SZ and healthy controls (HC). RS and structural magnetic resonance imaging data (sMRI) from 74 HC and 71 SZ patients were obtained from a Mind Research Network COBRE dataset available via COINS (http://coins...
July 2016: Schizophrenia Bulletin
Linda J Kelly, Vicki L Sexton
Anti-N-methyl-D-aspartate receptor encephalitis is a newly described disease process. Patients are generally young females who present with psychiatric symptoms and progress to have seizures, abnormal movements, and. autonomic instability. Diagnosis is made based on serum and cerebrospinal fluid results, However, a characteristic EEG pattern described as extreme delta brush has been associated with this disorder making it especially relevant to neurodiagnostic technologists in practice today. Our case presentations follow two patients through the course of their illness and recovery...
June 2016: Neurodiagnostic Journal
Andrey Mazarati, Raman Sankar
The importance of comorbidities in determining the quality of life of individuals with epilepsy and their families has received increasing attention in the past decade. Along with it has come a recognition that in some individuals, certain comorbidities may have preexisted, and may have contributed to their developing epilepsy. Many mechanisms are capable of interconnecting different dysfunctions that manifest as distinct disorders, often diagnosed and managed by different specialists. We review the human data from the perspective of epidemiology as well as insights gathered from neurodiagnostic and endocrine studies...
July 1, 2016: Cold Spring Harbor Perspectives in Medicine
Melissa P Wasserstein, Mary Andriola, Georgianne Arnold, Alan Aron, Patricia Duffner, Richard W Erbe, Maria L Escolar, Lissette Estrella, Patricia Galvin-Parton, Alejandro Iglesias, Denise M Kay, David F Kronn, Joanne Kurtzberg, Jennifer M Kwon, Thomas J Langan, Paul A Levy, Thomas P Naidich, Joseph J Orsini, Joan E Pellegrino, James M Provenzale, David A Wenger, Michele Caggana
BACKGROUND: Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006. METHODS: Infants with abnormal newborn screen results for Krabbe disease were referred to specialty-care centers. Newborns found to be at high risk for Krabbe disease underwent a neurodiagnostic battery to determine the need for emergent HSCT...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Misun Hwang, Giulio Zuccoli, Ashok Panigrahy, David Rodriguez, Michele D Poe, Maria L Escolar
OBJECTIVES: Evaluation of Krabbe disease burden and eligibility for hematopoietic stem cell transplantation are often based on neuroimaging findings using the modified Loes scoring system, which encompasses central but not peripheral nervous system changes. We show that quantitative evaluation of thickened cauda equina nerve roots may improve the evaluation of Krabbe disease and therapeutic guidance. METHODS: Lumbar spine MRI scans of patients obtained between March 2013 and September 2013 were retrospectively evaluated and compared to those of controls...
October 2016: European Radiology
Brent L Fogel, Saty Satya-Murti, Bruce H Cohen
PURPOSE OF REVIEW: The landscape of genetic diagnostic testing has changed dramatically with the introduction of next-generation clinical exome sequencing (CES), which provides an unbiased analysis of all protein-coding sequences in the roughly 21,000 genes in the human genome. Use of this testing, however, is currently limited in clinical neurologic practice by the lack of a framework for appropriate use and payer coverage. RECENT FINDINGS: CES can be cost-effective due to its high diagnostic yield in comparison to other genetic tests in current use and should be utilized as a routine diagnostic test in patients with heterogeneous neurologic phenotypes facing a broad genetic differential diagnosis...
April 2016: Neurology. Clinical Practice
Jonathan Nakhla, Rani Nasser, Reza Yassari, David Pasquale, David Altschul
BACKGROUND: Subarachnoid hemorrhage (SAH) caused by a ruptured cervical anterior spinal artery aneurysm is extremely rare and in the setting of cervical spondylosis. This case presentation reviews the diagnosis, management, and treatment of such aneurysms. CASE PRESENTATION: An 88-year-old female presented with the worst headache of her life without focal deficits. She was found to have diffuse SAH in the basal cisterns extending inferiorly down the spinal canal...
2016: Surgical Neurology International
Joseph J Orsini, Denise M Kay, Carlos A Saavedra-Matiz, David A Wenger, Patricia K Duffner, Richard W Erbe, Chad Biski, Monica Martin, Lea M Krein, Matthew Nichols, Joanne Kurtzberg, Maria L Escolar, Darius J Adams, Georgianne L Arnold, Alejandro Iglesias, Patricia Galvin-Parton, David F Kronn, Jennifer M Kwon, Paul A Levy, Joan E Pellegrino, Natasha Shur, Melissa P Wasserstein, Michele Caggana
PURPOSE: Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation. New York State (NYS) implemented newborn screening for KD in 2006. METHODS: Dried blood spots from newborns were assayed for GALC enzyme activity using mass spectrometry, followed by molecular analysis for those with low activity (≤12% of the daily mean)...
March 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Susan D Agostini, Ann M Bonner
PURPOSE: To determine and describe the contribution of Neurodiagnostic (ND) technologists in achieving better patient outcomes. METHODS: An online survey was distributed to ND services leadership (administrators, laboratory managers, supervisors, team leads, service owners, and Medical Directors) in the United States (U.S.) to assess the impact of ND professionals and credentialing on improved patient care. The 9-question internet survey addressed three sections: 1) Participant demographics; 2) Quality improvement with credentialing; 3) Value in obtaining credentials...
December 2015: Neurodiagnostic Journal
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