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https://www.readbyqxmd.com/read/29929013/a-case-report-on-a-novel-mt-atp6-gene-variation-in-atypical-mitochondrial-leigh-syndrome-associated-with-bilateral-basal-ganglia-calcifications
#1
Arshia Angural, Indu Sharma, Pranav Pandoh, Varun Sharma, Akshi Spolia, Ekta Rai, Vinod Singh, Sushil Razdan, Kamal Kishore Pandita, Swarkar Sharma
Leigh Syndrome (LS) is a rare, hereditary progressive neurodegenerative disorder of infancy or early childhood associated with a highly variable clinical presentation even among siblings. Further, genetic heterogeneity makes its diagnosis complicated. Its causative genetic variations are notified in some of the mitochondrial and nuclear genes. Here, we report an atypical case of LS in a 9-year-old boy associated with a novel variation in MT-ATP6 gene. The atypical findings were Bilateral Basal Ganglia Calcification (BGC) and late survival age in the patient...
June 18, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29904027/chaperonology-the-third-eye-on-brain-gliomas
#2
Francesca Graziano, C Caruso Bavisotto, A Marino Gammazza, Francesca Rappa, Everly Conway de Macario, Albert J L Macario, Francesco Cappello, Claudia Campanella, Rosario Maugeri, Domenico Gerardo Iacopino
The European Organization for Research and Treatment of Cancer/National Cancer Institute of Canada Phase III trial has validated as a current regimen for high-grade gliomas (HGG) a maximal safe surgical resection followed by radiotherapy with concurrent temozolamide. However, it is essential to balance maximal tumor resection with preservation of the patient’s neurological functions. Important developments in the fields of pre-operative and intra-operative neuro-imaging and neuro-monitoring have ameliorated the survival rate and the quality of life for patients affected by HGG...
June 14, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29895892/large-scale-mapping-of-cortical-alterations-in-22q11-2-deletion-syndrome-convergence-with-idiopathic-psychosis-and-effects-of-deletion-size
#3
Daqiang Sun, Christopher R K Ching, Amy Lin, Jennifer K Forsyth, Leila Kushan, Ariana Vajdi, Maria Jalbrzikowski, Laura Hansen, Julio E Villalon-Reina, Xiaoping Qu, Rachel K Jonas, Therese van Amelsvoort, Geor Bakker, Wendy R Kates, Kevin M Antshel, Wanda Fremont, Linda E Campbell, Kathryn L McCabe, Eileen Daly, Maria Gudbrandsen, Clodagh M Murphy, Declan Murphy, Michael Craig, Jacob Vorstman, Ania Fiksinski, Sanne Koops, Kosha Ruparel, David R Roalf, Raquel E Gur, J Eric Schmitt, Tony J Simon, Naomi J Goodrich-Hunsaker, Courtney A Durdle, Anne S Bassett, Eva W C Chow, Nancy J Butcher, Fidel Vila-Rodriguez, Joanne Doherty, Adam Cunningham, Marianne B M van den Bree, David E J Linden, Hayley Moss, Michael J Owen, Kieran C Murphy, Donna M McDonald-McGinn, Beverly Emanuel, Theo G M van Erp, Jessica A Turner, Paul M Thompson, Carrie E Bearden
The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date...
June 13, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29893758/early-and-rapid-detection-of-uchl1-in-the-serum-of-brain-trauma-patients-a-novel-gold-nanoparticle-based-method-for-diagnosing-the-severity-of-brain-injury
#4
Gyaninder Pal Singh, Richa Nigam, Gaurav Singh Tomar, Mohan Monisha, Sanjeev Kumar Bhoi, Arulselvi S, Kangana Sengar, Deepa Akula, Prashanth Panta, Roy Anindya
The clinical diagnosis of traumatic brain injury (TBI) is based on neurological examination and neuro-imaging tools such as CT scanning and MRI. However, neurological examination at times may be confounded by consumption of alcohol or drugs and neuroimaging facilities may not be available at all centers. Human ubiquitin C-terminal hydrolase (UCHL1) is a well-accepted serum biomarker for severe TBI and can be used to detect the severity of a head injury. A reliable, rapid, cost effective, bedside and easy to perform method for the detection of UCHL1 is a pre-requisite for wide clinical applications of UCHL1 as a TBI biomarker...
June 12, 2018: Analyst
https://www.readbyqxmd.com/read/29885032/development-and-pilot-test-of-a-new-set-of-good-practice-indicators-for-chronic-non-malignant-pain-management
#5
Pedro Jesus Saturno, Daniel Angel-García, Ismael Martínez-Nicolás, Francisco López Soriano, Maria Pilar Escolar Reina, María Beatriz Guerrero Díaz, María Encarnación Ros Martínez, Francesc Medina Mirapeix, Mayo Saturno Marcos
OBJECTIVES: This study was designed to address the current relative void of valid measures by developing evidence-based quality indicators for pain management of chronic non-malignant pain. METHODS: We performed a 10-year literature search to identify guidelines and review articles on chronic pain management to identify evidence-based recommendations for the different conditions associated to chronic pain. A complementary search of indicators and indicator-related articles was also performed...
June 8, 2018: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/29858103/-calcifying-pseudoneoplasm-of-the-neuraxis
#6
Mathilde Duchesne, Quoc Dat Nguyen, Anne Guyot, Isabelle Pommepuy, François Caire, François Labrousse
Calcifying pseudoneoplasms of the neuraxis (CAPNON) are rare lesions of the central nervous system. To date, about 60 cases have been reported in literature. We present a case that had the peculiarity to occur in a pregnant woman. At 32 weeks of gestation, a 26-year-old woman was hospitalized to explore nocturnal epigastralgia. During the hospitalisation, the patient presented generalised seizures. As an eclampsia had been suspected, a caesarean delivery was performed. Post-operatively, the patient harboured memory disorders and neuro-imaging explorations were done...
May 29, 2018: Annales de Pathologie
https://www.readbyqxmd.com/read/29847548/reduced-striatal-dopamine-release-during-motor-skill-acquisition-in-parkinson-s-disease
#7
Shoji Kawashima, Yoshino Ueki, Takashi Kato, Kengo Ito, Noriyuki Matsukawa
BACKGROUND: Striatal dopamine is functionally important for the acquisition of motor skills. However, it remains controversial as to whether intrinsic processing of motor learning is impaired in patients with Parkinson's disease (PD), and if yes, whether the impairment is associated with altered striatal dopamine release. Additionally, most neuro-imaging studies of patients with PD have focused on motor sequence learning. In contrast, skill acquisition, specifically, the reconstruction of muscle control of isolated movements, has barely been studied...
2018: PloS One
https://www.readbyqxmd.com/read/29803093/profiling-biomarkers-of-traumatic-axonal-injury-from-mouse-to-man
#8
REVIEW
Susruta Manivannan, Milan Makwana, Aminul Islam Ahmed, Malik Zaben
Traumatic brain injury (TBI) poses a major public health problem on a global scale. Its burden results from high mortality and significant morbidity in survivors. This stems, in part, from an ongoing inadequacy in diagnostic and prognostic indicators despite significant technological advances. Traumatic axonal injury (TAI) is a key driver of the ongoing pathological process following TBI, causing chronic neurological deficits and disability. The science underpinning biomarkers of TAI has been a subject of many reviews in recent literature...
May 18, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29783006/technique-of-whole-sellar-stereotactic-radiosurgery-for-cushing-s-disease-results-from-a-multicenter-international-cohort-study
#9
Matthew J Shepard, Gautam U Mehta, Zhiyuan Xu, Hideyuki Kano, Nathaniel Sisterson, Yan-Hua Su, Michal Krsek, Ahmed M Nabeel, Amr El-Shehaby, Khaled A Kareem, Nuria Martinez-Moreno, David Mathieu, Brendan J McShane, Kevin Blas, Douglas Kondziolka, Inga Grills, John Y Lee, Roberto Martinez-Alvarez, Wael A Reda, Roman Liscak, Cheng-Chia Lee, L Dade Lunsford, Mary Lee Vance, Jason P Sheehan
BACKGROUND: Stereotactic radiosurgery (SRS) is used to manage patients with Cushing's disease (CD) who have failed surgical/medical management. As many patients with recurrent/persistent CD lack an identifiable adenoma on neuro-imaging, whole-sellar SRS has been increasingly employed. We therefore sought to define the outcomes of patients undergoing whole-sellar SRS. METHODS: An international, multicenter, retrospective cohort-design was used to define clinical/endocrine outcomes for patients undergoing whole-sellar SRS for CD...
May 18, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29769509/joubert-s-syndrome-a-report-of-two-cases
#10
M M Rahman, S M Rahman
Joubert's syndrome and related disorders are primarily disorder of cerebellar development. It has heterogeneity of presentation that varies from patient to patient. In the recent past we encountered a pair of children who presented with developmental delay, hypotonia and abnormal eye movements. Classic Joubert's syndrome was confirmed on the basis of clinical and neuro-imaging findings. So careful clinical assessment and appropriate neuro-imaging should be done in suspected cases for confirmation of diagnosis...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29764028/-application-of-3d-virtual-reality-technology-with-multi-modality-fusion-in-resection-of-glioma-located-in-central-sulcus-region
#11
T N Chen, X T Yin, X G Li, J Zhao, L Wang, N Mu, K Ma, K Huo, D Liu, B Y Gao, H Feng, F Li
Objective: To explore the clinical and teaching application value of virtual reality technology in preoperative planning and intraoperative guide of glioma located in central sulcus region. Method: Ten patients with glioma in the central sulcus region were proposed to surgical treatment. The neuro-imaging data, including CT, CTA, DSA, MRI, fMRI were input to 3dgo sczhry workstation for image fusion and 3D reconstruction. Spatial relationships between the lesions and the surrounding structures on the virtual reality image were obtained...
May 8, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29761060/loss-anticipation-and-outcome-during-the-monetary-incentive-delay-task-a-neuroimaging-systematic-review-and-meta-analysis
#12
Jules R Dugré, Alexandre Dumais, Nathalie Bitar, Stéphane Potvin
Background: Reward seeking and avoidance of punishment are key motivational processes. Brain-imaging studies often use the Monetary Incentive Delay Task (MIDT) to evaluate motivational processes involved in maladaptive behavior. Although the bulk of research has been done on the MIDT reward events, little is known about the neural basis of avoidance of punishment. Therefore, we conducted a meta-analysis of brain activations during anticipation and receipt of monetary losses in healthy controls...
2018: PeerJ
https://www.readbyqxmd.com/read/29760952/downregulation-of-the-psychiatric-susceptibility-gene-cacna1c-promotes-mitochondrial-resilience-to-oxidative-stress-in-neuronal-cells
#13
Susanne Michels, Goutham K Ganjam, Helena Martins, Gerhard M Schratt, Markus Wöhr, Rainer K W Schwarting, Carsten Culmsee
Affective disorders such as major depression and bipolar disorder are among the most prevalent forms of mental illness and their etiologies involve complex interactions between genetic and environmental risk factors. Over the past ten years, several genome wide association studies (GWAS) have identified CACNA1C as one of the strongest genetic risk factors for the development of affective disorders. However, its role in disease pathogenesis is still largely unknown. Vulnerability to affective disorders also involves diverse environmental risk factors such as perinatal insults, childhood maltreatment, and other adverse pathophysiological or psychosocial life events...
2018: Cell Death Discovery
https://www.readbyqxmd.com/read/29733917/clinical-equivalence-assessment-of-t2-synthesized-pediatric-brain-magnetic-resonance-imaging
#14
Basile Kerleroux, Tobias Kober, Tom Hilbert, Maxence Serru, Dominique Sirinelli, Baptiste Morel
BACKGROUND AND PURPOSE: Automated synthetic magnetic resonance imaging (MRI) provides qualitative, weighted image contrasts as well as quantitative information from one scan and is well-suited for various applications such as analysis of white matter disorders. However, the synthesized contrasts have been poorly evaluated in pediatric applications. The purpose of this study was to compare the image quality of synthetic T2 to conventional turbo spin echo (TSE) T2 in pediatric brain MRI...
May 4, 2018: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/29682076/neurocysticercosis-in-japan
#15
Victor Kwasi, Kunihiko Kodama, Toshiya Uchiyama, Yoshikazu Kusano, Toshiyuki Shimizu, Kazuo Tokushige, Toshiki Takemae
Neurocysticercosis is a condition rarely reported in Japan, and therefore, the specific route of infestation in our set up has not been conclusively elucidated. Preoperative diagnosis remains difficult to make with certainty due to the slowly evolving nature of the disease and the fact that there are no typical characteristic clinical findings particularly associated with the disease. The hematological, serological, serum biochemistry, stool, and radiological tests were nonspecific for neurocysticercosis. The characteristic neuro-imaging findings were demonstrated in this case, and histopathology confirmed Taenia solium parenchymal infestation...
April 2018: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29623601/effects-of-minimally-invasive-approaches-on-chronic-subdural-hematoma-by-novel-yl-1-puncture-needle-and-burr-hole-methods
#16
Min Xu, Wen-Hua Wang, Sheng-Qiang Zhu, Wei-Guo Tan, Xue-Gang Jin, Wei Lu, Long Chen
The objective of this study is to investigate effects of minimally invasive approaches on outcome of chronic subdural hematoma (CSDH) by novel YL-1 puncture needle and burr-hole methods. A retrospective analysis was performed in 158 hospitalized CSDH patients from January, 2013 to December, 2017 in Kunshan Hospital of Traditional Chinese Medicine. Patients' gender, age, history of trauma, volume of hematoma, hematoma location, application of urokinase, surgical approach, the operation time, hospitalized time, and CT scans 3 months after discharge were recorded...
April 5, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29467806/isolated-abducens-palsy-heralding-occult-human-immunodeficiency-virus-related-lymphoma
#17
Brandon J Baartman, Chrysavgi Adamopoulou
A 40-year-old African American man with recently diagnosed Human Immunodeficiency Virus (HIV) presented with isolated left abducens palsy. Initial neuro-imaging and laboratory evaluation, including cerebrospinal fluid (CSF) analysis, were unremarkable. Continued search for causative aetiology revealed systemic lymphoma diagnosed ultimately by bone marrow biopsy. Systemic lymphoma is commonly encountered in the HIV patient population, but presentation can be unusual and has been seen, albeit rarely, in the setting of isolated cranial neuropathy...
February 2018: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29463417/mri-as-a-biomarker-for-mild-neonatal-encephalopathy
#18
Brian H Walsh, Terrie E Inder
Historically, there has been limited neuro-imaging data acquired on infants with mild neonatal encephalopathy (NE). This likely reflects the traditional assumption that these infants had a universally good prognosis. As new evidence has emerged challenging this assumption, there has been a renewed interest in the neuro-imaging findings of these infants. To date, magnetic resonance imaging (MRI) studies in infants with mild NE have demonstrated abnormalities in 20-40% of cases suggestive that the injury occurs during the peripartum period with a predominant watershed pattern of injury...
February 17, 2018: Early Human Development
https://www.readbyqxmd.com/read/29459606/clinical-and-neuro-radiological-presentation-of-tuberous-sclerosis-complex-in-tertiary-care-centre
#19
G K Kundu, S Ahmed, S Akhter, M T Islam, T Dwa, A M Sabbir
Tuberous sclerosis complex (TSC) is a common neurocutaneous disorder characterized by hamartomatous changes in the lungs, brain, kidneys, skin, heart, and other organs. This retrospective study was done to see the clinical presentation and neuro imaging pattern of TSC in a tertiary care centre of Bangladesh and was conducted at Pediatric Neurology Unit of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2013 to December 2013. Among total 10 patients male-female ratio was 3:2...
January 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29434631/transcatheter-aortic-valve-replacement-and-stroke-a-comprehensive-review
#20
REVIEW
Periklis A Davlouros, Virginia C Mplani, Ioanna Koniari, Grigorios Tsigkas, George Hahalis
Transcatheter aortic valve implantation (TAVR) has emerged as an alternative, rapidly evolving treatment option for patients with severe aortic stenosis and high surgical risk. Stroke is a devastating complication being confined mainly in the periprocedural and 30-day period following TAVR, with a lower and relatively constant frequency thereafter. Early stroke is mainly due to debris embolization during the procedure, whereas later events are associated with patient specific factors. Despite the fact that the rate of clinical stroke has been constantly decreasing compared to initial TAVR experience, modern neuro-imaging with MRI suggests that new ischemic lesions post-TAVR are almost universal...
January 2018: Journal of Geriatric Cardiology: JGC
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