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https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#1
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28549074/cwdprnp-a-tool-for-cervid-prion-sequence-analysis-in-program-r
#2
William L Miller, W David Walter
Summary: Chronic wasting disease is a fatal neurological, disease caused by an infectious prion protein, which affects economically and ecologically important members of the family Cervidae. Single nucleotide polymorphisms within the prion protein gene have been linked to differential susceptibility to the disease in many species. Wildlife managers are seeking to determine the frequencies of disease-associated alleles and genotypes and delineate spatial genetic patterns. The CWDPRNP package, implemented in program R, provides a unified framework for analyzing prion protein gene variability and spatial structure...
May 26, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28541374/motor-function-and-incident-dementia-a-systematic-review-and-meta-analysis
#3
Jacqueline Kathleen Kueper, Mark Speechley, Navena Rebecca Lingum, Manuel Montero-Odasso
Background: cognitive and mobility decline are interrelated processes, whereby mobility decline coincides or precedes the onset of cognitive decline. Objective: to assess whether there is an association between performance on motor function tests and incident dementia. Methods: electronic database, grey literature and hand searching identified studies testing for associations between baseline motor function and incident dementia in older adults...
May 25, 2017: Age and Ageing
https://www.readbyqxmd.com/read/28541234/psychiatric-specialty-training-in-greece
#4
EDITORIAL
M Margariti, V Kontaxakis, D Ploumpidis
The reform and development of psychiatric services require, in addition to financial resources, reserves in specialized human resources. The role of psychiatrists in this process, and at reducing the consequences of mental morbidity is evident. Psychiatrists are required to play a multifaceted role as clinicians, as experts in multidisciplinary team environments and as advisors in the recognition of public needs in mental health issues, as teachers and mentors for students and other health professionals, as researchers in order to enrich our knowledge in the scientific field of psychiatry, and as public health specialists in the development of the mental health services system...
January 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/28540771/identifying-therapeutic-targets-for-alzheimer-s-disease-with-big-data
#5
Nilüfer Ertekin-Taner
Nilüfer Ertekin-Taner is a Professor of Neuroscience and Neurology at the Mayo Clinic, Jacksonville, FL, USA. A neurogeneticist and board-certified behavioral neurologist, she received her medical degree from Hacettepe University Medical School in Ankara, Turkey and her doctorate degree in Molecular Neuroscience from Mayo Graduate School. She completed her residency training in the Department of Neurology at Mayo Clinic in Rochester (MN, USA) and fellowship in Behavioral Neurology at Mayo Clinic in Jacksonville...
April 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/28540688/machine-learning-techniques-in-exploring-microrna-gene-discovery-targets-and-functions
#6
Sumi Singh, Ryan G Benton, Anurag Singh, Anshuman Singh
In recent years, the role of miRNAs in post-transcriptional gene regulation has provided new insights into the understanding of several types of cancers and neurological disorders. Although miRNA research has gathered great momentum since its discovery, traditional biological methods for finding miRNA genes and targets continue to remain a huge challenge due to the laborious tasks and extensive time involved. Fortunately, advances in computational methods have yielded considerable improvements in miRNA studies...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28539915/the-possible-role-of-helicobacter-pylori-infection-in-non-alcoholic-fatty-liver-disease
#7
REVIEW
Dan-Dan Cheng, Cong He, Hong-Hui Ai, Ying Huang, Nong-Hua Lu
Helicobacter pylori (H. pylori) which colonizes the stomach can cause a wide array of gastric disorders, including chronic gastritis, peptic ulcer, and gastric cancer. Recently, accumulating evidence has implicated H. pylori infection in extragastrointestinal diseases such as cardiovascular diseases, neurological disorders, and metabolic diseases. At the same time, many scholars have noted the relationship between H. pylori infection and non-alcoholic fatty liver disease (NAFLD). Despite the positive association between H...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28539734/honey-and-health-a-review-of-recent-clinical-research
#8
REVIEW
Saeed Samarghandian, Tahereh Farkhondeh, Fariborz Samini
Honey is one of the most appreciated and valued natural products introduced to humankind since ancient times. Honey is used not only as a nutritional product but also in health described in traditional medicine and as an alternative treatment for clinical conditions ranging from wound healing to cancer treatment. The aim of this review is to emphasize the ability of honey and its multitude in medicinal aspects. Traditionally, honey is used in the treatment of eye diseases, bronchial asthma, throat infections, tuberculosis, thirst, hiccups, fatigue, dizziness, hepatitis, constipation, worm infestation, piles, eczema, healing of ulcers, and wounds and used as a nutritious supplement...
April 2017: Pharmacognosy Research
https://www.readbyqxmd.com/read/28539210/design-and-testing-of-a-controlled-electromagnetic-spinal-cord-impactor-for-use-in-large-animal-models-of-acute-traumatic-spinal-cord-injury
#9
Rory J Petteys, Steven M Spitz, Hasan Syed, R Andrew Rice, Rachel Sarabia-Estrada, C Rory Goodwin, Daniel M Sciubba, Brett A Freedman
BACKGROUND: Spinal cord injury (SCI) causes debilitating neurological dysfunction and has been observed in warfighters injured in IED blasts. Clinical benefit of SCI treatment remains elusive and better large animal models are needed to assess treatment options. Here, we describe a controlled electromagnetic spinal cord impactor for use in large animal models of SCI. METHODS: A custom spinal cord impactor and platform were fabricated for large animals (e.g., pig, sheep, dog, etc...
May 20, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28538662/maternal-factors-that-induce-epigenetic-changes-contribute-to-neurological-disorders-in-offspring
#10
REVIEW
Avijit Banik, Deepika Kandilya, Seshadri Ramya, Walter Stünkel, Yap Seng Chong, S Thameem Dheen
It is well established that the regulation of epigenetic factors, including chromatic reorganization, histone modifications, DNA methylation, and miRNA regulation, is critical for the normal development and functioning of the human brain. There are a number of maternal factors influencing epigenetic pathways such as lifestyle, including diet, alcohol consumption, and smoking, as well as age and infections (viral or bacterial). Genetic and metabolic alterations such as obesity, gestational diabetes mellitus (GDM), and thyroidism alter epigenetic mechanisms, thereby contributing to neurodevelopmental disorders (NDs) such as embryonic neural tube defects (NTDs), autism, Down's syndrome, Rett syndrome, and later onset of neuropsychological deficits...
May 24, 2017: Genes
https://www.readbyqxmd.com/read/28537461/an-extensive-review-on-development-of-eeg-based-computer-aided-diagnosis-systems-for-epilepsy-detection
#11
Jagriti Saini, Maitreyee Dutta
Epilepsy is considered as fourth most prominent neurological disorder in the world that can affect people of all age groups. Currently, around 65 million people throughout the world are suffering from epilepsy. It is evident that electroencephalograph (EEG) signals are most commonly used for detection of epileptic seizures but today many modern techniques have been developed to analyze underlying features of these EEG signals. As EEG contains a large amount of complicated information, so many researchers are trying to develop automatic systems for complete feature extraction...
May 24, 2017: Network: Computation in Neural Systems
https://www.readbyqxmd.com/read/28537343/practice-patterns-for-spasticity-management-with-phenol-neurolysis
#12
Jay Karri, Manuel F Mas, Gerard E Francisco, Sheng Li
OBJECTIVE: To present practice patterns for phenol neurolysis procedures conducted for spasticity management. DESIGN: A retrospective review of 185 persons with spasticity who underwent phenol neurolysis procedures (n = 293) at an academic rehabilitation hospital and clinic. Patient demographics, concomitant spasticity treatments, and procedure relevant information were collected. RESULTS: The cohort included 71.9% males and 61.6% inpatient procedures...
May 24, 2017: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28536991/diffuse-midline-skull-base-meningiomas-identification-of-a-rare-and-aggressive-subgroup-of-meningiomas
#13
Matthieu Peyre, Loïc Feuvret, Marc Sanson, Soledad Navarro, Anne-Laure Boch, Hugues Loiseau, Michel Kalamarides
Skull base meningiomas may present as clinically aggressive tumors despite being histologically benign. Here we describe a clinico-radiological entity of diffuse midline skull base meningiomas responsible for several neurological morbidities, including hearing and vision loss, intracranial hypertension, secondary hydrocephalus and tonsillar herniation with spinal cord compression. Surgery and radiotherapy were ineffective in stopping the clinical course of those tumors. After targeted sequencing of known mutated genes in meningiomas, we discovered TRAF7 mutations in two out of four tumors, stressing the importance of focusing the research efforts of the meningioma community in understanding the mechanisms underlying TRAF7 related meningioma tumorigenesis...
May 23, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28536255/neuroprotective-effect-of-electroacupuncture-and-upregulation-of-hypoxia-inducible-factor-1%C3%AE-during-acute-ischaemic-stroke-in-rats
#14
Ce Li, Tingting Zhang, Kewei Yu, Hongyu Xie, Yulong Bai, Li Zhang, Yi Wu, Nianhong Wang
BACKGROUND: Acupuncture is a traditional method that has been widely used in various fields of medicine with therapeutic effect. However, evidence of effectiveness to support the application of electroacupuncture (EA) during the process of ischaemia is scarce. OBJECTIVES: To investigate dynamic changes in hypoxia-inducible factor (HIF)-1α expression as well as its association with neurological status in rats subjected to acute ischaemic stroke and EA intervention...
May 23, 2017: Acupuncture in Medicine: Journal of the British Medical Acupuncture Society
https://www.readbyqxmd.com/read/28535561/effectiveness-of-lateral-decubitus-position-for-preventing-post-dural-puncture-headache-a-meta-analysis
#15
Andres Zorrilla-Vaca, Jeetinder Kaur Makkar
BACKGROUND: Post-dural puncture headache (PDPH) is a relatively common complication of lumbar punctures for spinal anesthesia or neurologic diagnosis. For many years, a high number of drugs has been evaluated to treat PDPH, yet there is a minority to prevent this complication. The lateral decubitus position instead of sitting position during lumbar puncture has become an interesting approach because of its feasibility and patient satisfaction. OBJECTIVES: In this meta-analysis we hypothesized that lateral decubitus position is an effective manner to prophylactically reduce the incidence of PDPH...
May 2017: Pain Physician
https://www.readbyqxmd.com/read/28534666/human-aminoacyl-trna-synthetases-in-diseases-of-the-nervous-system
#16
Jana Ognjenović, Miljan Simonović
Aminoacyl-tRNA synthetases (AaRSs) are ubiquitously expressed enzymes that ensure accurate translation of the genetic information into functional proteins. These enzymes also execute a variety of non-canonical functions that are significant for regulation of diverse cellular processes and that reside outside the realm of protein synthesis. Associations between faults in AaRS-mediated processes and human diseases have been long recognized. Most recent research findings strongly argue that 10 cytosolic and 14 mitochondrial AaRSs are implicated in some form of pathology of the human nervous system...
May 23, 2017: RNA Biology
https://www.readbyqxmd.com/read/28534221/measuring-outcomes-in-adult-spinal-deformity-surgery-a-systematic-review-to-identify-current-strengths-weaknesses-and-gaps-in-patient-reported-outcome-measures
#17
REVIEW
Sayf S A Faraj, Miranda L van Hooff, Roderick M Holewijn, David W Polly, Tsjitske M Haanstra, Marinus de Kleuver
PURPOSE: Adult spinal deformity (ASD) causes severe disability, reduces overall quality of life, and results in a substantial societal burden of disease. As healthcare is becoming more value based, and to facilitate global benchmarking, it is critical to identify and standardize patient-reported outcome measures (PROMs). This study aims to identify the current strengths, weaknesses, and gaps in PROMs used for ASD. METHODS: Studies were included following a systematic search in multiple bibliographic databases between 2000 and 2015...
May 22, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28533943/etiology-and-treatment-of-amyotrophic-lateral-sclerosis
#18
Hernando Rafael, Juan Oscar David, Antonio Santiago Vilca
BACKGROUND: To date all researchers conclude that the etiology of Amyotrophic lateral sclerosis (ALS) is not known. On the contrary, since August 2009, we believe that disease is of ischemic origin in the anterior surface of the medulla oblongata. MATERIAL AND METHOD: We present our surgical experience into 45 patients with ALS (bulbar form in 36 cases and spinal form in 9). Preoperative MRI scans revealed microinfarcts in the medulla oblongata and/or cervical cord...
2017: American Journal of Neurodegenerative Disease
https://www.readbyqxmd.com/read/28533935/a-review-of-the-emerging-potential-therapy-for-neurological-disorders-human-embryonic-stem-cell-therapy
#19
REVIEW
Geeta Shroff, Jyoti Dhanda Titus, Rhea Shroff
The first human embryonic stem cell (hESC) line was developed in the late nineties. hESCs are capable of proliferating indefinitely and differentiate into all the three embryonic germ layers. Further, the differentiation of hESC lines into neural precursor cells and neurons, astrocytes and oligodendrocytes showed their potential in treating several incurable neurological disorders such as spinal cord injury (SCI), cerebral palsy (CP), Parkinson's disease (PD). In this review, we will discuss the global scenario of research and therapeutic use of hESCs in the treatment of neurological disorders...
2017: American Journal of Stem Cells
https://www.readbyqxmd.com/read/28532983/towards-the-goal-of-achieving-a-normal-duration-and-quality-of-life-after-fontan-operation-creation-of-the-international-fontan-interest-group-i-fig-an-international-collaborative-initiative-dedicated-to-improving-outcomes
#20
Yves d'Udekem, Jack Rychik
A growing population of patients are now surviving the Fontan procedure and face an uncertain future and a clear burden of disease. The best medical therapy and follow-up modalities for these patients have not yet been identified, indications for transplantation are unclear and we have not been successful in mechanically supporting their circulation. There has only been a limited number of trials to address these issues. An international group has now been created to launch the large scale multi-centric research needed to provide the best future to this growing population: the International Fontan Interest Group (I-FIG)...
May 11, 2017: International Journal of Cardiology
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