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https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#1
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
BACKGROUND: Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28544918/senior-driving-under-the-influence-a-five-year-retrospective-study-of-alcoholized-road-users-aged-70-and-over
#2
Benjamin Kirsch, Christoph G Birngruber, Reinhard Dettmeyer
The demographic development in Germany shows a steady increase to senior citizens. The driving suitability of older road-users is of large social and political concern, because awareness and reactivity can be influenced by age-related diseases and potential medication, particularly in combination with the consumption of alcohol. This study provides an overview of senior road-users under the influence of alcohol. Therefore, 404 cases of drunken-driving by road-users aged 70 and over within the purview of the Institute of Legal Medicine at Justus-Liebig-University, Giessen, from the years 2009-2013 were evaluated in retrospect...
May 10, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28544558/psychiatric-and-physical-comorbidities-and-their-impact-on-the-course-of-bipolar-disorder-a-prospective-naturalistic-4-year-follow-up-study
#3
Benedikt L Amann, Joaquim Radua, Christian Wunsch, Barbara König, Christian Simhandl
OBJECTIVES: The aim of the present study was to increase the available evidence on how physical and psychiatric comorbidities influence the long-term outcome in bipolar I and II disorder. METHODS: We examined the prevalence of comorbid physical (metabolic, cardiovascular, thyroid, and neurological) diseases and psychiatric (neurotic, stress-related, somatoform, and personality) disorders and their impact on the risk of relapse in bipolar disorder. A total of 284 consecutively admitted patients with ICD-10 bipolar I (n=161) and II (n=123) disorder were followed up naturalistically over a period of 4 years...
May 22, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/28543935/neurodegeneration-in-ataxia-telangiectasia-multiple-roles-of-atm-kinase-in-cellular-homeostasis
#4
REVIEW
Kay Rui Choy, Dianne J Watters
Ataxia-Telangiectasia (A-T) is characterized by neuronal degeneration, cancer, diabetes, immune deficiency and increased sensitivity to ionizing radiation. A-T is attributed to the deficiency of the protein kinase coded by the ATM (Ataxia-Telangiectasia Mutated) gene. ATM is a sensor of DNA Double Strand Breaks and signals to cell cycle checkpoints and the DNA repair machinery. ATM phosphorylates numerous substrates and activates many cell-signalling pathways. There has been considerable debate about whether a defective DNA damage response is causative of the neurological aspects of the disease...
May 22, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28543916/hcv-rna-genomic-sequences-and-hcv-e2-glycoprotein-in-sural-nerve-biopsies-from-hcv-infected-patients-with-peripheral-neuropathy
#5
Sabino Russi, Domenico Sansonno, Salvatore Monaco, Sara Mariotto, Sergio Ferrari, Fabio Pavone, Gianfranco Lauletta, Franco Dammacco
AIMS: Peripheral neuropathy (PN), the major neurological complication of chronic HCV infection, is frequently associated with mixed cryoglobulinemia (MC) and small-vessel systemic vasculitis. While humoral and cell-mediated immune mechanisms are suspected to act together in an aberrant immune response that results in peripheral nerve damage, the role of HCV remains largely speculative. The possible demonstration of HCV in peripheral nerve tissue would obviously assume important pathogenic implications...
May 24, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28542676/detailed-clinical-phenotype-and-molecular-genetic-findings-in-cln3-associated-isolated-retinal-degeneration
#6
Cristy A Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert Kayton, Douglas Weeks, Glenn W Anderson, Ryan Geraets, Camille Parker, David A Pearce, Michel Michaelides, Robert E MacLaren, Anthony G Robson, Graham E Holder, Elise Heon, F Lucy Raymond, Anthony T Moore, Andrew R Webster, Mark E Pennesi
Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported...
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28542277/first-report-of-a-japanese-family-with-spinocerebellar-ataxia-type-10-the-second-report-from-asia-after-a-report-from-china
#7
Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment...
2017: PloS One
https://www.readbyqxmd.com/read/28541850/repeat-head-ct-not-necessary-for-patients-with-a-negative-initial-head-ct-on-anticoagulation-or-antiplatelet-therapy-suffering-low-altitude-falls
#8
Zachary M Bauman, John M Ruggero, Sunny Squindo, Chris McEachin, Michelle Jaskot, Will Ngo, Scott Barnes, Peter P Lopez
Anticoagulation and antiplatelet (ACAP) medications are increasingly prescribed to patients at high risk for falls. Many trauma centers have developed protocols for obtaining repeat head CT (HCT) for patients with low-altitude falls on ACAP therapy. We assess the need for routine scheduled repeat HCT in this population. Prospective, observational analysis of all low-altitude fall (<6 feet) patients on ACAP therapy evaluated at a Level II trauma center. All low-altitude fall patients with visible or suspected head trauma received an initial HCT...
May 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28541420/surgical-decompression-of-high-grade-spinal-cord-compression-from-hormone-refractory-metastatic-prostate-cancer
#9
Muhammad Omar Chohan, Sweena Kahn, Gustav Cederquist, Anne S Reiner, Joseph Schwab, Ilya Laufer, Mark Bilsky
BACKGROUND: Spine and nonspine skeletal metastases occur in more than 80% of patients with prostate cancer. OBJECTIVE: To examine the characteristics of the patient population undergoing surgery for the treatment of prostate cancer metastatic to the spine. METHODS: A retrospective chart review was performed on all patients treated at our institution from June 1993 to August 2014 for surgical management of metastatic spine disease from prostate cancer...
May 24, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28540905/tuberous-sclerosis-complex-bourneville-pringle-disease-in-a-25-year-old-female-with-bilateral-renal-angiomyolipoma-and-secondary-hypertension
#10
Sahar El Aoud, Faten Frikha, Mouna Snoussi, Raida Ben Salah, Zouhir Bahloul
Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs. It is characterized by skin and renal lesions in addition to central and peripheral nervous system tumors, with neurological and psychiatric findings. We report such a rare case of tuberous sclerosis in a 25-year-old female who presented with abdominal pain and hypertension. Physical examination showed dermatological signs that included hypopigmented maculae, shagreen plaque, angiofibromas on the centrofacial areas, periungual fibromas on toes, and molluscum pendulum around the neck...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28539900/learning-potential-in-narrative-writing-measuring-the-psychometric-properties-of-an-assessment-tool
#11
Léia G Gurgel, Mônica M C de Oliveira, Maria C R A Joly, Caroline T Reppold
Objective: The Computerized and Dynamic Writing Test (TIDE) is designed to examine the learning potential of adolescents in narrative writing. This was a validation study of the TIDE based on its internal structure. Learning potential is responsible for cognitive modifiabilty according to the Theory of Cognitive Structural Modifiability (CSM) developed by Feüerstein. Method: Included 304 participants between 10 and 17 years of age from schools in the South of Brazil. The data collection involved student groups that were divided according to age and school grade...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28538596/acute-and-hyper-acute-thoracolumbar-corpectomy-for-traumatic-burst-fractures-using-a-mini-open-lateral-approach
#12
William D Smith, Nick Ghazarian, Ginger Christian
STUDY DESIGN: Retrospective chart review. OBJECTIVE: The study purpose was to examine the feasibility of acute (<24 hours) and hyper-acute (<8 hours) treatment of thoracolumbar burst fractures to maintain or improve spinal injury scores. SUMMARY OF BACKGROUND DATA: Historically, treatment of spinal burst fractures within 24 hours from injury was considered an "acute" treatment timeframe. Patient polytrauma triage, multiple surgical specialty and hospital resource coordination affect time to treatment...
May 22, 2017: Spine
https://www.readbyqxmd.com/read/28537352/is-pseudotumor-cerebri-an-unusual-expression-of-chiari-syndrome-a-case-report-and-review-of-the-literature
#13
Paolo Pacca, Roberto Altieri, Francesco Zenga, Diego Garbossa, Alessandro Ducati, Michele Lanotte
The Chiari I malformation (CM-I) is a developmental alteration of the posterior cranial fossa (PCF), radiographically defined as the descent of the cerebellar tonsils = 5 mm below the foramen magnum (FM) inside the cervical canal. Headache is the most frequent symptom associated with CM-I. The association of CM-I and neurological symptoms configures with Chiari syndrome. A rare symptom associated with Chiari syndrome is intracranial hypertension syndrome with cephalea and papilloedema-the typical findings of pseudotumor cerebri (PTC)...
May 24, 2017: Surgical Technology International
https://www.readbyqxmd.com/read/28536800/causes-and-preventive-measures-of-symptomatic-spinal-epidural-haematoma-after-spinal-surgery
#14
Xiao-Jun Zeng, Wei Wang, Zhou Zhao, Ming Li
STUDY DESIGN: This was a retrospective study to evaluate clinical characteristics of patients who developed symptomatic spinal epidural haematoma (SSEH) after spinal surgery. OBJECTIVE: The objective was to determine clinical parameters associated with the development of SSEH after spinal surgery, and to discuss clinical management and possible preventive measures. Although the incidence rate of SSEH is low, the neurological sequelae are devastating. There are limited reports which identify risk factors for SSEH because of the rarity of the condition...
May 24, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28536273/metal-transporter-zip14-slc39a14-deletion-in-mice-increases-manganese-depositionnd-produces-neurotoxic-signaturesnd-diminished-motorctivity
#15
Tolunay Bekerydemir, Min-Hyun Kim, Jinhee Kim, Luis M Colon-Perez, Guita Banan, Thomas H Mareci, Marcelo Febo, Robert J Cousins
Mutations in human ZIP14 have been linked to symptoms of early onset of Parkinsonismnd Dystonia. This phenotype is likely related to excess manganeseccumulation in the central nervous system. The metal transporter ZIP14 (SLC39A14) is viewed primarilys zinc transporter that is inducible via proinflammatory stimuli. In vitro evidence shows that ZIP14 canlso transport manganese. To examine role for ZIP14 in manganese homeostasis, we used Zip14 knockout (KO) malend female mice to conduct comparative metabolic, imagingnd functional studies...
May 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28535586/an-experimental-infarct-targeting-the-internal-capsule-histopathological-and-ultrastructural-changes
#16
Chang-Woo Han, Kyung-Hwa Lee, Myung Giun Noh, Jin-Myung Kim, Hyung-Seok Kim, Hyung-Sun Kim, Ra Gyung Kim, Jongwook Cho, Hyoung-Ihl Kim, Min-Cheol Lee
BACKGROUND: Stroke involving the cerebral white matter (WM) has increased in prevalence, but most experimental studies have focused on ischemic injury of the gray matter. This study was performed to investigate the WM in a unique rat model of photothrombotic infarct targeting the posterior limb of internal capsule (PLIC), focusing on the identification of the most vulnerable structure in WM by ischemic injury, subsequent glial reaction to the injury, and the fundamental histopathologic feature causing different neurologic outcomes...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28535561/effectiveness-of-lateral-decubitus-position-for-preventing-post-dural-puncture-headache-a-meta-analysis
#17
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/28535498/can-dmco-detect-visual-field-loss-in-neurological-patients-a-secondary-validation-study
#18
Ane Sophie Olsen, Alvilda Thougaard Steensberg, Morten la Cour, Troels Wesenberg Kjaer, Bertil Damato, Lars Hageman Pinborg, Miriam Kolko
Unrecognized visual field loss is caused by a range of blinding eye conditions as well as serious brain diseases. The commonest cause of asymptomatic visual field loss is glaucoma. No screening tools have been proven cost-effective. Damato Multifixation Campimetry Online (DMCO), an inexpensive online test, has been evaluated as a future cost-beneficial tool to detect glaucoma. To further validate DMCO, this study aimed to test DMCO in a preselected population with neurological visual field loss. METHODS: The study design was an evaluation of a diagnostic test...
May 24, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28535434/course-and-predictors-of-dsm-5-somatic-symptom-disorder-in-patients-with-vertigo-and-dizziness-symptoms-a-longitudinal-study
#19
Karina Limburg, Heribert Sattel, Andreas Dinkel, Katharina Radziej, Sandra Becker-Bense, Claas Lahmann
BACKGROUND: Somatic symptom disorder (SSD) is a diagnosis that was newly included in DSM-5. Currently, data on the course of SSD are largely lacking. The present study aimed to evaluate the natural course of SSD in a one-year follow-up study in patients with vertigo and dizziness (VD) symptoms. METHODS: We investigated n=239 outpatients presenting in a tertiary care neurological setting over a one-year period. Patients had a medical examination at baseline and completed self-report questionnaires, which were re-assessed after 12months...
May 12, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28534662/neuroprotection-of-brain-permeable-iron-chelator-vk-28-against-intracerebral-hemorrhage-in-mice
#20
Qian Li, Jieru Wan, Xi Lan, Xiaoning Han, Zhongyu Wang, Jian Wang
Iron overload plays a key role in the secondary brain damage that develops after intracerebral hemorrhage (ICH). The significant increase in iron deposition is associated with the generation of reactive oxygen species (ROS), which leads to oxidative brain damage. In this study, we examined the protective effects of VK-28, a brain-permeable iron chelator, against hemoglobin toxicity in an ex vivo organotypic hippocampal slice culture (OHSC) model and in middle-aged mice subjected to an in vivo, collagenase-induced ICH model...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
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