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https://www.readbyqxmd.com/read/29340742/-wilson-disease
#1
D Huster
Wilson disease is a rare hereditary disorder of copper metabolism. The genetic defect is caused by various mutations in the copper-transporting enzyme ATP7B, located mainly in the liver and brain. Clinical symptoms are highly variable, with any combination of hepatic and/or neurological or psychiatric manifestations. The age of onset varies from early childhood to young adults and can even be manifested in later ages. The clinical diagnosis is based on a combination of clinical, biochemical and molecular markers...
January 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29340569/associations-of-the-top-20-alzheimer-disease-risk-variants-with-brain-amyloidosis
#2
Liana G Apostolova, Shannon L Risacher, Tugce Duran, Eddie C Stage, Naira Goukasian, John D West, Triet M Do, Jonathan Grotts, Holly Wilhalme, Kwangsik Nho, Meredith Phillips, David Elashoff, Andrew J Saykin
Importance: Late-onset Alzheimer disease (AD) is highly heritable. Genome-wide association studies have identified more than 20 AD risk genes. The precise mechanism through which many of these genes are associated with AD remains unknown. Objective: To investigate the association of the top 20 AD risk variants with brain amyloidosis. Design, Setting, and Participants: This study analyzed the genetic and florbetapir F 18 data from 322 cognitively normal control individuals, 496 individuals with mild cognitive impairment, and 159 individuals with AD dementia who had genome-wide association studies and 18F-florbetapir positron emission tomographic data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), a prospective, observational, multisite tertiary center clinical and biomarker study...
January 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29340055/concurrent-brain-radiotherapy-and-egfr-tki-may-improve-intracranial-metastases-control-in-non-small-cell-lung-cancer-and-have-survival-benefit-in-patients-with-low-ds-gpa-score
#3
Yongmei Liu, Lei Deng, Xiaojuan Zhou, Youling Gong, Yong Xu, Lin Zhou, Jin Wan, Bingwen Zou, Yongsheng Wang, Jiang Zhu, Zhenyu Ding, Feng Peng, Meijuan Huang, Li Ren, Tim Lautenschlaeger, Feng-Ming Spring Kong, You Lu
Epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) has intracranial activity in EGFR-mutant Non-Small Cell Lung Cancer (NSCLC). The optimal timing of brain radiotherapy (RT) and appropriate patients who need early brain RT remains undetermined. This is a retrospective study of EGFR-mutant NSCLC patients with newly diagnosed brain metastases (BMs) before EGFR-TKI initiation. Intra-cranial progression free survival (IC-PFS) and overall survival (OS) were measured from the date of EGFR-TKI treatment...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29339320/primary-obstruction-of-the-foramen-of-luschka-anatomy-histology-and-clinical-significance
#4
Laszlo Barany, Gabor Baksa, Patonay Lajos, Gergely Racz, Oliver Ganslandt, Michael Buchfelder, Peter Kurucz
BACKGROUND: The foramen of Luschka is a natural aperture between the fourth ventricle and the subarachnoid space at the cerebellopontine angle (CPA). Membranous closure of this foramen is referred to as primary obstruction. The available information about this variant and its role in the development of the cysts of the posterior fossa are contradictory in the literature. METHODS: Sixty-one formalin-fixed human brains (122 foramina) were involved in this study. Both the macroscopic and the histological features of the obstructed foramina were examined...
January 12, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29339245/systematic-review-and-evaluation-of-aspartame-carcinogenicity-bioassays-using-quality-criteria
#5
REVIEW
Lois Haighton, Ashley Roberts, Brandon Walters, Barry Lynch
The current review assessed cancer studies of aspartame based on a quality appraisal using the Klimisch grading system. Nine studies having complete histopathology were included: three 2-year studies by Searle; three transgenic mice studies by the NTP; three lifetime studies by the Ramazzini Institute. A tenth study limited to brain tumors was not rated. None were determined as Klimisch Code 1 (reliable without restrictions). The Searle studies predated GLP standards but their methodology was comparable; transgenic mouse models are not validated, but are accepted as supporting data...
January 12, 2018: Regulatory Toxicology and Pharmacology: RTP
https://www.readbyqxmd.com/read/29338452/an-update-on-diagnostic-and-prognostic-biomarkers-for-traumatic-brain-injury
#6
Kevin K Wang, Zhihui Yang, Tian Zhu, Yuan Shi, Richard Rubenstein, J Adrian Tyndall, Geoff T Manley
Traumatic brain injury (TBI) is a major worldwide neurological disorder of epidemic proportions. To date, there are still no FDA-approved therapies to treat any forms of TBI. Encouragingly, there are emerging data showing that biofluid-based TBI biomarker tests have the potential to diagnose the presence of TBI of different severities including concussion, and to predict outcome. Area covered: The authors provide an update on the current knowledge of TBI biomarkers, including protein biomarkers for neuronal cell body injury (UCH-L1, NSE), astroglial injury (GFAP, S100B), neuronal cell death (αII-spectrin breakdown products), axonal injury (NF proteins), white matter injury (MBP), post-injury neurodegeneration (total Tau and phospho-Tau), post-injury autoimmune response (brain antigen-targeting autoantibodies), and other emerging non-protein biomarkers...
January 17, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29338107/how-often-is-the-diagnosis-of-the-permanent-vegetative-state-incorrect-a-review-of-the-evidence
#7
Derick T Wade
BACKGROUND: Some research suggests that 40% of people in the vegetative state are misdiagnosed. This review investigates the frequency, nature and causes of reported misdiagnosis of patients in the vegetative state, focusing on the nature of the error. METHOD: A systematic review of all relevant literature, using references from key papers identified. Data summarised in tables. RESULTS: Five clinical studies of rate of misdiagnosis in practice were identified, encompassing 236 patients in the vegetative state of whom 80 (34%) were reclassified has having some awareness, often minimal...
January 16, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29337595/outcome-of-extraocular-retinoblastoma-in-a-resource-limited-center-from-low-middle-income-country
#8
Gitika Pant, Nishant Verma, Archana Kumar, Vishal Pooniya, Sanjiv Kumar Gupta
Retinoblastoma (RB) is the most common ocular malignancy in children, and is managed by multimodal treatment. There is a paucity of data regarding the clinical profile and outcome of children with extraocular retinoblastoma from Low Middle Income Countries (LMIC) including India. Case records of children with newly diagnosed extraocular RB from January 2013 to August 2016 treated at our unit were analysed for clinical profile, treatment, and outcome. Over the 44 month study period, 91 children were diagnosed with RB, out of which 41 had extraocular disease...
January 16, 2018: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29337407/insufficient-sleep-syndrome-an-unrecognized-but-important-clinical-entity
#9
Jun Kohyama, Yuki Anzai, Makoto Ono, Ai Kishino, Keita Tamanuki, Kazuma Takada, Kento Inoue, Maho Horiuchi, Yoshiho Hatai
BACKGROUND: In the Tokyo Bay Urayasu Ichikawa Medical Centre, a sleep clinic for adults and children was established in August 2012. As few sleep clinics are available in Japan that are specifically for children, this clinic provides the opportunity to provide data on child patients who have been suffering from sleep problems and who visited the sleep clinic. METHODS: Records of patients who visited the sleep clinic at the Tokyo Bay Urayasu Ichikawa Medical Centre at the age of 20 years or younger on their first visit were retrospectively examined, and their initial and final diagnoses were examined...
January 16, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29337197/brain-perfusion-alterations-in-tick-borne-encephalitis-preliminary-report
#10
Zuzanna Tyrakowska-Dadełło, Eugeniusz Tarasów, Dariusz Janusek, Anna Moniuszko-Malinowska, Joanna Zajkowska, Sławomir Pancewicz
BACKGROUND: Magnetic resonance imaging (MRI) changes in Tick-borne encephalitis (TBE) are nonspecific and pathophysiologic mechanisms leading to their formation remain unclear. This study aimed to investigate brain perfusion in TBE patients using dynamic susceptibility contrast (DSC) MR perfusion imaging. METHODS: MRI scans were performed in 12 patients in the acute phase, 3-5days after TBE diagnosis, with conventional MR images and DSC-MRI perfusion studies. Cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT) and time to peak (TTP) parametric maps were created...
January 11, 2018: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/29337140/characteristics-and-prognostic-factors-for-patients-with-her2-overexpressing-breast-cancer-and-brain-metastases-in-the-era-of-her2-targeted-therapy-an-argument-for-earlier-detection
#11
Aki Morikawa, Rui Wang, Sujata Patil, Adi Diab, Jonathan Yang, Clifford A Hudis, Heather L McArthur, Kathryn Beal, Andrew D Seidman
BACKGROUND: Although brain metastases (BM) are associated with poor prognosis, patients with human epidermal growth factor receptor 2 (HER2) overexpressing (HER2+) breast cancer (BC) with BM who are treated with anti-HER2 therapy have a relatively longer survival after BM diagnosis compared with other subtypes and HER2+ patients previously untreated with anti-HER2 therapy. It is unclear if previously reported prognostic factors are applicable to patients with HER2+ BC in the era of HER2-targeted therapy...
December 21, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29336603/comparison-of-unlicensed-and-off-label-use-of-antipsychotics-prescribed-to-child-and-adolescent-psychiatric-outpatients-for-treatment-of-mental-and-behavioral-disorders-with-different-guidelines-the-china-food-and-drug-administration-versus-the-fda
#12
Xiuqing Zhu, Jinqing Hu, Bin Sun, Shuhua Deng, Yuguan Wen, Weijia Chen, Chang Qiu, Dewei Shang, Ming Zhang
OBJECTIVES: This study aims to compare the prevalence of unlicensed and off-label use of antipsychotics among child and adolescent psychiatric outpatients with guidelines proposed by the China Food and Drug Administration (CFDA) and the U.S. Food and Drug Administration (FDA), and to identify factors associated with inconsistencies between the two regulations. METHODS: A retrospective analysis of 29,326 drug prescriptions for child and adolescent outpatients from the Affiliated Brain Hospital of Guangzhou Medical University was conducted...
January 16, 2018: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/29336268/%C3%AE-naplastic-lymphoma-kinase-in-glioblastoma-detection-diagnostic-methods-and-therapeutic-options
#13
Theodosis Kalamatianos, Despoina Denekou, George Stranjalis, Evangelia Papadimitriou
BACKGROUND: Glioblastoma (GBM) is the most aggressive and common brain tumor in adults, currently lacking effective life-prolonging and recurrence-preventing therapy; median survival of GBM patients stands at only 14-16 months. Increasing lines of evidence indicate that Anaplastic lymphoma kinase (ALK), a druggable tyrosine kinase receptor over-expressed in GBM, represents a potential therapeutic target in this tumor. OBJECTIVE: An overview of the state of the art and the existing recent patents regarding potential exploitation of ALK as a therapeutic target and/or diagnostic/prognostic factor in GBM...
January 15, 2018: Recent Patents on Anti-cancer Drug Discovery
https://www.readbyqxmd.com/read/29336131/vestibular-schwannoma-and-ipsilateral-endolymphatic-hydrops-an-unusual-association
#14
Massimo Ralli, Antonio Greco, Giancarlo Altissimi, Rosaria Turchetta, Lucia Longo, Vittorio D'Aguanno, Mario Tombolini, Giancarlo Cianfrone, Marco de Vincentiis
Vestibular schwannoma and endolymphatic hydrops are two conditions that may present with similar audio-vestibular symptoms. The association of the two in the same patient represents an unusual finding that may lead clinicians to errors and delays in diagnosis and clinical management of affected subjects. We discuss the case of a patient with an intrameatal vestibular schwannoma reporting symptoms suggestive for ipsilateral endolymphatic hydrops. The patient presented with fluctuating hearing loss, tinnitus, and acute rotatory vertigo episodes, and underwent a full audiological evaluation and imaging of the brain with contrast-enhanced Magnetic Resonance Imaging...
December 1, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/29335889/comparison-of-gray-matter-volume-between-migraine-and-strict-criteria-tension-type-headache
#15
Wei-Ta Chen, Kun-Hsien Chou, Pei-Lin Lee, Fu-Jung Hsiao, David M Niddam, Kuan-Lin Lai, Jong-Ling Fuh, Ching-Po Lin, Shuu-Jiun Wang
BACKGROUND: Despite evidently distinct symptoms, tension-type headache (TTH) and migraine are highly comorbid and exhibit many similarities in clinical practice. The purpose of this study was to investigate whether both types of headaches are similar in brain morphology. METHODS: Consecutive patients with TTH and age- and sex-matched patients with migraine and healthy controls were enrolled for brain magnetic resonance imaging examination. Patients with TTH were excluded if they reported any headache features or associated symptoms of migraine...
January 15, 2018: Journal of Headache and Pain
https://www.readbyqxmd.com/read/29335643/decoding-musical-training-from-dynamic-processing-of-musical-features-in-the-brain
#16
Pasi Saari, Iballa Burunat, Elvira Brattico, Petri Toiviainen
Pattern recognition on neural activations from naturalistic music listening has been successful at predicting neural responses of listeners from musical features, and vice versa. Inter-subject differences in the decoding accuracies have arisen partly from musical training that has widely recognized structural and functional effects on the brain. We propose and evaluate a decoding approach aimed at predicting the musicianship class of an individual listener from dynamic neural processing of musical features...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29335438/grey-and-white-matter-volumes-either-in-treatment-na%C3%A3-ve-or-hormone-treated-transgender-women-a-voxel-based-morphometry-study
#17
Giancarlo Spizzirri, Fábio Luis Souza Duran, Tiffany Moukbel Chaim-Avancini, Mauricio Henriques Serpa, Mikael Cavallet, Carla Maria Abreu Pereira, Pedro Paim Santos, Paula Squarzoni, Naomi Antunes da Costa, Geraldo F Busatto, Carmita Helena Najjar Abdo
Many previous magnetic resonance imaging (MRI) studies have documented sex differences in brain morphology, but the patterns of sexual brain differences in transgender women - male sex assigned at birth - with a diagnosis of gender dysphoria (TW) have been rarely investigated to date. We acquired T1-weighted MRI data for the following four (n = 80) groups: treatment-naïve TW (TNTW), TW treated with cross-sex hormones for at least one year (TTW), cisgender men, and cisgender women (cisgender individuals as controls)...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29335079/-expression-of-plasma-mirna-497-in-children-with-sepsis-induced-myocardial-injury-and-its-clinical-significance
#18
Zhong-Jing Wu, Ya-Feng Chen, Hai-Dao Wang, Fang-Hong Gao
OBJECTIVE: To study the expression of plasma miRNA-497 in children with sepsis-induced myocardial injury and its clinical significance. METHODS: A total of 148 children with sepsis were enrolled. According to the presence or absence of myocardial injury, these children were divided into myocardial injury group (n=58) and non-myocardial injury group (n=90). The two groups were compared in terms of the changes in plasma levels of miRNA-497, cardiac troponin I (cTnI), creatine kinase-MB (CK-MB), N-terminal pro-brain natriuretic peptide (NT-proBNP), procalcitonin (PCT), and C-reactive protein (CRP) and left ventricular ejection fraction (LVEF)...
January 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29335023/early-neonatal-glutaric-aciduria-type-i-hidden-by-perinatal-asphyxia-a-case-report
#19
Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo
BACKGROUND: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Antepartum obstetric conditions, may, in turn, lead to hypoxic-ischemic damage to the fetus and the newborn, often underlying PA. Herein, a case of PA that hid and triggered signs and symptoms of Glutaric Aciduria type I (GA-I), is reported...
January 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29334996/italian-guidelines-on-the-assessment-and-management-of-pediatric-head-injury-in-the-emergency-department
#20
REVIEW
Liviana Da Dalt, Niccolo' Parri, Angela Amigoni, Agostino Nocerino, Francesca Selmin, Renzo Manara, Paola Perretta, Maria Paola Vardeu, Silvia Bressan
OBJECTIVE: We aim to formulate evidence-based recommendations to assist physicians decision-making in the assessment and management of children younger than 16 years presenting to the emergency department (ED) following a blunt head trauma with no suspicion of non-accidental injury. METHODS: These guidelines were commissioned by the Italian Society of Pediatric Emergency Medicine and include a systematic review and analysis of the literature published since 2005...
January 15, 2018: Italian Journal of Pediatrics
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