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https://www.readbyqxmd.com/read/30102487/clinical-findings-in-cases-with-9q-deletion-encompassing-the-9q21-11q21-32-region
#1
Esra Tuğ, M Ali Ergün, E Ferda Perçin
Tuğ E, Ergün MA, Perçin EF. Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region. Turk J Pediatr 2018; 60: 94-98. We report on a case with developmental delay and dysmorphic craniofacial features, and a novel~15.2 Mb interstitial deletion within 9q21.11q21.32 confirmed with array comparative genomic hybridization (aCGH). A twenty-two month old boy with inability to walk without support, absent speech, and attention deficit and hyperactivity disorder was seen in our clinic. His craniofacial examination revealed relative macrocephaly, facial asymmetry, frontal bossing, sparse medial eyebrows, hypertelorism, broad base to nose, smooth philtrum, large mouth, operated cleft lip and wide spaced teeth...
2018: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/30094942/-i-think-we-ve-had-a-health-screen-new-offshore-screening-new-refugee-health-guidelines-new-syrian-and-iraqi-cohorts-recommendations-reality-results-and-review
#2
Rachel C Heenan, Thomas Volkman, Simon Stokes, Shidan Tosif, Hamish Graham, Andrea Smith, David Tran, Georgia Paxton
AIM: To examine refugee health assessments in Syrian and Iraqi children in the context of changes to offshore immigration screening, updated Australian refugee health guidelines and the primary care refugee health model in Victoria. METHODS: This is a retrospective audit of Syrian and Iraqi children aged 0-17 years attending a specialist immigrant health service from January 2015 to September 2017. RESULTS: We saw 128 children (7 months-16 years, 64...
August 9, 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/30094167/a-functional-limitation-to-the-lower-limbs-affects-the-neural-bases-of-motor-imagery-of-gait
#3
Lucia Maria Sacheli, Laura Zapparoli, Matteo Preti, Carlo De Santis, Catia Pelosi, Nicola Ursino, Alberto Zerbi, Elena Stucovitz, Giuseppe Banfi, Eraldo Paulesu
Studies on athletes or neurological patients with motor disorders have shown a close link between motor experience and motor imagery skills. Here we evaluated whether a functional limitation due to a musculoskeletal disorder has an impact on the ability to mentally rehearse the motor patterns of walking, an overlearned and highly automatic behaviour. We assessed the behavioural performance (measured through mental chronometry tasks) and the neural signatures of motor imagery of gait in patients with chronic knee arthrosis and in age-matched, healthy controls...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/30082739/red-fox-genome-assembly-identifies-genomic-regions-associated-with-tame-and-aggressive-behaviours
#4
Anna V Kukekova, Jennifer L Johnson, Xueyan Xiang, Shaohong Feng, Shiping Liu, Halie M Rando, Anastasiya V Kharlamova, Yury Herbeck, Natalya A Serdyukova, Zijun Xiong, Violetta Beklemischeva, Klaus-Peter Koepfli, Rimma G Gulevich, Anastasiya V Vladimirova, Jessica P Hekman, Polina L Perelman, Aleksander S Graphodatsky, Stephen J O'Brien, Xu Wang, Andrew G Clark, Gregory M Acland, Lyudmila N Trut, Guojie Zhang
Strains of red fox (Vulpes vulpes) with markedly different behavioural phenotypes have been developed in the famous long-term selective breeding programme known as the Russian farm-fox experiment. Here we sequenced and assembled the red fox genome and re-sequenced a subset of foxes from the tame, aggressive and conventional farm-bred populations to identify genomic regions associated with the response to selection for behaviour. Analysis of the re-sequenced genomes identified 103 regions with either significantly decreased heterozygosity in one of the three populations or increased divergence between the populations...
August 6, 2018: Nature Ecology & Evolution
https://www.readbyqxmd.com/read/30079517/parent-report-instruments-for-assessing-feeding-difficulties-in-children-with-neurological-impairments-a-systematic-review
#5
REVIEW
Nurul Hazirah Jaafar, Azizah Othman, Noorizan A Majid, Sakinah Harith, Zamh Zabidi-Hussin
AIM: This study aimed to review the psychometric properties and clinical application of parent-report instruments that assess feeding difficulties in children with neurological impairments. METHOD: Papers were identified through five electronic databases based on 15 keywords and were included if they met the following criteria: published in English, described the implementation of parent-report instruments, and included children with neurological impairments (either in the report or a related study population)...
August 5, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/30075277/a-robust-multi-scale-approach-to-quantitative-susceptibility-mapping
#6
Julio Acosta-Cabronero, Carlos Milovic, Hendrik Mattern, Cristian Tejos, Oliver Speck, Martina F Callaghan
Quantitative Susceptibility Mapping (QSM), best known as a surrogate for tissue iron content, is becoming a highly relevant MRI contrast for monitoring cellular and vascular status in aging, addiction, traumatic brain injury and, in general, a wide range of neurological disorders. In this study we present a new Bayesian QSM algorithm, named Multi-Scale Dipole Inversion (MSDI), which builds on the nonlinear Morphology-Enabled Dipole Inversion (nMEDI) framework, incorporating three additional features: (i) improved implementation of Laplace's equation to reduce the influence of background fields through variable harmonic filtering and subsequent deconvolution, (ii) improved error control through dynamic phase-reliability compensation across spatial scales, and (iii) scalewise use of the morphological prior...
July 31, 2018: NeuroImage
https://www.readbyqxmd.com/read/30075220/synergistic-action-of-ursolic-acid-and-metformin-in-experimental-model-of-insulin-resistance-and-related-behavioural-alterations
#7
Ashish Mourya, Ansab Akhtar, Swati Ahuja, Sangeeta Pilkhwal Sah, Anil Kumar
Chronic restraint stress (CRS) is known to cause metabolic and neurological complications in a number of ways. Prolonged exposure to stress evident by increased corticosterone level led to impaired altered insulin signaling and oxidative stress in mice, in the present study. Impaired insulin signaling or insulin resistance was characterised by hyperglycemia, hyperinsulinemia, hyperlipidmia, hypoadiponectinemia, increased glycosylated hemoglobin and HOMA-IR. It was also associated with increased proinflammatory cytokine TNF-α levels...
July 31, 2018: European Journal of Pharmacology
https://www.readbyqxmd.com/read/30060797/anti-nmda-receptor-encephalitis-in-a-young-girl-with-altered-behaviour-and-abnormal-movements
#8
Usama Bin Zubair, Haris Majid
Autoimmune encephalitis is a rare central nervous system disorder in which the patient presents with neuropsychiatric symptoms. We herein present a case of anti-NMDA receptor encephalitis in which the patient initially presented in the psychiatric department. A 14-year girl was brought with complains of irritability, altered behaviour, abnormal movements, self biting, and decreased sleep for the past 10 days. Her condition deteriorated during the admission and she became mute, immobile, and drowsy. Her baseline investigations and CT scan brain were normal...
August 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/30056434/moving-stroke-rehabilitation-forward-the-need-to-change-research
#9
Caroline Winters, Gert Kwakkel, Erwin E H van Wegen, Rinske H M Nijland, Janne M Veerbeek, Carel G M Meskers
BACKGROUND: Stroke rehabilitation aims to reduce impairments and promote activity and participation among patients. A major challenge for stroke rehabilitation research is to develop interventions that can reduce patients' neurological impairments. Until now, there has been no breakthrough in this research field. To move stroke rehabilitation forward, we need more knowledge about underlying mechanisms that drive spontaneous (i.e., reactive) neurobiological recovery after stroke and factors that can be used to optimize its prediction early after stroke onset...
2018: NeuroRehabilitation
https://www.readbyqxmd.com/read/30049674/avoiding-diagnostic-delay-for-mucopolysaccharidosis-iiib-do-not-overlook-common-clues-such-as-wheezing-and-otitis-media
#10
Toshifumi Yodoshi, Thomas L Hurt
Mucopolysaccharidosis IIIB (MPS IIIB) is an autosomal recessive lysosomal storage disorder. In comparison to Hurler syndrome (MPS I) and Hunter syndrome (MPS II), characteristic facial and physical features tend to be milder and progression of neurological symptoms may initially be slower. Obvious neurological and behavioural symptoms may not appear until age 2-6 years, but once they begin, progression is relentless, leading to death by the early 20s. Although there is currently no known cure for MPS IIIB, enzyme replacement clinical trials are showing hope for delay in the progression of symptoms...
July 25, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/30040818/reducing-the-burden-of-dizziness-in-middle-aged-and-older-people-a-multifactorial-tailored-single-blind-randomized-controlled-trial
#11
Jasmine C Menant, Americo A Migliaccio, Daina L Sturnieks, Cameron Hicks, Joanne Lo, Mayna Ratanapongleka, Jessica Turner, Kim Delbaere, Nickolai Titov, Daniela Meinrath, Catherine McVeigh, Jacqueline C T Close, Stephen R Lord
BACKGROUND: Dizziness is common among older people and is associated with a cascade of debilitating symptoms, such as reduced quality of life, depression, and falls. The multifactorial aetiology of dizziness is a major barrier to establishing a clear diagnosis and offering effective therapeutic interventions. Only a few multidisciplinary interventions of dizziness have been conducted to date, all of a pilot nature and none tailoring the intervention to the specific causes of dizziness...
July 2018: PLoS Medicine
https://www.readbyqxmd.com/read/30036110/rlipostc-protects-against-cerebral-ischemia-through-improved-synaptogenesis-in-rats
#12
Yingli Wang, Zhaohui Zhang, Lei Zhang, Haoran Yang, Zhiqiang Shen
OBJECTIVE: Remote limb ischemic post-conditioning (RLIPostC) has been shown to be neuroprotective in cerebral ischemia, whereas the effect of RLIPostC on synaptogenesis remains elusive. In the present study, we investigated the effects of RLIPostC on synaptogenesis in an experimental stroke rat model. METHODS: Sprague-Dawley rats were subjected to left middle cerebral artery occlusion (MCAO) and were randomly divided into a control group, an RLIPostC group and a sham group...
July 23, 2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/30033428/report-ethanolic-ficus-carica-leaf-extract-supplementation-affects-the-behavior-of-male-albino-mice
#13
Maryam Ashfaq, Shahid Iqbal, Quratul-Ane Gillani, Furhan Iqbal
Ficus carica has been known for its medicinal benefits for the treatment of metabolic, cardiovascular and respiratory problems but little information is available regarding the effects of its leaf extracts on behavior. Present study was designed to report the effect of Ficus carica leaf extract on the selected aspects of male albino mouse behavior. Six week old male albino mice were orally treated for 14 days either with 100 mg/ml solvent/ Kg body weight of Ficus carica leaf extract or with commercially available saline solution (Otsuka, Pakistan)...
July 2018: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/30033062/the-role-of-trem2-in-alzheimer-s-disease-and-other-neurodegenerative-disorders
#14
REVIEW
Susana Carmona, Kathleen Zahs, Elizabeth Wu, Kelly Dakin, Jose Bras, Rita Guerreiro
Alzheimer's disease is a genetically complex disorder; rare variants in the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been shown to as much as triple an individual's risk of developing Alzheimer's disease. TREM2 is a transmembrane receptor expressed in cells of the myeloid lineage, and its association with Alzheimer's disease supports the involvement of immune and inflammatory pathways in the cause of the disease, rather than as a consequence of the disease. TREM2 variants associated with Alzheimer's disease induce partial loss of function of the TREM2 protein and alter the behaviour of microglial cells, including their response to amyloid plaques...
August 2018: Lancet Neurology
https://www.readbyqxmd.com/read/30031254/triclosan-toxicity-alters-behavioral-and-hematological-parameters-and-vital-antioxidant-and-neurological-enzymes-in-pangasianodon-hypophthalmus-sauvage-1878
#15
Vikas Kumar Sahu, Sutanu Karmakar, Saurav Kumar, S P Shukla, Kundan Kumar
Triclosan and its metabolites are detected in a diverse aquatic environment and are major concerns for various aquatic organisms. The present study investigated the impact of acute and sub-lethal exposure of triclosan on behaviour, activities of acetylcholinesterase and selected antioxidant enzymes, haematological and serum gas-electrolyte parameters of Pangasianodon hypophthalmus. The 96 h LC50 of triclosan for P. hypophthalmus was estimated as 1458 μg L-1 . Further, sub-lethal triclosan exposure to 1/15th (97 μg L-1 ), 1/10th (145 μg L-1 ) and 1/5th (291 μg L-1 ) of 96 h LC50 concentration for a period of 45 days lead to decrease in total erythrocyte count, haemoglobin content and packed cell volume of blood while total leukocyte count increased significantly (p < 0...
September 2018: Aquatic Toxicology
https://www.readbyqxmd.com/read/30019744/-a-boy-with-treatment-resistant-psychiatric-problems-x-linked-adrenoleukodystrophy
#16
L P A Voogd, C M M J F de Jong, M Thobokholt, L J J C Wagener-Schimmel, A X Rutten
In this case report we describe a 17-year-old boy with severe behavioural disorders, apathy and cognitive decline who was eventually diagnosed with X-linked adrenoleukodystrophy (x-ald). If a patient presents with a combination of psychiatric and neurological problems, metabolic diseases such as x-ald should be included in the differential diagnosis.
2018: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/30019501/what-is-dyslexia-an-exploration-of-the-relationship-between-teachers-understandings-of-dyslexia-and-their-training-experiences
#17
Cathryn Knight
Given that an estimated 5-10% of the worldwide population is said to have dyslexia, it is of great importance that teachers have an accurate understanding of what dyslexia is and how it effects their students. Using results from a large-scale survey of teachers in England and in Wales (N ≈ 2,600), this paper demonstrates that teachers held a basic understanding of dyslexia, based on the behavioural issues that it is associated with. Teachers lacked the knowledge of the biological (i.e., neurological) and cognitive (i...
July 17, 2018: Dyslexia: the Journal of the British Dyslexia Association
https://www.readbyqxmd.com/read/30014807/malaria-antimalaria-drugs-drug-parasite-interactions-and-the-brain-a-review-of-impacts-on-behaviour-neurochemistry-and-structure
#18
O J Onaolapo, A Y Onaolapo, O A Adeyeba
BACKGROUND: Recorded history shows that malaria has plagued mankind for centuries, if not millennia, with the disease infecting and affecting several body tissues, organs and systems; including the central nervous system. Cerebral malaria is a severe form of malaria that may be associated with acute and chronic general behavioural, neurological or neuropsychiatric manifestations. The observation that the use of certain antimalaria drugs may also be associated with behavioural, neurochemical and structural brain changes complicates the picture, as both the infection and its treatment may cause significant changes in brain structure/function and behaviour...
July 16, 2018: Central Nervous System Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/30010443/establishing-dimensionality-of-sexual-behaviours-in-patients-with-regional-brain-dysfunction
#19
Robert A Fieo, Hannah Silverman, Deirdre O'Shea, Masood Manoochehri, Jordan Grafman, Edward D Huey
OBJECTIVE: To develop a validated, caregiver-based measurement scale to assess sexual changes across several domains in a sample of 86 patients with penetrating traumatic brain injury (TBI) and 65 patients with neurodegeneration due to frontotemporal dementia and corticobasal syndrome. METHODS: A new measure, the Sexual Symptoms in Neurological Illness and Injury Questionnaire (SNIQ), was constructed. Dimensionality, monotonicity, item discrimination power, and scalability were evaluated using nonparametric Mokken item response theory (IRT) methodology...
July 16, 2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/30002818/dopamine-synergizes-with-caffeine-to-increase-the-heart-rate-of-daphnia
#20
Aman Kundu, Gyanesh Singh
Dopamine is a key neurotransmitter, and is widely used as a central nervous system (CNS) agent.  Dopamine plays an important role in humans, including a major role in reward and motivation behaviour. Several addictive drugs are well known to increase neuronal dopamine activity. We selected Daphnia , an important model organism, to investigate the effect(s) of selected CNS agents on heart rate. Dopamine's effects on Daphnia 's heart has not been previously reported. Caffeine is a well-known and widely consumed stimulant...
2018: F1000Research
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