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https://www.readbyqxmd.com/read/28933030/phenotype-comparison-confirms-zmynd11-as-a-critical-gene-for-10p15-3-microdeletion-syndrome
#1
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies...
September 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28931684/zika-virus-encoding-non-glycosylated-envelope-protein-is-attenuated-and-defective-in-neuroinvasion
#2
Arun S Annamalai, Aryamav Pattnaik, Bikash R Sahoo, Ezhumalai Muthukrishnan, Sathish Kumar Natarajan, David Steffen, Hiep L X Vu, Gustavo Delhon, Fernando A Osorio, Thomas M Petro, Shi-Hua Xiang, Asit K Pattnaik
Zika virus (ZIKV), a mosquito-transmitted flavivirus, responsible for sporadic outbreaks of mild and febrile illness in Africa and Asia, re-emerged in the last decade causing serious human diseases including microcephaly, congenital malformations, and Guillain-Barré syndrome. Although genomic and phylogenetic analyses suggest that genetic evolution may have led to enhanced virulence of ZIKV, experimental evidence supporting the role of specific genetic changes in virulence is currently outstanding. One sequence motif, VNDT, containing an N-linked glycosylation site in the envelope (E) protein, is polymorphic, being absent in many of the African isolates while present in all isolates from the recent outbreaks...
September 20, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28931341/the-neurotoxic-effects-of-prenatal-gabapentin-and-oxcarbazepine-exposure-on-newborn-rats
#3
Zuleyha Erisgin, Bulent Ayas, Jens R Nyengaard, N Ercument Beyhun, Yuksel Terzi
Teratogenicity is a problematic issue for pregnant women because of x-ray radiation, drugs, genetic and unknown variables. First generation antiepileptic drugs (AED) like valproic acid are well-known teratogens for developing foetuses. However, their usage is necessary in order to prevent maternal seizures. The underlying mechanism of birth defects associated with AED exposure remains unclear and information about the neurotoxic effects of prenatal exposure to AED is still limited. Oxcarbazepine (OXC) and gabapentin (GBP) are second generation antiepileptic drugs...
September 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28927913/association-of-acvrl1-genetic-polymorphisms-with-arteriovenous-malformations-a-case-control-study-and-meta-analysis
#4
Mingxu Ge, Chigang Du, Zhaona Li, Yingchao Liu, Shangchen Xu, Liyong Zhang, Qi Pang
OBJECTIVE: To investigate the association between polymorphisms in the gene encoding activin receptor-like kinase 1 (ACVRL1) with brain arteriovenous malformations (BAVMs) using a case-control study in a Chinese Han population, followed by a meta-analysis of the published literature. METHODS: This study focused on the genotypic analysis of four single nucleotide polymorphisms (SNPs; rs2071219, rs706819, rs2293094, and rs11169953) in 50 BAVM patients and 120 healthy volunteers attending Provincial Hospital in China...
September 16, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28926478/characterization-of-spontaneous-hydrocephalus-development-in-the-young-atherosclerosis-prone-mice
#5
Chuanguo Liu, Guorong Li, Pingping Wang, Yan Wang, Jie Pan
Little has been reported on whether abnormal lipid metabolism affects hydrocephalus, although congenital malformations and infectious diseases are major causal factors for hydrocephalus development. In a study on the pathogenesis of atherogenesis in mice, we unexpectedly discovered that hydrocephalus occurred in partial apolipoptotein E (apoE) and low-density lipoprotein receptor (LDLR) double-knockout (apoE/LDLR) mice fed either chow or a high-fat and high-cholesterol diet between the ages of 4 and 12 weeks...
September 18, 2017: Neuroreport
https://www.readbyqxmd.com/read/28924292/hemimegalencephaly-with-intractable-epilepsy-a-case-report
#6
Prem Chand, Muhammad Faraz Raghib, Muhammad Sohail Salat, Fazal Manzoor Arain
Isolated Hemimegalencephaly (iHME) is a rare form of congenital malformation of cortical development.It is characterized by enlargement of all or part of one cerebral hemisphere. It typically presents with intractable seizures, mental retardation, developmental delay, contralateral hemiparesis and hemianopia. The patient was a five and half month's old baby girl who presented first with focal seizures at 10th day of life. No other physical or behavioral abnormality was noted. However, Initial EEG showed excessive sharp EEG transients more over the right hemisphere, repeated EEG showed spikes, polyspikes, sharps and slow wave discharges predominately over right hemisphere...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28924182/an-in-vitro-model-of-lissencephaly-expanding-the-role-of-dcx-during-neurogenesis
#7
M Shahsavani, R J Pronk, R Falk, M Lam, M Moslem, S B Linker, J Salma, K Day, J Schuster, B-M Anderlid, N Dahl, F H Gage, A Falk
Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe neurological impairment and developmental delay. Mutations in the X-chromosomal gene DCX, encoding doublecortin, is the main cause of classical lissencephaly. Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient's brains, mainly since animal models with DCX mutations do not mimic the disease...
September 19, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28917584/pneumatoceles-in-pediatric-blunt-trauma-common-and-benign
#8
Lindsey B Armstrong, David P Mooney
INTRODUCTION: Traumatic pneumatoceles are reported to be rare in children and to have an uncertain clinical significance. We report a single institution series of traumatic pneumatoceles to better define their frequency and clinical significance. METHODS: After obtaining approval from the IRB, data were extracted from the trauma registry of a level 1 pediatric trauma center on children diagnosed with a pulmonary contusion (International Classification of Diseases-9th edition diagnosis codes: 861...
August 7, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28917252/stereotactic-radiosurgery-of-the-brain-a-review-of-common-indications
#9
Philip Gilbo, Isabella Zhang, Jonathan Knisely
Over the past half-century since Lars Leksell first utilized radiation to address deep and difficult to treat lesions of the central nervous system (CNS), intracranial stereotactic radiosurgery (SRS) has become an increasingly valued tool in the hands of neurosurgeons and radiation oncologists. Following developments in medical imaging and radiation technology, radiosurgery has evolved from its first application in movement disorders to widespread use for a varied range of malignant and benign conditions. SRS remains a powerful, minimally invasive instrument that offers additional options for intervention to a diverse patient population...
September 2017: Chinese Clinical Oncology
https://www.readbyqxmd.com/read/28899831/acquired-chiari-i-malformation-with-syringomyelia-secondary-to-colloid-cyst-with-hydrocephalus-case-report-and-review-of-literature
#10
Amit Kumar Thotakura, Nageswara R Marabathina
INTRODUCTION: Acquired Chiari malformation and associated syringomyelia have been previously described following lumbar puncture/drainage, lumboperitoneal shunts, and spontaneous CSF leakage. In addition to these etiologies, space-occupying lesions such as meningiomas, epidermoid cysts, medulloblastomas, and arachnoid cysts are rare causes of acquired Chiari malformation and syringomyelia. We report a rare case of colloid cyst with hydrocephalus causing secondary Chiari malformation with syringomyelia...
September 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28899007/the-spectrum-of-structural-and-functional-network-alterations-in-malformations-of-cortical-development
#11
Seok-Jun Hong, Boris C Bernhardt, Ravnoor S Gill, Neda Bernasconi, Andrea Bernasconi
Neuroimaging studies of malformations of cortical development have mainly focused on the characterization of the primary lesional substrate, while whole-brain investigations remain scarce. Our purpose was to assess large-scale brain organization in prevalent cortical malformations. Based on experimental evidence suggesting that distributed effects of focal insults are modulated by stages of brain development, we postulated differential patterns of network anomalies across subtypes of malformations. We studied a cohort of patients with focal cortical dysplasia type II (n = 63), subcortical nodular heterotopia (n = 44), and polymicrogyria (n = 34), and compared them to 82 age- and sex-matched controls...
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28893526/neural-correlates-of-working-memory-in-children-and-adolescents-with-agenesis-of-the-corpus-callosum-an-fmri-study
#12
V Siffredi, M M Spencer-Smith, P Barrouillet, M J Vaessen, R J Leventer, V Anderson, P Vuilleumier
The ability to temporarily maintain relevant information in mind in the presence of interference or distracting information, also called working memory (WM), is critical for higher cognitive functions and cognitive development. In typically developing (TD) children, WM is underpinned by a fronto-parietal network of interacting left and right brain regions. Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of corpus callosum formation...
September 9, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28892993/foetal-magnetic-resonance-images-of-two-cases-of-aicardi-syndrome
#13
Sebastián Gacio, Sebastián Lescano
Cerebral malformations are of fundamental importance in the clinical diagnosis of Aicardi Syndrome (AS). Some of these anomalies like callosal agenesis, cysts formation, posterior fossa anomalies and gross interhemispheric asymmetry are easily observed in the prenatal period with the use of foetal Magnetic Resonance Images (MRI). We present two cases of female newborns with cerebral MRI performed in the prenatal period and further diagnosed with AS. With the increase use of foetal MRI, AS will be easier suspected in the prenatal period in a female fetus with typical brain anomalies...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28892037/induction-and-micro-ct-imaging-of-cerebral-cavernous-malformations-in-mouse-model
#14
Jaesung P Choi, Xi Yang, Matthew Foley, Xian Wang, Xiangjian Zheng
Mutations in the CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation (CCM) in humans. Mouse models of CCM disease have been established by tamoxifen induced deletion of Ccm genes in postnatal animals. These mouse models provide invaluable tools to investigate molecular mechanism and therapeutic approaches for CCM disease. An accurate and quantitative method to assess lesion burden and progression is essential to harness the full value of these animal models. Here, we demonstrate the induction of CCM disease in a mouse model and the use of the contrast enhanced X-ray micro computed tomography (micro-CT) method to measure CCM lesion burden in mouse brains...
September 4, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28891898/vascular-anomalies-of-posterior-fossa-and-their-implications
#15
Rajani Singh, Raj Kumar, Arushi Kumar
Posterior fossa houses very vital and sensitive structures namely midbrain, pons, medulla, and cerebellum. These structures are irrigated by vertebral, posterior inferior cerebellar, anterior inferior cerebellar, and superior cerebellar arteries. Parts of brain located in posterior fossa control important parts of body so any variation pertaining to stenosis, atresia, hypoplasia, fenestration, agenesis, and duplication in the arteries supplying these parts alter the irrigation pattern culminating into various morbid and mortal neurologic disorders...
September 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28891434/histology-atlas-of-the-developing-prenatal-and-postnatal-mouse-central-nervous-system-with-emphasis-on-prenatal-days-e7-5-to-e18-5
#16
Vivian S Chen, James P Morrison, Myra F Southwell, Julie F Foley, Brad Bolon, Susan A Elmore
Evaluation of the central nervous system (CNS) in the developing mouse presents unique challenges, given the complexity of ontogenesis, marked structural reorganization over very short distances in 3 dimensions each hour, and numerous developmental events susceptible to genetic and environmental influences. Developmental defects affecting the brain and spinal cord arise frequently both in utero and perinatally as spontaneous events, following teratogen exposure, and as sequelae to induced mutations and thus are a common factor in embryonic and perinatal lethality in many mouse models...
January 1, 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/28886345/rac1-missense-mutations-in-developmental-disorders-with-diverse-phenotypes
#17
Margot R F Reijnders, Nurhuda M Ansor, Maria Kousi, Wyatt W Yue, Perciliz L Tan, Katie Clarkson, Jill Clayton-Smith, Ken Corning, Julie R Jones, Wayne W K Lam, Grazia M S Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald Cohn, David Chitayat, Tom H Millard, Nicholas Katsanis, Han G Brunner, Siddharth Banka
RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu), and c.470G>A (p...
September 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28883869/ataxia-in-childhood-epidemiological-clinical-and-neuroradiologic-features-and-the-risk-of-recurrence
#18
REVIEW
Mohsen Javadzadeh, Masoud Hassanvand Amouzadeh, Shaghayegh Sadat Esmail Nejad, Ezatollah Abasi, Abbas Alipour, Mohsen Mollamohammadi
OBJECTIVE: This study was conducted on the demographic data, clinical characteristics, electroencephalography, neuroradiological findings, and their impact on the recurrence of ataxia. MATERIALS & METHODS: A 3-yr retrospective review of 49 children with ataxia in Mofid Children Hospital, Tehran, Iran was conducted from Apr 2013 to Apr 2016. The demographic, clinical and paraclinical data were recorded in pre-prepared questionnaires. The patients were also classified in two groups of with or without recurrence and the results were compared...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28880999/stereo-eeg-diagnostic-and-therapeutic-tool-for-periventricular-nodular-heterotopia-epilepsies
#19
Laura Mirandola, Roberto F Mai, Stefano Francione, Veronica Pelliccia, Francesca Gozzo, Ivana Sartori, Lino Nobili, Francesco Cardinale, Massimo Cossu, Stefano Meletti, Laura Tassi
OBJECTIVE: Periventricular nodular heterotopias (PNHs) are malformations of cortical development related to neuronal migration disorders, frequently associated with drug-resistant epilepsy (DRE). Stereo-electroencephalography (SEEG) is considered a very effective step of the presurgical evaluation, providing the recognition of the epileptogenic zone (EZ). At the same time, via the intracerebral electrodes it is possible to perform radiofrequency thermocoagulation (SEEG-guided RF-TC) with the aim of ablating and/or disrupting the EZ...
September 7, 2017: Epilepsia
https://www.readbyqxmd.com/read/28878048/functional-impairments-for-outcomes-in-a-randomized-trial-of-unruptured-brain-avms
#20
J P Mohr, Jessica R Overbey, Ruediger von Kummer, Marco A Stefani, Richard Libman, Christian Stapf, Michael K Parides, John Pile-Spellman, Ellen Moquete, Claudia S Moy, Eric Vicaut, Alan J Moskowitz, Kirsty Harkness, Charlotte Cordonnier, Alessandra Biondi, Emmanuel Houdart, Joachim Berkefeld, Karin J M Klijn, Xavier Barreau, Helen Kim, Andreas Hartmann
OBJECTIVE: To investigate the effects of medical vs interventional management on functional outcome in A Randomized Trial of Unruptured Brain Arteriovenous Malformations (ARUBA). METHODS: We used the initial results of a nonblinded, randomized, controlled, parallel-group trial involving adults ≥18 years of age with an unruptured brain arteriovenous malformation (AVM) to compare the effects of medical management (MM) with or without interventional therapy (IT) on functional impairment, defined by a primary outcome of death or symptomatic stroke causing modified Rankin Scale (mRS) score ≥2...
September 6, 2017: Neurology
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