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Brain malformation

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https://www.readbyqxmd.com/read/28448044/generation-of-ipsc-derived-human-brain-organoids-to-model-early-neurodevelopmental-disorders
#1
Elke Gabriel, Jay Gopalakrishnan
The restricted availability of suitable in vitro models that can reliably represent complex human brain development is a significant bottleneck that limits the translation of basic brain research into clinical application. While induced pluripotent stem cells (iPSCs) have replaced the ethically questionable human embryonic stem cells, iPSC-based neuronal differentiation studies remain descriptive at the cellular level but fail to adequately provide the details that could be derived from a complex, 3D human brain tissue...
April 14, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28440899/lissencephaly-expanded-imaging-and-clinical-classification
#2
Nataliya Di Donato, Sara Chiari, Ghayda M Mirzaa, Kimberly Aldinger, Elena Parrini, Carissa Olds, A James Barkovich, Renzo Guerrini, William B Dobyns
Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1 (PAFAH1B1) and DCX. However, progress in molecular genetics has led to identification of 19 LIS-associated genes, leaving the existing classification system insufficient to distinguish the increasingly diverse patterns of LIS...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#3
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28440857/the-anterior-complex-a-visual-mnemonic-to-aid-in-identification-of-normal-structures
#4
Angela C Ranzini
The anterior complex of the fetal brain is a group of structures that are important to evaluate during the routine anatomic survey to exclude several serious brain malformations. These structures include the cavum septum pellucidum, anterior horns, interhemispheric fissure, callosal sulcus, and corpus callosum. The relationship between these structures is easily remembered with the presented visual cartoon. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound, 2017.
April 25, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28435116/chiari-malformation-type-1-a-systematic-review-of-natural-history-and-conservative-management
#5
REVIEW
Benjamin Langridge, Edward Phillips, David Choi
OBJECTIVE: Chiari type 1 malformations (CM-1) are variations of hind-brain development which can sometimes occur in asymptomatic individuals. Conventional treatment is surgical decompression, but little is known about the natural history of patients who do not undergo surgical management. Appreciation of this information is critical to determine how these patients should be managed. We conducted a systematic review of the literature to determine the natural history of CM-1 particularly in patients who did not undergo surgery, and in asymptomatic individuals, to help inform patients and doctors when surgery is likely to be beneficial...
April 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28431024/radiosurgery-for-unruptured-brain-arteriovenous-malformations-an-international-multicenter-retrospective-cohort-study
#6
Dale Ding, Robert M Starke, Hideyuki Kano, John Y K Lee, David Mathieu, John Pierce, Paul Huang, Symeon Missios, Caleb Feliciano, Rafael Rodriguez-Mercado, Luis Almodovar, Inga S Grills, Danilo Silva, Mahmoud Abbassy, Douglas Kondziolka, Gene H Barnett, L Dade Lunsford, Jason P Sheehan
BACKGROUND: The role of intervention in the management of unruptured brain arteriovenous malformations (AVM) is controversial. OBJECTIVE: To analyze in a multicenter, retrospective cohort study, the outcomes following radiosurgery for unruptured AVMs and determine predictive factors. METHODS: We evaluated and pooled AVM radiosurgery data from 8 institutions participating in the International Gamma Knife Research Foundation. Patients with unruptured AVMs and ≥12 mo of follow-up were included in the study cohort...
April 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28430292/failure-of-the-vascular-hypothesis-of-multiple-sclerosis-in-a-rat-model-of-chronic-cerebrospinal-venous-insufficiency
#7
Maha M A Zakaria, Shahira Y Mikhael, Azza K Abu Hussein, Rania A Salah El-Din, Hany W Abd El-Malak, Iman H Hewedi, Hany S Nadim
<i>Chronic cerebrospinal venous insufficiency (CCSVI) is a series of stenotic malformations in the cerebrospinal venous outflow routes, which is postulated to cause multiple sclerosis (MS). The hypotheses assumed that CCSVI leads to iron deposition which triggers inflammation and demyelination in MS. Invasive endovascular treatment of CCSVI was initiated based on the previous theory. The present study was designed to validate this hypothesis using a rat model of CCSVI. Bilateral jugular vein ligation (JVL) was performed on female albino rats (n = 15), and sham-operated rats (n = 15) were used as a control group...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28428665/brain-lesions-in-children-with-unilateral-spastic-cerebral-palsy
#8
Feriha Hadzagic-Catibusic, Edin Avdagic, Smail Zubcevic, Sajra Uzicanin
INTRODUCTION: Unilateral spastic cerebral palsy (US CP) is the second most common subtype of cerebral palsy. AIM: The aim of the study was to analyze neuroimaging findings in children with unilateral spastic cerebral palsy. MATERIAL AND METHODS: The study was hospital based, which has included 106 patients with US CP (boys 72/girls 34, term 82/preterm 24). Neuroimaging findings were classified into 5 groups: Brain maldevelopment, predominant white matter injury, predominant gray matter injury, non specific findings and normal neuroimaging findings...
February 2017: Medical Archives
https://www.readbyqxmd.com/read/28428218/gain-of-function-mutation-in-filamin-a-potentiates-platelet-integrin-%C3%AE-iib%C3%AE-3-activation
#9
Eliane Berrou, Frédéric Adam, Marilyne Lebret, Virginie Planche, Patricia Fergelot, Odile Issertial, Isabelle Coupry, Jean-Claude Bordet, Paquita Nurden, Dominique Bonneau, Estelle Colin, Cyril Goizet, Jean-Philippe Rosa, Marijke Bryckaert
OBJECTIVE: Dominant mutations of the X-linked filamin A (FLNA) gene are responsible for filaminopathies A, which are rare disorders including brain periventricular nodular heterotopia, congenital intestinal pseudo-obstruction, cardiac valves or skeleton malformations, and often macrothrombocytopenia. APPROACH AND RESULTS: We studied a male patient with periventricular nodular heterotopia and congenital intestinal pseudo-obstruction, his unique X-linked FLNA allele carrying a stop codon mutation resulting in a 100-amino acid-long FLNa C-terminal extension (NP_001447...
April 20, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28427848/early-outcomes-and-periprocedural-complications-of-transarterial-embolization-of-brain-arteriovenous-malformations-with-onyx-%C3%A2
#10
Wojciech Poncyljusz, Marcin Sawicki, Katarzyna Lubkowska, Monika Rać
BACKGROUND: Brain arteriovenous malformation (BAVM) is a rare pathology diagnosed mostly in young adults. However, due to its hemorrhagic complications, it constitutes an important clinical problem. Treatment modalities available include endovascular, surgery and radiosurgery. The aim of the study was to assess the efficacy and safety of endovascular treatment of BAVM with Onyx(®) by reporting one-center experience. MATERIAL AND METHODS: Between 2006 and 2013, 54 patients with BAVM were embolized with Onyx...
April 5, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28427592/pathologic-active-mtor-mutation-in-brain-malformation-with-intractable-epilepsy-leads-to-cell-autonomous-migration-delay
#11
Sae Hanai, Sayuri Sukigara, Hongmei Dai, Tomoo Owa, Shin-Ichi Horike, Taisuke Otsuki, Takashi Saito, Eiji Nakagawa, Naoki Ikegaya, Takanobu Kaido, Noriko Sato, Akio Takahashi, Kenji Sugai, Yuko Saito, Masayuki Sasaki, Mikio Hoshino, Yu-Ichi Goto, Schuichi Koizumi, Masayuki Itoh
The activation of phosphatidylinositol 3-kinase-AKTs-mammalian target of rapamycin cell signaling pathway leads to cell overgrowth and abnormal migration and results in various types of cortical malformations, such as hemimegalencephaly (HME), focal cortical dysplasia, and tuberous sclerosis complex. However, the pathomechanism underlying abnormal cell migration remains unknown. With the use of fetal mouse brain, we performed causative gene analysis of the resected brain tissues from a patient with HME and investigated the pathogenesis...
May 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28427119/-genetic-analysis-of-posterior-cranial-fossa-morphology-in-families-of-chiari-malformation-type-%C3%A2
#12
X X Yuan, Y Li, S F Sha, W X Sun, Y Qiu, Z Liu, W G Zhu, Z Z Zhu
Objective: To explore genetic characteristic of posterior cranial fossa morphology in families of Chiari malformation type Ⅰ (CMI). Methods: From April 2010 to May 2016, a total of 47 cases of CMI families (CMI group) and their 94 parents (CMI-P group)collected were retrospectively reviewed in Department of Spinal Surgery, Drum Tower Hospital, School of Medicine, Nanjing University.Another cohort of 50 asymptomatic adults was enrolled to serve as the control group.Patients with skull fracture or other diseases which can lead to secondary CMI were excluded...
April 18, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28424010/olfactory-development-part-1-function-from-fetal-perception-to-adult-wine-tasting
#13
Harvey B Sarnat, Laura Flores-Sarnat, Xing-Chang Wei
Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also documented by late prenatal and postnatal MRI. Olfactory axons project from nasal epithelium to telencephalon before olfactory bulbs form. Fetal olfactory maturation remains incomplete at term for neuronal differentiation, synaptogenesis, myelination, and persistence of the transitory fetal ventricular recess...
May 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#14
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421824/thrombosis-of-the-draining-vein-causes-intracranial-haemorrhage-in-the-natural-history-of-brain-arteriovenous-malformation-case-report
#15
Raita Fukaya, Katsuhiro Mizutani, Masahito Fukuchi, Koji Fujii
Rupture of arteriovenous malformations (AVM) may be caused by venous outflow restriction, but there is no radiographic evidence of this. We report a case showing only a venous thrombus preceding intracranial haemorrhage from AVM. This is the first evidence that venous thrombus results in AVM rupture in its natural history.
April 19, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28419337/targeted-embolization-of-aneurysms-associated-with-brain-arteriovenous-malformations-at-high-risk-for-surgical-resection-a-case-control-study
#16
Matthew D Alexander, Daniel S Hippe, Daniel L Cooke, Danial K Hallam, Steven W Hetts, Helen Kim, Michael T Lawton, Laligam N Sekhar, Louis J Kim, Basavaraj V Ghodke
BACKGROUND: High-risk components of brain arteriovenous malformations (BAVMs) can be targeted to reduce the risk of lesion rupture. OBJECTIVE: To evaluate targeted embolization of aneurysms against other means of treatment with a case-control analysis; we previously investigated this approach associated with BAVMs. METHODS: Retrospective analysis of patients with BAVMs was performed, identifying patients treated with intention to occlude only an aneurysm associated with a BAVM...
April 13, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28414573/phosphatidylserine-translocation-after-radiosurgery-in-an-animal-model-of-arteriovenous-malformation
#17
Newsha Raoufi Rad, Lucinda S McRobb, Zhenjun Zhao, Vivienne S Lee, Nirav J Patel, Anas Sarwar Qureshi, Michael Grace, Joshua J McHattan, Jude V Amal Raj, Hong Duong, Saleh R Kashba, Marcus A Stoodley
Phosphatidylserine (PS) is asymmetrically distributed across the plasma membrane, located predominantly on the inner leaflet in healthy cells. Translocation of PS to the outer leaflet makes it available as a target for biological therapies. We examined PS translocation after radiosurgery in an animal model of brain arteriovenous malformation (AVM). An arteriovenous fistula was created by end-to-side anastomosis of the left external jugular vein to the common carotid artery in 6-week-old, male Sprague Dawley rats...
April 17, 2017: Radiation Research
https://www.readbyqxmd.com/read/28413694/first-neonatal-demise-with-travel-associated-zika-virus-infection-in-the-united-states-of-america
#18
Nikolaos Zacharias, Janice Whitty, Sarah Noblin, Sophia Tsakiri, Jose Garcia, Michael Covinsky, Meenakshi Bhattacharjee, David Saulino, Nina Tatevian, Sean Blackwell
Zika virus is increasingly recognized as a fetal pathogen worldwide. We describe the first case of neonatal demise with travel-associated Zika virus infection in the United States of America, including a novel prenatal ultrasound finding. A young Latina presented to our health care system in Southeast Texas for prenatal care at 23 weeks of gestation. Fetal Dandy-Walker malformation, asymmetric cerebral ventriculomegaly, single umbilical artery, hypoechoic fetal knee, dorsal foot edema, and mild polyhydramnios were noted upon initial screening prenatal sonography at 26 weeks...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28406584/thick-corpus-callosum-in-children
#19
Aviv Schupper, Osnat Konen, Ayelet Halevy, Rony Cohen, Sharon Aharoni, Avinoam Shuper
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured...
April 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28399105/-treatment-of-syringomyelia-associated-with-chiari-1-malformation
#20
A A Zuev, G V Kostenko
Syringomyelia (SM) develops due to the disturbance of cerebrospinal fluid dynamics, spinal fixation or a spinal tumor. The disturbance of cerebrospinal fluid dynamics in the area of the foramen magnum leads to the progression of SM in Chiari 1 malformation (CM1). CM1 is the most prevalent pathology of craniovertebral junction associated with SM. The prevalence of CM1 varies from 3 to 8 per 100 000 population but SM is diagnosed in 65% of patients with CM1. Clinical symptoms of CM1 and SM include pain in the occipital area, gait disturbances due to sensitive ataxia, dissociated sensory disorders, dysphagia, paresis of the extremities...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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