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https://www.readbyqxmd.com/read/28816935/perimesencephalic-nonaneurysmal-subarachnoid-hemorrhage-caused-by-transverse-sinus-thrombosis-a-case-report-and-review-of-literature
#1
Fang-Wang Fu, Jie Rao, Yuan-Yuan Zheng, Liang Song, Wei Chen, Qi-Hui Zhou, Jian-Guang Yang, Jiang-Qiong Ke, Guo-Qing Zheng
RATIONALE: Perimesencephalic nonaneurysmal subarachnoid hemorrhage (PNSAH) is characterized by a pattern of extravasated blood restricted to the perimesencephalic cisterns, normal angiographic findings, and an excellent prognosis with an uneventful course and low risks of complication. The precise etiology of bleeding in patients with PNSAH has not yet been established. The most common hypothesis is that PNSAH is venous in origin. Intracranial venous hypertension has been considered as the pivotal factor in the pathogenesis of PNSAH...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#2
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28811646/pafah1b1-haploinsufficiency-disrupts-gaba-neurons-and-synaptic-e-i-balance-in-the-dentate-gyrus
#3
Matthew T Dinday, Kelly M Girskis, Sunyoung Lee, Scott C Baraban, Robert F Hunt
Hemizygous mutations in the human gene encoding platelet-activating factor acetylhydrolase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical development. Children with this disorder suffer from deficits in neuronal migration, severe intellectual disability, intractable epilepsy and early death. While many of these features can be reproduced in Pafah1b1(+/-) mice, the impact of Pafah1b1(+/-) on the function of individual subpopulations of neurons and ultimately brain circuits is largely unknown...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28810087/multiple-pulmonary-arteriovenous-malformations-an-unusual-cause-of-shortness-of-breath-and-recurrent-strokes
#4
Kalyan C Potu, Shenjing Li, Shawn C Kelly, Julia A Prescott-Focht, Scott Pham
OBJECTIVE: To discuss an uncommon case of a patient with multiple pulmonary arteriovenous malformations (PAVMs) presenting with dyspnea on exertion and recurrent strokes. BACKGROUND: A 79-year-old woman with recent onset recurrent cerebrovascular accidents (CVAs) was referred to cardiology for evaluation of dyspnea on exertion. Clinical examination was unrevealing. METHODS: A transthoracic echocardiogram (TTE) with agitated saline was suggestive of an extra-cardiac shunt...
February 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28807454/reconsidering-olfactory-bulb-magnetic-resonance-patterns-in-kallmann-syndrome
#5
Thomas Hacquart, Aïcha Ltaief-Boudrigua, Cécile Jeannerod, Salem Hannoun, Gérald Raverot, Michel Pugeat, Aude Brac de la Perriere, Véronique Lapras, Frédérique Nugues, Catherine Dode, Francois Cotton
OBJECTIVE: The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. METHODS: Magnetic resonance brain patterns were retrospectively studied in 19 patients clinically classified as KS. Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and width, sulcus depth and ethmoid angle...
August 11, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28804779/language-mapping-using-t2-prepared-bold-functional-mri-in-the-presence-of-large-susceptibility-artifacts-initial-results-in-patients-with-brain-tumor-and-epilepsy
#6
Jun Hua, Xinyuan Miao, Shruti Agarwal, Chetan Bettegowda, Alfredo Quiñones-Hinojosa, John Laterra, Peter C M Van Zijl, James J Pekar, Jay J Pillai
At present, presurgical functional mapping is the most prevalent clinical application of functional magnetic resonance imaging (fMRI). Signal dropouts and distortions caused by susceptibility effects in the current standard echo planar imaging (EPI)-based fMRI images are well-known problems and pose a major hurdle for the application of fMRI in several brain regions, many of which are related to language mapping in presurgical planning. Such artifacts are particularly problematic in patients with previous surgical resection cavities, craniotomy hardware, hemorrhage, and vascular malformation...
June 2017: Tomography: a Journal for Imaging Research
https://www.readbyqxmd.com/read/28802071/microrna-137-and-195-inhibit-vasculogenesis-in-brain-arteriovenous-malformations
#7
Jun Huang, Jianping Song, Meijie Qu, Yang Wang, Qinzhu An, Yaying Song, Wei Yan, Bingshun Wang, Xiaojin Wang, Song Zhang, Xi Chen, Bing Zhao, Peixi Liu, Tongyi Xu, Zhijun Zhang, David A Greenberg, Yongting Wang, Pingjin Gao, Wei Zhu, Guo-Yuan Yang
OBJECTIVES: Brain arteriovenous malformations (AVMs) are the most common cause of non-traumatic intracerebral hemorrhage in young adults. The genesis of brain AVM remains enigmatic. We investigated microRNA (miRNA) expression and its contribution to the pathogenesis of brain AVMs. METHODS: We used a large-scale miRNA analysis on 16 samples including AVMs, hemangioblastoma, and controls to identify a distinct AVM miRNA signature. AVM smooth muscle cells (AVMSMCs) were isolated and identified by flow cytometry and immunohistochemistry and candidate miRNAs were then tested in these cells...
August 12, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28796762/notes-from-the-field-zika-virus-associated-neonatal-birth-defects-surveillance-texas-january-2016-july-2017
#8
Noemi Borsay Hall, Kelly Broussard, Nicole Evert, Mark Canfield
On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies...
August 11, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28796572/endoglin-and-alk1-as-therapeutic-targets-for-hereditary-hemorrhagic-telangiectasia
#9
Lidia Ruiz-Llorente, Eunate Gallardo-Vara, Elisa Rossi, David M Smadja, Luisa M Botella, Carmelo Bernabeu
Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated by mutations in genes whose encoded proteins are involved in the transforming growth factor β (TGF-β) family signalling of vascular endothelial cells. In spite of the great advances in the diagnosis as well as in the molecular, cellular and animal models of HHT, the current treatments remain just at the palliative level...
August 10, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28791777/mutations-in-the-katnb1-gene-cause-left-right-asymmetry-and-heart-defects
#10
M B Furtado, D J Merriner, S Berger, D Rhodes, D Jamsai, M K O'Bryan
BACKGROUND: The microtubule-severing protein complex katanin is composed two subunits, the ATPase subunit, KATNA1, and the non-catalytic regulatory subunit, KATNB1. Recently, the Katnb1 gene has been linked to infertility, regulation of centriole and cilia formation in fish and mammals, as well as neocortical brain development. KATNB1 protein is expressed in germ cells in humans and mouse, mitotic/meiotic spindles and cilia, although the full expression pattern of the Katnb1 gene has not been described...
August 9, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28782324/congenital-perisylvian-syndrome-presenting-as-post-partum-seizures-with-preeclampsia
#11
Arun Agarwal, Manju Goyal, Jainendra Jain, Aakanksha Agarwal
Whether preceded by preeclampsia, or occuring without antecedent warning symptoms, eclamptic seizures usually occur in the antepartum period between 20 and 40 weeks of gestation or within a few hours to 2 days postpartum. We report the case of a patient with pre-eclampsia who developed seizures after more than 2 days of delivery. In view of late onset postpartum seizures and non-responsiveness to magnesium sulphate, she was further evaluated and diagnosed to have congenital perisylvian syndrome(CPS). In CPS, polymicrogyric cortex is distributed in variable extensions around the sylvian fissure i...
June 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28782259/prenatal-assessment-of-cerebellar-vermian-lobulation-fetal-mri-with-3-tesla-post-mortem-correlation
#12
Gregor O Dovjak, Peter C Brugger, Gerlinde M Gruber, Jae W Song, Michael Weber, Georg Langs, Dieter Bettelheim, Daniela Prayer, Gregor Kasprian
OBJECTIVES: To optimize the imaging assessment of fetal hindbrain malformations, this observational MRI study aimed to provide quantitative biometric data in normal vermian development in human fetal brains in vivo. METHODS: In this retrospective, review board approved study, 78 fetuses (18-32 gestational weeks (GW)) scanned prenatally at 1.5T, and seven fetuses (16-30GW), scanned within 24 hours post-mortem at 3T,were included. All fetal brains were segmented on a T2-weighted midline sagittal slice...
August 6, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28775059/basal-ganglia-t1-hyperintensity-in-hereditary-hemorrhagic-telangiectasia
#13
A Parvinian, V N Iyer, B S Pannu, D R Apala, C P Wood, W Brinjikji
BACKGROUND AND PURPOSE: The implications of basal ganglia T1 hyperintensity remain unclear in patients with hereditary hemorrhagic telangiectasia. This study was performed to assess the prevalence of this imaging finding in a large cohort of patients with hereditary hemorrhagic telangiectasia and to identify any association between this phenomenon and other disease manifestations. MATERIALS AND METHODS: In this retrospective study, we identified all patients at our institution diagnosed with definite hereditary hemorrhagic telangiectasia from 2001 to 2017...
August 3, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28771056/ocular-motor-function-in-children-with-spastic-hemiplegia-evaluated-by-the-ocular-motor-score
#14
A Rydberg, J Ygge, M Olsson
PURPOSE: To assess the ocular motor functions in children with spastic hemiplegia by using the Ocular Motor Score (OMS). MATERIAL: This study included 34 children, median age 11 years. The children were divided into 3 groups according to the underlying brain lesion; group 1 malformations, group 2 white matter damage of immaturity (WMDI), and group 3 cortical/subcortical lesions. METHODS: The OMS protocol consists of 15 different subtests evaluating ocular motor functions...
August 3, 2017: Strabismus
https://www.readbyqxmd.com/read/28768830/neurodegeneration-associated-mutant-trem2-proteins-abortively-cycle-between-the-er-and-er-golgi-intermediate-compartment
#15
Daniel W Sirkis, Renan E Aparicio, Randy Schekman
Triggering receptor expressed on myeloid cells 2 (TREM2) is a transmembrane protein expressed on microglia within the brain. Several rare mutations in TREM2 cause an early-onset form of neurodegeneration when inherited homozygously. Here we investigate how these mutations affect the intracellular transport of TREM2. We find that most pathogenic TREM2 mutant proteins fail to undergo normal maturation in the Golgi complex and show markedly reduced cell surface expression. Prior research has suggested that two such mutants are retained in the endoplasmic reticulum (ER), but we find, using a cell-free COPII vesicle budding reaction, that mutant TREM2 is exported efficiently from the ER...
August 2, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#16
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28767347/arteriovenous-malformations-of-the-brain
#17
LETTER
Sung-Hye You, Byungjun Kim, Sang W Shin
New England Journal of Medicine, Volume 377, Issue 5, Page 497-498, August 2017.
August 3, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28767346/arteriovenous-malformations-of-the-brain
#18
LETTER
Robert A Solomon, E Sander Connolly
No abstract text is available yet for this article.
August 3, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28765568/novel-copy-number-variation-of-pomgnt1-associated-with-muscle-eye-brain-disease-detected-by-next-generation-sequencing
#19
Xiaona Fu, Haipo Yang, Hui Jiao, Shuo Wang, Aijie Liu, Xiaoqing Li, Jiangxi Xiao, Yanling Yang, Xiru Wu, Hui Xiong
The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene is one of 18 genes involved in the pathogenesis of α-dystroglycanopathies(α-DGPs) such as muscle-eye-brain disease (MEB). Our study aimed to retrospectively analyze and characterize the clinical and genetic features of three MEB patients with POMGNT1 mutations. One female and two male patients from three unrelated families were diagnosed with MEB, manifesting hypotonia at birth, mental retardation, structural brain defects, and ocular malformations...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28764614/quantitative-evaluation-of-arteriovenous-malformation-hemodynamic-changes-after-endovascular-treatment-using-parametric-color-coding-a-case-series-study
#20
Rodrigo Rivera, Juan G Sordo, Daniel Echeverria, Lautaro Badilla, Camila Pinto, Catalina Merino-Osorio
Background Brain arteriovenous malformations (AVMs) are complex vascular lesions. Endovascular treatment results are usually measured by calculating the volume reduction of the lesions. Nevertheless, vascular flow quantification seems a more physiologically accurate way of measuring endovascular results. We evaluated the use of parametric color coding (PCC) with digital subtraction angiography (DSA), in order to determine the feasibility of PCC to detect and measure the impact of AVM endovascular treatment-induced changes using real-time hemodynamic parameters...
January 1, 2017: Interventional Neuroradiology
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