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https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#1
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791504/periconceptional-maternal-dairy-rich-dietary-pattern-is-associated-with-prenatal-cerebellar-growth
#2
Francesca Parisi, Melek Rousian, Irene V Koning, Sten P Willemsen, Jeanne H M de Vries, Eric A P Steegers, Régine P M Steegers-Theunissen
BACKGROUND: Maternal nutrition during pregnancy has been related to intrauterine brain development and neurodevelopmental disabilities in adult life. We aim to investigate associations between periconceptional maternal dietary patterns and prenatal cerebellar growth from the first trimester onwards. MATERIALS AND METHODS: 126 women with singleton non-malformed pregnancies were enrolled before 8 weeks of gestation in the Rotterdam periconceptional cohort between 2013 and 2015...
2018: PloS One
https://www.readbyqxmd.com/read/29789951/sleep-in-children-with-congenital-malformations-of-the-central-nervous-system
#3
REVIEW
Jacqueline F Yates, Matthew M Troester, David G Ingram
PURPOSE OF REVIEW: Congenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders. RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29785155/the-volume-of-the-cerebellum-in-the-second-semester-of-gestation
#4
Damiana Vulturar, Alexandru Fărcăşanu, Flaviu Turcu, Dan Boitor, Carmen Crivii
Background and aims: The cerebellum ("little brain"), the largest part of hind brain, lies in the posterior cranial fossa, beneath the occipital lobe and dorsal to the brainstem. It develops over a long period: it is one of the first structures in the brain to begin to differentiate, but one of the last to mature. The use of ultrasonography has significantly improved the evaluation of fetal growth and development and has permitted prenatal diagnosis of a variety of congenital malformations...
2018: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29781371/quantification-of-tantalum-sedimentation-rates-in-liquid-embolic-agents
#5
J R Mason, C Dodge, G Benndorf
Background Endovascular treatment (EVT) of brain arteriovenous malformations has evolved from cyanoacrylate derivatives such as N-butyl cyanoacrylate, an adhesive glue, to ethylene vinyl copolymer-based liquid embolics such as Onyx® and SQUID® dissolved in dimethyl sulfoxide. Although these agents offer several advantages, their rapidly decreasing radiopacity, as a result of the sedimentation of tantalum powder, compromises visual control during EVT. This study aims to quantify and compare tantalum sedimentation rates of several liquid embolic agents, and determine their effects on radiopacity...
January 1, 2018: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29776403/rostral-cranial-fossa-as-a-site-for-cerebrospinal-fluid-drainage-volumetric-studies-in-dog-breeds-of-different-size-and-morphotype
#6
Wojciech Sokołowski, Norbert Czubaj, Michał Skibniewski, Karolina Barszcz, Marta Kupczyńska, Wojciech Kinda, Zdzisław Kiełbowicz
BACKGROUND: Hydrocephalus is a multifactorial condition, whose aetiology is not fully understood. Congenital hydrocephalus frequently occurs in small and brachycephalic dog breeds. Although it is widely accepted that the cribriform plate located in the rostral cranial fossa (RCF) is a site of cerebrospinal fluid (CSF) drainage, the RCF has not been studied extensively. Literature reports indicate that a decreased caudal cranial fossa (CCF) volume in the course of the Chiari-like malformation may obstruct CSF circulation...
May 18, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#7
REVIEW
J M Lieb, F J Ahlhelm
CLINICAL ISSUE: Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30-45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20-35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e...
May 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29773754/a-critical-neurodevelopmental-role-for-l-type-voltage-gated-calcium-channels-in-neurite-extension-and-radial-migration
#8
Satoshi Kamijo, Yuichiro Ishii, Shin-Ichiro Horigane, Kanzo Suzuki, Masamichi Ohkura, Junichi Nakai, Hajime Fujii, Sayaka Takemoto-Kimura, Haruhiko Bito
In spite of many association studies linking gene polymorphisms and mutations of L-type Voltage-Gated Ca2+ Channels (VGCC) in neurodevelopmental disorders, such as autism and schizophrenia, specific L-type VGCC roles during brain development remain unclear. Yet, calcium signaling has been shown to be essential for neurodevelopmental processes such as sculpting of neurites, functional wiring and fine tuning of growing networks. To bridge this gap, we performed submembraneous calcium imaging using a membrane-tethered genetically-encoded calcium indicator (GECI) Lck-G-CaMP7...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29772363/a-comprehensive-study-of-symptomatic-late-radiation-induced-complications-after-radiosurgery-for-brain-arteriovenous-malformation-incidence-risk-factors-and-clinical-outcomes
#9
Hirotaka Hasegawa, Shunya Hanakita, Masahiro Shin, Takehiro Sugiyama, Mariko Kawashima, Wataru Takahashi, Masaaki Shojima, Osamu Ishikawa, Hirofumi Nakatomi, Nobuhito Saito
OBJECT: Stereotactic radiosurgery (SRS) is widely used to treat brain arteriovenous malformation (AVM); however, detailed information on late radiation-induced complications (LRICs) is scarce. The goal of the present study was to characterize the incidence, risk factors, and clinical outcomes of LRICs based on our long-term follow-up data. METHODS: The outcomes of consecutive patients who underwent SRS for AVMs at our institution in 1990-2010 were analyzed. Cyst formation/encapsulated hematoma (CF/EH) and radiation-induced tumor (RIT) were defined as LRICs...
May 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29770992/holoprosencephaly-in-the-genomics-era
#10
Erich Roessler, Ping Hu, Maximilian Muenke
Holoprosencephaly (HPE) is the direct consequence of specific genetic and/or environmental insults interrupting the midline specification of the nascent forebrain. Such disturbances can lead to a broad range of phenotypic consequences for the brain and face in humans. This malformation sequence is remarkably common in utero (1 in 250 human fetuses), but 97% typically do not survive to birth. The precise molecular pathogenesis of HPE in these early human embryos remains largely unknown. Here, we outline our current understanding of the principal driving factors leading to HPE pathologies and elaborate our multifactorial integrated genomics approach...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29762746/microsurgery-versus-stereotactic-radiosurgery-for-brain-arteriovenous-malformations-a-matched-cohort-study
#11
Ching-Jen Chen, Dale Ding, Tony R Wang, Thomas J Buell, Adeel Ilyas, Natasha Ironside, Cheng-Chia Lee, M Yashar Kalani, Min S Park, Kenneth C Liu, Jason P Sheehan
BACKGROUND: Microsurgery (MS) and stereotactic radiosurgery (SRS) remain the preferred interventions for the curative treatment of brain arteriovenous malformations (AVM), but their relative efficacy remains incompletely defined. OBJECTIVE: To compare the outcomes of MS to SRS for AVMs through a retrospective, matched cohort study. METHODS: We evaluated institutional databases of AVM patients who underwent MS and SRS. MS-treated patients were matched, in a 1:1 ratio based on patient and AVM characteristics, to SRS-treated patients...
May 12, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29758877/the-role-of-ppar%C3%AE-in-embryonic-development-of-xenopus-tropicalis-under-triphenyltin-induced-teratogenicity
#12
Jingmin Zhu, Xiao Huang, Hui Jiang, Lingling Hu, Jennifer J Michal, Zhihua Jiang, Huahong Shi
Evidence has shown that triphenyltin (TPT) triggers severe malformations in Xenopus tropicalis embryos, partly due to activation of PPARγ (peroxisome proliferator activated receptor γ) protein. In the present study, we investigated how abundance of pparγ and TPT exposure interact and affect X. tropicalis embryonic development. We observed pparγ expression signals appeared in the neural crest and neural fold, as well as in the brain, eyes and spinal cord organs. Both pparγ overexpression and its Morpholino (MO) knockdown inhibited pax6 (paired box 6) expression, a marker of eye development, and significantly up- and down-regulated lipid and glucose homeostasis related genes, such as lpl (lipoprotein lipase), slc2a4 (solute carrier family 2 (facilitated glucose transporter), member 4) and pck1 (phosphoenolpyruvate carboxykinase 1, cytosolic), thus inducing eye phenotypes...
August 15, 2018: Science of the Total Environment
https://www.readbyqxmd.com/read/29755904/radiation-induced-cavernous-malformation-as-a-late-sequelae-of-stereotactic-radiosurgery-for-epilepsy
#13
Ethan A Winkler, Caleb Rutledge, Mariann Ward, Tarik Tihan, Patricia K Sneed, Nicholas Barbaro, Paul Garcia, Michael McDermott, Edward F Chang
Stereotactic radiosurgery (SRS) is a promising treatment for medically intractable mesial temporal lobe epilepsy. SRS for epilepsy has had an acceptable safety profile with reports of radiation-induced vascular malformations confined to central nervous system pathologies with prominent angiogenesis - namely, primary brain tumors, metastases, and arteriovenous malformations. Theoretical risks for radiation-induced lesions following radiosurgery for epilepsy have yet to be established. Of 13 patients treated in a pilot trial for medial temporal lobe epilepsy, one developed multiple delayed radiation-induced cavernous malformations following radiosurgery...
March 11, 2018: Curēus
https://www.readbyqxmd.com/read/29753575/quantitative-apparent-diffusion-coefficient-mapping-may-predict-seizure-onset-in-children-with-sturge-weber-syndrome
#14
Anna L R Pinto, Yangming Ou, Mustafa Sahin, P Ellen Grant
BACKGROUND: Sturge-Weber syndrome (SWS) is often accompanied by seizures, stroke-like episodes, hemiparesis, and visual field deficits. This study aimed to identify early pathophysiologic changes that exist before the development of clinical symptoms and to evaluate if the apparent diffusion coefficient (ADC) map is a candidate early biomarker of seizure risk in patients with SWS. METHODS: This is a prospective cross-sectional study using quantitative ADC analysis to predict onset of epilepsy...
April 12, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29753248/embryonic-exposure-to-benzo-a-pyrene-inhibits-reproductive-capability-in-adult-female-zebrafish-and-correlation-with-dna-methylation
#15
Dongxu Gao, Jing Lin, Kunlin Ou, Ying Chen, Hongbin Li, Qinhua Dai, Zhenni Yu, Zhenghong Zuo, Chonggang Wang
This study was conducted to investigate the effects of embryonic short-term exposure to benzo(a)pyrene (BaP), a model polycyclic aromatic hydrocarbon, on ovarian development and reproductive capability in adult female zebrafish. In 1-year-old fish after embryonic exposure to BaP for 96 h, the gonadosomatic indices and the percentage of mature oocytes were significantly decreased in the 0.5, 5 and 50 nmol/L treatments. The spawned egg number, the fertilization rate and the hatching success were significantly reduced, while the malformation rate of the F1 unexposed larvae were increased...
May 9, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29753079/curative-transvenous-embolization-for-ruptured-brain-arteriovenous-malformations-a-single-center-experience-from-china
#16
Yingkun He, Weixing Bai, Tianxiao Li, Ferdinand K Hui, Yanyan He, Bin Xu
OBJECTIVE: To evaluate the feasibility and safety of transvenous embolization treatment for brain arteriovenous malformations (bAVM). METHODS: Between November 2016 and August 2017, a transvenous endovascular embolization protocol was implemented at the Henan Provincial People's Hospital for consecutive patients with ruptured bAVM. Therapeutic decision making was based on Spetzler-Martin grades, bAVM location, pattern of venous drainage, and angioarchitecture. And the transvenous embolization procedure was combined with transarterial support...
May 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29752992/radiosurgery-reduces-plasma-levels-of-angiogenic-factors-in-brain-arteriovenous-malformation-patients
#17
Ming Xu, Xiaoxia Liu, Guanghai Mei, Junjie Zhang, Weixing Wang, Hongzhi Xu
PURPOSE: Aberrant expression of angiogenic factors has been anecdotally documented in brain arteriovenous malformation (AVM) nidus vessels; however, no data is available on the effect of radiosurgery on the levels of angiogenic factors in AVM patients. We sought to determine the plasma contents of VEGF, TGF-β, Ang-2 and bFGF in 28 brain AVM patients at baseline and post radiosurgery and further analyzed the relationship between plasma contents of these angiogenic factors with clinicopathologic variables of these patients...
May 9, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29751183/onyx-embolization-before-the-surgical-treatment-of-grade-iii-spetzler-martin-brain-arteriovenous-malformations-single-center-experience-and-technical-nuances
#18
S Luzzi, M Del Maestro, D Bongetta, C Zoia, A V Giordano, D Trovarelli, Dehcordi S Raysi, R J Galzio
BACKGROUND: grade-III Spetzler-Martin (SM) brain arteriovenous malformations (AVMs) are a specific set of AVMs with a high variability in terms of site, size, angioarchitecture, flow dynamics and involvement of eloquent areas. Surgery preceded by pre-operative embolization has been reported as a useful treatment option for these lesions. The aim of this study is to report outcomes and personal experience of combined pre-operative Onyx embolization and surgical resection on a consecutive series of grade-III brain AVMs...
May 8, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29750358/a-population-based-cost-effectiveness-study-of-early-genetic-testing-in-severe-epilepsies-of-infancy
#19
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey
OBJECTIVE: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. METHODS: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29749239/a-novel-fetal-sequence-patogenesis-resulting-in-oral-meningoencephalocele
#20
M Gabor, P Papcun, Jr M Krizko, Z Cierna, V Ferianec
OBJECTIVES: To analyze a rare triad of intracranial fetal pathologies and clinical study of the novel defined sequence pathogenesis based on prenatal and postmortem findings. METHODS: Complex multidisciplinary clinical analysis and review of up-to-date literature. RESULTS: In an 18-gestational-week fetus the screening ultrasound scan resembled the semilobar type of holoprosencephaly and oral tumor. After the indicated termination of pregnancy, the histopathology results confirmed another pathologies - oral meningoencephalocele, teratoma of the sellar area and large arachnoidal cyst of the anterior cerebral fossa...
2018: Bratislavské Lekárske Listy
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