keyword
MENU ▼
Read by QxMD icon Read
search

Brain malformation

keyword
https://www.readbyqxmd.com/read/28725213/can-brain-natriuretic-peptides-and-osteoprotegerin-serve-as-biochemical-markers-for-the-detection-of-aortic-pathology-in-children-and-adolescents-with-turner-syndrome
#1
REVIEW
Meenal Mavinkurve, Clodagh S O'Gorman
Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28724825/a-rare-case-of-overlapping-sturge-weber-syndrome-and-klippel-trenaunay-syndrome-associated-with-bilateral-refractory-childhood-glaucoma
#2
Manju R Pillai, P P Hasini, Ashish Ahuja, S R Krishnadas
A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#3
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#4
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28712909/comparison-of-grading-scales-regarding-perioperative-complications-and-clinical-outcomes-of-brain-arteriovenous-malformations-after-endovascular-therapy-a-multicenter-study
#5
Hengwei Jin, Yuhua Jiang, Huijian Ge, Jing Luo, Conghui Li, Hongxing Wu, Youxiang Li
OBJECTIVES: Several scales have been proposed for risk assessment and outcome determination in brain arteriovenous malformations (bAVMs) treated by endovascular therapy. We aim to validate and compare the efficacy of these scales in predicting perioperative complications and clinical outcomes. METHODS: We retrospectively reviewed bAVM patients who underwent endovascular therapy at 4 centers in China from January 2012 to December 2015. The primary outcomes were complications, unfavorable outcome (mRS≥3) and complete obliteration...
July 13, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28712904/pitfalls-in-diagnosis-and-management-of-testicular-choriocarcinoma-metastatic-to-the-brain-report-of-two-cases-and-review-of-literature
#6
REVIEW
Haydn Hoffman, Gentian Toshkezi, Joseph M Fullmer, Walter Hall, Lawrence S Chin
INTRODUCTION: Pure choriocarcinoma of the testes is a rare, aggressive germ cell tumor (GCT) that can metastasize to the brain. Although its prognosis has improved with the development of cisplatin-based chemotherapy regimens, cerebral metastases are prone to hemorrhage and are associated with high morbidity. Here, we present two cases of testicular choriocarcinoma with cerebral metastasis and discuss potential pitfalls in their diagnosis and management. We also review cases in the literature that feature these rare lesions...
July 13, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28710086/onyx-embolization-prior-to-stereotactic-radiosurgery-for-brain-arteriovenous-malformations-a-single-center-treatment-algorithm
#7
John D Nerva, Jason Barber, Michael R Levitt, Jason K Rockhill, Danial K Hallam, Basavaraj V Ghodke, Laligam N Sekhar, Louis J Kim
BACKGROUND: Embolization before stereotactic radiosurgery (SRS) for brain arteriovenous malformations (BAVMs) is controversial. OBJECTIVE: To compare clinical and radiographic outcomes in patients undergoing pre-SRS embolization with ethylene copolymer (Onyx) with outcomes in patients undergoing SRS alone. METHODS: Seventy consecutive patients with BAVMs who underwent SRS were retrospectively reviewed. Univariate and multivariate analyses were performed to assess the factors associated with radiographic obliteration and complication...
July 14, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28705817/multinodular-and-vacuolating-neuronal-tumor-of-the-cerebrum-a-new-leave-me-alone-lesion-with-a-characteristic-imaging-pattern
#8
R H Nunes, C C Hsu, A J da Rocha, L L F do Amaral, L F S Godoy, T W Watkins, V H Marussi, M Warmuth-Metz, H C Alves, F G Goncalves, B K Kleinschmidt-DeMasters, A G Osborn
Multinodular and vacuolating neuronal tumor of the cerebrum is a recently reported benign, mixed glial neuronal lesion that is included in the 2016 updated World Health Organization classification of brain neoplasms as a unique cytoarchitectural pattern of gangliocytoma. We report 33 cases of presumed multinodular and vacuolating neuronal tumor of the cerebrum that exhibit a remarkably similar pattern of imaging findings consisting of a subcortical cluster of nodular lesions located on the inner surface of an otherwise normal-appearing cortex, principally within the deep cortical ribbon and superficial subcortical white matter, which is hyperintense on FLAIR...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28704368/mouse-models-of-17q21-31-microdeletion-and-microduplication-syndromes-highlight-the-importance-of-kansl1-for-cognition
#9
Thomas Arbogast, Giovanni Iacono, Claire Chevalier, Nurudeen O Afinowi, Xander Houbaert, Matthijs C van Eede, Christine Laliberte, Marie-Christine Birling, Katrin Linda, Hamid Meziane, Mohammed Selloum, Tania Sorg, Nael Nadif Kasri, David A Koolen, Henk G Stunnenberg, R Mark Henkelman, Maksym Kopanitsa, Yann Humeau, Bert B A De Vries, Yann Herault
Koolen-de Vries syndrome (KdVS) is a multi-system disorder characterized by intellectual disability, friendly behavior, and congenital malformations. The syndrome is caused either by microdeletions in the 17q21.31 chromosomal region or by variants in the KANSL1 gene. The reciprocal 17q21.31 microduplication syndrome is associated with psychomotor delay, and reduced social interaction. To investigate the pathophysiology of 17q21.31 microdeletion and microduplication syndromes, we generated three mouse models: 1) the deletion (Del/+); or 2) the reciprocal duplication (Dup/+) of the 17q21...
July 13, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28696502/linking-brain-arteriovenous-malformations-with-anorectal-hemorrhoids-a-clinical-and-anatomical-review
#10
REVIEW
Joshua A Cuoco, Christopher L Hoehmann, Kyle Hitscherich, Sherry M Zakhary, Joerg R Leheste, German Torres
Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary-coding component. Here, we review recent insights into the pathophysiology of arteriovenous malformations, in particular, certain signaling pathways that might underlie endothelial cell pathology. To better interpret the origins, determinants and consequences of brain arteriovenous malformations, we present a clinical case to illustrate the phenotypic landscape of the disease...
July 11, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28695311/aberrant-paramagnetic-signals-outside-the-tumor-volume-on-routine-surveillance-mri-of-brain-tumor-patients
#11
Shlomit Yust-Katz, Edna Inbar, Natalia Michaeli, Dror Limon, Tali Siegal
Late complications of cerebral radiation therapy (RT) involve vascular injury with acquired cavernous malformation, telangiectasias and damage to vascular walls which are well recognized in children. Its incidence in adults is unknown. Blood products and iron deposition that accompany vascular injury create paramagnetic effects on MRI. This study retrospectively investigated the frequency of paramagnetic lesions on routine surveillance MRI of adult brain tumor patients. MRI studies of 115 brain tumor patients were reviewed...
July 10, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28694214/visualization-of-migration-of-human-cortical-neurons-generated-from-induced-pluripotent-stem-cells
#12
Yohei Bamba, Yonehiro Kanemura, Hideyuki Okano, Mami Yamasaki
BACKGROUND: Neuronal migration is considered a key process in human brain development. However, direct observation of migrating human cortical neurons in the fetal brain is accompanied by ethical concerns and is a major obstacle in investigating human cortical neuronal migration. NEW METHOD: We established a novel system that enables direct visualization of migrating cortical neurons generated from human induced pluripotent stem cells (hiPSCs). RESULTS: We observed the migration of cortical neurons generated from hiPSCs derived from a control and from a patient with lissencephaly...
July 8, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28692522/reconstructive-operation-of-nonsyndromic-multiple-suture-craniosynostosis-based-on-precise-virtual-plan-and-prefabricated-template
#13
Jian Ni, Bin Yang, Binghang Li
This report presents a case of a 4-year-old girl suffering from multiple-suture nonsyndromic craniosynostosis. The patient is characterized with fronto-orbital malformation and poor visual acuity. The preoperational three-dimensional computed tomography scan showed premature closure of the sagittal suture, bilateral coronal, and lambdoidal suture. The virtual surgical planning was performed before operation for the reposition of bone segments and communication with the patient's family. The navigational plate for reshaping was made based on the surgical plan with three-dimensional printed model...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28691576/time-resolved-computed-tomography-angiography-in-the-evaluation-of-brain-arteriovenous-malformation-a-feasibility-study
#14
Rupinder Singh, Vivek Gupta, Chirag Ahuja, Niranjan Khandelwal
Background and purpose Digital subtraction angiography is the current gold standard for diagnosing as well as the follow-up of cerebral arteriovenous malformations. However, as it is invasive, relatively expensive and time-consuming, a non-invasive alternative is of interest. We aimed to evaluate the feasibility of time resolved computed tomography angiography (TR-CTA) in a series of five diagnosed cranial arteriovenous malformation patients, demonstrated by conventional digital subtraction angiography with respect to acquisition, depiction of angiographic phases and radiation exposure...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28687668/tubulin-isotype-specificity-in-neuronal-migration-tuba8-can-t-fill-in-for-tuba1a
#15
Takeshi Kawauchi
Several tubulin isotypes, including Tuba1a, are associated with brain malformations. In this issue, Belvindrah et al. (2017. J. Cell Biol. https://doi.org/10.1083/jcb.201607074) show that Tuba1a and Tuba8 differentially regulate microtubule organization in neurons, and they provide insights into the mechanisms by which Tuba1a mutations disrupt adult mouse brain morphology.
July 7, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28687665/mutation-of-the-%C3%AE-tubulin-tuba1a-leads-to-straighter-microtubules-and-perturbs-neuronal-migration
#16
Richard Belvindrah, Kathiresan Natarajan, Preety Shabajee, Elodie Bruel-Jungerman, Jennifer Bernard, Marie Goutierre, Imane Moutkine, Xavier H Jaglin, Mythili Savariradjane, Theano Irinopoulou, Jean-Christophe Poncer, Carsten Janke, Fiona Francis
Brain development involves extensive migration of neurons. Microtubules (MTs) are key cellular effectors of neuronal displacement that are assembled from α/β-tubulin heterodimers. Mutation of the α-tubulin isotype TUBA1A is associated with cortical malformations in humans. In this study, we provide detailed in vivo and in vitro analyses of Tuba1a mutants. In mice carrying a Tuba1a missense mutation (S140G), neurons accumulate, and glial cells are dispersed along the rostral migratory stream in postnatal and adult brains...
July 7, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28686858/a-pentanucleotide-atttc-repeat-insertion-in-the-non-coding-region-of-dab1-mapping-to-sca37-causes-spinocerebellar-ataxia
#17
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz, Angela Timóteo, Beatriz Quintáns, Guy A Rouleau, Patrizia Rizzu, Ángel Carracedo, José Bessa, Peter Heutink, Jorge Sequeiros, Maria J Sobrido, Paula Coutinho, Isabel Silveira
Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, but only five SCAs originate from non-coding mutations. Over half of SCA-affected families, however, remain without a genetic diagnosis...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28686357/homozygous-null-variant-in-cradd-encoding-an-adaptor-protein-that-mediates-apoptosis-is-associated-with-lissencephaly
#18
Tamar Harel, Nuphar Hacohen, Avraham Shaag, Moshe Gomori, Amihood Singer, Orly Elpeleg, Vardiella Meiner
Lissencephaly is a severe malformation of cortical development, most often attributed to abnormalities in neuronal migration. It is associated with a severe prognosis including developmental delay, intellectual disability, and seizures. Lissencephaly can be reliably diagnosed during late gestation by neurosonography or fetal magnetic resonance imaging (MRI). We report two sibling male fetuses who were diagnosed with delayed cortical sulcation highly suggestive of lissencephaly during late pregnancy. After receiving genetic counseling, the parents elected to terminate the pregnancies based on the neuroradiological findings and the associated severe prognosis...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28686111/delayed-treatment-of-ruptured-brain-avms-is-it-ok-to-wait
#19
Jeffrey S Beecher, Kristopher Lyon, Vin Shen Ban, Awais Vance, Cameron M McDougall, Louis A Whitworth, Jonathan A White, Duke Samson, H Hunt Batjer, Babu G Welch
OBJECTIVE Despite a hemorrhagic presentation, many patients with arteriovenous malformations (AVMs) do not require emergency resection. The timing of definitive management is not standardized in the cerebrovascular community. This study was designed to evaluate the safety of delaying AVM treatment in clinically stable patients with a new hemorrhagic presentation. The authors examined the rate of rehemorrhage or neurological decline in a cohort of patients with ruptured brain AVMs during a period of time posthemorrhage...
July 7, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28685260/radiological-evolution-of-peri-odontoid-pannus-in-a-patient-with-chiari-i-malformation-a-case-based-review
#20
Felipe Hada Sanders, Joy M H Wang, Rod J Oskouian, R Shane Tubbs, W Jerry Oakes
INTRODUCTION: The Chiari I malformation (CIM) is commonly encountered by neurosurgeons and can have different etiologies and clinical presentations. CASE REPORT: We report a CIM patient who presented with symptoms of ventral brain stem compression and was found to have a large peri-odontoid pannus. Posterior fossa decompression was performed with a planned second-stage odontoidectomy. However, at the 6-month follow-up, postoperative images demonstrated a mostly resolved pannus and improvement of the brain stem compression symptoms, and the patient progressed uneventfully without the need for odontoidectomy...
July 6, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
keyword
keyword
93809
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"