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https://www.readbyqxmd.com/read/29141275/roles-of-the-declive-folium-and-tuber-cerebellar-vermian-lobules-in-sportspeople
#1
In Sung Park, Nam Joon Lee, Im Joo Rhyu
The cerebellum plays vital roles in balance control and motor learning, including in saccadic adaptation and coordination. It consists of the vermis and two hemispheres and is anatomically separated into ten lobules that are designated as I-X. Although neuroimaging and clinical studies suggest that functions are compartmentalized within the cerebellum, the function of each cerebellar lobule is not fully understood. Electrophysiological and lesion studies in animals as well as neuroimaging and lesion studies in humans have revealed that vermian lobules VI and VII (declive, folium, and tuber) are critical for controlling postural balance, saccadic eye movements, and coordination...
September 28, 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29037562/dandy-walker-syndrome-with-duplex-kidney-abnormalities-in-trisomy-18-a-rare-case-report
#2
Tun-Jun Wang, Yi-Ying Li, Wan-Ju Wu, Chi-Kang Lin, Chun-Kai Wang, Chen-Yu Wang, Kwei-Shuai Hwang, Her-Young Su
OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29027876/intradural-pathology-and-pathophysiology-associated-with-chiari-i-malformation-in-children-and-adults-with-and-without-syringomyelia
#3
Brian J Dlouhy, Jeffrey D Dawson, Arnold H Menezes
OBJECTIVE The pathophysiology underlying tonsillar herniation and CSF obstruction in Chiari malformation Type I (CM-I) is unclear, and the cause of CM-I-associated syringomyelia is not well understood. A better understanding of this pathophysiology is important for an improved treatment strategy. Therefore, the authors sought to identify, characterize, and examine the intradural pathology and CSF flow pathophysiology in the posterior fossa and at the level of the foramen magnum that occurs in the setting of CM-I...
October 13, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28967629/mutations-in-aifm1-cause-an-x-linked-childhood-cerebellar-ataxia-partially-responsive-to-riboflavin
#4
G Heimer, E Eyal, X Zhu, E K Ruzzo, D Marek-Yagel, Doron Sagiv, Y Anikster, H Reznik-Wolf, E Pras, D Oz Levi, D Lancet, B Ben-Zeev, A Nissenkorn
BACKGROUND: AIFM1 encodes a mitochondrial flavoprotein with a dual role (NADH oxidoreductase and regulator of apoptosis), which uses riboflavin as a cofactor. Mutations in the X-linked AIFM1 were reported in relation to two main phenotypes: a severe infantile mitochondrial encephalomyopathy and an early-onset axonal sensorimotor neuropathy with hearing loss. In this paper we report two unrelated males harboring AIFM1 mutations (one of which is novel) who display distinct phenotypes including progressive ataxia which partially improved with riboflavin treatment...
September 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28945053/surgery-for-posterior-fossa-ependymomas-in-adults
#5
Yosef Laviv, Isabelle M Germano, Anand Mahadevan, Ekkehard M Kasper
Ependymomas of the posterior fossa in adults are relatively rare, represent less than 1% of adult intracranial gliomas. Most of the cases are WHO grade II. Due to their rarity, there are no randomized studies regarding the best management of these tumors. It seems that surgical resection has a major role in their management. Unlike the scenario in children, these tumors can be cured by gross total resection without adjuvant therapy in the majority of cases. Hence, knowing the different surgical approaches, with their pros and cons, is important in order to offer the patient the best treatment...
September 22, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28940600/chromosomal-aneuploidies-and-copy-number-variations-in-posterior-fossa-abnormalities-diagnosed-by-prenatal-ultrasonography
#6
Ting Lei, Jie-Ling Feng, Ying-Jun Xie, Hong-Ning Xie, Ju Zheng, Mei-Fang Lin
OBJECTIVE: To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS: This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. RESULTS: Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia...
September 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28864914/nonketotic-hyperglycinemia-spectrum-of-imaging-findings-with-emphasis-on-diffusion-weighted-imaging
#7
Shaimaa Abdelsattar Mohammad, Heba Salah Abdelkhalek
PURPOSE: The purpose of this study was to explore brain abnormalities in nonketotic hyperglycinemia (NKH) using diffusion-weighted imaging (DWI) and when feasible, diffusion tensor imaging (DTI) and tractography. METHODS: Seven patients with confirmed diagnosis of NKH (8 days-2 years) underwent brain MRI. Conventional T1 and T2WI were acquired in all patients, DWI in six and DTI and tractography in two (4 months and 2 years). Measurements of fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity (AD) and Trace from eight white matter regions were compared between the two patients and age-matched controls...
November 2017: Neuroradiology
https://www.readbyqxmd.com/read/28782259/prenatal-assessment-of-cerebellar-vermian-lobulation-fetal-mri-with-3-tesla-post-mortem-correlation
#8
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/28698085/modified-park-bench-position-for-superior-vermian-arteriovenous-malformations-and-dural-fistulas
#9
Rouzbeh Motiei-Langroudi, Christoph J Griessenauer, Abdulrahman Y Alturki, Paul H Chapman, Christopher S Ogilvy, Ajith J Thomas
OBJECTIVES: Arteriovenous malformations (AVMs) of the superior cerebellar vermis and dural arteriovenous fistulas (dAVFs) draining into tentorial venous structures are uncommon lesions. Various surgical approaches and positions have been used to gain access. METHODS: We present our experience with 10 superior vermian AVMs and 3 dAVFs with retrograde transverse sinus or torcular drainage, each resected through a supracerebellar infratentorial approach in the park bench position with modification of the neck and head position (vertex tilt-up instead of down)...
October 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28498095/risk-factors-for-development-of-postoperative-cerebellar-mutism-syndrome-in-children-after-medulloblastoma-surgery
#10
San Y C V Pols, Marie Lise C van Veelen, Femke K Aarsen, Antonia Gonzalez Candel, Coriene E Catsman-Berrevoets
OBJECTIVE Postoperative cerebellar mutism syndrome (pCMS) occurs in 7%-50% of children after cerebellar tumor surgery. Typical features include a latent onset of 1-2 days after surgery, transient mutism, emotional lability, and a wide variety of motor and neurobehavioral abnormalities. Sequelae of this syndrome usually persist long term. The principal causal factor is bilateral surgical damage (regardless of tumor location) to any component of the proximal efferent cerebellar pathway, which leads to temporary dysfunction of cerebral cortical regions as a result of diaschisis...
July 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28431631/neuroimaging-findings-in-joubert-syndrome-with-c5orf42-gene-mutations-a-milder-form-of-molar-tooth-sign-and-vermian-hypoplasia
#11
Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, Naomichi Matsumoto
PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28295149/enlarged-posterior-fossa-on-prenatal-imaging-differential-diagnosis-associated-anomalies-and-postnatal-outcome
#12
Anja Wüest, Daniel Surbek, Roland Wiest, Christian Weisstanner, Harald Bonel, Maja Steinlin, Luigi Raio, Boris Tutschek
INTRODUCTION: The primary aim of this study was to ascertain the prevalence of the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa (PF) and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the postnatal outcome of children affected by PF anomalies. MATERIAL AND METHODS: All fetuses with enlarged PF detected by prenatal sonography at a referral center from 2001 to 2015 were analyzed retrospectively...
July 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28291420/de-novo-formation-of-a-large-cavernoma-associated-with-a-congenital-torcular-dural-arteriovenous-fistula-case-report
#13
Waleed Brinjikji, Kelly D Flemming, Giuseppe Lanzino
The authors report a case of a developmentally normal child with a congenital complex torcular dural arteriovenous fistula (DAVF) who later, in his teenage years, developed several vermian cavernomas within a large cerebellar developmental venous anomaly (DVA). The patient had initially presented with an abnormally large head circumference but no neurological deficits. He underwent several partial embolization procedures in an attempt to decrease the blood supply of the fistula over the course of 8 years. Nine years following initial presentation, he presented with a fourth ventricular hemorrhage, due to development of a new vermian cavernoma adjacent to a previously known vermian DVA and suffered subsequent mild left-sided hemiataxia from which he later recovered...
May 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28288540/brainstem-vermis-and-brainstem-tentorium-angles-3d-ultrasound-study-of-the-intra-and-inter-observer-agreement
#14
Tamara Illescas, Pilar Martínez-Ten, Carmina Bermejo, María Estévez, Begoña Adiego
OBJECTIVE: The brainstem-vermis angle (BVA) and the brainstem-tentorium angle (BTA) have been proposed to quantify vermian and tentorial alterations associated to fetal posterior fossa malformations. Our objective is to evaluate the intra- and inter-observer agreement for the measurement of these angles during the prenatal ultrasound scan. METHODS: Fifteen 3 D sets from fetuses with posterior fossa pathology were processed by multiplanar navigation. Four experts in prenatal ultrasound measured the BVA and the BTA on a mid-sagittal view of the fetal brain, following the criteria described by Volpe...
April 5, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28137957/loss-of-function-mutations-in-the-atp13a2-park9-gene-cause-complicated-hereditary-spastic-paraplegia-spg78
#15
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Zuchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments...
February 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28000699/absence-of-hikeshi-a-nuclear-transporter-for-heat-shock-protein-hsp70-causes-infantile-hypomyelinating-leukoencephalopathy
#16
Catalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, Helena Pihko, Anu Suomalainen, Christopher J Carroll
Genetic leukoencephalopathies are a heterogeneous group of central nervous system disorders with white matter involvement. In a Finnish patient, we identified a novel homozygous disease-causing variant in HIKESHI, c.11G>C, p.(Cys4Ser), leading to hypomyelinating leukoencephalopathy with periventricular cysts and vermian atrophy. A founder Ashkenazi-Jewish disease-causing variant recently linked Hikeshi and its heat-shock protective function to leukoencephalopathy. In our patient, clinical features of lower limb spasticity, optic atrophy, nystagmus, and severe developmental delay were similar to reported patients...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27975139/foramina-parietalia-permagna-familial-and-radiological-evaluation-of-two-cases-and-review-of-literature
#17
Larissa Gabor, Huseyin Canaz, Gokhan Canaz, Nursu Kara, Elif Yilmaz Gulec, Ibrahim Alatas
PURPOSE: Foramina parietalia permagna is a variable intramembranous ossification defect of the parietal bones. Foramina parietalia permagna have an autosomal dominant inheritance, and it is showed that mutations in chromosome 5 and 11 are causing this anomaly. Enlarged parietal foramina occurs extremely rare. They are usually asymptomatic, but occasional headache, vomiting, pain over unprotected cerebral cortex, and seizures may be experienced by the patients. In the literature, some associated congenital bony defects, soft tissue pathologies, underlying neuronal deficits, and vascular variations have been described...
May 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27715436/midline-and-off-midline-infratentorial-supracerebellar-approaches-to-the-pineal-gland
#18
Satoshi Matsuo, Serhat Baydin, Abuzer Güngör, Koichi Miki, Noritaka Komune, Ryota Kurogi, Koji Iihara, Albert L Rhoton
OBJECTIVE A common approach to lesions of the pineal region is along the midline below the torcula. However, reports of how shifting the approach off midline affects the surgical exposure and relationships between the tributaries of the vein of Galen are limited. The purpose of this study is to examine the microsurgical and endoscopic anatomy of the pineal region as seen through the supracerebellar infratentorial approaches, including midline, paramedian, lateral, and far-lateral routes. METHODS The quadrigeminal cisterns of 8 formalin-fixed adult cadaveric heads were dissected and examined with the aid of a surgical microscope and straight endoscope...
June 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27703661/quantitative-evaluation-of-the-fetal-cerebellar-vermis-using-the-median-view-on-two-dimensional-ultrasound
#19
Cenk Gezer, Atalay Ekin, Naciye Sinem Gezer, Ulas Solmaz, Mehmet Ozeren
BACKGROUND: Evaluation of the cerebellum and vermis is one of the integral parts of the fetal cranial anomaly screening. OBJECTIVES: The aim of this study was to create a nomogram for fetal vermis measurements between 17 and 30 gestational weeks. PATIENTS AND METHODS: This prospective study was conducted on 171 volunteer pregnant women between March 2013 and December 2014. Measurements of the fetal cerebellar vermis diameters in the sagittal plane were performed by two-dimensional transabdominal ultrasonography...
April 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27516241/intravoxel-incoherent-motion-in-normal-pituitary-gland-initial-study-with-turbo-spin-echo-diffusion-weighted-imaging
#20
K Kamimura, M Nakajo, Y Fukukura, T Iwanaga, T Saito, M Sasaki, T Fujisaki, A Takemura, T Okuaki, T Yoshiura
BACKGROUND AND PURPOSE: DWI with conventional single-shot EPI of the pituitary gland is hampered by strong susceptibility artifacts. Our purpose was to evaluate the feasibility of intravoxel incoherent motion assessment by using DWI based on TSE of the normal anterior pituitary lobe. MATERIALS AND METHODS: The intravoxel incoherent motion parameters, including the true diffusion coefficient (D), the perfusion fraction (f), and the pseudo-diffusion coefficient (D*), were obtained with TSE-DWI in 5 brain regions (the pons, the WM and GM of the vermis, and the genu and splenium of the corpus callosum) in 8 healthy volunteers, and their agreement with those obtained with EPI-DWI was evaluated by using the intraclass correlation coefficient...
December 2016: AJNR. American Journal of Neuroradiology
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