keyword
MENU ▼
Read by QxMD icon Read
search

Brain malformation

keyword
https://www.readbyqxmd.com/read/29166461/presumed-zika-virus-related-congenital-brain-malformations-the-spectrum-of-ct-and-mri-findings-in-fetuses-and-newborns
#1
José Daniel Vieira de Castro, Licia Pacheco Pereira, Daniel Aguiar Dias, Lindenberg Barbosa Aguiar, Joanira Costa Nogueira Maia, Jesus Irajacy Fernandes da Costa, Eveline Campos Monteiro de Castro, Francisco Edson de Lucena Feitosa, Francisco Herlânio Costa Carvalho
OBJECTIVE: The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection...
October 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29159461/severe-hyperammonemic-encephalopathy-requiring-dialysis-aggravated-by-prolonged-fasting-and-intermittent-high-fat-load-in-a-ramadan-fasting-month-in-a-patient-with-cptii-homozygous-mutation
#2
P Phowthongkum, C Ittiwut, V Shotelersuk
BACKGROUND: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, or the most common adult myopathic forms. No case of severe hyperammonemia without liver dysfunction has been reported. CASE PRESENTATION: We described a 23-year-old man who presented to the emergency department with seizures and was found to have markedly elevation of serum ammonia...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159066/six-adult-patients-with-septo-optic-dysplasia-and-drug-resistant-epilepsy-clinical-findings-and-course
#3
Mashael AlKhateeb, Richard McLachlan, Jorge Burneo, David Diosy, Seyed Mirsattari
Septo-optic dysplasia (SOD) is a rare disorder associated with optic nerve hypoplasia, pituitary abnormalities and agenesis/dysgenesis of midline brain structures including the septum pellucidum and corpus callosum. Though sometimes associated with drug-resistant epilepsy, this association has not been well studied. We report six SOD patients with associated malformation of cortical development (MCD) and drug-resistant epilepsy who underwent video-EEG telemetry at our centre between 1998 and 2016 for drug-resistant epilepsy...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29151265/cnn3-regulates-neural-tube-morphogenesis-and-neuronal-stem-cell-properties
#4
Dirk Junghans, Sebastian Herzog
Calponin 3 (Cnn3) is a member of the calponin family of actin binding molecules that is highly expressed in the mammalian brain and has been shown to control dendritic spine morphology, density and plasticity by regulating actin cytoskeletal reorganization and dynamics. However, little is known about the role of Cnn3 during embryonic development. In this study we analyzed mutant animals deficient in Cnn3 to gain a better understanding of its role in brain morphogenesis. Embryos lacking Cnn3 exhibited massive malformation of the developing brain including exoencephaly, closure defects at the rostral neural tube and strong enlargement of brain tissue...
November 19, 2017: FEBS Journal
https://www.readbyqxmd.com/read/29145339/alveolar-soft-part-sarcoma-with-multiple-brain-and-lung-metastases-in-pregnancy-a-case-report-and-literature-review
#5
Yubo Wang, Jiayue Cui, Xu Yan, Rihua Jin, Xinyu Hong
RATIONAL: Alveolar soft part sarcomas (ASPSs) with multiple brain metastases in pregnancy is a rare entity. PATIENT CONCERNS: We report our experience with a 19-year-old pregnant woman who presented with intermittent headaches and vomiting at 38 weeks gestation. DIAGNOSES: The patient was initially diagnosed as brain metastasis according to computed tomography and magnetic resonance imaging (MRI) imaging. INTERVENTIONS: Cesarean section and craniotomy (complete resection of both brain metastatic lesions) was performed sequentially...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29143062/-intracranial-cystic-lesions
#6
REVIEW
F Ahlhelm, K Shariat, S Götschi, S Ulmer
CLINICAL PROBLEM: Intracerebral cysts are common findings in imaging of the neurocranium and are not always clinically significant. The pathological spectrum of intracerebral cysts is, however, very broad and in addition to incidental findings includes developmental disorders, malformation tumors, primary and secondary neoplasms and infectious etiologies, such as cerebral abscess formation, cysticercosis or residuals after congenital cytomegalovirus infections. Intracerebral cystic defects may be caused by inflammatory central nervous system (CNS) diseases, such as multiple sclerosis as well as by mitochondriopathies, leukodystrophy, electrolyte disturbances or osmotic demyelination syndrome or brain infarctions, e...
November 15, 2017: Der Radiologe
https://www.readbyqxmd.com/read/29142384/hypercapnic-respiratory-failure-in-case-of-chiari-1-5-malformation-case-report-and-review-of-the-literature
#7
Viralkumar M Vasani, Subhas Kanti Konar, S Satish
Type 2 respiratory failure is defined as hypercapnia associated with hypoxia. Chiari 1.5 is known as herniation of the cerebellar tonsils along with brain stem and fourth ventricle. We report a 35-year-old male who presented with acute hypercapnic respiratory failure (Type 2), without any preexisting neurological or respiratory abnormality. Analysis of blood gases in emergency revealed a pH of 7.12, pCO2 of 132 mmHg, and arterial oxygen tension of 118 mm Hg. He was intubated and ventilated. Magnetic resonance imaging brain revealed herniation of the cerebellar tonsils along with brain stem and fourth ventricle...
October 2017: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/29139152/giant-intracranial-arteriovenous-malformation-as-the-focus-of-epileptic-seizures
#8
Mio Takayama, Kenji Hara, Aya Matsusue, Brian Waters, Natsuki Ikematsu, Masayuki Kashiwagi, Shin-Ichi Kubo
A man in his late thirties was found in a supine position in the hallway of his house. He had been diagnosed with epilepsy at approximately 20 years old. Since stopping treatment, epileptic events occurred more frequently and his condition deteriorated in the past 2 years. Autopsy revealed that head injuries were found on the left side of his head. A fracture from the left parietal bone to the anterior cranial fossa was also detected. A subdural hemorrhage (hematoma) spanned a wide range. A subarachnoid hemorrhage was also identified in the left parietal region...
November 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#9
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29137094/a-novel-non-contrast-enhanced-mra-using-silent-scan-for-evaluation-of-brain-arteriovenous-malformation-a-case-report-and-review-of-literature
#10
Jin Il Moon, Hye Jin Baek, Kyeong Hwa Ryu, Hyun Park
RATIONALE: Brain arteriovenous malformations (AVMs) are congenital vascular abnormalities involving abnormal connections between arteries and veins. In clinical practice, imaging studies help evaluate feeding arteries, niduses, draining venous systems, and coexisting complications in patients with brain AVM. They also have an impact on decision-making regarding clinical management. We applied a novel non-contrast-enhanced MR angiography (MRA) technique, termed "silent MRA," for evaluating an incidental brain AVM...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137064/clinical-features-and-prognostic-factors-in-patients-with-intraventricular-hemorrhage-caused-by-ruptured-arteriovenous-malformations
#11
Zengpanpan Ye, Xiaolin Ai, Xin Hu, Fang Fang, Chao You
Intraventricular hemorrhage (IVH) was associated with poor outcomes in patients with intracerebral hemorrhage. IVH had a high incidence in patients with ruptured arteriovenous malformations (AVMs). In this study, we aimed to discuss the clinical features and prognostic factors of outcomes in the patients with AVM-related IVH.From January 2010 to January 2016, we collected the data of the patients with AVM-related IVH retrospectively. The data, including clinical and radiological parameters, were collected to evaluate the clinical features...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136354/-minimal-holoprosencephaly-in-a-14q-deletion-syndrome-patient
#12
Elvio Della Giustina, Alessandro Iodice, Carlotta Spagnoli, Simona Giovannini, Daniele Frattini, Carlo Fusco, Giuseppe Gobbi, Marcella Zollino, Giovanni Neri
We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29133714/options-for-the-management-of-brain-arteriovenous-malformations
#13
Rohen Harrichandparsad, D D Royston, S S Nadvi
No abstract text is available yet for this article.
November 2017: Neurology India
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#14
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29129659/generation-of-conditional-acvrl1-knockout-mice-by-crispr-cas9-mediated-gene-targeting
#15
Ming Xu, Hongzhi Xu, Jian Chen, Chunjui Chen, Feng Xu, Zhiyong Qin
OBJECTIVES: This study aimed to generate mutant mice containing the Acvrl1 gene flanked with LoxP sequences to allow conditional deletion ofAcvrl1 by the LoxP/Cre system. Such mice may facilitate the development of brain arteriovenous malformation (BAVM) models. METHODS: The CRISPR/Cas9 technique was used to edit Acvrl1. Two single guide RNAs (sgRNAs) with recognition sites on intron 3 and 8 and a donor vector that was homologous with the targeted gene and contained two LoxP sequences were designed and constructed...
November 9, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/29125445/morphometric-and-volumetric-comparison-of-102-children-with-symptomatic-and-asymptomatic-chiari-malformation-type-i
#16
Siri Sahib S Khalsa, Ndi Geh, Bryn A Martin, Philip A Allen, Jennifer Strahle, Francis Loth, Desale Habtzghi, Aintzane Urbizu Serrano, Daniel McQuaide, Hugh J L Garton, Karin M Muraszko, Cormac O Maher
OBJECTIVE Chiari malformation Type I (CM-I) is typically defined on imaging by a cerebellar tonsil position ≥ 5 mm below the foramen magnum. Low cerebellar tonsil position is a frequent incidental finding on brain or cervical spine imaging, even in asymptomatic individuals. Nonspecific symptoms (e.g., headache and neck pain) are common in those with low tonsil position as well as in those with normal tonsil position, leading to uncertainty regarding appropriate management for many patients with low tonsil position and nonspecific symptoms...
November 10, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29125025/choroid-plexus-avm-with-anomalous-origin-of-the-capsulothalamic-artery-a-case-report
#17
Shigeru Yamauchi, Taichiro Kawakami, Keiji Murata, Tomoya Ishiguro, Hidetoshi Ikeda, Akimasa Nishio
Background and importance Traditionally, it has been believed that the plexal segment of the anterior choroidal artery (AChoA) can be sacrificed safely. Here, we present a case of choroid plexus arteriovenous malformation (AVM) in which the capsulothalamic artery originated from distal plexal segment of the AChoA. Clinical presentation A 45-year-old man was diagnosed with arteriovenous malformation involving the left inferior horn in screening MRI. Preceding stereotactic radiosurgery, transarterial target embolization was performed...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29124649/angiotensin-receptor-blockade-a-novel-approach-for-symptomatic-radiation-necrosis-after-stereotactic-radiosurgery
#18
Mudit Chowdhary, Derick Okwan-Duodu, Jeffrey M Switchenko, Robert H Press, Jaymin Jhaveri, Zachary S Buchwald, Jim Zhong, Bhavana V Chapman, Ranjit S Bindra, Joseph N Contessa, Henry S Park, James B Yu, Roy H Decker, Jeffrey J Olson, Nelson M Oyesiku, Ross A Abrams, Hui-Kuo G Shu, Walter J Curran, Ian R Crocker, Kirtesh R Patel
Preclinical evidence suggests angiotensin blockade therapy (ABT) decreases late radiation toxicities. This study aims to investigate the association between ABT and symptomatic radiation necrosis (SRN) following stereotactic radiosurgery (SRS). Resected brain metastases (rBM) and arteriovenous malformation (AVM) patients treated with SRS from 2002 to 2015 were identified. Patients in the ABT cohort were on therapy during SRS and at 1-month follow up. Kaplan Meier method and cumulative incidence model were used to analyze overall survival (OS) and intracranial outcomes...
November 9, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29120564/developmental-venous-anomaly-serving-as-a-draining-vein-of-brain-arteriovenous-malformation
#19
Lukas Rasulić, Filip Vitošević, Krešimir Rotim, Svetlana Milošević Medenica, Dragoslav Nestorović
Developmental venous anomalies are cerebral vascular malformations that present normal venous drainage of cerebral tissue. With increased and accessible usage of modern diagnostic tools, they are now one of the most commonly diagnosed cerebral vascular malformations. Although developmental venous anomalies are considered to be benign lesions, association with arteriovenous malformation renders malignant potential to this combined pathology. In the case presented, these malformations were clinically silent and diagnosed accidentally, so they were not treated either with surgery, endovascular surgery or radiosurgery, considering the possible complications such as venous infarction of the brain, and because there was no obvious neurologic deficit related to this pathology...
March 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29114088/unruptured-brain-arteriovenous-malformations-primary-onyx-embolization-in-aruba-a-randomized-trial-of-unruptured-brain-arteriovenous-malformations-eligible-patients
#20
Uri Singfer, Dimitri Hemelsoet, Peter Vanlangenhove, Frederic Martens, Luc Verbeke, Dirk Van Roost, Luc Defreyne
BACKGROUND AND PURPOSE: In light of evidence from ARUBA (A Randomized Trial of Unruptured Brain Arteriovenous Malformations), neurovascular specialists had to reconsider deliberate treatment of unruptured brain arteriovenous malformations (uBAVMs). Our objective was to determine the outcomes of uBAVM treated with primary embolization using ethylene vinyl alcohol (ONYX). METHODS: Patients with uBAVM who met the inclusion criteria of ARUBA and were treated with primary Onyx embolization were assigned to this retrospective study...
November 7, 2017: Stroke; a Journal of Cerebral Circulation
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"