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Brain malformation

Suresh Giragani, Santhosh Kumar Pavunesan, Anandh Balasubramaniam
Cerebral proliferative angiopathy (CPA) is a rare vascular abnormality and separate from "classical" brain arteriovenous malformations. Haemorrhage due to proliferative angiopathy is rarely reported. We describe the clinical features, imaging findings and targeted endovascular management for a 12-year-old boy having proliferative angiopathy of the posterior fossa presenting with haemorrhage. Targeted endovascular embolisation in CPA is not previously described in the literature. The optimal treatment options for haemorrhagic CPA are debatable, and we wish to highlight the role of targeted treatment for culprit focal lesion demonstrable on imaging...
January 1, 2018: Interventional Neuroradiology
Ana Catarina Franco, Olympia Kremmyda, Jan Rémi, Soheyl Noachtar
OBJECTIVE: Positive interictal epileptiform discharges (IEDs) are rarely recorded from surface EEG, due to the orientation of the cortex and its neurons. Their frequency and significance in adults is unknown, and has only been studied as a phenomenon of the neonatal period and childhood. We aimed to evaluate the frequency and characteristics of positive epileptiform discharges in a large cohort of patients. METHODS: We retrospectively reviewed 24,178 reports from 18,060 patients of non-invasively recorded EEGs for various indications...
February 8, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Álvaro Sebastián-Serrano, Laura de Diego-García, David C Henshall, Tobías Engel, Miguel Díaz-Hernández
Hypophosphatasia (HPP) is a rare heritable metabolic bone disease caused by hypomorphic mutations in the ALPL (in human) or Akp2 (in mouse) gene, encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme. In addition to skeletal and dental malformations, severe forms of HPP are also characterized by the presence of spontaneous seizures. Initially, these seizures were attributed to an impairment of GABAergic neurotransmission caused by altered vitamin B6 metabolism. However, recent work by our group using knockout mice null for TNAP (TNAP-/-), a well-described model of infantile HPP, has revealed a deregulation of purinergic signaling contributing to the seizure phenotype...
2018: Frontiers in Pharmacology
Jae W Song, Gerlinde M Gruber, Janina M Patsch, Rainer Seidl, Daniela Prayer, Gregor Kasprian
Prenatal detection of abnormal white matter tracts might serve as a structural marker for altered neurodevelopment. As a result of many technical and patient-related challenges, the accuracy of prenatal tractography remains unknown. We hypothesized that characteristics of prenatal tractography of the corpus callosum and corticospinal tracts derived from fetal diffusion tensor imaging (DTI) data are accurate and predictive of the integrity of these tracts postnatally. We compared callosal and corticospinal tracts of 12 subjects with paired prenatal (age: 23-35 gestational weeks) and postnatal (age: 1 day to 2 years) DTI examinations (b values of 0 s/mm2 and 700 s/mm2 , 16 gradient encoding directions) using deterministic tractography...
April 2018: Pediatric Radiology
J J Brudvig, J T Cain, G G Schmidt-Grimminger, D J Stumpo, K J Roux, P J Blackshear, J M Weimer
Axons of the corpus callosum (CC), the white matter tract that connects the left and right hemispheres of the brain, receive instruction from a number of chemoattractant and chemorepulsant cues during their initial navigation towards and across the midline. While it has long been known that the CC is malformed in the absence of Myristoylated alanine-rich C-kinase substrate (MARCKS), evidence for a direct role of MARCKS in axon navigation has been lacking. Here, we show that MARCKS is necessary for Netrin-1 (NTN1) signaling through the DCC receptor, which is critical for axon guidance decisions...
March 15, 2018: Molecular Neurobiology
Rajani Singh, Rajnish Arora, Raj Kumar
Chiari malformations (CMs) are variant structural setup of cerebellum and brain stem at the craniovertebral junction. Normally the cerebellum and parts of the brain stem lie above the foramen magnum. When the part of the cerebellum and/or brainstem protrudes into the upper spinal canal through foramen magnum, it is defined as CM. Chiari malformations may develop when part of the skull is smaller than normal or misshapen, due to which the cerebellum herniates into spinal canal through foramen magnum. This compresses the cerebellum and brainstem affecting functions controlled by these parts and blocks the flow of cerebrospinal fluid that surrounds and cushions the brain and spinal cord...
March 14, 2018: Journal of Craniofacial Surgery
Furkan Diren, Serra Sencer, Tayfun Hakan
Objective: Arteriovenous malformation (AVM) is the most common form of intracranial vascular malformations in adults. Intracranial pediatric AVMs are rare. AVM located in the vicinity of the brain stem in children are even more rare. Case report: This study reports a rare case of acute obstructive hydrocephalus following aqueductal stenosis caused by an unruptured grade IV perimesencephalic arteriovenous malformation. An 11-year-old boy admitted to the hospital with progressive headache, nausea and vomiting throughout a month...
2018: Open Neuroimaging Journal
Vicente Perez-Garcia, Elena Fineberg, Robert Wilson, Alexander Murray, Cecilia Icoresi Mazzeo, Catherine Tudor, Arnold Sienerth, Jacqueline K White, Elizabeth Tuck, Edward J Ryder, Diane Gleeson, Emma Siragher, Hannah Wardle-Jones, Nicole Staudt, Neha Wali, John Collins, Stefan Geyer, Elisabeth M Busch-Nentwich, Antonella Galli, James C Smith, Elizabeth Robertson, David J Adams, Wolfgang J Weninger, Timothy Mohun, Myriam Hemberger
Large-scale phenotyping efforts have demonstrated that approximately 25-30% of mouse gene knockouts cause intrauterine lethality. Analysis of these mutants has largely focused on the embryo and not the placenta, despite the crucial role of this extraembryonic organ for developmental progression. Here we screened 103 embryonic lethal and sub-viable mouse knockout lines from the Deciphering the Mechanisms of Developmental Disorders program for placental phenotypes. We found that 68% of knockout lines that are lethal at or after mid-gestation exhibited placental dysmorphologies...
March 14, 2018: Nature
Michael Kerin Morgan, Mathew Guilfoyle, Ramez Kirollos, Gillian Z Heller
BACKGROUND: Avoiding the risk of postoperative hemorrhage after brain arteriovenous malformation (AVM) resection involves aggressive blood pressure control. Remodeling of the feeding arterial system is critical in reducing this risk. OBJECTIVE: To investigate factors predicting time to return to normal on digital subtraction angiography (DSA) after AVM resection. METHODS: For AVM in which the largest feeding artery (FA) on DSA was in the anterior circulation, the preoperative and postoperative diameter of the FA were compared with the diameter of the internal carotid artery (IC) immediately proximal to the posterior communicating artery...
March 12, 2018: Neurosurgery
Haruhiko Shiiya, Yasuhiro Suzuki, Shigeo Yamazaki, Kichizo Kaga
BACKGROUND: Pulmonary arteriovenous malformations (PAVMs) can be associated with life-threatening complications such as paradoxical embolization, cerebral abscess, and hemothorax. Therefore, all adults with PAVMs should be offered treatment. Percutaneous transcatheter embolization is the first-line treatment, but 5-25% of cases require further treatment due to persistence after embolization. Recently, the role of minimally invasive thoracic surgery as a definitive treatment has been evaluated...
March 12, 2018: Surgical Case Reports
Valentina Baro, Renzo Manara, Luca Denaro, Domenico d'Avella
PURPOSE: Dandy-Walker malformation is a rare condition due to imperforation of the Blake's pouch during intrauterine brain development, usually leading to early severe hydrocephalus. The association with holocord syringomyelia is rare, and from the Gardner's first report in 1957, only 23 cases have been described, mostly from autopsy series and pre-MRI period. Besides a worsening of clinical picture, its occurrence generates some concern about the best surgical treatment that varies widely among the literature reports...
March 12, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Taichi Ishiguro, Masayuki Nitta, Takashi Komori, Takashi Maruyama, Yoshihiro Muragaki, Takakazu Kawamata
BACKGROUND: Transient focal MRI abnormalities after status epilepticus (SE) are rarely seen in patients with benign brain tumors, and the underlying mechanism is still unknown. We report a rare case of cerebral cavernous malformation with transient focal MRI abnormalities around the tumor and accumulation of 11C-methionine on PET after SE. These findings mimicked those of a glioma because the MRI and methionine PET findings were similar. We also speculate about the cause of this phenomenon in relation to pathological findings of this case...
March 9, 2018: World Neurosurgery
David Yuen Chung Chan, Danny Tat Ming Chan, Cannon Xian Lun Zhu, Patricia Kwok Yee Kan, Amelia Yikjin Ng, Yi-Pin Sonia Hsieh, Jill Abrigo, Wai Sang Poon, George Kwok Chu Wong
Treatment of arteriovenous malformations (AVM) located at the eloquent area has been a challenge. Awake brain mapping allows identification of a non-eloquent gyrus for intervention and can potentially facilitate resection with preservation of functions. An alternative treatment option is stereotactic radiosurgery (SRS). The objective of this study was to perform a qualitative comparison of the treatment outcome of awake AVM excision versus SRS. We conducted a 13-year retrospective review of AVM excision under awake craniotomy performed at Prince of Wales Hospital, Hong Kong, from 2003 to 2016...
March 9, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Angelina Kakooza-Mwesige, Abdul H Mohammed, Krister Kristensson, Sharon L Juliano, Julius J Lutwama
The global public health concern is heightened over the increasing number of emerging viruses, i.e., newly discovered or previously known that have expanded into new geographical zones. These viruses challenge the health-care systems in sub-Saharan Africa (SSA) countries from which several of them have originated and been transmitted by insects worldwide. Some of these viruses are neuroinvasive, but have been relatively neglected by neuroscientists. They may provide experiments by nature to give a time window for exposure to a new virus within sizeable, previously non-infected human populations, which, for instance, enables studies on potential long-term or late-onset effects on the developing nervous system...
2018: Frontiers in Neurology
Elias Oulasvirta, Päivi Koroknay-Pál, Ahmad Hafez, Ahmed Abou Elseoud, Hanna Lehto, Aki Laakso
BACKGROUND: Population-based long-term data on pediatric patients with cerebral arteriovenous malformations (AVMs) are limited. OBJECTIVE: To clarify the characteristics and long-term outcome of pediatric patients with AVM. METHODS: A retrospective analysis was performed on 805 consecutive brain AVM patients admitted to a single center between 1942 and 2014. The patients were defined as children if they were under 18 yr at admission. Children were compared to an adult cohort...
March 5, 2018: Neurosurgery
Hasan Önal, Atilla Ersen, Hakan Gemici, Erdal Adal, Serhat Güler, Serdar Sander, Sait Albayram
Spontaneous intracranial hypotension (SIH) is a rare and potentially serious condition in childhood. Cerebrospinal fluid (CSF) volume depletion is thought to be the main causative feature for intracranial hypotension, results from spontaneous CSF leak, often at the spine level. SIH is increasingly diagnosed in clinical practice, although it manifests into a variegated symptomatology. Indeed, downward displacement of the brain, sometimes mimicking a Chiari I malformation, but concomitant presentation of these syndromes has rarely been reported...
February 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
Cinzia Antognelli, Eliana Trapani, Simona Delle Monache, Andrea Perrelli, Claudia Fornelli, Francesca Retta, Paola Cassoni, Vincenzo Nicola Talesa, Saverio Francesco Retta
This article contains additional data related to the original research article entitled "KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: implication for Cerebral Cavernous Malformation disease" (Antognelli et al., 2017) [1]. Data were obtained by si-RNA-mediated gene silencing, qRT-PCR, immunoblotting, and immunohistochemistry studies, and enzymatic activity and apoptosis assays. Overall, they support, complement and extend original findings demonstrating that KRIT1 loss-of-function induces a redox-sensitive and JNK-dependent sustained upregulation of the master Nrf2 antioxidant defense pathway and its downstream target Glyoxalase 1 (Glo1), and a drop in intracellular levels of AP-modified Hsp70 and Hsp27 proteins, leading to a chronic adaptive redox homeostasis that sensitizes cells to oxidative DNA damage and apoptosis...
February 2018: Data in Brief
Jing Yu, Ning Xu, Ying Zhao, Jinlu Yu
The anterior choroidal artery (AChA) is a critical artery in brain physiology and function. The AChA is involved in many diseases, including aneurysm, brain infarct, Moyamoya disease (MMD), brain tumor, arteriovenous malformation (AVM), etc. The AChA is vulnerable to damage during the treatment of these diseases and is thus a very important vessel. However, a comprehensive systematic review of the importance of the AChA is currently lacking. In this study, we used the PUBMED database to perform a literature review of the AChA to increase our understanding of its role in neurophysiology...
2018: International Journal of Medical Sciences
Vanessa Siffredi, Vicki Anderson, Alissandra McIlroy, Amanda G Wood, Richard J Leventer, Megan M Spencer-Smith
OBJECTIVES: Agenesis of the corpus callosum (AgCC), characterized by developmental absence of the corpus callosum, is one of the most common congenital brain malformations. To date, there are limited data on the neuropsychological consequences of AgCC and factors that modulate different outcomes, especially in children. This study aimed to describe general intellectual, academic, executive, social and behavioral functioning in a cohort of school-aged children presenting for clinical services to a hospital and diagnosed with AgCC...
March 7, 2018: Journal of the International Neuropsychological Society: JINS
Giovanni Tringali, Beatrice Bono, Ivano Dones, Roberto Cordella, Giuseppe Didato, Flavio Villani, Francesco Prada
BACKGROUND: Type II focal cortical dysplasia is the most common malformation of cortical development associated with drug resistant epilepsy and susceptible to surgical resection. Although advanced imaging modalities are nowadays capable to detect the majority of such cortical disorders, it is still a challenge for the surgeon to visualize them intraoperatively. The lack of direct boundaries' identification between normal brain and subtle dysplastic tissue may explain poor results in terms of seizure-free patients compared to other forms of epilepsy...
March 3, 2018: World Neurosurgery
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