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https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#1
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/29755904/radiation-induced-cavernous-malformation-as-a-late-sequelae-of-stereotactic-radiosurgery-for-epilepsy
#2
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/29743740/evaluation-of-the-fetal-abdomen-by-magnetic-resonance-imaging-part-1-malformations-of-the-abdominal-cavity
#3
Ana Paula Pinho Matos, Luciana de Barros Duarte, Pedro Teixeira Castro, Pedro Daltro, Heron Werner Júnior, Edward Araujo Júnior
Although ultrasound continues to be the mainstay modality for the evaluation of fetal disorders, fetal magnetic resonance imaging (MRI) has often been used as a valuable adjunct in recent years. The exponential growth of the use of fetal MRI has been facilitated by technological advancements such as ultrafast T2-weighted sequences and diffusion-weighted imaging. Fetal MRI can achieve results that are comparable to or better than those of ultrasound, particularly in cases of maternal obesity, severe oligohydramnios, or abnormal fetal position...
March 2018: Radiologia Brasileira
https://www.readbyqxmd.com/read/29709429/mild-ventriculomegaly-from-fetal-consultation-to-neurodevelopmental-assessment-a-single-center-experience-and-review-of-the-literature
#4
Barbara Scelsa, Mariangela Rustico, Andrea Righini, Cecilia Parazzini, Marina Antonella Balestriero, Paola Introvini, Luigina Spaccini, Massimo Mastrangelo, Gianluca Lista, Gian Vincenzo Zuccotti, Pierangelo Veggiotti
OBJECTIVE: The aim of our study was to determine the outcome of fetuses with isolated mild ventriculomegaly, with prenatal imaging work-up, prenatal consultation, delivery and clinical follow-up performed in a single tertiary referring center. METHODS: Fetuses with isolated and non-progressive mild ventriculomegaly (10-15 mm) were included in the study. Inclusion criteria were as follows: singleton pregnancies, normal chromosomal analysis, normal serological evaluation of TORCH, fetal ultrasound and MRI excluding additional CNS or extra-CNS malformations...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29677701/surgical-treatment-and-long-term-outcome-of-cerebral-cavernous-malformations-related-epilepsy-in-pediatric-patients
#5
Qiao Lin, Peng-Fan Yang, Yan-Zeng Jia, Jia-Sheng Pei, Hui Xiao, Ting-Ting Zhang, Zhong-Hui Zhong, Shou-Sen Wang
Cerebral cavernous malformations (CMs) are vascular malformations affecting any part of the central nervous system. Clinical data and surgical outcomes for 27 pediatric patients with CM-related epilepsy were retrospectively reviewed. The mean age of onset was 12.71 ± 4.09 years, and the mean duration of epilepsy was 2.34 ± 1.95 years. All 27 patients were treated with microsurgery for resection of the CMs, and the hemosiderin rim, and the secondary epileptogenic zone if necessary. The mean follow-up period was 6...
April 20, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#6
Ahmed Y BoAli, Majid Alfadhel, Brahim Tabarki
Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways...
April 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29658509/-experimental-approaches-to-the-investigation-of-behavioral-disorders-associated-with-prenatal-alcohol-exposure
#7
E V Razumkina, P K Anokhin, T V Proskuryakova, I Yu Shamakina
Fetal alcohol spectrum disorders (FASD) is an umbrella term which covers a wide range of deficits in prenatal and postnatal growth, anatomy and CNS functions produced by prenatal alcohol exposure. The most severe form of FASD is fetal alcohol syndrome (FAS) characterized by additional specific craniofacial and brain malformations. Despite a high prevalence and extensive clinical studies, the fundamental mechanisms of FASD are still poorly understood. Thereby, experimental models, which allow better control for both socio-environmental and genetic factors, are critical to our understanding of FASD...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29649643/estimating-the-global-incidence-of-aneurysmal-subarachnoid-hemorrhage-a-systematic-review-for-central-nervous-system-vascular-lesions-and-meta-analysis-of-ruptured-aneurysms
#8
REVIEW
Joshua D Hughes, Kamila M Bond, Rania A Mekary, Michael C Dewan, Abbas Rattani, Ronnie Baticulon, Yoko Kato, Hildo Azevedo-Filho, Jacques J Morcos, Kee B Park
INTRODUCTION: There is increasing acknowledgement that surgical care is important in global health initiatives. In particular, neurosurgical care is as limited as 1-to-10 million people in parts of the world. We performed a systematic literature review to examine the worldwide incidence of central nervous system vascular lesions (CNS-VL) and a meta-analysis of aneurysmal subarachnoid hemorrhage (ASAH) in order to define the disease burden and inform neurosurgical global health efforts...
April 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29622715/chiari-malformation-and-tuberculous-meningitis-aetiology-and-management
#9
Jose Danilo Bengzon Diestro, Jesi Ellen Cueto Bautista, Abdelsimar T Omar Ii, James Garcia Mercado, Philip Asuncion Ramiro
This is the first reported case of a Chiari 1 malformation in association with tuberculous (TB) meningitis. We present a case of a 23-year-old woman with a 2-week history nocturnal fever, vertigo, headache and projectile vomiting. She had nystagmus, scanning speech, bilateral papilloedema and ataxia. Cranial imaging showed a 10 mm tonsillar herniation. Posterior fossa decompression was done. Because the patient's gamut of symptoms was highly suspicious for a central nervous system infection, a lumbar tap was done which revealed TB meningitis...
April 5, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29600422/balloon-and-coil-occlusion-of-a-superior-sagittal-sinus-cortical-vein-facilitates-percutaneous-supraorbital-venous-malformation-sclerotherapy
#10
Jacob J Bundy, Anthony N Hage, Jeffrey Forris Beecham Chick, Ravi N Srinivasa, Joseph J Gemmete
Venous malformations are the most common of all vascular anomalies. Venous malformations are treated using a multidisciplinary approach with sclerotherapy representing the primary treatment modality. While rare, sclerotherapy in the central nervous system carries the risk of venous thrombosis, non-target embolization, and venous infarction and hemorrhage. Options for controlling venous outflow when treating venous malformations in the head and neck are limited. This report details the use of balloon and coil occlusion of a superior sagittal sinus cortical vein to facilitate percutaneous sclerotherapy of a supraorbital venous malformation...
March 29, 2018: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/29578075/the-effects-of-maternal-diabetes-and-insulin-treatment-on-neurogenesis-in-the-developing-hippocampus-of-male-rats
#11
Akram Sadeghi, Ebrahim Esfandiary, Javad Hami, Hossein Khanahmad, Zahra Hejazi, Mohammad Mardani, Shahnaz Razavi
Diabetes in pregnancy is associated with an increasing risk of congenital malformations and central nervous system disorders (CNS) especially hippocampal neuronal circuitry disruption as a discreet region involved in neurogenesis phenomenon. This study aimed to investigate the effect of maternal diabetes and insulin treatment on the expression and distribution pattern of NeuN and DCX as two important markers of neurogenesis paradigm in developing rat hippocampus. All animals were randomly divided into three groups as follows: Control group, Diabetic (STZ-D), Diabetic treated with insulin (STZ-INS)...
March 22, 2018: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/29566995/radiotherapy-induced-cavernomas-in-adult-cancer-patients
#12
Bernardo Cacho-Díaz, Karen Salmerón-Moreno, Nydia Lorenzana-Mendoza, Armando Reyes, Sergio I Valdés-Ferrer, Gabriela Gómez-Ahumada, Gervith Reyes-Soto, Ángel Herrera-Gómez
Cerebral Cavernomas (CC) are vascular malformations located in the Central Nervous System (CNS) characterized by endothelium-lined vascular channels without parenchyma between them, whose main risk is hemorrhage. The aim of this study is to report adult cancer patients that developed CC after radiotherapy (RT) to the CNS during oncological surveillance.
March 19, 2018: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/29560948/-the-case-of-completed-pregnancy-of-the-patient-with-dandy-walker-malformation
#13
E V Beliaeva, L V Lapshina, E V Shaposhnikova, A A Molgachev
Dandy-Walker malformation is a rare disease of the central nervous system pathology (congenital malformations of the fossa cranii posterior). The key features of this syndrome are an enlargement of the fourth ventricle; complete absence of the cerebellar vermis, the posterior midline area of cerebellar cortex responsible for coordination of the axial musculature; and cyst formation near the internal base of the skull. Pregnant patients with Dandy-Walker malformation are at high risk and are managed by multidisciplinary teams including neurologists and obstetricians...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29538649/slit-robo-signalling-in-heart-development
#14
Juanjuan Zhao, Mathilda T M Mommersteeg
The Slit ligands and their Robo receptors are well-known for their roles during axon guidance in the central nervous system, but are still relatively unknown in the cardiac field. However, data from different animal models suggest a broad involvement of the pathway in many aspects of heart development, from cardiac cell migration and alignment, lumen formation, chamber formation, to the formation of the ventricular septum, semilunar and atrioventricular valves, caval veins and pericardium. Absence of one or more of the genes in the pathway results in defects ranging from bicuspid aortic valves to ventricular septal defects and abnormal venous connections to the heart...
March 10, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29527391/neurenteric-cyst-of-the-conus-medullaris
#15
D Diaz-Aguilar, T Niu, S Terterov, R Scharnweber, A Tucker, J Woodard, H Brara, C Merna, H Shah, S Wang, S Rahman
Background: Neurenteric cysts (NECs) are rare developmental malformations of the central nervous system (CNS) which originate as benign congenital lesions. They originate from developmental foregut precursors, and are presumed to be the result of abnormal partitioning of the embryonic notochord plate. Such NECs predominantly arise in the cervical region in patients around 6 years of age or in their twenties or thirties. Notably, NECs of the conus medullaris are exceedingly rare, especially in patients of advanced age...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29512828/strategies-and-dental-care-in-the-treatment-of-patients-with-myelomeningocele
#16
Leticia Bignardi, Talita Prates, Andiara De Rossi, Paulo Nelson-Filho, Fabrício Kitasono de Carvalho, Talitha de Siqueira Mellara, Alexandra Mussolino de Queiroz
Myelomeningocele (MMC) is a congenital malformation that occurs in the embryonic period, characterized by failure in closure of the caudal portion of the neural tube during central nervous system formation. Alterations and complications can be associated with this condition, such as hydrocephalus, neurogenic bladder, orthopedic problems, and motor and cognitive impairment. This patients with MMC also have predisposition to develop latex allergy and high caries risk and activity due to deficient oral hygiene, fermentable carbon hydrate-rich diet and prolonged use of sugar-containing oral medications...
March 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29502919/complex-phenotypes-in-inborn-errors-of-metabolism-overlapping-presentations-in-congenital-disorders-of-glycosylation-and-mitochondrial-disorders
#17
REVIEW
Thatjana Gardeitchik, Jeroen Wyckmans, Eva Morava
Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29499182/glucuronylated-core-1-glycans-are-required-for-precise-localization-of-neuromuscular-junctions-and-normal-formation-of-basement-membranes-on-drosophila-muscles
#18
Kazuyoshi Itoh, Yoshihiro Akimoto, Shu Kondo, Tomomi Ichimiya, Kazuhiro Aoki, Michael Tiemeyer, Shoko Nishihara
T antigen (Galβ1-3GalNAcα1-Ser/Thr) is an evolutionary-conserved mucin-type core 1 glycan structure in animals synthesized by core 1 β1,3-galactosyltransferase 1 (C1GalT1). Previous studies showed that T antigen produced by Drosophila C1GalT1 (dC1GalT1) was expressed in various tissues and dC1GalT1 loss in larvae led to various defects, including decreased number of circulating hemocytes, hyper-differentiation of hematopoietic stem cells in lymph glands, malformation of the central nervous system, mislocalization of neuromuscular junction (NMJ) boutons, and ultrastructural abnormalities in NMJs and muscle cells...
April 15, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29489402/abnormalities-associated-with-the-cavum-septi-pellucidi-on-fetal-mri-what-radiologists-need-to-know
#19
Usha D Nagaraj, Maria A Calvo-Garcia, Beth M Kline-Fath
OBJECTIVE: Screening the cavum septi pellucidi (CSP), more commonly referred to as the "cavum septum pellucidum," is a required component of the fetal anatomic survey during second-trimester ultrasound (US). The inability to identify the normal appearance of this structure warrants further evaluation because septal insufficiency is associated with multiple brain malformations. In this article, we discuss embryology, normal anatomy, and prenatal evaluation of the CSP as well as the differential diagnosis of associated abnormalities...
May 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29479449/meckel-gruber-syndrome-associated-with-anencephaly-an-unusual-reported-case
#20
Houda Nasser Al Yaqoubi, Nishat Fatema
Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities...
February 2018: Oxford Medical Case Reports
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