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https://www.readbyqxmd.com/read/28646619/early-insights-into-zika-s-microcephaly-physiopathology-from-the-epicentre-of-the-outbreak-teratogenic-apoptosis-on-the-central-nervous-system
#1
Patricia Jungmann, Pedro Pires, Edward Araujo
Foetal infection by the Zika virus has been implicated in the exceptional rise in the number of mycrocephalic newborns recorded by the end of 2015 in Brazil. The mechanism by which this teratogenic effect is produced in the developing brain has not been entirely established. Very early in the outbreak, we addressed this question by evaluating available initial data from a gestational and post-natal clinical investigation in the Brazilian state of Pernambuco. The present study was undertaken to test the hypothesis that the subtractive dysmorphic brain malformations observed in Zika's microcephaly are primarily due to the massive induction of apoptosis of neuroprogenitor cells...
June 24, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28645800/high-throughput-sequencing-of-the-entire-genomic-regions-of-ccm1-krit1-ccm2-and-ccm3-pdcd10-to-search-for-pathogenic-deep-intronic-splice-mutations-in-cerebral-cavernous-malformations
#2
Matthias Rath, Sönke E Jenssen, Konrad Schwefel, Stefanie Spiegler, Dana Kleimeier, Christian Sperling, Lars Kaderali, Ute Felbor
Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and their clinical relevance is yet unknown. Here, a long-range PCR (LR-PCR) approach for target enrichment of the entire genomic regions of the three genes was combined with next generation sequencing (NGS) to screen for coding and non-coding variants...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28643038/prevalence-of-cerebral-cavernous-malformations-associated-with-developmental-venous-anomalies-increases-with-age
#3
Waleed Brinjikji, Ali El-Rida El-Masri, John T Wald, Kelly D Flemming, Giuseppe Lanzino
BACKGROUND AND PURPOSE: To test the hypothesis that the prevalence of cerebral cavernous malformation (CCM) associated with developmental venous anomalies (DVAs) increases with age, we studied the age-related prevalence of DVA-associated CCM among patients with DVAs. MATERIALS AND METHODS: Patients with DVAs on contrast-enhanced MRI exams performed over a 2-year period were included in this study. A single neuroradiologist reviewed all imaging exams for the presence of CCMs...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28634821/cavernous-malformations-of-central-nervous-system-in-pediatric-patients-our-single-centered-experience-in-50-patients-and-review-of-literature
#4
Dattaraj Paramanand Sawarkar, Suveen Janmatti, Rajinder Kumar, Pankaj Kumar Singh, Hitesh Kumar Gurjar, Shashank Sharad Kale, Bhawani Shanker Sharma, Ashok Kumar Mahapatra
PURPOSE: Cavernous malformations (CMs) are rare developmental cerebrovascular malformations of the central nervous system with a childhood prevalence of 0.3 to 0.53%. Our purpose was to assess the clinical features and microsurgical outcome in pediatric central nervous system (CNS) CMs. MATERIAL AND METHODS: We retrospectively enrolled all the CM patients admitted to our institute from 1 January 2001 to 31 December 2014. Data was analyzed for their clinical features and surgical outcome...
June 20, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28628360/genetic-risk-factors-for-folate-responsive-neural-tube-defects
#5
Anne M Molloy, Faith Pangilinan, Lawrence C Brody
Neural tube defects (NTDs) are the most severe congenital malformations of the central nervous system. The etiology is complex, with both genetic and environmental factors having important contributions. Researchers have known for the past two decades that maternal periconceptional use of the B vitamin folic acid can prevent many NTDs. Though this finding is arguably one of the most important recent discoveries in birth defect research, the mechanism by which folic acid exerts this benefit remains unknown. Research to date has focused on the hypothesis that an underlying genetic susceptibility interacts with folate-sensitive metabolic processes at the time of neural tube closure...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#6
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28577344/associated-anomalies-in-cases-with-esophageal-atresia
#7
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
June 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28568972/fetal-cerebral-magnetic-resonance-neurosonography-the-multiverse-and-the-brave-new-world-of-fetal-medicine
#8
Gustavo Malinger, Dario Paladini, Gianluigi Pilu, Ilan E Timor
Stuart Campbell was the first to use the metaphor of the parallel universes discussing the utilization of ultrasound in pregnancy.(1) The controversy around the use of magnetic resonance imaging (MRI) versus sonography to diagnose cerebral malformations is just another example in this regard. In one spatio-temporal continuum fetal neurosonography allows an accurate diagnosis of central nervous system anatomy(2-5) and malformations (6-9) including complex lesions such as commissural anomalies (10, 11) , posterior fossa malformations (12, 13) , disruptions (14-16) , and cortical anomalies(17) ; it performs similarly to magnetic resonance in the second and third trimester(18, 19) ; eventually, it allows a precise diagnosis of many malformations since the first trimester...
May 31, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28553382/klippel-feil-syndrome-associated-with-sacral-agenesis-low-lying-cord-lipomyelomeningocele-and-split-cord-malformation-presenting-with-tethered-cord-syndrome-pentads-neural-tube-defects-spread-along-whole-spinal-axis
#9
Guru Dutta Satyarthee, Amandeep Kumar
Neural tube defects are congenital development anomaly of the central nervous system and usually have relatively more predilection to affect at anterior and posterior neuropore embryological development sites, so usually one or two defects are commonly encountered. However, occurrence of simultaneous multiple neural tube defects is very rare, presence of constellation of five neural defects is extremely rare, and all defects add up together to produce gross neurological deficit. We present an interesting case of a 23-year-old male who presented with history of lower backache and noticed wasting and weakness of lower limbs associated with difficulty in walking for the last 2 years but had no associated sphincter disturbances...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28552998/termination-of-pregnancy-for-medical-indications-under-sec-218a-para-2-of-the-german-criminal-code-real-life-data-from-the-gie%C3%A3-en-model
#10
Reinhard Dettmeyer, Juliane Lang, Roland Axt-Fliedner, Christoph Birngruber, Hans-Rudolf Tinneberg, Jan Degenhardt
Background Following the legal provisions on the termination of pregnancies in Art. 13 of the SFHG (Law on the Assistance for Pregnant Women and Families, passed on 27.07.1992, BGBl. I, p. 1398) the so-called embryopathic indication for termination was abandoned. Since then, sec. 218a para. 2 of the German Criminal Code (StGB) states that for late terminations, i.e., terminations after the 12th week of gestation post conception, the pregnant woman must be in exceptional distress "according to medical opinion"...
April 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28552158/epidemiology-genetics-pathophysiology-and-prognostic-classifications-of-cerebral-arteriovenous-malformations
#11
Alp Ozpinar, Gustavo Mendez, Adib A Abla
Arteriovenous malformations (AVMs) are vascular deformities involving fistula formation of arterial to venous structures without an intervening capillary bed. Such anomalies can prove fatal as the high arterial flow can disrupt the integrity of venous walls, thus leading to dangerous sequelae such as hemorrhage. Diagnosis of these lesions in the central nervous system can often prove challenging as intracranial AVMs represent a heterogeneous vascular pathology with various presentations and symptomatology. The literature suggests that most brain AVMs (bAVMs) are identified following evaluation of the etiology of acute cerebral hemorrhage, or incidentally on imaging associated with seizure or headache workup...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552154/spinal-cavernous-malformations
#12
Aaron J Clark, Doris D Wang, Michael T Lawton
Spinal cavernous malformations are rare intramedullary vascular lesions of the central nervous system. Most are located in the thoracic spine. Patients present with either acute neurologic deficit or gradual deterioration. Weakness is the most common presenting symptom. The annual hemorrhage risk is 2.1%. Diagnosis is made by magnetic resonance imaging as these lesions are occult on angiography. Surgical removal is indicated in patients with hemorrhage and neurologic deficit. All lesions are approached posteriorly by laminectomy...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552152/brainstem-and-cerebellar-cavernous-malformations
#13
Gursant S Atwal, Christina E Sarris, Robert F Spetzler
Cavernous malformations are vascular lesions that occur throughout the central nervous system, most commonly in the supratentorial location, with brainstem and cerebellar cavernous malformations occurring more rarely. Cavernous malformations are associated with developmental venous anomalies that occur sporadically or in familial form. Patients with a cavernous malformation can present with headaches, seizures, sensorimotor disturbances, or focal neurologic deficits based on the anatomic location of the lesion...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552148/arteriovenous-malformations-epidemiology-clinical-presentation-and-diagnostic-evaluation
#14
Joshua W Osbun, Matthew R Reynolds, Daniel L Barrow
Brain arteriovenous malformations (AVMs) represent an uncommon disease of the central nervous system characterized by an arteriovenous shunt in which one or multiple arterial pedicles feed into a vascular nidus, creating early drainage into a venous outflow channel. These lesions are considered to be congenital and can come to clinical attention in a variety of ways such as seizure, intracranial hemorrhage, chronic headache or progressive neurological deficit. We focus on the epidemiology, clinical presentation and diagnostic evaluation in this chapter...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552146/epidemiology-of-cavernous-malformations
#15
Hannah E Goldstein, Robert A Solomon
Cavernous malformations, accounting for approximately 5-15% of all vascular abnormalities in the central nervous system, are angiographically occult lesions which most often present with seizures, rather than acute hemorrhage. Widely variable across populations, the incidence of cavernous malformations has been reported to be 0.15-0.56 per 100 000 persons per year, with an annual hemorrhage rate of 0.6-11% per patient-year. Seen in 0.17-0.9% of the population, up to one-half are familial, and at least three gene loci have been associated with a familial form, more common among Hispanic Americans...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552144/natural-history-of-cerebral-cavernous-malformations
#16
Chibawanye Ene, Anand Kaul, Louis Kim
Cerebral cavernous malformations (CCM) are vascular abnormalities of the central nervous system with an incidence of 0.4-0.5% and an annual rate of hemorrhage ranging from 0.7% to 1%. Most lesions are located in the cerebral hemisphere but some occur in deeper locations such as the basal ganglia and pons. The most common symptoms during presentation are headache, seizures, and focal neurologic deficits. Surgery remains the most effective treatment modality for symptomatic CCM, while the management of incidental CCM remains controversial...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28540107/a-prospective-study-of-spectrum-risk-factors-and-immediate-outcome-of-congenital-anomalies-in-bida-north-central-nigeria
#17
Man Adeboye, M B Abdulkadir, O A Adegboye, A O Saka, P D Oladele, D M Oladele, E C Eze, O O Adeyemi, U Abubakar, A Grace, B F Rotimi
BACKGROUND: Congenital disorders are structural, metabolic, behavioral and functional disorders that are present at birth. Their manifestations are protean ranging from mild anomalies to life-threatening conditions. AIM: The objectives of this study were to describe the congenital anomalies in children seen at Federal Medical Center, Bida over a 12 month period, determine possible factors associated with these anomalies; and their short term outcome. SUBJECTS AND METHODS: Children with clinically recognized congenital malformations were recruited consecutively over a 12 month period and socio-demographic, etiologic and other relevant clinical data were obtained...
November 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28521822/central-nervous-system-manganese-induced-lesions-and-clinical-consequences-in-patients-with-hereditary-hemorrhagic-telangiectasia
#18
M M Serra, C H Besada, A Cabana Cal, A Saenz, C V Stefani, D Bauso, A B Golimstok, J C Bandi, D H Giunta, C M Elizondo
BACKGROUND: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved...
May 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28518043/congenital-malformations-of-calves-infected-with-shamonda-virus-southern-japan
#19
Yoshimasa Hirashima, Shoei Kitahara, Tomoko Kato, Hiroaki Shirafuji, Shogo Tanaka, Tohru Yanase
In 2015 and 2016, we observed 15 malformed calves that were exposed to intrauterine infection with Shamonda virus, a Simbu serogroup orthobunyavirus, in Japan. Characteristic manifestations were arthrogryposis and gross lesions in the central nervous system. Our results indicate that this arbovirus should be considered a teratogenic virus in ruminants.
June 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28501042/behavior-changes-and-gait-unsteadiness-the-value-of-imaging-and-prompt-neurosurgical-intervention
#20
Andreia Costa, Cláudia Marques-Matos, Carina Reis, Marta Carvalho, Madalena Pinto
Cavernous angiomas are central nervous system malformations. Most common manifestations are seizures and acute focal neurological deficits. We present a case report of a seventy-one year-old man with a two-month history of behavior changes, attention deficit and indifference followed by gait unsteadiness. Neuropsychological evaluation showed severe cognitive impairment and executive dysfunction. Head computed tomography depicted a supraventricular hydrocephaly. Magnetic resonance imaging revealed a small hemorrhage, contiguous to a mesencephalic cavernous angioma, obstructing the Sylvius aqueduct, causing secondary hydrocephalus...
January 31, 2017: Acta Médica Portuguesa
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