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Encephalocele

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https://www.readbyqxmd.com/read/28885087/encephalocele-development-from-a-congenital-meningocele-case-report
#1
Gurpreet S Gandhoke, Ezequiel Goldschmidt, Robert Kellogg, Stephanie Greene
A fetal MRI study obtained at 21 weeks' gestation revealed a suboccipital meningocele without hydrocephalus. One day after term birth, MRI demonstrated an acquired cerebellar encephalocele, and MRI obtained 5 months later showed progressive enlargement of the encephalocele, still without obvious hydrocephalus. The patient underwent an operation in which an external ventricular drain was placed, the grossly normal cerebellum was reduced into the posterior fossa without resection, and the dural defect was closed...
September 8, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28877829/major-metabolite-levels-of-preoperative-proton-magnetic-resonance-sectroscopy-and-intraoperative-fluorescence-intensity-in-glioblastoma
#2
Hai-Long Tian, Yu-Liang Zu, Chao-Chao Wang, Tao Lin, Zhen-Tao Guo, Bin Jiang, Xin Yin, Wen-Qiang Guo, Zhi-Gang Wang
Objective To compare the intraoperative major metabolite level of preoperative proton magnetic resonance spectroscopy((1)H-MRS)and fluorescence intensity marked with fluorescein sodium(FLs)in glioblastoma(GBM)and thus provide an objective basis for fluorescence surgical treatment of GBM. Methods All newly diagnosed patients by plain and enhanced magnetic resonance imaging from the April 1,2014 to December 31,2015 were enrolled in this study.All of them received (1)H-MRS and marked with FLs.The expression of Ki67 in tumor boundary were confirmed by postoperative pathology and determined by immunostaining assay...
August 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28835044/-clinical-efficacy-of-acute-intraoperative-encephalocele-prevention-strategy-for-severe-traumatic-brain-injury
#3
Z L Zhang, W M Liu, Y Zhang, G H Wang, C Yan, Y Y Su, Q B Huang
Objective: To explore the clinical efficacy of prevention strategy for acute intraoperative encephalocele of patients with severe traumatic brain injury (sTBI). Methods: A total of 173 patients with sTBI, who treated in Emergency Neurosurgery Department of Shandong University Qilu Hospital from January, 2011 to September, 2015 were collected and divided into research group and control group, according to their therapeutic strategy.The clinical data during hospitalization and prognosis 1 year after injury was analyzed retrospectively to clarify the effect of acute encephalocele prevention strategy...
August 15, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28812468/the-first-reported-case-of-meckel-gruber-syndrome-associated-with-abnormal-karyotype-mosaic-trisomy-17
#4
Zuzana Cierna, Pavol Janega, Frantisek Grochal, Vladimir Ferianec, Tatiana Braxatorisova, Lucia Strieskova, Jana Malova, Petra Jungova, Tomas Szemes
Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28802374/secondary-encephalocele-in-infant-following-subdural-empyema-repaired-endoscopically-a-case-report
#5
Roshan K Verma, Navjot Kaur
Subdural empyema (SDE) is an uncommon entity, mostly associated with meningitis and can be life threatening in infants. Rarely, a subdural empyema can lead to nasal encephalocele which can be challenging situation to manage especially in infant. We present a case of 7 month old infant who presented with subdural empyema that led to formation of nasal encaphalocele after 4 months which was managed endoscopic route.
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28799867/endoscope-assisted-repair-of-csf-otorrhea-and-temporal-lobe-encephaloceles-via-keyhole-craniotomy
#6
Pamela C Roehm, Derrick Tint, Norman Chan, Ryan Brewster, Vishad Sukul, Kadir Erkmen
OBJECTIVE Temporal lobe encephaloceles and cerebrospinal fluid otorrhea from temporal bone defects that involve the tegmen tympani and mastoideum are generally repaired using middle fossa craniotomy, mastoidectomy, or combined approaches. Standard middle fossa craniotomy exposes patients to dural retraction, which can lead to postoperative neurological complications. Endoscopic and minimally invasive techniques have been used in other surgeries to minimize brain retraction, and so these methods were applied to repair the lateral skull base...
August 11, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28763666/are-concentrations-of-alkaline-earth-elements-in-maternal-hair-associated-with-risk-of-neural-tube-defects
#7
Zhenjiang Li, Bin Wang, Wenhua Huo, Yingying Liu, Yibing Zhu, Jing Xie, Zhiwen Li, Aiguo Ren
The relationship between maternal intake of alkaline earth elements (AEEs) during the period of neural tube closure and the risk of neural tube defects (NTDs) is still unclear. We propose that AEE deficiency during the early period of pregnancy is associated with an elevated risk of NTDs in the offspring. In this study, we recruited 191 women with NTD-affected pregnancies (cases) and 261 women who delivered healthy infants (controls). The concentrations of four AEEs (Ca, Mg, Sr, Ba) in maternal hair sections that grew during early pregnancy were analyzed...
December 31, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28689974/endoscopic-surgery-for-sinonasal-tumors-the-transcribriform-approach
#8
T Radulesco, M Penicaud, P Dessi, J Michel
Over the past 10 to 20 years, endoscopic endonasal surgery has become for many teams the preferred treatment for sinonasal tumors. Technical advances in the field of surgical instrumentation (good visualization, hemostasis…) and the progress of imaging guidance (to avoid neurovascular complication) has made those procedures simpler and safer. Nevertheless, endonasal endoscopic procedures require a trained surgical team of ENT specialist and neurosurgeon. Endoscopic endonasal surgery has been reported to be feasible for all types of sinonasal tumors whether benign tumors such as inverted papillomas, or malignant tumors...
September 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28678053/raised-frequency-of-central-nervous-system-malformations-related-to-zika-virus-infection-in-two-birth-defects-surveillance-systems-in-bogot%C3%A3-and-cali-colombia
#9
Paula Hurtado-Villa, Angie K Puerto, Salomé Victoria, Gloria Gracia, Lesly Guasmayán, Patricia Arce, Gilberto Álvarez, Esperanza Blandón, Nubia Rengifo, Jorge A Holguín, Alexander Durán, Ignacio Zarante
Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. Colombia has been experiencing an epidemic wave of Zika infection, starting approximately in October 2015. Here we document the trends of microcephaly and severe CNS malformations in two major cities in Colombia from 2012 through 2016, tracking the epidemiologic curve from before through the major Zika epidemic so far. METHODS: The study included neural tube defects (anencephaly, spina bifida, encephalocele), holoprosencephaly, and hydrocephaly...
July 1, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28668954/lipoencephalocele-in-a-child-an-uncommon-swelling-in-the-occipital-region
#10
Ajay Kumar Verma, Anand Pandey, Digamber Chaubey, Kanoujia Sunil, Archika Gupta, Shiv Narain Kureel
Neural tube defects are common congenital malformations of the central nervous system. The 3 most common neural tube defects are anencephaly, myelomeningocele, and encephalocele. Lipoencephalocele is an extremely uncommon entity with sporadic reports in the literature. We treated a 4-year-old gild with occipital lipoencephalocele. This report presents the clinical presentation and management of the patient along with a review of the relevant literature.
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28665386/-modern-diagnosis-and-treatment-in-children-with-congenital-basal-encephalocele
#11
A V Sakharov, V V Roginskiy, D N Kapitanov, A L Ivanov, E V Shelesko, S K Gorelyshev, A A Evteev, N V Lemeneva, D N Zinkevich, Yu A Kochkin, V I Ozerova, L A Satanin
Basal encephalocele is a rare disease that predominantly occurs in children. Its most common symptoms include nasal liquorrhea, difficulty in nasal breathing, and deformity of the naso-orbital region. MATERIAL AND METHODS: The study group included 19 patients with basal encephalocele, aged 2 months to 18 years. Ten (59%) patients were operated on through a transnasal endoscopic approach; 3 (17.5%) patients were operated on through a transcranial approach; 4 (23.5%) patients were operated on using a combined approach: the patients underwent simultaneous elimination of a cranio-orbital region deformity using the basal transcranial approach as well as hernial sac resection and hernioplasty using the transnasal endoscopic approach...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#12
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#13
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/28602933/familial-epilepsy-with-anterior-polymicrogyria-as-a-presentation-of-col18a1-mutations
#14
Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renée Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz
Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made...
August 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28599099/clinical-and-molecular-genetic-characterization-of-two-siblings-with-trisomy-2p24-3-pter-and-monosomy-5p14-3-pter
#15
Daisuke Fukushi, Kenji Kurosawa, Yasuyo Suzuki, Kaoru Suzuki, Kenichiro Yamada, Seiji Watanabe, Kenji Yokochi, Nobuaki Wakamatsu
Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter caused by the paternal translocation t(2;5)(p24.3;p14.3). Of the two siblings, the elder sister had spina bifida...
August 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28593008/meckel-gruber-syndrome-ultrasonographic-and-fetal-autopsy-correlation
#16
Shruti Khurana, Vikram Saini, Vibhor Wadhwa, Harveen Kaur
Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.
June 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/28579621/fetal-pathology-of-neural-tube-defects-an-overview-of-68-cases
#17
Katharina Schoner, Roland Axt-Fliedner, Rainer Bald, Barbara Fritz, Juergen Kohlhase, Thomas Kohl, Helga Rehder
INTRODUCTION: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%...
May 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28555310/antenatal-management-of-fetal-neurosurgical-diseases
#18
Sergio Cavalheiro, Marcos Devanir Silva da Costa, Jardel Nicacio Mendonça, Patricia Alesssandra Dastoli, Italo Capraro Suriano, Mauricio Mendes Barbosa, Antonio Fernandes Moron
The advance in the imaging tools during the pregnancy (ultrasound and magnetic resonance) allowed the early diagnose of many fetal diseases, including the neurological conditions. This progress brought the neurosurgeons the possibility to propose treatments even before birth. Myelomeningocele is the most recognized disease that can be treated during pregnancy with a high rate of success. Additionally, this field can be extended to other conditions such as hydrocephalus and encephaloceles. However, each one of these diseases has nuances in the diagnostic evaluation that should fit the requirements to perform the fetal procedure and overbalance the benefits to the patients...
July 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28553380/giant-occipital-meningoencephalocele-in-a-neonate-a-therapeutic-challenge
#19
Vikul Kumar, S Bhaikhel Kulwant, Suman Saurabh, S Chauhan Richa
Encephalocele is a rare lesion, being an embryological mesodermal anomaly which results in a defect in the cranium and dura, associated with herniation of meninges, cerebrospinal fluid, or brain tissues through a defect usually covered by scalp. Surgical management of children with giant occipital encephalocele requires careful attention to pediatric anesthetic and surgical principles. We present a case of a giant occipital encephalocele highlighting the problems encountered in its management.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28523088/treatment-of-a-large-traumatic-encephalocele-with-titanium-mesh
#20
Alan Motta do Canto, Manuela Monteiro Pinotti, Fernando Alves Maciel, Alexandre Bossi Todeschini, Guilherme Brasileiro Aguiar, Ronaldo Rodrigues de Freitas
Encephalocele is defined as protrusion of cranial contents beyond the normal confines of the skull. Although most encephalocele cases have a congenital etiology, fractures of the skull base can cause traumatic encephalocele. In most encephalocele cases, the bone defect presents reduced dimensions and the endoscopic treatment is generally performed to reconstruct the area using mucosal and/or fat grafts. This article sought to report on a rare case of traumatic encephalocele associated with an extensive defect of the anterior skull base...
June 2017: Craniomaxillofacial Trauma & Reconstruction
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