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Encephalocele

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https://www.readbyqxmd.com/read/28316901/symptomatic-parietal-intradiploic-encephalocele-a-case-report-and-literature-review
#1
Chen Shi, Bruno Flores, Stephen Fisher, Samuel L Barnett
Encephalocele is a rare condition that consists of herniation of cerebral matter through openings of dura and skull. A majority of encephaloceles are congenital and manifest in childhood. We present a case of a 45-year-old man presenting with contralateral hemiparesis and found to have an extremely rare phenomenon of a symptomatic posttraumatic parietal intradiploic encephalocele (IE) manifesting 36 years following pediatric traumatic head injury. Computed tomography and magnetic resonance imaging confirmed herniation of brain tissue into the intradiploic space...
January 2017: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/28295209/a-nonsense-mutation-in-cep55-defines-a-new-locus-for-a-meckel-like-syndrome-an-autosomal-recessive-lethal-fetal-ciliopathy
#2
Marie-Louise Bondeson, Katharina Ericson, Sanna Gudmundsson, Adam Ameur, Fredrik Pontén, Jan Wesström, Carina Frykholm, Maria Wilbe
Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. We have used whole exome sequencing (WES) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with two affected fetuses...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28288478/benign-temporomandibular-joint-lesions-presenting-as-masses-in-the-external-auditory-canal
#3
Ryan A Williams, Robert K Jackler, C Eduardo Corrales
OBJECTIVE: Describe benign lesions arising from the temporomandibular joint (TMJ) that presented as masses in the external auditory canal (EAC). STUDY DESIGN: Retrospective case series of two academic medical centers. PATIENTS: Six patients with lesions emanating from the TMJ that presented as EAC masses. Lesions included pigmented villonodular synovitis (PVNS), nodular fasciitis, foramen of Huschke herniation with salivary fistula, fibroepithelial polyp, superficial angiomyxoma, and giant cell tumor (GCT)...
April 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28239903/subcutaneous-midline-nasal-mass-in-an-infant-due-to-an-intramuscular-lipoma
#4
Jessica Vincent, Peter Baker, Jonathan Grischkan, Esteban Fernandez Faith
Intramuscular lipomas are rare, benign, mesenchymal tumors occurring deep in the fascia, typically involving large muscle groups in adults. We report a case of an intramuscular lipoma occurring as a subcutaneous midline nasal mass in a 3-month-old infant. The differential diagnosis of a midline mass on the glabella of an infant is important and should include developmental anomalies such as nasal glioma, nasal dermoid cyst, and encephalocele, so neuroimaging is an essential first step in evaluating these lesions to exclude intracranial extension...
February 27, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28217161/posttraumatic-giant-fronto-orbito-encephalocele-causing-cosmetic-disfiguring-forehead-swelling-with-proptosis-management
#5
Guru Dutta Satyarthee, Amandeep Kumar
Fracture of the anterior skull base can occur following head injury. Growing skull fracture is usually observed in children under age of 3-years. It commonly involves frontal and parietal regions. However, orbit involvement is extremely uncommon. Authors report a case of giant orbital encephalocele with a forehead disfiguring swelling in a 4-years boy, who sustained head injury about 3½ years back. However, such delayed presentation of traumatic encephalocele is extremely uncommon and represents the first case in the Western literature, who had a successful postoperative outcome...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217159/managing-tracheal-extubation-in-infants-with-stridor-and-congenital-neuraxial-anomalies
#6
Deepti Saigal, Pragati Ganjoo, Megha U Sharma, Daljit Singh
Stridor is a serious complication of congenital neuraxial anomalies, which though, can get completely resolved with early neurosurgical correction of the anomaly. However, stridor relief may or may not be achieved soon after surgery. Persistent postoperative stridor can potentially cause extubation failure that may be difficult to handle in small children. There are no extubation guidelines for difficult pediatric airways as yet, and fewer appropriate airway-assist devices for routine use. Management of an infant with occipital encephalocele, hydrocephalus and bilateral abductor vocal cord palsy, who developed post-extubation respiratory distress due to stridor is discussed, together with the relevant tracheal extubation issues in such cases...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28210402/interdisciplinary-management-of-minimally-displaced-orbital-roof-fractures-delayed-pulsatile-exophthalmos-and-orbital-encephalocele
#7
Austin Y Ha, William Mangham, Sarah A Frommer, David Choi, Petra Klinge, Helena O Taylor, Adetokunbo A Oyelese, Stephen R Sullivan
Traumatic orbital roof fractures are rare and are managed nonoperatively in most cases. They are typically associated with severe mechanisms of injury and may be associated with significant neurologic or ophthalmologic compromise including traumatic brain injury and vision loss. Rarely, traumatic encephalocele or pulsatile exophthalmos may be present at the time of injury or develop in delayed fashion, necessitating close observation of these patients. In this article, we describe two patients with minimally displaced blow-in type orbital roof fractures that were later complicated by orbital encephalocele and pulsatile exophthalmos, prompting urgent surgical intervention...
March 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28177882/time-trends-in-the-prevalence-and-epidemiological-characteristics-of-neural-tube-defects-in-liaoning-province-china-2006-2015-a-population-based-study
#8
Tie-Ning Zhang, Ting-Ting Gong, Yan-Ling Chen, Qi-Jun Wu, Yuan Zhang, Cheng-Zhi Jiang, Jing Li, Li-Li Li, Chen Zhou, Yan-Hong Huang
To evaluate the time trends in the prevalence of neural tube defects and all their subtypes as well as to identify the epidemiological characteristics of these malformations documented in the Liaoning Province of northeast China from 2006 to 2015. This was a population-based observational study using data from 3,248,954 live births as well as from 6217 cases of neural tube defects, 1,600 cases of anencephaly, 2,029 cases of spina bifida, 404 cases of encephalocele, and 3,008 cases of congenital hydrocephalus from 14 cities in Liaoning Province from 2006 to 2015...
February 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28147383/incidence-of-secondary-hydrocephalus-after-excision-of-huge-encephaloceles-in-neonates-case-study
#9
Ehab Ahmed El Refaee, Mohamed Ibrahim Refaat, Mohamed Reda
Background Encephaloceles presents as a protrusion of the cranial contents through a defect in the cranium. The most common sites of occurrence are the occipital and frontonasal regions. The surgical outcome is reported to be satisfactory; however, the incidence of hydrocephalus in patients with encephaloceles is variable in the literature. This study investigated the relationship between the size of the encephaloceles and the occurrence of hydrocephalus. Patient and Methods Data of all neonates with encephaloceles who presented to our institution from September 2012 to September 2014 were collected...
February 1, 2017: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/28121968/outcomes-of-the-suture-pull-through-technique-for-repair-of-lateral-skull-base-csf-fistula-and-encephaloceles
#10
Brendan P O'Connell, Jacob B Hunter, Alex D Sweeney, Reid C Thompson, Lola B Chambless, George B Wanna, Alejandro Rivas
OBJECTIVE: Describe the safety profile and surgical outcomes of a combined transmastoid-middle cranial fossa suture "pull-through" technique for repair of lateral skull base defects. STUDY DESIGN: Retrospective. SETTING: Tertiary care hospital. PATIENTS: Patients undergoing surgery for cerebrospinal fluid (CSF) fistula and/or encephalocele. INTERVENTION: Combined transmastoid and middle fossa approach using suture pull-through technique...
March 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28106514/endonasal-management-of-pediatric-congenital-transsphenoidal-encephaloceles-nuances-of-a-modified-reconstruction-technique-technical-note-and-report-of-3-cases
#11
Mehdi Zeinalizadeh, Seyed Mousa Sadrehosseini, Zohreh Habibi, Farideh Nejat, Harley Brito da Silva, Harminder Singh
OBJECTIVE Congenital transsphenoidal encephaloceles are rare malformations, and their surgical treatment remains challenging. This paper reports 3 cases of transsphenoidal encephalocele in 8- to 24-month-old infants, who presented mainly with airway obstruction, respiratory distress, and failure to thrive. METHODS The authors discuss the surgical management of these lesions via a minimally invasive endoscopic endonasal approach, as compared with the traditional transcranial and transpalatal approaches. A unique endonasal management algorithm for these lesions is outlined...
March 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28092970/surgery-of-anterior-skull-base-lesions-in-children
#12
Thomas Karl Hoffmann, Marc Oliver Scheithauer, Fabian Sommer, Jörg Lindemann, Ernst-Johannes Haberl, Ulrike Friebe-Hoffmann, Marie-Nicole Theodoraki
INTRODUCTION: Lesions affecting the anterior skull base represent a rare group of craniofacial pathologies. A tumor of the facial midline, meningitis, or rhinoliquorrhea may be indicative of malformations like dermoid cysts, gliomas, encephaloceles, or nasal fistulas. METHODS: We present a case series of 13 children (4 months to 12 years; 8 males, 5 females) with lesions involving the anterior skull base, which were treated surgically in an interdisciplinary setting...
January 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/27993731/nontraumatic-orbital-roof-encephalocele
#13
Amber Hoang, Todd Maugans, Thang Ngo, Jamie Ikeda
Intraorbital meningoencephaloceles occur most commonly as a complication of traumatic orbital roof fractures. Nontraumatic congenital orbital meningoncephaloceles are very rare, with most secondary to destructive processes affecting the orbit and primary skull defects. Treatment for intraorbital meningoencephaloceles is surgical repair, involving the excision of herniated brain parenchyma and meninges and reconstruction of the osseous defect. Most congenital lesions present in infancy with obvious globe and orbital deformities; we report an orbital meningoencephalocele in a 3-year-old girl who presented with ptosis...
December 16, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27931021/a-retrospective-analysis-of-neonatal-encephalocele-predisposing-factors-and-outcomes
#14
Seyho Cem Yucetas, Necati Uçler
OBJECTIVE: This study evaluates the predisposing factors and outcomes of surgical management of encephaloceles at our institution. MATERIALS AND METHODS: A retrospective analysis of 32 occipital encephaloceles managed operatively at the Neurosurgery Department Clinics of the Faculty of Medicine, Adıyaman University, was performed between 2011 and 2015. RESULTS: Among the study population, 19 mothers had been exposed to TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus), 18 were in consanguineous marriages, and 3 had regular prenatal screening...
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27895540/midline-craniofacial-masses-in-children
#15
REVIEW
Renae D Van Wyhe, Edward S Chamata, Larry H Hollier
Nasal dermoids, encephaloceles, and gliomas are rare congenital lesions that result from improper embryologic development. The differentiation between them and a firm understanding of their pathology is necessary to avoid unnecessary complications. In view of their potential intracranial connection, prompt diagnosis and treatment are paramount. The authors review the embryology, diagnoses, radiologic work-up, surgical management, and complications of these midline craniofacial masses in children.
November 2016: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/27891777/maternal-autoimmune-disease-and-birth-defects-in-the-national-birth-defects-prevention-study
#16
Meredith M Howley, Marilyn L Browne, Alissa R Van Zutphen, Sandra D Richardson, Sarah J Blossom, Cheryl S Broussard, Suzan L Carmichael, Charlotte M Druschel
BACKGROUND: Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. METHODS: Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27881182/research-prevalence-of-neural-tube-defects-khartoum-sudan-august-2014-july-2015
#17
Ilham M Omer, Osman M Abdullah, Inaam N Mohammed, Lina A Abbasher
BACKGROUND: Neural tube defects (NTDs) are birth defects that results from failure of the neural tube to develop properly during early pregnancy. METHODS: We studied the prevalence of neural tube defects in newborns admitted to the NICU in Soba University and Omdurman Maternity hospitals, during the period 1st August 2014 to 31st July 2015. A cross-sectional hospital based study, involved all newborns with any type of neural tube defect admitted to the NICU in the study area during the study period...
November 24, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/27875031/prevalence-of-neural-tube-defects-in-a-rural-area-of-north-india-from-2001-to-2014-a-population-based-survey
#18
Shashi Kant, Sumit Malhotra, Arvind Kumar Singh, Partha Haldar, Ravneet Kaur, Puneet Misra, Neerja Gupta
BACKGROUND: Neural tube defects (NTDs) are one of the commonest birth defects. There was paucity of community-based data on occurrence of NTDs in India, especially from rural parts of the country. Against this background, the current study was carried out with main objectives to determine the prevalence of NTDs and its specific types (anencephaly, spina bifida and encephalocele) in a rural community setting over the time period 2001 to 2014. METHODS: This was a community-based cross-sectional study carried out in 28 villages of Ballabgarh Tehsil of Faridabad district in north India (population ∼ 96,000)...
November 22, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27867118/giant-parietal-encephalocele-with-massive-brain-herniation-and-suboccipital-encephalocele-in-a-neonate-an-unusual-form-of-double-encephalocele
#19
Guner Menekse, Haydar Celik, Mehmet Akif Bayar
Double encephalocele is extremely rare. We present an unusual form of double encephalocele including giant supratentorial and small infratentorial encephalocele in a neonate.
February 2017: World Neurosurgery
https://www.readbyqxmd.com/read/27865944/misoprostol-exposure-during-the-first-trimester-of-pregnancy-is-the-malformation-risk-varying-depending-on-the-indication
#20
Marine Auffret, Nathalie Bernard-Phalippon, Joëlle Dekemp, Patrick Carlier, Marie Gervoise Boyer, Thierry Vial, Sophie Gautier
OBJECTIVE: To report the prospective follow-up of pregnancies exposed to misoprostol during the first trimester and analyse the teratogenic risk depending on the indication for use. STUDY DESIGN: Prospective observational study of 265 women exposed to misoprostol during the first 12 weeks of pregnancy and followed until the delivery. Women were included if they or their physician had contacted a French pharmacovigilance centre before 22 weeks of gestation (WG) to obtain information on the risk of misoprostol exposure, and if there had been misoprostol exposure before 13 WG...
December 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
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