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Encephalocele

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https://www.readbyqxmd.com/read/29138704/caudal-regression-and-encephalocele-rare-manifestations-of-expanded-goldenhar-complex
#1
Gabriella D'Angelo, Lucia Marseglia, Salvatore Aversa, Sara Manti, Caterina Cuppari, Mariaconcetta Cutrupi, Carmelo Salpietro, Eloisa Gitto
Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#2
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29122895/migration-of-ventriculoperitoneal-shunt-to-urethral-and-rectal-orifices
#3
Banan Osman, Stella Roushias, Rachel Hargest, Krishna Narahari
Ventriculoperitoneal (VP) shunt surgery remains the most widely used neurosurgical procedure for the management of hydrocephalus. However, shunt complications are common and may require multiple surgical procedures during a patient's lifetime. We report the case of a 29-year-old patient with a background of Dandy-Walker malformation, occipital encephalocele, recurrent hydrocephalus, spina bifida and epilepsy presented with VP shunt migration into urinary and gastrointestinal tracts. In absence of sepsis or peritonism from either bowel or bladder perforation, local control of stent extrusion was successful for several years, although surgery was eventually undertaken...
November 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29102755/matriderm%C3%A2-for-the-management-of-scalp-necrosis-following-surgical-treatment-of-a-giant-parietal-encephalocele-case-report
#4
M D Vilela, Has Pedrosa, Fd Sampaio, L J Carneiro
BACKGROUND: management of encephaloceles is challenging when massive brain herniation is present. In such instances, an expansile cranioplasty may be attempted so as to preserve some herniated brain tissue. Complications such as wound dehiscence, CSF leak and scalp necrosis are postoperative concerns. The treatment of scalp necrosis with dural and brain exposure is certainly a challenge, due to the complexity of flap techniques in such a young age. Herein we describe the use of a novel technique for the management of a scalp necrosis and dehiscence in an infant...
November 1, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29094488/maternal-report-of-fever-from-cold-or-flu-during-early-pregnancy-and-the-risk-for-noncardiac-birth-defects-national-birth-defects-prevention-study-1997-2011
#5
Dorothy Kim Waller, Syed Shahrukh Hashmi, Adrienne T Hoyt, Hao T Duong, Sarah C Tinker, Michael Shayne Gallaway, Richard S Olney, Richard H Finnell, Jacqueline Tauber Hecht, Mark A Canfield
BACKGROUND: As maternal fever affects approximately 6-8% of early pregnancies, it is important to expand upon previous observations of an association between maternal fever and birth defects. METHODS: We analyzed data from the National Birth Defects Prevention Study, a multistate, case-control study of major structural birth defects. Telephone interviews were completed by mothers of cases (n = 17,162) and controls (n = 10,127). Using multivariable logistic regression, we assessed the association between maternal self-report of cold or flu with fever and cold or flu without fever during early pregnancy and 30 categories of non-cardiac birth defects...
November 2, 2017: Birth defects research
https://www.readbyqxmd.com/read/29093352/prevalence-and-risk-of-birth-defects-observed-in-a-prospective-cohort-study-the-hokkaido-study-on-environment-and-children-s-health
#6
Tomoyuki Hanaoka, Naomi Tamura, Kumiko Ito, Seiko Sasaki, Atsuko Araki, Tamiko Ikeno, Chihiro Miyashita, Sachiko Ito, Hisanori Minakami, Kazutoshi Cho, Toshiaki Endo, Tsuyoshi Baba, Toshinobu Miyamoto, Kazuo Sengoku, Reiko Kishi
BACKGROUND: Prevalence rates of all anomalies classified as birth defects, including those identified before the 22nd gestational week, are limited in published reports, including those from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). In our birth cohort study, we collected the data for all birth defects after 12 weeks of gestation. METHODS: Subjects in this study comprised 19,244 pregnant women who visited one of 37 associated hospitals in the Hokkaido Prefecture from 2003 through 2012, and completed follow-up...
October 28, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/29084008/delayed-complications-from-expanded-endonasal-surgery-for-intracranial-tumors
#7
Mathew N Geltzeiler, Eric W Wang
PURPOSE OF REVIEW: Delayed complications after endoscopic endonasal approaches to the skull base, defined as complications greater than 1 month postoperatively, are uncommon. These complications are divided into categories including sinonasal, neuroanatomic, endocrine and vascular. This review highlights the most up-to-date advancements and reviews the management of delayed complications for skull base patients. RECENT FINDINGS: Over the last 10 years, the field of endoscopic endonasal skull base surgery has expanded with new data highlighting the long-term patient outcomes...
October 27, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/29067504/multimaterial-3d-printing-preoperative-planning-for-frontoethmoidal-meningoencephalocele-surgery
#8
Giselle Coelho, Thailane Marie Feitosa Chaves, Ademil Franco Goes, Emilio C Del Massa, Osmar Moraes, Maurício Yoshida
INTRODUCTION: Surgical correction of frontoethmoidal meningoencephalocele, although rare, is still challenging to neurosurgeons and plastic reconstructive surgeons. It is fundamental to establish reliable and safe surgical techniques. The twenty-first century has brought great advances in medical technology, and the 3D models can mimic the correct tridimensional anatomical relation of a tissue organ or body part. They allow both tactile and spatial understanding of the lesion and organ involved...
October 24, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29039074/the-usefulness-of-stereo-electroencephalography-seeg-in-the-surgical-management-of-focal-epilepsy-associated-with-hidden-temporal-pole-encephalocele-a-case-report-and-literature-review
#9
João Paulo Sant Ana Santos de Souza, Jeff Mullin, Connor Wathen, Juan Bulacio, Patrick Chauvel, Lara Jehi, Jorge Gonzalez-Martinez
The authors report a case of 18-year-old woman with partial complex seizures compatible with temporal epilepsy by semiology. Due to medical refractoriness, she was referred to pre-surgical evaluation. Initially, MRI showed no significant structural abnormality and superficial scalp EEG demonstrated epileptiform activity in the frontotemporal areas. Due to the lack of clear MRI abnormalities and the potential involvement of dominant mesial temporal structures by seizure semiology and non-invasive data, extra-operative invasive evaluation using stereo-electroencephalography (SEEG) methodology was indicated...
October 16, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/29038955/frontoethmoidal-encephalocele-a-pediatric-airway-challenge
#10
Lakshmi M Geddam, Mohamed A Mahmoud, Brian S Pan, Charles B Stevenson, Ali I Kandil
No abstract text is available yet for this article.
October 16, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28991716/utility-of-ciss-sequence-in-detecting-anteroinferior-temporal-encephalocele
#11
Z I Wang, A McBride, O Grinenko, I Blümcke, M Overmyer, W Bingaman, A V Alexopoulos, I M Najm, S E Jones
No abstract text is available yet for this article.
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28966466/congenital-midline-nasal-anomalies
#12
Niraj Vora, Ram Kalagiri, Bryan Guillory, Ashita Shetty, Venkata Nakta Raju, R K Powitzky, Madhava R Beeram
Congenital midline nasal anomalies are rare, with a prevalence of 1 in 20,000 to 40,000 births and with 5% to 7% of them being nasal glioma. Differential diagnoses of nasal anomalies include nasal dermoid cysts, gliomas, encephaloceles, nasal polyps, and some other rare anomalies. Due to current medical technological advancements, most of these anomalies are easily correctable, though delaying management may lead to fatal effects. This report describes two cases-one of nasal glioma and one of nevus lipomatosus cutaneous superficialis-that presented as respiratory distress in a newborn...
October 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28938928/growth-hormone-deficiency-basal-encephalocele-and-morning-glory-anomaly
#13
Rajesh C Rao, Scott A Larson, Brian J Dlouhy
No abstract text is available yet for this article.
October 2017: Ophthalmology
https://www.readbyqxmd.com/read/28938333/pediatric-glial-heterotopia-in-the-medial-canthus
#14
Soung Min Kim, Emmanuel Kofi Amponsah, Mi Young Eo, Yun Ju Cho, Suk Keun Lee
Glial heterotopias are rare, benign, congenital, midline, and nonteratomatous extracranial glial tissue. They may be confused as encephalocele or dermoid cysts and are mostly present in the nose.An 8-month-old African female child presented with a slow growing paranasal mass. The mass had been present at the left upper medial canthus since birth and had slowly and progressively enlarged. There was no communication between the mass and the cranial cavity during the operational procedure. The mass was immunohistochemically positive for S-100 protein as well as for glial fibrillary acidic protein, but negative for proliferating cell nuclear antigen...
November 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28885087/encephalocele-development-from-a-congenital-meningocele-case-report
#15
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...
November 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
#16
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
#17
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
#18
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
#19
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
#20
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
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