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Encephalocele

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https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#1
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29314773/55-year-old-patient-with-intranasal-mass
#2
David W Kennedy, Robert Brody
The patient is a 55 year old female who presented with a right sided intranasal mass in 2014. Surgery was recommended, but the patient cancelled the surgery. She returned three years later with a significant progression of the lesion. What is this lesion and how would you manage it? Five months after resection of the lesion, the patient returns with pulsatile clear mucus visible on nasal endoscopy in the region of the prior mass excision. What does this represent and how should we proceed at this point? Is the patient developing a meningo-encephalocele?...
January 2018: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/29313370/bilateral-ossicular-head-dehiscence-into-the-middle-cranial-fossa
#3
Sameer A Alvi, Joel W Jones, Jim Lin
OBJECTIVES: To describe a unique case of bilateral dehiscence of the malleus and incus heads into the middle fossa making contact with the temporal lobes, along with its clinical implications. METHODS: An analysis of a patient case and review of pertinent literature were performed. RESULTS: A patient with a history of right-sided mastoidectomy for cholesteatoma was evaluated for persistent conductive hearing loss. On computed tomography (CT) and magnetic resonance imaging (MRI), the patient had a complete dehiscence of the tegmen tympani on the right, with ossicular heads being located above the floor of the middle cranial fossa...
January 1, 2018: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/29305685/frontoethmoidal-encephalocele-clinical-presentation-diagnosis-treatment-and-complications-in-400-cases
#4
Muhammad Arifin, Wihasto Suryaningtyas, Abdul Hafid Bajamal
PURPOSE: The purpose of this study is to review a large series of frontoethmoidal encephalocele (FEE) regarding their clinical presentation, the progressiveness of the mass volume, the skin stigmata as well as its surgical approach and post-surgical complications. METHOD: Records of all FEE patients treated in Soetomo General Hospital, Surabaya, and Charity Foundation Program from 2008 to 2015 were reviewed. Detailed patient's demography, clinical findings, radiology results, operative procedures, and complications were documented...
January 5, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#5
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29276880/isolated-thoracoschisis-case-report
#6
Burak Ardıçlı, Ayşe Karaman, Ahmet Özyazıcı, Ayşegül Zenciroğlu, Nurullah Okumuş
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare congenital anomaly that refers to a congenital fissure of the chest wall. It is frequently accompanied with other congenital defects of the limbs and the abdominal wall as part of the limb-body wall complex, which is exencephaly/encephalocele and facial clefts, thoracoschisis and/or abdominoschisis and limb defects. Isolated thoracoschisis is a rare entity...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29250724/cognitive-improvement-following-repair-of-a-basal-encephalocele
#7
Isabel Tulloch, Siobhan Palmer, Richard Scott, Dora Lozsadi, Andrew J Martin
We report the case of a 55-year-old woman presenting with progressive memory impairment secondary to a transsphenoidal encephalocele involving her dominant medial temporal lobe. Her clinical deterioration was accompanied by radiological progression in the encephalocele's size and associated encephalomalacia. Through a temporal craniotomy, her encephalocele was resected and the defect closed. Baseline neuropsychological assessment indicated global cognitive impairment, but post-operatively, she reported improved memory and concentration...
December 17, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29235085/recurrence-of-atretic-parietal-cephalocele-in-adult-report-a-case-and-review-of-literature
#8
Özgür Ertuğrul, Esra Çiçekçi, Mehmet Cudi Tuncer, Mehmet Ufuk Aluçlu
Common presentation of atretic parietal cephalocele (APC) is mostly seen in infants and young children. And, it is a palpable midline parietal soft tissue mass which is thought to represent involuted true cephalocele (meningocele or encephalocele)connected to dura mater via a fibrous stalk. The incidence of intracranial anomalies have increased with APC. Parietal cephaloceles comprise about 1% of all cerebrospinal congenital malformations and 10% of cephaloceles. We report here the case of an atretic parietal cephalocele with no associated brain malformations in adult...
December 13, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/29213169/clinical-profile-of-neural-tube-defects-in-sudanese-children-is-malaria-a-risk-factor
#9
Basma Sadik, Haydar E Babikir, Mohammed A R Arbab
Neural tube defects (NTDs) are one of the most common structural malformations in human kind. It is a public health problem with great impact on the child, parents and the community at large. The aim is to study the epidemiological profile and patterns of NTDs in under five-year of age Sudanese children who attended the neurosurgical clinic at the National Centre of Neurological Sciences (NCNS), Khartoum during the period from March 2014 to December 2014. This was a prospective cross-sectional study conducted at the neurosurgery clinic in NCNS, Khartoum...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29209151/endoscopic-repair-of-lateral-sphenoid-encephaloceles-a-case-series
#10
Mitchell R Gore
Background: Lateral sphenoid encephaloceles present a surgical challenge. These encephaloceles may be difficult to access given their lateral location and proximity to the neural and vascular structures of the sphenoid floor, pterygopalatine fossa, and lateral and superior sphenoid walls. Additionally, many patients have idiopathic intracranial hypertension, increasing the risk of recurrence. When untreated or undiscovered, these encephaloceles increase the risk of meningitis. Methods: All consecutive endoscopic repairs of lateral sphenoid encephaloceles by a single surgeon from 2012 to 2017 were analyzed for method of repair, complications, and recurrence rate...
2017: BMC Ear, Nose, and Throat Disorders
https://www.readbyqxmd.com/read/29204205/a-giant-occipital-encephalocele-in-neonate-with-spontaneous-hemorrhage-into-the-encephalocele-sac-surgical-management
#11
Guru Dutta Satyarthee, Luis Rafael Moscote-Salazar, Nidia Escobar-Hernandez, Jose Aquino-Matus, Paulo Cesar Puac-Polanco, Samer S Hoz, Willem Guillermo Calderon-Miranda
The presence of giant occipital encephalocele represents a surgical challenge. However, preoperative magnetic resonance imaging with venography can help in delineating relation of venous sinus, content of the sac and help classify occipital encephalocele into infra-torcular and torcular depending on the relation with position of torcula. However, the presence of old hemorrhage into encephalocele sac is extremely rare and in the detailed PubMed search, the authors could find one such case, reported by Nath et al...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29201465/a-reliable-and-reproducible-model-for-assessing-the-effect-of-different-concentrations-of-%C3%AE-solanine-on-rat-bone-marrow-mesenchymal-stem-cells
#12
Adriana Ordóñez-Vásquez, Lorenza Jaramillo-Gómez, Camilo Duran-Correa, Erandi Escamilla-García, Myriam Angélica De la Garza-Ramos, Fernando Suárez-Obando
Αlpha-solanine (α-solanine) is a glycoalkaloid present in potato (Solanum tuberosum). It has been of particular interest because of its toxicity and potential teratogenic effects that include abnormalities of the central nervous system, such as exencephaly, encephalocele, and anophthalmia. Various types of cell culture have been used as experimental models to determine the effect of α-solanine on cell physiology. The morphological changes in the mesenchymal stem cell upon exposure to α-solanine have not been established...
2017: Bone Marrow Research
https://www.readbyqxmd.com/read/29194211/publishing-trends-in-otology-and-neurotology
#13
Ryan Boerner, Jonathan L Hatch, Elizabeth Harruff, Shaun A Nguyen, Habib G Rizk, Ted A Meyer, Paul R Lambert, Theodore R McRackan
OBJECTIVES: 1) Describe publishing trends for otologic/neurotologic disorders over a 35-year span. 2) Compare trends in publishing with disease prevalence. 3) Evaluate changes in topic and journal specific ranking scores over time. METHODS: PubMed searches were performed on 35 otologic/neurotologic disorders using medical subject headings (MeSH) terms from 1980 to 2015. Searches were limited in scope to the English language. A Mann-Kendall trend analysis evaluated changes in publication frequency as a discrete variable while correcting for total number of articles published per year...
January 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29170734/the-prevalence-and-distribution-of-spina-bifida-in-a-single-major-referral-center-in-malaysia
#14
Adibah Sahmat, Renuka Gunasekaran, Siti W Mohd-Zin, Lohis Balachandran, Meow-Keong Thong, Julia P Engkasan, Dharmendra Ganesan, Zaliha Omar, Abu Bakar Azizi, Azlina Ahmad-Annuar, Noraishah M Abdul-Aziz
Background: The aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients' ambulation and education level (where available). Methods: Data from the Department of Patient Information University of Malaya Medical Centre (UMMC), Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida)...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29162413/-frontoethmoidal-encephalocele-detected-after-meningitis-caused-by-two-microorganisms
#15
Alicia Llombart Vidal, Raquel Revert Gil, Inmaculada Bonilla Díaz, Pedro Jesús Alcalá Minagorre
No abstract text is available yet for this article.
November 18, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29138704/caudal-regression-and-encephalocele-rare-manifestations-of-expanded-goldenhar-complex
#16
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
#17
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
#18
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
#19
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
#20
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
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