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Encephalocele

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https://www.readbyqxmd.com/read/27895540/midline-craniofacial-masses-in-children
#1
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
#2
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
#3
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
#4
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
#5
Guner Menekse, Haydar Celik, Mehmet Akif Bayar
No abstract text is available yet for this article.
November 17, 2016: 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
#6
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...
November 11, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27822763/surgical-resection-of-large-encephalocele-a-report-of-two-cases-and-consideration-of-resectability-based-on-developmental-morphology
#7
Hideo Ohba, Satoshi Yamaguchi, Takashi Sadatomo, Masaaki Takeda, Manish Kolakshyapati, Kaoru Kurisu
INTRODUCTION: The first-line treatment of encephalocele is reduction of herniated structures. Large irreducible encephalocele entails resection of the lesion. In such case, it is essential to ascertain preoperatively if the herniated structure encloses critical venous drainage. CASE REPORTS: Two cases of encephalocele presenting with large occipital mass underwent magnetic resonance (MR) imaging. In first case, the skin mass enclosed the broad space containing cerebrospinal fluid and a part of occipital lobe and cerebellum...
November 7, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27746220/collagen-xviii-in-tissue-homeostasis-and-dysregulation-lessons-learned-from-model-organisms-and-human-patients
#8
Ritva Heljasvaara, Mari Aikio, Heli Ruotsalainen, Taina Pihlajaniemi
Collagen XVIII is a ubiquitous basement membrane (BM) proteoglycan produced in three tissue-specific isoforms that differ in their N-terminal non-collagenous sequences, but share collagenous and C-terminal non-collagenous domains. The collagenous domain provides flexibility to the large collagen XVIII molecules on account of multiple interruptions in collagenous sequences. Each isoform has a complex multi-domain structure that endows it with an ability to perform various biological functions. The long isoform contains a frizzled-like (Fz) domain with Wnt-inhibiting activity and a unique domain of unknown function (DUF959), which is also present in the medium isoform...
October 13, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/27740959/surgical-strategies-for-soft-tissue-management-in-hypertelorbitism
#9
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Enrico Ghizoni, Cesar Augusto Raposo-Amaral
BACKGROUND: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. METHODS: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients...
October 6, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27729302/unusual-association-between-spontaneous-lateral-sphenoid-encephalocele-and-chiari-malformation-type-i-endoscopic-repair-through-a-transpterygoid-approach
#10
Daniele Starnoni, Roy Thomas Daniel, Mercy George, Mahmoud Messerer
BACKGROUND: Spontaneous meningoencephaloceles of the lateral sphenoid sinus are rare entities and their peculiar location represent a surgical challenge due to the importance of a wide exposure and skull base reconstruction. They are thought to arise from congenital base defect of the lateral sphenoid or in some cases have been postulated to represent a rare manifestation of altered CSF dynamics. We report the first case in literature of a Chiari malformation type I and a lateral sphenoid encephaloceles revising the theoretical etiology and surgical technique of endoscopic repair...
October 8, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27685943/maternal-antenatal-bereavement-and-neural-tube-defect-in-live-born-offspring-a-cohort-study
#11
Katja Glejsted Ingstrup, Chun Sen Wu, Jørn Olsen, Ellen Aagaard Nohr, Bodil Hammer Bech, Jiong Li
BACKGROUND: Maternal emotional stress during pregnancy has previously been associated with congenital neural malformations, but most studies are based on data collected retrospectively. The objective of our study was to investigate associations between antenatal maternal bereavement due to death of a close relative and neural tube defects (NTDs) in the offspring. METHODS: We performed a register-based cohort study including all live-born children (N = 1,734,190) from 1978-2008...
2016: PloS One
https://www.readbyqxmd.com/read/27679454/the-chiari-3-5-malformation-a-review-of-the-only-reported-case
#12
REVIEW
Christian Fisahn, Mohammadali M Shoja, Mehmet Turgut, Rod J Oskouian, W Jerry Oakes, R Shane Tubbs
INTRODUCTION: In 1894, Giuseppe Muscatello described what we believe to be the only case of an occipitocervical encephalocele with a communication to the stomach. This case and its history and context compared to the Chiari 3 malformation as described 3 years earlier by Hans Chiari are presented. CONCLUSIONS: Based on the uniqueness of this case, we propose the term Chiari 3.5 malformation be used to describe its anatomical derailment.
December 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27631830/middle-cranial-fossa-mcf-approach-without-the-use-of-lumbar-drain-for-the-management-of-spontaneous-cerebral-spinal-fluid-csf-leaks
#13
Rick F Nelson, Joseph P Roche, Bruce J Gantz, Marlan R Hansen
OBJECTIVE: To determine the efficacy and morbidity of repairing spontaneous cerebrospinal fluid (CSF) leaks with the middle cranial fossa (MCF) approach without the use of a lumbar drain (LD), as perioperative use of LD remains controversial. STUDY DESIGN: Retrospective review from 2003 to 2015. SETTING: University of Iowa Hospitals and Clinics and Indiana University Health Center. PATIENTS: Those with a confirmed lateral skull base spontaneous CSF leaks and/or encephaloceles...
December 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27617049/giant-atretic-occipital-lipoencephalocele-in-an-adult-with-bony-outgrowth
#14
Kshama Nimkar, Dinesh Sood, Pawan Soni, Narvir Chauhan, Mukesh Surya
BACKGROUND: We present unique case of a giant extracranial atretic occipital lipoencephalocele in an adult patient with new bone formation within it which was not associated with any developmental malformation of brain. Resection of the lipoencephalocele was performed for esthetic reasons. CASE REPORT: 18 year old female patient presented to the surgery OPD with complains of a large mass in the occipital region present since birth. It was of size of a betel nut at the time of birth and gradually increased in size over a long period of time...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27541682/geographic-clusters-of-congenital-anomalies-in-argentina
#15
Boris Groisman, Juan Gili, Lucas Giménez, Fernando Poletta, María Paz Bidondo, Pablo Barbero, Rosa Liascovich, Jorge López-Camelo
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence...
August 19, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27516843/long-term-results-of-orbital-roof-repair-with-titanium-mesh-in-a-case-of-traumatic-intraorbital-encephalocele-a-case-report-and-review-of-literature
#16
Erhan Arslan, Selçuk Arslan, Selçuk Kalkısım, Ahmet Arslan, Kayhan Kuzeyli
Orbital roof fractures associated with cranial and maxillofacial trauma are rarely encountered. Traumatic intraorbital encephaloceles due to orbital roof fractures developing in the early posttraumatic period are even rarer. A variety of materials, such as alloplastic implants or autogenous materials, have been used for the reconstruction of orbital roof, but data regarding the long-term results of these materials are very limited. We report a case of intraorbital encephalocele developing in the early posttraumatic period (2 days) in a child patient and the long-term results of titanium mesh used for the reconstruction of the orbital roof...
September 2016: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/27513987/giant-interfrontal-encephalocele-in-an-infant-a-rare-entity
#17
Mohd Faheem, Sunil Kumar Singh, Bal Krishna Ojha, Anil Chandra, Chhitij Srivastava, Manish Jaiswal, Qazi Zeeshan
Interfrontal encephalocele is one of the rare varieties of anterior encephalocele, and a giant interfrontal encephalocele is extremely rare. The authors could find only one case report of giant interfrontal encephalocele in the literature. Anterior encephaloceles are more prevalent in South-East Asia and some northern parts of India. Giant encephalocele poses a great challenge to neurosurgeons and neuroanesthetists during surgery, as these infants usually have a low birth weight and a large sac, thus making the infant prone to hypothermia and blood loss among other risks...
2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27499650/a-newborn-with-very-rare-von-voss-cherstvoy-syndrome-a-case-report
#18
Deepak Sharma, Basudev Gupta, Sweta Shastri, Pradeep Sharma
INTRODUCTION: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities. CASE PRESENTATION: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27493349/meckel-gruber-syndrome-antenatal-diagnosis-and-ethical-perspectives
#19
Sarar Mohamed, Fatima Ibrahim, Kameel Kamil, Satti A Satti
Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and variable other congenital malformations. We report on a Sudanese patient with MGS diagnosed by antenatal ultrasound scan. Pregnancy was terminated at 25 weeks of gestation.
2012: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/27493335/meckel-gruber-syndrome-a-rare-and-lethal-anomaly
#20
Abdelmoneim E M Kheir, Abdelmutalab Imam, Ilham M Omer, Ibtsama M A Hassan, Sara A Elamin, Esra A Awadalla, Mohammed H Gadalla, Tagwa A Hamdoon
Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth.
2012: Sudanese Journal of Paediatrics
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