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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
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
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
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
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.
September 27, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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...
September 14, 2016: Otology & Neurotology
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
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
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
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
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
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: Sudan J Paediatr
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: Sudan J Paediatr
Hibba A Bedri, Babiker M Mustafa, Yosif M Jadallah
Walker-Warburg syndrome (WWS) is a rare and lethal autosomal recessive disorder, caused by defective glycosylation of α-dystroglycan that is important for muscle integrity and neuronal migration. Mutations in six genes involved in the glycosylation of α-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, and others remain under study. Prenatal diagnosis may be possible by means of prenatal ultrasonography, or magnetic resonance imaging. We report a patient demonstrating the typical clinical features of lissencephaly, congenital muscular dystrophy and ocular abnormalities, in addition to other features including hydrocephalus, occipital encephalocele, agenesis of the corpus collosum, microphthalmia, ventricular septal defect, and rocker bottom feet deformity...
2011: Sudan J Paediatr
Nyall R London, Douglas D Reh
Nasal polyps are semi-translucent mucosal outgrowths of the paranasal sinuses which typically arise in the setting of chronic rhinosinusitis (CRS). Nasal polyps are also associated with asthma, aspirin sensitivity, cystic fibrosis and allergic fungal rhinosinusitis (AFS). The majority of nasal polyps are bilateral and characterized by tissue edema and eosinophil infiltration. Patients with nasal polyps often present with complaints including nasal obstruction, congestion, rhinorrhea or altered sense of smell...
2016: Advances in Oto-rhino-laryngology
Raewynn G Campbell, Douglas Farquhar, Nina Zhao, Alexander G Chiu, Nithin D Adappa, James N Palmer
BACKGROUND: Endoscopic endonasal repair of cerebrospinal fluid (CSF) rhinorrhea secondary to idiopathic intracranial hypertension (IIH), also known as pseudotumor cerebri or benign intracranial hypertension, has varying success rates, from 25-87%, with minimal morbidity. However, often these series have a relatively short-term follow-up. Given the pathophysiology of IIH, long-term follow-up is necessary to identify true CSF leak recurrence rates. Our investigation aimed to evaluate long-term outcomes in endoscopically repaired CSF leaks...
July 2016: American Journal of Rhinology & Allergy
Elisa A Illing, Bradford A Woodworth
Encephaloceles and cerebrospinal fluid (CSF) leaks of the frontal sinus may result from congenital, traumatic, spontaneous, or neoplastic causes. Paramount to success is adequate preoperative planning with accurate history, physical exam, endoscopy, imaging, and testing to confirm location of the leak and origin of the disease. Generally, frontal sinus CSF leaks may be addressed endoscopically with favorable anatomy, proper surgical technique, and appropriate equipment. Open surgical approaches (eg, osteoplastic flap) are often required for superior/lateral defects or if the surgeon is not experienced with endoscopic frontal sinus techniques...
August 2016: Otolaryngologic Clinics of North America
Dino Maglic, Joshi Stephen, May Christine V Malicdan, Jennifer Guo, Roxanne Fischer, Daniel Konzman, James C Mullikin, William A Gahl, Thierry Vilboux, Meral Gunay-Aygun
Joubert and Meckel-Gruber syndromes (JS and MGS) are ciliopathies with overlapping features. JS patients manifest the "molar tooth sign" on brain imaging and variable eye, kidney, and liver disease. MGS presents with polycystic kidneys, occipital encephalocele, and polydactyly; it is typically perinatally fatal. Both syndromes are genetically heterogeneous; some genes cause either syndrome. Here, we report two brothers married to unrelated women. The first brother had three daughters with JS and a son with polycystic kidneys who died at birth...
November 2016: Human Mutation
Bipin Walia, Pradeep Bhargava, Kavita Sandhu
No abstract text is available yet for this article.
July 2005: Medical Journal, Armed Forces India
S G Gupta, H Singh
14 cases of neural tube defect (NTD) were detected on screening of 1950 pregnant women over a period of 30 months by antenatal ultrasonography (USG) examination, suggesting an incidence of 7.1 per thousand conceptions. The distribution of types of NTD were occult dysraphism 14%, meningocele 14%, myelocele 7%, myelomeningocele 14%, encephalocele 14% and anencephaly 37%. The study established high accuracy of USG screening for antenatal diagnosis of NTD with sensitivity of 85.71% and specificity of 100.
April 2001: Medical Journal, Armed Forces India
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