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Craniosynostosis

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https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#1
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27906843/comparison-of-resorbable-plating-systems-complications-during-degradation
#2
Dennis C Nguyen, Albert S Woo, Scott J Farber, Gary B Skolnick, Jenny Yu, Sybill D Naidoo, Kamlesh B Patel
INTRODUCTION: Several bioresorbable plating systems have become standard in pediatric craniosynostosis reconstruction. A comparison of these systems is needed to aid surgeons in the preoperative planning process. The authors aim to evaluate 1 institution's experience using Resorb-X by KLS Martin and Delta Resorbable Fixation System by Stryker (Stryker Craniomaxillofacial, Kalamazoo, MI). METHODS: A sample of patients with single-suture nonsyndromic craniosynostosis treated at St Louis Children's Hospital between 2007 and 2014 using either Resorb-X or Delta bioresorbable plating systems were reviewed...
November 30, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#3
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27891566/sudden-death-associated-with-syndromic-craniosynostosis
#4
Alžbeta Ginelliová, Daniel Farkaš, Silvia Farkašová Iannaccone, Vlasta Vyhnálková, Peter Vasovčák
In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis...
November 28, 2016: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/27884935/diagnostic-value-of-exome-and-whole-genome-sequencing-in-craniosynostosis
#5
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline A C Goos, Sigrid M A Swagemakers, Irene M J Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A Hurst, Jenny E V Morton, Elizabeth Sweeney, Astrid Weber, Louise C Wilson, Andrew O M Wilkie
BACKGROUND: Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing. METHODS: We used exome or whole genome sequencing to seek a genetic cause in a cohort of 40 subjects with craniosynostosis, selected by clinical or molecular geneticists as being high-priority cases, and in whom prior clinically driven genetic testing had been negative...
November 24, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27883932/biological-response-of-human-suture-mesenchymal-cells-to-titania-nanotube-based-implants-for-advanced-craniosynostosis-therapy
#6
Manpreet Bariana, Prem Dwivedi, Sarbin Ranjitkar, John A Kaidonis, Dusan Losic, Peter J Anderson
Titania nanotubes (TNTs) engineered on titanium (Ti) surfaces (i.e. TNT/Ti) and loaded with specific drugs have been recognised as a promising solution for localised therapeutic delivery to address several medical problems not feasible with conventional drug administration. We propose the use of TNT/Ti protein-releasing implants to treat paediatric craniofacial abnormality in craniosynostosis caused by premature fusion of cranial sutures. In this study, we have analysed the biological response of human suture mesenchymal cells (SMCs), extracted from two different patients undergoing craniofacial reconstruction surgery, at the TNT/Ti implant surface...
November 17, 2016: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/27879597/discussion-sleep-architecture-linked-to-airway-obstruction-and-intracranial-hypertension-in-children-with-syndromic-craniosynostosis
#7
Jeffrey A Fearon
No abstract text is available yet for this article.
December 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27879596/sleep-architecture-linked-to-airway-obstruction-and-intracranial-hypertension-in-children-with-syndromic-craniosynostosis
#8
Bart Spruijt, Irene M J Mathijssen, Hansje H Bredero-Boelhouwer, Perumpillichira J Cherian, Linda J A Corel, Marie-Lise van Veelen, Richard D Hayward, Robert C Tasker, Koen F M Joosten
BACKGROUND: Children with syndromic craniosynostosis often have obstructive sleep apnea and intracranial hypertension. The authors aimed to evaluate (1) sleep architecture, and determine whether this is influenced by the presence of obstructive sleep apnea and/or intracranial hypertension; and (2) the effect of treatment on sleep architecture. METHODS: This study included patients with syndromic craniosynostosis treated at a national referral center, undergoing screening for obstructive sleep apnea and intracranial hypertension...
December 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27853988/antenatal-manifestations-of-inborn-errors-of-metabolism-prenatal-imaging-findings
#9
Laurent Guibaud, Sophie Collardeau-Frachon, Audrey Lacalm, Mona Massoud, Massimiliano Rossi, Marie Pierre Cordier, Christine Vianey-Saban
Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions-especially in cases of consanguinity and/or recurrence of symptoms-after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27851183/1547-effect-of-tranexamic-acid-on-perioperative-transfusion-practices-in-craniosynostosis-repair
#10
Elisabeth Goldstein, Jeffrey Wisoff, Andy Wen
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27831975/long-term-outcomes-of-pediatric-cranial-reconstruction-using-resorbable-plating-systems-for-the-treatment-of-craniosynostosis
#11
Leslie G Branch, Clayton Crantford, Teresa Cunningham, Gaurav Bharti, James Thompson, Dan Couture, Lisa R David
BACKGROUND: Resorbable plating in cranial reconstruction for craniosynostosis has fewer reported complications than rigid hardware. Few long-term outcome studies exist for pediatric patients treated with this technology for cranial vault reconstruction. METHODS: A retrospective review was performed on pediatric patients undergoing cranial vault reconstruction for craniosynostosis by 3 surgeons over a 15-year period. MacroPore (Cytori Therapeutics, San Diego, CA) or Lactosorb (Walter Lorenz Surgical Inc, Jacksonville, FL), composed of polyglycolic and polylactic acids, was used for resorbable plate fixation...
November 9, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27830211/clues-from-crouzon-insights-into-the-potential-role-of-growth-factors-in-the-pathogenesis-of-myelinated-retinal-nerve-fibers
#12
Giancarlo A Garcia, Jack J Tian, Supanut Apinyawasisuk, Sarah Kim, Handan Akil, Alfredo A Sadun
PURPOSE: We present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2. As a secondary aim, we examine the utility of optical coherence tomography (OCT) angiography for visualization of peripapillary vasculature obscured by myelination on other imaging modalities. METHODS: A 24-year-old woman with Crouzon syndrome was evaluated for suspected optic neuritis in the right eye...
December 2016: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/27829009/the-morphogenesis-of-cranial-sutures-in-zebrafish
#13
Jolanta M Topczewska, Ramy A Shoela, Joanna P Tomaszewski, Rupa B Mirmira, Arun K Gosain
Using morphological, histological, and TEM analyses of the cranium, we provide a detailed description of bone and suture growth in zebrafish. Based on expression patterns and localization, we identified osteoblasts at different degrees of maturation. Our data confirm that, unlike in humans, zebrafish cranial sutures maintain lifelong patency to sustain skull growth. The cranial vault develops in a coordinated manner resulting in a structure that protects the brain. The zebrafish cranial roof parallels that of higher vertebrates and contains five major bones: one pair of frontal bones, one pair of parietal bones, and the supraoccipital bone...
2016: PloS One
https://www.readbyqxmd.com/read/27819403/-treatment-of-syringomyelia-in-patients-with-chiari-malformation-and-craniosynostosis-a-case-report-and-review-of-the-literature
#14
A Aransay-Garcia, F J Villarejo-Ortega
INTRODUCTION: Patients with multisutural or single craniosynostosis, often suffer from Chiari malformation and syringomyelia. The surgical management of syringomyelia in these patients is controversial. CASE REPORT: A 3-year-old girl was referred with complex craniosynostosis that had not been corrected surgically. She was asymptomatic despite the cranial MRI showed a Chiari malformation and one year later she developed a cervico-dorso-lumbar syringomyelia. She underwent a decompressive suboccipital craniectomy but subsequently suffered a worsening of syringomyelia...
November 16, 2016: Revista de Neurologia
https://www.readbyqxmd.com/read/27803855/fgfr2-mutation-in-a-chinese-family-with-unusual-crouzon-syndrome
#15
Zi-Li Li, Xue Chen, Wen-Juan Zhuang, Wei Zhao, Ya-Ni Liu, Fang-Xia Zhang, Ruo-Shui Ha, Jin-Hua Wu, Chen Zhao, Xun-Lun Sheng
AIM: To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome. METHODS: All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the FGFR2 gene was employed for mutation identification. Crystal structure analysis was applied to analyze the structural changes associated with the substitution. RESULTS: All patients presented typical Crouzon features, including short stature, craniosynostosis, mandibular prognathism, shallow orbits with proptosis, and exotropia...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27799912/understanding-mechanisms-of-gli-mediated-transcription-during-craniofacial-development-and-disease-using-the-ciliopathic-mutant-talpid-2
#16
Ya-Ting Chang, Praneet Chaturvedi, Elizabeth N Schock, Samantha A Brugmann
The primary cilium is a ubiquitous, microtubule-based organelle that cells utilize to transduce molecular signals. Ciliopathies are a group of diseases that are caused by a disruption in the structure or function of the primary cilium. Over 30% of all ciliopathies are primarily defined by their craniofacial phenotypes, which typically include midfacial defects, cleft lip/palate, micrognathia, aglossia, and craniosynostosis. The frequency and severity of craniofacial phenotypes in ciliopathies emphasizes the importance of the cilium during development of the craniofacial complex...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27793496/congenital-nasal-cavity-stenosis-in-children-with-craniosyntosis-a-report-of-4-rare-cases
#17
Yew Toong Liew, Siew Shuin Soo, Anna Marie Nathan, Anura Michelle Manuel
Congenital bony nasal stenosis (CBNS) is a very rare but life-threatening cause of airway obstruction in neonates and infants. This review aims to assess the presentation and early airway management of 4 new cases of craniosynostosis with bilateral nasal cavity stenosis. Patients were treated with endoscopic endonasal widening of the nasal cavity and stenting. All patients were extubated well post-operatively with resolution of symptoms. They remained asymptomatic with stents in situ for at least 6 months with no complications reported...
October 25, 2016: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/27783001/discussion-impact-of-fronto-orbital-advancement-on-frontal-sinus-volume-morphology-and-disease-in-nonsyndromic-craniosynostosis
#18
Jeffrey A Fearon
No abstract text is available yet for this article.
November 2016: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27776086/congress-of-neurological-surgeons-systematic-review-and-evidence-based-guideline-for-the-diagnosis-of-patients-with-positional-plagiocephaly-the-role-of-imaging
#19
Catherine Mazzola, Lissa C Baird, David F Bauer, Alexandra Beier, Susan Durham, Paul Klimo, Alexander Y Lin, Catherine McClung-Smith, Laura Mitchell, Dimitrios Nikas, Mandeep S Tamber, Rachana Tyagi, Ann Marie Flannery
BACKGROUND: No evidence-based guidelines exist for the imaging of patients with positional plagiocephaly. OBJECTIVE: The objective of this systematic review and evidence-based guideline is to answer the question, Is imaging necessary for infants with positional plagiocephaly to make a diagnosis? METHODS: The National Library of Medicine Medline database and the Cochrane Library were queried with the use of MeSH headings and key words relevant to imaging as a means to diagnose plagiocephaly...
November 2016: Neurosurgery
https://www.readbyqxmd.com/read/27774767/bicoronal-and-metopic-craniosynostosis-in-association-with-a-de-novo-unbalanced-t-2-7-chromosomal-translocation
#20
James J O'Byrne, Helen Ryan, Dylan J Murray, Regina Regan, David R Betts, Nuala Murphy, Jillian P Casey, Sally A Lynch
We report the case of a developmentally appropriate infant male with a de novo unbalanced chromosome translocation involving bands 2q32.1 and 7p21.3. The child was noted to have metopic and bicoronal craniosynostosis with closely spaced eyes, turricephaly, and flattening of the forehead. © 2016 Wiley Periodicals, Inc.
October 24, 2016: American Journal of Medical Genetics. Part A
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