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Craniosynostosis

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https://www.readbyqxmd.com/read/28922245/a-craniometric-analysis-of-cranial-base-and-cranial-vault-differences-in-patients-with-metopic-craniosynostosis
#1
Sanjay Naran, Daniel Mazzaferro, Ari Wes, Arastoo Vossough, Scott P Bartlett, Jesse A Taylor
PURPOSE: The effect of synostosis is not confined to the immediate vicinity of the suture. The authors hypothesized metopic craniosynostosis results in migration of lateral structures from midline, and differences in segmental volume of the cranial fossa. METHODS: A retrospective case-controlled cohort analysis of patients with nonsyndromic metopic craniosynostosis was performed. Craniometric angles, distances to landmarks from midline, cephalic index, and segmented volume ratios were calculated...
September 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28922233/endoscopic-versus-open-repair-for-craniosynostosis-in-infants-using-propensity-score-matching-to-compare-outcomes-a-multicenter-study-from-the-pediatric-craniofacial-collaborative-group
#2
Douglas R Thompson, David Zurakowski, Charles M Haberkern, Paul A Stricker, Petra M Meier
BACKGROUND: The North American Pediatric Craniofacial Collaborative Group (PCCG) established the Pediatric Craniofacial Surgery Perioperative Registry to evaluate outcomes in infants and children undergoing craniosynostosis repair. The goal of this multicenter study was to utilize this registry to assess differences in blood utilization, intensive care unit (ICU) utilization, duration of hospitalization, and perioperative complications between endoscopic-assisted (ESC) and open repair in infants with craniosynostosis...
September 14, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28921853/cover-image-volume-173a-number-10-october-2017
#3
Rani A Bashir, Abhijit Dixit, Caitlin Goedhart, Jillian S Parboosingh, Allan M Innes, Patrick Ferreira, Shabih U Hasan, Ping-Yee B Au
The cover image, by Rani A. Bashir et al., is based on the Original Article Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders, DOI: 10.1002/ajmg.a.38355.
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28921242/use-of-computer-assisted-design-and-manufacturing-to-localize-dural-venous-sinuses-during-reconstructive-surgery-for-craniosynostosis
#4
Rajiv R Iyer, Adela Wu, Alexandra Macmillan, Leila Musavi, Regina Cho, Joseph Lopez, George I Jallo, Amir H Dorafshar, Edward S Ahn
OBJECTIVE: Cranial vault remodeling surgery for craniosynostosis carries the potential risk of dural venous sinus injury given the extensive bony exposure. Identification of the dural venous sinuses can be challenging in patients with craniosynostosis given the lack of accurate surface-localizing landmarks. Computer-aided design and manufacturing (CAD/CAM) has allowed surgeons to pre-operatively plan these complex procedures in an effort to increase reconstructive efficiency. An added benefit of this technology is the ability to intraoperatively map the dural venous sinuses based on pre-operative imaging...
September 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28914870/-shunt-induced-craniosynostosis-topicality-of-the-problem-choice-of-the-approach-and-features-of-surgical-treatment
#5
S A Kim, G V Letyagin, V E Danilin, A A Sysoeva
RATIONALE: Shunt-induced craniosynostosis is one of the late complications of CSF shunting surgery, which affects the patient's condition, clinical picture, and treatment approach. OBJECTIVE: to evaluate the prevalence rate and clinical significance of this disease, define the indications for surgery, and choose the optimal surgical approach. MATERIAL AND METHODS: The study included 59 children with shunt system dysfunction, aged 1 to 14 years, who were treated at the Department in the period from 2014 to 2016...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28914635/clinical-genetics-of-craniosynostosis
#6
Andrew O M Wilkie, David Johnson, Steven A Wall
PURPOSE OF REVIEW: When providing accurate clinical diagnosis and genetic counseling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between. This review will scope out how recent genetic discoveries from next-generation sequencing have impacted on the clinical genetic evaluation of craniosynostosis. RECENT FINDINGS: Survey of a 13-year birth cohort of patients treated at a single craniofacial unit demonstrates that a genetic cause of craniosynostosis can be identified in one quarter of cases...
September 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28913298/the-unnecessity-of-positron-emission-tomography-computed-tomography-in-the-etiologic-evaluation-of-neurodevelopmental-delay-in-craniosynostosis-patients
#7
Chae Eun Yang, Eun Kyung Park, Myung Chul Lee, Kyu Won Shim, Yong Oock Kim
BACKGROUND: In evaluation of craniosynostosis patients in terms of neurodevelopmental delay, positron emission tomography computed tomography (PET-CT) scan can be used to assess brain abnormalities through glucose metabolism. We aimed to determine the unnecessity of PET-CT in this study. METHODS: Thirty-eight patients diagnosed with craniosynostosis who underwent distraction osteogenesis from October, 2010 to November, 2013 were reviewed. Magnetic resonance imaging (MRI) and PET-CT scan were carried out for evaluation of the brain structure and function, whereas X-ray and CT scan were taken for evaluation of the skull...
March 2017: Arch Craniofac Surg
https://www.readbyqxmd.com/read/28913286/treatment-of-nonsyndromic-craniosynostosis-using-multi-split-osteotomy-and-rigid-fixation-with-absorbable-plates
#8
Su Bong Nam, Kyeong Wook Nam, Jae Woo Lee, Kyeong Ho Song, Yong Chan Bae
BACKGROUND: Nonsyndromic craniosynostosis is a relatively common craniofacial anomaly and various techniques were introduced to achieve its operative goals. Authors found that by using smaller bone fragments than that used in conventional cranioplasty, sufficiently rigid bone union and effective regeneration capacity could be achieved with better postoperative outcome, only if their stable fixation was ensured. METHODS: Through bicoronal incisional approach, involved synostotic cranial bone together with its surrounding areas were removed...
December 2016: Arch Craniofac Surg
https://www.readbyqxmd.com/read/28904587/complete-resolution-of-papilledema-in-syndromic-craniosynostosis-with-posterior-cranial-vault-distraction
#9
Melissa LoPresti, Edward P Buchanan, Veeral Shah, Caroline M Hadley, Laura A Monson, Sandi Lam
We report a case of surgical management of Crouzon syndrome with multisuture craniosynostosis presenting with increased intracranial pressure (ICP) manifesting with chronic papilledema without ventriculomegaly. A 12-month-old boy had complete resolution of papilledema after posterior cranial vault distraction followed by staged fronto-orbital advancement. Expansion of the cranial vault with posterior distraction osteogenesis posed an elegant treatment, obviating ventriculoperitoneal shunt placement for cerebrospinal fluid (CSF) diversion...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28904366/identification-of-stiffness-induced-signalling-mechanisms-in-cells-from-patent-and-fused-sutures-associated-with-craniosynostosis
#10
Sara Barreto, Arlyng González-Vázquez, Andrew R Cameron, Fergal J O'Brien, Dylan J Murray
Craniosynostosis is a bone developmental disease where premature ossification of the cranial sutures occurs leading to fused sutures. While biomechanical forces have been implicated in craniosynostosis, evidence of the effect of microenvironmental stiffness changes in the osteogenic commitment of cells from the sutures is lacking. Our aim was to identify the differential genetic expression and osteogenic capability between cells from patent and fused sutures of children with craniosynostosis and whether these differences are driven by changes in the stiffness of the microenvironment...
September 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28894592/changes-in-delta-adc-reflect-intracranial-pressure-changes-in-craniosynostosis
#11
Yuko Takahashi, Masaaki Hori, Kazuaki Shimoji, Masakazu Miyajima, Osamu Akiyama, Hajime Arai, Shigeki Aoki
BACKGROUND: In patients with craniosynostosis, intracranial pressure (ICP) has been reported to increase even in the absence of overt symptoms. The early and non-invasive detection of intracranial hypertension is important for reducing the risk of abnormal brain development in pediatric patients. PURPOSE: To assess whether the apparent diffusion coefficient (ADC) of white matter during the cardiac cycle (ΔADC) would change after surgery to relieve ICP in children with craniosynostosis...
September 2017: Acta Radiologica Open
https://www.readbyqxmd.com/read/28885444/surgical-treatment-of-nonsyndromic-craniosynostosis
#12
Kristen A Klement, Karri A Adamson, Narges L Horriat, Arlen D Denny
Studies on the treatment of nonsyndromic craniosynostosis demonstrate decreasing morbidity and mortality; however, complication rates still range from 5% to 14%. Here, the authors present their last 10 years' experience treatment of nonsyndromic single suture craniosynostosis. A retrospective review was performed on patients who underwent open surgical treatment of nonsyndromic craniosynostosis over 10 years. Patient characteristics and clinical outcomes were reviewed. Radiological analysis of intracranial volumes was performed using Amira software...
September 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28885438/a-volumetric-and-craniometric-analysis-of-cranial-base-differences-in-unicoronal-craniosynostosis
#13
Daniel M Mazzaferro, Ari M Wes, Sanjay Naran, Scott P Bartlett, Jesse A Taylor
BACKGROUND: The authors hypothesized that patients with unicoronal craniosynostosis (UCS) have deviation of the vault, cranial base, and face resulting in significant differences in skull base morphology and segmental cranial vault volume relative to nonaffected controls. METHODS: Unicoronal craniosynostosis patients were collected from the authors' IRB-approved, prospective, craniofacial registry; controls were from a trauma registry. Mimics software was used to compare those with UCS to controls for a series of standardized craniometric angles and distances...
September 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28857534/-postural-deformities-of-the-skull-advantages-of-protocolization-in-its-treatment
#14
A Y Molina Caballero, A Pérez Martínez, S Hernández Martín, L Ayuso González, J Pisón Chacón
INTRODUCTION: Since 2007, we have examined in our medical practice children with cranial deformities. The increasing demand and lack of professionals dedicated to it has forced us to assume the treatment of this disease. We present our experience. MATERIAL AND METHODS: Retrospective study of patients with cranial deformities treated from 2010 to 2015. We collected data as age at the first visit and at discharge, sequential measurements of the skull and cranial index, type of treatment prescribed (postural, orthosis or both) and consultation requested to other specialties...
April 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28846100/composition-and-dosage-of-a-multipartite-enhancer-cluster-control-developmental-expression-of-ihh-indian-hedgehog
#15
Anja J Will, Giulia Cova, Marco Osterwalder, Wing-Lee Chan, Lars Wittler, Norbert Brieske, Verena Heinrich, Jean-Pierre de Villartay, Martin Vingron, Eva Klopocki, Axel Visel, Darío G Lupiáñez, Stefan Mundlos
Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosynostosis and synpolydactyly. We show through transgenic reporter and genome-editing studies in mice that Ihh is regulated by a constellation of at least nine enhancers with individual tissue specificities in the digit anlagen, growth plates, skull sutures and fingertips...
August 28, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28845899/pfeiffer-syndrome-oral-healthcare-management-and-description-of-new-dental-findings-in-a-craniosynostosis
#16
Yazan Hassona, Abeer Al-Hadidi, Thaer Abu Ghlassi, Hanin El Dali, Crispian Scully
Pfeiffer syndrome is a rare fibroblast growth factor receptor-related craniosynostosis with variable clinical presentations. We describe new dental findings of hypodontia, microdontia, dilacerations, and radicular dentin dysplasia in a 19-year-old girl, and discuss the oral health management.
August 28, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/28844842/cerebral-vein-malformations-result-from-loss-of-twist1-expression-and-bmp-signaling-from-skull-progenitor-cells-and-dura
#17
Max A Tischfield, Caroline D Robson, Nicole M Gilette, Shek Man Chim, Folasade A Sofela, Michelle M DeLisle, Alon Gelber, Brenda J Barry, Sarah MacKinnon, Linda R Dagi, Jeremy Nathans, Elizabeth C Engle
Dural cerebral veins (CV) are required for cerebrospinal fluid reabsorption and brain homeostasis, but mechanisms that regulate their growth and remodeling are unknown. We report molecular and cellular processes that regulate dural CV development in mammals and describe venous malformations in humans with craniosynostosis and TWIST1 mutations that are recapitulated in mouse models. Surprisingly, Twist1 is dispensable in endothelial cells but required for specification of osteoprogenitor cells that differentiate into preosteoblasts that produce bone morphogenetic proteins (BMPs)...
September 11, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28841620/a-treatment-algorithm-for-patients-presenting-with-sagittal-craniosynostosis-after-the-age-of-1-year
#18
Edward J Ruane, Catharine B Garland, Liliana Camison, Regina A Fenton, Ken K Nischal, Ian F Pollack, Mandeep S Tamber, Lorelei J Grunwaldt, Joseph E Losee, Jesse A Goldstein
BACKGROUND: Sagittal craniosynostosis typically presents shortly after birth, with a scaphocephalic head shape, and is addressed surgically for functional and aesthetic concerns. This study highlights the authors' experience with a challenging patient population: those with phenotypically mild, missed, and late-developing sagittal craniosynostosis. METHODS: A prospective cohort study was conducted for all cases of sagittal craniosynostosis presenting to the authors' institution between July of 2013 and December of 2015...
September 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28841619/discussion-minor-suture-fusion-in-syndromic-craniosynostosis
#19
Jeffrey A Fearon
No abstract text is available yet for this article.
September 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28841110/assessment-of-spring-cranioplasty-biomechanics-in-sagittal-craniosynostosis-patients
#20
Alessandro Borghi, Silvia Schievano, Naiara Rodriguez Florez, Roisin McNicholas, Will Rodgers, Allan Ponniah, Greg James, Richard Hayward, David Dunaway, N U Owase Jeelani
OBJECTIVE Scaphocephaly secondary to sagittal craniosynostosis has been treated in recent years with spring-assisted cranioplasty, an innovative approach that leverages the use of metallic spring distractors to reshape the patient skull. In this study, a population of patients who had undergone spring cranioplasty for the correction of scaphocephaly at the Great Ormond Street Hospital for Children was retrospectively analyzed to systematically assess spring biomechanical performance and kinematics in relation to spring model, patient age, and outcomes over time...
August 25, 2017: Journal of Neurosurgery. Pediatrics
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