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Craniosynostosis

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https://www.readbyqxmd.com/read/28538077/monobloc-frontofacial-or-le-fort-iii-distraction-osteogenesis-in-syndromic-craniosynostosis-three-dimensional-evaluation-of-treatment-outcome-and-the-need-for-central-distraction
#1
Ching-Hsuan Hu, Chieh-Tsai Wu, Ellen Wen-Ching Ko, Philip Kuo-Ting Chen
BACKGROUND: The objectives of this study were to investigate the treatment effect, morphology, and volumetric outcomes of monobloc frontofacial or Le Fort III distraction osteogenesis in syndromic craniosynostosis by 3-dimensional evaluation. MATERIALS AND METHODS: Nine consecutive patients underwent monobloc frontofacial or Le Fort III distraction during 2003 to 2012 were included and evaluated. The patient's evaluation is a minimum of a 4-year follow-up. Pretreatment, post-treatment advancement, and relapse were quantified...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28538070/one-stage-treatment-for-adult-patients-with-crouzonoid-appearance-by-orthognathic-and-face-contouring-surgery
#2
Byung Jun Kim, Hahn Sol Bae, Yoonho Lee
Crouzon syndrome is a rare genetic disorder with autosomal-dominant inheritance that shows a triad of hallmark characteristics: craniosynostosis, exophthalmos, and midface retrusion. General treatment protocol for patients with Crouzon syndrome has already been established, but there is no standard treatment strategy for adult patients with Crouzonoid appearance. The authors present clinical patients of 1-stage orthognathic and face contouring surgery to achieve functional and aesthetic improvement.One-stage surgery was performed in adult patients with Crouzonoid appearance without a history of facial surgery...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28538065/squamosal-suture-synostosis-incidence-associations-and-implications-for-treatment
#3
Blake D Murphy, Navid Ajabshir, Nolan Altman, S Anthony Wolfe, Chad Perlyn
Squamosal suture craniosynostosis is thought to be a relatively rare entity. In the authors' experience, it is underreported in imaging examinations and the existing literature. The authors sought to determine the incidence of squamosal synostosis, whether it is increasing in frequency, and its relationship with synostosis of the major calvarial sutures.Patients undergoing computed tomography imaging for suspected craniosynostosis over a 15-year period were reviewed by a plastic surgeon and pediatric neuroradiologist...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28524791/sagittal-craniosynostosis-a-utility-outcomes-study
#4
Victoria Kuta, P Daniel McNeely, Simon Walling, Michael Bezuhly
OBJECTIVE Sagittal craniosynostosis results in a characteristic scaphocephalic head shape that is typically corrected surgically during a child's 1st year of life. The authors' objective was to determine the potential impact of being born with sagittal craniosynostosis by using validated health state utility assessment measures. METHODS An online utility assessment was designed to generate health utility scores for scaphocephaly, monocular blindness, and binocular blindness using standardized utility assessment tools, namely the visual analog scale (VAS) and the standard gamble (SG) and time trade-off (TTO) tests...
May 19, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28524789/editorial-sagittal-craniosynostosis-what-matters-to-parents
#5
Ann-Christine Duhaime
No abstract text is available yet for this article.
May 19, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28521820/destabilization-of-the-twist1-e12-complex-dimerization-following-the-r154p-point-mutation-of-twist1-an-in-silico-approach
#6
Charlotte Bouard, Raphael Terreux, Agnès Tissier, Laurent Jacqueroud, Arnaud Vigneron, Stéphane Ansieau, Alain Puisieux, Léa Payen
BACKGROUND: The bHLH transcription factor TWIST1 plays a key role in the embryonic development and in tumorigenesis. Some loss-of-function mutations of the TWIST1 gene have been shown to cause an autosomal dominant craniosynostosis, known as the Saethre-Chotzen syndrome (SCS). Although the functional impacts of many TWIST1 mutations have been experimentally reported, little is known on the molecular mechanisms underlying their loss-of-function. In a previous study, we highlighted the predictive value of in silico molecular dynamics (MD) simulations in deciphering the molecular function of TWIST1 residues...
May 18, 2017: BMC Structural Biology
https://www.readbyqxmd.com/read/28520221/rap1b-is-an-effector-of-axin2-regulating-crosstalk-of-signaling-pathways-during-skeletal-development
#7
Takamitsu Maruyama, Ming Jiang, Alycia Abbott, H-M Ivy Yu, Qirong Huang, Magdalena Chrzanowska-Wodnicka, Emily I Chen, Wei Hsu
Recent identification and isolation of suture stem cells capable of long term self-renewal, clonal expanding and differentiating demonstrate their essential role in calvarial bone development, homeostasis and injury repair. These bona fide stem cells express high level of Axin2 and are able to mediate bone regeneration and repair in a cell autonomous fashion. The importance of Axin2 is further demonstrated by its genetic inactivation in mice causing skeletal deformities resembling craniosynostosis in humans...
May 18, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28513610/haploinsufficiency-of-znf462-is-associated-with-craniofacial-anomalies-corpus-callosum-dysgenesis-ptosis-and-developmental-delay
#8
Karin Weiss, Kristen Wigby, Madeleine Fannemel, Lindsay B Henderson, Natalie Beck, Neeti Ghali, D D D Study, Britt-Marie Anderlid, Johanna Lundin, Ada Hamosh, Marilyn C Jones, Sondhya Ghedia, Maximilian Muenke, Paul Kruszka
The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. These individuals have overlapping phenotypes that include ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28490159/neuroendoscopy-current-and-future-perspectives
#9
REVIEW
Kyu Won Shim, Eun Kyung Park, Dong-Seok Kim, Joong-Uhn Choi
Neuroendoscopic surgery is performed because it causes minimal damage to normal structures, carries a lower rate of complications, and achieves excellent outcomes. Surgeons using an endoscope and related instruments can perform complex operations through very small incisions, which is especially useful for minimally invasive procedures for the brain and spine. Neuroendoscopic surgery is now performed in cases of obstructive hydrocephalus, various intraventricular lesions, hypothalamic hamartomas, craniosynostosis, skull base tumors, and spinal lesions...
May 2017: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/28474983/endoscopic-surgery-for-patients-with-syndromic-craniosynostosis-and-the-requirement-for-additional-open-surgery
#10
David S Hersh, Julie E Hoover-Fong, Natalie Beck, Amir H Dorafshar, Edward S Ahn
OBJECTIVE Recent reports have described early endoscopic suturectomy as a treatment option for patients with syndromic craniosynostosis, but such patients often require subsequent calvarial remodeling. The authors describe their experience with this patient population and seek to identify predictors of sufficiency of endoscopic surgery alone. METHODS The medical records of patients with syndromic craniosynostosis who underwent endoscopic repair were retrospectively reviewed. Demographic data, operative details, and follow-up data were collected...
May 5, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28470873/bmp9-induces-osteogenesis-and-adipogenesis-in-the-immortalized-human-cranial-suture-progenitors-from-the-patent-sutures-of-craniosynostosis-patients
#11
Dongzhe Song, Fugui Zhang, Russell R Reid, Jixing Ye, Qiang Wei, Junyi Liao, Yulong Zou, Jiaming Fan, Chao Ma, Xue Hu, Xiangyang Qu, Liqun Chen, Li Li, Yichun Yu, Xinyi Yu, Zhicai Zhang, Chen Zhao, Zongyue Zeng, Ruyi Zhang, Shujuan Yan, Tingting Wu, Xingye Wu, Yi Shu, Jiayan Lei, Yasha Li, Wenwen Zhang, Jia Wang, Michael J Lee, Jennifer Moriatis Wolf, Dingming Huang, Tong-Chuan He
The cranial suture complex is a heterogeneous tissue consisting of osteogenic progenitor cells and mesenchymal stem cells (MSCs) from bone marrow and suture mesenchyme. The fusion of cranial sutures is a highly coordinated and tightly regulated process during development. Craniosynostosis is a congenital malformation caused by premature fusion of cranial sutures. While the progenitor cells derived from the cranial suture complex should prove valuable for studying the molecular mechanisms underlying suture development and pathogenic premature suture fusion, primary human cranial suture progenitors (SuPs) have limited life span and gradually lose osteoblastic ability over passages...
May 4, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28470385/the-metopic-sagittal-craniosynostosis-report-of-35-operative-cases
#12
Takeyoshi Shimoji, Takaoki Kimura, Kazuaki Shimoji, Masakazu Miyajima
PURPOSE: We have diagnosed 35 cases of the supposedly rare condition metopic-sagittal synostosis in the past 20 years. Here, we introduce their clinical symptoms, neuroradiological findings, and surgical treatment methods, as well as discuss the relevant literature. METHODS: Subjects included 35 patients (33 boys and 2 girls; mean age 4.2 years; range 1-8 years). Magnetic resonance imaging (MRI) confirmed that there were no abnormal findings in the brain. Thirty patients presented with symptoms including speech delay, hyperactivity, autistic tendency, motor impairment, self-mutilation, and panic/temper tantrum behaviors...
May 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28468154/anthropometric-outcome-measures-in-patients-with-metopic-craniosynostosis
#13
Scott J Farber, Dennis C Nguyen, Gary B Skolnick, Sybill D Naidoo, Matthew D Smyth, Kamlesh B Patel
PURPOSE: Treatment of metopic craniosynostosis is performed by either fronto-orbital advancement (FOA) or endoscopic-assisted techniques. Interfrontal angle (IFA) is a validated measure of trigonocephaly, but requires a computed tomography scan. The most common direct measure to assess surgical outcome in patients with trigonocephaly is frontal width (ft-ft). The aim of this study is to determine if frontal width correlates with IFA and successful surgical correction 1 year after treatment...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28468151/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#14
Brent B Pickrell, Jesse D Meaike, Karina T Cañadas, Binoy M Chandy, Edward P Buchanan
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28468147/a-surgical-technique-for-management-of-the-metopic-suture-in-syndromic-craniosynostosis
#15
Jose Rolando Prada-Madrid, Lina Patricia Franco-Chaparro, Miguel Garcia-Wenninger, Tatiana Palomino-Consuegra, Nora Stanford, Diego Alejandro Castañeda-Hernández
OBJECTIVES: The objective is to describe a new surgical procedure developed in the San Jose Pediatric University Hospital for the management of syndromic synostosis of the metopic suture in a patient clinically diagnosed with Saethre-Chotzen syndrome. METHODS: The diagnosis of Saethre-Chotzen syndrome, bilateral coronal sutures, and metopic suture synostoses was made through photographic, anthropometric, exophthalmometric, and computed tomography analysis. The keel-like frontal bone deformity was corrected following resection using a fusiform osteotomy, remodelling was obtained by milling the edges, and the bony fragments were repositioned and fixed on the posterior wall of the frontal bone...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28468145/experiences-in-performing-posterior-calvarial-distraction
#16
Kevin McMillan, Mark Lloyd, Martin Evans, Nicholas White, Hiroshi Nishikawa, Desiderio Rodrigues, Melanie Sharp, Pete Noons, Guirish Solanki, Stephen Dover
The use of posterior calvarial distraction (PCD) for the management of craniosynostosis is well recognized. The advantages of using this technique include increased cranial volume, decreased intracranial pressure, relief of posterior fossa crowding, improved cerebrospinal fluid (CSF) circulation at the cranio-cervical junction with cessation, and possible resolution of syrinx.The authors retrospectively review their first 50 patients who have undergone PCD under the senior author's care in our unit.The demographics, diagnoses, intraoperative approach with techniques in distractor placement and outcomes of each patient were obtained through an electronic craniofacial database and written patient records...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28456388/risk-factors-for-delayed-referral-to-a-craniofacial-specialist-for-treatment-of-craniosynostosis
#17
Brad M Gandolfi, Danielle L Sobol, Alfredo E Farjat, Alexander C Allori, Carrie R Muh, Jeffrey R Marcus
OBJECTIVE: To assess the impact of age at referral on treatment options in craniosynostosis and to identify risk factors for referral delays in this population. STUDY DESIGN: A retrospective cohort study was performed on patients with an abnormal head shape diagnosis treated at a single academic medical center between January 1, 2004 and January 1, 2014. Newly diagnosed patients with craniosynostosis were identified and referral patterns were examined. A multivariate logistic regression model was used to identify risk factors associated with the range of ages at initial referral...
April 26, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28440577/variable-developmental-delays-and-characteristic-facial-features-a-novel-7p22-3p22-2-microdeletion-syndrome
#18
Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28436074/an-evaluation-of-the-mixed-pediatric-unit-for-blood-loss-replacement-in-pediatric-craniofacial-surgery
#19
Stefan Mogensen, Norbert Lubenow, Pelle Nilsson, Henrik Engquist, Folke Knutsson, Per Enblad, Daniel Nowinski, Peter Frykholm
BACKGROUND: Surgical correction for craniosynostosis is often associated with significant perioperative hemorrhage. We implemented a transfusion strategy with a strict protocol including transfusion triggers, frequent assessment of coagulation tests, and the use of a novel transfusion unit, the mixed pediatric unit. AIM: The aim of the study was to evaluate if the applied transfusion strategy could reduce total blood loss and number of blood donors. METHODS: Children <1 year old admitted for craniosynostosis surgery were included for the study...
April 23, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28434829/use-of-cutting-guides-during-craniosynostosis-sequelae-surgery-a-comparative-study-between-computer-assisted-planning-and-post-operative-results
#20
Chrystelle Queiros, Aline Joly, Arnaud Paré, Antoine Listrat, Nadine Travers, Dominique Goga, Boris Laure
BACKGROUND: The authors compared results of craniofacial reconstruction surgery using cutting guides with planned reconstruction on patients presenting craniosynostosis surgery sequelae. METHODS: This is a retrospective study performed on seven patients who had undergone craniofacial reconstructive surgery in University Hospital Center of Tours (France) in 2015. Patients had long-term sequelae of trigonocephaly and anterior plagiocephaly surgery. 3D computer model was constructed, based on CT scans and used for surgical planning...
March 28, 2017: Journal of Cranio-maxillo-facial Surgery
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