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Craniosynostosis

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https://www.readbyqxmd.com/read/28808027/de-novo-mutations-in-inhibitors-of-wnt-bmp-and-ras-erk-signaling-pathways-in-non-syndromic-midline-craniosynostosis
#1
Andrew T Timberlake, Charuta G Furey, Jungmin Choi, Carol Nelson-Williams, Erin Loring, Amy Galm, Kristopher T Kahle, Derek M Steinbacher, Dawid Larysz, John A Persing, Richard P Lifton
Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28802360/resolution-of-bilateral-sensorineural-hearing-loss-following-ventriculoperitoneal-shunt-and-literature-review
#2
A Jamshidi, C Glidewell, J Murnick, S Magge, B K Reilly
OBJECTIVE: The purpose of this study is to highlight the relationship between obstructive hydrocephalus, changes in intracranial pressure, and sensorineural hearing loss. METHODS: A case of a 10-month old infant with sensorineural hearing loss secondary to obstructive hydrocephalus is reported. A literature review, with a focus on sensorineural hearing loss in the setting of changes in intracranial pressure, was performed. RESULTS: The authors report the case of a 10-month old infant with metopic and bicoronal craniosynostosis who presented with bilateral moderately severe sensorineural hearing loss after failing newborn hearing screening...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28796105/overexpression-of-glypican-3-promotes-proliferation-regulates-cell-cycle-progression-and-inhibits-apoptosis-of-human-fetal-osteoblastic-cell-line-1-19
#3
Tianyi Cai, Yingzhi Wu, Ronghu Ke, Junyi Yang, Abdulsamad Ghanem, Xiongzheng Mu
Craniosynostosis is a complex disease condition, which involves premature fusion of cranial vault sutures and lacks desirable treatment. Previous studies have demonstrated decreased proliferation rate of osteoblasts and downregulated expression of glypican 3 (GPC3) in syndromic craniosynostosis patients. In this study, quantitative and qualitative analysis were utilized to assess the effect of GPC3 in human fetal osteoblastic cell line, hFOB 1.19. Lentiviral transfection efficiency with green fluorescent protein images was obtained after 72 hours...
August 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28790902/integration-of-brain-and-skull-in-prenatal-mouse-models-of-apert-and-crouzon-syndromes
#4
Susan M Motch Perrine, Tim Stecko, Thomas Neuberger, Ethylin W Jabs, Timothy M Ryan, Joan T Richtsmeier
The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28771243/b3gat3-related-disorder-with-craniosynostosis-and-bone-fragility-due-to-a-unique-mutation
#5
Kevin Yauy, Frederic Tran Mau-Them, Marjolaine Willems, Christine Coubes, Patricia Blanchet, Christian Herlin, Ikram Taleb Arrada, Elodie Sanchez, Jean-Michel Faure, Marie-Pascale Le Gac, Olivier Prodhomme, Anne Boland, Vincent Meyer, Jean-Baptiste Rivière, Yannis Duffourd, Jean-François Deleuze, Thomas Guignard, Guillaume Captier, Mouna Barat-Houari, David Genevieve
PurposeBased on prenatal suspicion of the combination of radioulnar or radiohumeral synostosis and a peculiar shape of the skull suggestive of craniosynostosis, we report on six patients from four unrelated consanguineous families in whom Antley-Bixler syndrome was suspected during the prenatal period without mutation in genes known to be associated with the syndrome.MethodsMolecular diagnosis involved whole-exome and gene-panel sequencing. RESULTS: All sequenced patients showed a unique homozygous mutation of c...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28769044/intercellular-genetic-interaction-between-irf6-and-twist1-during-craniofacial-development
#6
Walid D Fakhouri, Kareem Metwalli, Ali Naji, Sarah Bakhiet, Angela Quispe-Salcedo, Larissa Nitschke, Youssef A Kousa, Brian C Schutte
Interferon Regulatory Factor 6 (IRF6) and TWIST1 are transcription factors necessary for craniofacial development. Human genetic studies showed that mutations in IRF6 lead to cleft lip and palate and mandibular abnormalities. In the mouse, we found that loss of Irf6 causes craniosynostosis and mandibular hypoplasia. Similarly, mutations in TWIST1 cause craniosynostosis, mandibular hypoplasia and cleft palate. Based on this phenotypic overlap, we asked if Irf6 and Twist1 interact genetically during craniofacial formation...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28757702/clinical-characteristics-of-crouzon-syndrome
#7
L Balyen, L S Deniz Balyen, S Pasa
Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure...
May 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/28756967/the-self-defining-axis-of-symmetry-a-new-method-to-determine-optimal-symmetry-and-its-application-and-limitation-in-craniofacial-surgery
#8
Markus Martini, Anne Klausing, Martina Messing-Jünger, Guido Lüchters
PURPOSE: Analysis of symmetry represents an essential aspect of plastic-reconstructive surgery. For cases in which reference points are either not fixed or are changed due to corrective intervention the determination of a symmetry axis is sometimes almost impossible and a pre-defined symmetry axis would not always be helpful. To assess cranial shape of surgical patients with craniosynostosis, a new algebraic approach was chosen in which deviation from the optimal symmetry axis could be quantified...
July 6, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28749845/postnatal-development-of-the-spheno-occipital-synchondrosis-a-histological-analysis
#9
Jiewen Dai, Yuheng Lin, Ouyang Ningjuan, Jun Shi, Dedong Yu, Guofang Shen
The spheno-occipital synchondrosis (SOS) in cranial base is an important growth center for the craniofacial skeleton, and also is a guide rail for development of the maxilla, midface, and mandible. Previous studies showed that SOS may be a treatment target for youngsters with midfacial hypoplasia and small cranial vault secondary to craniosynostosis. However, most of studies about the SOS are based on imaging data. In this study, we try to explore the characteristics of postnatal development of the mouse SOS based on histological analysis...
July 26, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28747427/a-biallelic-mutation-in-il6st-encoding-the-gp130-co-receptor-causes-immunodeficiency-and-craniosynostosis
#10
Tobias Schwerd, Stephen R F Twigg, Dominik Aschenbrenner, Santiago Manrique, Kerry A Miller, Indira B Taylor, Melania Capitani, Simon J McGowan, Elizabeth Sweeney, Astrid Weber, Liye Chen, Paul Bowness, Andrew Riordan, Andrew Cant, Alexandra F Freeman, Joshua D Milner, Steven M Holland, Natalie Frede, Miryam Müller, Dirk Schmidt-Arras, Bodo Grimbacher, Steven A Wall, E Yvonne Jones, Andrew O M Wilkie, Holm H Uhlig
Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) who presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as skeletal abnormalities including craniosynostosis. The p.N404Y missense substitution is associated with loss of IL-6, IL-11, IL-27, and OSM signaling but a largely intact LIF response...
July 26, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28740400/multidisciplinary-care-of-craniosynostosis
#11
REVIEW
Edward P Buchanan, Yunfeng Xue, Amy S Xue, Asaf Olshinka, Sandi Lam
The management of craniosynostosis, especially in the setting of craniofacial syndromes, is ideally done in a multidisciplinary clinic with a team focused toward comprehensive care. Craniosynostosis is a congenital disorder of the cranium, caused by the premature fusion of one or more cranial sutures. This fusion results in abnormal cranial growth due to the inability of the involved sutures to accommodate the growing brain. Skull growth occurs only at the patent sutures, resulting in an abnormal head shape...
2017: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/28734753/cranial-bone-structure-in-children-with-sagittal-craniosynostosis-relationship-with-surgical-outcomes
#12
Naiara Rodriguez-Florez, Amel Ibrahim, J Ciaran Hutchinson, Alessandro Borghi, Greg James, Owen J Arthurs, Patrizia Ferretti, David Dunaway, Silvia Schievano, N U Owase Jeelani
BACKGROUND: While spring-assisted cranioplasty has become a widespread technique to correct scaphocephaly in children with sagittal synostosis, predicting head shape changes induced by the gradual opening of the springs remains challenging. This study aimed to explore the role of cranial bone structure on surgical outcomes. METHODS: Patients with isolated sagittal synostosis undergoing spring-assisted cranioplasty at GOSH (London, UK) were recruited (n = 18, age: 3-8 months)...
June 27, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28730625/fgf9-mutation-causes-craniosynostosis-along-with-multiple-synostoses
#13
Maria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, Alberta Belinchón, Isabel Guerrero-Zapata, Jimena Barraza-García, Elena Vallespin, Min Lu, Angela Del Pozo, Marc J Glucksman, Fernando Santos-Simarro, Karen E Heath
Craniosynostosis is commonly caused by mutations in fibroblast growth factor receptors (FGFRs), highlighting the essential role of FGF-mediated signaling in skeletal development. We set out to identify the molecular defect in a family referred for craniosynostosis and in whom no mutation was previously detected. Using next-generation sequencing, we identified a novel missense mutation in FGF9. Modeling based upon the crystal structure and functional studies confirmed its pathogenicity showing that it impaired homodimerization and FGFR3 binding...
July 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28724507/comparison-of-endocranial-morphology-according-to-age-in-one-piece-fronto-orbital-advancement-using-a-distraction-in-craniosynostotic-plagiocephaly
#14
Woo Shik Jeong, Ersin Altun, Jong Woo Choi, Young Shin Rah
The capacity for cranial remodelling is known to be better at younger ages. The timing of cranioplasty could affect the axis of the skull base. We investigated whether age at the time of distraction is related to the outcome of endocranial morphology correction. In this retrospective study, we investigated the surgical outcome of 14 patients with unilateral craniosynostotic plagiocephaly who underwent one-piece fronto-orbital advancement without bandeau by using a distraction technique between April 2005 and December 2015...
June 17, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28713746/unicoronal-craniosynostosis-and-plagiocephaly-correction-with-fronto-orbital-bone-remodeling-and-advancement
#15
S M Balaji
The standard surgical treatment for unilateral coronal synostosis is fronoto-orbital advancement. The technique is known for its high recurrence rate and established plagiocephaly remains a challenge. In this case report, the management of a 5-year-old with unicoronal plagiocephaly correction with fronto-orbital bone remodeling and advancement is presented. The previous surgery done at 6 months of age resulted in failure with establishment of hypertelorism and sudden progressive diminishing vision. Furthermore, temporal hallowing was evident in the imaging technique...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28696035/lin-gettig-syndrome-craniosynostosis-expands-the-spectrum-of-the-kat6b-related-disorders
#16
Rani A Bashir, Abhijit Dixit, Caitlin Goedhart, Jillian S Parboosingh, Allan M Innes, Patrick Ferreira, Shabih U Hasan, Ping-Yee B Au
We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation of both patients was initially thought to be suggestive of Lin-Gettig syndrome (LGS), a multiple malformation syndrome associated with craniosynostosis that was initially reported in two brothers in 1990, with a third patient reported in 2003. Our first patient was subsequently found through exome sequencing to have a de novo mutation in KAT6B, c...
July 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28694400/-co-occurrence-of-carpenter-syndrome-and-double-outlet-right-ventricle
#17
Osman Güvenç, Derya Çimen, Derya Arslan, İbrahim Güler
Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may frequently be accompanied by congenital heart diseases such as ventricular septal defect, patent ductus arteriosus and pulmonary stenosis. Double outlet right ventricle is a defect in which both major arteries originate in the morphological right ventricle...
July 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28694332/the-ets2-repressor-factor-erf-is-required-for-effective-primitive-and-definitive-hematopoiesis
#18
Ioanna Peraki, James Palis, George Mavrothalassitis
Erf is a ubiquitously expressed ets-DNA-binding containing transcriptional repressor. Erf haploinsufficiency causes craniosynostosis in human and mice, while its absence in mice leads to failed chorioallantoic fusion and death at E10.5. In this study, we show that Erf is required in all three waves of embryonic hematopoiesis. Mice lacking Erf in embryo proper exhibited severe anemia and died around embryonic day (E) 14.5. Erf epiblast specific knockout embryos had reduced numbers of circulating blood cells from E9...
July 10, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28692522/reconstructive-operation-of-nonsyndromic-multiple-suture-craniosynostosis-based-on-precise-virtual-plan-and-prefabricated-template
#19
Jian Ni, Bin Yang, Binghang Li
This report presents a case of a 4-year-old girl suffering from multiple-suture nonsyndromic craniosynostosis. The patient is characterized with fronto-orbital malformation and poor visual acuity. The preoperational three-dimensional computed tomography scan showed premature closure of the sagittal suture, bilateral coronal, and lambdoidal suture. The virtual surgical planning was performed before operation for the reposition of bone segments and communication with the patient's family. The navigational plate for reshaping was made based on the surgical plan with three-dimensional printed model...
July 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28692512/role-of-notch-signaling-in-the-physiological-patterning-of-posterofrontal-and-sagittal-cranial-sutures
#20
Xianwen Liu, Chao Zhang, Junjun Jing, Wei Peng, Songsong Zhu, Shujuan Zou
BACKGROUND: The mutations in a Notch signaling ligand, jagged 1, are associated with unilateral coronal craniosynostosis in humans. However, the underlying mechanisms of Notch signaling in cranial suture biology still remain unclear. METHODS: The temporal and spatial patterns of Notch signaling expression were examined in the posterofrontal and sagittal sutures of Sprague-Dawley rats by real-time quantitative reverse-transcription polymerase chain reaction at postnatal ages of 2, 15, and 25 days...
July 7, 2017: Journal of Craniofacial Surgery
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