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https://www.readbyqxmd.com/read/27922969/orbital-morphometry-a-computed-tomography-analysis
#1
Jaswinder Singh, Roselinda Ab Rahman, Zainul Ahmad Rajion, Johari Abdullah, Irfan Mohamad
INTRODUCTION: The human orbit is a complex anatomic region, which plays predominant role in the evaluation of craniofacial complex. A thorough understanding of the relationship of the distance from orbital rim to the important vital structures of the orbital apex is required for the surgeon to perform safe and effective surgery. OBJECTIVES: To evaluate and compare the depth and distances from various points of the orbital rim to the fissures and foramina of the orbital apex between genders in the local population...
December 5, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27922967/cervical-spine-deformity-in-long-standing-untreated-congenital-muscular-torticollis
#2
Mohammed Ahmed Hussein, In Sik Yun, Hanna Park, Yong Oock Kim
BACKGROUND: Congenital muscular torticollis (CMT) is a benign condition. With early diagnosis and appropriate management, it can be cured completely, leaving no residual deformity. However, long-standing, untreated CMT can lead to permanent craniofacial deformities and asymmetry. METHODS: Four adult patients presented to the author with long-standing, untreated CMT. Initial clinical assessment demonstrated tightness of the sternocleidomastoid muscle on the affected side...
December 5, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27922965/prevalence-of-different-forms-and-involved-bones-of-craniofacial-fibrous-dysplasia
#3
Liya Yang, Huanhuan Wu, Jianjian Lu, Li Teng
BACKGROUND: The purposes of this study were to analyze the prevalence of various craniofacial bones involved in patients with craniofacial fibrous dysplasia (CFD) and to demonstrate the most common form and bone involvement in patients with CFD for surgeons. METHODS: To address the research purpose, the authors designed and performed a systematic review with meta-analysis. A comprehensive electronic search without date was performed in August 2013. Data extracted from the previously published literature were analyzed with STATA 11...
December 5, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27922963/publication-trends-in-craniofacial-distraction-a-bibliometrical-analysis
#4
Asra Hashmi, Adam Schumaier, Shenita White, Christina Yi, Faraz A Khan, Curtis J Hanba, Faisal Al-Mufarrej
PURPOSE: The purpose of this study was to analyze the craniofacial distraction literature published over the last 50 years and to determine various trends in publications. METHODS: A literature search was conducted in November and December 2015. The date search range was 1965 to 2015. Databases searched included Medline, Web of Science, Biosis, SciELO, Data Citation, and Zoologic Records. Data were collected on distraction type, author specialty, date of publication, country, state (if United States), number of citations, journal name, journal type, and Le Fort type (for midfacial distractions)...
December 5, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27922893/craniofacial-fibrous-dysplasia-retrospective-study-on-the-relationship-between-the-tumor-volume-changes-and-the-circulating-serum-calcitonin-and-serum-alkaline-phosphatase
#5
Mohammed Ahmed Hussein, In Sik Yun, Bo Ok Kim, Yong Oock Kim
BACKGROUND: The purpose of this study was to determine the usefulness of serum alkaline phosphatase (ALP) and calcitonin in the follow-up of tumor volume changes in patients with craniofacial fibrous dysplasia. METHODS: Twenty patients with isolated craniofacial fibrous dysplasia were included, who met our criteria for long-term follow-up. Three-dimensional computed tomography scans were obtained, and tumor segmentation was performed. The tumor volume was measured preoperatively, immediate postoperative and during long-term follow-up...
December 5, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27921292/cranial-joint-histology-in-the-mallard-duck-anas-platyrhynchos-new-insights-on-avian-cranial-kinesis
#6
Alida M Bailleul, Lawrence M Witmer, Casey M Holliday
The evolution of avian cranial kinesis is a phenomenon in part responsible for the remarkable diversity of avian feeding adaptations observable today. Although osteological, developmental and behavioral features of the feeding system are frequently studied, comparatively little is known about cranial joint skeletal tissue composition and morphology from a microscopic perspective. These data are key to understanding the developmental, biomechanical and evolutionary underpinnings of kinesis. Therefore, here we investigated joint microstructure in juvenile and adult mallard ducks (Anas platyrhynchos; Anseriformes)...
December 6, 2016: Journal of Anatomy
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#7
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920634/frontonasal-dysplasia-towards-an-understanding-of-molecular-and-developmental-aetiology
#8
REVIEW
Peter G Farlie, Naomi L Baker, Patrick Yap, Tiong Y Tan
The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27918537/the-genome-and-transcriptome-of-japanese-flounder-provide-insights-into-flatfish-asymmetry
#9
Changwei Shao, Baolong Bao, Zhiyuan Xie, Xinye Chen, Bo Li, Xiaodong Jia, Qiulin Yao, Guillermo Ortí, Wenhui Li, Xihong Li, Kristin Hamre, Juan Xu, Lei Wang, Fangyuan Chen, Yongsheng Tian, Alex M Schreiber, Na Wang, Fen Wei, Jilin Zhang, Zhongdian Dong, Lei Gao, Junwei Gai, Takashi Sakamoto, Sudong Mo, Wenjun Chen, Qiong Shi, Hui Li, Yunji Xiu, Yangzhen Li, Wenteng Xu, Zhiyi Shi, Guojie Zhang, Deborah M Power, Qingyin Wang, Manfred Schartl, Songlin Chen
Flatfish have the most extreme asymmetric body morphology of vertebrates. During metamorphosis, one eye migrates to the contralateral side of the skull, and this migration is accompanied by extensive craniofacial transformations and simultaneous development of lopsided body pigmentation. The evolution of this developmental and physiological innovation remains enigmatic. Comparative genomics of two flatfish and transcriptomic analyses during metamorphosis point to a role for thyroid hormone and retinoic acid signaling, as well as phototransduction pathways...
December 5, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27917906/novel-human-mutation-and-crispr-cas-genome-edited-mice-reveal-the-importance-of-c-terminal-domain-of-msx1-in-tooth-and-palate-development
#10
Silvia Naomi Mitsui, Akihiro Yasue, Kiyoshi Masuda, Takuya Naruto, Yoshiyuki Minegishi, Seiichi Oyadomari, Sumihare Noji, Issei Imoto, Eiji Tanaka
Several mutations, located mainly in the MSX1 homeodomain, have been identified in non-syndromic tooth agenesis predominantly affecting premolars and third molars. We identified a novel frameshift mutation of the highly conserved C-terminal domain of MSX1, known as Msx homology domain 6 (MH6), in a Japanese family with non-syndromic tooth agenesis. To investigate the importance of MH6 in tooth development, Msx1 was targeted in mice with CRISPR/Cas system. Although heterozygous MH6 disruption did not alter craniofacial development, homozygous mice exhibited agenesis of lower incisors with or without cleft palate at E16...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27917732/olfactory-neuroblastoma-14-year-experience-at-an-australian-tertiary-centre-and-the-role-for-longer-term-surveillance
#11
C Schmidt, N Potter, S Porceddu, B Panizza
BACKGROUND: Olfactory neuroblastoma is a rare sinonasal malignancy, with poorly defined treatment protocols. Management at a tertiary centre was retrospectively evaluated to inform future treatment and follow up. METHODS: Cases treated with curative intent (2000-2014) were included. Data were collected, and overall and disease-free survival rates were calculated. RESULTS: Eleven cases were identified, with a median follow up of 87 months. One patient was Kadish stage A, one was stage B, eight were stage C and one was stage D...
December 5, 2016: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/27916860/novel-pigt-variant-in-two-brothers-expansion-of-the-multiple-congenital-anomalies-hypotonia-seizures-syndrome-3-phenotype
#12
Nadia Skauli, Sean Wallace, Samuel C C Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo
Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs...
November 29, 2016: Genes
https://www.readbyqxmd.com/read/27913653/dimensional-evaluation-of-patient-specific-3d-printing-using-calcium-phosphate-cement-for-craniofacial-bone-reconstruction
#13
Liciane Sabadin Bertol, Rodrigo Schabbach, Luís Alberto Loureiro Dos Santos
The 3D printing process is highlighted nowadays as a possibility to generate individual parts with complex geometries. Moreover, the development of 3D printing hardware, software and parameters permits the manufacture of parts that can be not only used as prototypes, but are also made from materials that are suitable for implantation. In this way, this study investigates the process involved in the production of patient-specific craniofacial implants using calcium phosphate cement, and its dimensional accuracy...
December 1, 2016: Journal of Biomaterials Applications
https://www.readbyqxmd.com/read/27908786/distinct-requirements-of-wls-wnt9a-wnt5b-and-gpc4-in-regulating-chondrocyte-maturation-and-timing-of-endochondral-ossification
#14
Irving Tc Ling, Lucie Rochard, Eric C Liao
Formation of the mandible requires progressive morphologic change, proliferation, differentiation and organization of chondrocytes preceding osteogenesis. The Wnt signaling pathway is involved in regulating bone development and maintenance. Chondrocytes that are fated to become bone require Wnt to polarize and orientate appropriately to initiate the endochondral ossification program. Although the canonical Wnt signaling has been well studied in the context of bone development, the effects of non-canonical Wnt signaling in regulating the timing of cartilage maturation and subsequent bone formation in shaping ventral craniofacial structure is not fully understood...
November 29, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27905167/preoperative-surgical-simulation-and-validation-of-the-line-of-resection-in-anterolateral-craniofacial-resection-of-advanced-sinonasal-sinus-carcinoma
#15
Naoki Nishio, Masazumi Fujii, Yuichiro Hayashi, Mariko Hiramatsu, Takashi Maruo, Kenichiro Iwami, Yuzuru Kamei, Shunjiro Yagi, Keisuke Takanari, Yasushi Fujimoto
BACKGROUND: The purpose of this study was to assess the usefulness and accuracy of preoperative 3D virtual simulation of anterolateral craniofacial resection in cases of advanced sinonasal sinus carcinoma. METHODS: Seven patients with advanced (T4 classification) sinonasal sinus carcinoma who underwent anterolateral craniofacial resection in our hospital between 2011 and 2013 were included in this study. Postsimulation CT images were fused with postoperative CT images and differences between the planned and actual osteotomy were measured in 3 regions of the skull base...
December 1, 2016: Head & Neck
https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#16
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27900808/genetic-and-developmental-basis-for-fin-shape-variation-in-african-cichlid-fishes
#17
Dina Navon, Nathan Olearczyk, R Craig Albertson
Adaptive radiations are often characterized by the rapid evolution of traits associated with divergent feeding modes. For example, the evolutionary history of African cichlids is marked by repeated and coordinated shifts in skull, trophic, fin and body shape. Here, we seek to explore the molecular basis for fin shape variation in Lake Malawi cichlids. We first described variation within an F2 mapping population derived by crossing two cichlid species with divergent morphologies including fin shape. We then used this population to genetically map loci that influence variation in this trait...
November 4, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27898256/comparative-study-of-the-physiotherapeutic-and-drug-protocol-and-low-level-laser-irradiation-in-the-treatment-of-pain-associated-with-temporomandibular-dysfunction
#18
Marcos Fernando Xisto Braga Cavalcanti, Uoston Holder Silva, Ernesto Cesar Pinto Leal-Junior, Rodrigo A B Lopes-Martins, Rodrigo Labat Marcos, Rodney Capp Pallotta, Francesca Diomede, Oriana Trubiani, Natalia De Isla, Lucio Frigo
BACKGROUND: The temporomandibular joint (TMJ) is a structure of the craniofacial complex affected by neurological diseases. Orthopedic and musculoskeletal changes can also cause temporomandibular disorders (TMD) and pain. Low-level laser (LLL) therapy has been studied in the treatment of temporomandibular jaw (TMJ) dysfunction, and controversial results were obtained. OBJECTIVE: The objective of this work was comparing the physiotherapeutic and drug protocol (PDP) to LLL therapy in the treatment of pain associated with TMD...
November 29, 2016: Photomedicine and Laser Surgery
https://www.readbyqxmd.com/read/27898160/haptic-feedback-improves-surgeons-user-experience-and-fracture-reduction-in-facial-trauma-simulation
#19
Sabine Girod, Sara C Schvartzman, Dyani Gaudilliere, Kenneth Salisbury, Rebeka Silva
Computer-assisted surgical (CAS) planning tools are available for craniofacial surgery, but are usually based on computer-aided design (CAD) tools that lack the ability to detect the collision of virtual objects (i.e., fractured bone segments). We developed a CAS system featuring a sense of touch (haptic) that enables surgeons to physically interact with individual, patient-specific anatomy and immerse in a three-dimensional virtual environment. In this study, we evaluated initial user experience with our novel system compared to an existing CAD system...
2016: Journal of Rehabilitation Research and Development
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#20
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
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