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Craniofacial deformity

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https://www.readbyqxmd.com/read/29217065/orthognathic-considerations-of-vascular-malformations
#1
REVIEW
Luis Delgado, Avanti Verma, Teresa M O, Stuart Super
Vascular malformations affect the craniofacial skeleton in many ways, depending on the type of the lesion and its location. The lesions may exert a mass effect and cause thinning or thickening of the bone or cause expansion from direct bony infiltration. Orthognathic surgery can be used to correct any malocclusion or open bite deformities after the soft tissues are addressed.
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29216270/generation-and-characterization-of-kctd15-mutations-in-zebrafish
#2
Alison Heffer, Gregory D Marquart, Allisan Aquilina-Beck, Nabil Saleem, Harold A Burgess, Igor B Dawid
Potassium channel tetramerization domain containing 15 (Kctd15) was previously found to have a role in early neural crest (NC) patterning, specifically delimiting the region where NC markers are expressed via repression of transcription factor AP-2a and inhibition of Wnt signaling. We used transcription activator-like effector nucleases (TALENs) to generate null mutations in zebrafish kctd15a and kctd15b paralogs to study the in vivo role of Kctd15. We found that while deletions producing frame-shift mutations in each paralog showed no apparent phenotype, kctd15a/b double mutant zebrafish are smaller in size and show several phenotypes including some affecting the NC, such as expansion of the early NC domain, increased pigmentation, and craniofacial defects...
2017: PloS One
https://www.readbyqxmd.com/read/29194345/embryonic-ethanol-exposure-affects-early-and-late-added-cardiac-precursors-and-produces-long-lasting-heart-chamber-defects-in-zebrafish
#3
Swapnalee Sarmah, James A Marrs
Drinking mothers expose their fetuses to ethanol, which produces birth defects: craniofacial defects, cognitive impairment, sensorimotor disabilities and organ deformities, collectively termed as fetal alcohol spectrum disorder (FASD). Various congenital heart defects (CHDs) are present in FASD patients, but the mechanisms of alcohol-induced cardiogenesis defects are not completely understood. This study utilized zebrafish embryos and older larvae to understand FASD-associated CHDs. Ethanol-induced cardiac chamber defects initiated during embryonic cardiogenesis persisted in later zebrafish life...
December 1, 2017: Toxics
https://www.readbyqxmd.com/read/29192866/frontoethmoidal-meningoencephalocele-appraisal-of-a-craniofacial-surgical-teaching-program-in-cambodia
#4
Franck-Emmanuel Roux, Cheng Ngiep Ou, Ratha Soum, James Gollogly, Imène Djidjeli, Frédéric Lauwers
OBJECTIVE The treatment of frontoethmoidal meningoencephaloceles (fMECs) in Cambodia was not possible before the development of a program that taught some Khmer surgeons (working at the Children's Surgical Centre in Phnom Penh) how to surgically correct these deformities without any foreign help. The results of that teaching program are discussed in this paper. METHODS Between 2004 and 2009, both local and visiting foreign neurosurgical and craniofacial surgeons (the visitors coming twice a year) worked together to operate on 200 patients, and a report on those cases was published in 2010...
December 1, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29192304/association-of-hearing-loss-and-otologic-outcomes-with-fibrous-dysplasia
#5
Alison M Boyce, Carmen Brewer, Timothy R DeKlotz, Christopher K Zalewski, Kelly A King, Michael T Collins, H Jeffrey Kim
Importance: Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare bone and endocrine disorders in which expansile fibro-osseous lesions result in deformity, pain, and functional impairment. The effect of FD on hearing and otologic function has not been established. Objectives: To characterize audiologic and otologic manifestations in a large cohort of individuals with FD/MAS and to investigate potential mechanisms of hearing loss. Design, Setting, and Participants: In this natural history study, individuals with craniofacial FD seen at a clinical research center underwent clinical, biochemical, computed tomographic, audiologic, and otolaryngologic evaluations...
November 30, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29184738/nasal-duplication-combined-with-cleft-lip-and-palate-surgical-correction-and-long-term-follow-up
#6
Kanharith Long, Kazuaki Yamaguchi, Daniel Lonic, Vanna Long, Vuthy Chhoeurn, Lun-Jou Lo
Background: Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. Methods: The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate. The baby was born in Cambodia at full term by normal vaginal delivery with no significant perinatal and family history. Physical examination revealed significant facial deformity due to the duplicated nose and the left complete cleft lip/palate on the right subset...
October 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29174553/primary-aesthetic-correction-of-nasal-anomaly-with-costal-graft-in-treating-orbital-hypertelorism
#7
Dong Li, Haoli Mao, Zheyuan Yu, Liang Xu, Jie Yuan, Min Wei
Orbital hypertelorism is a common congenital craniofacial anomaly in Asians. As Tessier pointed out, the correction of hypertelorism is effectively the correction of the nasal deformity, which is characterized by a broad, flat nose accompanying an increased interorbital distance and a lack of nasal projection. OBJECTIVES: To measure the changes in the orbital and nasal parameters after Tessier box osteotomy and primary aesthetic rhinoplasty, performed concurrently with otogenous costochondral graft...
October 13, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29149498/association-between-a-single-nucleotide-polymorphism-in-the-grem1-gene-and-nonsyndromic-orofacial-cleft-in-the-chinese-population
#8
Xiaotong Wang, Hongquan Song, Xiaohui Jiao, Yanru Hao, Wei Zhang, Yuwei Gao, Yong Li, Na Mi, Jiaqun Yan
BACKGROUND: Nonsyndromic orofacial cleft (NSOC) is a common craniofacial deformity among newborns. The GREM1 gene is correlated with orofacial development. The aim of our study was to investigate the association between a single-nucleotide polymorphism in the GREM1 gene and this malformation in the Chinese population. METHODS: The SNaPshot mini sequencing technique was used to genotype the locus rs1258763 of the GREM1 gene in 331 patients with NSOC and 271 individuals in a control group...
November 17, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29135727/comparative-cost-analysis-of-single-and-mutli-stage-temporal-deformity-correction-following-neurosurgical-procedures
#9
Anthony Asemota, Gabriel F Santiago, Susan Zhong, Chad R Gordon
PURPOSE: Temporal hollowing deformity (THD) is a visible concavity/convexity in the temporal fossa; a complication often seen following neurosurgical/craniofacial procedures. Although numerous techniques have been described, no study to date has shown the healthcare costs associated with temporal hollowing correction surgery. Thus, the purpose here is to compare and contrast the direct costs related to temporal cranioplasty using various methods including: liquid poly-methyl-methacrylate (PMMA) implants with screw fixation, prebent, modified titanium mesh implants, and customized cranial implants (CCIs) with dual-purpose design...
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29122337/study-of-anatomical-variations-of-the-zygomaticofacial-foramen-and-calculation-of-reliable-reference-points-for-operation
#10
A Ferro, S Basyuni, C Brassett, V Santhanam
Dissection on to the facial aspect of the zygoma is common in procedures of the midface for trauma, craniofacial deformity, and cosmesis. These procedures carry the risk of injury to the neurovascular structures that exit from the zygomaticofacial foramen (ZFF). The purpose of this study was to map the ZFF, and to establish reliable reference points from which to identify it before and during operation. We also aimed to compare the anatomy of the ZFF between sexes and among geographical populations. A total of 429 adult skulls from nine geographical sites were used...
November 6, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/29114430/clinical-and-radiographic-features-of-parry-romberg-syndrome
#11
Mithula Nair, Vidya Ajila, Shruthi Hegde, G Subhas Babu, Rumela Ghosh
Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months...
2017: Journal of Istanbul University Faculty of Dentistry
https://www.readbyqxmd.com/read/29110198/surgical-management-of-craniosynostosis-in-the-setting-of-a%C3%A2-ventricular-shunt-a-case-series-and-treatment-algorithm
#12
Michael S Golinko, Danielle N Atwood, Eylem Ocal
PURPOSE: Cerebrospinal fluid diversion via ventricular shunt is a common treatment for hydrocephalus. Change in cranial morphology associated with a sutural fusion has been termed shunt-related or induced craniosynostosis (SRC) or craniocerebral disproportion (CCD). We present a series of patients with SRC who underwent cranial vault remodeling (CVR) and our treatment algorithm. METHODS: Thirteen patients were retrospectively reviewed who had SRC and CVR; 92% of patients had a ventriculoperitoneal (VP) shunt placed for largely intraventricular hemorrhage of prematurity (69% of patients) at a mean age of 2...
November 6, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29103441/enpp1-and-esr1-genotypes-associated-with-subclassifications-of-craniofacial-asymmetry-and-severity-of-temporomandibular-disorders
#13
Kay Chung, Tabitha Richards, Romain Nicot, Alexandre R Vieira, Christiane V Cruz, Gwénaël Raoul, Joel Ferri, James J Sciote
INTRODUCTION: We investigated whether ACTN3, ENPP1, ESR1, PITX1, and PITX2 genes which contribute to sagittal and vertical malocclusions also contribute to facial asymmetries and temporomandibular disorders (TMD) before and after orthodontic and orthognathic surgery treatment. METHODS: One hundred seventy-four patients with a dentofacial deformity were diagnosed as symmetric or subdivided into 4 asymmetric groups according to posteroanterior cephalometric measurements...
November 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/29068964/an-algorithm-for-managing-intraosseous-vascular-anomalies-of-the-craniofacial-skeleton
#14
Kathryn V Isaac, Tara Lynn Teshima, Richard I Aviv, Mahmood Fazl, Leodante da Costa, Todd Mainprize, Oleh Antonyshyn
BACKGROUND: Intraosseous vascular anomalies (IOVA) are rare in the craniofacial skeleton and present a diagnostic and therapeutic challenge. This study aims to describe the clinical management based on a large case series. METHODS: A retrospective chart review was performed and 9 IOVA were identified over a 15-year period. Data on demographics, diagnostic features, clinical management, and outcomes were reviewed. RESULTS: Five frontal bone IOVA and 4 orbital IOVA were identified...
October 24, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29049144/the-etiology-of-neuronal-development-in-craniosynostosis-a-working-hypothesis
#15
Eric D Brooks, Joel S Beckett, Jenny Yang, Andrew T Timberlake, Alexander H Sun, Carolyn Chuang, John A Persing
Craniosynostosis is one of the most common craniofacial conditions treated by neurologic and plastic surgeons. In addition to disfigurement, children with craniosynostosis experience significant cognitive dysfunction later in life. Surgery is performed in infancy to correct skull deformity; however, the field is at a crossroads regarding the best approach for correction. Since the cause of brain dysfunction in these patients has remained uncertain, the role and type of surgery might have in attenuating the later-observed cognitive deficits through impact on the brain has been unclear...
October 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29022055/illness-perceptions-are-associated-with-quality-of-life-in-patients-with-fibrous-dysplasia
#16
B C J Majoor, C D Andela, C R Quispel, M Rotman, P D S Dijkstra, N A T Hamdy, A A Kaptein, N M Appelman-Dijkstra
Fibrous dysplasia (FD) is a rare bone disorder in which normal bone is replaced by fibrous tissue resulting in pain, deformities, pathological fractures or asymptomatic disease. Illness perceptions are patients' cognitions and emotions about their illness and its treatment, which may impact on Quality of Life (QoL). Here, we explore illness perceptions in patients with FD compared to other disorders, identify factors associated with illness perceptions and evaluate their relationship with QoL. Ninety-seven out of 138 eligible patients from the LUMC FD cohort completed the Illness Perception Questionnaire-Revised (IPQ-R) and the Short Form-36 (SF-36)...
October 11, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29016128/acute-toxicity-teratogenic-and-estrogenic-effects-of-bisphenol-a-and-its-alternative-replacements-bisphenol-s-bisphenol-f-and-bisphenol-af-in-zebrafish-embryo-larvae
#17
John Moreman, Okhyun Lee, Maciej Trznadel, Arthur David, Tetsuhiro Kudoh, Charles R Tyler
Bisphenol A (BPA), a chemical incorporated into plastics and resins, has estrogenic activity and is associated with adverse health effects in humans and wildlife. Similarly structured BPA analogues are widely used but far less is known about their potential toxicity or estrogenic activity in vivo. We undertook the first comprehensive analysis on the toxicity and teratogenic effects of the bisphenols BPA, BPS, BPF, and BPAF in zebrafish embryo-larvae and an assessment on their estrogenic mechanisms in an estrogen-responsive transgenic fish Tg(ERE:Gal4ff)(UAS:GFP)...
November 7, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28982117/3d-craniofacial-registration-using-thin-plate-spline-transform-and-cylindrical-surface-projection
#18
Yucong Chen, Junli Zhao, Qingqiong Deng, Fuqing Duan
Craniofacial registration is used to establish the point-to-point correspondence in a unified coordinate system among human craniofacial models. It is the foundation of craniofacial reconstruction and other craniofacial statistical analysis research. In this paper, a non-rigid 3D craniofacial registration method using thin-plate spline transform and cylindrical surface projection is proposed. First, the gradient descent optimization is utilized to improve a cylindrical surface fitting (CSF) for the reference craniofacial model...
2017: PloS One
https://www.readbyqxmd.com/read/28969194/evaluation-of-use-of-adipose-cells-in-various-procedures-of-plastic-surgery-and-its-volumetric-quantification-using-high-resolution-ultrasound
#19
Somashekar Gejje, Arun K Singh, P K Srivastava, Madhumati Goel, Vijay Kumar, Amrita Hongal
INTRODUCTION: Autologous fat transfer is based on one of the principles of plastic surgery, replace like with like. It is used in wide variety of aesthetic procedures such as lip, facial augmentation and reconstructive procedures such as involutional disorders, post traumatic defects etc. AIM: This prospective study was on the use of adipose cells in various procedures of plastic surgery, the role of high resolution ultrasound in estimating the volume of the grafted fat, comparison of the results based on the different donor sites of the harvested fat and comparison of the effectiveness of grafted fat in extremities and craniofacial region...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28950429/the-role-of-ellis-van-creveld-2-evc2-in-mice-during-cranial-bone-development
#20
Edwin K Kwon, Ke'ale Louie, Anshul Kulkarni, Marilia Yatabe, Antonio Carlos de Oliveira Ruellas, Taylor N Snider, Yoshiyuki Mochida, Lucia H S Cevidanes, Yuji Mishina, Honghao Zhang
EvC syndrome is a type of autosomal-recessive chondrodysplasia. Previous case studies in patients suggest abnormal craniofacial development, in addition to dwarfism and tooth abnormalities. To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest-specific mutant mice. The anatomic landmarks were placed on the surface model to assess the morphological abnormalities in the Evc2 mutants...
September 26, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
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