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Craniofacial deformity

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https://www.readbyqxmd.com/read/29049144/the-etiology-of-neuronal-development-in-craniosynostosis-a-working-hypothesis
#1
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
#2
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
#3
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)...
October 10, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28982117/3d-craniofacial-registration-using-thin-plate-spline-transform-and-cylindrical-surface-projection
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28938315/proteus-syndrome-with-a-cranial-intraosseous-lipoma
#7
Erik M Wolfswinkel, Thomas A Imahiyerobo, J Gordon McComb, Pedro A Sanchez-Lara, Mark M Urata
Intraosseous lipomas are almost exclusively seen in the long bones. Presence in the craniofacial skeleton is extremely rare. A 7-year-old male is presented with a marked craniofacial deformation from a bony tumor containing an intraosseous lipoma. This finding established a clinical diagnosis of Proteus syndrome. Given the size of the tumor, producing an extensive deformity, three-dimensional modeling was used to generate a three-dimensional printed implant. The process to achieve a successful outcome is herein described...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28906329/cleft-lip-and-palate-repair-our-experience
#8
Gian Luca Gatti, Nicola Freda, Alessandro Giacomina, Marina Montemagni, Andrea Sisti
INTRODUCTION: Cleft lip and palate is the most frequent congenital craniofacial deformity. In this article, the authors describe their experience with cleft lip and palate repair. METHODS: Data regarding patients presenting with primary diagnosis of cleft lip and/or palate, between 2009 and 2015, were reviewed. Details including demographics, type of cleft, presence of known risk factors, surgical details, and follow-up visits were collected. Documented complications were reported...
September 12, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28902251/skeletal-effects-of-rme-in-the-transverse-and-vertical-dimensions-of-the-nasal-cavity-in-mouth-breathing-growing-children
#9
Mario Cappellette, Lucia Hatsue Yamamoto Nagai, Raquel Mori Gonçalves, Aparecida Keiko Yuki, Shirley Shizue Nagata Pignatari, Reginaldo Raimundo Fujita
Introduction: Maxillary constriction is a dentoskeletal deformity characterized by discrepancy in maxilla/mandible relationship in the transverse plane, which may be associated with respiratory dysfunction. Objective: The objective of this study was to evaluate the skeletal effects of RME on maxillary and nasal transverse dimensions and compare the differences between males and females. Methods: Sixty-one mouth-breathers patients with skeletal maxillary constriction (35 males and 26 females, mean age 9...
July 2017: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/28883880/semi-lobar-holoprosencephaly-with-vertebral-segmentation-defects
#10
Birendra Rai, Farhana Sharif
Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant was born at term by normal delivery. Birth head circumference was below the 3rd percentile. Antenatal scan had showed microcephaly as the only abnormality...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28839487/computed-tomography-in-craniofacial-fibrous-dysplasia-a-case-series-with-review-of-literature-and-classification-update
#11
REVIEW
Deepak Gupta, Preeti Garg, Amit Mittal
INTRODUCTION: Fibrous dysplasia (FD) is a fibroosseous lesion of the osseous structures of the body. It is not a commonly reported lesion yet it is considered as an important lesion which can affect the maxillofacial region as well. As a result, it can cause deformity of the jaw bones which can further lead to severe facial asymmetry. Craniofacial fibrous dysplasia (CFD) is one of the subtypes of FD that can affect the bones of the craniofacial complex, including the mandible and maxilla...
2017: Open Dentistry Journal
https://www.readbyqxmd.com/read/28834840/osseous-flap-of-galea-and-periosteum-filled-with-mesenchymal-stem-cells-platelet-rich-plasma-bone-dust-and-hyaluronic-acid
#12
Ryane Schmidt Brock, Fausto Viterbo, Elenice Deffune, Maria Aparecida Custodio Domingues, Maria Jaqueline Mamprim, Eloisa Elena Paschoalinotte
Reconstructive surgery to craniofacial deformities caused by tumor ressections, traumas or congenital malformation are frequent in medicine practice. It aims to provide the patients with better quality of life and functional improvement of speech, breathing, chewing, and swallowing. Many are the techniques described in the literature to recover bone defects. This study evaluated a vascularized galeal and periosteum flap in rabbits, which could possibly substitute the bone graft in reconstructive surgery, especially for facial defects...
October 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#13
Dong Li, Shanshan Bai, Zheyuan Yu, Liang Xu, Jie Yuan, Haisong Xu, Min Wei
AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28757702/clinical-characteristics-of-crouzon-syndrome
#14
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/28705318/progressive-atrial-conduction-defects-associated-with-bone-malformation-caused-by-a-connexin-45-mutation
#15
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes...
July 18, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28687466/cerebrospinal-fluid-volume-does-not-have-etiological-role-in-the-incidence-of-positional-skull-deformities
#16
Guillaume Captier, Adrien Galeron, Gérard Subsol, Melissa Solinhac, Thomas Roujeau, Nicolas Leboucq, Christian Herlin
BACKGROUND: Positional skull deformities (PSD) are becoming a daily health concern for craniofacial surgeons. Several reports have indicated that cerebrospinal fluid (CSF) space increases on computed tomography (CT) scans of infants suffering from PSD, suggesting a potential causal link. Here, we describe a semi-automatic method to estimate total brain and CSF volumes quantitatively. We tested the potential correlation between total CSF volume and the occurrence of PSD. METHODS: A single-center retrospective study was carried out using 79 CT scans of PSD and 60 CT scans of control subjects...
September 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28667433/craniofacial-features-affecting-mandibular-asymmetries-in-skeletal-class-ii-patients
#17
Guilherme Thiesen, B F Gribel, M P M Freitas, D R Oliver, K B Kim
OBJECTIVES: The aim of this study was to evaluate the characteristics affecting different intensities of mandibular asymmetry in skeletal Class II adults using three-dimensional images. This study is clinically relevant since it allows professionals to evaluate the morphological components related to these deformities and more carefully obtain correct diagnosis and treatment plan for such patients. METHODS: Cone-beam computed tomography data of 120 Class II patients (40 with relative symmetry, 40 with moderate asymmetry, and 40 with severe asymmetry) were imported to SimPlant Ortho Pro(®) 2...
June 30, 2017: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/28665854/morphometric-analysis-of-the-posterior-cranial-fossa-in-syndromic-and-nonsyndromic-craniosynostosis
#18
Thomas Beez, David Koppel, Meharpal Sangra
Posterior cranial fossa (PCF) anatomy can be abnormal in craniosynostosis, and hindbrain herniation may occur. This study analyzed PCF anatomy in single suture and complex craniosynostosis.Children with craniosynostosis and age-matched controls were identified. Cephalic index (CI) for cranial vault and PCF as well as tentorial (TA) and occipital angles (OA) were measured on preoperative imaging.Children with syndromic (N = 6), bicoronal (N = 4), sagittal (N = 12), and metopic synostosis (N = 4) as well as controls (N = 10) were enrolled...
July 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28665841/asymmetric-multisutural-craniosynostosis-an-algorithm-of-early-intervention-to-prevent-evolving-deformity
#19
Michael R Bykowski, Sanjay Naran, Renata Maricevich, Jesse A Goldstein, Joseph E Losee
BACKGROUND: Asymmetric multisutural craniosynostosis (AMC) is characterized by fusion of a midline suture combined with unilateral fusion of at least 1 nonmidline suture. Due to its rarity, complexity, and high rate of reoperation, the purpose of this study is to evaluate outcomes of our staged approach to AMC. METHODS: Patients treated for craniosynostosis between January 2004 and December 2013 were identified retrospectively. Only patients with AMC and a minimum follow-up of 2 years were included...
July 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28654599/predictors-of-autologous-free-fat-graft-retention-in-the-management-of-craniofacial-contour-deformities
#20
Rafael Denadai, Cesar Augusto Raposo-Amaral, Andre Silveira Pinho, Thais Miguel Lameiro, Celso Luiz Buzzo, Cassio Eduardo Raposo-Amaral
BACKGROUND: Autologous free fat graft outcomes are not always predictable, and variables that can potentially influence fat graft retention are still not well understood or investigated. The purposes of this study were to assess fat graft retention in the management of craniofacial contour deformities and to identify possible predictive factors of this retention. METHODS: A prospective analysis was conducted using consecutive patients with unilateral craniofacial contour deformities who underwent autologous free fat grafting between 2012 and 2015...
July 2017: Plastic and Reconstructive Surgery
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