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Facial deformity

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https://www.readbyqxmd.com/read/28514307/exome-sequencing-identifies-a-de-novo-mutation-of-ctnnb1-gene-in-a-patient-mainly-presented-with-retinal-detachment-lens-and-vitreous-opacities-microcephaly-and-developmental-delay-case-report-and-literature-review
#1
Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Jian Wang
RATIONALE: The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de novo, heterozygous, loss-of-function mutations of the CTNNB1 gene were found that partially explain intellectual disability in some patients. Other major clinical symptoms in these patients included microcephaly, abnormal facial features, motor delays, speech impairments, and deformities of the hands and feet...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28509671/complications-in-facial-mohs-defect-reconstruction
#2
Angelique M Berens, Sarah R Akkina, Sapna A Patel
PURPOSE OF REVIEW: To review the recent literature in regards to complications after reconstruction of Mohs defects, outline common pitfalls and to discuss the literature on avoiding complications as outlined per aesthetic subunit. RECENT FINDINGS: Complications in facial Mohs reconstruction commonly consist of infection, wound necrosis and dehiscence, hematoma and suboptimal scarring. However, site-specific complications such as hairline or eyebrow distortion, eyelid retraction or ectropion, nasal contour abnormality, alar retraction, nasal valve compromise, significant facial asymmetry or even oral incompetence must also be considered...
May 13, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28509670/pediatric-nasal-surgery-timing-and-technique
#3
Celeste C Gary
PURPOSE OF REVIEW: Timing of pediatric nasal surgery has always been a controversial topic. Concern over disrupting growing parts of the face and causing permanent facial deformity has led to a primarily conservative approach. Many surgeons feel that it is prudent to wait until the patient has completed nasal growth after puberty to pursue nasal surgery. RECENT FINDINGS: Recently, this attitude has been challenged with evidence that not only is nasal surgery in the pediatric age group not a detriment to facial growth, but failure to correct significant nasal deformity may actually cause dysmorphic facial growth secondary to obligate mouth breathing...
May 13, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28508263/new-insights-into-the-anatomy-of-the-midface-musculature-and-its-implications-on-the-nasolabial-fold
#4
Chelsea C Snider, Ashley N Amalfi, Lauren E Hutchinson, Nicole Z Sommer
BACKGROUND: The prominent nasolabial fold is a distinct feature of the aging midface. As minimally invasive procedures have become mainstream, chemodenervation is a preferred method for treating dynamic facial rhytids. We therefore sought to identify relevant nasolabial fold and midfacial muscular anatomy to determine the ideal location of neuromodulation to improve the aesthetics of the midface and nasolabial fold without altering the upper lip and smile. METHODS: Twelve hemifacial cadaveric dissections were performed to identify midface muscle origin, insertion, width, vector of pull, and neighboring structures...
May 15, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28498505/autosomal-dominant-frontometaphyseal-dysplasia-delineation-of-the-clinical-phenotype
#5
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Lesley C Adés, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Christa M de Geus, Hans-Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C M Hennekam, Chong A Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, David Sillence, Andrea Superti-Furga, Hermine E Veenstra-Knol, Dagmar Wieczorek, Louise C Wilson, David M Markie, Stephen P Robertson
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD. In this study, a cohort of 20 individuals with AD-FMD is clinically evaluated...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28498488/slotted-labyrinthotomy-approach-with-customized-electrode-for-patients-with-common-cavity-deformity
#6
Xingmei Wei, Yongxin Li, Qian-Jie Fu, Yue Gong, Biao Chen, Jingyuan Chen, Ying Shi, Qiaotong Su, Danmo Cui, Ting Liu
OBJECTIVES/HYPOTHESIS: Cochlear implantation for patients with common cavity deformity (CCD) can be difficult, with a higher incidence of intra- and postoperative complications; outcomes with CCD patients are also highly variable. In this study, surgical time was compared between the traditional facial recess approach (TFRA) and the transmastoid slotted labyrinthotomy approach (TSLA). Audiological outcomes and the benefit of using customized electrode arrays for CCD patients are also discussed...
May 12, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28498206/allograft-dermal-matrix-for-restoration-of-facial-contour-deformities
#7
Wei-Liang Chen, Zhuo-Shan Huang, Juan-Kun Liao, Rui Chen
No abstract text is available yet for this article.
May 10, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28494137/acute-radiology-rarely-confirms-sinus-disease-in-suspected-recurrent-acute-rhinosinusitis
#8
Henry P Barham, Alexander S Zhang, Jenna M Christensen, Raymond Sacks, Richard J Harvey
BACKGROUND: Episodic or recurrent sinonasal symptoms are often suspected as "sinus" in origin. With normal sinus radiology between events, the diagnosis of recurrent acute rhinosinusitis (RecARS) is made. However, other conditions can produce episodic symptoms. In this study we analyze acutely performed computed tomography (CT) in a population with suspected or self-diagnosed "sinus" disease. METHODS: Patients referred to a tertiary clinic for suspected RecARS were assessed...
May 11, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28476314/the-edinburgh-modification-of-the-minimal-access-zygomatic-osteotomy-used-for-the-correction-of-zygomatic-orbital-hypoplasia
#9
J N Philip, D F Campbell
Zygomatic hypoplasia can be an exceedingly difficult proposition for the surgeon treating facial deformity. The classical approach would be a coronal access, which is time-consuming, leaves a long scar on the scalp that shows in patients with balding patterns, and carries the risk of permanent facial weakness. The Edinburgh technique presents a minimal access approach to the zygomatic osteotomy. This is performed through local incisions and a bone cut made using hand-held diamond-coated wire that mobilizes the entire zygoma...
May 2, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28474068/-fitting-of-the-reconstructed-craniofacial-hard-and-soft-tissues-based-on-2-d-digital-radiographs
#10
Yao-Pu Feng, Min Qiao, Hong Zhou, Yan-Ning Zhang, Xin-Qin Si
PURPOSE: In this study, we reconstructed the craniofacial hard and soft tissues based on the data from digital cephalometric radiographs and laser scanning. The effective fitting of the craniofacial hard and soft tissues was performed in order to increase the level of orthognathic diagnosis and treatment, and promote the communication between doctors and patients. METHODS: A small lead point was put on the face of a volunteer and frontal and lateral digital cephalometric radiographs were taken...
February 2017: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
https://www.readbyqxmd.com/read/28468147/a-surgical-technique-for-management-of-the-metopic-suture-in-syndromic-craniosynostosis
#11
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/28457727/-orbitofrontal-bone-reconstruction-with-cutting-guides
#12
M Atanasiu, A Paré, A Joly, D Goga, B Laure
INTRODUCTION: Reconstruction of craniofacial defects due to traumatic injuries is a challenge for a reconstructive surgeon, given the functional impact, the aesthetic impact and the geometric complexity of the craniofacial skeleton. The use of cutting and repositioning guides enables a new approach from the craniofacial reconstruction with bone grafts on measure. We are presented to illustrate this technique the case of a patient. OBSERVATION: The patient was 50 years old, he presented a traumatic facial sequelar: a left frontal craniofacial deformation, an enlarged left orbit with enophthalmos and valgus left zygoma...
April 27, 2017: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/28454037/agricultural-expansion-as-risk-to-endangered-wildlife-pesticide-exposure-in-wild-chimpanzees-and-baboons-displaying-facial-dysplasia
#13
Sabrina Krief, Philippe Berny, Francis Gumisiriza, Régine Gross, Barbara Demeneix, Jean Baptiste Fini, Colin A Chapman, Lauren J Chapman, Andrew Seguya, John Wasswa
Prenatal exposure to environmental endocrine disruptors can affect development and induce irreversible abnormalities in both humans and wildlife. The northern part of Kibale National Park, a mid-altitude rainforest in western Uganda, is largely surrounded by industrial tea plantations and wildlife using this area (Sebitoli) must cope with proximity to human populations and their activities. The chimpanzees and baboons in this area raid crops (primarily maize) in neighboring gardens. Sixteen young individuals of the 66 chimpanzees monitored (25%) exhibit abnormalities including reduced nostrils, cleft lip, limb deformities, reproductive problems and hypopigmentation...
April 25, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28438598/effectiveness-of-corticoid-administration-in-orthognathic-surgery-for-edema-and-neurosensorial-disturbance-a-systematic-literature-review
#14
REVIEW
Valthierre Nunes de Lima, Cleidiel Augusto Aparecido Lemos, Leonardo Perez Faverani, Joel Ferreira Santiago Júnior, Eduardo Piza Pellizzer
PURPOSE: The aim of this systematic review was to evaluate the effect of corticosteroid (CS) administration on edema and neural regeneration in orthognathic surgery. MATERIALS AND METHODS: A systematic literature search was conducted using the PubMed (Medline), Cochrane Library, and Scopus databases. The PICO approach was used, in which patients with skeletal dentofacial deformity composed the population; uni- or bimaxillary orthognathic surgery composed the intervention; administration versus no administration of CSs composed the comparison; and decrease in postoperative edema and neurosensory disorders composed the outcome...
March 31, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28438031/mri-based-finite-element-modeling-of-facial-mimics-a-case-study-on-the-paired-zygomaticus-major-muscles
#15
Ang-Xiao Fan, Stéphanie Dakpé, Tien Tuan Dao, Philippe Pouletaut, Mohamed Rachik, Marie Christine Ho Ba Tho
Finite element simulation of facial mimics provides objective indicators about soft tissue functions for improving diagnosis, treatment and follow-up of facial disorders. There is a lack of in vivo experimental data for model development and validation. In this study, the contribution of the paired Zygomaticus Major (ZM) muscle contraction on the facial mimics was investigated using in vivo experimental data derived from MRI. Maximal relative differences of 7.7% and 37% were noted between MRI-based measurements and numerical outcomes for ZM and skin deformation behaviors respectively...
April 24, 2017: Computer Methods in Biomechanics and Biomedical Engineering
https://www.readbyqxmd.com/read/28423221/facial-asymmetry-in-head-and-neck-rhabdomyosarcoma-survivors
#16
Reineke A Schoot, Marinka L F Hol, Johannes H M Merks, Michael Suttie, Olga Slater, Marinde van Lennep, Saskia M J Hopman, David Dunaway, Jonathan Syme-Grant, Ludi E Smeele, Koos H Zwinderman, Huib N Caron, Peter Hammond
INTRODUCTION: Radiotherapy is essential for achieving and maintaining local control in head and neck rhabdomyosarcoma (HNRMS) patients. However, radiotherapy may cause outgrowth disturbances of facial bone and soft tissue, resulting in facial asymmetry. The aim of this study was to develop a method to visualize and measure facial asymmetry in HNRMS survivors using three-dimensional (3D) imaging techniques. METHODS: Facial deformity was evaluated in a multidisciplinary clinical assessment of 75 HNRMS survivors, treated with external beam radiotherapy (EBRT, n = 26) or Ablative surgery, MOulage brachytherapy, and REconstruction (AMORE, n = 49)...
April 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28414291/defects-in-dna-replication-hit-nk-cells-and-neutrophils
#17
Klaus Ley
Patients who present with unique immunological phenotypes provide an opportunity to better understand defect-driving mutations. In this issue of the JCI, Cottineau and colleagues characterize 5 individuals who exhibited growth restriction, facial deformities, and a history of bacterial and viral infection. Further characterization revealed that these patients were neutropenic and NK cell deficient. These phenotypes were unexpectedly linked to mutations in the gene encoding a subunit of the Go-Ichi-Ni-San (GINS) complex, which is essential for DNA replication prior to cell division...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28413599/rare-features-associated-with-mobius-syndrome-report-of-two-cases
#18
Rumela Ghosh, Vikram Shetty, Shruthi Hegde, G Subhas Babu, Vidya Ajila, Nanda Kishore P, Mithula Nair
Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28409207/the-precise-repositioning-instrument-for-genioplasty-and-a-three-dimensional-printing-technique-for-treatment-of-complex-facial-asymmetry
#19
Lin Wang, Dan Tian, Xiumei Sun, Yanju Xiao, Li Chen, Guomin Wu
BACKGROUND: Facial asymmetry is very common in maxillofacial deformities. It is difficult to achieve accurate reconstruction. With the help of 3D printing models and surgical templates, the osteotomy line and the amount of bone grinding can be accurate. Also, by means of the precise repositioning instrument, the repositioning of genioplasty can be accurate and quick. In this study, we present a three-dimensional printing technique and the precise repositioning instrument to guide the osteotomy and repositioning, and illustrate their feasibility and validity...
April 13, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28402573/humor-drawings-evoked-temporal-and-spectral-eeg-processes
#20
Regina W Y Wang, Hsien-Chu Kuo, Shang-Wen Chuang
The study aimed to explore the humor processing elicited through the manipulation of artistic drawings. Using the Comprehension-Elaboration Theory of humor as the main research background, the experiment manipulated the head portraits of celebrities based on the independent variables of facial deformation (large/small) and addition of affective features (positive/negative). A 64-channel electroencephalography was recorded in 30 participants while viewing the incongruous drawings of celebrities. The electroencephalography temporal and spectral responses were measured during the three stages of humor which included incongruity detection, incongruity comprehension and elaboration of humor...
April 11, 2017: Social Cognitive and Affective Neuroscience
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