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Facial deformity

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https://www.readbyqxmd.com/read/28330575/clinical-management-of-the-homozygous-%C3%AE-thalassemia-with-unusual-mandibular-manifestation-of-hematopoiesis
#1
J A Ruiz-Roca, R E Oñate-Sánchez, I Urrutia-Rodríguez, A Martínez-Izquierdo, D Mengual-Pujante, F J Rodríguez-Lozano
Alpha (α)-thalassemias are the most common genetic disorder of hemoglobin (Hb) synthesis, affecting up to 5% of the world's population. These congenital hemolytic anemias induce extramedullary hematopoiesis, including the liver, spleen, sinuses, and the diploic spaces of the skull. Oral health problems in patients with thalassemias are mostly related to a varied degree of facial deformities, malocclusions, and/or dental arch dimensions. We present a case with a 49-year-old man, diagnosed with homozygous α thalassemia that came to the Faculty of Dentistry at the University of Murcia for a dental treatment...
February 2017: J Stomatol Oral Maxillofac Surg
https://www.readbyqxmd.com/read/28329999/bilateral-cystic-coloboma-with-microphtalmos-and-eyelid-agenesis-us-and-mri-findings
#2
Youssef Omor, Benjamin Dhaene, Veronique Toppet, Marie Cassart, Patrice Jissendi-Tchofo
INTRODUCTION: The combination of bilateral microphthalmos, cystic coloboma and eyelid agenesis is rare. The definite diagnosis of this malformation is established by fundoscopic examination and confirmed by imaging modalities such as ultrasonography (US) and magnetic resonance imaging (MRI). This disorder may be associated with specific chromosomal abnormalities. CASE REPORT: A 1-week-old male newborn was referred for bilateral eyelid agenesis. He was born at term by caesarean for foetal distress, after an uneventful gestation...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#3
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326341/cdc42-is-crucial-for-facial-and-palatal-formation-during-craniofacial-development
#4
Mutsuko Oshima-Nakayama, Atsushi Yamada, Tamaki Kurosawa, Ryo Aizawa, Dai Suzuki, Yoshiro Saito, Hidetoshi Kassai, Yuki Sato, Matsuo Yamamoto, Tatsuo Shirota, Atsu Aiba, Koutaro Maki, Ryutaro Kamijo
Craniofacial deformities with multifactorial etiologies, such as cleft palate and facial dysmorphism, represent some of the most frequent congenital birth defects seen in humans. Their pathogeneses are often related to cranial neural crest (CNC) cells. During CNC cell migration, changes in cell shape and formation, as well as maintenance of subcellular structures, such as filopodia and lamellipodia, are dependent on the complex functions of Rho family small GTPases, which are regulators of actin cytoskeletal organization...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28299270/6-0-nylon-versus-6-0-vicryl-rapide-in-chieloplasty
#5
J K Dayashankara Rao, Payal Luthra, Varun Arya, Vijay Siwach, Anil K Sheorain, Megha Gupta
CONTEXT: Facial cosmetic result is one of the most concerning issues for the parents who get their children operated for cleft lip. Moreover, the discomfort associated with the suture removal encourages one to use any new technology that may replace the need for suture placement. The type of suture material used in surgery has been a long-standing debate among surgeons. In this study, we compared rapidly absorbable suture material (Vicryl Rapide™) with nonabsorbable suture material (nylon)...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28289810/non-odontogenic-tumors-of-the-facial-bones-in-children-and-adolescents-role-of-multiparametric-imaging
#6
REVIEW
Minerva Becker, Salvatore Stefanelli, Anne-Laure Rougemont, Pierre Alexandre Poletti, Laura Merlini
Tumors of the pediatric facial skeleton represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation, and long-term disfigurement. Their treatment often requires a multidisciplinary approach, and radiologists play a pivotal role in the diagnosis and management of these lesions. Although rare, pediatric tumors arising in the facial bones comprise a wide spectrum of benign and malignant lesions of osteogenic, fibrogenic, hematopoietic, neurogenic, or epithelial origin...
March 13, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28287946/mr-imaging-of-the-temporomandibular-joint-in-juvenile-idiopathic-arthritis-technique-and-findings
#7
María Navallas, Emilio J Inarejos, Estíbaliz Iglesias, Gui Youn Cho Lee, Natalia Rodríguez, Jordi Antón
The term juvenile idiopathic arthritis (JIA) encompasses a group of arthritides of unknown cause that begin before 16 years of age and last for at least 6 weeks. Temporomandibular joint (TMJ) involvement has been described in up to 87% of children with JIA and has been associated with all JIA subtypes. TMJ involvement is difficult to detect clinically. In one study, 71% of JIA patients with active TMJ synovitis were asymptomatic and 63% had normal physical examination results. Moreover, the main growth center of the mandible is located in the condyle, separated from the joint space by only a thin layer of fibrocartilage...
March 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28286399/application-of-4-meta-adhesive-resin-to-the-occlusal-surface-during-surgery-facilitates-postoperative-occlusal-management
#8
Aoki Noriaki, Baba Junichi, Iwai Toshinori, Tohnai Iwai
PURPOSE: Orthognathic surgery is generally used to correct facial deformities and establish functional occlusion. Preoperative orthodontic treatment is important for stabilizing and establishing the postoperative occlusion. However, sufficient preoperative surgical orthodontic treatment might be sometimes difficult in patients with an abnormally shaped maxilla or mandible or severe jaw deformity. METHODS: We performed this technique over 10 patients with jaw deformities after insufficient presurgical orthodontic treatment...
March 2017: Journal of Maxillofacial and Oral Surgery
https://www.readbyqxmd.com/read/28281597/would-the-introduction-of-the-index-of-orthognathic-functional-treatment-need-ioftn-affect-referrals-and-acceptance-of-people-for-orthognathic-treatment
#9
S Barber, Z Jawad, T Hodge, C Bates
Introduction The Index of Orthognathic Functional Treatment Need (IOFTN) was developed to measure functional difficulties arising from malocclusions related to facial deformity. The IOFTN is not currently being used to determine suitability for orthognathic treatment, however, it is a useful aid for assessing and referring patients and takes into account functional and facial appearance. This paper aims to evaluate the potential impact of introduction of the IOFTN on the future provision of orthognathic services...
March 10, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28280662/avoiding-facial-incisions-with-midface-free-tissue-transfer
#10
Mark W Stalder, Michael Sosin, Leo J Urbinelli, James L Mayo, Amir H Dorafshar, Hugo St Hilaire, Daniel E Borsuk, Eduardo D Rodriguez
BACKGROUND: We have adopted an intraoral microsurgical anastomosis to the facial vessels to eliminate the need for any visible facial incisions. METHODS: Cadaveric dissection was used to demonstrate accessibility of the facial artery and vein through an intraoral approach. Additionally, 5 patients underwent free tissue transfer for reconstruction of major defects of the midface through an intraoral, transmucosal approach, obviating the need for visible skin incisions...
February 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28259786/new-methodology-for-mechanical-characterization-of-human-superficial-facial-tissue-anisotropic-behaviour-in-vivo
#11
C Then, B Stassen, K Depta, G Silber
Mechanical characterization of human superficial facial tissue has important applications in biomedical science, computer assisted forensics, graphics, and consumer goods development. Specifically, the latter may include facial hair removal devices. Predictive accuracy of numerical models and their ability to elucidate biomechanically relevant questions depends on the acquisition of experimental data and mechanical tissue behavior representation. Anisotropic viscoelastic behavioral characterization of human facial tissue, deformed in vivo with finite strain, however, is sparse...
February 21, 2017: Journal of the Mechanical Behavior of Biomedical Materials
https://www.readbyqxmd.com/read/28258274/early-orthognathic-surgery-a-review
#12
Saleh Alwadei
Management of growing patients with severe developmental jaw abnormalities can be very difficult. Early surgical intervention may be warranted in situations where function (e.g., mastication, swallowing, breathing, or speech) and/or psychological well-being could be negatively affected. Many surgeons and orthodontists are reluctant to recommend a surgical treatment option for growing patients with severe developmental jaw abnormalities because of their age. Specific surgical procedures can be performed during growth to correct developmental jaw abnormalities with predictable results...
March 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28255973/chondromyxoid-fibroma-of-the-skull-base-our-experience-with-an-elusive-disease
#13
Giancarlo D'Andrea, Alessandro Pesce, Guido Trasimeni, Venceslao Wierzbicki, Veronica Picotti, Alessandra Serraino, Riccardo Caruso
Chondromyxoid fibroma (CMF) is an extremely rare lesion of the skull base. This histologic type typically predilects metaphysis of the long bones. It is locally invasive/infiltrative, and this tendency is more concerning in the skull base, where a radical resection is often technically impossible because of the presence of vital neurovascular structures. We present a case of a 19-year-old woman who presented with a sudden onset of right facial weakness, progressively worsening to a severe disfiguring motor weakness...
March 2, 2017: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/28252516/decellularization-of-the-porcine-ear-generates-a-biocompatible-nonimmunogenic-extracellular-matrix-platform-for-face-subunit-bioengineering
#14
Jérôme Duisit, Giuseppe Orlando, Donovan Debluts, Louis Maistriaux, Daela Xhema, Yann-Alex J de Bisthoven, Cesare Galli, Andrea Peloso, Catherine Behets, Benoît Lengelé, Pierre Gianello
OBJECTIVE: The purpose of this study was to assess whether perfusion-decellularization technology could be applied to facial grafts. BACKGROUND: Facial allotransplantation remains an experimental procedure. Regenerative medicine techniques allow fabrication of transplantable organs from an individual's own cells, which are seeded into extracellular matrix (ECM) scaffolds from animal or human organs. Therefore, we hypothesized that ECM scaffolds also can be created from facial subunits...
March 1, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28251330/oculo-auriculo-vertebral-spectrum-going-beyond-the-first-and-second-pharyngeal-arch-involvement
#15
Brotto Davide, Manara Renzo, Ghiselli Sara, Lovo Elisa, Mardari Rodica, Toldo Irene, Castiglione Alessandro, Schifano Giovanni, Stritoni Valentina, Bovo Roberto, Trevisi Patrizia, Martini Alessandro
INTRODUCTION: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVS patients. METHODS: Thirty-five OAVS patients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome)...
March 1, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28244901/new-classification-system-for-tear-trough-deformity
#16
Mohammed G Turkmani
BACKGROUND: Tear trough deformities (TTD) refer to a set of conditions leading to different shapes in the junction between the lower eyelid and the cheek. Tear trough deformity is a major aesthetic concern for a lot of individuals seeking periorbital rejuvenation and is one of the most discussed landmarks in facial aesthetic surgery. OBJECTIVE: To describe a new morphologically related classification system, providing an objective means to evaluating the deformity...
February 27, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28226370/osseous-and-cartilaginous-nasal-reconstruction
#17
Samuel Hahn
The nose is a complex, three-dimensional structure that is supported by a framework of osseous and cartilaginous structures. Disruption of this framework can result in nasal deformity and functional deficits. Nasal reconstruction requires restoration of the osseous and cartilaginous framework. This requires careful preoperative assessment of the nasal defect and understanding the nasal and facial aesthetics that are supported by the osseous and cartilaginous support structures. Structural grafts can be classified as restorative, supportive, or contouring...
February 2017: Facial Plastic Surgery: FPS
https://www.readbyqxmd.com/read/28222893/reconstruction-of-midface-defect-from-idiopathic-destructive-process-using-medpor-implant
#18
Joel Franco, Michael S Harris, Dominic Vernon, Taha Z Shipchandler
IMPORTANCE: Reconstruction of the midface remains a challenging task for even the most experienced surgeon, with a host of reconstructive options including free tissue transfer, allografts, or prosthetic implants. Presented here is a case of idiopathic bony destruction of the right midface in a 19year old female, creating a unique defect requiring repair. OBJECTIVE: Demonstrate a unique case of severe maxillary degeneration and discuss the associated reconstructive challenges and final repair with a prosthetic implant...
January 18, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28215817/free-dermal-fat-graft-reconstruction-of-the-head-and-neck-an-alternate-reconstructive-option
#19
Adam Honeybrook, Sanjay M Athavale, Sanjeet V Rangarajan, Sarah L Rohde, James L Netterville
OBJECTIVES: Ablative procedures of the head and neck often result in significant facial and cervical irregularities and cosmetic asymmetry. The deformity resulting from ablative procedures of the head and neck is a significant source of cosmetic morbidity and postoperative dissatisfaction. Reconstruction of post-ablative defects in the head and neck can employ a broad range of techniques, ranging from primary closure to free tissue transfer. The free dermal fat graft (FDFG) is one such option and has been used to repair volume defects of varying sizes after common head and neck procedures such as parotidectomy...
January 27, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28192771/miescher-s-cheilitis-surgical-management-and-long-term-outcome-of-an-extremely-severe-case
#20
Alessandro Innocenti, Marco Innocenti, Cecilia Taverna, Dario Melita, Francesco Mori, Francesco Ciancio, Vincenzo De Giorgi, Paola Parronchi, Alessandra Vultaggio, Andrea Matucci
INTRODUCTION: Miescher's cheilitis is clinically characterized by persistent swelling of the lip(s). Its pathogenesis is still unknown. Histopathologically is characterized by sub-epithelial edema, increased number of dilated lymphatic vessels and an inflammatory infiltrate and/or non-caseating/non- necrotic granulomas. Even if the disorder must be controlled by medical therapy, surgery may be required to treat most severe cases. PRESENTATION OF THE CASE: We report a 30-year-old man who presented a persistent swelling of both lips since 8 years, previously treated with intralesional steroid and immunosuppressive therapy...
January 30, 2017: International Journal of Surgery Case Reports
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