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https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#1
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28222933/photogrammetric-3d-skull-photo-superimposition-a-pilot-study
#2
Valeria Santoro, Sergio Lubelli, Antonio De Donno, Alessio Inchingolo, Fulvio Lavecchia, Francesco Introna
The identification of bodies through the examination of skeletal remains holds a prominent place in the field of forensic investigations. Technological advancements in 3D facial acquisition techniques have led to the proposal of a new body identification technique that involves a combination of craniofacial superimposition and photogrammetry. The aim of this study was to test the method by superimposing various computerized 3D images of skulls onto various photographs of missing people taken while they were still alive in cases when there was a suspicion that the skulls in question belonged to them...
February 13, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28222278/the-enigma-of-traumatic-pseudolipoma-and-traumatic-herniation-of-buccal-fat-pad-a-systematic-review-and-new-classification-system-of-post-traumatic-craniofacial-fatty-masses
#3
Ankeeta Satish Khadilkar, Ashima Goyal, Krishan Gauba
PURPOSE: Intraoral traumatic herniation of the buccal fat pad has been reported using various terms such as traumatic pseudolipoma, traumatic prolapse of buccal fat pad, and traumatic avulsion of buccal fat pad. Because there is no uniformity in nomenclature, this condition needs to be distinguished from other entities such as post-traumatic pseudolipoma and lipoma and pseudoherniation of the buccal fat pad. MATERIALS AND METHODS: A systematic review and thorough search of the literature was planned in online databases such as PubMed, Medline, Scopus, Embase, and Google Scholar...
February 1, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28219124/our-experience-in-using-telehealth-for-paediatric-plastic-surgery-in-western-australia
#4
Debesh Rimal, Ju Hui Huang Fu, David Gillett
BACKGROUND: Western Australia accounts for one-third of Australia's total land mass. Princess Margaret Hospital is the only dedicated plastic surgery tertiary referral centre providing services to over 500 000 children across the state. The aim of this study is to share our experience using telehealth for service provision and delivery of care in a geographically challenging setting. METHODS: A retrospective review was conducted, and data were extracted from patients' notes...
February 20, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28217167/russell-silver-syndrome-associated-with-low-conus-medullaris
#5
Larisa Gabor, Huseyin Canaz, Gokhan Canaz, Nursu Kara, Ibrahim Alatas, Hakan Bozkus
Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217040/multi-species-ontologies-of-the-craniofacial-musculoskeletal-system
#6
Jose L V Mejino, Landon T Detwiler, Timothy C Cox, James F Brinkley
We created the Ontology of Craniofacial Development and Malformation (OCDM) [1] to provide a unifying framework for organizing and integrating craniofacial data ranging from genes to clinical phenotypes from multi-species. Within this framework we focused on spatio-structural representation of anatomical entities related to craniofacial development and malformation, such as craniosynostosis and midface hypoplasia. Animal models are used to support human studies and so we built multi-species ontologies that would allow for cross-species correlation of anatomical information...
August 2016: CEUR Workshop Proceedings
https://www.readbyqxmd.com/read/28216308/craniofacial-implants-at-a-single-centre-2005-2015-retrospective-review-of-451-implants
#7
R Elledge, J Chaggar, N Knapp, T Martin, N White, D Evriviades, S Edmondson, S Parmar
Craniofacial endosseous implants are regularly used to support prostheses in the rehabilitation of complex defects, but reported success rates vary. To review our own clinical practice over 10 years, and particularly to examine the impact of radiotherapy and the timing of placement on the survival of implants, we retrospectively audited the records for all patients who had endosseous implants for prosthetic rehabilitation in our unit between 2005 and 2015. We reviewed 167 records, which gave 451 implants, of which, 222 (49%) were auricular, 98 (22%) nasal, and 131 (29%) orbital...
February 16, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28215996/morphological-and-behavioral-responses-of-zebrafish-after-24h-of-ketamine-embryonic-exposure
#8
Luís M Félix, Cindy Serafim, Maria J Martins, Ana M Valentim, Luís M Antunes, Manuela Matos, Ana M Coimbra
Ketamine, one anesthetic used as an illicit drug, has been detected both in freshwater and marine ecosystems. However, knowledge of its impact on aquatic life is still limited. This study aimed to test its effects in zebrafish embryos by analyzing its time- and dose-dependent developmental toxicity and long-term behavioral changes. The 24h-LC50 was calculated from percent survival using probit analysis. Based on the 24h-LC50 (94.4mgL(-1)), embryos (2hour post-fertilization - hpf) were divided into four groups, including control, and exposed for 24h to ketamine concentrations of 50, 70 or 90mgL(-1)...
February 16, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28215958/characteristics-of-defenestrating-craniofacial-injuries-in-pediatric-patients
#9
Aline Joly, Virginie Pineau, Juliette Montmayeur, Philippe Meyer, Kahina Belhous, Nathalie Boddaert, Arnaud Picard, Natacha Kadlub
No abstract text is available yet for this article.
February 13, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28214635/secondary-craniofacial-sarcomas-following-retinoblastoma-a-systematic-review
#10
REVIEW
Ryuya Yamanaka, Azusa Hayano
OBJECTIVE: We conducted the largest systematic review of individual patient data to characterize secondary craniofacial sarcomas following retinoblastoma. METHODS: We conducted a systemic search of the PubMed databases, and compiled a comprehensive literature review. Student t-tests were used to evaluate differences between variables. Kaplan-Meier analysis was used to estimate survival. Statistical significance was assessed by using a log-rank test. RESULTS: We analyzed 220 cases of secondary craniofacial sarcomas, including 112 osteosarcomas...
February 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28213462/discovery-diagnosis-and-etiology-of-craniofacial-ciliopathies
#11
Elizabeth N Schock, Samantha A Brugmann
Seventy-five percent of congenital disorders present with some form of craniofacial malformation. The frequency and severity of these malformations makes understanding the etiological basis crucial for diagnosis and treatment. A significant link between craniofacial malformations and primary cilia arose several years ago with the determination that ∼30% of ciliopathies could be primarily defined by their craniofacial phenotype. The link between the cilium and the face has proven significant, as several new "craniofacial ciliopathies" have recently been diagnosed...
February 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28212130/periorbital-soft-tissue-anthropometric-analysis-of-young-adults
#12
Turan Ozdemir, Fatma Ezgi Can, Sefa Isiklar, Ilker Ercan, Nedim Simsek Cankur
The authors aim to determine the periorbital soft tissue anthropometric norms for Turkish young adults for right and left eyes using a noninvasive two-dimensional photogrammetric analysis. Anthropometric measurements of the periorbital soft tissue were taken from 172 female and 56 male Turkish adults aged between 18 and 24 years. The periorbital soft tissue profiles (ocular and palpebral) for males and females were digitally analyzed using linear measurements made with standardized photographic records, taken in a natural head position...
February 16, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#13
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211198/safety-of-antifibrinolytics-in-cranial-vault-reconstructive-surgery-a-report-from-the-pediatric-craniofacial-collaborative-group
#14
Susan M Goobie, Franklyn P Cladis, Chris D Glover, Henry Huang, Srijaya K Reddy, Allison M Fernandez, David Zurakowski, Paul A Stricker
BACKGROUND: Antifibrinolytic therapy significantly decreases blood loss and transfusion in pediatric cranial vault reconstructive surgery; however, concern regarding the side effects profile limits clinical use. AIMS: The aim was to utilize the Pediatric Craniofacial Surgery Perioperative Registry database to identify the safety profile of antifibrinolytic therapy for cranial vault reconstructive surgery by reporting the incidence of adverse events as they relate to exposure to tranexamic acid and aminocaproic acid compared to no exposure to antifibrinolytics...
March 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28210411/carotid-cavernous-fistula-as-a-complication-of-panfacial-fracture-case-report-11-years-after-the-surgery
#15
Sylvio Luiz Costa de Moraes, Alexandre Maurity de Paula Afonso, Roberto Gomes Dos Santos, Ricardo Pereira Mattos, Bruno Gomes Duarte
The carotid-cavernous fistula (CCF) is a rare complication in patients victimized by craniofacial trauma. It involves multidisciplinary medical action. Owing to its potential complications, it is essential that maxillofacial surgery and neurosurgery specialists diagnose this condition so that appropriate treatment can be performed. The authors present a report of a case 11 years after the surgery.
March 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28210407/a-single-center-review-of-radiologically-diagnosed-maxillofacial-fractures-etiology-and-distribution
#16
Jordan N Halsey, Ian C Hoppe, Mark S Granick, Edward S Lee
The etiology of fractures of the maxillofacial skeleton varies among studies, with motor vehicle accidents and assaults oftentimes the most common. The number of males outnumbers females throughout most studies. Fractures of the zygoma, orbit, and mandible are usually cited as most common fracture types. This study examines a single center's experience with regards to etiology and distribution of fractures. A retrospective review of all radiologically confirmed facial fractures in a level 1 trauma center in an urban environment was performed for the years 2000 to 2012...
March 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28210405/titanium-clamps-for-a-simple-low-profile-autologous-osteosynthesis-in-the-reconstruction-of-posttraumatic-craniofacial-convexital-skeletal-disruption
#17
Amos Olufemi Adeleye, Toluyemi Adefolarin Malomo
Attempts at reconstruction of posttraumatic craniofacial defects (PTCDs) can be a challenge in low-resource practice areas of the world where the needed biomaterials are logistically beyond reach. A simple low-profile technique of autologous osteosynthesis for PTCD using the titanium clamps is presented in this report. In addition, a 6-year prospective database on a consecutive cohort of patients who underwent this procedure was analyzed for clinical, functional, and aesthetic outcomes, both in-hospital and at midterm follow-up...
March 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28207469/sequence-of-surgical-reconstruction-in-a-child-with-cleft-lip-and-palate-associated-with-congenital-facial-teratomas
#18
Oswaldo J Gómez Díaz, Mario D Cruz Sánchez
We describe a case of left homolateral complete cleft lip/palate associated with a congenital left maxillary teratoma and left orbital teratoma. The patient required step-by-step reconstruction that first included resection of the 2 teratomas in consideration of cleft lip repair, cleft palate repair, and correction of the left periorbital anomalies, which were performed later. After performing all the necessary procedures, complete resection of the tumors and correction of the anomalies associated with the lip, palate, and left orbit were achieved...
February 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28207379/absence-of-fluoride-varnish-related-adverse-events-in-caries-prevention-trials-in-young-children-united-states
#19
Raul I Garcia, Steven E Gregorich, Francisco Ramos-Gomez, Patricia A Braun, Anne Wilson, Judith Albino, Tamanna Tiwari, Maya Harper, Terrence S Batliner, Margaret Rasmussen, Nancy F Cheng, William Santo, Paul L Geltman, Michelle Henshaw, Stuart A Gansky
INTRODUCTION: Fluoride varnish is an effective prevention intervention for caries in young children. Its routine use in clinical care is supported by meta-analyses and recommended by clinical guidelines, including the US Preventive Services Task Force (B rating). This report is the first prospective systematic assessment of adverse events related to fluoride varnish treatment in young children. METHODS: We determined the incidence of adverse events related to fluoride varnish treatment in 3 clinical trials on the prevention of early childhood caries, conducted under the auspices of the Early Childhood Caries Collaborating Centers, an initiative sponsored by the National Institute of Dental and Craniofacial Research...
February 16, 2017: Preventing Chronic Disease
https://www.readbyqxmd.com/read/28202369/histomorhological-and-clinical-evaluation-of-maxillary-alveolar-ridge-reconstruction-after-craniofacial-trauma-by-applying-combination-of-allogeneic-and-autogenous-bone-graft
#20
Francesco Saverio De Ponte, Roberto Falzea, Michele Runci, Enrico Nastro Siniscalchi, Floriana Lauritano, Ennio Bramanti, Gabriele Cervino, Marco Cicciu
A variety of techniques and materials for the rehabilitation and reconstruction of traumatized maxillary ridges prior to dental implants placement have been described in literature. Autogenous bone grafting is considered ideal by many researchers and it still remains the most predictable and documented method. The aim of this report is to underline the effectiveness of using allogeneic bone graft for managing maxillofacial trauma. A case of a 30-year-old male with severely atrophic maxillary ridge as a consequence of complex craniofacial injury is presented here...
January 20, 2017: Chinese Journal of Traumatology, Zhonghua Chuang Shang za Zhi
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