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https://www.readbyqxmd.com/read/28550290/differential-methylation-is-associated-with-non-syndromic-cleft-lip-and-palate-and-contributes-to-penetrance-effects
#1
Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E Moore, Philip Stanier, Maria Rita Passos-Bueno
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28548091/cellular-interplay-via-cytokine-hierarchy-causes-pathological-cardiac-hypertrophy-in-raf1-mutant-noonan-syndrome
#2
Jiani C Yin, Mathew J Platt, Xixi Tian, Xue Wu, Peter H Backx, Jeremy A Simpson, Toshiyuki Araki, Benjamin G Neel
Noonan syndrome (NS) is caused by mutations in RAS/ERK pathway genes, and is characterized by craniofacial, growth, cognitive and cardiac defects. NS patients with kinase-activating RAF1 alleles typically develop pathological left ventricular hypertrophy (LVH), which is reproduced in Raf1(L613V/+) knock-in mice. Here, using inducible Raf1(L613V) expression, we show that LVH results from the interplay of cardiac cell types. Cardiomyocyte Raf1(L613V) enhances Ca(2+) sensitivity and cardiac contractility without causing hypertrophy...
May 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28545565/the-combination-of-nano-calcium-sulfate-platelet-rich-plasma-gel-scaffold-with-bmp2-gene-modified-mesenchymal-stem-cells-promotes-bone-regeneration-in-rat-critical-sized-calvarial-defects
#3
Zunpeng Liu, Xue Yuan, Gabriela Fernandes, Rosemary Dziak, Ciprian N Ionita, Chunyi Li, Changdong Wang, Shuying Yang
BACKGROUND: Mesenchymal stem cells (MSCs) can be differentiated into an osteoblastic lineage in the presence of growth factors (GFs). Platelet-rich plasma (PRP), which can be easily isolated from whole blood, contains a large amount of GFs, and, therefore, promotes bone growth and regeneration. The main goal of this work was to develop and investigate the effect of a new sandwich-like bone scaffold which combines a nano-calcium sulfate (nCS) disc along with PRP fibrin gel (nCS/PRP) with BMP2-modified MSCs on bone repair and regeneration in rat critical-sized calvarial defects...
May 25, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28544880/systems-wide-studies-uncover-commander-a-multiprotein-complex-essential-to-human-development
#4
REVIEW
Anna L Mallam, Edward M Marcotte
Recent mass spectrometry maps of the human interactome independently support the existence of a large multiprotein complex, dubbed "Commander." Broadly conserved across animals and ubiquitously expressed in nearly every human cell type examined thus far, Commander likely plays a fundamental cellular function, akin to other ubiquitous machines involved in expression, proteostasis, and trafficking. Experiments on individual subunits support roles in endosomal protein sorting, including the trafficking of Notch proteins, copper transporters, and lipoprotein receptors...
May 24, 2017: Cell Systems
https://www.readbyqxmd.com/read/28541185/superimposition-of-cone-beam-computed-tomography-images-by-joint-embedding
#5
Yuru Pei, Gengyu Ma, Gui Chen, Xiaoyun Zhang, Tianmin Xu, Hongbin Zha
OBJECTIVE: The superimposition of cone-beam computed tomography (CBCT) images is an essential step to evaluate shape variations of pre and postorthodontic operations due to pose variations and the bony growth. The aim of this paper is to present and discuss the latest accomplishments in voxel-based craniofacial CBCT superimpositions along with structure discriminations. METHODS: We propose a CBCT superimposition method based on joint embedding of subsets extracted from CBCT images...
June 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28540633/olfactory-neuroblastoma-a-single-center-experience
#6
Marton König, Terje Osnes, Peter Jebsen, Jan Folkvard Evensen, Torstein R Meling
Olfactory neuroblastoma (ONB) is a potentially curable disease, despite being an aggressive malignancy with a poor natural history. Our goal was to evaluate management outcomes for patients with ONB treated at our institution. Our prospective database for brain tumors and the pathology registry of head and neck cancers at Oslo University Hospital were searched to identify all patients treated for ONB between 1998 and 2016. Variables extracted from these databases, supplemented by retrospective chart reviews, underwent thorough analysis...
May 25, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28538575/the-management-of-trigonoscaphocephaly-as-a-result-of-combined-metopic-and-sagittal-synostosis
#7
Thomas D Dobbs, Omer Salahuddin, Jayaratnam Jayamohan, Peter Richards, Shailendra Magdum, Steven A Wall, David Johnson
BACKGROUND: The combination of sagittal and metopic synostosis is rare, resulting in a scaphocephalic shape, but with an absence of frontal bossing and therefore varying degrees of trigonocephaly and occipital prominence. Treatment is primarily surgical, with a combination of procedures to address both the scaphocephaly and trigonocephaly required involving multiple operations. The authors discuss their experience of treating combined trigonoscaphocephaly in a single-stage procedure and propose a management strategy based on the severity of the presenting deformity...
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28538065/squamosal-suture-synostosis-incidence-associations-and-implications-for-treatment
#8
Blake D Murphy, Navid Ajabshir, Nolan Altman, S Anthony Wolfe, Chad Perlyn
Squamosal suture craniosynostosis is thought to be a relatively rare entity. In the authors' experience, it is underreported in imaging examinations and the existing literature. The authors sought to determine the incidence of squamosal synostosis, whether it is increasing in frequency, and its relationship with synostosis of the major calvarial sutures.Patients undergoing computed tomography imaging for suspected craniosynostosis over a 15-year period were reviewed by a plastic surgeon and pediatric neuroradiologist...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28538062/the-development-of-surgery-of-the-craniofacial-skeleton-a-march-from-south-to-north-or-caudad-to-cephalad
#9
Beth Aviva Preminger, Joseph G McCarthy
No abstract text is available yet for this article.
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#10
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28536534/a-bio-realistic-finite-element-model-to-evaluate-the-effect-of-masticatory-loadings-on-mouse-mandible-related-tissues
#11
Alexander Tsouknidas, Lucia Jimenez-Rojo, Evangelos Karatsis, Nikolaos Michailidis, Thimios A Mitsiadis
Mice are arguably the dominant model organisms for studies investigating the effect of genetic traits on the pathways to mammalian skull and teeth development, thus being integral in exploring craniofacial and dental evolution. The aim of this study is to analyse the functional significance of masticatory loads on the mouse mandible and identify critical stress accumulations that could trigger phenotypic and/or growth alterations in mandible-related structures. To achieve this, a 3D model of mouse skulls was reconstructed based on Micro Computed Tomography measurements...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28534456/effects-of-folic-acid-fortification-on-orofacial-clefts-prevalence-a-meta-analysis
#12
Natalia Millacura, Rosa Pardo, Lucia Cifuentes, José Suazo
OBJECTIVE: Orofacial clefts (OFC) are the most prevalent craniofacial birth defect. Folic acid (FA) supplementation has been demonstrated as an effective intervention to reduce risk of OFC occurrence. However, the effect of mandatory FA fortification of wheat and/or maize flour on OFC prevalence has shown controversial results among countries adopting this policy. Thus, we performed a meta-analysis to synthesize the available evidence evaluating the global impact of this mandatory policy on OFC occurrence...
May 23, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/28533010/initial-investigation-of-the-corrosion-stability-of-craniofacial-implants
#13
Thamara Beline, Aljomar José Vechiato Filho, Alvin G Wee, Cortino Sukotjo, Daniela Micheline Dos Santos, Thaís Bianca Brandão, Valentim Adelino Ricardo Barão
STATEMENT OF PROBLEM: Although craniofacial implants have been used for retention of facial prostheses, failures are common. Titanium undergoes corrosion in the oral cavity, but the corrosion of craniofacial implants requires evaluation. PURPOSE: The purpose of this in vitro study was to investigate the corrosion stability of commercially pure titanium (CP Ti) exposed to simulated human perspiration at 2 different pH levels (5.5 and 8). MATERIAL AND METHODS: Fifteen titanium disks were divided into 3 groups (n=5 per group)...
May 20, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28532135/anthropometric-analysis-of-cephalofacial-dimensions-in-kerman-iran
#14
Fatemeh Pouya, Seyed Hassan Eftekhar-Vaghefi, Parvin Salehinejad
The human body dimensions are affected by ecological, biological, geographical, racial, sex, and age factors. Craniofacial measurements can be considered to be one of the important tools for determination of the morphological characteristics of the head and face. In this study, which was conducted on Persian adolescents living in Kerman/Iran, different forms of head and face were determined for using in various aspects of medicine. The study was conducted on 732 participants including 366 males and 366 females in the age of 18-20-year-old...
April 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28530322/-oro-dento-facial-manifestations-in-patients-with-familial-dysautonomia
#15
REVIEW
Eliyahu Mass
The oro-dento-facial features and dysfunctions of children with hereditary sensory and autonomic neuropathy type III (HSAN III), known as familial dysautonomia (FD) or Riley-Day syndrome, were first described in the scientific literature in 1949. They include: dental trauma, dental and soft tissue selfmutilation, normal dental age, normal sequence and timing of eruption and exfoliation of teeth, smaller tooth size, different and disproportional tooth components, normal alveolar bone height, small jaws, mild crowding and malocclusion...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28528991/craniofacial-linear-scleroderma-associated-with-retinal-telangiectasia-and-exudative-retinal-detachment
#16
Eva Lenassi, Grace Vassallo, Elias Kehdi, Alice S Chieng, Jane L Ashworth
No abstract text is available yet for this article.
May 18, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28527082/usefulness-of-an-occlusal-device-in-the-treatment-of-medication-overuse-headache-and-persistent-idiopathic-facial-pain-preliminary-results
#17
H A Didier, M Curone, V Tullo, A H Didier, R Cornalba, A B Giannì, G Bussone
There is a debate in literature about the therapeutic usefulness of oral devices in patients suffering from Medication Overuse Headache (MOH) or in patients suffering from Persistent Idiopathic Facial Pain (PIFP). From the case histories of 3356 patients, referred to us with a diagnosis of chronic craniofacial pain for assessment of the eventual application of an occlusal device to correct an impaired neuromuscular relationship between the mandible and the maxilla, we selected, following the criteria of the International Classification of Headache Disorders (ICHD-3beta), two groups of patients suffering from MOH and PIFP...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28526461/-anesthesia-in-a-child-operated-for-cleft-lip-associated-with-patau-s-syndrome
#18
Manoj Kamal, Don Varghese, Jeet Bhagde, Geeta Singariya, Annie Miju Simon, Amar Singh
Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age.
May 16, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28526292/australopithecus-sediba-and-the-emergence-of-homo-questionable-evidence-from-the-cranium-of-the-juvenile-holotype-mh-1
#19
William H Kimbel, Yoel Rak
Malapa Hominin (MH) 1, an immature individual whose second permanent molars had recently reached occlusion at the time of death, is the holotype of Australopithecus sediba, a 2-myr-old South African taxon that has been hypothesized to link phylogenetically australopith-grade hominins to the Homo clade. Given the existence of 2.8 myr-old fossils of Homo in eastern Africa, this hypothesis implies a ghost lineage spanning at least 800 kyr. An alternative hypothesis posits a unique relationship between A. sediba and Australopithecus africanus, which predates the Malapa hominins in southern Africa and whose phylogenetic relationships remain ambiguous...
June 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28526003/the-basic-research-factors-questionnaire-for-studying-early-childhood-caries
#20
Judith Albino, Tamanna Tiwari, Stuart A Gansky, Michelle M Henshaw, Judith C Barker, Angela G Brega, Steven E Gregorich, Brenda Heaton, Terrence S Batliner, Belinda Borrelli, Paul Geltman, Nancy R Kressin, Jane A Weintraub, Tracy L Finlayson, Raul I Garcia
BACKGROUND: We describe development of the Early Childhood Caries (ECC) Basic Research Factors Questionnaire (BRFQ), a battery of measures assessing common potential predictors, mediators, and moderators of ECC. Individual-, family-, and community-level factors that are linked to oral health outcomes across at-risk populations are included. Developing standard measures of factors implicated in ECC has the potential to enhance our ability to understand mechanisms underlying successful prevention and to develop more effective interventions...
May 19, 2017: BMC Oral Health
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