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Dental genetics

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https://www.readbyqxmd.com/read/29782695/dual-ag-zno-decorated-micro-nanoporous-sulfonated-polyetheretherketone-with-superior-antibacterial-capability-and-biocompatibility-via-layer-by-layer-self-assembly-strategy
#1
Yi Deng, Lei Yang, Xiaobing Huang, Junhong Chen, Xiuyuan Shi, Weizhong Yang, Min Hong, Yuan Wang, Matthew S Dargusch, Zhi-Gang Chen
Polyetheretherketone is attractive for dental and orthopedic applications due to its mechanical attributes close to that of human bone; however, the lack of antibacterial capability and bioactivity of polyetheretherketone has substantially impeded its clinical applications. Here, a dual therapy implant coating is developed on the 3D micro-/nanoporous sulfonated polyetheretherketone via layer-by-layer self-assembly of Ag ions and Zn ions. Material characterization studies have indicated that nanoparticles consisting of elemental Ag and ZnO are uniformly incorporated on the porous sulfonated polyetheretherketone surface...
May 21, 2018: Macromolecular Bioscience
https://www.readbyqxmd.com/read/29778881/polymerase-chain-reaction-pcr-based-methods-promising-molecular-tools-in-dentistry
#2
REVIEW
Shahriar Shahi, Sepideh Zununi Vahed, Nazanin Fathi, Simin Sharifi
Polymerase chain reaction (PCR) has become a popular diagnosis and research technique in dentistry. Several studies show that its high sensitivity and specificity allow it as a precise, efficient, and rapid method for detection, identification, and quantification of microorganism. Several genetic polymorphisms can be determined along with detection of immune and inflammatory markers, therefore providing the more accurate perception into the mechanisms underlying the dental and periodontal disease. This review paper discusses the application of PCR as a diagnostic technique in periodontology, endodontic infections, implant-related, and peri-implantitis infection, immune and inflammatory markers identification and genetic polymorphism as well as application of next generation sequencing and gene microarray technology in dentistry mentioned...
May 17, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29777524/mercury-involvement-in-neuronal-damage-and-in-neurodegenerative-diseases
#3
REVIEW
Veronica Lanza Cariccio, Annalisa Samà, Placido Bramanti, Emanuela Mazzon
Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, and multiple sclerosis are characterized by a chronic and selective process of neuronal cell death. Although the causes of neurodegenerative diseases remain still unknown, it is now a well-established idea that more factors, such as genetic, endogenous, and environmental, are involved. Among environmental causes, the accumulation of mercury, a heavy metal considered a toxic agent, was largely studied as a probable factor involved in neurodegenerative disease course...
May 18, 2018: Biological Trace Element Research
https://www.readbyqxmd.com/read/29768735/tobacco-induced-suppression-of-the-vascular-response-to-dental-plaque
#4
Nurcan Buduneli, David A Scott
Cigarette smoking presents oral health professionals with a clinical and research conundrum: reduced periodontal vascular responsiveness to the oral biofilm accompanied by increased susceptibility to destructive periodontal diseases. This presents a significant problem, hampering diagnosis and complicating treatment planning. The aim of this review is to summarize contemporary hypotheses that help explain mechanistically the phenomenon of a suppressed bleeding response to dysbiotic plaque in the periodontia of smokers...
May 16, 2018: Molecular Oral Microbiology
https://www.readbyqxmd.com/read/29765167/the-mineral-content-of-the-hard-dental-tissue-of-mesiodens
#5
Sanja Tanaskovic-Stankovic, Irena Tanaskovic, Nemanja Jovicic, Marina Miletic-Kovacevic, Tatjana Kanjevac, Zoran Milosavljevic
OBJECTIVE: Mesiodens is the most common form of supernumerary tooth mainly located between the maxillary central incisors. Its etiology is not completely understood but both genetic and environmental factors are assumed. The degree of mineralization and inorganic element content in hard tooth tissues is poorly understood as well as is the durability and suitability for allo- and auto-transplantation. Therefore aim of this study was to examine the content of inorganic elements. MATERIALS AND METHODS: This study included 26 mesiodens teeth and 26 normal central incisor teeth as controls...
May 15, 2018: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/29756133/biology-of-teeth-and-implants-host-factors-pathology-regeneration-and-the-role-of-stem-cells
#6
F-Michael Eggert, Liran Levin
In chronic periodontitis and peri-implantitis, cells of the innate and adaptive immune systems are involved directly in the lesions within the tissues of the patient. Absence of a periodontal ligament around implants does not prevent a biologic process similar to that of periodontitis from affecting osseointegration. Our first focus is on factors in the biology of individuals that are responsible for the susceptibility of such individuals to chronic periodontitis and to peri-implantitis. Genetic factors are of significant importance in susceptibility to these diseases...
2018: Quintessence International
https://www.readbyqxmd.com/read/29751744/a-case-of-raine-syndrome-presenting-with-facial-dysmorphy-and-review-of-literature
#7
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype...
May 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29740156/research-on-oral-microbiota-of-monozygotic-twins-with-discordant-caries-experience-in-vitro-and-in-vivo-study
#8
Hongle Wu, Benhua Zeng, Bolei Li, Biao Ren, Jianhua Zhao, Mingyun Li, Xian Peng, Mingye Feng, Jiyao Li, Hong Wei, Lei Cheng, Xuedong Zhou
Oral microbiome is potentially correlated with many diseases, such as dental caries, periodontitis, oral cancer and some systemic diseases. Twin model, as an effective method for studying human microbiota, is widely used in research of relationship between oral microbiota and dental caries. However, there were few researches focusing on caries discordant twins. In this study, in vitro assays were conducted combined with 16S rRNA sequencing analysis on oral microbiota sampled from twins who presented discordant caries experience and mice model was developed as well...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29725259/expanding-the-oro-dental-and-mutational-spectra-of-kabuki-syndrome-and-expression-of-kmt2d-and-kdm6a-in-human-tooth-germs
#9
Thantrira Porntaveetus, Mushriq F Abid, Thanakorn Theerapanon, Chalurmpon Srichomthong, Atsushi Ohazama, Katsushige Kawasaki, Maiko Kawasaki, Kanya Suphapeetiporn, Paul T Sharpe, Vorasuk Shotelersuk
Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, intellectual disability, and multiple developmental abnormalities. Despite more than 350 documented cases, the oro-dental spectrum associated with kabuki syndrome and expression of KMT2D (histone-lysine N-methyltransferase 2D) or KDM6A (lysine-specific demethylase 6A) genes in tooth development have not been well defined. Here, we report seven unrelated Thai patients with Kabuki syndrome having congenital absence of teeth, malocclusion, high-arched palate, micrognathia, and deviated tooth shape and size...
2018: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29724887/four-novel-mutations-in-the-alpl-gene-in-chinese-patients-with-odonto-childhood-and-adult-hypophosphatasia
#10
Lijun Xu, Qianqian Pang, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Background and purpose: Hypophosphatasiais (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase activity. ALPL , the only gene related with HPP, encodes tissue non-specific alkaline phosphatase (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP. The purpose of this study is to elucidate the clinical and genetic characteristics of HPP in 5 unrelated Chinese families and 2 sporadic patients...
May 3, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29705835/liver-proteome-of-mice-with-distinct-genetic-susceptibilities-to-fluorosis-treated-with-different-concentrations-of-f-in-the-drinking-water
#11
Zohaib Nisar Khan, Isabela Tomazini Sabino, Carina Guimarães de Souza Melo, Tatiana Martini, Heloísa Aparecida Barbosa da Silva Pereira, Marília Afonso Rabelo Buzalaf
Appropriate doses of fluoride (F) have therapeutic action against dental caries, but higher levels can cause disturbances in soft and mineralized tissues. Interestingly, the susceptibility to the toxic effects of F is genetically determined. This study evaluated the effects of F on the liver proteome of mice susceptible (A/J) or resistant (129P3/J) to the effects of F. Weanling male A/J (n = 12) and 129P3/J (n = 12) mice were housed in pairs and assigned to two groups given low-F food and drinking water containing 15 or 50 ppm F for 6 weeks...
April 29, 2018: Biological Trace Element Research
https://www.readbyqxmd.com/read/29699389/a-synopsis-on-current-practice-in-the-diagnosis-and-management-of-patients-with-turner-syndrome-in-turkey-a-survey-of-18-pediatric-endocrinology-centers
#12
Ahmet Uçar, Ayhan Abacı, Özgür Pirgon, Bumin Dündar, Filiz Tütüncüler, Gönül Çatlı, Ahmet Anık, Aylin Kılınç Uğurlu, Atilla Büyükgebiz
Objective: A comprehensive survey was conducted courtesy of the Turkish Turner study group to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. Methods: A structured questionnaire prepared by the Turner study group in Turkey, which covers relevant aspects of the care of patients with TS, was sent to all pediatric endocrinology centers. Results: Eighteen centers (41%) returned the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information, and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus...
April 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29698142/contribution-of-streptococcus-mutans-virulence-factors-and-saliva-agglutinating-capacity-to-caries-susceptibility-in-children-a-preliminary-study
#13
Eloa Ramalho de Camargo, Jonas Bitencourt Canalle, Rodriguo Capozzoli, Tanila Wood Dos Santos, Margareth Bulhman Ballini, Lucio Fabio Caldas Ferraz, Thaís Manzano Parisotto, Michelle Darrieux
BACKGROUND: Many factors contribute to caries development in humans, such as diet, host factors - including different saliva components - and the presence of acidogenic bacteria in the dental biofilm, particularly Streptococcus mutans (S. mutans). Despite the influence of S. mutans in caries, this bacterium is also prevalent among healthy individuals, suggesting the contribution of genetic variation on the cariogenic potential. Based on this hypothesis, the present work investigated the influence of S...
April 26, 2018: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29689188/dental-and-maxillofacial-signs-in-aarskog-syndrome-a-review-of-3-siblings-and-the-literature
#14
Arnaud Depeyre, Matthias Schlund, Rémi Gryseleyn, Joel Ferri
PURPOSE: Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination. REPORT OF CASES: This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies...
March 29, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29685165/gastro-oesophageal-reflux-an-important-causative-factor-of-severe-tooth-wear-in-prader-willi-syndrome
#15
Ronnaug Saeves, Finn Strøm, Leiv Sandvik, Hilde Nordgarden
BACKGROUND: Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, such as decreased salivary flow rates and extreme tooth wear, have also been described. Studies have shown a significant increase in reflux symptoms in individuals with obstuctive sleep apnoea syndrome and increased BMI, both of which are typical findings in PWS. Gastro-oesophageal reflux disease (GORD) has been identified in some individuals with PWS and is a significant intrinsic factor in dental tooth wear...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29663268/dental-and-periodontal-manifestations-of-glycogen-storage-diseases-a-case-series-of-60-patients
#16
Martin Biosse Duplan, Aurélie Hubert, Elvire Le Norcy, Alice Louzoun, Ariane Perry, Catherine Chaussain, Philippe Labrune
Glycogen storage diseases (GSDs) are rare genetic disorders of glycogen metabolism where the liver, kidneys, respiratory and cardiac muscles, as well as the immune and skeletal systems can be affected. Oral manifestations can also be present, but the specificity and frequency of these manifestations in the different forms of GSD are unknown. Analysis of a case series of 60 patients presenting four types of GSD (Ia, Ib, III, and IX) showed that the different types of GSDs have common and specific oral manifestations...
April 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29610615/surgical-management-of-facial-features-of-robinow-syndrome-a-case-report
#17
Aida M Mossaad, Moustapha A Abdelrahman, Mostafa A Ibrahim, Hatem H Al Ahmady
BACKGROUND: Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects. CASE PRESENTATION: A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement...
March 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29607224/ellis-van-creveld-syndrome-a-rare-clinical-report-of-oral-rehabilitation-by-interdisciplinary-approach
#18
Talib Amin Naqash, Ibrahim Alshahrani, Siripan Simasetha
Ellis-van Creveld syndrome (EVC) is a very rare genetic disorder that affects various tissues of ectodermal and mesodermal origin; patients with EVC present with typical oral deficiencies. The affected individuals are quite young at the time of oral evaluation. It is, therefore, important that these individuals are diagnosed and receive dental treatment at an early age for their physiologic and psychosocial well-being. Albeit there are numerous articles penned on the EVC, the treatise from an oral perspective is inadequate, covering only oral exhibitions and the preventive treatments...
2018: Case Reports in Dentistry
https://www.readbyqxmd.com/read/29601675/impact-of-scientific-and-technological-advances
#19
I F Dragan, D Dalessandri, L A Johnson, A Tucker, A D Walmsley
Advancements in research and technology are transforming our world. The dental profession is changing too, in the light of scientific discoveries that are advancing biological technology-from new biomaterials to unravelling the genetic make-up of the human being. As health professionals, we embrace a model of continuous quality improvement and lifelong learning. Our pedagogical approach to incorporating the plethora of scientific-technological advancements calls for us to shift our paradigm from emphasis on skill acquisition to knowledge application...
March 2018: European Journal of Dental Education: Official Journal of the Association for Dental Education in Europe
https://www.readbyqxmd.com/read/29575674/dentin-dysplasia-type-i-a-dental-disease-with-genetic-heterogeneity
#20
REVIEW
Dong Chen, Xiaocong Li, Fangli Lu, Yingying Wang, Fu Xiong, Qiang Li
Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2...
March 25, 2018: Oral Diseases
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