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amelogenesis imperfecta

Kawther Taleb, Eva Lauridsen, Jette Daugaard-Jensen, Pekka Nieminen, Sven Kreiborg
BACKGROUND: Dentinogenesis imperfecta (DI) is a rare debilitating hereditary disorder affecting dentin formation and causing loss of the overlying enamel. Clinically, DI sufferers have a discolored and weakened dentition with an increased risk of fracture. The aims of this study were to assess genotype-phenotype findings in three families with DI-II with special reference to mutations in the DSPP gene and clinical, histological, and imaging manifestations. METHODS: Nine patients participated in the study (two from family A, four from family B, and three from family C)...
March 6, 2018: Molecular Genetics & Genomic Medicine
Mine Koruyucu, Figen Seymen, Genco Gencay, Koray Gencay, Elif Bahar Tuna, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Jung-Wook Kim
BACKGROUND/AIMS: Enamel-renal syndrome is characterized by nephrocalcinosis, enamel defects, gingival hyperplasia and eruption failures. It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A mutations also have nephrocalcinosis. METHODS: Complete oral and radiological examinations were performed for all participating family members...
February 13, 2018: Nephron
Nashila Hirji, Patrick D Bradley, Shuning Li, Ajoy Vincent, Mark E Pennesi, Akshay S Thomas, Elise Heon, Aparna Bhan, Omar A Mahroo, Anthony Robson, Chris F Inglehearn, Anthony T Moore, Michel Michaelides
No abstract text is available yet for this article.
February 5, 2018: American Journal of Ophthalmology
Dian Yosi Arinawati, Keiko Miyoshi, Ayako Tanimura, Taigo Horiguchi, Hiroko Hagita, Takafumi Noma
The conventional two-dimensional (2D) in vitro culture system is frequently used to analyze the gene expression with or without extracellular signals. However, the cells derived from primary culture and cell lines frequently deviate the gene expression profile compared to the corresponding in vivo samples, which sometimes misleads the actual gene regulation in vivo. To overcome this gap, we developed the comparative 2D and 3D in vitro culture systems and applied them to the genetic study of amelogenesis imperfecta (AI) as a model...
January 31, 2018: Journal of Bioscience and Bioengineering
Susanne Strauch, Sebastian Hahnel
PURPOSE: To summarize the contemporary scientific evidence available regarding restorative dental treatment in patients with Amelogenesis imperfecta (AI). METHODS: An electronic literature search was conducted using the search term "Amelogenesis imperfecta" and the PubMed/MEDLINE database as well as Google Scholar. Prospective and retrospective clinical studies that investigated the outcome of direct and/or indirect dental restorative treatment in patients with AI, were published in English, and had an observation time of at least 1 year were included in this review...
January 29, 2018: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
Andrea Klink, Martin Groten, Fabian Huettig
OBJECTIVES: This clinical follow-up evaluated the long-term outcome of full-mouth rehabilitations with adhesively bonded all-ceramic restorations in patients suffering from amelogenesis imperfecta (AI) or affected by extensive tooth wear including a loss of the vertical dimension of occlusion. MATERIALS AND METHODS: Included for evaluation were all patients treated with adhesively bonded monolithic single-tooth restorations made of silicate or lithium disilicate ceramics; allowing a maximum four missing teeth and a facial feldspathic veneering of LDS anterior crowns...
December 21, 2017: Journal of Dentistry
Niels C Pedersen, Bonnie Shope, Hongwei Liu
Background: Pure breeding of dogs has led to over 700 heritable disorders, of which almost 300 are Mendelian in nature. Seventy percent of the characterized mutations have an autosomal recessive mode of inheritance, indicative of positive selection during bouts of inbreeding primarily for new desired conformational traits. Samoyed suffer from several common complex genetic disorders, but up to this time only two X-linked and one autosomal dominant disorder have been identified. Previous studies based on pedigrees and SNP arrays have concluded that Samoyed breeders have done a good job in maintaining genetic diversity and avoiding excessive inbreeding...
2017: Canine Genetics and Epidemiology
Nalini Aswath, Sankar Narayanan Ramakrishnan, Nithya Teresa, Arvind Ramanathan
OBJECTIVE: Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations within the coding region of the ROGDI gene in KTS patients of European or Jewish decent. In the present study, we have investigated the genetic status of ROGDI in a fourteen year old South Indian patient of Dravidian race born to consanguineous parents, who was clinically diagnosed with KTS STUDY DESIGN: To confirm the clinical diagnosis of KTS in the patient, primers were designed flanking each of the 11 exons of the ROGDI gene...
January 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Donatus Riemann, Rebecca Wallrafen, Thomas Dresbach
Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded by Rogdi, and hence the pathogenic mechanisms underlying Kohlschütter-Tönz syndrome have remained elusive. Using immunofluorescence of rat cultured hippocampal neurons and brain sections we find that Rogdi is enriched at synaptic sites...
November 17, 2017: Scientific Reports
Ian Towle, Joel D Irish, Isabelle De Groote
This report describes a case of amelogenesis imperfecta in the dentition of a female chimpanzee. Amelogenesis imperfecta is a group of rare genetic conditions that create severe enamel defects, which, although well researched in humans, has not yet been investigated in wild non-human primates.
November 7, 2017: Journal of Medical Primatology
Jan-Frederik Güth, Ana Elisa Colle Kauling, Josef Schweiger, Jan Kühnisch, Michael Stimmelmayr
Innovative digital diagnostic, design, and manufacturing technologies combined with high-performance polymers offer new possibilities to facilitate complex interdisciplinary treatment procedures. This article reports on the interaction of different digital technologies, from presurgical digital simulation of periodontal surgery to final prosthodontic rehabilitation, in a case of amelogenesis imperfecta in a 17-year-old girl. The aim was to digitally determine the treatment outcome by three-dimensional simulation of the soft tissue removal and to create computer-aided design/computer-assisted manufacture tooth-colored splints before the clinical treatment...
November 2017: International Journal of Periodontics & Restorative Dentistry
Rozalio Halal, Johnny Nohra, Hadi Akel
Amelogenesis imperfecta is a genetic disorder that affects the structure of enamel and consequently the function, esthetics, and psychology of young patients. Restoring the dentition of a child with minimal tooth preparation is achievable with polymer-infiltrated ceramics. The treatment of a 12-year-old child presenting with amelogenesis imperfecta is described. An in-office computer-aided design and computer-aided manufacturing (CAD-CAM) system and polymer-infiltrated ceramic blocks were used in a noninvasive procedure...
September 26, 2017: Journal of Prosthetic Dentistry
Steven J Brookes, Martin J Barron, Michael J Dixon, Jennifer Kirkham
During the secretory phase of their life-cycle, ameloblasts are highly specialized secretory cells whose role is to elaborate an extracellular matrix that ultimately confers both form and function to dental enamel, the most highly mineralized of all mammalian tissues. In common with many other "professional" secretory cells, ameloblasts employ the unfolded protein response (UPR) to help them cope with the large secretory cargo of extracellular matrix proteins transiting their ER (endoplasmic reticulum)/Golgi complex and so minimize ER stress...
2017: Frontiers in Physiology
Nebiha Hilal Bilge, Selin Yeşiltepe, Kübra Törenek Ağırman, Fatma Çağlayan, Osman Murat Bilge
BACKGROUND: This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6 to 40 year-old patients by using panoramic radiographs. MATERIALS AND METHODS: This cross-sectional study was conducted by analyzing digital panoramic radiographs of 1200 patients admitted to our clinic in 2014. Dental anomalies were examined under 5 types and 16 subtypes. Dental anomalies were divided into five types: (a) number (including hypodontia, oligodontia and hyperdontia); (b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia); (d) position (including transposition, ectopia, displacement, impaction and inversion); (e) shape (including fusion-gemination, dilaceration and taurodontism); RESULTS: The prevalence of dental anomalies diagnosed by panoramic radiographs was 39...
September 21, 2017: Folia Morphologica (Warsz)
A C V Kumar, V Alekya, M S V V Krishna, K Alekya, M Aruna, M H K Reddy, B Sangeetha, R Ram, V S Kumar
Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. AI could be part of several syndromes. The enamel renal syndrome is the association of AI and nephrocalcinosis. We report two patients of AI with Bartter's syndrome.
September 2017: Indian Journal of Nephrology
Maria Grazia Cagetti, Stefano Cattaneo, Ye Qing Hu, Guglielmo Campus
Objective-Evaluate esthetic and functional efficacy of infiltrant resin (Icon, DMG, Hamburg, Germany) in Amelogenesis Imperfecta's treatment. STUDY DESIGN: Two adolescent patients, G.S. (13 years old) and C.M. (15 years old), affected by the hypomaturation type of Amelogenesis Imperfecta, were treated with Icon resin and were followed for twelve months. RESULTS: Treated teeth show an excellent aesthetical result immediately after the resin application, effect that lasts in the long-term (six and twelve months follow-up examinations); the dental wear's progression seems to be clinically arrested...
2017: Journal of Clinical Pediatric Dentistry
C Leevailoj, S Lawanrattanakul, K Mahatumarat
Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and that are passed down through families as a dominant trait. This condition is characterized by abnormal enamel formation caused by gene mutations that alter the quality and/or quantity of enamel. This dental problem can impact both primary and permanent dentition, varies among affected individuals, and results in esthetic and functional problems. This condition caused the patient in the current case report to have a lack of confidence when speaking...
September 2017: Operative Dentistry
Christopher A Emerling, Andrew D Widjaja, Nancy N Nguyen, Mark S Springer
Throughout Earth's history, evolution's numerous natural 'experiments' have resulted in a diverse range of phenotypes. Though de novo phenotypes receive widespread attention, degeneration of traits inherited from an ancestor is a very common, yet frequently neglected, evolutionary path. The latter phenomenon, known as regressive evolution, often results in vertebrates with phenotypes that mimic inherited disease states in humans. Regressive evolution of anatomical and/or physiological traits is typically accompanied by inactivating mutations underlying these traits, which frequently occur at loci identical to those implicated in human diseases...
August 16, 2017: Journal of Medical Genetics
Rym Kammoun, Catherine Behets, Lamia Mansour, Sonia Ghoul-Mazgar
To explore the mineral features of dentin and cementum in hypoplastic AI teeth MATERIALS AND METHODS: Forty four (44) teeth cleaned and free of caries were used: 20 control and 24 affected by hypoplastic amelogenesis imperfecta. Thirty-two teeth were studied by pQCT, cut in sections and analysed under microradiography, polarized light microscopy and confocal Raman spectroscopy. Eight teeth were observed under scanning electron microscope. Four teeth were used for an X-ray diffraction. The mineral density data were analysed statistically with the Mann-Whitney U test, using GraphPad InStat Software RESULTS: Both coronal and radicular dentin were less mineralized in AI teeth when compared to control (respectively 6...
August 3, 2017: Oral Diseases
Y Furukawa, N Haruyama, M Nikaido, M Nakanishi, N Ryu, M Oh-Hora, K Kuremoto, K Yoshizaki, Y Takano, I Takahashi
Loss-of-function mutations in the Ca(2+) release-activated Ca(2+) channel genes ORAI1 and STIM1 abolish store-operated Ca(2+) entry (SOCE) and result in ectodermal dysplasia with amelogenesis imperfecta. However, because of the limited availability of patient tissue, analyses of enamel mineralization or possible changes in ameloblast function or morphology have not been possible. Here, we generated mice with ectodermal tissue-specific deletion of Stim1 ( Stim1 cKO [conditional knockout]), Stim2 ( Stim2 cKO), and Stim1 and Stim2 ( Stim1/2 cKO) and analyzed their enamel phenotypes as compared with those of control ( Stim1/2(fl/fl)) animals...
November 2017: Journal of Dental Research
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