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Search on : Odontodysplasia [Words]
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[PMID]: 28605144
[Au] Autor:de Carvalho LM; Ngoumou G; Park JW; Ehmke N; Deigendesch N; Kitabayashi N; Melki I; Souza FFL; Tzschach A; Nogueira-Barbosa MH; Ferriani V; Louzada-Junior P; Marques W; Lourenço CM; Horn D; Kallinich T; Stenzel W; Hur S; Rice GI; Crow YJ
[Ad] Address:Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
[Ti] Title:Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
[So] Source:Arthritis Rheumatol;69(10):2081-2091, 2017 Oct.
[Is] ISSN:2326-5205
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy. METHODS: We identified 2 families segregating an autosomal-dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma, and basal ganglia calcification. We measured the expression of interferon (IFN)-stimulated genes in the peripheral blood and skin, and undertook targeted Sanger sequencing of the IFIH1 gene encoding the cytosolic double-stranded RNA (dsRNA) sensor melanoma differentiation-associated protein 5 (MDA-5). We also assessed the functional consequences of IFIH1 gene variants using an in vitro IFNß reporter assay in HEK 293T cells. RESULTS: We recorded an up-regulation of type I IFN-induced gene transcripts in all 5 patients tested and identified a heterozygous gain-of-function mutation in IFIH1 in each family, resulting in different substitutions of the threonine residue at position 331 of MDA-5. Both of these variants were associated with increased IFNß expression in the absence of exogenous dsRNA ligand, consistent with constitutive activation of MDA-5. CONCLUSION: These cases highlight the significant musculoskeletal involvement that can be associated with mutations in MDA-5, and emphasize the value of testing for up-regulation of IFN signaling as a marker of the underlying molecular lesion. Our data indicate that both Singleton-Merten syndrome and neuroinflammation described in the context of MDA-5 gain-of-function constitute part of the same type I interferonopathy disease spectrum, and provide possible novel insight into the pathology of Jaccoud's arthropathy.
[Mh] MeSH terms primary: Aortic Diseases/genetics
Basal Ganglia Diseases/genetics
Calcinosis/genetics
Dental Enamel Hypoplasia/genetics
Glaucoma/genetics
Heart Valve Diseases/genetics
Interferon-Induced Helicase, IFIH1/genetics
Metacarpus/abnormalities
Muscular Diseases/genetics
Musculoskeletal Diseases/genetics
Odontodysplasia/genetics
Osteoporosis/genetics
Psoriasis/genetics
Vascular Calcification/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Child
HEK293 Cells
Heterozygote
Humans
Middle Aged
Mutation
Syndrome
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:EC 3.6.1.- (IFIH1 protein, human); EC 3.6.4.13 (Interferon-Induced Helicase, IFIH1)
[Em] Entry month:1710
[Cu] Class update date: 171010
[Lr] Last revision date:171010
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170613
[St] Status:MEDLINE
[do] DOI:10.1002/art.40179

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[PMID]: 28319323
[Au] Autor:Pettersson M; Bergendal B; Norderyd J; Nilsson D; Anderlid BM; Nordgren A; Lindstrand A
[Ad] Address:Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
[Ti] Title:Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
[So] Source:Am J Med Genet A;173(5):1396-1399, 2017 May.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Singleton-Merten syndrome (MIM 182250) is an autosomal dominant inherited disorder characterized by early onset periodontitis, root resorption, osteopenia, osteoporosis, and aortic valve or thoracic aorta calcification. The disorder can have significant intrafamilial phenotypic variability. Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G>A p.(Arg822Gln), in IFIH1 (interferon induced with helicase C domain 1), encoding MDA5 (Melanoma Differentiation-Associated protein 5). These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder. In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture. Investigations of known SLE genes as well as a single nucleotide polymorphism suggested to be involved in development of SLE were normal.
[Mh] MeSH terms primary: Aortic Diseases/genetics
Dental Enamel Hypoplasia/genetics
Genetic Heterogeneity
Interferon-Induced Helicase, IFIH1/genetics
Metacarpus/abnormalities
Muscular Diseases/genetics
Odontodysplasia/genetics
Osteoporosis/genetics
Vascular Calcification/genetics
[Mh] MeSH terms secundary: Adult
Aortic Diseases/physiopathology
Dental Enamel Hypoplasia/physiopathology
Female
Humans
Lupus Erythematosus, Systemic/genetics
Lupus Erythematosus, Systemic/physiopathology
Metacarpus/physiopathology
Muscular Diseases/physiopathology
Mutation, Missense
Odontodysplasia/physiopathology
Osteoporosis/physiopathology
Phenotype
Vascular Calcification/physiopathology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:EC 3.6.1.- (IFIH1 protein, human); EC 3.6.4.13 (Interferon-Induced Helicase, IFIH1)
[Em] Entry month:1705
[Cu] Class update date: 170508
[Lr] Last revision date:170508
[Js] Journal subset:IM
[Da] Date of entry for processing:170321
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38214

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[PMID]: 28097027
[Au] Autor:Al-Mullahi AM; Toumba KJ
[Ad] Address:Oral Health Department, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
[Ti] Title:Regional Odontodysplasia with Generalised Enamel Defect.
[So] Source:Case Rep Dent;2016:4574673, 2016.
[Is] ISSN:2090-6447
[Cp] Country of publication:Egypt
[La] Language:eng
[Ab] Abstract:Regional odontodysplasia (ROD) is uncommon developmental anomaly, which tends to be localised and involves the ectodermal and mesodermal tooth components. A five-year-old female was referred to Department of Child Dental Health at the Leeds Dental Institute regarding malformed primary teeth. On examination 64, 74, and 72 had localised hypomineralized enamel defect. The crown of 55 was broken down with only the root remaining below the gingival level. 54 has a yellowish brown discolouration with rough irregular surface. The upper anterior teeth show mild enamel opacity. Radiographically, 55 and 54 had thin radioopaque contour, showing poor distinction between the enamel and dentine and the classic feature of a wide pulp chamber. 15, 16, and 17 were developmentally delayed and were displaying the characteristic "ghost appearance." Comprehensive dental care was done under local anaesthesia and it included extraction of the primary molars affected by ROD, stainless steel crown on 64, and caries prevention program. Fifteen months following the initial assessment the patient's oral condition remains stable and she is under regular follow-up at the department. Paediatric dentists should be aware of this anomaly as it involves both dentitions and usually requires multidisciplinary care.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1701
[Cu] Class update date: 170224
[Lr] Last revision date:170224
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1155/2016/4574673

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[PMID]: 27284563
[Au] Autor:Jahanimoghadam F; Pishbin L; Rad M
[Ad] Address:Oral & Dental Research Center, Dept. of Pediatric Dentistry, School of Dentistry, Kerman University of Medical Sciences, Kerman, Iran.# #
[Ti] Title:Clinical, Radiographic, and Histologic Evaluation of Regional Odontodysplasia: a Case Report with 5-year Follow-up.
[So] Source:J Dent (Shiraz);17(2):159-63, 2016 Jun.
[Is] ISSN:2345-6485
[Cp] Country of publication:Iran
[La] Language:eng
[Ab] Abstract:Regional odontodysplasia is a developmental anomaly that affects the primary and permanent dentitions. This disorder is generally localized in only one arch and its etiology is still unknown. Clinically, the affected teeth have an abnormal morphology and are typically discolored. Radiographically, these teeth show a ghost-like appearance. This paper reported the results of radiographic, histologic and laboratory findings about the case of a 5-year-old girl presenting this rare anomaly. Her familial history was negative for any genetic anomaly, regional odontodysplasia or other dental anomalies. The patient's general health was good and no congenital or acquired disease was reported. She was kept under follow-up care until she reached the age of 10 years. Panoramic radiograph showed the involvement of permanent teeth on the right maxillary quadrant. The affected edentulous quadrant was rehabilitated with temporary acrylic maxillary partial denture. The presentation of this case would hopefully have valuable information for pediatric dentists to review the clinical and radiographic features of regional odontodysplasia, yet expediting the diagnosis and treatment of patients with this condition.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1606
[Cu] Class update date: 170220
[Lr] Last revision date:170220
[Da] Date of entry for processing:160611
[St] Status:PubMed-not-MEDLINE

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[PMID]: 27260006
[Au] Autor:Volpi S; Picco P; Caorsi R; Candotti F; Gattorno M
[Ad] Address:U.O. Pediatria 2, Istituto Giannina Gaslini, Genoa, Italy.
[Ti] Title:Type I interferonopathies in pediatric rheumatology.
[So] Source:Pediatr Rheumatol Online J;14(1):35, 2016 Jun 04.
[Is] ISSN:1546-0096
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-ß and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy.
[Mh] MeSH terms primary: Arthritis, Juvenile/immunology
Autoimmune Diseases/immunology
Interferon Type I/immunology
[Mh] MeSH terms secundary: Aortic Diseases/genetics
Aortic Diseases/immunology
Arthritis, Juvenile/diagnosis
Autoimmune Diseases/diagnosis
Autoimmune Diseases/genetics
Autoimmune Diseases/therapy
Autoimmune Diseases of the Nervous System/diagnosis
Autoimmune Diseases of the Nervous System/immunology
Dental Enamel Hypoplasia/genetics
Dental Enamel Hypoplasia/immunology
Homozygote
Humans
Interferon Type I/genetics
Lupus Erythematosus, Systemic/diagnosis
Lupus Erythematosus, Systemic/genetics
Lupus Erythematosus, Systemic/immunology
Metacarpus/abnormalities
Metacarpus/immunology
Muscular Diseases/genetics
Muscular Diseases/immunology
Mutation/genetics
Mutation/immunology
Nervous System Malformations/diagnosis
Nervous System Malformations/immunology
Odontodysplasia/genetics
Odontodysplasia/immunology
Osteochondrodysplasias/genetics
Osteochondrodysplasias/immunology
Osteoporosis/genetics
Osteoporosis/immunology
Proteome/genetics
Proteome/immunology
Rare Diseases/diagnosis
Rare Diseases/immunology
Rare Diseases/therapy
Signal Transduction
Vascular Calcification/genetics
Vascular Calcification/immunology
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Interferon Type I); 0 (Proteome)
[Em] Entry month:1703
[Cu] Class update date: 170321
[Lr] Last revision date:170321
[Js] Journal subset:IM
[Da] Date of entry for processing:160605
[St] Status:MEDLINE
[do] DOI:10.1186/s12969-016-0094-4

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[PMID]: 27194886
[Au] Autor:Gupta SS; Shetty DC; Urs AB; Nainani P
[Ad] Address:Department of Oral and Maxillofacial Pathology and Microbiology, RKDF Dental College, Bhopal, Madhya Pradesh, India.
[Ti] Title:Role of inflammation in developmental odontogenic pathosis.
[So] Source:J Oral Maxillofac Pathol;20(1):164, 2016 Jan-Apr.
[Is] ISSN:0973-029X
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Periapical infection in the primary tooth may lead to periapical abscess, granuloma, radicular cyst and even osteomyelitis. The infection in primary teeth can also affect the developing successor teeth leading to hypomineralization, hypoplasia, arrest of tooth development, regional odontodysplasia, delayed eruption etc. The purpose of this article is to report a case of malformed permanent tooth in relation to overlying infected deciduous teeth. The probable role of inflammation in pathogenesis of the present condition is also being discussed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 170220
[Lr] Last revision date:170220
[Da] Date of entry for processing:160520
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.4103/0973-029X.180986

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[PMID]: 26964878
[Au] Autor:Krøigård AB; Clemmensen O; Gjørup H; Hertz JM; Bygum A
[Ad] Address:Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000, Odense, Denmark. anne.kroeigaard@rsyd.dk.
[Ti] Title:Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.
[So] Source:BMC Dermatol;16:3, 2016 Mar 10.
[Is] ISSN:1471-5945
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS). CASE PRESENTATION: We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia. CONCLUSION: This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.
[Mh] MeSH terms primary: Codon, Nonsense
Ectodermal Dysplasia/genetics
Homozygote
Odontodysplasia/genetics
Wnt Proteins/genetics
[Mh] MeSH terms secundary: Adult
Female
Humans
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); 0 (WNT10A protein, human); 0 (Wnt Proteins)
[Em] Entry month:1610
[Cu] Class update date: 170220
[Lr] Last revision date:170220
[Js] Journal subset:IM
[Da] Date of entry for processing:160312
[St] Status:MEDLINE
[do] DOI:10.1186/s12895-016-0040-7

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[PMID]: 26752881
[Au] Autor:Prakash SM; Gupta S; Kamarthi N; Goel S
[Ad] Address:Department of Oral Medicine and Radiology, Subharti Dental College, Meerut, Uttar Pradesh, India.
[Ti] Title:Inflammatory linear verrucous epidermal nevus and regional odontodysplasia: A rare sorority.
[So] Source:Indian J Dent;6(4):203-6, 2015 Oct-Dec.
[Is] ISSN:0975-962X
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Epidermal nevi are hamartomatous lesion and its association with other developmental defects particularly of the central nervous system, eye and skeletal system are well recognized. We report a rare case of inflammatory linear verrucous epidermal nevus syndrome along with regional odontodysplasia; and to the best of our knowledge this is the second case reported in the literature.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1601
[Cu] Class update date: 170220
[Lr] Last revision date:170220
[Da] Date of entry for processing:160112
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.4103/0975-962X.160348

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[PMID]: 26578979
[Au] Autor:Luder HU
[Ad] Address:Center of Dental Medicine, Institute of Oral Biology, University of Zurich Zurich, Switzerland.
[Ti] Title:Malformations of the tooth root in humans.
[So] Source:Front Physiol;6:307, 2015.
[Is] ISSN:1664-042X
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1511
[Cu] Class update date: 170220
[Lr] Last revision date:170220
[Da] Date of entry for processing:151119
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.3389/fphys.2015.00307

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[PMID]: 26538974
[Au] Autor:Mathew A; Dauravu LM; Reddy SN; Kumar KR; Venkataramana V
[Ad] Address:Department of Pedodontics, Mar Baselios Dental College, Kothamangalam, Kerala, India.
[Ti] Title:Ghost teeth: Regional odontodysplasia of maxillary first molar associated with eruption disorders in a 10-year-old girl.
[So] Source:J Pharm Bioallied Sci;7(Suppl 2):S800-3, 2015 Aug.
[Is] ISSN:0976-4879
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Regional odontodysplasia (RO) is an uncommon, developmental anomaly of the dental hard tissues that affects ectodermal and mesodermal dental components with characteristic clinical and radiographic findings. Clinically, RO affects a particular segment in either or both dentitions in the maxilla or mandible or both jaws. Radiographic features have consistently demonstrated thin and defective layers of enamel and dentine, resulting in a faint, fuzzy outline, creating a ghost-like appearance. The RO etiology is uncertain; numerous factors have been suggested and considered as local trauma, irradiation, hypophosphatasia, hypocalcemia, hyperpyrexia. A case of RO in a 10-year-old girl whose chief complaint were forwardly placed upper front teeth and the absence of eruption of permanent teeth. Clinical and radiographic features are described.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1511
[Cu] Class update date: 170220
[Lr] Last revision date:170220
[Da] Date of entry for processing:151106
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.4103/0975-7406.163570


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