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[PMID]:28468148
[Au] Autor:Ligh CA; Swanson J; Yu JW; Samra F; Bartlett SP; Taylor JA
[Ad] Endereço:*Division of Plastic and Reconstructive Surgery, Department of Surgery, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA †Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Southern California, Los Angeles, CA.
[Ti] Título:A Morphological Classification Scheme for the Mandibular Hypoplasia in Treacher Collins Syndrome.
[So] Source:J Craniofac Surg;28(3):683-687, 2017 May.
[Is] ISSN:1536-3732
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mandibular hypoplasia is a hallmark of Treacher Collins syndrome (TCS), and its severity accounts for significant functional morbidity. The purpose of this study is to develop a mandibular classification scheme. METHODS: A classification scheme was designed based on three-dimensional computed tomography (3D-CT) scans to assess 3 characteristic features: degree of condylar hypoplasia, mandibular plane angle (condylion-gonion-menton), and degree of retrognathia (sella-nasion-B point angle). Each category was graded from I to IV and a composite mandible classification was determined by the median value among the 3 component grades. RESULTS: Twenty patients with TCS, aged 1 month to 20 years, with at least one 3D-CT prior to mandibular surgery were studied. Overall, 33 3D-CTs were evaluated and ordered from least to most severe phenotype with 10 (30%) Grade 1 (least severe), 14 (42%) Grade 2, 7 (21%) Grade 3, and 2 (7%) Grade 4 (most severe). Seven patients had at least 2 longitudinal scans encompassing an average 5.7 (range 5-11) years of growth. Despite increasing age, mandibular classification (both components and composite) remained stable in those patients over time (P = 0.2182). CONCLUSION: The authors present a classification scheme for the TCS mandible based on degree of condylar hypoplasia, mandibular plane angle (Co-Go-Me angle), and retrognathia (SNB angle). While there is a natural progression of the mandibular morphology with age, patients followed longitudinally demonstrate consistency in their classification. Further work is needed to determine the classification scheme's validity, generalizability, and overall utility.
[Mh] Termos MeSH primário: Má Oclusão/cirurgia
Disostose Mandibulofacial/classificação
Disostose Mandibulofacial/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Cefalometria/métodos
Criança
Pré-Escolar
Feminino
Seres Humanos
Imagem Tridimensional
Lactente
Masculino
Má Oclusão/classificação
Má Oclusão/diagnóstico
Mandíbula/anormalidades
Disostose Mandibulofacial/diagnóstico
Retrognatismo/classificação
Retrognatismo/diagnóstico
Retrognatismo/cirurgia
Estudos Retrospectivos
Tomografia Computadorizada por Raios X/métodos
Anormalidades Dentárias/classificação
Anormalidades Dentárias/diagnóstico
Anormalidades Dentárias/cirurgia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180126
[Lr] Data última revisão:
180126
[Sb] Subgrupo de revista:D
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1097/SCS.0000000000003470


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[PMID]:29224748
[Au] Autor:Bianchi PM; Bianchi A; Digilio MC; Tucci FM; Sitzia E; De Vincentiis GC
[Ad] Endereço:Surgery Department, Otorhinolaryngology Unit, Bambino Gesù Paediatric Hospital, Scientific Research Institute, 00100 Rome, Italy. Electronic address: piermarco.bianchi@opbg.net.
[Ti] Título:Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.
[So] Source:Int J Pediatr Otorhinolaryngol;103:109-112, 2017 Dec.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico
Doenças do Desenvolvimento Ósseo/diagnóstico
Perda Auditiva Condutiva/etiologia
Deficiência Intelectual/diagnóstico
Proteínas Repressoras/genética
Anormalidades Dentárias/diagnóstico
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Audiometria
Doenças do Desenvolvimento Ósseo/complicações
Doenças do Desenvolvimento Ósseo/genética
Criança
Facies
Feminino
Seres Humanos
Deficiência Intelectual/complicações
Deficiência Intelectual/genética
Mutação
Fenótipo
Anormalidades Dentárias/complicações
Anormalidades Dentárias/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (ANKRD11 protein, human); 0 (Repressor Proteins)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180104
[Lr] Data última revisão:
180104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE


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[PMID]:29157542
[Au] Autor:Masood F; Benavides E
[Ad] Endereço:Department Oral Diagnosis and Radiology, The University of Oklahoma, College of Dentistry, Office 286-A, 1201 North Stonewall Avenue, Oklahoma City, OK 73117, USA. Electronic address: Farah-Masood@ouhsc.edu.
[Ti] Título:Alterations in Tooth Structure and Associated Systemic Conditions.
[So] Source:Radiol Clin North Am;56(1):125-140, 2018 Jan.
[Is] ISSN:1557-8275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A variety of factors can affect the normal development of tissues and may lead to variation in the normal compliment of teeth and development of alterations in the shape and size of teeth. These anomalies can be congenital, developmental, or acquired. Dental anomalies can present as isolated traits or be associated with systemic conditions and syndromes for which early diagnosis and genetic testing may result in better treatment outcomes and quality of life. Dentists play an essential role in the multidisciplinary management of these abnormalities. This article discusses some of these tooth alterations and associated systemic and genetic conditions.
[Mh] Termos MeSH primário: Predisposição Genética para Doença/genética
Radiografia Dentária/métodos
Anormalidades Dentárias/diagnóstico por imagem
Anormalidades Dentárias/genética
Dente/diagnóstico por imagem
[Mh] Termos MeSH secundário: Diagnóstico Diferencial
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171122
[St] Status:MEDLINE


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[PMID]:27777193
[Au] Autor:Hu XY; Yao YF; Cui BM; Lv J; Shen X; Ren B; Li MY; Guo Q; Huang RJ; Li Y
[Ad] Endereço:State Key Laboratory of Oral Diseases, West China School of Stomatology, Sichuan University, Chengdu 610041, China. E-mail: drhuxiaoyu@163.com.
[Ti] Título:[Analysis of causes and whole microbial structure in a case of rampant caries].
[So] Source:Nan Fang Yi Ke Da Xue Xue Bao;36(10):1328-1333, 2016 Oct 20.
[Is] ISSN:1673-4254
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To analyze the whole microbial structure in a case of rampant caries to provide evidence for its prevention and treatment. METHODS: Clinical samples including blood, supragingival plaque, plaque in the caries cavity, saliva, and mucosal swabs were collected with the patient's consent. The blood sample was sent for routine immune test, and the others samples were stained using Gram method and cultured for identifying colonies and 16S rRNA sequencing. DNA was extracted from the samples and tested for the main cariogenic bacterium (Streptococcus mutans) with qPCR, and the whole microbial structure was analyzed using DGGE. RESULTS: The patient had a high levels of IgE and segmented neutrophils in his blood. Streptococci with extremely long chains were found in the saliva samples under microscope. Culture of the samples revealed the highest bacterial concentration in the saliva. The relative content of hemolytic bacterium was detected in the samples, the highest in the caries cavity; C. albicans was the highest in the dental plaque. In addition, 33 bacterial colonies were identified by VITEK system and 16S rDNA sequence phylogenetic analysis, and among them streptococci and Leptotrichia wade were enriched in the dental plaque sample, Streptococcus mutans, Fusobacterium nucleatum, and Streptococcus tigurinus in the caries cavity, and Lactobacillus in the saliva. S. mutans was significantly abundant in the mucosal swabs, saliva and plaque samples of the caries cavity as shown by qPCR. Compared to samples collected from a healthy individual and another two patients with rampant caries, the samples from this case showed a decreased bacterial diversity and increased bacterial abundance shown by PCR-DGGE profiling, and multiple Leptotrichia sp. were detected by gel sequencing. CONCLUSION: The outgrowth of such pathogenic microorganisms as S. mutans and Leptotrichia sp., and dysbiosis of oral microbial community might contribute to the pathogenesis of rampant caries in this case.
[Mh] Termos MeSH primário: Cárie Dentária/microbiologia
Microbiota
[Mh] Termos MeSH secundário: Anormalidades Múltiplas
Placa Dentária/microbiologia
Fusobacterium/isolamento & purificação
Seres Humanos
Imunoglobulina E/sangue
Lactobacillus/isolamento & purificação
Leptotrichia/isolamento & purificação
Deformidades Congênitas dos Membros
Mucosa Bucal/microbiologia
Neutrófilos/citologia
Filogenia
Reação em Cadeia da Polimerase
RNA Ribossômico 16S/genética
Saliva/microbiologia
Streptococcus/isolamento & purificação
Anormalidades Dentárias
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Ribosomal, 16S); 37341-29-0 (Immunoglobulin E)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE


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[PMID]:28957439
[Au] Autor:Romero AN; Herlin M; Finnilä M; Korkalainen M; Håkansson H; Viluksela M; Sholts SB
[Ad] Endereço:Department of Anthropology, University of Arkansas, Fayetteville, Arkansas, United States of America.
[Ti] Título:Skeletal and dental effects on rats following in utero/lactational exposure to the non-dioxin-like polychlorinated biphenyl PCB 180.
[So] Source:PLoS One;12(9):e0185241, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Polychlorinated biphenyls (PCBs) are a large class of persistent organic pollutants that are potentially harmful to human and wildlife health. Although a small number of dioxin-like (DL) PCBs are well characterized, the majority of PCBs have non-dioxin-like (NDL) modes of action and biological effects that are less understood. We conducted a dose-response study of the skeletal and dental effects of in utero/lactational exposure to 2,2',3,4,4',5,5'-heptachlorobiphenyl (PCB 180), a NDL PCB congener that is abundantly present in the environment and foods, including mother's milk. In a sample of 35- and 84-day-old male and female offspring from pregnant rats exposed to different doses of PCB 180 (0, 10, 30, 100, 300, and 1000 mg/kg bw), we measured the three-dimensional (3D) coordinates of 27 landmarks on the craniofacial skeleton with a Microscribe G2X system, the buccolingual width of all molars with digital sliding calipers, and a variety of tibial parameters with peripheral quantitative computed tomography (pQCT) and a biomechanical testing apparatus. The landmark coordinates were analyzed for variation in size, shape, and fluctuating asymmetry (FA) using MorphoJ software, showing no effects on cranial size, on FA in females only (i.e., decreased asymmetry), and on shape in both sexes (i.e., decreased facial length and shift in the palatal suture). In the maxillary teeth, females in the highest dose group showed a significant decrease of 0.1 mm (p = 0.033) of the second molar only, whereas males in most dose groups showed average increases of 0.1 mm (p = 0.006-0.044) in all three molars. In the mandibular teeth, the only significant response to PCB 180 exposure was the average increase of 0.1 mm (p = 0.001-0.025) in the third molars of males only. Males also shower greater sensitivity in postcranial effects of increased tibial length and decreased cortical bone mass density, although only females showed significant effects on tibial bone area and thickness. These results demonstrate marked sex differences in effects of PCB 180, which can be attributed to differences in their underlying biological mechanisms of toxicity. Furthermore, although tooth and bone development are targets of both DL and NDL compounds, this study shows that there are marked differences in their mechanisms and effects.
[Mh] Termos MeSH primário: Lactação/efeitos dos fármacos
Bifenilos Policlorados/toxicidade
Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente
Efeitos Tardios da Exposição Pré-Natal/patologia
Tíbia/patologia
Dente/patologia
[Mh] Termos MeSH secundário: Análise de Variância
Animais
Peso Corporal
Densidade Óssea/efeitos dos fármacos
Feminino
Cabeça/patologia
Masculino
Gravidez
Ratos
Tíbia/efeitos dos fármacos
Dente/efeitos dos fármacos
Anormalidades Dentárias/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
52I0CG8IQX (PCB 180); DFC2HB4I0K (Polychlorinated Biphenyls)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170929
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185241


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[PMID]:28813629
[Au] Autor:Fons Romero JM; Star H; Lav R; Watkins S; Harrison M; Hovorakova M; Headon D; Tucker AS
[Ad] Endereço:1 Department of Craniofacial Development and Stem Cell Biology, King's College London, London, UK.
[Ti] Título:The Impact of the Eda Pathway on Tooth Root Development.
[So] Source:J Dent Res;96(11):1290-1297, 2017 Oct.
[Is] ISSN:1544-0591
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Eda pathway ( Eda, Edar, Edaradd) plays an important role in tooth development, determining tooth number, crown shape, and enamel formation. Here we show that the Eda pathway also plays a key role in root development. Edar (the receptor) is expressed in Hertwig's epithelial root sheath (HERS) during root development, with mutant mice showing a high incidence of taurodontism: large pulp chambers lacking or showing delayed bifurcation or trifurcation of the roots. The mouse upper second molars in the Eda pathway mutants show the highest incidence of taurodontism, this enhanced susceptibility being matched in human patients with mutations in EDA-A1. These taurodont teeth form due to defects in the direction of extension of the HERS from the crown, associated with a more extensive area of proliferation of the neighboring root mesenchyme. In those teeth where the angle at which the HERS extends from the crown is very wide and therefore more vertical, the mutant HERSs fail to reach toward the center of the tooth in the normal furcation region, and taurodont teeth are created. The phenotype is variable, however, with milder changes in angle and proliferation leading to normal or delayed furcation. This is the first analysis of the role of Eda in the root, showing a direct role for this pathway during postnatal mouse development, and it suggests that changes in proliferation and angle of HERS may underlie taurodontism in a range of syndromes.
[Mh] Termos MeSH primário: Cavidade Pulpar/anormalidades
Ectodisplasinas/genética
Dente Molar/anormalidades
Dente Molar/embriologia
Anormalidades Dentárias/genética
Raiz Dentária/anormalidades
Raiz Dentária/embriologia
[Mh] Termos MeSH secundário: Adolescente
Animais
Criança
Seres Humanos
Masculino
Camundongos
Odontogênese/genética
Fenótipo
Transdução de Sinais
Microtomografia por Raio-X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EDA protein, human); 0 (Ectodysplasins); 0 (Eda protein, mouse)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170817
[St] Status:MEDLINE
[do] DOI:10.1177/0022034517725692


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[PMID]:28804114
[Au] Autor:Takeshima S; Shiga Y; Himeno T; Tachiyama K; Kamimura T; Kono R; Takemaru M; Takeshita J; Shimoe Y; Kuriyama M
[Ad] Endereço:Department of Neurology, Brain Attack Center, Ota Memorial Hospital.
[Ti] Título:Clinical, epidemiological and etiological studies of adult aseptic meningitis: Report of 11 cases with varicella zoster virus meningitis.
[So] Source:Rinsho Shinkeigaku;57(9):492-498, 2017 09 30.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:We treated 11 cases (52.7 ± 14.9 years, all male) with varicella zoster virus (VZV) meningitis and 437 cases with adult aseptic meningitis from 2004 to 2016. The incidence rate of adult VZV meningitis in the cases with aseptic meningitis was 2.5%. Herpes zoster infections are reported to have occurred frequently in summer and autumn. VZV meningitis also occurred frequently in the similar seasons, in our patients. The diagnoses were confirmed in 9 cases with positive VZV-DNA in the cerebrospinal fluid and in 2 cases with high VZV-IgG indexes (> 2.0). For diagnosis confirmation, the former test was useful for cases within a week of disease onset, and the latter index was useful for cases after a week of disease onset. Zoster preceded the meningitis in 8 cases, while the meningitis preceded zoster in 1 case, and 2 cases did not have zoster (zoster sine herpete). Two patients were carriers of the hepatitis B virus, 1 patient was administered an influenza vaccine 4 days before the onset of meningitis, and 1 patient was orally administered prednisolone for 2 years, for treatment. Their immunological activities might have been suppressed. The neurological complications included trigeminal neuralgia, facial palsy (Ramsay Hunt syndrome), glossopharyngeal neuralgia, and Elsberg syndrome. Because the diseases in some patients can become severe, they require careful treatment.
[Mh] Termos MeSH primário: Herpes Zoster
Herpesvirus Humano 3
Meningite Viral
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Biomarcadores/sangue
Fenda Labial/etiologia
Fissura Palatina/etiologia
DNA Viral/sangue
Ectrópio/etiologia
Paralisia Facial/etiologia
Doenças do Nervo Glossofaríngeo/etiologia
Herpes Zoster/complicações
Herpes Zoster/diagnóstico
Herpes Zoster/epidemiologia
Herpes Zoster/virologia
Herpesvirus Humano 3/genética
Herpesvirus Humano 3/imunologia
Seres Humanos
Imunoglobulina G/sangue
Japão/epidemiologia
Masculino
Meningite Viral/complicações
Meningite Viral/diagnóstico
Meningite Viral/epidemiologia
Meningite Viral/virologia
Meia-Idade
Estações do Ano
Índice de Gravidade de Doença
Anormalidades Dentárias/etiologia
Neuralgia do Trigêmeo/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (DNA, Viral); 0 (Immunoglobulin G)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170815
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-001054


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[PMID]:28783411
[Au] Autor:Juuri E; Balic A
[Ad] Endereço:1 Department of Oral and Maxillofacial Diseases, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
[Ti] Título:The Biology Underlying Abnormalities of Tooth Number in Humans.
[So] Source:J Dent Res;96(11):1248-1256, 2017 Oct.
[Is] ISSN:1544-0591
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In past decades, morphologic, molecular, and cellular mechanisms that govern tooth development have been extensively studied. These studies demonstrated that the same signaling pathways regulate development of the primary and successional teeth. Mutations of these pathways lead to abnormalities in tooth development and number, including aberrant tooth shape, tooth agenesis, and formation of extra teeth. Here, we summarize the current knowledge on the development of the primary and successional teeth in animal models and describe some of the common tooth abnormalities in humans.
[Mh] Termos MeSH primário: Anormalidades Dentárias/embriologia
[Mh] Termos MeSH secundário: Animais
Anodontia/embriologia
Seres Humanos
Morfogênese
Odontogênese
Transdução de Sinais
Dente Supranumerário/embriologia
Fatores de Transcrição/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Transcription Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:170808
[St] Status:MEDLINE
[do] DOI:10.1177/0022034517720158


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[PMID]:28731248
[Au] Autor:Happle R
[Ad] Endereço:Department of Dematology, Faculty of Medicine, University of Freiburg, Hauptstr. 7, 79104, Freiburg, Germany.
[Ti] Título:Lessons to be learned from type 1 segmental Gorlin syndrome.
[So] Source:Br J Dermatol;177(1):20-21, 2017 07.
[Is] ISSN:1365-2133
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome do Nevo Basocelular
Sindactilia
[Mh] Termos MeSH secundário: Anormalidades Craniofaciais
Anormalidades do Olho
Seres Humanos
Anormalidades Dentárias
[Pt] Tipo de publicação:JOURNAL ARTICLE; COMMENT
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170722
[St] Status:MEDLINE
[do] DOI:10.1111/bjd.15608


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[PMID]:28498836
[Au] Autor:Andersson K; Dahllöf G; Lindahl K; Kindmark A; Grigelioniene G; Åström E; Malmgren B
[Ad] Endereço:Department of Dental Medicine, Division of Pediatric Dentistry, Karolinska Institutet, Huddinge, Sweden.
[Ti] Título:Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
[So] Source:PLoS One;12(5):e0176466, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations.
[Mh] Termos MeSH primário: Colágeno Tipo I/genética
Dentinogênese Imperfeita/etiologia
Mutação/genética
Osteogênese Imperfeita/complicações
Osteogênese Imperfeita/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Cavidade Pulpar/anormalidades
Dentinogênese Imperfeita/genética
Feminino
Genótipo
Seres Humanos
Lactente
Masculino
Mutação de Sentido Incorreto/genética
Fenótipo
Estudos Retrospectivos
Anormalidades Dentárias/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (COL1A2 protein, human); 0 (Collagen Type I); 0 (collagen type I, alpha 1 chain)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0176466



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