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1.
Clin Genet ; 105(1): 44-51, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37814412

RESUMO

Neonatal ichthyosis and sclerosing cholangitis syndrome (NISCH), also known as ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC), is an extremely rare disease of autosomal recessive inheritance, resulting from loss of function of the tight junction protein claudin-1. Its clinical presentation is highly variable, and is characterized by liver and ectodermal involvement. Although most ILVASC cases described to date were attributed to homozygous truncating variants in CLDN1, a single missense variant CLDN1 p.Arg81His, associated with isolated skin ichthyosis phenotype, has been recently reported in a family of Moroccan Jewish descent. We now describe seven patients with ILVASC, originating from four non consanguineous families of North African Jewish ancestry (including one previously reported family), harboring CLDN1 p.Arg81His variant, and broaden the phenotypic spectrum attributed to this variant to include teeth, hair, and liver/bile duct involvement, characteristic of ILVASC. Furthermore, we provide additional evidence for pathogenicity of the CLDN1 p.Arg81His variant by transmission electron microscopy of the affected skin, revealing distorted tight junction architecture, and show through haplotype analysis in the vicinity of the CLDN1 gene, that this variant represents a founder variant in Jews of Moroccan descent with an estimated carrier frequency of 1:220.


Assuntos
Colangite Esclerosante , Ictiose , Transtornos Leucocíticos , Humanos , Recém-Nascido , Alopecia/genética , Colangite Esclerosante/genética , Claudina-1/genética , Ictiose/genética , Judeus/genética , Transtornos Leucocíticos/complicações , Transtornos Leucocíticos/genética , Síndrome
2.
Sci Rep ; 12(1): 20502, 2022 11 28.
Artigo em Inglês | MEDLINE | ID: mdl-36443427

RESUMO

This retrospective cohort study aimed to examine trends in pediatric (0-18 years old) hospitalizations due to dentoalveolar infection, before and after the inclusion of pediatric dental care in Israel's National Health Insurance Law. Data were collected from the medical records of one oral and maxillofacial surgery department. Data were compared between patients hospitalized during 2002-2010 (group A, n = 531) and 2011-2019 (group B, n = 381). The mean age of the cohort was 8 years. A dentoalveolar abscess was the main cause of hospitalizations in both groups. Group B exhibited a higher rate of previous dental treatment in general (p = 0.001), and of previous dental treatment for the tooth responsible for the infection (p = 0.03). The prevalent treatment during hospitalization combined intravenous antibiotics and extraction, with or without drainage (58.1%) for group A; and intravenous antibiotics and drainage (49.4%) for group B (p < 0.01). Dental care provided by the Israel's National Health Insurance should focus not only on operative treatment but also on oral health promotion and caries prevention, to reduce hospitalizations due to dentoalveolar infections.


Assuntos
Hospitalização , Programas Nacionais de Saúde , Humanos , Criança , Recém-Nascido , Lactente , Pré-Escolar , Adolescente , Estudos Retrospectivos , Prontuários Médicos , Antibacterianos/uso terapêutico
3.
Arch Oral Biol ; 132: 105292, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34743803

RESUMO

OBJECTIVE: To describe two maxillary deciduous bi-rooted canines, one archeological and one modern, and examine the possible etiology of this condition. DESIGN: Two cases of bi-rooted canines were described and compared to published examples. Both specimens were radiographed and measured and compared to one-rooted samples. The archeological specimen was scanned using CBCT to facilitate detailed examination of the deciduous teeth. The extracted modern tooth was embedded in epoxy resin and two coronal sections were cut, one through the crown and one through the roots and examined with a light microscope. RESULTS: The bi-rooted canines were larger than the control samples. They showed none of the features commonly associated with gemination. The radiographs and scans showed that the canine roots in the archeological case diverged mesio-distally like the buccal roots in the adjacent first deciduous molar. In the clinical case, the root trunk was elongated mesio-distally and the furcation was located very close to the apex with a C-shaped root canal. CONCLUSIONS: Both variants of the condition described above are rare in deciduous canines. They do not seem to be associated with fusion or gemination. However, as the teeth are relatively flattened bucco-lingually and we tentatively propose that this form results from spatial constraints during the early stages of crown development that have contributed to the development of additional roots. The megadont dimension of the recent bi-rooted deciduous canine may affect root development and the necessity of two mesio-distally located roots for anchorage in the maxilla.


Assuntos
Dente Canino , Raiz Dentária , Dente Canino/diagnóstico por imagem , Maxila/diagnóstico por imagem , Odontogênese , Coroa do Dente , Raiz Dentária/diagnóstico por imagem , Dente Decíduo
4.
Clin Oral Investig ; 25(3): 833-839, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32483679

RESUMO

AIMS: The objective of this study is to compare size, enamel thickness and ion relative concentration in generalized megadontia (Ekman- Westborg and Julin trait) and a localized megadont upper third molar to normal teeth. MATERIALS AND METHODS: The MD dimensions of permanent teeth were compared to controls. Tooth components of molars were measured from X-rays and compared to controls. The enamel and dentin relative amounts of elements of mandibular first permanent molar and deciduous canines of E-WJ trait girl, and megadont upper third molar were determined using ESD program of SEM and compared to match-paired normal teeth. RESULTS: The teeth of the girl diagnosed with E-WJ trait were true megadont (larger than mean ± 2SD). The ratio of enamel thickness to M-D dimension of molars of E-WJ trait and localized megadontia molars is reduced in comparison with normal similar teeth. In the enamel, carbon and silica concentrations were different in E-WJ trait teeth. CONCLUSIONS: The enamel thickness was reduced in the E-WJ trait and megadont molars, but the relative amount of elements in enamel and dentin was similar to normal. The megadontia is due to a very large tooth germ, as determined by the DEJ, while the ratio of enamel apposition from the total M-D dimension is reduced. CLINICAL RELEVANCE: Generalized megadontia, as observed in E-WJ trait, is due to large tooth germ, but the enamel thickness is similar to normal. Extractions of permanent teeth are necessary in order to allow normal eruption of teeth.


Assuntos
Anormalidades Dentárias , Dente , Esmalte Dentário , Dentina , Dentição Permanente , Feminino , Humanos , Dente Molar , Dente Decíduo
5.
Spec Care Dentist ; 40(6): 574-579, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32881030

RESUMO

AIMS: To analyze the mineralization and ion content in deciduous, permanent teeth of Angelman syndrome in comparison to match-paired teeth from normal children. METHODS: Three deciduous teeth and a third molar and a mesiodens extracted during routine dental treatment and their match-paired normal teeth were examined using energy dispersive X-ray spectrometer program under a scanning electron microscope. RESULTS: The morphology of the enamel and dentin of Angelman syndrome (AS) teeth was similar to normal but the thickness of the enamel of deciduous canine and permanent teeth was reduced. The most marked differences were found in the enamel-in AS teeth, the enamel contained nitrogen in concentrations similar to dentin, implicating that the protein content of the enamel is different from normal teeth where nitrogen is absent. CONCLUSIONS: AS affects morphology and mineralization of enamel. It caused hypoplastic enamel and abnormal protein content in comparison to match-paired normal teeth. These findings show that AS also affects odontogenesis in addition to the known oral motor challenges.


Assuntos
Síndrome de Angelman , Dente , Criança , Esmalte Dentário , Dentina , Dentição Permanente , Humanos
6.
Quintessence Int ; 51(6): 440-446, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32253393

RESUMO

OBJECTIVES: To compare the microhardness and ion content of three glass-ionomer cements (GICs) during setting and up to 15 days, to composite resin-based material in vitro, and after 5 to 10 years in vivo. METHOD AND MATERIALS: Disks of three GICs, EQUIA Fil, Riva Self Cure, and Ketac Molar were examined in vitro for microhardness using Vickers indentations after 15 to 60 minutes, 24 hours, and 8 and 15 days, and compared to composite material, Spectrum. The ion content of the GIC and composite was analyzed using the energy dispersive spectroscopy program of a scanning electron microscope. A primary second molar restored with GIC normally exfoliated after 5 years, and a third molar restored with GIC extracted due to periodontitis after 10 years, were sliced through the restoration buccolingually, and the microhardness of the restoration and of the dentin was measured. RESULTS: In comparison to composite material, the Vickers value for the GICs were similar or better after 24 hours to 15 days. The amount of fluorine was three times higher in EQUIA Fil and Riva Self Cure in comparison with Ketac Molar, after 20 days. After 5 years in vivo, the microhardness of GICs was similar to dentin and after 10 years it was significantly higher than that of the dentin. CONCLUSION: The microhardness of GICs was comparable to composite material after only 24 hours. In vivo the microhardness of GICs increased and after 10 years in vivo it was higher than that of the dentin. After 20 days the amount of fluorine was still high in Riva Self Cure and EQUIA Fil.


Assuntos
Resinas Compostas , Cimentos de Ionômeros de Vidro , Dentina , Fluoretos , Teste de Materiais , Cimentos de Resina , Dente Decíduo
7.
J Clin Pediatr Dent ; 44(1): 47-51, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31995417

RESUMO

Objective: The present study compared the mineral contents of enamel and dentin of primary teeth from children exposed to desalinated water with those from children drinking ground water. Study design: The study comprised of two groups of teeth, seven primary teeth from children living in areas supplied exclusively with desalinated water and seven primary teeth from children that have been exposed solely to ground water from in-utero until the teeth were either extracted or naturally shed. Mineral content of three tooth regions was determined by scanning electron microscopy with an energy dispersive X-ray spectrometer (EDS). The main ion content of each region was calculated. Results: Children exposed to ground water presented higher levels of magnesium in pre- and post- natal enamel than children living in areas supplied exclusively with desalinated water but without significant differences. The same was found for calcium levels. Excluding post-natal enamel calcium level (of borderline statistical significance), no significant differences were found in magnesium and calcium levels of primary teeth enamel and dentin of children exposed to desalinated water in comparison to children exposed to ground water. Conclusion: Mineral content of enamel and dentin in primary teeth is not affected by consuming desalinated water.


Assuntos
Cálcio , Magnésio , Criança , Esmalte Dentário , Dentina , Humanos , Minerais , Dente Decíduo
8.
Arch Oral Biol ; 104: 119-122, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31181410

RESUMO

OBJECTIVE: The aim of the study was to compare the neonatal line width as well as the composition of the pre-natal and post-natal enamel in deciduous teeth of children with cerebral palsy (CP) to deciduous teeth of healthy children. DESIGN: 58 extracted or normally exfoliated deciduous teeth were collected for the study, 29 teeth from children with cerebral palsy and 29 pair matched teeth from healthy children who served as controls. The teeth were cut along the bucco-lingual/palatal axis and polished up to a thickness of 50-100 microns. The sections were examined using a light microscope and scanning electron microscope (SEM). The neonatal line was identified in 25 teeth and measured in width and the enamel concentrations of calcium, phosphorus, silicon, magnesium, sodium, oxygen, and carbon were measured in the pre-natal and post-natal enamel using ESD program. RESULTS: The neonatal line was significantly narrower in the deciduous teeth collected from children with cerebral palsy. In both groups, the concentration of magnesium and sodium in the pre-natal enamel was significantly higher than in the post-natal enamel. Magnesium and sodium levels were significantly higher in pre-natal enamel in the CP group compared to the pre-natal enamel of the control group. CONCLUSIONS: The neonatal line was narrower in the deciduous teeth collected from children with cerebral palsy than in those collected from healthy children. Children with cerebral palsy have a higher concentration of magnesium and sodium in the enamel that developed before birth.


Assuntos
Paralisia Cerebral , Esmalte Dentário , Paralisia Cerebral/complicações , Criança , Esmalte Dentário/anatomia & histologia , Esmalte Dentário/química , Humanos , Recém-Nascido , Magnésio/análise , Fósforo , Polônia , Sódio/análise , Dente Decíduo
9.
Arch Oral Biol ; 97: 97-101, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30368203

RESUMO

OBJECTIVE: To determine the cause of a large dental lesion, tentatively identified as a case of pre-eruptive intra-coronal resorption (PEIR), in the permanent second mandibular molar of a young individual from an Iron Age cemetery at Tel Erani (Israel), dated to ca. 3000 years B.P. The provisional diagnosis was based on the massive size of the lesion in a young individual in whom the adjacent teeth were caries-free and showed no visible enamel defects. DESIGN: The lower molars of Tel Erani on the affected side were radiographed and compared to radiographs of a modern clinical case of PEIR treated by one of us (U.Z) and the internal structure and mineral content of the lesion examined in detail using energy-dispersive X-ray spectroscopy (EDS). RESULTS: The Tel Erani specimen closely resembled the modern clinical case of PEIR. Moreover, both cases occurred in young individuals in whom the adjacent teeth were caries-free. Examination with SEM revealed absence of dentine in the affected tooth from Tel Erani, together with changes in structure and mineral content characteristic of resorption. CONCLUSIONS: Our study shows that the changes found in the lower second molar of the 3000 year old mandible from Tel Erani are characteristic of PEIR and demonstrate the antiquity of this condition.


Assuntos
Reabsorção de Dente/diagnóstico por imagem , Dente não Erupcionado/diagnóstico por imagem , História Antiga , Humanos , Israel , Mandíbula , Dente Molar , Paleodontologia , Espectrometria por Raios X
10.
Cranio ; 36(6): 404-407, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28675961

RESUMO

OBJECTIVE: Patients with Myasthenia gravis (MG) are characterized by muscle weakness that may cause obstructive sleep apnea (OSA). The use of a continuous positive airway pressure (CPAP) device is often needed in order to maintain free breathing during the night and sometimes even during the day. CLINICAL PRESENTATION: A 29-year-old MG patient is presented who used a CPAP continuously since the age of 12. Tight fitting of a nasal mask applied enough force to cause severe maxillary deformity. CLINICAL RELEVANCE: Masks with additional forehead and chin support or a regular full face mask are recommended for patients with muscle weakness, in order to spread forces more evenly.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas/efeitos adversos , Pressão Positiva Contínua nas Vias Aéreas/instrumentação , Maxila/anormalidades , Doenças Maxilares/etiologia , Miastenia Gravis/complicações , Apneia Obstrutiva do Sono/etiologia , Apneia Obstrutiva do Sono/terapia , Adulto , Humanos , Masculino , Debilidade Muscular/etiologia
11.
Quintessence Int ; 48(8): 639-645, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28681043

RESUMO

OBJECTIVE: In this review article, the role of the dentist in the evaluation and treatment of snoring and Obstructive Sleep Apnea Syndrome (OSAS) in children is described. Snoring and OSAS in children is receiving increased awareness, with reported rates approximating 10% of children who regularly snore, and up to 4% who suffer from OSAS. OSAS in children may have serious developmental and behavioral consequences. Apnea Hypopnea Index (AHI) is the main outcome of the polysomnography test, but its diagnostic values differ from children to adults, as do treatment approaches. DATA SOURCES AND STUDY SELECTION: A comprehensive literature search of publications from 1973 to 2017 in the PubMed Direct databases was performed to collect information about snoring and OSAS in children. The search was limited to peer-reviewed articles written in English with a few exceptions in other languages. CONCLUSION: Dentists play a significant role in early detection of OSAS, helping in reducing and preventing its serious consequences. A multidisciplinary treatment team, which manages and treats OSAS, should include the dentist in addition to the sleep specialist and the ENT physician.


Assuntos
Assistência Odontológica para Crianças/métodos , Padrões de Prática Odontológica , Papel Profissional , Síndromes da Apneia do Sono/diagnóstico , Síndromes da Apneia do Sono/terapia , Criança , Diagnóstico Precoce , Humanos , Equipe de Assistência ao Paciente/organização & administração , Medição de Risco
12.
Quintessence Int ; 48(8): 633-638, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28681046

RESUMO

OBJECTIVE: To explore the long-term in-vivo effect of different dental restorative materials on the surrounding enamel and dentin, in primary molars. METHOD AND MATERIALS: Sixteen naturally exfoliated primary molars restored with amalgam, compomer, and glass-ionomer cement were collected after 2 to 5 years of function in the mouth. Four intact molars served as control. The teeth were sliced buccolingually and the ion content in the restorative material, the enamel, and the dentin surrounding the restoration was determined using a scanning electron microscopy-energy dispersive x-ray spectroscopy (SEM-EDS) program. RESULTS: Amalgam released copper to the enamel and dentin causing a bluish discoloration. No traces of mercury or other ions were detected in the enamel or dentin. The enamel and dentin surrounding the restoration showed reduced inorganic components and increased organic components. The enamel and dentin surrounding the compomer restoration showed similar to amalgam reduction in inorganic components and increased organic components. Traces of fluoride, aluminum, and silicon were found. The enamel and dentin of teeth restored with glass-ionomer cement showed the least reduction in inorganic components, with higher fluoride content and traces of aluminum, silicon, and strontium. CONCLUSION: This long-term in-vivo study showed release of copper ions from amalgam material to the enamel and dentin, but no traces of mercury. Amalgam and compomers showed no remineralization effect on the dentin surrounding the restoration. Glass-ionomer restorations showed remineralization effect on the tooth components and migration of inorganic ions from the enamel and dentin to the material.


Assuntos
Esmalte Dentário/efeitos dos fármacos , Materiais Dentários/química , Restauração Dentária Permanente/métodos , Dentina/efeitos dos fármacos , Dente Molar , Dente Decíduo , Compômeros/química , Resinas Compostas/química , Amálgama Dentário/química , Cimentos de Ionômeros de Vidro/química , Teste de Materiais , Microscopia Eletrônica de Varredura , Estudos Retrospectivos , Espectrometria por Raios X , Propriedades de Superfície , Fatores de Tempo
13.
Int J Clin Pediatr Dent ; 10(1): 99-102, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28377664

RESUMO

Hidden caries is a dentinal lesion beneath the dentinoenamel junction, visible on radiographs. A single report described this lesion in primary dentition. This case report describes a case of hidden caries in a mandibular second primary molar, misdiagnosed as malignant swelling. A 3-year-old white girl was referred to the Department of Pediatric Dentistry with a chief complaint of pain and extraoral swelling on the right side of the mandible for the last 3 months. She was earlier referred to the surgical department for biopsy of the lesion. Radiographic and computed tomography scan examination showed a periapical lesion with buccal plate resorption and radiolucency beneath the enamel on the mesial part of tooth 85. The tooth was extracted, and follow-up of 2 years showed normal development of tooth 45. The main problem is early detection and treatment, since the outer surface of enamel may appear intact on tactile examination. HOW TO CITE THIS ARTICLE: Gera A, Zilberman U. Diagnosis and Management of Hidden Caries in a Primary Molar Tooth. Int J Clin Pediatr Dent 2017;10(1):99-102.

14.
Clin Oral Investig ; 21(4): 1309-1313, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27312377

RESUMO

OBJECTIVES: The present study explored the histological and chemical effects of infantile thiamine deficiency (ITD) on enamel development through the examination of exfoliated deciduous teeth from a patient who had been fed during his first year of life with a thiamine-deficient milk substitute. MATERIALS AND METHODS: Ground sections derived from six exfoliated primary teeth were examined. Slices from a light microscope were photographed for histological analysis. We calculated the time when the amelogenesis insults occurred, and the data were cross-examined with the patient's medical history. We then measured the enamel content of calcium, phosphate, oxygen, carbon, and magnesium on two lines from the dentino-enamel junction (DEJ) to the outer surface using an energy dispersive X-ray spectrometer. RESULTS: Carbon (organic matter) concentration in postnatal enamel was 2.37 times higher in ITD, phosphate levels were lower, and magnesium and calcium levels tended to be higher in ITD teeth. CONCLUSION: Chemical and histological analysis enabled us to confirm that thiamine deficiency in infancy impaired postnatal amelogenesis and resulted in less calcified enamel with a higher level of organic matter. Higher postnatal enamel carbon and magnesium concentration found in ITD may derive from either impaired mineralization caused by disturbed cellular metabolism or indirect damage to the ameloblasts due to the physical condition. Ca/P mean ratio in ITD teeth was higher than the mean ratio in the control displaying a damaged mineralization process. CLINICAL RELEVANCE: This is probably the first description of infantile thiamine deficiency effect on amelogenesis resulting in less calcified enamel.


Assuntos
Amelogênese/efeitos dos fármacos , Esmalte Dentário/química , Dentina/química , Alimentos Infantis/análise , Deficiência de Tiamina/complicações , Dente Decíduo , Cálcio/análise , Criança , Humanos , Magnésio/análise , Masculino , Fosfatos/análise
15.
JIMD Rep ; 30: 95-101, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27344646

RESUMO

BACKGROUND: Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of metabolism due to reduced catalytic activity of the different sulfatase. Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and skin changes as in X-linked ichthyosis. The only organ that was not examined in MSD patients is the dentition. OBJECTIVES: To evaluate the effect of the metabolic error on dental development in a patient with the intermediate severe late-infantile form of MSD (S155P). METHODS: Histological and chemical study were performed on three deciduous and five permanent teeth from MSD patient and pair-matched normal patients. RESULTS: Tooth germ size and enamel thickness were reduced in both deciduous and permanent MSD teeth, and the scalloping feature of the DEJ was missing in MSD teeth causing enamel to break off from the dentin. The mineral components in the enamel and dentin were different. CONCLUSIONS: The metabolic error insults the teeth in the stage of organogenesis in both the deciduous and permanent dentition. The end result is teeth with very sharp cusp tips, thin hypomineralized enamel, and exposed dentin due to the break off of enamel. These findings are different from all other types of MPS syndromes.Clinically the phenotype of intermediate severe late-infantile form of MSD appeared during the third year of life. In children of parents that are carriers, we can diagnose the disease as early as birth using X-ray radiograph of the anterior upper region or as early as 6-8 months when the first deciduous tooth erupt and consider very early treatment to ameliorate the symptoms.

16.
Harefuah ; 155(8): 463-465, 2016 Aug.
Artigo em Hebraico | MEDLINE | ID: mdl-28530321

RESUMO

INTRODUCTION: Down syndrome presents dentists with several treatment problems due to hereditary olygodontia of permanent teeth, abnormal development of the midface causing small maxilla and class III occlusion, abnormal mineralization of teeth, reduced bone density and hypotony. The challenge of replacing missing permanent teeth was the trigger for the development of dental implants some 30 years ago. However, the abnormal development of jaw bones and the reverse occlusion caused concerns in the dental community regarding the possibility of using dental implants in Down syndrome patients. In 1999 the dental team of Barzilai Medical Center was the first to insert dental implants in a Down syndrome adolescent in order to replace 4 missing premolars. One implant was lost during the healing process, and the other 3 were followed for 15 years. One of the most important factors affecting implant success is gingival health. Periodontitis affects bone height and retention of the implant. Our patient was observed in the dental clinic every 3 months for the last 15 years for plaque and calculus control. The close follow-up and treatment kept the alveolar bone healthy and at the same height as at the beginning. This case report is unique since it is the first of its kind with a 15 year follow-up. Furthermore, it showed that frequent visits and control of gingival health keeps the bone healthy and at the same height as at the beginning.


Assuntos
Prótese Dentária Fixada por Implante , Síndrome de Down/fisiopatologia , Desenvolvimento Maxilofacial , Dente/fisiologia , Perda do Osso Alveolar , Implantes Dentários , Planejamento de Prótese Dentária , Falha de Restauração Dentária , Seguimentos , Humanos , Dente/crescimento & desenvolvimento
17.
Arch Oral Biol ; 60(6): 919-22, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25827751

RESUMO

OBJECTIVE: To relate the peculiar phenotype of amelogenesis imperfecta in a large Bedouin family to the genotype determined by whole genome linkage analysis. DESIGN: Amelogenesis imperfecta (AI) is a broad group of inherited pathologies affecting enamel formation, characterized by variability in phenotypes, causing mutations and modes of inheritance. Autosomal recessive or compound heterozygous mutations in FAM20A, encoding sequence similarity 20, member A, have been shown to cause several AI phenotypes. Five members from a large consanguineous Bedouin family presented with hypoplastic amelogenesis imperfecta with unerupted and resorbed permanent molars. Following Soroka Medical Center IRB approval and informed consent, blood samples were obtained from six affected offspring, five obligatory carriers and two unaffected siblings. Whole genome linkage analysis was performed followed by Sanger sequencing of FAM20A. RESULTS: The sequencing unravelled a novel homozygous deletion mutation in exon 11 (c.1523delC), predicted to insert a premature stop codon (p.Thr508Lysfs*6). CONCLUSIONS: We provide an interesting case of novel mutation in this rare disorder, in which the affected kindred is unique in the large number of family members sharing a similar phenotype.


Assuntos
Amelogênese Imperfeita/genética , Proteínas do Esmalte Dentário/genética , Adolescente , Consanguinidade , Éxons , Feminino , Genótipo , Homozigoto , Humanos , Israel , Linhagem , Fenótipo , Reação em Cadeia da Polimerase
18.
Open Dent J ; 8: 13-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24624238

RESUMO

OBJECTIVE: Re-examining the well accepted concept that Zinc-Oxide-Eugenol bases (ZOE) have a negative effect on composite restoration materials microhardness, in light of the advancement in composite materials and newer publications. METHODS: Five modern composite restoration materials were used, including hybrid (Xtra-fill and Z250), micro-fill hybrid (G-aenial and Gradia-direct) and methacrylate-free restorative material (Silorane- oxirane). Two base materials were used IRM (ZOE-base) and Fuji-IX (GI-base). Samples were made using a designed mold, in which composite discs were cured on top and in close relation to base materials. Micro-hardness testing was performed using a DMH-2 microhardness tester utilizing the Knoop method. RESULTS: Statistic analysis demonstrated significantly better microhardness of three composite materials when IRM was used as base in comparison to control (G-aenial, Gradia direct and Filtek silorane), and no differences in two materials (Filtek universal Z250 and Voco Xtra-fil). Fuji-IX bases showed a significant positive effect on the microhardness of four composite materials, and a negative effect on one material (Voco Xtra-fill). In comparison with other tested restoration materials, both Voco Xtra-fill and Fuji-IX showed higher microhardness results (P<0.05). SIGNIFICANCE: Related to microhardness, both ZOE and GI bases can be used safely as bases under composite restorations. The results of this study together with the results published recently showed that the concept of not using ZOE or GI bases under composite must be reconsidered. Fuji IX showed microhardness results similar to the best composite material and therefore it can be used as a restorative material.

19.
Open Dent J ; 8: 220-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25553140

RESUMO

Very few modalities can be used for restoring missing primary anterior teeth, although the impact of missing anterior teeth during early childhood can be harmful. In the permanent dentition the use of glass-fibers ribbon and composite materials are frequently used for restoring missing teeth with no or minimal preparation. The purpose of this study was to examine the possibility to use the glass-fibers ribbon (ever-Stick from GC Corporation, Japan) together with esthetic composite materials (G-aenial A1 from GC Corporation, Japan) for restoring anterior primary teeth and to determine the best methodology and bonding system to be used. The effect of etching time was analyzed using 20-80 sec on primary buccal enamel with SEM and the results showed that at least 60 second is necessary in order to remove the prismless layer and to affect the prismatic layer similar (as observed by SEM) to the 20 sec etching time on permanent enamel. Three bonding systems (SE Bond by Kurary, Japan, Scotchbond Universal by 3M/ESPE, Germany and G-aenial bond by GC Company, Japan) were compared for bonding the glass-fibers ribbon to the primary enamel and microtensile strength analyses were performed. Mean tensile strength ranged from 10.9 to 13 MPa with no statistically significant differences between all three systems. Based on the laboratory results it can be concluded that the glass-fibers ribbon together with the composite material can be used clinically to restore missing primary teeth for esthetic and functional reasons. Two clinical cases are presented that show favorable results.

20.
Quintessence Int ; 42(7): 547-54, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21716982

RESUMO

OBJECTIVE: Radiographic appearance of pulp reactions to partial pulpotomy in young permanent molars with deep caries may determine the efficiency of the procedure. The objective of this study was to determine the value of this procedure by analyzing the pulpal and periapical appearance of permanent molars after long-term follow-up periods. METHOD AND MATERIALS: Based on predetermined radiologic criteria, periapical radiographs of 49 young permanent molars of 31 females and 13 males, aged 6.9 to 17.7 years (mean, 11.4 years) treated with partial pulpotomy were evaluated and compared to their antimeres. Follow-up time ranged from 7 to 154 months (mean, 49 months). RESULTS: Based on clinical and radiographic findings, the success rate was considered 93.9% (46 of 49 teeth). Three teeth had chronic pulpitis with periapical exacerbation. In 14 (30.4%) of the 46 teeth, normal radiographic pulp appearance was found, and in 2 (4.3%), pulpal calcifications were similar to their antimere tooth. Dentinal bridges were observed underneath the partial pulpotomy site in 27 molars (58.7%), while radiopacities in the pulpotomized pulp horns of 5 teeth (10.9%) suggested development of obstructive calcifications. Increased calcifications of the pulp were seen in 13 (28.3%) molars, in comparison with their antimeres. Six of the 46 molars with immature root development completed full apexogenesis. No periapical pathoses, total pulp obliteration, or resorption were observed. CONCLUSION: The long-term radiologic interpretation of the pulp after partial pulpotomy in young permanent molars supports the clinical impression that it is a warranted treatment in well-chosen cases.


Assuntos
Polpa Dentária/diagnóstico por imagem , Dente Molar/diagnóstico por imagem , Pulpotomia/métodos , Adolescente , Apexificação , Hidróxido de Cálcio/uso terapêutico , Criança , Cárie Dentária/terapia , Calcificações da Polpa Dentária/diagnóstico por imagem , Exposição da Polpa Dentária/terapia , Dentina Secundária/diagnóstico por imagem , Feminino , Seguimentos , Cimentos de Ionômeros de Vidro/uso terapêutico , Humanos , Estudos Longitudinais , Masculino , Metilmetacrilatos/uso terapêutico , Dente Molar/cirurgia , Odontogênese/fisiologia , Doenças Periapicais/diagnóstico por imagem , Tecido Periapical/diagnóstico por imagem , Pulpite/diagnóstico por imagem , Radiografia , Materiais Restauradores do Canal Radicular/uso terapêutico , Raiz Dentária/fisiologia , Resultado do Tratamento , Cimento de Óxido de Zinco e Eugenol/uso terapêutico
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