Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption

Objectives: Primary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite as a consequence of incomplete eruption of posterior teeth. Heterozygous mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been shown to cause PFE likely due to protein haploinsufficiency. To further expand on the mutational spectrum of PFE-associated mutations, we report here on the sequencing results of the PTH1R gene in 70 index PFE cases. Materials and methods: Sanger sequencing of the PTH1R coding exons and their immediate flanking intronic sequences was performed with DNA samples from 70 index PFE cases. Results: We identified a total of 30 unique variants, of which 12 were classified as pathogenic based on their deleterious consequences on PTH1R protein while 16 changes were characterized as unclassified variants with as yet unknown effects on disease pathology. The remaining two variants represent common polymorphisms. Conclusions: Our data significantly increase the number of presently known unique PFE-causing PTH1R mutations and provide a series of variants with unclear pathogenicity which will require further in vitro assaying to determine their effects on protein structure and function. Clinical relevance: Management of PTH1R-associated PFE is problematic, in particular when teeth are exposed to orthodontic force. Therefore, upon clinical suspicion of PFE, molecular DNA testing is indicated to support decision making for further treatment options. © 2013 Springer-Verlag Berlin Heidelberg.

Resistance training for explosive and maximal strength: Effects on early and late rate of force development

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Influence Analysis of Cleft Type and Supernumerary Teeth Eruption in the Prognosis of Bone Graft in Patients With Cleft Palate

Objective: The aim of this study was to investigate the influence of cleft type and supernumerary tooth eruption on the treatment of palatal clefts with alveolar bone grafts.Materials and Methods: In this article, medical records of 40 patients with palatal clefts and associated supernumerary teeth who were treated with alveolar bone grafting in the Hospital for Craniofacial Anomalies Rehabilitation were assessed. The patients were studied to assess the influence of supernumerary teeth and the cleft severity on the prognosis of the alveolar bone graft.Results: Forty medical records were included in the assessment. When the teeth in the cleft had an anatomic shape close to canine, we called them precanine. When they were very small or malformed, we called them anomalous lateral incisors. The teeth studied showed good prognoses and were more expressive in the preforaminal clefts (87.5%) than in the transforaminal ones (62.5%). Moreover, the transforaminal clefts presented a higher percentage in satisfactory and poor prognoses (37.5%). The authors found that supernumerary teeth influenced the maintenance of alveolar bone graft height and that transforaminal clefts presented a worse prognosis than preforaminal clefts.

Forced orthodontic eruption for augmentation of soft and hard tissue prior to implant placement

Forced orthodontic eruption (FOE) is a non-surgical treatment option that allows modifying the osseous and gingival topography. The aim of this article is to present a clinical case of a FOE, which resulted in an improvement of the amount of available bone and soft-tissues for implant site development. Patient was referred for treatment of mobility and unesthetic appearance of their maxillary incisors. Clinical and radiographic examination revealed inflamed gingival tissue, horizontal and vertical tooth mobility and interproximal angular bone defects. It was chosen a multidisciplinary treatment approach using FOE, tooth extraction, and immediate implant placement to achieve better esthetic results. The use of FOE, in periodontally compromised teeth, promoted the formation of a new bone and soft-tissue in a coronal direction, without additional surgical procedures, enabling an esthetic, and functional implant-supported restoration.

Seabather's eruption: report of fourteen cases

Seabather's eruption is a papulo-pruritic dermatitis caused by the nematocysts of the larvae of the jellyfish Linuche unguiculata retained in the clothing fibers. Previously reported in Brazil, this work describes fourteen cases that occurred in the State of Santa Catarina, in southern Brazil. The new cases observed over a short period of time (the first half of January, 2012), at the height of the summer season, should alert health teams to possible epidemics on the coast of the state of Santa Catarina.

Apoptosis and reduced microvascular density of the lamina propria during tooth eruption in rats

During tooth eruption, structural and functional changes must occur in the lamina propria to establish the eruptive pathway. In this study, we evaluate the structural changes that occur during lamina propria degradation and focus these efforts on apoptosis and microvascular density. Fragments of maxilla containing the first molars from 9-, 11-, 13- and 16-day-old rats were fixed, decalcified and embedded in paraffin. The immunohistochemical detection of vascular endothelial growth factor (VEGF), caspase-3 and MAC387 (macrophage marker), and the TUNEL method were applied to the histological molar sections. The numerical density of TUNEL-positive cells and VEGF-positive blood vessel profiles were also obtained. Data were statistically evaluated using a one-way anova with the post-hoc Kruskal-Wallis or Tukey test and a significance level of P ≤ 0.05. Fragments of maxilla were embedded in Araldite for analysis under transmission electron microscopy (TEM). TUNEL-positive structures, fibroblasts with strongly basophilic nuclei and macrophages were observed in the lamina propria at all ages. Using TEM, we identified processes of fibroblasts or macrophages surrounding partially apoptotic cells. We found a high number of apoptotic cells in 11-, 13- and 16-day-old rats. We observed VEGF-positive blood vessel profiles at all ages, but a significant decrease in the numerical density was found in 13- and 16-day-old rats compared with 9-day-old rats. Therefore, the establishment of the eruptive pathway during the mucosal penetration stage depends on cell death by apoptosis, the phagocytic activity of fibroblasts and macrophages, and a decrease in the microvasculature due to vascular cell death. These data point to the importance of vascular rearrangement and vascular neoformation during tooth eruption and the development of oral mucosa.

The surprising evolutionary history of South American deer

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Correlation between the fighting rates of REM sleep-deprived rats and susceptibility to the 'wild running' of audiogenic seizures

Sleep-deprived rats exhibit defensive fighting as well as explosive flights very similar to the wild-running of audiogenic seizures. In order to determine why sleep deprivation is a common factor that facilitates both panic and convulsive manifestations, the present study was undertaken to investigate whether rats that display sleep deprivation-induced fighting (SDIF) are the same as those that are susceptible to audiogenic wild-running (WR). Twenty-eight male adult Wistar rats were divided into two groups assigned to two e-sleep deprivation for 5 days and had their SDIF evaluated in social experimental schemes. In the first, 18 subjects were submitted to REM grouping. After 1 week for recovery, their susceptibility to WR was tested in an acoustic stimulation trial ( 104 dB, 200 Hz, 60 S). Rats that did not present WR received a lactate infusion and were tested again by acoustic stimulation 40 min later. In the second experimental scheme, 10 subjects were initially evaluated for WR susceptibility and the number of SDIF was recorded in social grouping after I week. Three categories of WR-susceptibility were determined: WR-sensitive rats, intermediate WR-sensitive rats and WR-insensitive rats. T'he number of SDIF in each category was significantly different and there was a high positive correlation (r=0.89; Spearman test) between the number of SDIF and the level of WR-susceptibility. We conclude that the reasons why sleep deprivation exerts facilitatory effects on both panic and convulsive manifestations are due to overlappings of neural pathways responsible for both behavioral patterns and for the property of sleep deprivation to increase neuronal excitability. (C) 2002 Elsevier B.V. B.V. All rights reserved.

Skin reactions to drugs

OBJECTIVE - To assess drug reactions and report the drugs involved and the most frequent types of skin reactions.METHODS - A retrospective and descriptive study. Data of inpatients at the Dermatology Ward with initial diagnosis of adverse drug reactions were evaluated from January 1999 to June 2004. Patients with confirmed diagnosis were included in the study based on clinical and histopathological criteria, after analysis of medical charts.RESULTS - Initial diagnosis of adverse drug reactions was confirmed in 121 patients. Forty-three patients were included in the study; 51.2% were females and 86% were caucasians. A total of 48,8% were on one drug only. Antibiotics were the most commonly used drug (20%) and accounted for 33% of the drug eruptions. The second group comprised anti-inflammatory drugs (16 7%), followed by anticonvulsants (13%), analgesic/antipyretic (13%.) agents. Skin eruption manifested as maculopapular exanthema in 41.9% patients, erythrodermia in 25.6%, and urticaria in 23.3%.CONCLUSION - Maculopapular exanthema was the main type of skin reaction triggered by use of drugs, and these reactions were most frequently caused by antibiotics.

A combination of clinical and microbiological management of generalized aggressive periodontitis in primary teeth. A case report

International Journal of Paediatric Dentistry 2012; 22: 310316 Background. Generalized aggressive periodontitis (GAP) in primary teeth is a rare periodontal disease that occurs during or soon after eruption of the primary teeth. An association with systemic diseases is a possibility. Case Report. A 4-year-old Brazilian girl presented with GAP involving the entire primary dentition. The patient and her parents and sister were subjected to microbiological testing to identify the microorganisms involved in the disease. The patient underwent tooth extraction to eradicate the disease and received a prosthesis for the restoration of masticatory function. After the permanent teeth erupted, fixed orthodontic appliances were place to restore dental arch form and occlusion. Conclusions. The results show the importance of an early diagnosis of GAP and of a multidisciplinary approach involving laboratory and clinical management to treat the disease and to restore masticatory function, providing a better quality of life for patients.

Histological evaluation of dog permanent teeth after traumatic intrusion of their primary predecessors

The aims of this study were to analyze the histomorphology of developing permanent teeth whose primary teeth had suffered traumatic intrusion, as well as to compare the influence of immediate extraction of the intruded tooth to passive re-eruption. Nine dogs from 45 to 50 days old were submitted to the intrusion of the maxillary central and lateral primary incisors using a force applicator adapted to the teeth incisal cuspids. The right side intruded teeth were kept in their sockets and the ones on the left side were extracted 30 min later. After a postoperatory periods of 30 and 60 days, four (group 1) and five (group 2) dogs, respectively, were killed by perfusion. The histological evaluations showed that, in group 1, alterations had occurred in the odontoblastic layer and deposition of the enamel matrix had taken place in some specimens while in group 2, a portion of non-mineralized matrix was observed. We concluded that the morphological changes were because of the immediate trauma of intrusion. No differences were found between the groups where the primary tooth was immediately extracted or left to passively re-erupt.

Interceptive Approach to Treatment of Impacted Maxillary Canines

Impaction of maxillary canines can be prevented by early intervention in the mixed dentition phase after the correct diagnosis of malocclusion, reducing the complexity of the treatment. This article reports the case of a 10-year-old patient who possessed impacted maxillary canines and, after early extraction of primary canines, had reestablished favorable permanent successors' eruption axis. This 5-year radiographic follow-up study with panoramic radiography shows that this can be used in practice and that an effective control strategy ensures the accuracy in the inclination of the impacted canines. Treatment success is related to early diagnosis and strategic interceptive treatment choice.

Molar Incisor Hypomineralization

Enamel defects are common alterations that can occur in both the primary or permanent dentition. A range of etiological factors related to this pathology can be found in the literature. Molar Incisor Hypomineralization (MIH) is a kind of enamel defect alteration that requires complex treatment solutions, and for this reason, it is of great clinical interest for dental practice. This article describes the management of a clinical case of MIH in a 7-year-old child. The different treatment options depending on the extension of the defect, the degree of tooth eruption and the hygiene and diet habits of the patient are also discussed.

A importância da interação entre odontopediatrias e pediatrias no manejo de dentes natais e neonatais

OBJETIVO: Apresentar revisão de literatura sobre dentes natais e neonatais, abordando características clínicas, fatores etiológicos, medidas terapêuticas e a importância do conhecimento desta anomalia, por odontopediatras e pediatras. FONTES DE DADOS: Foram selecionados os artigos mais relevantes sobre o tema, desde 1950 até 2006, pesquisados no Medline e na Bibliografia Brasileira em Odontologia (BBO), além de livros de pertinentes. SÍNTESE DOS DADOS: Os dentes natais e neonatais consistem em uma anomalia de erupção, sendo caracterizados por seu irrompimento na cavidade oral durante o período intra-uterino ou no primeiro mês de vida respectivamente, podendo fazer parte da dentição decídua normal ou supranumerária. Esses dentes, em geral, apresentam bordos cortantes e podem estar relacionados ao aparecimento de ulcerações na base da língua do bebê e/ou no seio materno, comprometendo a amamentação. A fraca implantação óssea desses dentes favorece sua grande mobilidade, tornando-se, assim, um fator de risco à sua aspiração ou deglutição pela criança. A abordagem terapêutica depende da dentição à qual pertence o dente e dos possíveis problemas que este pode causar à saúde da criança ou da mãe. CONCLUSÕES: O conhecimento sobre as características clínicas e os possíveis distúrbios aos quais os dentes natais e neonatais estão relacionados por odontopediatras e pediatras possibilita a interação necessária para o diagnóstico precoce e a abordagem integral da criança.