Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo

Hereditary myotonia caused by mutations in CLCN1 has been previously described in humans, goats, dogs, mice and horses. The goal of this study was to characterize the clinical, morphological and genetic features of hereditary myotonia in Murrah buffalo. Clinical and laboratory evaluations were performed on affected and normal animals. CLCN1 cDNA and the relevant genomic region from normal and affected animals were sequenced. The affected animals exhibited muscle hypertrophy and stiffness. Myotonic discharges were observed during EMG, and dystrophic changes were not present in skeletal muscle biopsies; the last 43 nucleotides of exon-3 of the CLCN1 mRNA were deleted. Cloning of the genomic fragment revealed that the exclusion of this exonic sequence was caused by aberrant splicing, which was associated with the presence of a synonymous SNP in exon-3 (c.396C>T). The mutant allele triggered the efficient use of an ectopic 5' splice donor site located at nucleotides 90-91 of exon-3. The predicted impact of this aberrant splicing event is the alteration of the CLCN1 translational reading frame, which results in the incorporation of 24 unrelated amino acids followed by a premature stop codon. Copyright © 2012 Elsevier B.V. All rights reserved.

Deproteinized bovine bone mineral particles and osseointegration of implants without primary bone contact: An experimental study in dogs

Objectives: To evaluate the influence on osseointegration of Deproteinized bovine bone mineral (DBBM) particles used to fill defects of at least 1 mm around implants having no primary contact with bone. Material and methods: Premolars and first molars were extracted bilaterally from the mandible of six Labrador dogs. After 3 months of healing, mucoperiosteal full-thickness flaps were elevated, and one recipient site was prepared in the molar region of each hemi-mandible to place implants. These were installed with a deliberate circumferential and periapical space to the bone walls of 1.2 mm. All implants were stabilized with passive fixation plates to maintain the implants in situ and without any contact with the implant bed. The control sites were left to be filled with coagulum, while at the test sites, the residual gap was filled with DBBM. After 3 months of submerged healing, the animals were sacrificed. Ground sections were prepared and analyzed histomorphometrically. Results: Mineralized bone-to-implant contact was 4.0% and 3.9% for control and test sites, respectively. The width of the residual defects was 0.48 mm and 0.88 mm at the control and test sites, respectively. The percentage of implant surface covered by a layer of dense connective tissue of 0.12 mm of width on average was 84.9% and 88.5% at the control and test sites, respectively. Conclusion: A minor and not predictable degree of contact or distance osteogenesis was obtained on the implant surface when primary contact of the implant surface with the implant bed had deliberately been avoided. DBBM grafting of the artificial gap did not favor osseointegration. Neither did it enhance the ability to bridge the gap with newly formed bone in an artificial defect wider than 1 mm. © 2013 John Wiley & Sons A/S.

Avaliação dos enxertos ósseos autógenos triturados manualmente ou coletados durante osteotomia: análise histológica e histométrica em coelhos

Pós-graduação em Odontologia - FOA

Análise das células inflamatórias e expressão da proteína anti-inflamatória anexina A1 em pacientes com endometriose

Pós-graduação em Genética - IBILCE

Avaliação de membrana experimental implantada em cavidade cirurgicamente confeccionada em calota craniana de coelhos: estudo histológico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo sobre o efeito do atenolol na mineralização de dentes e ossos de filhotes de ratas espontaneamente hipertensas (SHR) e normotensas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Distração osteogênica médio-sagital da mandíbula: avaliação em modelos de estudo

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

Osseointegração de implantes porosos de titânio submetidos ao tratamento biomimético

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo da viabilidade celular comparando os meios de conservação para enxerto ósseo de calota craniana: análise microscópica e imunoistoquímica em ratos

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Reparo alveolar após implante de vidro bioativo: avaliação histológica em macacos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Influência de três meios de armazenamento no processo de reparo do enxerto ósseo autógeno: análise histomorfométrica e imunoistoquímica em coelhos

Pós-graduação em Odontologia - FOA

Reparação inicial de enxertos ósseos autógenos em bloco ou em particulas: estudo microscópico em mandíbula de cães

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Implante de tecido prostático do cão na ostectomia parcial do rádio em coelhos

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Terapia de defeito crítico em crânio de ratos pela associação de xenoenxerto bovino e células derivadas de periósteo autógeno

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Síntese e caracterização de compósitos poli(fluoreto de vinilideno-trifluoretileno)/titanato de bário para uso em regeneração tecidual guiada

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)