Caracterização de uma nova mutação com perda de função do gene Kmt2d em camundongos / Characterization of a new mutation with loss of function in the Kmt2d gene in mice

O camundongo mutante recessivo bate-palmas (bapa) originou-se de mutagênese química induzida por ENU (N-ethyl-N-nitrosourea) e apresenta alterações posturais com movimentos anormais dos membros posteriores quando levantado pela cauda. No sequenciamento do exoma identificou-se uma mutação no gene Kmt2d, localizado no cromossomo 15, que foi confirmada pelo sequenciamento do DNA pelo método de Sanger. A perda da função do gene KMT2D localizada no cromossomo 12 em humanos foi descrita como responsável pela síndrome de Kabuki, que é uma anomalia congênita rara, autossômica dominante. O fenótipo clínico da doença é variável, mas algumas características mais comuns são face dismórfica, anormalidades esqueléticas, alterações nas impressões digitais, leve a moderado retardo mental e retardo do crescimento pós-natal. O presente trabalho teve como objetivo a análise do comportamento e da morfologia craniofacial dos camundongos bapa comparando com modelos de mutação do gene Kmt2d descritos na literatura.

The recessive mutant mouse named bate-palmas (bapa) – claps in Portuguese, originates from an ENU (N-ethyl-N-nitrosourea) mutagenesis program, presenting balance impairment and motor incoordination. Exome sequencing identified a mutation in the KMT2D gene, located on chromosome 15, which was confirmed by DNA sequence by the Sanger method. The loss of function of the gene KMT2D, located on chromosome 12 in humans, was described as being responsible for Kabuki syndrome, also known as Niikawa-Koruki syndrome, which is a rare congenital anomaly, autosomal dominant. The clinical phenotype of the disease is variable, but some common characteristics are dysmorphic facial features, skeletal abnormalities, fingerprint alterations, mild to moderate cognitive problems and postnatal growth retardation. The objective os this study was to analyze the behavior and craniofacial morphology of bapa mice comparing to KMT2D gene mutation models described on literature.

Caracterização de uma nova mutação com perda de função do gene Kmt2d em camundongos / Characterization of a new mutation with loss of function in the Kmt2d gene in mice

O camundongo mutante recessivo bate-palmas (bapa) originou-se de mutagênese química induzida por ENU (N-ethyl-N-nitrosourea) e apresenta alterações posturais com movimentos anormais dos membros posteriores quando levantado pela cauda. No sequenciamento do exoma identificou-se uma mutação no gene Kmt2d, localizado no cromossomo 15, que foi confirmada pelo sequenciamento do DNA pelo método de Sanger. A perda da função do gene KMT2D localizada no cromossomo 12 em humanos foi descrita como responsável pela síndrome de Kabuki, que é uma anomalia congênita rara, autossômica dominante. O fenótipo clínico da doença é variável, mas algumas características mais comuns são face dismórfica, anormalidades esqueléticas, alterações nas impressões digitais, leve a moderado retardo mental e retardo do crescimento pós-natal. O presente trabalho teve como objetivo a análise do comportamento e da morfologia craniofacial dos camundongos bapa comparando com modelos de mutação do gene Kmt2d descritos na literatura.(AU)

The recessive mutant mouse named bate-palmas (bapa) claps in Portuguese, originates from an ENU (N-ethyl-N-nitrosourea) mutagenesis program, presenting balance impairment and motor incoordination. Exome sequencing identified a mutation in the KMT2D gene, located on chromosome 15, which was confirmed by DNA sequence by the Sanger method. The loss of function of the gene KMT2D, located on chromosome 12 in humans, was described as being responsible for Kabuki syndrome, also known as Niikawa-Koruki syndrome, which is a rare congenital anomaly, autosomal dominant. The clinical phenotype of the disease is variable, but some common characteristics are dysmorphic facial features, skeletal abnormalities, fingerprint alterations, mild to moderate cognitive problems and postnatal growth retardation. The objective os this study was to analyze the behavior and craniofacial morphology of bapa mice comparing to KMT2D gene mutation models described on literature.(AU)

Utilização de métodos não invasivos de imagem para avaliação da regeneração óssea em falhas ósseas induzidas experimentalmente em III/IV metacarpianos de ovinos / Use of non-invasive imaging methods for evaluation of bone regeneration in bone defects induced experimentally in III/IV metacarpus of sheep

Background: The events involved in the process of bone regeneration of fractures are influenced by physiological factors and a number of techniques can be used to assess bone tissue. The radiographic examination (ER) is often used in clinical practice to evaluate the consolidation process. Ultrasound (US) allows evaluation of the fibrous callus, present in early stages of consolidation. Thermograph is method of evaluation for image, which allows you to estimate activity of some tissue. The aim of this study was to evaluate bone fill process, during 60 days, through thermograph, ultrasound and x-ray of ostectomy induced experimentally.Materials, Methods & Results: Six female Santa Inês breed ewes were subjected to unicortical ostectomy of seven millimeters in diameter, in the proximal region of the dorsum-medial surface of III/IV metacarpal, chosen randomly. The animals were submitted to radiographic evaluations, ultrasound and thermograph, prior to the surgery and during 60 days, in between 7, 14, 21, 28, 35, 42, 49 and 56 days postoperatively. The radiographic images were evaluated by examiners “blind” (two radiologists and two sonographers), that didnt know the postoperative day that the image member evaluated. The thermograph images were processed in program for measuring the average temperature in the region of bone gap, over time. The Friedman test was applied to assess the progression of the studied variables over the period of the experiment. Over the period of 60 days it was possible to observe the difference of fault, fill scores by radiographic examination and ultrasound examination (P < 0.001). The Wilcoxon test was applied to observer the differences in scores between the examiners over the period of the experiment. Statistically significant difference was observed between the evaluators of radiographic images from day 14, not being observed between by the evaluators of ultrasound images.[...](AU)

Utilização de métodos não invasivos de imagem para avaliação da regeneração óssea em falhas ósseas induzidas experimentalmente em III/IV metacarpianos de ovinos / Use of non-invasive imaging methods for evaluation of bone regeneration in bone defects induced experimentally in III/IV metacarpus of sheep

Background: The events involved in the process of bone regeneration of fractures are influenced by physiological factors and a number of techniques can be used to assess bone tissue. The radiographic examination (ER) is often used in clinical practice to evaluate the consolidation process. Ultrasound (US) allows evaluation of the fibrous callus, present in early stages of consolidation. Thermograph is method of evaluation for image, which allows you to estimate activity of some tissue. The aim of this study was to evaluate bone fill process, during 60 days, through thermograph, ultrasound and x-ray of ostectomy induced experimentally.Materials, Methods & Results: Six female Santa Inês breed ewes were subjected to unicortical ostectomy of seven millimeters in diameter, in the proximal region of the dorsum-medial surface of III/IV metacarpal, chosen randomly. The animals were submitted to radiographic evaluations, ultrasound and thermograph, prior to the surgery and during 60 days, in between 7, 14, 21, 28, 35, 42, 49 and 56 days postoperatively. The radiographic images were evaluated by examiners “blind” (two radiologists and two sonographers), that didn’t know the postoperative day that the image member evaluated. The thermograph images were processed in program for measuring the average temperature in the region of bone gap, over time. The Friedman test was applied to assess the progression of the studied variables over the period of the experiment. Over the period of 60 days it was possible to observe the difference of fault, fill scores by radiographic examination and ultrasound examination (P < 0.001). The Wilcoxon test was applied to observer the differences in scores between the examiners over the period of the experiment. Statistically significant difference was observed between the evaluators of radiographic images from day 14, not being observed between by the evaluators of ultrasound images.[...]