A study of the effect of changes in nasal tip prominence on the sense of anterior prominence of the upper lip / 口腔疾病防治

Objective@#The aim of this study was to investigate the effect of changes in nasal tip protrusion on the sense of upper lip protrusion in different populations and to provide a reference for the improvement of soft tissue beauty.@*Methods @# Informed consent and portrait authorization were obtained from the model. A female model whose face met the criteria was selected, and a 3D model of her was obtained using a 3D stereo camera. Based on the original model, ZBRUSH2019 software was used to simulate changes in nose tip protrusion. Then, 9 segments of facial dynamic rotation videos were produced, and an electronic questionnaire was created through a questionnaire website to evaluate the effect of different nose tip protrusions on perceived upper lip protrusion. Randomly selected orthodontic patients, orthodontics professionals and general adults completed the electronic questionnaire. In the questionnaire, a Visual Analog Scale was used to evaluate the perceived degree of protrusion of the upper lip. The higher the score, the more prominent the upper lip of the model in the image. The questionnaire data were statistically analyzed using a generalized linear mixed model. @*Results @#As the nasal tip position became progressively more retracted, the subjects' upper lip protrusion scores increased. Among male subjects, the results showed that the general population thought that the upper lip protrusion was higher than the patients did when the nasal tip protrusion was +6 mm and +4.5 mm (P = 0.023, P = 0.047). When the nasal tip protrusion was +6 mm, the scores of the general population were higher than those of the orthodontics professionals (P = 0.023). However, when the nasal tip variable was -6 mm, their score was lower than that of the patients (P = 0.003), and there was no significant difference in other retest distances between groups (P>0.05).@*Conclusion @#When the protrusion of the nasal tip decreased, the three groups experienced a visual illusion of upper lip protrusion. When the nasal tip protrusion is too large, the general population perceived the visual illusion of the upper lip protrusion as being more obvious.

Advances in cardiac involvement in children with Duchenne muscular dystrophy / 国际儿科学杂志

Duchenne muscular dystrophy(DMD)is an X-linked recessive muscular disorder that affects mainly males.With its low incidence, insidious onset, and rapid progression, DMD is characterized by proximal muscle weakness, gastrocnemius hypertrophy, and markedly elevated serum creatine kinase.In addition to severe motor dysfunction, it also causes cardiac involvement in children, mainly manifested as dilated cardiomyopathy and arrhythmias.The mutations of DMD gene lead to the absence of dystrophin, which results in cytoskeletal defects and the impairment of the integrity of myocardial cell membrane.Meanwhile, calcium overload makes the myocytes more susceptible to damage.Exon deletion is the most common type of gene mutations in children with DMD, followed by point mutations, duplications and small insertion or deletion.The relationship among the clinical manifestations, pathogenesis, evaluation of cardiac damage in DMD and its genotype has not been clarified, which still needs further research and exploration, although some advances have been made recently.

Duchenne muscular dystrophy in a Filipino boy reaching adulthood, and nine years into oral corticosteroids: A case report

Rationale@#Duchenne muscular dystrophy (DMD) is a disease that primarily manifests in the early stages of life and progressively affects muscle strength resulting in quadriparesis and ultimately resulting in premature death secondary to cardiac or respiratory failure. DMD is the most common x-linked genetic disorder in children that is because of an alteration of a protein called “dystrophin” which is responsible for strengthening muscle fibers and protecting them from injury as muscles contract and relax. @*Objective@#To highlight the case of a 19-year-old male who was diagnosed with DMD at 8 years of age and treated with oral corticosteroid and rehabilitation. @*Case@#We present the case of a 19-year-old male who developed difficulty climbing stairs and was diagnosed with DMD at 8 years old with the use of clinical exome sequencing. Corticosteroid therapy was initiated and rehabilitation perpetuated which dramatically improved his life expectancy. @*Discussion and Summary@#Clinical exome sequencing was employed on our patient to confirm the diagnosis of DMD from other neuromuscular and neurodegenerative diseases. Most cases of DMD succumb to cardiopulmonary arrest before reaching adulthood; however, this case exemplifies DMD from other cases since our patient was able to prolong his life with continuation of oral corticosteroid and rehabilitation and in the absence of extensive life support.

Duchenne muscular dystrophy: case series of rare inherited muscular disorder

Duchenne muscular dystrophy (DMD) is a rare muscular disordercaused by mutation of gene encoding dystrophin protein which required for maintaining muscle stability during contraction. DMD occurs in 1 in 5000 male live births and characterized by progressive muscular weakness associated with motor development delay, loss of independent ambulation, respiratory failure, and cardiomyopathy. We present a case series of 3 DMD patients who were diagnosed at Prof. dr. I.G.N.G. Ngoerah general hospital,Denpasar over a period of four years (2019-2022). Clinical manifestation of patients includes progressive weakness of lower extremities and difficulty to stand up from sitting position. Physical examination revealed pseudohypertrophy of calf, winged scapula, positive Gower抯 sign, and waddling gait in all three cases. Supporting examination showed an increase of alanine transaminaseand aspartate transaminase5.6 times and 6.1 times the upper limit of normal, respectively. Definitive diagnosis of all patient was made based on immunohistochemistry staining which revealed an absent of dystrophin protein around muscle membrane

Research progress of therapeutic methods to restore dystrophin expression in Duchenne muscular dystrophy / 中华神经科杂志

Duchenne muscular dystrophy (DMD) is a serious and progressive hereditary muscle disease. The DMD gene mutation on the X chromosome causes the loss of dystrophin, causing progressive muscle weakness and muscular atrophy. Most patients die for heart and lung failure. Current gene therapy methods are mainly aimed at restoring the expression of dystrophin, including read-through therapy, exon skipping therapy, vector-mediated gene replacement therapy and gene editing therapy. This article reviews the mechanisms of these different treatments and important advances in clinical research, and analyzes the challenges and application prospects of these treatments.

Recent treatment and evaluation of progressive muscular dystrophy / 国际儿科学杂志

Progressive muscular dystrophy (PMD) mainly includes Duchenne and Becker muscular dystrophy (DMD/BMD),which are common muscular dystrophy diseases in childhood.DMD is the most common disease with poor prognosis.In order to prolong patient's life span,it is necessary to effectively manage their physical condition and complications.So far,there is no cure for muscular dystrophy,but early diagnosis,systematic treatment,combined with rehabilitation training,.more comprehensive and targeted evaluation measures can effectively improve the patient's body dysfunction and prolong the natural course of disease.The purpose of this review is to summarize and introduce the latest diagnostic,therapeutic schemes,evaluation methods of DMD,so as to provide more systematic therapeutic ideas and detailed evaluation schemes for medical workers.

Three-dimensional analysis of nasolabial soft tissues while smiling using stereophotogrammetry (3dMDTM) / Análisis tridimensional de los tejidos blandos nasolabiales en sonrisa utilizando estereofotogrametría (3dMDTM)

SUMMARY: The nasolabial region is the central esthetic unit of the face and is considered one of the most important determinants of the facial esthetic. The facial morphometry of soft tissues is a very important tool in facial surgery. Advances have been made recently in the capture and analysis of 3D images, which offer great development potential in the diagnosis and treatment of facial deformities. The aim of this study was to characterize the nasolabial region of patient candidates for orthognathic surgery using 3D facial captures. A study was conducted to characterize the width of the nasal base and the nasolabial angle in adult patients through 3D photographs. 30 subjects were included, taking two 3D photos each, one in a resting position and the other smiling. The three-dimensional capture was done with the 3dMDface System. The measurements were taken with the 3dMD Vultus software. The length of the alar base was an average of 34.3 ± 2.6 mm at rest, and 39.1 ± 2.9 mm smiling. The mean of the nasolabial angle was 104.6 ± 9.6° at rest and 105.4 ± 14.3º smiling. Additionally, the distance of the alar base smiling compared to its distance at rest increased an average of 4.83 mm, whereas the nasolabial angle smiling increased an average of 0.8º compared to at rest. In this study, the nasolabial angle did not present any significant changes so that its assessments in the case of facial modifications can be standard; the width of the nasal base is significantly modified with the smile and thus a more intense study of any type of modification in this area is required.

RESUMEN: La región nasolabial es la unidad estética central de la cara y se considera uno de los determinantes más importantes de la estética facial. La morfometría facial en tejidos bandos, es una herramienta de gran importancia en Cirugía Facial. En el último tiempo, se han realizado avances en captura y análisis de imágenes 3D, las cuales ofrecen un gran potencial de desarrollo en el diagnóstico y tratamiento de las deformidades faciales. El objetivo de éste trabajo fue caracterizar mediante capturas faciales 3D la región nasolabial de pacientes candidatos a cirugía ortognática. Se realizó un estudio para caracterizar a través de fotografías tridimensionales de pacientes adultos el ancho de la base nasal y el ángulo nasolabial. Se incluyeron 30 sujetos, tomando 2 fotografías 3D a cada uno, una en posición de reposo y otra en sonrisa. Se realizó la captura tridimensional con la camara facial 3dMDface System. Las mediciones fueron realizadas con el software 3dMD Vultus. La longitud de base alar en reposo, fue en promedio de 34,3 ± 2,6 mm, y de 39,1 ± 2,9 mm, en sonrisa. Por otra parte, la media del ángulo nasolabial en reposo fue de 104,6 ± 9,6° y en sonrisa, de 105,4 ± 14,3º. Por otro lado, la distancia de la base alar en sonrisa respecto a su distancia en reposo, aumentó un promedio de 4,83 mm, mientras que el ángulo nasolabial en sonrisa, aumentó en promedio 0,8º respecto a la posición de reposo. En esta investigación, el ángulo nasolabial no presentó cambios significativos de forma que su valoración frente a modificaciones faciales puede ser estándar; el ancho de base nasal se modifica significativamente con la sonrisa de forma que su estudio debe ser más agudo frente a cualquier tipo de modificación en esta zona.

Efficacy of repair of bilateral complete cleft lip and nasal deformity by 3dMD face system / 中华医学美学美容杂志

Objective To assess the effectiveness of the Mulliken's method in bilateral complete cleft lip patients with 3dMD system and anthropometric landmarks.Methods Thirty-one infants with bilateral complete cleft lip received treatment in Hospital of Stomatology,Wuhan University between January 2014 and December 2016.Patients underwent primary cheiloplasty and nasoplasty by the same senior surgeon.Periodic review was taken to measure and record the 7 items in the nasolabial area with three-dimensional (3D) images.Results The labial and nasal deformities were restored after primary surgery.The upper lip and nose were corrected and obtained the symmetric shape.The columella was elongated to acquire favorable nasal tip.The arc of nasal fornix was upward.The ridge of the white lipwas continuous and integrated with full vermilion tubercle.Total length of upper lip (Sn-Sto),thickness of the vermilion tubercle (Ls-Sto),protrusion of the nasal tip (Nh) and columellar height (Ch) were markedly improved and there were no significant difference between the observation group and the control group.The significant differences between two groups occurred in values of the nostril width (Nw),which was greater than control group and white lip height (Sn-Ls) and lower than that of control group.Conclusions Mulliken's method during the primary cheiloplasty of the bilateral complete cleft lip shows better results in correction the nasal deformity and the ideal effects are achieved during follow-up.

Comparative study of 3D facial photography with traditional photography / 实用口腔医学杂志

Objective: To investigate the clinical perspectives of 3dMD photography in orthodontics. Methods: 60 patients with skeletal Ⅰ malocclusion (30 males, 30 females, aged 18 to 35 years) were selected. Facial pictures of them were taken by 3dMD photography and traditional photography respectively, photographing time was recorded. Facial measurements' quality data were analyzed by SPSS 16. 0. Results: The photographing time of the 3dMD group and traditional photographic group was(14. 99 ± 1. 34) s and (45. 33 ± 7. 75) s respectively(P＜ 0. 05); there was no significant difference between the 2 groups in the quality scores. Conclusion: The clinical use of 3dMD in patients can save the operation time and can get similar by the use of results traditional radiography.

Targeting knockout of DMD gene exon51 in HEK293T cell based on CRISPR/Cas9 system / 基础医学与临床

Objective To knockout the exon51 of DMD gene in HEK293T cells using the CRISPR/Cas9 system. Methods Design the target sequences of sgRNA and clone them into plasmid PX459 respectively; transfer these plasmids into HEK293T cell and extract the total genome DNA; test the activity of sgRNAs with surveyor assay, choose the most efficient one in each end;construct plasmid PX459-2sgRNA and transfer it into HEK293T cells;check whether the exon51 has been knocked known with PCR and T vector sequencing. Results 50% of HEK293T cells' DMD gene exon51 were knocked out,showing a high gene editing efficiency. Conclusions We successfully establish a platform to target knockout the exon51 of DMD gene and provide an important experimental basis for the treatment of DMD and other genetic diseases.

Deletion and Duplication in the DMD Gene Detected by MLPA / 现代检验医学杂志

Objective To detect exon deletions/duplications in the DMD gene in Duchenne and Becker muscular dystrophy pedigrees using multiplex ligation-dependent probe amplification method,and explore the usefulness of multiplex ligation-dependent probe amplification analysis as a method for genetic diagnostics in patients with Duchenne and Becker muscular dystrophy.Methods Exon deletions/duplications in the DMD gene were analyzed by multiplex ligation-dependent probe amplification for two pedigrees with Duchenne muscular dystrophy and Becker muscular dystrophy.Patients and carriers were diagnosed by multiplex ligation-dependent probe amplification.Results The pedigree with Duchenne muscular dystrophy was caused by DelEx45-50 mutation,while the pedigree with Becker muscular dystrophy was caused by Dup Ex3-4 mutation.Patients and carriers were diagnosed by multiplex ligation-dependent probe amplification method.Conclusion Exon deletions/duplications in the DMD gene can be indicated by probe copies using multiplex ligation-dependent probe amplification method under standard operating procedure.Multiplex ligation-dependent probe amplification should be considered as a rapid and accurate clinical method for an initial mutation analysis of DMD gene with exon deletions/duplications.

3D measurements and comparison of facial soft tissue of Chinese Han male and female adults with normal occlusion / 实用口腔医学杂志

Objective:To study 3-dimensional facial soft tissue reference values of Chinese Han nationality adults with normal occlusion and explore the facial morphology differences between men and women.Methods:3dMD images from 30 men and 32 women of Han nationality,aged 18-35 years,with normal occlusion were analyzed and compared between the men and women on 19 linear distances,8 angular measurements and 10 linear distance ratios.Results:Linear distances concerning the width and height of facial and organic contours were larger in men(P<0.05),while the ratio of facial height to width were larger in women(P<0.05);the nasofrontal angle and nasal prominence angle were both smaller(P<0.05) but nasofacial angle were larger(P<0.05) in men than in women.Conclusion:The facial and organic contours are larger in men than in women.Men have wide-elliptical face while women have thin-elliptical one.The nose of men is more prominent than women.

Advances in the Pathogenic Research of Female Carriers with Symptomatic Duchenne Muscular Dystrophy / 现代生物医学进展

DMD/BMD is a X-linked recessive hereditary disease.It predominantly affects males.While female carriers do not have symptoms,due to their inactive X chromosome make it present mosaic.Recently,more and more papers reported that a clinically significant proportion of DMD/BMD female carriers have symptoms.They presented variable degrees of symptoms.But the mechanism of the pathogencity is still not clear.Most of the research considered that the dominating reason is the skewed X inactivation.It means that the predominant expression of the DMD mutant allele make the normal one have weak expression,thus no function dystrophin proteins could be generate,manifested as DMD/BMD.In this paper,we mainly summarized the relationship between skewed X inactivation and pathogenicity of the symptomatic DMD female carriers.

Noninvasive evaluation of respiratory muscles in pre-clinical model of Duchenne Muscular Dystrophy / Avaliação não invasiva dos músculos respiratórios no modelo pré-clinico da Distrofia Muscular de Duchenne

Since respiratory insufficiency is the main cause of death in patients affected by Duchenne Muscular Dystrophy (DMD), the present study aims at establishing a new non-invasive method to evaluate the clinical parameters of respiratory conditions of experimental models affected by DMD. With this purpose in mind, we evaluated the cardiorespiratory clinical conditions, the changes in the intercostal muscles, the diaphragmatic mobility, and the respiratory cycles in Golden Retriever Muscular Dystrophy (GRMD) employing ultrasonography (US). A control group consisting of dogs of the same race, but not affected by muscular dystrophy, were used in this study. The results showed that inspiration, expiration and plateau movements (diaphragm mobility) were lower in the affected group. Plateau phase in the affected group was practically non-existent and showed that the diaphragm remained in constant motion. Respiratory rate reached 15.5 per minute for affected group and 26.93 per minute for the control group. Expiration and inspiration movements of intercostal muscles reached 8.99mm and 8.79mm, respectively, for control group and 7.42mm and 7.40mm, respectively, for affected group. Methodology used in the present analysis proved to be viable for the follow-up and evaluation of the respiratory model in GRMD and may be adapted to other muscular dystrophy experimental models.

Uma vez que, a insuficiência respiratória é a principal causa de morte em pacientes afetados pela Distrofia Muscular de Duchenne (DMD), o presente estudo avaliou as condições clínicas cardiorrespiratórias, o movimento dos músculos intercostais, a mobilidade diafragmática, os ciclos respiratórios e a expansão da cavidade torácica em cães Golden Retriever com Distrofia Muscular (GRMD) por ultrassonografia (US) a fim de estabelecer um novo método não invasivo para avaliar os parâmetros de avaliação clínica de doenças respiratórias de modelos experimentais afetados por DMD. Um grupo controle constituído por cães da mesma raça e espécie, mas não afetados pela distrofia muscular também foram utilizados neste estudo. Os resultados mostraram que os movimentos de inspiração, expiração e platô (mobilidade do diafragma) foram menores no grupo afetado. A fase de platô no grupo afetado foi praticamente inexistente e mostrou que o diafragma destes animais permaneceu em constante movimento. A frequência respiratória atingiu 15,5 por minuto para o grupo afetado e 26,93 para o controle. Movimento de expiração e inspiração dos músculos intercostais atingiu 8,99 milímetros e 8,79 milímetros, respectivamente para o grupo controle e 7,42 milímetros e 7,40 milímetros, respectivamente para o grupo afetado. A metodologia utilizada nesta análise foi viável para o acompanhamento e avaliação do modelo respiratória em modelo GRMD e pode ser adaptado para outros modelos experimentais de distrofia muscular.

Technological Tools for Observational Evaluation - the Experience with the Software for Functional Evaluation Scale for Duchenne Muscular Dystrophy – A Pilot Study Software for Observational Evaluation.

Systematic observation is an indispensable tool in clinical neurology evaluation, but data organization and record are extensive and time-consuming, requiring method and training. Reliable scales facilitate this task and technology can be decisive in the implementation of observational data routines. In this study, we aimed to show the experience of a software development to optimize the application of a clinical observational scale. For this proposal it was necessary to consider the needs of the target population, text and image storing and reports generation, using computers with basic configuration, questionnaires and the measurement of time. The software allowed significant reduction in evaluation time and favored the cost-benefit of the task. The proposed methodology was adequate for this type of study.

Novel Non-contiguous Duplications in the DMD Gene in Five Patients with Duchenne Muscular Dystrophy

BACKGROUND: Muscular dystrophy is an X-linked recessive disorder caused by mutations in the DMD gene. Muscular dystrophy is classified into 2 types; Duchenne muscular dystrophy (DMD), which has severe clinical symptoms, and Becker muscular dystrophy (BMD), which has much milder clinical symptoms. Phenotypic progression to either DMD or BMD can be predicted by analyzing mutations in DMD by using the reading frame rule. METHODS: Of 88 patients with mutations in DMD, which were detected using Multiplex Ligation-dependent Probe Amplification DMD test kit (MRC-Holland, The Netherlands), medical records of 5 patients with non-contiguous duplications were reviewed. These rare non-contiguous duplications in DMD were compared with those reported previously. RESULTS: We identified 3 novel non-contiguous duplications in DMD that included exons 2-7 and 45-51, exons 5-37 and 50-59, and exons 52-53 and 56-61. The 5 patients with these non-contiguous duplications showed the phenotypic features of DMD. Especially, duplication of exons 52-53 and 56-61 was observed in a family, i.e., 2 DMD-affected brothers and their carrier mother. CONCLUSIONS: Prediction of phenotypes associated with complex non-contiguous duplications by using the reading frame rule is difficult because the duplications affect the expression of DMD together. Because most patients with non-contiguous duplications showed the phenotypic features of DMD, the reading frame rule should be interpreted cautiously. This study provides important insights on the non-contiguous duplications in DMD for understanding genotype-phenotype correlations and for developing dystrophin for therapeutic purposes.

Quantitative evaluation of the facial morphology of a Tolteca figurine from Mexico using geometric morphometric approaches / Evaluación cuantitativa de la morfología facial de una figura Tolteca de México utilizando la morfometría geométrica

Morphometric approaches can be combined with 2D or 3D imaging to quantitatively evaluate craniofacial medical conditions depicted in material culture and to learn more about the culture being studied. A terra-cotta figurine (circa 500 A.D.) from the Tolteca culture of Mexico has previously been qualitatively "diagnosed" with Down syndrome (DS) based on the presence or absence of facial features typically associated with trisomy 21. The purpose of this research is to quantitatively test the hypothesis that the Tolteca figurine exhibits facial features consistent with DS. Landmarks (n = 24) were acquired from sex- and age-matched (5-20 yrs) facial images of DS individuals (n = 32), euploid individuals (n = 32), and the Tolteca figurine. Landmark coordinates were subjected to geometric morphometric analyses, and the results suggest that the Tolteca figurine displays facial morphology consistent with DS.

Con el objetivo de evaluar cuantitativamente las complejas condiciones medicas craneofaciales, se pueden combinar los enfoques morfométricos con imágenes 2D o 3D representadas en la cultura material, para un mayor conocimiento referente al estudio cultural. Una figura de terracota (alrededor del 500 DC) de la cultura Tolteca de México ha sido previamente y cualitativamente "diagnosticada" con Síndrome de Down en base a la presencia o ausencia de rasgos faciales típicamente asociados con trisomía 21. El propósito de esta investigación fue comprobar cuantitativamente la hipótesis de que esta figura de la cultura Tolteca exhibe rasgos faciales consistentes con Síndrome de Down. Se identificaron puntos de referencia similares (n = 24) según sexo y edad (5-20 años) a imágenes faciales de individuos con Síndrome de Down (n = 32), individuos euploides (n = 32) y de la figura Tolteca. Los puntos de referencia fueron sometidos a un análisis morfométrico geométrico, y los resultados sugieren que la morfología facial de la figura Tolteca es consistente con el Síndrome de Down.

Padronização de parâmetros eletrocardiográficos de cães da raça Golden Retriever clinicamente sadios / Standardization of electrocardiographic parameters in healthy Golden Retrievers dogs

A distrofia muscular de Duchenne (DMD) em humanos é uma alteração neuromuscular hereditária, de caráter recessivo, ligada ao cromossomo X e causada pela ausência ou disfunção da distrofina. Clinicamente, caracteriza-se por grave alteração na musculatura esquelética, resultando em morte precoce do indivíduo acometido. Em cães da raça Golden Retriever, a mutação que leva à distrofia muscular ocorre espontaneamente e a extensa homologia entre a patogênese da DMD e da distrofia muscular do Golden Retriever permite qualificar o cão como o principal substituto de humanos nos testes clínicos de novas terapias. O miocárdio deficiente em distrofina é mais vulnerável à sobrecarga de pressão e os pacientes com DMD podem desenvolver cardiomiopatia dilatada, hipertensão arterial e o eletrocardiograma pode se apresentar distintamente anormal. No presente estudo, foram avaliados exames eletrocardiográficos de 38 cães da raça Golden Retriever clinicamente sadios (20 animais de até 12 meses de idade e 18 animais entre 12 e 36 meses de idade), com a finalidade de se obter parâmetros para a padronização do eletrocardiograma nessa referida raça, o que futuramente poderá servir de referência na identificação de cães portadores ou afetados pela distrofia muscular. Os valores eletrocardiográficos obtidos encontraram-se dentro dos valores de normalidade e referência para as diferentes raças de cães; e as variáveis peso e idade alteraram significativamente a freqüência cardíaca e a amplitude do complexo QRS.

The Duchenne's muscular dystrophy (DMD) in humans is a X-linked neuromuscular disease, of recessive character, caused either by the absence or dysfunction of the dystrophin. Clinically, it is characterized by severe alteration in the skeletal musculature, resulting in precocious death. In Golden Retriever dogs, the mutation that takes to the muscular dystrophy happens spontaneously and the extensive homology among the pathogenesis of DMD and of Golden Retriever muscular dystrophy allows to qualify the dog as the main substitute of humans in the clinical tests of new therapies. The deficient myocardium in distrofin is more vulnerable to the pressure overload and the patients with DMD can develop dilated cardiomyopathy, arterial hypertension and the electrocardiogram can come distinctly abnormal. In the present study, 38 healthy Golden Retriever dogs were evaluated by electrocardiographic exam with the purpose to obtain parameters for the standardization of the electrocardiogram in the referred breed, what hereafter can serve as reference in the identification of bearer or affected dogs. Electrocardiographic values obtained were within normal values and reference for the various breeds of dogs, and the variables weight and age significantly altered heart rate and amplitude of the QRS complex.

Quantitative Assessment of the T2 Relaxation Time of the Gluteus Muscles in Children with Duchenne Muscular Dystrophy: a Comparative Study Before and After Steroid Treatment

OBJECTIVE: To determine the feasibility of using T2 mapping as a quantitative method to longitudinally follow the disease activity in children with Duchenne muscular dystrophy (DMD) who are treated with steroids. MATERIALS AND METHODS: Eleven boys with DMD (age range: 5-14 years) underwent evaluation with the clinical functional score (CFS), and conventional pelvic MRI and T2 mapping before and during steroid therapy. The gluteus muscle inflammation and fatty infiltration were evaluated on conventional MRI. The histograms and mean T2 relaxation times were obtained from the T2 maps. The CFS, the conventional MRI findings and the T2 values were compared before and during steroid therapy. RESULTS: None of the patients showed interval change of their CFSs. On conventional MRI, none of the images showed muscle inflammation. During steroid treatment, two boys showed increased fatty infiltration on conventional MRI, and both had an increase of the mean T2 relaxation time (p < 0.05). The remaining nine boys had no increase in fatty infiltration. Of these, three showed an increased mean T2 relaxation time (p < 0.05), two showed no change and four showed a decreased mean T2 relaxation time (p < 0.05). CONCLUSION: T2 mapping is a feasible technique to evaluate the longitudinal muscle changes in those children who receive steroid therapy for DMD. The differences of the mean T2 relaxation time may reflect alterations in disease activity, and even when the conventional MRI and CFS remain stable.

Clinical Usefulness of Molecular Diagnosis in Dystrophin Gene Mutations Using the Multiplex Ligation-dependent Probe Amplification (MLPA) Method

BACKGROUND: Duchenne/Becker muscular dystrophy (DMD/BMD), which is the most common X-linked muscular dystrophy, is caused by mutations in the dystrophin gene. These mutations comprise deletions in approximately 55~65% of patients, duplications in 5~10%, and point mutations or small insertion/deletions in the remainder. Unfortunately, current diagnostic assays for dystrophin do not accurately detect duplication mutations or female carriers. In this study we employed multiplex ligation-dependent probe amplification (MLPA) analysis to detect deletions or duplications of the dystrophin gene in patients with DMD/BMD, and in potential female carriers. METHODS: A total of 41 subjects was recruited for this study, comprising 35 male DMD/BMD patients, 1 female patient with Turner syndrome, and 5 females with a family history of DMD/BMD. The MLPA method was employed to determine the copy number of each of the 79 exons of the dystrophin gene in the 41 subjects. RESULTS: MLPA analysis for dystrophin was informative in 71.4% (25/35) of patients with DMD/BMD patients, identifying deletions in 60.0% (21/35) and duplications in 11.4% (4/35). MLPA analysis showed the presence of a deletion of the DMD gene in one female patient with Turner syndrome. Of the five female patients with a family history of DMD/BMD, this assay revealed exon deletion in one and duplications in one. CONCLUSIONS: The reported findings reveal that the MLPA method is a powerful tool for detecting duplications and female carriers, as well as DMD gene deletions. MLPA should be considered the method of choice for an initial genetic analysis of DMD/BMD patients.