RESUMO
Mitochondrial DNA depletion syndrome type 11 (MTDPS11) is caused by pathogenic variants in MGME1 gene. We report a woman, 40-year-old, who presented slow progressive drop eyelid at 11-year-old with, learning difficulty and frequent falls. Phisical examination revealed: mild scoliosis, elbow hyperextensibility, flat feet, chronic progressive external ophthalmoplegia with upper eyelid ptosis, diffuse hypotonia, and weakness of arm abduction and neck flexion. Investigation evidenced mild serum creatine kinase increase and glucose intolerance; second-degree atrioventricular block; mild mixed-type respiratory disorder and atrophy and granular appearance of the retinal pigment epithelium. Brain magnetic resonance showed cerebellar atrophy. Muscle biopsy was compatible with mitochondrial myopathy. Genetic panel revealed a homozygous pathogenic variant in the MGME1 gene, consistent with MTDPS11 (c.862C>T; p.Gln288*). This case of MTDPS11 can contribute to the phenotypic characterization of this ultra-rare mitochondrial disorder, presenting milder respiratory and nutritional involvement than the previously reported cases, with possible additional features.
Assuntos
DNA Mitocondrial , Oftalmoplegia Externa Progressiva Crônica , Humanos , DNA Mitocondrial/genética , Oftalmoplegia Externa Progressiva Crônica/genética , Fenótipo , Homozigoto , Atrofia , Exodesoxirribonucleases/genéticaRESUMO
BACKGROUND: Upper lateral cartilage manipulation is often associated with compromise of the middle-third vault. Although the anatomical details of the upper lateral cartilages are of great importance for the maintenance or even the creation of an aesthetically pleasing dorsum with proper respiratory function, the literature includes few studies related to these themes. Thus, this study aimed to evaluate the total length of the upper lateral cartilages and their extension under the nasal bones and caudally, and examine the anatomical variations of the upper lateral cartilages and their implications in rhinoplasty. METHOD: An anatomical study was performed on 32 upper lateral cartilages of 16 fresh adult cadavers. The upper lateral cartilages were measured for total length, cephalad length (overlapped by the nasal bones), and caudal length (caudally to the nasal bones) using a millimeter ruler. The measurements were recorded and analyzed by BioEstat 5.0 software. The statistical tests were performed at the significance level of 0.05. RESULTS: A total of 13 male specimens and 3 female specimens with ages ranging between 20 and 60 years were analyzed. The length of the upper lateral cartilage portion under the nasal bones on the right side ranged from 3 to 7 mm (4.62 ± 1.20 mm). On the left side, it ranged from 2 to 7 mm (4.56 ± 1.26 mm). The total length of the upper lateral cartilages ranged from 16 to 28 mm (20.44 ± 3.26 mm) on the right side and 17 to 30 mm (20.75 ± 3.71 mm) on the left side. CONCLUSION: Data from this study confirmed the anatomical variations of the upper lateral cartilages, including the portion lying under the nasal bones. This has important surgical implications given the attention required during spreader graft fabrication in order to maintain dorsal aesthetic lines and proper respiratory function.
Assuntos
Cartilagens Nasais/anatomia & histologia , Rinoplastia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
INTRODUÇÃO: São poucos os estudos na literatura que descrevem a morfologia das cartilagens laterais inferiores, sendo ainda mais raros em populações afrodescendentes. O objetivo desse estudo foi descrever a anatomia das cartilagens laterais inferiores e suas variações em afrodescendentes. MÉTODO: Foram estudados 16 cadáveres frescos. Os narizes foram dissecados através de exorinoplastia, com identificação e liberação das conexões das cartilagens laterais inferiores. As cruras laterais e cruras médias/mediais foram analisadas quanto a forma, comprimento e largura, sendo identificadas quanto ao lado e sexo. A distância entre o dômus e o septo caudal foi avaliada. Foi utilizada uma régua milimetrada para as mensurações. As medidas encontradas foram registradas e analisadas com auxílio do software BioEstat 5.0. RESULTADOS: A forma convexa das cruras laterais foi predominante; enquanto a forma côncava ocorreu unilateralmente em dois casos e bilateralmente em um. Os "pés" da crura mediais estavam unidos em 81,25 por cento da amostra e separados em 18,75 por cento dos casos. A distância entre o ângulo do septo caudal e o dômus foi de 4 a 10 mm (média = 6,86 ± 1,75 mm). CONCLUSÃO: As cartilagens laterais inferiores dos afrodescendentes apresentaram dimensões semelhantes aos descritos na literatura.
INTRODUCTION: There have been few studies measuring the morphology of the lower lateral cartilages in African-descendents. The aim of this study was to describe the anatomy of the lower lateral cartilages and their variations in African-descendents. METHODS: We studied 16 fresh adult cadavers. The noses were dissected through an open-approach rhinoplasty, with identification and release of lower lateral cartilages connections. The lateral crus and middle / medial crus were analyzed for shape, length and width, and were identified on the side and sex. The distance between the domus and the caudal septum was evaluated. A millimeter rule was used for measurements. The measures found were recorded and analyzed by BioEstat 5.0. RESULTS: The convex shape of the lateral crus was predominant, while unilaterally concave shape occurred in two cases and bilaterally in one case. The footplates of the medial crura were united in 81.25 percent of the sample and separated in 18.75 percent of cases. The distance between the angle of the caudal septum and the domus was 4 to 10 mm (mean = 6.86 ± 1.75 mm). CONCLUSION: The lower lateral cartilages of African-descendents had dimensions similar to those described in the literature.