RESUMO
This case report describes the surgical and post-operative challenges encountered following a THA performed for a subcapital femoral neck fracture in a patient with an ipsilateral above-knee amputation.
RESUMO
In the presence of limb trauma, the appearance of local edema should always be carefully examined by Orthopaedics surgeons. A post-traumatic wrist swelling without fracture could even lead to serious pathologies and relative sequelaes. These include the radial artery pseudoaneurysm. In this report we present a case of radial artery pseudoaneurysm following wrist trauma, successfully treated whit conservative treatment.
RESUMO
Mitochondrial DNA (mtDNA) sequence variation in the segment of the D-loop region encompassing the initiation sites for replication and transcription was analyzed in the blood of 277 Italian type 2 diabetes patients and 277 Italian healthy subjects. Compared with the Cambridge Reference Sequence, diabetic patients show a slightly higher propensity to accumulate base changes in this region, with respect to controls, although no significant association can be established between any of the detected changes and the diabetic condition. Subjects, patients and controls, harbouring base changes at the replication origins (positions 57 and 151) and at position 58 were analyzed for mtDNA content. The mtDNA content increased three-four times only in the diabetic patients bearing the m.151C>T transition, whereas in those bearing the m.58T>C change the mtDNA content doubled, independently of the affiliation haplogroup. This result suggests that the m.151C>T transition and, to a lower extent, the m.58T>C might confer to the blood cells of diabetic patients the capability of increasing their mtDNA content, whereas the same transitions have no effect on control subjects.
Assuntos
DNA Mitocondrial/sangue , DNA Mitocondrial/genética , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/genética , Variação Genética , Origem de Replicação/genética , Idoso , DNA/sangue , DNA/genética , DNA/isolamento & purificação , Primers do DNA , Replicação do DNA/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Valores de Referência , Transcrição GênicaRESUMO
To obtain information on the mechanisms responsible of the generation of ragged red fibers (RRF) during aging, we analyzed the mitochondrial genotype of single skeletal muscle fibers of healthy individuals having an age comprised between 45 and 92 years. The sequencing of the D-loop region showed many sequence changes with respect to the Cambridge reference sequence (CRS), in both RRF and normal fibers. These changes were more abundant in RRF and their number increased between 50 and 60, and 61 and 70 years and then remained approximately constant. The analysis of the sequence changes showed that each subject contained one or more changes associated to RRF in positions of D-loop region that either do not change or that change very rarely. In general the same type of RRF-associated change was not found in more than one individual; exceptions were changes in positions 189, 295, 374 and 514, detected in 20-50% of analyzed subjects. In particular the A189G age-associated mutation was found only in old individuals and prevalently in RRF. Sequencing of other two mtDNA regions showed no relevant changes in the 16S/ND1 region and two RRF-associated original mutations, G5847A and A5884C, in two very conserved positions of tRNATyr. These results indicate that each subject has its own pattern of RRF-associated mutations in both coding and non-coding region of human mtDNA.
Assuntos
Envelhecimento/fisiologia , DNA Mitocondrial/genética , Síndrome MERRF/genética , Mitocôndrias Musculares/fisiologia , Fibras Musculares Esqueléticas/metabolismo , Mutação , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Bases , Ciclo-Oxigenase 1 , Análise Mutacional de DNA , Humanos , Proteínas de Membrana , Pessoa de Meia-Idade , Fibras Musculares Esqueléticas/citologia , Peptídeos Cíclicos/genética , Reação em Cadeia da Polimerase/métodos , Prostaglandina-Endoperóxido Sintases/genética , RNA de Transferência/genética , Succinato Desidrogenase/genéticaRESUMO
To gain further information on the role of mitochondrial transcription factor A (TFAM) in mitochondrial biogenesis, we studied the post-translational modifications of the protein in 6- and 28-month-old rat liver. Mass spectrometry and immunoblot analysis revealed that TFAM was acetylated at a single lysine residue and that the level of acetylation did not change with age. The measurement of the content of TFAM and of mitochondrial DNA (mtDNA) in several organs (cerebellum, heart, kidney, and liver) of young and old rats showed an age-related increase of mtDNA and TFAM in all the organs analyzed, except in heart. These data are discussed in the light of the multiple roles of TFAM in mitochondrial biogenesis and of the age-related change of the mitochondrial transcription.