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No abstract

Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not been previously associated to mutations in this gene. To correct this bias, we have performed a screening of the MT-ATP6 gene in a large collection of patients suspected of suffering different mitochondrial DNA (mtDNA) disorders. In three cases, biochemical, molecular-genetics and other analyses in patient tissues and cybrids were also carried out. We found three new pathologic mutations. Two of them in patients showing phenotypes that have not been commonly associated to mutations in the MT-ATP6 gene. These results remark the importance of sequencing the MT-ATP6 gene in patients with striatal necrosis syndromes, but also within other mitochondrial pathologies. This gene should be sequenced at least in all those patients suspected of suffering an mtDNA disorder disclosing normal results for histochemical and biochemical analyses of respiratory chain.

For the last decades, the latissimus dorsi skin-muscle flap has contributed to the efficient reconstruction of the loss of skin cover (especially in breast surgery) and in long-distance tissue defects. Unfortunately, the nonuse of such an important muscle as the latissimus dorsi for the patient, as well as the resulting thickness of the flap after reconstruction, has turned it into a second choice flap. However, this flap is still indicated in the reconstruction of areas which need a great amount of cutaneous and muscular tissue. The appearance of the perforator flaps and, specifically, thoracodorsal artery perforator (TDAP) flap, has meant a radical change in relation to lower morbidity of the donor site, thus highly ranking the use of these flaps in the reconstruction for similar defects. The aim of this publication is to present our experience with the pedicled TDAP flap in a series of 17 different cases. Of those, there were 14 cases of mammary reconstruction after sparing surgery, 2 cases of axillary reconstruction following severe recurrent hidradenitis, and a case of extensive substance loss in a patient's upper limb following a severe crush injury.