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The case of an 81-year-old male operated on for an infected false aneurysm of the aortic arch by Mycobacterium bovis (M. bovis) is described. Arch reconstruction with cryopreserved aortic patch was successfully performed under hypothermic circulatory arrest. Antituberculous chemotherapy was given for 12 months and presently the patient is leading a normal life. Vascular infection after bacillus Calmette-Guerin bladder therapy is uncommon and aortic arch involvement near exceptional. This diagnosis has to be considered in patients with such previous urologic interventions.

Objectives Dermatomyositis (DM) constitutes a subset of idiopathic inflammatory myopathies clinically characterized by proximal muscle weakness and skin involvement. Some of the dermatologic manifestations are highly prevalent and characteristic, but others such as generalized or limb edema are truly rare. The aim of the present study was to describe five cases of edematous DM diagnosed at our institution and to perform a review of the literature, as well as identify clinical, laboratory, or pathological data associated with this manifestation. Methods We performed a retrospective clinical, laboratory, and pathological evaluation of five cases of this edematous presentation out of 86 DM cases diagnosed at our hospital from 2004 to 2013. Moreover, we undertook a medical literature search using inflammatory myopathy, dermatomyositis, and edema as key words, limited to articles published in MEDLINE, EMBASE, and LILACS database in English and Spanish from 1987 to 2013. Results A total of 19 patients were identified, five diagnosed at our hospital and 14 cases from the literature. Overall, the median time from disease onset to diagnosis was 2 months, and most of the patients (16/84 patients, 21%) required more aggressive therapy, including immunosuppressive agents and intravenous immunoglobulin (12/63 patients, 15%). Microinfarction was present 2.3 times more frequently in DM patients with edema compared with those without edema. Conclusions The presence of edema in DM is uncommon but seems to be a sign of severe disease, requiring early and aggressive treatment. Microischemia-producing microinfarction may play an important pathophysiological role and determine the degree of disease severity.

Background Pompe´s disease is an inherited metabolic myopathy caused by deficiency of the lysosomal enzyme acid α-glucosidase. In adults, it may be misdiagnosed as other chronic muscle disease such as limb girdle muscular dystrophy or polymyositis (PM), among others. Until now diagnosis was difficult and substitutive treatment not available, but recently the development of enzymatic methods using dried blood spots (DBS) on filter paper as a simple, quick and inexpensive first test, as well as the approval of enzyme replacement therapy, have substantially changed the patients perspectives. Objectives To check for Pompe’s disease in a series of adult patients diagnosed with myopathy of unknown etiology (MUE), PM or with asymptomatic hyperCKemia. Methods Patients with high values or creatin kinase (>1000 UI/L) recruited from a general routine laboratory and patients diagnosed with PM or MUE attended in a specialized myopathies outpatient clinic from 2 tertiary University Hospitals in Barcelona during the period of 1 year (from january 2012 to january 2013) were evaluated. The diagnosis of both PM and MUE was reached after a full pathologic analysis including histochemistry and immunohistochemistry on muscle biopsies was performed. We included another group of patients with well-known myopathy as a control group. In all patients, acid α-glucosidase activity in DBS was the method employed for screening and positive cases were then confirmed by enzymatic activity in purified lymphocytes and genetic testing. Results One-hundred twenty-four patients (78 female), with a median age (SD) of 53.6 yrs (17.6) were analysed. Polymyositis was diagnosed in 25 patients, hyper CK in 9, and MUE in 50. Other well-known myopathies such as mitochondrial myopathies, dystrophinopathies, dysferlinopathies, and McArdle disease were diagnosed in the remaining 40 (control group). Eight patients (3 with polymyositis, 2 with hyperCKemia and 3 with MUE tested positive for DBS to Pompe´s disease. Only one patient from the group of MUE was confirmed to be positive for Pompe´s disease by enzymatic and genetic testing. Conclusions Pompe’s disease may be an underdiagnosed disease in patients with myopathy of uncertain origin and it should be included in the differential diagnosis in these patients. Positivity to DBS required enzymatic and genetic confirmation. References Van der Ploeg AT, Reuser AJ. Lysosomal Storage Diseases 2. Pompe´s diseases. Lancet 2008;372:1342-53. van der Beek NA, de Vries JM, Hagemans ML, et al. Clinical features and predictor for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet Journal of Rare Diseases 2012, doi: 10.1186/1750-1172-7-88. Disclosure of Interest None Declared

Intrauterine growth restriction (IUGR) is an obstetric complication characterised by placental insufficiency and secondary cardiovascular remodelling that can lead to cardiomyopathy in adulthood. Despite its aetiology and potential therapeutics are poorly understood, bioenergetic deficits have been demonstrated in adverse foetal and cardiac development. We aimed to evaluate the role of mitochondria in human pregnancies with IUGR. In a single‐site, cross‐sectional and observational study, we included placenta and maternal peripheral and neonatal cord blood mononuclear cells (PBMC and CBMC) from 14 IUGR and 22 control pregnancies. The following mitochondrial measurements were assessed: enzymatic activities of mitochondrial respiratory chain (MRC) complexes I, II, IV, I + III and II + III, oxygen consumption (cell and complex I‐stimulated respiration), mitochondrial content (citrate synthase [CS] activity and mitochondrial DNA copy number), total ATP levels and lipid peroxidation. Sirtuin3 expression was evaluated as a potential regulator of bioenergetic imbalance. Intrauterine growth restriction placental tissue showed a significant decrease of MRC CI enzymatic activity (P

Mutations in leucine rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson’s disease (PD). Mitochondrial and autophagic dysfunction has been described as etiologic factors in different experimental models of PD. We aimed to study the role of mitochondria and autophagy in LRRK2 G2019S -mutation, and its relationship with the presence of PD-symptoms. Fibroblasts from six non-manifesting LRRK2 G2019S -carriers (NM-LRRK2 G2019S ) and seven patients with LRRK2 G2019S -associated PD (PD-LRRK2 G2019S ) were compared to eight healthy controls (C). An exhaustive assessment of mitochondrial performance and autophagy was performed after 24-h exposure to standard (glucose) or mitochondrial-challenging environment (galactose), where mitochondrial and autophagy impairment may be heightened. A similar mitochondrial phenotype of NM-LRRK2 G2019S and controls, except for an early mitochondrial depolarization (54.14% increased, p = 0.04), was shown in glucose. In response to galactose, mitochondrial dynamics of NM-LRRK2 G2019S improved (− 17.54% circularity, p = 0.002 and + 42.53% form factor, p = 0.051), probably to maintain ATP levels over controls. A compromised bioenergetic function was suggested in PD-LRRK2 G2019S when compared to controls in glucose media. An inefficient response to galactose and worsened mitochondrial dynamics (− 37.7% mitochondrial elongation, p = 0.053) was shown, leading to increased oxidative stress. Autophagy initiation (SQTSM/P62) was upregulated in NM-LRRK2 G2019S when compared to controls (glucose + 118.4%, p = 0.014; galactose + 114.44%, p = 0.009,) and autophagosome formation increased in glucose media. Despite of elevated SQSTM1/P62 levels of PD-NM G2019S when compared to controls (glucose + 226.14%, p = 0.04; galactose + 78.5%, p = 0.02), autophagosome formation was deficient in PD-LRRK2 G2019S when compared to NM-LRRK2 G2019S (− 71.26%, p = 0.022). Enhanced mitochondrial performance of NM-LRRK2 G2019S in mitochondrial-challenging conditions and upregulation of autophagy suggests that an exhaustion of mitochondrial bioenergetic and autophagic reserve, may contribute to the development of PD in LRRK2 G2019S mutation carriers.