MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

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MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

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Migraine with aura in the locker room: three case reports

It is well known that physical activity can aggravate the intensity of the headache, but the pathophysiological relationship between exertion and aura is still unknown. Anecdotal reports describe episodes of migraine preceded by head trauma and visual symptoms, migraine prodrome symptoms after unusually strenuous running with no subsequent head pain or recurrent attacks of hemiplegic migraine induced only by exertion. We describe the cases of three young men with recurrent episodes of migraine with aura occurring in the locker room shortly after a football match. Since the symptoms could mimic important pathologies in approximately 10% of these of headaches, it was mandatory to exclude a secondary form of headache in these patients. Several theories exist regarding the cause of primary exertional headache, but the pathogenesis of migraine triggered by physical activity has still not been identified. The present International Classification of Headache Disorders does not mention sport/exercise-induced migraine with aura episodes as primary headache. Since there are many cases described in the literature of migraine with aura triggered only by exercise, it may be helpful to specify, in the typical aura with migraine headache comments, that in some cases it can be exclusively triggered by sport/exercise

Clefted bicuspid aortic valve

We report an unusual case of bicuspid aortic valve in a 67-year-old man who had aortic valve replacement for combined severe aortic stenosis with moderate aortic regurgitation. Both preoperative echocardiography and angiocardiography failed to recognize the bicuspid nature of the aortic valve, which was discovered only at surgical pathology examination. The atypical anatomic findings of the valve consisted of a "cleft-like" appearance of the ventral leaflet formed by the two conjoined cusps together with a fenestrated rudimental raphe

Effect of renal artery stenting on the progression of renovascular renal failure: a case of intravascular ultrasound-confirmed renovascular disease.

We report the case of a 71-year-old male, submitted to percutaneous transluminal renal angioplasty (PTA) plus stent implantation following the confirmation, at intravascular ultrasound, of severe unilateral renal artery stenosis in the setting of a single functional kidney and of evidence of renal insufficiency (serum creatinine value 300 mumol/l). At 6 months of follow-up the serum creatinine levels had returned to normal (98 mumol/l). This case shows the role of direct PTA on the overall renal function in a case of global renal ischemia

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogienic DNA mutations

The purpose of this study was to identify novel mitochondrial deoxyribonucleic acid (mtDNA) mutations in a series of patients with clinical and/or morphological features of mitochondrial dysfunction, but still no genetic diagnosis. A heterogeneous group of clinical disorders is caused by mutations in mtDNA that damage respiratory chain function of cell energy production. We developed a method to systematically screen the entire mitochondrial genome. The sequence-data were obtained with a rapid automated system. In the six mitochondrial genomes analysed we found 20 variants of the revised Cambridge reference sequence [Nat. Genet. 23 (1999) 147]. In skeletal muscle nineteen novel mtDNA variants were homoplasmic, suggesting secondary pathogenicity or co-responsibility in determination of the disease. In one patient we identified a novel heteroplasmic mtDNA mutation which presumably has a pathogenic role. This screening is therefore useful to extend the mtDNA polymorphism database and should facilitate definition of disease-related mutations in human mtDN

Predicting Twitter Users' Political Orientation: An Application to the Italian Political Scenario

Recently, the increasing spread of Online Social Networks (OSNs) provided an unprecedented opportunity of analysing online traces of human behaviour to get insight on individuals and society. Among the others, the possibility of predicting users' political orientation relying on data extracted from OSNs received growing attention. In this study, we introduce and make publicly available a dataset composed of 6.685 unique Twitter users and 9.593.055 Tweets. Differently from most of the dataset currently available in the literature, here, each user was manually labeled according to their political orientation by a pool of human judges, using strict inclusion criteria. Further, we address the feasibility of the automatic classification of Italian Twitter users' political orientation based on their Tweets content. Our analysis focuses first on implementing a series of classifiers with the aim of predicting users' political preference as right- or left-oriented. The built models were then evaluated for inferring the political orientation of those users supporting 'Movimento 5 Stelle' (M5S), an Italian political party with a still unclear political leaning. Results show high performances on the left-right classification task, with accuracy rates up to 93%. Finally, classification performances obtained on M5S supporters and possible applications of our findings are discussed