Molecular diagnostics and mitochondrial dysfunction: a future perspective

This review deals with the state of the art in knowledge about molecular diagnostics in mitochondrial diseases. A considerable development over the last years of several lines of biological, biochemical and biophysical investigation techniques has enormously enlarged the chance to obtain significant information by their application in the study of mitochondrial diseases in both in vivo and in vitro clinical applied research. The nosography of mitochondrial diseases is, therefore, day by day enriched by reports of new acquisitions that merge with the innovative contribution that novel laboratory and clinical investigative technologies add to the knowledge of the physiopathology and management of these complex diseases. Apart from the molecular genetic characterization of mitochondrial diseases, different experimental laboratory approaches have contributed, from a molecular point of view, to add new insights in this field of medicine. The strategies of these investigations can be targeted to detect and evaluate the significance of molecules that can play a relevant role in the determination of clinical phenotypes, making it possible to better understand several still unexplained mechanisms of cell damage.     

Age-related changes in periodic leg movements during sleep in patients with restless legs syndrome

ObjectiveThe aim of this study was to evaluate and statistically describe the age-related changes in leg movements (LMs) during sleep in a large group of subjects with restless legs syndrome (RLS).Subjects and methodsOne hundred eight untreated patients affected by idiopathic RLS were included in this study (mean age 52.0 years, min 7.5, max 83.2 years). The time structure of their polysomnographically recorded LMs was analyzed using an approach particularly appropriate for assessing their quantity, periodicity, and distribution during the night.ResultsPeriodic LMs during sleep (PLMS) increased in number gradually in the age groups. Their typical interval was approximately 24–28 s before the age of 55 years but at approximately 14–16 s after the age of 65 years. PLMS index reached a plateau at 15–25 years of age and remained stable up to 65 years; after this age, it showed an important increase. Periodicity index (PI) increased progressively up to the age of 35 years and then remained stable up to the age of 85 years. No correlation was found between PLMS index and PI. The number of PLMS per hour of sleep declined through the night in subjects aged 15–75 years; after this age, PLMS tended to be equally distributed across the entire night.ConclusionsThe use of three main parameters derived from the analysis of leg motor activity during sleep in RLS patients (PLMS index, PI and PLMS time distribution) is capable of providing us with important information about the age-related changes of PLMS in this condition, which can be used in the evaluation of the sleep motor patterns in these subjects.     

Visceral artery aneurysms, an experience on 32 cases in a single center: treatment from surgery to multilayer stent

Between 2000 and 2010, 32 patients (17 males; mean age: 64.7 [range: 18-85] years) with visceral artery aneurysms (VAAs) were treated in our center. The site of aneurysmal disease was: splenic artery (18), hepatic artery (5), superior mesenteric artery (3), pancreaticoduodenal artery (3), celiac axis (2), and gastroduodenal (1). Six patients (18.75%) presented with an aneurysm rupture. Nine cases received an endovascular treatment. Primary technical success was achieved in six patients. Failures included one case of immediate stent occlusion, one stent migration, and one failed attempt of embolization. In 24 cases, the surgical treatment was performed successfully. The total survival rate was 90.6% (in urgency: 75%; in election: 95.8%). A follow-up period of 34.7 months (range: 2-117 months) showed good results. Because of the potential risk of rupture, VAAs should be treated. A new endovascular technology based on a multilayer stent could provide us with a new alternative to VAA treatment, guaranteeing both aneurysmatic sac thrombosis and the correct perfusion of the organs. However, this new technology is not suitable for all aneurysms and requires a specific training and learning curve. In subjects with a low surgical risk, surgery guarantees a definitive and long-lasting repair with a good organ perfusion.     

Meniscus tears treatment: The good,the bad and the ugly-patterns classification and practical guide

Over the years, several studies demonstrated the crucial role of knee menisci in joint biomechanics. As a result, save the meniscus has become the new imperative nowadays, and more and more studies addressed this topic. The huge amount of data on this topic may create confusion in those who want to approach this surgery. The aim of this review is to provide a practical guide for treatment of meniscus tears, including an overview of technical aspects, outcomes in the literature and personal tips. Taking inspiration from a famous movie directed by Sergio Leone in 1966, the authors classified meniscus tears in three categories: The good, the bad and the ugly lesions. The inclusion in each group was determined by the lesion pattern, its biomechanical effects on knee joint, the technical challenge, and prognosis. This classification is not intended to substitute the currently proposed classifications on meniscus tears but aims at offering a reader-friendly narrative review of an otherwise difficult topic. Furthermore, the authors provide a concise premise to deal with some aspects of menisci phylogeny, anatomy and biomechanics.