Novel TRIM32 mutation in sarcotubular myopathy

Tripartite motif-containing protein 32 (TRIM32) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric proteins. Mutations in TRIM32 are associated with Limb-Girdle Muscular Dystrophy 2H. In a 66 old woman with disto-proximal myopathy, we identified a novel homozygous mutation of TRIM32 gene c.1781G > A (p. Ser594Asn) localised in the c-terminus NHL domain. Mutations of this domain have been also associated to Sarcotubular Myopathy (STM), a form of distal myopathy with peculiar features in muscle biopsy, now considered in the spectrum of LGMD2H. Muscle biopsy revealed severe abnormalities of the myofibrillar network with core like areas, lobulated fibres, whorled fibres and multiple vacuoles. Desmin and Myotilin stainings also pointed to accumulation as in Myofibrillar Myopathy. This report further confirms that STM and LGMD2H represent the same disorder and suggests to consider TRIM32 mutations in the genetic diagnosis of Sarcotubular Myopathy and Myofibrillar Myopathy

The use of functional tests and planned coronary angiography after percutaneous coronary revascularization in clinical practice. Results from the AFTER multicenter study

Background: The follow-up strategies after percutaneous coronary intervention (PCI) have relevant clinical and economic implications. The purpose of this prospective observational multicenter study was to evaluate the effect of clinical, procedural and organizational variables on the execution of functional testing (FT) and planned coronary angiography (CA) after PCI, and to assess the impact of American College of Cardiology (ACC)/American Heart Association (AHA) guidelines on clinical practice. Methods: Four hundred twenty consecutive patients undergoing PCI were categorized as class I, IIB and III indications for follow-up FT according to ACC/AHA guidelines recommendations. Furthermore, all patients were grouped according to the presence or absence of FT and/or planned CA over 12 months after PCI. Multivariable analysis was used to assess the potential predictors of test execution. Results: During the 12-month follow-up at least one test was performed in 72% of patients with class I indication, 63% of patients with class IIB indication and 75% of patients with class III indication (p=ns). A total of 283 patients (67%) underwent testing. The use of tests was associated with younger age (R. R. 0.94, C. I. 0.91 +/- 0.97, p<0.001), a lower number of diseased vessels (R.R. 0.60, C.I. 0.43 +/- 0.84, p=0.003), follow-up by the center performing PCI (R. R. 2.64, C. I. 1.43 +/- 4.86, p=0.002), and the specific center at which PCI was performed. Most asymptomatic patients completed their testing prematurely with respect to the risk period for restenosis. Conclusions: The use of FT and planned CA after PCI is unrelated to patient's symptom status, and depends on patient's age and logistics. ACC/AHA guidelines have no influence in clinical practice, and test timing is not tailored to the risk period for restenosis. (C) 2008 Elsevier Ireland Ltd. All rights reserved

Clinical features and outcomes of elderly hospitalised patients with chronic obstructive pulmonary disease, heart failure or both

Background and objective: Chronic obstructive pulmonary disease (COPD) and heart failure (HF) mutually increase the risk of being present in the same patient, especially if older. Whether or not this coexistence may be associated with a worse prognosis is debated. Therefore, employing data derived from the REPOSI register, we evaluated the clinical features and outcomes in a population of elderly patients admitted to internal medicine wards and having COPD, HF or COPD + HF. Methods: We measured socio-demographic and anthropometric characteristics, severity and prevalence of comorbidities, clinical and laboratory features during hospitalization, mood disorders, functional independence, drug prescriptions and discharge destination. The primary study outcome was the risk of death. Results: We considered 2,343 elderly hospitalized patients (median age 81&nbsp;years), of whom 1,154 (49%) had COPD, 813 (35%) HF, and 376 (16%) COPD + HF. Patients with COPD + HF had different characteristics than those with COPD or HF, such as a higher prevalence of previous hospitalizations, comorbidities (especially chronic kidney disease), higher respiratory rate at admission and number of prescribed drugs. Patients with COPD + HF (hazard ratio HR 1.74, 95% confidence intervals CI 1.16-2.61) and patients with dementia (HR 1.75, 95% CI 1.06-2.90) had a higher risk of death at one year. The Kaplan-Meier curves showed a higher mortality risk in the group of patients with COPD + HF for all causes (p = 0.010), respiratory causes (p = 0.006), cardiovascular causes (p = 0.046) and respiratory plus cardiovascular causes (p = 0.009). Conclusion: In this real-life cohort of hospitalized elderly patients, the coexistence of COPD and HF significantly worsened prognosis at one year. This finding may help to better define the care needs of this population

Mortality and pulmonary complications in patients undergoing surgery with perioperative SARS-CoV-2 infection: an international cohort study

Background: The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on postoperative recovery needs to be understood to inform clinical decision making during and after the COVID-19 pandemic. This study reports 30-day mortality and pulmonary complication rates in patients with perioperative SARS-CoV-2 infection. Methods: This international, multicentre, cohort study at 235 hospitals in 24 countries included all patients undergoing surgery who had SARS-CoV-2 infection confirmed within 7 days before or 30 days after surgery. The primary outcome measure was 30-day postoperative mortality and was assessed in all enrolled patients. The main secondary outcome measure was pulmonary complications, defined as pneumonia, acute respiratory distress syndrome, or unexpected postoperative ventilation. Findings: This analysis includes 1128 patients who had surgery between Jan 1 and March 31, 2020, of whom 835 (74·0%) had emergency surgery and 280 (24·8%) had elective surgery. SARS-CoV-2 infection was confirmed preoperatively in 294 (26·1%) patients. 30-day mortality was 23·8% (268 of 1128). Pulmonary complications occurred in 577 (51·2%) of 1128 patients; 30-day mortality in these patients was 38·0% (219 of 577), accounting for 81·7% (219 of 268) of all deaths. In adjusted analyses, 30-day mortality was associated with male sex (odds ratio 1·75 [95% CI 1·28–2·40], p\textless0·0001), age 70 years or older versus younger than 70 years (2·30 [1·65–3·22], p\textless0·0001), American Society of Anesthesiologists grades 3–5 versus grades 1–2 (2·35 [1·57–3·53], p\textless0·0001), malignant versus benign or obstetric diagnosis (1·55 [1·01–2·39], p=0·046), emergency versus elective surgery (1·67 [1·06–2·63], p=0·026), and major versus minor surgery (1·52 [1·01–2·31], p=0·047). Interpretation: Postoperative pulmonary complications occur in half of patients with perioperative SARS-CoV-2 infection and are associated with high mortality. Thresholds for surgery during the COVID-19 pandemic should be higher than during normal practice, particularly in men aged 70 years and older. Consideration should be given for postponing non-urgent procedures and promoting non-operative treatment to delay or avoid the need for surgery. Funding: National Institute for Health Research (NIHR), Association of Coloproctology of Great Britain and Ireland, Bowel and Cancer Research, Bowel Disease Research Foundation, Association of Upper Gastrointestinal Surgeons, British Association of Surgical Oncology, British Gynaecological Cancer Society, European Society of Coloproctology, NIHR Academy, Sarcoma UK, Vascular Society for Great Britain and Ireland, and Yorkshire Cancer Research

Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

L\u2019uso di strutture intelligenti nella progettazione di veicoli subacquei

La ricerca ha lo scopo di analizzare l\u2019utilizzo delle smart structures (strutture definite intelligenti per la loro capacit\ue0 di modificarsi in funzione dell\u2019ambiente che le circonda) nella progettazione dei veicoli subacquei. Allo scopo si \ue8 utilizzato un glider: un veicolo subacqueo autonomo privo di motore che si muove sfruttando l\u2019azione combinata di spinta di galleggiamento e portanza generata da una coppia di ali la cui ottimizzazione costituisce parte integrante della ricerca. Una volta definito lo spazio progettuale ed identificate le variabili di interesse \ue8 stato possibile ipotizzare l\u2019uso di differenti combinazioni di materiali e forme per ottimizzare le prestazioni del veicolo, in particolare modo, dal punto di vista della persistenza in acqua

Technology and neuroarchitecture

This paper is part of an ongoing research project involving the Department of Architecture and Design at the University of Genoa, as well as entities from both the professional training and industrial worlds. The primary objective of this research is the development of a tool that is useful both for designers and for users. Based on the concept of smart mock-ups, previously developed by the authors, the focus has been declined on the world of nautical design, with the aim of measuring, through qualitative parameters, the user experience in a built environment, whether it is a relaxing or working environment. The first and fundamental step involves defining the 'state of the user' through a vector of measurable variables using a network of sensors that do not significantly alter the UX with the surrounding space. This article presents the state of the art of techniques and sensors that can be used for research purposes, as well as the proposed experimental setting to verify the initial working hypotheses. Then we will describe how research will move on to obtain an affordable and efficient tool for nautical designers. Here, we will describe different types of methods that can be used in neuroscience, from standard ones (like emotions recognition software based on FACS, or biometric sensors like heart rate variability, galvanic skin response), to modern ones (like the use of electroencephalography, functional magnetic resonance imaging) and eye tracking

A Smart Mockup for an Innovative Interior Yacht Design Approach

The design of the environment of a yacht or a ship must consider, among the many variables, the guest’s experience and focus on its optimization; this means observing the modalities of interaction with the space and the objects that occupy it, acquiring the necessary information and, when possible, building a model capable of predicting, within a reasonable limit, the modalities of the interaction of different users.An intelligent mock-up is a structure designed to monitor the user experience through a network of sensors integrated into the environment that reproduces the space to be designed. It also introduces the furniture elements and whatever else characterizes it in reality.A dense network of optical, acoustic and piezoelectric sensors can return valuable information concerning both the visitor’s interactions with the surrounding space and the perception of the environment itself by the occupants.One of the central elements is represented by a network of high-resolution video cameras, which acquires, among other variables, the pupil diameter (mydriasis is, in fact, and some precise circumstances, a critical neuro-cognitive indicator) of the visitor by including it in a data set that, as a whole, contributes to the definition of a model of interaction between visitor and environment, built on a neuroscientific basis.Once validated, the model data can represent an essential aid for designing any interior space on ships and yachts without excluding different environments, smaller or located in extreme contexts.

S. Tomaso D'Aquino : publicazione commemorativa del Sesto Centenario della Canonizzazione

Port. con grav. xi