RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

Patient registry; Self-reported registry; Spinal muscular atrophyRegistre de pacients; Registre autoinformat; Atròfia muscular espinalRegistro de pacientes; Registro autoinformado; Atrofia muscular espinalBackground Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the last decade, SMA has dramatically changed thanks to new advances in care and the emergence of disease-specific treatments. RegistrAME is a self-reported specific disease registry with an accurate curation system. It has collected data on SMA patients in Spain since 2015, gathering demographic, clinical, and patient-reported outcome data, all of which are patient-relevant. RegistrAME is part of the TREAT NMD network. This study aims to describe the advantages and disadvantages of a self–reported SMA registry, as well as the different variables of interest in the health status of RegistrAME patients. Results In total, 295 living patients with a confirmed diagnosis of SMA-5q were included (aged 1 to 77 years; mean 20.28). Half of the patients (50.2%) were ≥ 16 years old; 22.03% were type 1, 48.47% were type 2, 28.82% were type 3, and 0.7% were type 4. All functional statuses (non-sitter, sitter, and walkers) could be observed in each SMA type. Adult patients harbored the least aggressive SMA types, however, they presented the greatest level of disability. Patients with SMA type 1 had scoliosis surgery about five years earlier than patients with SMA type 2. None of the type 1 patients who achieved ambulation were wheelchair-free outdoors. This was also evident in 62.5% of type 2 walker patients and 44% of type 3 walker patients. Of the SMA type 1 patients, 40% had a gastrostomy (of which 84% had two SMN2 copies). One in five children with SMA type 1 (one to seven years of age) were ventilation-free. Conclusions The information provided by RegistrAME in a “real-world” setting allows better management of family expectations, an adequate approach to the disease and patients’ needs, as well as a better understanding of the impact of the disease. It also helps monitor the evolution of care, which will result in the need for updated guidelines.Funding for this project was provided by FundAME

ONE-TROCAR VIDEO-ASSISTED STRIPPING TECHNIQUE FOR USE IN THE TREATMENT OF LARGE OVARIAN CYSTS IN INFANTS

Background Management of ovarian cysts in infants is controversial; it can be conservative or surgical, and the management is determined by the cyst''s size and sonographic features. Methods A surgical approach using a 10-mm umbilically placed operative laparoscope was taken in 3 female infants with antenatally diagnosed large, simple ovarian cysts. The contents of the cysts were partially aspirated and the cyst walls were stripped off the remaining ovarian parenchyma. No intraoperative or postoperative complications were recorded. Conclusions The one-trocar video-assisted stripping technique for large ovarian cysts in infants appears to be an ovarian-tissue-preserving procedure, and it sidesteps the disadvantages of large scars and formation of adhesions

Quantifying ultrasonic deformation of cell membranes with ultra-high-speed imaging

We present a new method for controllable loading of cell models in an ultrasonic (20 kHz) regime. The protocol is based on the inertial-based ultrasonic shaking test and allows to deform cells in the range of few mm/m to help understand potential consequences of repeated loading characteristic of ultrasonic cutting

Modelling the effect of environmental variables on the reproductive success of Griffon Vulture (Gyps fulvus) in Sardinia, Italy

Old World vultures are experiencing dramatic population declines and now are among the species most threatened with extinction. Understanding the environmental variables that can influence the reproductive indexes of vulture populations can facilitate both habitat and species management. The aim of this study was to identify which environmental variables primarily affect the breeding successes of the Griffon Vulture Gyps fulvus in northern Sardinia by applying a Bayesian hierarchical model. A unique dataset of reproductive records (197 nests monitored over 39 years for a total of 992 breeding records) was used. Eight environmental and topographical variables describing the habitat at the nesting sites were considered as potential predictors of breeding success. These included mean annual temperature, mean annual precipitation, isothermality, elevation, the normalized difference vegetation index, wind speed, and the aspect and slope of the land surface. In addition, we also considered the effect of human disturbance and the type of nest. According to our best model, the probability of successfully raising a chick in Griffon Vultures was higher in nests exposed to a high wind speed, not covered by natural shelters, where the vegetation was mostly represented by shrub and pastures, with low human disturbance and in years with low rainfall. This model will be useful for management of the breeding habitat and to identify the area most suitable for Griffon Vulture reproduction. This information is crucial for programming conservation measures aimed at enlarging the area of occupancy of the species.Postprin

Sorveglianza delle gastroenteriti da Norovirus in Italia: comparsa e diffusione della nuova variante GII.4 Sydney 2012

In the 2012-2013 winter season, global surveillance for norovirus circulation evidenced the onset of a new norovirus GII.4 variant, termed Sydney 2012. In Italy, ISGEV hospital-based surveillance revealed that this variant already circulated at low frequency in the winter season 2011-2012 and emerged definitively only in the late 2012. This lag-time pattern mirrors the findings reported elsewhere and suggests that the novel variant circulated at low prevalence before spreading globally

Clinically-based determination of safe DNAemia cutoff levels for preemptive therapy or human cytomegalovirus infections in solid organ and hematopoietic stem cell transplant recipients

Transplantation Centers using human cytomegalovirus (HCMV) antigenemia-based preemptive therapy will need to replace in the near future the antigenemia assay with a more standardized and automatable assay, such as a molecular assay quantifying HCMV DNA in blood (DNAemia). Thus, in view of replacing antigenemia with clinically safe cutoff values, DNAemia levels corresponding to antigenemia cutoffs guiding HCMV preemptive therapy were determined retrospectively in solid organ and hematopoietic stem cell transplant recipients (HSCTR) using an "in-house" quantitative PCR (QPCR) method. Since preemptive therapy had prevented appearance of HCMV disease in all patients tested, DNA cutoffs determined retrospectively had to be considered as safe clinically as antigenemia cutoffs used prospectively. However, in solid organ transplant recipients (SOTR), initiating preemptive therapy upon an antigenemia cutoff of 100 pp65-positive leukocytes, a DNAemia cutoff of 300,000 copies/ml blood had positive and negative predictive values of >90%, indicating that a DNAemia cutoff could achieve, in terms of prevention of HCMV disease, the same clinical results as the antigenemia cutoff. In HSCTR, initiating preemptive therapy upon first antigenemia positivity, a DNAemia cutoff of 10,000 copies/ml blood had a positive predictive value of >90%, indicating that the great majority of patients treated under the antigenemia guidance would have been treated also using this DNA cutoff. On the other hand, the negative predictive value of 28.6% indicated that two out of three HSCTR had been treated under the antigenemia guidance having the same levels of viral DNA as the untreated patients. The data suggest that a quantitative cutoff could be adopted as a guiding criterion for preemptive therapy also in HSCTR. Regression analysis allowed to determine the DNAemia (corresponding to QPCR) cutoff values for two commercial assays tested both in solid organ and HSCTR. Retrospective DNAemia cutoff values will be verified for safety in prospective trial

MAD-4-MITO, a Multi Array of Detectors for ground-based mm/submm SZ observations

The last few years have seen a large development of mm technology and ultra-sensitive detectors devoted to microwave astronomy and astrophysics. The possibility to deal with large numbers of these detectors assembled into multi--pixel imaging systems has greatly improved the performance of microwave observations, even from ground--based stations, especially combining the power of multi--band detectors with their new imaging capabilities. Hereafter, we will present the development of a multi--pixel solution devoted to Sunyaev--Zel'dovich observations from ground--based telescopes, that is going to be operated from the Millimetre and Infrared Testagrigia Observatory.Comment: 5 pages, 3 figures, to be published in th eProceedings of the 2K1BC Workshop, July 9-13, 2001 - Breuil-Cervini

Genetic heterogeneity and recombination in human type 2 astroviruses

Novel lineages of human astrovirus (HAstV) types 2, 2c, and 2d have been identified. Upon sequencing of the 3= end of the genome, the type 2c and 2d HAstVs were found to be open reading frame 1b (ORF1b)-ORF2 recombinant, with ORF1b being derived from type 3 and type 1 HAstVs, respectively. An ORF2 interlineage recombinant strain, 2c/2b, was also identified

Gonad quality of sea urchin Paracentrotus lividus cultured in an offshore pilot‐scale trial on the south‐east Italian coast

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