Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen.

BACKGROUND: Spinal muscular atrophy (SMA) is a rare autosomal-recessive neurodegenerative disorder caused by mutations in survival motor neuron 1 (SMN1) gene, and consequent loss of function of SMN protein, which results in progressive loss of lower motor neurons, and muscular wasting. Antisense oligonucleotide (ASO) nusinersen (Spinraza®) modulates the pre-mRNA splicing of the SMN2 gene, allowing rebalance of biologically active SMN. It is administered intrathecally via lumbar puncture after removing an equal amount of cerebrospinal fluid (CSF). Its effect was proven beneficial and approved since 2017 for SMA treatment. Given the direct effect of nusinersen on RNA metabolism, the aim of this project was to evaluate cell-free RNA (cfRNA) in CSF of SMA patients under ASOs treatment for biomarker discovery. METHODS: By RNA-sequencing approach, RNA obtained from CSF of pediatric SMA type 2 and 3 patients was processed after 6 months of nusinersen treatment, at fifth intrathecal injection (T6), and compared to baseline (T0). RESULTS: We observed the deregulation of cfRNAs in patients at T6 and we were able to classify these RNAs into disease specific, treatment specific and treatment dependent. Moreover, we subdivided patients into "homogeneous" and "heterogeneous" according to their gene expression pattern. The "heterogeneous" group showed peculiar activation of genes coding for ribosomal components, meaning that in these patients a different molecular effect of nusinersen is observable, even if this specific molecular response was not referable to a clinical pattern. CONCLUSIONS: This study provides preliminary insights into modulation of gene expression dependent on nusinersen treatment and lays the foundation for biomarkers discovery.

Change Management in Healthcare Organizations: Soft Skills Training Strategies Through Blended Learning Environments.

Teaching soft skills for change management in healthcare organizations is becoming increasingly necessary, even more, when implementing health information systems (HIS). There is little evidence that these skills can be learned through online teaching environments. This paper describes the experience of having taught soft skills to health informatics master's degree students, through blended learning environments.

Adoption Factors Related to Electronic Vaccine Record in the Public Primary Care Network of Buenos Aires City.

The Electronic Health Record used in the public primary care network of Buenos Aires City has a specific module for the vaccines registration. The present study explores the factors of EHR adoption by nurses. We found 5 barriers and one facilitator for adoption. Barriers are related with organize the flow of patients especially during vaccine campaigns, adapt the work stations and integrate the records with the vaccine central program.

Effects of vineyard soil management on the characteristics of soils and roots in the lower Oltrepò Apennines (Lombardy, Italy).

Cultivation of grapevines in sloping soils is very widespread all over the world, representing also fundamental branch of local economy of several hilly areas. Vineyards can be managed in different ways. Agronomical practices in inter-rows can be significantly different and may influence deeply the soil properties and the grapevine root development. Therefore, this paper aimed to analyze the effects of different management practices of inter-rows. We focused on the traditional agricultural techniques of tillage and permanent grass mulching as well as the alternation of these two practices between adjacent inter-rows, in terms of: i) soil physical properties; ii) soil hydrological properties; iii) root density; iv) root mechanical properties and root reinforcement; as well as v) biodiversity. The research was conducted in several test-sites of Oltrepò Pavese (Lombardy region, north-western Italy), one of the most important Italian zones for wine production in northern Italian Apennines. Among the examined soil properties, hydraulic conductivity was the most influenced soil property by different soil management practices. The absence of soil tillage allowed to increase superficial (first 0.2 m of soil) hydraulic conductivity, as a consequence of higher macroporosity and amount in organic matter. Vineyards with alternation management (grass mulching together with tillage) of inter-rows had the highest root density and the strongest root reinforcement, of up to 45% in comparison to permanent grass cover, and up to 67-73% in comparison to tilled vineyards. Soil microarthropod communities had more complexity where sustainable agricultural practices (permanent grass cover; alternation management of the inter-rows) were applied. The results of this study yielded important information to establish effective management practices of vineyards such as conserving organic matter and reducing slope instabilities by a better development of root apparatus in the soil.

Developing an Electronic Record Tool Representative of Primary Health Care in the Public Health Care System of Buenos Aires City.

The Primary Health Care strategy is based on organization of interdisciplinary teams and comprehensive approach to health, disease and health care processes. To strengthen information systems so that they represent primary health care complexities, participatory meetings were held with primary care practitioners from the public health care system of Buenos Aires City. Terms for the record tool and its components were chosen using consensus methodologies. This process involved 300 practitioners from 49 centers, and submission of 21 proposals. It was decided to change the term "Electronic Medical Record" with "Comprehensive Health Record." It was also agreed that, apart from "Reason for Consultation," the field "Problem Situation" would be added, that "Care Service" would be replaced with "Care Act," and that a new module "Health Team Management and Education Activities" would be included to document practitioners team activities.

Providers Expectations on Telemedicine: A Qualitative Research in a Large Healthcare Network of Latin America.

UNLABELLED: The benefits of Telemedicine make it a viable, reliable and useful discipline for dispensing health care. This qualitative study is aimed to understand the expectations, opinions and previous knowledge of the professionals about telemedicine at the Hospital Italiano de Buenos Aires. RESULTS: Professionals realize that Telemedicine is inserted into their usual practice in an informal way. They consider telemedicine as an alternative to the traditional delivery of health care, but are afraid of their role in health care is undermined. Professionals point out very specific applications of Telemedicine such as monitoring the health of patients remotely, drug doses adjustments and sharing clinical information. CONCLUSION: Results suggest that professionals are not familiar with telemedicine and will be necessary to develop a training plan before implementation.

Non specific aorto-arteritis. Clinical picture, diagnosis and therapy.

This study is aimed at analyzing clinical features, angiographic findings and evolution of Takayasu's arteritis and the criteria adopted to establish the indication for non-surgical versus operative treatment. Eighteen patients affected by non specific aortarteritis were observed and treated at our Department between 1973 and 1996. All patients met the American College of Rheumatology 1990 criteria of classification of Takayasu's arteritis. Sixteen patients were young females. Two patients were males. Nine patients underwent surgical procedures. One young female underwent a PTA. All eight asymptomatic patients were only medically treated. One patient died some days after an aorto-bicarotid bypass graft due to acute myocardial infarction. Two other patients died two and four years after intervention for renal and cardiac failure respectively. One patient after an aorto bicarotid bypass underwent a left hemiplegia due to thrombosis of the right graft branch. All the other 14 patients either surgically or medically treated are well and are under strict surveillance through rigorous follow-up. The 10 patients who underwent surgical or interventional radiological treatment were certainly the most seriously affected patients and were symptomatic (presented neurological disturbances or a severe hypertensive state). This fact explains, to some extent, the mortality and morbidity rate observed in this group. The seven medically treated patients were completely asymptomatic in spite of a major involvement of various vascular districts.

[Major interventions in vascular surgery with and without autotransfusion. Comparison of coagulation and hemodynamic parameters]. / Interventi di chirurgia vascolare maggiore con e senza autotrasfusione. Confronto di parametri coagulativi ed emodinamici.

Twenty out of 32 patients undergoing major vascular surgery received autologous blood transfusion and hemostatic and hematological parameters were evaluated in both transfused and non-transfused groups. Blood and urine samples were also analysed. No acceleration of the hemostatic process was observed during either surgery or the postoperative period; free hemoglobin present in reinfusion sacks (?), even in high doses, was immediately restored to normal values in the patient's circulation. A slight effect was observed at the renal level alone. These findings confirm the good qualitative level of the procedures used to reinfuse blood lost during surgery.

[The rupture of an abdominal aortic aneurysm in a patient with a fused horseshoe kidney. A clinical case report]. / Rottura di aneurisma dell'aorta addominale in paziente portatore di rene fuso a "ferro di cavallo". Descrizione del caso clinico.

An emergency operation for a ruptured aortic aneurysm can be very difficult in the presence of horseshoe kidney. This concomitance is rare but represents an interesting challenge for vascular surgeons. The authors report a case of 80 year old male patient who reached the operating theatre for ruptured aortic aneurysm. Unexpectedly a preaortic horseshoe kidney was found. The authors describe the surgical technique adopted to get rapidly to the aneurysm collar preserving kidney integrity.

Cardiological risk in patients undergoing abdominal aortic aneurysm surgery. An analysis of 523 cases.

The paper reports a consecutive series of 523 patients undergoing abdominal aortic aneurysm surgery, paying particular attention to the cardiological risk factor. Coronary disease was present in 167 (31.9%) cases and the overall mortality rate was 1.7%: 5 cases (3%) in the group of coronary disease patients; 4 cases (1.2%) in the group of noncoronary disease patients. All fatal cardiac complications during the postoperative period occurred in those patients who presented coronary cardiopathies before surgery. The preoperative cardiological risk was therefore much greater and more significant in this group of patients. This risk factor should therefore be assessed prior to the operation in order to prepare the necessary medical or even surgical therapeutic measures.

[Clinical aspects, diagnosis and therapy of thrombosis of an abdominal aortic aneurysm]. / Clinica, diagnostica e terapia degli aneurismi dell'aorta addominale trombizzati.

In a consecutive series of 640 surgically treated abdominal aortic aneurysms, 4 patients affected by thrombosis of the abdominal aortic aneurysm were observed. All aneurysms were five centimeters in diameter or smaller and all the patients complained of chronic claudication. In spite of the old opinion that considered abdominal aneurysmal thrombosis an useful event, we believe that the angiographic and clinical picture of juxta-renal aortic occlusion points to surgical treatment.