The withdrawal from oncogenetic counselling and testing for hereditary and familial breast and ovarian cancer. A descriptive study of an Italian sample

<p>Abstract</p> <p>Background</p> <p>Oncogenetic counselling is seldom followed through, even when individuals are eligible according to the test criteria. The basic variables which influence the decision to undergo the genetic counselling process are: risk perception, expected benefit or limitations of genetic testing, general psychological distress or cancer-specific distress, lack of trust in one's emotional reactions when faced with negative events, expected level of family support and communications within the family. The aim of this study was to describe the psychosocial variables of an Italian sample that forgoes genetic counselling.</p> <p>Methods</p> <p>From May 2002 to December 2006 a psychological questionnaire was sent out to one hundred and six subjects, who freely requested a first genetic informative consultation, and never asked to have a second visit and the family tree drawn up in order to inquire about their eligibility for genetic testing. Statistical analysis was performed by Pearson chi-square test, t-test and Spearman RHO coefficient.</p> <p>Results</p> <p>The survey presents a lack of emotional cohesion and structured roles and rules within the family system and a positive correlation between the number of children, anxiety and risk perception. The main reasons for giving up on counselling were a sense that testing was a waste of time and the inability to emotionally handle the negative consequences of the test outcome. The subjects who maintained that test and an early diagnosis were a "waste of time" experienced more anxiety.</p> <p>Conclusion</p> <p>The study revealed the importance to ac knowledging the whole persona and their family system as well as provide information highlighting usefulness of early diagnosis.</p

Heart rate variability analysis in postural orthostatic tachycardia syndrome: a case report

The authors present a case of 36 year old male patient with idiopathic postural orthostatic tachycardia syndrome (POTS) diagnosed during head-up tilt testing. Power spectral analysis of heart rate variability (HRV) during the tilt test revealed that the ratio of low and high frequency powers (LF/HF) increased with the onset of orthostatic intolerance. This analysis confirmed in our patient a strong activation in sympathetic tone

The role of echocardiography in SARS-CoV-2 pandemic: a compromise among appropriateness, safety and clinical impact

SARS-CoV-2 infection, responsible for COVID-19, can determine cardiac events, which require a quick diagnosis and management, and should not be overlooked due to the presence of COVID-19 infection. In some cases, cardiovascular symptoms can also be the first and only manifestation of SARS-CoV-2 infection. In patients with COVID-19, the full cardiovascular disease diagnostic algorithm can be hindered by logistic restrain mainly derived from the difficulty of transporting patients in critical conditions to Radiology or Hemodynamics wards. The echocardiography in SARS-CoV-2 pandemic can help for differential diagnosis of cardiac events, which can be related or unrelated by the infection and can likely impact on short-term prognosis. Indeed, transthoracic echocardiography plays a key role in the screen for CV complications of COVID-19 infection: it must be focused cardiac ultrasound study (FoCUS) performed at bedside. All transthoracic, transesophageal and stress echocardiograms in patients in which test results are unlikely to change the management strategy should be postponed

Cremona Beside Caregivers: una ricerca per assistere chi assiste

Stato dell’arte In Europa la fascia di popolazione over 65 rappresenta il 19% della popolazione, mentre In Italia ha già superato il 22%. Tuttavia, la distribuzione di queste persone non è omogenea sul territorio, ma presenta una maggiore presenza nelle aree rurali dove tale fascia di popolazione ha un alto rischio di esclusione sociale e fragilità (Burholt &amp; Dobbs, 2012). Sebbene siano stati posti per molto tempo in secondo piano, i bisogni delle persone anziane nelle aree rurali sono di primario interesse, soprattutto per la diversità di richieste e di necessità che ci si aspetta di trovare in queste aree rispetto a zone con buona presenza di servizi. In questi contesti, infatti, un ruolo cruciale nell’assistenza agli anziani viene svolto dai caregiver, che si trovano largamente caricati del supporto all’invecchiamento (Sixsmith et al., 2014). Nel 2009 è stato infatti rilevato che in Italia due terzi delle cure necessarie alle persone anziane venivano assicurate da loro parenti (Troisi &amp; Knodratowitz, 2013), anche per garantire c alle persone anziane di poter continuare a vivere nei contesti a loro cari, attraverso pratiche di “aging in place” - cioè di invecchiamento attivo nel proprio contesto comunitario di vita (Rodríguez-Rodríguez &amp; Sánchez-González, 2016). In questo scenario, la provincia di Cremona rappresenta per sue caratteristiche territoriali e sociali un osservatorio privilegiato per studiare le necessità della popolazione anziana e di chi li assiste, anche nell’ottica di promuovere una rappresentazione propositiva e partecipe di questa fase della popolazione alla co-definizione dei servizi e dei prodotti ad essi dedicati. Date queste premesse, l’obiettivo di questo progetto di ricerca è di condurre una mappatura degli stakeholders sul territorio Cremonese, delle risorse presenti e dei bisogni scoperti, al fine di orientare attività di supporto dedicate prioritariamente al target dei caregiver. Approccio metodologico A copertura dei suddetti obiettivi si è definito un disegno di ricerca multi-fase e multi-metodo così composto: Fase 1 - analisi sistematica dei database statistici Istat, volta a descrivere le caratteristiche socio-demografiche della popolazione anziana cremonese, sia attuale che in trend storico, comparandola con quella nazionale; Fase 2 - Desk analysis per identificare i servizi sanitari, socio-sanitari e sociale attivi sul territorio a favore dell’anziano fragile che vive a casa, in termini di ruoli e i professionisti coinvolti, le collaborazioni formali e informali tra professionisti e tra Enti; regimi dietetici proposti agli anziani (i.e. in famiglia nelle RSA, nelle cooperative, nell’ADI…); Fase 3 - Interviste qualitative biografiche a stakeholders locali (i.e. rappresentanti Fondazioni, Cooperative, Comuni, RSA, associazioni di volontariato…) riconosciuti per la loro centralità nel rapporto con anziani e caregiver, al fine di approfondire le loro esperienze, l’analisi delle priorità e delle necessità presenti sul territorio. Principali risultati I dati demografici confermano la tendenza alla senilizzazione della provincia di Cremona: è la seconda provincia con la percentuale di over 65 della Regione Lombardia, dopo Pavia (Elaborazione Ires L. Morosini su dati Istat, 2019). Negli ultimi venti anni, tale percentuale è cresciuta dal 23,7% nel 2002 al 26,8% di oggi (Istat, 2021). La durata di vita attesa degli anziani cremonesi oltre i 65 anni resta inferiore a quella media lombarda: 22,1 anni nelle donne e 18,4 negli uomini, di cui la maggior parte trascorsi “senza limitazioni funzionali” (Elaborazione Ires L. Morosini su dati Istat, 2019). Tuttavia, nel 2016 il 10,8% degli ultrasessantacinquenni residenti nella Provincia di Cremona beneficiava di un’indennità di accompagnamento, il 13,8% tra le donne e il 6,9% tra gli uomini di quella fascia di età. Dalla mappatura degli stakeholders sono stati identificati 36 enti del settore sanitario, 35 del terzo settore e 7 istituzioni chiave per lo studio del fenomeno degli anziani e dei loro caregiver. Dalle prime interviste biografiche condotte emerge la necessità di dotarsi di strumenti di mappatura sistematica della fragilità senile; inoltre gli stakeholder sottolineano l’importanza di creare spazi di lavoro multidisciplinari che possano operare nelle diverse aree di ci la fragilità senile si compone (sanitaria, sociale, alimentare, economica, …). Conclusioni I primi risultati confermano il bisogno del territorio cremonese nell’ambito dell’assistenza agli anziani fragili: le attività e le risorse finora messe in campo necessitano di essere orchestrate per operare in maniera efficace e sostenibile per il territorio stesso e per le persone che lo vivono

Mutation update for the ACTN2 gene

ACTN2 encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z-disk, functions as a link between the anti-parallel actin filaments. This important structural protein also binds N-terminal titins, and thus contributes to sarcomere stability. Previously, ACTN2 mutations have been solely associated with cardiomyopathy, without skeletal muscle disease. Recently, however, ACTN2 mutations have been associated with novel congenital and distal myopathy. Previously reported variants are in varying locations across the gene, but the potential clustering effect of pathogenic locations is not clearly understood. Further, the genotype-phenotype correlations of these variants remain unclear. Here we review the previously reported ACTN2-related molecular and clinical findings and present an additional variant, c.1840-2A>T, that further expands the mutation and phenotypic spectrum. Our results show a growing body of clinical, genetic, and functional evidence, which underlines the central role of ACTN2 in the muscle tissue and myopathy. However, limited segregation and functional data are available to support the pathogenicity of most previously reported missense variants and clear-cut genotype-phenotype correlations are currently only demonstrated for some ACTN2-related myopathies.Peer reviewe

Increase of Parkin and ATG5 plasmatic levels following perinatal hypoxic‐ischemic encephalopathy

Brain injury at birth is an important cause of neurological and behavioral disorders. Hypoxic‐ischemic encephalopathy (HIE) is a critical cerebral event occurring acutely or chronically at birth with high mortality and morbidity in newborns. Therapeutic strategies for the prevention of brain damage are still unknown, and the only medical intervention for newborns with moderate‐to‐severe HIE is therapeutic hypothermia (TH). Although the neurological outcome depends on the severity of the initial insult, emerging evidence suggests that infants with mild HIE who are not treated with TH have an increased risk for neurodevelopmental impairment; in the current clinical setting, there are no specific or validated biomarkers that can be used to both correlate the severity of the hypoxic insult at birth and monitor the trend in the insult over time. The aim of this work was to examine the presence of autophagic and mitophagic proteins in bodily fluids, to increase knowledge of what, early at birth, can inform therapeutic strategies in the first hours of life. This is a prospective multicentric study carried out from April 2019 to April 2020 in eight third‐level neonatal intensive care units. All participants have been subjected to the plasma levels quantification of both Parkin (a protein involved in mitophagy) and ATG5 (involved in autophagy). These findings show that Parkin and ATG5 levels are related to hypoxic‐ischemic insult and are reliable also at birth. These observations suggest a great potential diagnostic value for Parkin evaluation in the first 6 h of life

The withdrawal from oncogenetic counselling and testing for hereditary and familial breast and ovarian cancer. A descriptive study of an Italian sample

<p>Abstract</p> <p>Background</p> <p>Oncogenetic counselling is seldom followed through, even when individuals are eligible according to the test criteria. The basic variables which influence the decision to undergo the genetic counselling process are: risk perception, expected benefit or limitations of genetic testing, general psychological distress or cancer-specific distress, lack of trust in one's emotional reactions when faced with negative events, expected level of family support and communications within the family. The aim of this study was to describe the psychosocial variables of an Italian sample that forgoes genetic counselling.</p> <p>Methods</p> <p>From May 2002 to December 2006 a psychological questionnaire was sent out to one hundred and six subjects, who freely requested a first genetic informative consultation, and never asked to have a second visit and the family tree drawn up in order to inquire about their eligibility for genetic testing. Statistical analysis was performed by Pearson chi-square test, t-test and Spearman RHO coefficient.</p> <p>Results</p> <p>The survey presents a lack of emotional cohesion and structured roles and rules within the family system and a positive correlation between the number of children, anxiety and risk perception. The main reasons for giving up on counselling were a sense that testing was a waste of time and the inability to emotionally handle the negative consequences of the test outcome. The subjects who maintained that test and an early diagnosis were a "waste of time" experienced more anxiety.</p> <p>Conclusion</p> <p>The study revealed the importance to ac knowledging the whole persona and their family system as well as provide information highlighting usefulness of early diagnosis.</p

Subjective versus objective risk in genetic counseling for hereditary breast and/or ovarian cancers

Background. Despite the fact that genetic counseling in oncology provides information regarding objective risks, it can be found a contrast between the subjective and objective risk. The aims of this study were to evaluate the accuracy of the perceived risk compared to the objective risk estimated by the BRCApro computer model and to evaluate any associations between medical, demographic and psychological variables and the accuracy of risk perception. Methods. 130 subjects were given medical-demographic file, Cancer and Genetic Risk Perception, Hospital Anxiety-Depression Scale. It was also computed an objective evaluation of the risk by the BRCApro model. Results. The subjective risk was significantly higher than objective risk. The risk of tumour was overestimated by 56%, and the genetic risk by 67%. The subjects with less cancer affected relatives significantly overestimated their risk of being mutation carriers and made a more innacurate estimation than high risk subjects. Conclusion. The description of this sample shows: general overestimation of the risk, inaccurate perception compared to BRCApro calculation and a more accurate estimation in those subjects with more cancer affected relatives (high risk subjects). No correlation was found between the levels of perception of risk and anxiety and depression. Based on our findings, it is worth pursuing improved communication strategies about the actual cancer and genetic risk, especially for subjects at "intermediate and slightly increased risk" of developing an hereditary breast and/or ovarian cancer or of being mutation carrier

Chronic constipation diagnosis and treatment evaluation: The "CHRO.CO.DI.T.E." study

Background: According to Rome criteria, chronic constipation (CC) includes functional constipation (FC) and irritable bowel syndrome with constipation (IBS-C). Some patients do not meet these criteria (No Rome Constipation, NRC). The aim of the study was is to evaluate the various clinical presentation and management of FC, IBS-C and NRC in Italy. Methods: During a 2-month period, 52 Italian gastroenterologists recorded clinical data of FC, IBS-C and NRC patients, using Bristol scale, PAC-SYM and PAC-QoL questionnaires. In addition, gastroenterologists were also asked to record whether the patients were clinically assessed for CC for the first time or were in follow up. Diagnostic tests and prescribed therapies were also recorded. Results: Eight hundred seventy-eight consecutive CC patients (706 F) were enrolled (FC 62.5%, IBS-C 31.3%, NRC 6.2%). PAC-SYM and PAC-QoL scores were higher in IBS-C than in FC and NRC. 49.5% were at their first gastroenterological evaluation for CC. In 48.5% CC duration was longer than 10 years. A specialist consultation was requested in 31.6%, more frequently in IBS-C than in NRC. Digital rectal examination was performed in only 56.4%. Diagnostic tests were prescribed to 80.0%. Faecal calprotectin, thyroid tests, celiac serology, breath tests were more frequently suggested in IBS-C and anorectal manometry in FC. More than 90% had at least one treatment suggested on chronic constipation, most frequently dietary changes, macrogol and fibers. Antispasmodics and psychotherapy were more frequently prescribed in IBS-C, prucalopride and pelvic floor rehabilitation in FC. Conclusions: Patients with IBS-C reported more severe symptoms and worse quality of life than FC and NRC. Digital rectal examination was often not performed but at least one diagnostic test was prescribed to most patients. Colonoscopy and blood tests were the "first line" diagnostic tools. Macrogol was the most prescribed laxative, and prucalopride and pelvic floor rehabilitation represented a "second line" approach. Diagnostic tests and prescribed therapies increased by increasing CC severity