A methodological framework for rigorous systematic reviews: Tailoring comprehensive analyses to clinicians and healthcare professionals.

Systematic reviews represent a fundamental study design, providing the highest level of evidence across diverse research inquiries, encompassing both public health and clinical research and practice. However, for healthcare professionals, the process of selecting, synthesizing, and interpreting evidence can be challenging, and requires specialized skills. Therefore, it is imperative to explore innovative solutions aimed at simplifying and making the traditional systematic review process more accessible while ensuring the validity and reliability of results. In this perspective, our research objective is to develop a systematic review framework that, while maintaining a rigorous methodological approach, streamlines the process for healthcare professionals. This study describes such approach in every phase, from the collection of evidence to the writing of the text, creating a guide for the healthcare professional who approaches this type of research. The qualitative and organizational analysis tools are also described, providing useful information for the use of non-paid programs. This systematic review aims to develop a framework with a rigorous methodological approach that allows simplify the process for clinicians and healthcare professionals. The implementation of this methodology in clinical practice offers new perspectives to ensure a thoughtful consideration and application of scientific evidence and opens the way to innovative and easily accessible solutions to facilitate the conduct of systematic reviews in the clinical care setting.

Dysgeusia and Chronic Kidney Disease: A Scoping Review.

Dysgeusia is a common altered taste perception in chronic kidney disease patients. The study aims to identify available treatments for educating, screening, and clinically managing dysgeusia in this population. A scoping review was conducted following the protocol of Arksey and O'Malley, incorporating the Joanna Briggs Institute methodology, and adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guidelines. Among the 424 identified records, 13 studies were included. Screening methodologies, educational strategies, particularly a hospital-based program focusing on salt reduction, showed a significant improvement in dysgeusia (P < .001). The identified clinical treatments exclusively included oral zinc supplementation, with dosages ranging from 50 to 220 mg, reporting heterogeneous results not consistent across different studies. The personalized management of dysgeusia associated with chronic kidney disease is crucial, requiring targeted education and treatment protocols to prevent and address nutritional complications such as malnutrition.

Olfactory Dysfunctions and Chronic Kidney Disease: a Scoping Review.

BACKGROUND: Chronic kidney disease (CKD) represents a significant global public health challenge. Among the various clinical complications associated with CKD, olfactory dysfunction has been identified as a factor that substantially affects the quality of life of patients. This study aims to systematically explore the prevalence, implications, and therapeutic avenues of anosmia in CKD patients. METHODS: This scoping review utilized the Arksey and O'Malley framework, incorporating the Joanna Briggs Institute methodology, and followed PRISMA-ScR guidelines. The research question, formulated using the PIO framework, guided a thorough search of databases (PubMed/Medline, Embase, CINAHL, Cochrane Library) and grey literature sources. Eligibility criteria focused on studies involving CKD patients with olfactory dysfunctions. RESULTS: From an initial pool of 832 articles, 17 studies met the criteria, providing insights into olfactory alterations in 4,025 CKD patients. The data that have been reported, define that 55,34% of the sample experienced olfactory changes and the 8.5% experienced anosmia. This review revealed a complex interplay of factors contributing to olfactory alterations, including uremic toxins, dialysis procedures, electrolyte imbalances, and malnutrition. Findings suggested the potential recovery of olfactory function following kidney transplantation. Various assessment tools were utilized, with the University of Pennsylvania Smell Identification Test and Sniffin' Sticks emerging as the primary instruments. CONCLUSIONS: The observed variability in findings highlights the need for continued research to understand the mechanisms, enhance therapies, and improve quality of life for CKD patients with olfactory dysfunctions. Future studies should employ standardized methods, explore new assessment tools, and prioritize longitudinal assessments to advance our understanding and management of olfactory dysfunctions in this population.

Parents' and nurses' affective perception of a pictorial intervention in a pediatric hospital environment: Quasi-experimental design pre-post-testing.

BACKGROUND/AIM: The humanization of the hospital environment of pediatric departments represents an area of research and intervention on improving the quality of life for hospitalized patients, but also that one of relatives and health professionals. The aim of the study was to test, in a sample of nurses and hospitalized children's parents, whether the pictorial intervention impacted the perceptions of affective qualities of hospital environment. METHODS: This quasi-experimental design study investigated the effects of a pictorial humanization intervention which consisted of some naturalistic and colorful illustrations in the corridor of two pediatric wards of an Italian hospital. A total of 425 parents of hospitalized children and 80 nurses were asked to complete the Italian version of the "Scale of measurement of the affective qualities of places" in two different moments: 1) before the pictorial intervention and 2) three months after its implementation. RESULTS: For all participants (parents and nurses), results showed a significant effect of pictorial intervention with the four positive dimensions investigated (Relaxing, Exciting, Pleasant, and Stimulating) reporting higher scores after being performed it, and with the four negative dimensions (Distressing, Gloomy, Unpleasant, Sleepy) showing lower scores. CONCLUSIONS: Data suggest that the pictorial intervention could be particularly useful to create more welcoming hospital environments, reducing distress levels from hospitalized patients, but also of relatives and healthcare professionals. IMPLICATIONS TO PRACTICE: Pictorial interventions improve the emotional atmosphere in pediatric healthcare settings. Integrating visual elements related to care and healing enhances user experience, creating a more welcoming environment.

Health-related quality of life in outpatients with chronic liver disease: a cross-sectional study.

BACKGROUND: The symptoms and complications related to chronic liver disease (CLD) have been shown to affect patient well-being. Currently there is limited research data on how CLD severity may affect both health-related quality of life (HRQOL) and the development of depressive symptoms in CLD patients. Moreover, the ongoing advances in CLD treatment, and its effect on HRQOL, highlight the need for further studies. Therefore, the aim of the present study was to evaluate if the CLD severity may affect the HRQOL and the development of depressive symptoms. METHODS: A cross-sectional study was conducted. Patients with CLDs were identified at their regular visits to the outpatient clinic of the Sant'Orsola-Malpighi Hospital in Bologna, between September 2016 and July 2017. HRQOL was measured with Short Form 12 (SF-12) and Nottingham Health Profile (NHP) questionnaires; depressive symptoms were measured with Beck Depression Inventory-II (BDI). CLD severity was measured using the MELD score and the sample was stratified into five classes according to it. Group comparisons were conducted using the Kruskal-Wallis test. RESULTS: Two hundred and fifty-four patients were included. Mean age was 62.84 years (SD 11.75) and 57.9% were male. Most participants were affected by compensated cirrhosis (140.2%) and chronic hepatitis (40.2%), with a disease duration ≥ 5 years (69.3%). Regarding the MELD score, 67.7% of patients belonged to Class I, 29.9% to Class II, and 2.4% to Class III. There were not patients belonging to the Classes IV and V. No statistically significant differences were found in all SF-12 and NHP domains between the MELD classes, except for CLD impact on sexual life and holidays (p = 0.037 and p = 0.032, respectively). A prevalence rate of 26% of depressive symptoms was reported, no statistically significant differences were found in BDI-II total scores between the three MELD classes. CONCLUSIONS: All domains of HRQOL and depression were altered in CLDs patients, nevertheless CLD severity was not confirmed as an affecting factor for HRQOL.

Sudden shift to remote genetic counseling during the COVID-19 pandemic: Experiences of genetics professionals in Italy.

The 2020 COVID-19 pandemic has rendered in-person provision of genetic counseling impossible for prolonged periods in many countries, mandating a sudden shift to remote delivery. We used qualitative thematic analysis to explore Italian genetics professionals' experience with remote genetic counseling. Fourteen group and four individual interviews were conducted after participants had delivered one or more remote sessions via videoconference or on the telephone. Data were coded and grouped under themes. Three main themes were identified as follows: (a) technical and logistical issues, (b) communication issues, and (c) clinical content and outcome of the session. The participants acknowledged that not having to travel to the clinic saves consultands time and expense. They also highlighted that not sharing a physical space with consultands and having to rely on technology can negatively impact on effective communication, building trusting relationships, and performing accurate psychosocial assessments. Regarding the clinical content of sessions, remote genetic counseling was perceived to favor greater focus and succinct, to the point communication. However, participants also felt uncomfortable not being able to use visual aids to support the explanation of complex concepts. Moreover, demographics and the socio-cultural status of consultands emerged as factors influencing the outcome of remote genetic counseling sessions. Finally, participants reported feeling that more experience with this novel approach would improve their confidence and their ability to adapt their counseling skills as appropriate. Based on these findings, we suggest that effective, equitable provision of remote genetic counseling will require an infrastructure that is able to support video counseling, sharing of clinical documents and visual aids, and connect with a wide range of devices. Moreover, the structure of sessions should be tailored to the specific requirements of remote genetic counseling and suitable training efforts should be promoted to enhance professionals' communication skills.

Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing.

Exome/genome sequencing (ES/GS) is increasingly becoming routine in clinical genetic diagnosis, yet issues regarding how to disclose and manage secondary findings (SFs) remain to be addressed, and limited evidence is available on patients' preferences. We carried out semi-structured interviews with 307 individuals undergoing clinical genetic testing to explore their preferences for return of SFs in the hypothetical scenario that their test would be performed using ES/GS. Participants were 254 females (82.7%) and 53 males (17.3%), aged 18-86 years; 73.9% (81.1% of those with lower education levels) reported no prior knowledge of ES/GS. Prior knowledge of ES/GS was more common among patients tested for Mendelian conditions (34.5%), compared to those undergoing cancer genetic testing (22.3%) or carrier screening (7.4%). Despite this reported lack of knowledge, most participants (213, 69.6%) stated they would prefer to be informed of all possible results. Reasons in favor of disclosure included wanting to be aware of any risks (168; 83.6%) and to help relatives (23; 11.4%), but also hope that preventive measures might become available in the future (10, 5%). Conversely, potential negative impact on quality of life was the commonest motivation against disclosure. Among 179 participants seen for cancer genetic counseling who were interviewed again after test disclosure, 81.9% had not heard about ES/GS in the meantime; however, the proportion of participants opting for disclosure of any variants was lower (116; 64.8%), with 36 (20.1%) changing opinion compared to the first interview. Based on these findings, we conclude that genetic counseling for ES/GS should involve enhanced education and decision-making support to enable informed consent to SFs disclosure.

An Analysis of Clinical, Surgical, Pathological and Molecular Characteristics of Endometrial Cancer According to Mismatch Repair Status. A Multidisciplinary Approach.

Since 2016, our hospital has applied tumor testing with immunohistochemistry (IHC) in endometrial cancer in order to detect mutations of mismatch repair genes (MMR). All cases with MMR deficiency proteins expression are sent for genetic testing, except those with MLH1 protein deficiency, in which case genetic testing is performed if negative for promoter hypermethylation. The primary aim of this study was to investigate the ability of our algorithm to identify Lynch syndrome (LS). The Secondary aims were to investigate the relationship between MMR status and clinicopathological features and prognosis of primary endometrial cancer (EC). From January 2016 to December 2018, 239 patients with EC were retrospectively analyzed and subdivided according to MMR status. Patients were divided in three groups: MMR proficient, LS and Lynch-like cancer (LLC). LS was characterized by a lower age and BMI, more use of contraceptive and less use of hormonal replacement therapy, nulliparity and a trend versus a better prognosis. LLC appeared more related to MMR proficient than LS and exhibited a more aggressive behavior. Our multidisciplinary approach permitted a correct diagnosis of germline mutation in patients with newly diagnosis EC and it confirmed clinicopathologic and prognostic characteristics of LS.

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

PURPOSE: Genetic advances mean patients at risk of genetic conditions can be helped through testing, clinical screening, and preventive treatment, but they must first be identified to benefit. Ensuring quality of genetic care for patients requires genetic expertise in all health services, including primary care. To address an educational shortfall, a series of e-learning resources was developed in six languages to equip primary care professionals with genetic skills relevant for practice. The purpose of the study was to evaluate these resources using Kirkpatrick's framework for educational outcomes. METHODS: Mixed methods (qualitative and quantitative) were used over four phases of the study. RESULTS: A high level of satisfaction with the resources was reported. Knowledge and skills improved significantly after using the education material. Participants reported changes in confidence and practice behavior, including family history taking, seeking advice from specialists and referring patients. The resources helped users to learn how to explain genetics. Many visited the resources repeatedly and some used them to educate colleagues or students. CONCLUSION: Gen-Equip modules are effective in improving genetic knowledge, skills, and attitudes for primary care professionals. They provide both continuing professional development and just-in-time learning for a potentially large global audience at a practical level.

Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

This Article was originally published under Nature Research's License to Publish, but has now been made available under a [CC BY 4.0] license. The PDF and HTML versions of the Article have been modified accordingly.

Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy.

As the impact of breast cancer (BC) risk assessment in asymptomatic women with a family history of BC had never been explored in Italy, we performed a study on a retrospective series of women who had undergone BC risk assessment. To this aim, a semi-structured telephone interview was administered to 82 women. Most participants considered the information received as clear (96.2 %) and helpful (76.8 %). Thirty-eight (46.3 %) stated that their perceived risk of BC had changed after the counseling: for 40.2 % it had decreased, for 6.1 % increased; however, women highly overestimating their risk at the baseline (≥ 4-fold) failed to show improvements in risk perception accuracy. Sixty-six women (80.5 %) stated they had followed the recommended surveillance, while 19.5 % had not, mainly due to difficulties in arranging examinations. Most women (89.0 %) had shared the information with their relatives, with 57.3 % reporting other family members had undertaken the recommended surveillance. BC risk assessment was associated with high rates of satisfaction and had a favorable impact on risk perception in a subgroup of women. The impact on surveillance adhesion extended to relatives. Organized programs for identification and surveillance may help identify a larger fraction of at-risk women and overcome the reported difficulties in arranging surveillance.

Prognostic Factors of Peritonitis in Patients on Peritoneal Dialysis: a Retrospective Observational Study.

Background/Objectives. Peritoneal dialysis stands as an established form of renal replacement therapy; yet peritonitis remains a major complication associated with it. This study, analyzing two decades of data from the Nephrology, Dialysis, and Hypertension Division of the University-Hospital IRCCS in Bologna, aimed to identify prognostic factors linked to peritonitis events. It also sought to evaluate the suitability of different peritoneal dialysis techniques, with a focus on Automated Peritoneal Dialysis (APD) and Continuous Ambulatory Peritoneal Dialysis (CAPD). Additionally, the study assessed the impact of an educational program introduced in 2005 on peritonitis frequency. Methods. Conducting an observational, retrospective, single-center study, 323 patients were included in the analysis, categorized based on their use of APD or CAPD. Results. Despite widespread APD usage, no significant correlation was found between the dialysis technique (APD or CAPD) and peritonitis onset. The analysis of the educational program's impact revealed no significant differences in peritonitis occurrence. However, a clear relationship emerged between regular patient monitoring at the reference center and the duration of peritoneal dialysis. Conclusions. Despite the absence of a distinct association between peritonitis onset and dialysis technique, regular patient monitoring at the reference center significantly correlated with prolonged peritoneal dialysis duration.

Knowledge of genetics and the role of the nurse in genetic health care: a survey of Italian nurses.

AIM: To report a study of Italian nurses' understanding of genetics. The objectives were to explore nurses' basic knowledge of genetics, their perceptions of the relevance of genetics and their opinions about the role of the genetic nurse. BACKGROUND: As the knowledge of the genetic basis for disease has developed, pressure to give genetic healthcare services for a larger number of individuals has increased. Specialist genetic nurses currently work in many countries; however, there are very few specialist genetic nurses in Italy and the preparedness of Italian nurses to give care for people with or at risk for genetic conditions is unclear. DESIGN: A cross-sectional survey. METHODS: The survey was administered over 3 months during 2011. Registered Nurses aged 21-65 years were recruited via the website of the Italian nurse registration body, social network sites, hand-distributed flyers and email. Three hundred and eight-five (90%) nurses completed the survey. Data were analysed using descriptive statistics, Kruskal-Wallis tests for distribution and Spearman's Rho analysis of correlations. RESULTS: The majority of respondents correctly answered at least four of five genetics knowledge questions. There were no statistically significant difference between knowledge scores when analysed according to age, but scores were positively correlated with higher academic qualifications and previous genetics education. A minority of respondents believed genetics was highly relevant to the nursing role. CONCLUSION: It is essential to ensure that educational provision for nurses includes not only the genetic concepts underpinning health and disease, but also how these are applied to nursing care.

Genetic counseling: a survey to explore knowledge and attitudes of Italian nurses and midwives.

In the past, genetic services were delivered to a limited number of families with rare conditions. However, genomics is now being applied to both inherited and common diseases in a range of healthcare settings, and there is a greater need for nurses to understand the basic concepts of genetic health care. The aim of this cross-sectional survey was to explore the understanding and attitudes of Italian nurses toward genetic health care. A questionnaire was completed by 102 nurses and midwives (85% response rate). Of these, 61% believed that genetic counseling was only an informative and advisory process, and 53.9% could not specify to whom the counseling was aimed. When asked to identify nurses' role in genetic health care, 62% of the respondents believed they had no role, although 28% believed that nurses could provide information, support, and counseling. These findings indicate that nurses have only partial knowledge of the issues surrounding genetic health care. To prepare nurses for the post-genomic era, improved genetic education at the undergraduate and postgraduate levels is required.

How to structure Microsoft Excel documents for systematic reviews.

BACKGROUND: Systematic reviews are complex and involve time-consuming, deep research in the academic literature to search, extract data, assess their quality and report the results. Digital tools and software have been developed to simplify different phases of this process but some of these are not free to use. Microsoft Excel is typically accessible to a great many researchers free of charge, so using it involves no further costs. AIM: To explain how to use Microsoft Excel to create transparent and complete reports for systematic reviews. DISCUSSION: The author's method includes six steps: downloading the references, preparing worksheets, removing any duplicate references, screening the references by title and abstract, screening the full text of references, and listing the articles for inclusion in the review. CONCLUSION: The Excel method is efficient and free and can produce transparent and complete reports of systematic reviews. It is a valid alternative to the systematic reviews produced by advanced tools and software. IMPLICATIONS FOR PRACTICE: The documents produced by this method are a good source for the direct production of scientific texts.

Assessment of healthcare application quality: Development of a standardized methods for healthcare professionals.

The advancement of the mobile app market is reshaping healthcare, emphasizing the imperative for quality and efficacy in health applications. This methodology has been devised to assess mobile health applications, aiming to assist healthcare professionals in selecting apps for e-healthcare consumers. Key facets of this approach are: •A stringent selection process within mobile app stores•A standardized assessment using the Mobile App Rating Scale to achieve consistent and replicable evaluations, systematically organizing app evaluations•A comprehensive framework guiding healthcare practitioners in determining which apps to integrate into clinical practice and which to exclude Central to this method is the emphasis on distinguishing apps that enhance clinical practice from those that fall short in important areas such as the effectiveness of proposed health features, data accuracy, adherence to clinical guidelines, data security, and user privacy. With heightened attention to usability and accessibility, the methodology also addresses the common risks inherent in mHealth implementation, ensuring that selected apps not only meet technical criteria but also align with the broader healthcare ecosystem's needs and challenges.

Chronic kidney disease and mobile health: quality of renal nutritional APPs in Italy.

BACKGROUND AND AIM: Patient with chronic kidney disease (CKD) must adhere to a nutritional therapy characterized by a restrictive dietary scheme. Nutritional self-care can be enhanced through the use of nutritional apps. The purpose of this study is to evaluate the characteristics of specific nutritional apps for chronic renal failure available in Italy. METHODS: A systematic search of mobile apps was conducted by two academic researchers in three Italian App stores: Google Play Store, Apple Store and Huawei AppGallery. Of the 1602 apps identified, 2 apps (Miku; MyFIR) were evaluated with the Italian version of a Mobile Application Rating Scale (MARS-ITA) by a multidisciplinary team of 20 professionals. RESULTS: The study found that the two selected apps, available in the Google Play Store and Apple Store, aim to increase well-being through the acquisition of knowledge and behavioral change; but none identify health goals that should be achieved. The strategies used by the two applications are: information, education, monitoring and cognitive-behavioral challenge. The technical analysis showed adequate protection of personal data but only the most downloaded app (Miku) provides the possibility to share content, to send reminders and to browse when offline. CONCLUSIONS: The main Italian app stores have two applications to monitor physical health and nutrition in patients with renal disease. Although these are free, easily accessible, navigable and valid in terms of health monitoring and information, greater availability of the offer would be desirable.

Factors predicting BRCA1/2 pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis.

AIM: To provide accurate figures of the frequency of specific clinical features in ovarian cancer (OC) associated with germline BRCA1/2 pathogenic variants and to define their relevance in predicting the presence of a germline pathogenic variant in these genes. METHODS: A systematic review of papers published from 1995 to February 2022 was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Data from eligible papers were synthesised through meta-analysis. RESULTS: Thirty-seven papers were reviewed, including a total of 12 886 patients with OC. Among BRCA carriers, 86.4% displayed serous type, 83.3% high grade (G3), 83.7% FIGO (The International Federation of Gynecology and Obstetrics) stage III/IV, 39.7% age at diagnosis ≤50 years and 18.1% personal breast cancer history, while the frequency of these features in non-carriers resulted significantly lower (p<0.001). The meta-analysis showed that the strongest predictor of BRCA1/2 pathogenic variants was a personal breast cancer history (OR 5.21, 95% CI 4.02 to 6.55, compared with no previous breast cancer), followed by high grade (OR 2.47, 95% CI 1.97 to 3.10, compared with low/intermediate grade), serous histotype (OR 2.33, 95% CI 2.07 to 2.64, compared with other histotypes), advanced (III/IV) FIGO stage (OR 1.89, 95% CI 1.67 to 2.15, compared with stage I/II) and age at diagnosis ≤50 years (OR 1.20, 95% CI 1.01 to 1.42, compared with >50 years). CONCLUSION: The results of this meta-analysis provide data on features increasing the prior probability of finding BRCA1/2 pathogenic variants that may prove helpful in counselling patients and prioritising testing. PROSPERO REGISTRATION NUMBER: CRD42021271815.

Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?

Healthy carriers of BRCA1/2 pathogenic variants (PVs) may benefit from risk-reducing measures of proven efficacy. The main approach to identify these individuals is cascade testing, and strategies to support this complex process are under investigation. In Italy, cascade testing has received little attention; therefore, we analyzed the uptake and characteristics of BRCA1/2 cascade testing in families diagnosed with HBOC between 2017 and 2019 at two Italian genetics centers. All blood relatives aged 18 years or older at September 2022 and who could be involved in the first step of cascade testing (i.e., all the living relatives closest to the proband) were included. In addition to first-degree relatives, individuals who were second-, third- or fourth-degree relatives were included if the closest relative(s) was/were deceased. Overall, 213 families were included (103, Genoa; 110, Bologna). Most probands were women affected by breast and/or ovarian cancer (86.4%, Genoa; 84.5%, Bologna), and the branch segregating the PV was known/suspected in 62% of families (62.1%, Genoa; 60.9%, Bologna). Overall, the uptake of cascade testing was 22.8% (25.8%, Genoa; 19.9%, Bologna; OR = 0.59: 95%CI 0.43-0.82). It was strongly associated with female gender (OR = 3.31, 95%CI 2.38-4.59), age ≤ 70 years (< 30 years OR = 3.48, 95%CI 1.85-6.56; 30-70 years OR = 3.08, 95%CI 2.01-4.71), first-degree relationship with the proband (OR = 16.61, 95%CI 10.50-26.28) and segregation of the PV in both the maternal (OR = 2.54, 95%CI 1.72-3.75) and the paternal branch (OR = 4.62, 95%CI 3.09-6.91). These real-world data may be important to inform the design and implementation of strategies aimed at improving the uptake of HBOC cascade testing in Italy.