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Abstract Background Gene editing therapies in development for correcting out-of-frame DMD mutations in Duchenne muscular dystrophy aim to replicate benign spontaneous deletions. Deletion of 45–55 DMD exons (del45–55) was described in asymptomatic subjects, but recently serious skeletal and cardiac complications have been reported. Uncovering why a single mutation like del45–55 is able to induce diverse phenotypes and grades of severity may impact the strategies of emerging therapies. Cellular models are essential for this purpose, but their availability is compromised by scarce muscle biopsies. Methods We introduced, as a proof-of-concept, using CRISPR-Cas9 edition, a del45–55 mimicking the intronic breakpoints harboured by a subset of patients of this form of dystrophinopathy (designing specific gRNAs), into a Duchenne patient’s cell line. The edited cell line was characterized evaluating the dystrophin expression and the myogenic status. Results Dystrophin expression was restored, and the myogenic defects were ameliorated in the edited myoblasts harbouring a specific del45–55. Besides confirming the potential of CRISPR-Cas9 to create tailored mutations (despite the low cleavage efficiency of our gRNAs) as a useful approach to generate in vitro models, we also generated an immortalized myoblast line derived from a patient with a specific del45–55. Conclusions Overall, we provide helpful resources to deepen into unknown factors responsible for DMD-pathophysiology.

Sleep quality significantly impacts individuals’ overall health, especially in older adults. Older adults often face comorbid conditions, polypharmacy (the intake of five or more medications per day), and medication non-adherence, which are common among those with sleep disorders. The purpose of this systematic review is to examine the relationship between sleep quality and medication adherence in older adults and to describe the measuring instruments used. A systematic review was performed following the PRISMA guidelines. The PubMed, Scopus, Cochrane Library, and CINAHL databases were screened from January 2024 to March 2024. Nine articles were included in the final synthesis based on the inclusion and exclusion criteria. The review found that poor sleep quality is significantly associated with reduced medication adherence in older adults. The key sleep determinants linked to medication non-adherence include sleep disorders, sleep efficiency, sleep duration, and daytime dysfunctions. Inappropriate medication prescriptions have been associated with reduced sleep efficiency. The tools for assessing sleep quality and medication adherence are predominantly subjective and varied. To address these challenges, a comprehensive geriatric assessment should include investigations into sleep disorders and comorbidity factors. Additionally, nursing educational interventions could be pivotal in improving medication adherence among older adults.

Objective: Patients with lung cancer patients report a worse quality of life than other cancer patients. Telenursing interventions should represent effective solutions in their clinical pathways. The study aims to provide an overview of telenursing interventions in lung cancer patients on chemotherapy. Materials and Methods: A systematic review following the PRISMA Statement was performed. The following databases were consulted: PubMed, EMBASE, Cochrane Library, and CINAHL. The quality of the studies includ- ed was assessed through the GRADE method. Primary quantitative, qualitative, and mixed-method studies on telenursing intervention in lung cancer patients ≥ 18 years old, on chemotherapy, and in home-setting care were included (International Prospective Registry of Systematic Reviews Protocol ID: CRD42022332779). Results: From the 801 studies retrieved, three were finally included in the review and resumed in a narrative synthesis. Conclusions: Despite the increase in telenursing interventions during the pandemic, limited evidence was found in lung cancer patients on chemotherapy. The little evidence identified does not allow for drawing conclusive con- clusions regarding effectiveness, usability, and satisfaction with the care provided, either in addition to or as an alternative to usual care. Telenursing interventions and the perceived satisfaction of patients with lung cancer are potentially consistent and should improve access and quality of care, healthcare costs and resources.

Objective: Disrupted sleep-in cancer patients is due to several factors. Pre-existing sleep disorders, mental status in cancer, or side effects of cancer treatment are all potential predictors of sleep disturbances in this vulnerable population. This review aims to evaluate and synthesise non-pharmacologic interventions for improving sleep quality and the associated benefits in cancer patients. Materials and Methods: A literature review was performed according to PRISMA guidelines. PubMed, Google Scholar, MEDLINE, CINAHL, and Embase databases were interrogated, selected the article with cancer, neoplasm, oncology, sleep-wake disorders, sleep disturbance, sleep problem, strategies, treatment, and intervention such as keywords. No time and geographic restrictions but paediatrics, children, and interventions unrelated to sleep improvement in cancer were excluded. Results: Overall, twenty-nine articles were included in the review after selection. The included studies analysed different types of cancer, like breast, lung, and prostate cancer and acute leukaemia. Most of the data gathered from the relevant research suggest that nonpharmacologic interventions significantly improved cancer patients' sleep quality. Conclusions: Cancer survival rates are increasing; researchers and healthcare professionals should aim not just at survival but also to allow cancer patients just comfortably to live, considering the best quality of life possible. Nurses have a crucial role in the care of this patient population. Nursing implies an intimate relationship with patients and educating the patient to improve their mental and physical condition through non-pharmacological approaches, which should be considered a specific competence.

Sleep quality significantly impacts individuals' overall health, especially in older adults. Older adults often face comorbid conditions, polypharmacy (the intake of five or more medications per day), and medication non-adherence, which are common among those with sleep disorders. The purpose of this systematic review is to examine the relationship between sleep quality and medication adherence in older adults and to describe the measuring instruments used. A systematic review was performed following the PRISMA guidelines. The PubMed, Scopus, Cochrane Library, and CINAHL databases were screened from January 2024 to March 2024. Nine articles were included in the final synthesis based on the inclusion and exclusion criteria. The review found that poor sleep quality is significantly associated with reduced medication adherence in older adults. The key sleep determinants linked to medication non-adherence include sleep disorders, sleep efficiency, sleep duration, and daytime dysfunctions. Inappropriate medication prescriptions have been associated with reduced sleep efficiency. The tools for assessing sleep quality and medication adherence are predominantly subjective and varied. To address these challenges, a comprehensive geriatric assessment should include investigations into sleep disorders and comorbidity factors. Additionally, nursing educational interventions could be pivotal in improving medication adherence among older adults. [ABSTRACT FROM AUTHOR]

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Summary: Patients aged 50 or above diagnosed with myeloid neoplasms (MNs) are typically not candidates for germline testing. However, approximately 8% carry pathogenic germline variants. Allogeneic haematopoietic stem cell transplantation (alloHSCT) remains an option for those aged over 50; neglecting germline testing could mask the risk for relative donor cell‐derived MN. We propose a germline‐augmented somatic panel (GASP), combining MN predisposition genes with a myeloid somatic panel for timely germline variant identification when initial testing is not indicated. Out of our 133 whole‐exome‐sequenced MN cases aged over 50 years, 9% had pathogenic/likely variants. GASP detected 92%, compared to 50% with somatic‐only panel. Our study highlights the relevance of germline screening in MN, particularly for alloHSCT candidates without established germline‐testing recommendations. [ABSTRACT FROM AUTHOR]

Abstract Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation sequencing (NGS) has revolutionized the molecular diagnosis of these diseases, the pathogenicity of some mutations casts doubts. After the screening of 208 patients with a panel of 117 genes, we obtained 383 variants that were analysed in silico with bioinformatic prediction programs. Based on the results of these tools, we selected 15 variants for their functional assessment. Therefore, we carried out minigene assays to unveil whether they could affect the splicing of the corresponding gene. As a whole, seven variants were found to induce aberrant splicing in the following genes: BEST1, CACNA2D4, PRCD, RIMS1, FSCN2, MERTK and MAK. This study shows the efficacy of a workflow, based on the association of the Minimum Allele Frequency, family co-segregation, in silico predictions and in vitro assays to determine the effect of potential splice site variants identified by DNA-based NGS. These findings improve the molecular diagnosis of inherited retinal dystrophies and will allow some patients to benefit from the upcoming gene-based therapeutic strategies.

OBJECTIVE: The use of digital technologies could improve patients’ quality of care, satisfaction, and health-related outcomes in cancer patients. This paper aims to explore the use of digital technologies in nursing management of cancer patients in Italy. PATIENTS AND METHODS: A systematic literature review was performed. PubMed, Excerpta Medica dataBASE (Embase), Cumulative Index to Nursing and Allied Health Literature (CINAHL), and Cochrane Library databases were consulted from September 1, 2021, to January 31, 2022. Key terms for Telenursing/Telemedicine and cancer in Italy were used. The quality of each study was assessed through the Grading of Recommendations, Assessment, Development, and Evaluations method. RESULTS: 131 articles were found and 5 were included: two randomized-clinical-trial protocols aimed to explore the impact of medication management apps on patients' quality of life; one validation trial suggested good reliability in the therapeutic adherence of patients on chemotherapy but limited sensitivity in detecting related adverse events; two observational studies described the validation of telephone triage prehospitalization programs performed by nurses during the pandemic. CONCLUSIONS: The use of digital technologies in nursing management of cancer patients is infrequent, however, increased during the pandemic. Further studies are needed to evaluate the impact and effectiveness of the use of digital technologies in nursing management in cancer patients.

Abstract Background General physiotherapy is a common means of rehabilitation after surgery for proximal humeral fracture (PHF). Better-targeted exercises seem worthy of investigation and the aim of this study was to assess the efficacy of a rehabilitation program including task-oriented exercises in improving disability, pain, and quality of life in patients after a PHF. Methods By means of a randomized controlled trial with one-year follow-up, 70 working patients (mean age of 49 ± 11 years; 41 females), who were selected for open reduction and internal fixation with plates caused by PHF, were randomized to be included in an experimental (n = 35) or control group (n = 35). There was a permuted-block randomization plan, and a list of program codes was previously created; subsequently, an automatic assignment system was used to conceal the allocation. The first group underwent a supervised rehabilitation program of task-oriented exercises based on patients’ specific job activities, and occupational therapy. The second group underwent general physiotherapy, including supervised mobility, strengthening and stretching exercises. Both groups individually followed programs of 60-min session three times per week for 12 weeks in the outpatient setting. The Disability Arm Shoulder Hand questionnaire (DASH; scores range from 0 to 100; primary outcome), a Pain intensity Numerical Rating Scale (scores range 0 to 10; secondary outcomes), and the Short-Form Health Survey (scores range from 0 to 100; secondary outcomes) assessed the interventions. Participants were evaluated before surgery, before and after rehabilitation (primary endpoint), and at the one-year follow-up (secondary endpoint). A linear mixed model analysis for repeated measures was carried out for each outcome measure (p

Background: Literature on the prevention of medication errors is growing, highlighting that knowledge, attitude and behavior with regard to medication errors are strategic to planning of educational activities and evaluating their impact on professional practice. In this context, the present pilot study aims to translate and validate nursing professionals’ knowledge, attitudes and behavior (KAB theory) concerning medication administration errors in ICU from English into Persian. Furthermore, two main objectives of the project were: performing a pilot study among Iranian nurses using the translated questionnaire and carrying out a cultural measurement of the KAB theory concerning medication administration errors in an ICU questionnaire across two groups of Italian and Iranian populations. Methods: A cross-cultural adaptation of an instrument, according to the Checklist for reporting of survey studies (CROSS), was performed. The convenience sample was made up of 529 Iranian and Italian registered nurses working in ICU. An exploratory factor analysis was performed and reliability was assessed. A multi-group confirmatory factor analysis was conducted to test the measurement invariance. Ethical approval was obtained. Results: There was an excellent internal consistency for the 19-item scale. Results regarding factorial invariance showed that the nursing population from Italy and Iran used the same cognitive framework to conceptualize the prevention of medication errors. Conclusions: Findings from this preliminary translation and cross-cultural validation confirm that the questionnaire is a reliable and valid instrument within Persian healthcare settings. Moreover, these findings suggest that Italian and Persian nurses used an identical cognitive framework or mental model when thinking about medication errors prevention. The paper not only provides, for the first time, a validated instrument to evaluate the KAB theory in Iran, but it should promote other researchers in extending this kind of research, supporting those countries where attention to medical error is still increasing.

AimsTo evaluate the effectiveness of a multidisciplinary group psychoeducation treatment (GPT) in patients with Binge Eating Disorder (BED).MethodsWe designed an open-label efficacy study that included a population of 45 patients diagnosed with BED. A measure of eating attitudes and associated psychological constructs was obtained through the use of the self-report instruments Eating Disorder Inventory (EDI-3), Binge Eating Scale (BES) and Body Uneasiness Test (BUT). The Symptom Checklist-90 (SCL-90) was also administered to assess general psychopathology. All participants participated in 12 weekly group psychoeducational treatment meetings, 8 of which were conducted by mental health professionals, and a second module of 4 meetings, oriented on health and nutrition education topics, conducted by a dietician.ResultsAt the end of treatment, patients showed significant improvements in body mass index (BMI) and binge eating. Paired t-tests showed significant differences at p-value < 0.05 in all eating disorder risk scales and for most of the general psychological scales related to eating disorders. In addition, patients experienced an improvement in their perception of overall body image, a decrease in concerns about physical appearance and less body image avoidance. Finally, results showed that psychoeducation treatment was associated with significant improvements in interpersonal sensitivity.ConclusionsThe results of this study may indicate that significant short-term improvements can be achieved through a psychoeducation group for BED patients. Although limited by the lack of a control condition, this study adds to a growing body of evidence with promising results, setting the stage for further case-control studies of BED treatment.

OBJECTIVE: The objective of this review is to investigate strategies to manage and treat taste and smell alterations in oncologic patients to minimize the effect these have on their quality of life and their nutritional model as well. MATERIALS AND METHODS: A scoping review was conducted, and the following international databases were consulted: PubMed, CINAHL, Cochrane, and Scopus. The scoping review process was conducted using Arksey & O’Malley’s framework. RESULTS: A total of 18 studies were considered relevant and were divided into three macro areas: pharmacological interventions, aimed to manage and treat taste and smell alterations; nonpharmacological interventions and self-care strategies to adapt oneself as to not perceive the information provided by these senses and to accept the current situation as no reparatory interventions are available. CONCLUSIONS: Both dysgeusia and dysosmia require complex evaluations, the etiopathogenesis mechanisms are not yet completely known and there are no universal evaluation instruments available. A precocious evaluation of these symptoms needs to include the physical, psychological, and social spheres of patients. Healthcare staff plays a key role as they link the primary care and home care of these symptoms. Taste and smell disturbances are underestimated and are not the focus of enough studies, and it is, therefore, desirable that the future holds an enlargement in the number of studies regarding aetiology, objective and subjective evaluation, and application of interventions to prevent, treat and manage these symptoms.

Cognitive impairment and dementia can negatively impact the nutritional capacities of older people. Malnutrition is common in hospitalized frail elderly people with cognitive impairment and negatively affects prognosis. Malnutrition worsens the quality of life and increases morbidity and mortality. This scoping review aimed to identify factors affecting the risk of malnutrition and preventive strategies in hospitalized patients with cognitive impairment, focusing on nursing interventions. The authors researched population, context, and concept in international databases of nursing interest. Full texts that met the inclusion criteria were selected and reviewed. The extracted data were subject to thematic analysis. A five-stage approach, already reported in the scientific literature, was utilized in the following scoping review. Of 638 articles yielded, 9 were included. Two focus areas were identified as follows: (1) prevalence and risk factors of malnutrition in older patients with cognitive decline; (2) nursing strategies used to enhance clinical outcomes. Nursing health interventions aim to recognize and reduce malnutrition risk, positively impacting this phenomenon. A multidisciplinary team is essential to meet the nutritional needs of these patients.

Background: The intensive care unit (ICU) brings together high‐risk patients and interventions in a complex environment. Based on this consideration, medication administration error is the most common type of error that occurs in ICUs. Literature confirms that human factors (lack of knowledge, poor practices and negative attitudes) of nurses are the main contributors to the occurrence of medication administration errors in ICUs. Aim: To examine and compare the knowledge, attitudes and behaviour scores on medication administration error according to nurses' sociodemographic and professional variables. Study Design: This is a secondary analysis of data from a cross‐sectional international study based on a survey. Descriptive statistics were computed for all items of the questionnaire. Non‐parametric tests (Kruskal Wallis and Mann Whitney U tests) were used to carry out the comparison between groups. Results: The international sample consisted of 1383 nurses in 12 different countries. Statistically significant changes were seen in knowledge, attitudes and behaviour scores among several subgroups of the international population. Eastern nurses were more likely to show adequate knowledge about medication administration error prevention than Western nurses; concurrently, Western nurses were significantly more likely to show positive attitudes than Eastern nurses. No statistically significant differences in the behaviour scale were found in this study. Conclusions: The findings show a difference between knowledge and attitudes in relation to cultural background. Relevance to Clinical Practice: Decision makers in ICUs should consider cultural background when planning and implementing prevention strategies for medication administration errors. Further research is needed to investigate the effectiveness of educational systems on the decrease of the incidence of medication administration errors in ICU. [ABSTRACT FROM AUTHOR]