Search Results (195)

Pediatric palliative care (PPC) aims to enhance the quality of life of children with life-limiting conditions and their families through individualized, interdisciplinary support. Among this population, children with neurological diseases represent a substantial and growing group, often facing prolonged disease courses, cognitive impairment, and high prognostic uncertainty. Effective communication is central to PPC; however, it remains deeply influenced by cultural, religious, and spiritual frameworks that shape family perceptions of illness, suffering, and decision-making. This narrative review explores communication strategies in PPC, with a specific focus on children with neurological conditions, highlighting conceptual foundations, cross-cultural variations, and emerging best practices. Key findings highlight the importance of culturally humble approaches, family-centered communication models, and structured tools, such as co-designed advance care planning and dignity therapy, to enhance communication. Additionally, the review highlights the presence of ethical and interdisciplinary challenges, particularly in neonatal and neurology settings, where misaligned team messaging and institutional hesitancy may compromise trust and timely referral to palliative care. Future research, policy, and clinical education priorities should advocate for models that are inclusive, ethically grounded, and tailored to the unique trajectories of neurologically ill children. Integrating cultural competence, team alignment, and family voices is essential for delivering equitable and compassionate PPC across diverse care settings. Full article

Background: More than 1500 genes are associated with developmental delay and intellectual disability, with variants in many of these genes contributing to a shared phenotype. The discovery of variants of uncertain significance (VUS) found in these genes during genetic testing can lead to ambiguity and further delay in diagnosis and medical management. Phenotyping, additional genetic testing, and functional studies can all add valuable information to help reclassify these variants. Here we demonstrate the clinical utility of epigenetic signatures in prioritizing variants of uncertain significance in genes associated with developmental delay (DD) and intellectual disability (ID). Methods: Genome sequencing was performed in a male with developmental delay. He was found to have VUSs in both PHF6 and DDB1 genes, linked with Börjeson–Forssman–Lehmann syndrome (BFLS) and White–Kernohan syndrome (WHIKERS), respectively. These two disorders share a similar phenotype but have distinct inheritance patterns and molecular pathogenic mechanisms. DNA methylation profiling (DNAm) of whole blood was performed using the clinically validated EpiSign assay. Results: The proband’s methylation profile demonstrated a strong correlation with the BFLS methylation signature, supporting the PHF6 variant as a likely cause of his neurodevelopmental disorder. Conclusions: Epigenetic testing for disorders with distinct methylation patterns can provide diagnostic utility when a patient presents with variants of uncertain significance in genes associated with developmental delay. Epigenetic signatures can also guide genetic counselling and family planning. Full article

Neurodevelopmental disorders (NDDs) significantly impact children’s health and development. They pose a substantial burden to families and the healthcare system. Challenges in early identification, accurate and timely diagnosis, and effective treatment persist due to overlapping symptoms, lack of appropriate diagnostic biomarkers, significant stigma and discrimination, and systemic barriers. Generative Artificial Intelligence (GenAI) offers promising solutions to these challenges by enhancing screening, diagnosis, personalized treatment, and research. Although GenAI is already in use in some aspects of NDD management, effective and strategic leveraging of evolving AI tools and resources will enhance early identification and screening, reduce diagnostic processing by up to 90%, and improve clinical decision support. Proper use of GenAI will ensure individualized therapy regimens with demonstrated 36% improvement in at least one objective attention measure compared to baseline and 81–84% accuracy relative to clinician-generated plans, customize learning materials, and deliver better treatment monitoring. GenAI will also accelerate NDD-specific research and innovation with significant time savings, as well as provide tailored family support systems. Finally, it will significantly reduce the mortality and morbidity associated with NDDs. This article explores the potential of GenAI in transforming NDD management and calls for policy initiatives to integrate GenAI into NDD management systems. Full article

Background: Methotrexate (MTX) remains the most commonly prescribed drug used to treat rheumatoid arthritis (RA). Polymorphisms in solute carrier organic anion transporter family member 1B3 (SLCO1B3) and SLCO1B1 may play a critical role in MTX pharmacokinetics and patient outcomes. However, research on these polymorphisms in Saudi Arabia remains limited. We evaluated the association of SLCO1B3 (rs4149117, rs7311358) and SLCO1B1 (rs2306283, rs4149056) polymorphisms with MTX efficacy and safety in Saudi patients with RA. Methods: This multicenter, case-control study included patients diagnosed with RA in Jeddah and Taif. Demographic and clinical data were collected and analyzed. Genotyping of SLCO1B3 (rs4149117, rs7311358) and SLCO1B1 (rs2306283, rs4149056) polymorphisms was performed using Sanger sequencing. Statistical analyses, including logistic regression and haplotype analysis, were conducted to evaluate associations between these polymorphisms, MTX efficacy, and toxicity. Results: The study cohort comprised 100 patients with RA, with 46 showing a good response to MTX and 54 showing a poor response. Clinical predictors of MTX response were significantly higher in patients with poor response. Both SLCO1B3 polymorphisms (rs4149117, rs7311358) were significantly associated with anemia. Significant associations were found between SLCO1B1 (rs2306283) and gastrointestinal disturbances and anemia. The GAAT haplotype was significantly more prevalent among good responders, while the TGGT haplotype was significantly associated with poor responders. Conclusions: These results highlight the importance of genetic testing in predicting MTX treatment outcomes and tailoring personalized treatment plans for patients with RA to improve efficacy and minimize adverse effects. Full article

Background/Objectives: Schizophrenia has been associated with increased inflammatory and metabolic disturbances. Perceived family support potentially affects inflammatory and metabolic biomarkers. The aim of this study was to determine the interrelations between family support, C-reactive protein (CRP) and Body Mass Index (BMI) in a sample of outpatients with schizophrenia. Importantly, this study sought to elucidate the effect of perceived family support on inflammatory processes among patients with schizophrenia. Methods: In this cross-sectional correlation study, 206 outpatients with schizophrenia in clinical remission completed a standardized self-report questionnaire that assessed family support (Family Support Scale—FSS). Sociodemographic, clinical and laboratory data were also recorded. Results: Among the participants, 49.5% had detectable CRP values (≥0.11 mg/dL), whereas 14.6% had positive CRP levels (>0.6 mg/dL). There was a significant difference in CRP levels among the different BMI groups (normal weight/overweight vs. obese). For obese patients, the crude odds ratios (ORs) for detectable and positive CRP values were 1.980 (95% confidence interval (CI) [1.056, 3.713]) and 27.818 (95% CI [6.300, 122.838]), respectively. Significant positive correlations were observed among CRP, BMI and illness duration, while scores on the FSS were negatively associated with these variables. The results of binary logistic regression analysis indicated that both BMI and family support were significant factors in determining the likelihood of having positive CRP levels, with each unit increase in the BMI associated with a 17% (95% CI [0.025, 0.337]) increase in the odds, and with each unit increase in family support leading to an 8.6% (95% CI [0.018, 0.15]) decrease. A moderation analysis revealed that the association between family support and the probability of having positive CRP levels depends on the BMI value, but only for obese patients did the protective effect of family support significantly decrease the magnitude of the risk of having positive CRP (b = −0.1972, SE = 0.053, OR = 0.821, p = 0.000, 95% CI [−0.3010, −0.0934]). Conclusions: The effect of perceived family support on inflammatory responses becomes evident in cases where beyond metabolic complications, inflammatory processes have already been established. Increased perceived family support seems to protect against inflammation and, notably, the association between low perceived family support and increased inflammation is even stronger. Establishing the role of family involvement during the treatment of patients with schizophrenia through inflammatory processes is a novelty of this study, emphasizing the need to incorporate family therapy into psychiatric treatment plans. However, primary interventions are considered necessary for patients with schizophrenia in order to maintain their BMI within normal limits and avoid the subsequent nosological sequelae. Full article

Background/Objectives: Family self-care (FSC) is increasingly recognized as a vital aspect of caregiving in pediatric chronic conditions. However, its development in families of children with intellectual disabilities (IDs) remains underexplored. This study aimed to examine how families construct and sustain FSC, and to identify factors that shape its development across four domains: physical, cognitive, psychosocial, and behavioral. Methods: A qualitative study was conducted using an abductive approach, combining inductive thematic analysis with a deductively applied theoretical framework. Semi-structured interviews were carried out with nine families of children with ID in southern Portugal. The children ranged in age from 4 to 15 years, and the parents were aged between 29 and 53 years. The data was analyzed using Bardin’s content analysis, supported by NVivo software, and organized according to the FSC framework. This study followed COREQ guidelines. Results: The families described a range of self-care strategies, including environmental adaptations, experiential learning, emotional regulation, and long-term planning. These practices were shaped by contextual factors such as access to healthcare, relationships with professionals, emotional support networks, and socioeconomic conditions. Four emergent conclusions illustrate how structural and relational dynamics influence FSC in daily caregiving. Conclusions: FSC is a dynamic, multidimensional process shaped by lived experience, family interactions, and systemic support. The findings support inclusive, family-centered care models and inform clinical practice, training, and policy in pediatric IDs. Full article

Objective: This study seeks to analyze the incidence of breastfeeding self-efficacy in postpartum woman who are undergoing prenatal care at the Family Health Strategy Units in the city of Tubarão, Santa Catarina (SC), Southern Brazil, from August to December 2022. Methods: An observational epidemiological study with a cross-sectional design was carried out with puerperal women—either primiparous or multiparous—who were followed in the municipal public network, along with their live-born children delivered at the maternity hospital of Hospital Nossa Senhora da Conceição in Tubarão, SC. Participants agreed to participate in the study. For data collection, an instrument developed by researchers and a validated instrument entitled Breastfeeding Self-Efficacy Scale-Short Form were used to assess the self-efficacy of breastfeeding. Results: The mean score of the Breastfeeding Self-Efficacy Scale (BSES) was 61.75 points (±6.39), indicating high self-efficacy. There was an association between the mean of the general score and/or the domains of the BSES with maternal characteristics. Women with higher education had greater technical mastery (p = 0.010), and those with previous breastfeeding experience and those who breastfed their children during the first hour of life had a higher average in the overall score and in the domains of the scale. In addition, those who planned the pregnancy (p = 0.024) and those who did not receive assistance from the milk bank (p = 0.047) had greater technical domain. Conclusions: In the present study, there was a predominance of high breastfeeding self-efficacy. It was verified that the personal and clinical aspects interfered in the self-efficacy of breastfeeding. Full article

American adults struggle with accurately assessing the quality of their diet, with the majority overrating their diet quality. Thus, the objective of the study was to explore what individuals think about when asked to rate their diet quality. Virtual focus groups were conducted from October 2023 to April 2024, using a semi-structured interview with open-ended questions. Convenience samples of small-scale farmers, school food service directors, health clinic patients, and university students and staff in Mississippi and Arkansas participated (N = 27). Themes and subthemes from NVivo-transcribed discussions were identified and coded inductively. Four subthemes emerged for description of diet: balance, consideration for others, convenience, and location. Four subthemes emerged for quality of diet: availability/access, culture/tradition, health considerations, and making better choices. Three subthemes emerged for healthy food: composition/preparation, nourishing benefits, and taste/flavor. Three subthemes emerged for unhealthy food: addicting/overconsumption, composition/preparation, and undesirable effects. Three subthemes emerged for nutrition knowledge: audience specific, general knowledge, and ambivalence. Three subthemes emerged for food shopping: food types, family influence/preference, and planning. Factors shaping how individuals perceive their diet quality are complex with intertwining components. Understanding the complexity involved in self-perceptions of diet quality will help us better quantify perceptions and link them to measurable outcomes. Full article

Background: It is generally well-known that narration of care is critically important to high-quality nursing care. Narration of care is loosely defined as a nurse’s ability to describe to patients and families the clinical purpose behind nursing practice, what is hoped to be achieved, and the “why” (or clinical rationale) behind nursing activities. Despite the importance of narration of care, there is little practical guidance given to nurses about how to narrate care—what makes for effective or ineffective narration of care. Objective: Our aim was to develop a framework for teaching nurses and patient care assistants (PCAs) on how to effectively narrate care. In this article, we provide a practical framework for teaching nurses and PCAs how to narrate care. We describe the process of developing the framework as part of quality improvement efforts and implementing a course for eight hospitals based on the framework. Methods: Consistent with a Plan-Do-Study Act (PDSA) quality improvement approach, we developed the framework by first conducting a data and literature review, then convening a taskforce, discussing with patients on our existing committees, and finally formulating a framework. We then drafted supplementary cases and course material and implemented a course to teach nurses and PCAs how to narrate care. Results: The narration of care framework (NOC) that we developed and implemented consisted of the following five principles, which can be called RECAP as an acronym: 1. The “R” in RECAP stands for removing uncertainty. 2. The “E” in RECAP stands for explaining the environment. 3. The “C” in RECAP stands for being calm and sincere. 4. The “A” in RECAP stands for assume nothing. 5. The “P” in RECAP stands for personal connection. As for the course developed based on the RECAP principles, there was a total of 276 course offerings conducted by 30 facilitators, and 7341 nurses and PCAs completed the course. The evaluations reflected that 99% of learners believed their learning was improved by the course. Discussion: There are several multifaceted benefits to NOC: nurses’ and PCAs’ capability to narrate care well shows empathy and compassion to patients; it strengthens patient understanding and education that can lead to improved patient outcomes; and it helps allay patients’ uncertainties and anxieties. In essence, narrating care in an effective manner cultivates a strong nurse–patient therapeutic relationship. Yet, in the absence of any practical guidance, nurses and PCAs are left to develop narration skills on their own, learning by trial and error, and, in doing so, perhaps failing to meet patients’ needs and failing to fully derive the many benefits that the NOC is designed to achieve. Our hope is that, if hospital systems adopt our work, nurses and PCAs can comfortably and confidently enter the profession knowing the purpose or narrating care, its many benefits, and how to practically conduct sufficient narration, and what would constitute insufficient narration. Hospitals, in turn, can specify and clearly articulate their expectations for nurses and PCAs narrating with patients—what would make for a strong, compassionate process and what would be inadequate. For more experienced nurses, they can use the RECAP framework to reflect on their own practices and perhaps strengthen or refreshen existing skills. Conclusions: NOC is acknowledged, somewhat implicitly, as being critical to nursing and PCA practice, yet practical instruction and specified principles are lacking. We aimed to fill this gap by developing, implementing, and teaching a practical framework, armed with many tools nurses can use. Full article

Background/Objectives: Weight loss following bariatric surgery can improve fertility. Current guidelines recommend delaying pregnancy for at least 12 months post-surgery for weight stabilization and to support healthy gestational weight gain (GWG). However, evidence supporting this recommendation is limited. This study investigated the impact of preconception weight stability and the surgery-to-conception interval on GWG and examined risk factors for GWG above or below recommendations. Methods: Women aged 18–45 years with singleton pregnancies post-bariatric surgery were recruited before 23 weeks’ gestation and followed until delivery. Participants self-reported their weight for the 6 months preceding conception and again at 36 weeks’ gestation via an online survey. Weight change (as a percentage of pre-pregnancy weight) was analyzed using stepwise linear and multivariate logistic regression. Results: Sixty-nine participants completed the study. The percentage of body weight change in the 6 months before conception ranged from −34% to +21%, with significantly greater preconception weight loss observed in those who conceived within 12 months of surgery (p < 0.001). The pre-pregnancy BMI and preconception weight change together explained 24% of the variation in GWG (p < 0.001), while the surgery-to-conception interval was not a significant predictor (p = 0.502). While 70% (34/49) of participants experienced weight gain outside of recommendations, no significant risk factors could be identified. Conclusions: Weight trajectory prior to conception is a key factor to predict GWG rather than the surgery–conception interval. These findings have important implications for family planning and clinical guidance following bariatric surgery. Full article

Background and Objectives: One of the challenges of modern healthcare systems, in terms of economic and organizational sustainability and the impact on patients’ quality of life, is the progressive increase in chronicity and care complexity. In this scenario, hospital–community integration models represent possible strategies to ensure the continuity of care, reduce readmission rates, and improve clinical outcomes. This study aims to map integrated care models for patients with chronic diseases, with active involvement of the family and community nurse, describing their functions and associated clinical, organizational, and economic outcomes, as well as barriers and facilitators to their implementation. Materials and Methods: The review was conducted using the JBI methodology and the PRISMA-ScR protocol and identified 26 studies with a publication range from 2000 to 2025. Results: The emerging results highlight the use of integrated and personalized organizational models in the post-discharge phases, with a leading role for the family and community nurse in the assessment, planning, and coordination of various steps. Conclusions: The interventions are associated with an increase in patient and caregiver satisfaction, a reduction in outcomes such as the rehospitalization rate, and greater continuity of care. Full article

Inherited platelet disorders (IPDs) are a group of rare conditions affecting platelet number, function, or both. Clinical manifestations vary widely, from asymptomatic cases to patients with severe bleeding, syndromic features, or early-onset blood cancers. Some are diagnosed due to family history. Early and accurate diagnosis—through both clinical and molecular evaluation—is essential for effective patient management and to avoid inappropriate treatments due to misdiagnosis. Genetic confirmation aids in prognosis, follow-up planning, family screening, genetic counseling, and donor selection for stem cell transplantation if required. However, diagnosing IPD is still challenging due to the disorders’ complexity and the limitations of current lab tests. This review outlines the diagnostic process for IPD and provides evidence-based, practical recommendations informed by scientific literature and clinical experience. Full article

Introduction: The clinical syndrome of heart failure (HF) is progressive and disabling for patients who rely on their caregivers for help and support. The caregiving role is inducing major changes in the personal, social, and family life of caregivers and entails a heavy emotional and physical burden, which in turn negatively affects their quality of life (QoL). Purpose: The purpose of this study was to explore the QoL of caregivers of patients with HF as well as the associated caregivers’ and patients’ characteristics. Material and Methods: The sample of the study included 340 caregivers along with their hospitalized patients. Data collection was performed by the method of the interview using the questionnaire “SF-36 Health Survey (SF-36)” to assess caregivers’ QoL. Results: Τhe physical QoL component of caregivers was found to be statistically significantly associated with the type of relationship with their patient (p = 0.001), age (p = 0.001), level of education (p = 0.001), occupation (p = 0.001), information about HF patients (p = 0.001), worry about finances (p = 0.001), and insecurity about the future (p = 0.001). The mental QoL component of caregivers was found to be statistically significantly associated with the type of relationship with their patient (p = 0.001), gender (p = 0.009), age (p = 0.001), level of education (p = 0.001), occupation (p = 0.001), frequency of visits to hospitalized patient (p = 0.001), information about HF (p = 0.029), anxiety about patients’ self-care (p = 0.001), worry about finances (p = 0.001), and insecurity about the future (p = 0.001). In terms of HF patient’s characteristics, the physical QoL component of caregivers was found to be statistically significantly associated with the patients’ age (p = 0.001), patients’ education level (p = 0.001), patients’ occupation (p = 0.006), patients’ family history of cardiac disease (p = 0.006), and patients’ self-reported symptom management before hospital admission (p = 0.022). The mental QoL component of caregivers was found to be statistically significantly associated with the patients’ education level (p = 0.020), the patients’ NYHA stage (p = 0.001), prior hospitalization (p = 0.001), the patients’ family history of cardiac disease (p = 0.012), and the patients’ self-reported symptom management before admission (p = 0.001). Conclusions: In-depth understanding factors affecting QoL in caregivers with HF may enhance plans and actions to attain healthcare goals among societies globally. Full article

Background/Objectives: Ochronosis is an uncommon metabolic condition caused by a deficiency of homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid (HGA) in connective tissues. This deposition of HGA in the joints can result in cartilage degeneration and advanced ochronotic arthritis. Although this condition is usually asymptomatic, it can demonstrate devastating articular destruction characterized by dark pigmentation of the tissues. Methods: A 64-year-old female with a medical history consisting of diabetes mellitus type 2, hypertension, and thoracic aortic aneurysm, with no personal or family history of ochronosis or related symptoms, has been diagnosed with progressive knee osteoarthritis, Kellgren and Lawrence grade III, unresponsive to conservative treatment. Results: The patient underwent staged bilateral, bicompartmental, cemented total knee arthroplasty (TKA), during which several pathological changes were incidentally discovered: black-pigmented, weakened articular cartilage and darkened synovial fluid, as well as brittle metaphyseal bone necessitating increased cement application to ensure prosthetic stability. Postoperative recovery was significant for anemia requiring a blood transfusion. Improved knee function was observed in the first month follow-up visit, and the patient was referred for diagnostic confirmation of her condition. Conclusions: This case underscores the importance of recognizing ochronosis as a potential cause of advanced joint degeneration in patients undergoing arthroplasty. Furthermore, the diagnosis might be of clinical relevance, since this case demonstrated postoperative anemia which required blood transfusion. This, combined with the brittleness of bone, highlights the need for meticulous surgical planning and tailored approaches by the unaware surgeon who might encounter such not-so-pleasant findings. Full article

Background: Early rehabilitation is crucial for predicting post-stroke outcomes. In rural Thailand, previous works identified limited access to prompt rehabilitation services, discontinuity of home visits, and a lack of interdisciplinary management, hindering comprehensive resolution. Objective: This participatory action research-based pilot quasi-experimental study investigated the effects of personalized intermediate care (IMC) programs led by physical therapists on clinical outcomes in post-ischemic stroke older adults living in rural areas. Methods: Participatory stakeholders (two physical therapists, a physician, a nurse, and a nutritionist) convened to coordinate with relevant stakeholders (community leaders, village health volunteers (VHVs), and family caregivers (CGs)). Thirty-four acute post-stroke patients were included in the study. The interventions consisted of three action research cycles (planning, action, observation, and reflection) of home-based neurorehabilitation and comprehensive treatments by a healthcare professional network for six months and another six-month follow-up. The primary outcome was the Barthel index for activities of daily living (BI-ADL). The modified Rankin scale (mRS) was a secondary outcome for assessing disability levels. Results: Results showed that the BI-ADL gradually and significantly increased from a baseline median (IQR) of 55 (15) to 100 (20) after 6 months (p < 0.05). This improvement of the BI-ADL was maintained after 12 months (100 (15)). Furthermore, the mRS at 6 months post-discharge reduced considerably from the first month of rehabilitation (p < 0.05). Conclusions: In conclusion, the early and continuous personalized IMC rehabilitation program effectively enhanced ADL and reduced disability levels and should be disseminated to the community. Full article