Search Results (469)

Background/Objectives: Rare diseases have a substantial impact not only on affected individuals but also on their families, particularly parents who assume primary caregiving roles. Despite increasing attention to rare conditions, parents’ experiences remain fragmented across the literature. This integrative review aimed to synthesise existing evidence on the experiences and multidimensional impact of caring for a child with a rare disease on parents. Methods: An integrative review was conducted following Whittemore and Knafl’s methodology and reported according to PRISMA 2020 guidelines. A systematic search was performed across MEDLINE, CINAHL, PsycINFO, PsycARTICLES, and Scopus from 1 November 2025 to 31 January 2026. Twenty-two studies (qualitative, quantitative, mixed-methods, and reviews) were included. Data were analysed using thematic synthesis. Results: Three interrelated themes were identified: (1) the diagnostic journey, characterised by prolonged uncertainty, fragmented care, and the pivotal role of communication; (2) multidimensional caregiving burden, encompassing emotional, social, economic, and physical impacts, with notable gender differences; and (3) adaptive trajectories, involving dynamic coping processes, parental upskilling, and meaning-making. Across studies, caregiving burden emerged as a cumulative and system-influenced phenomenon, while adaptation was found to coexist with ongoing uncertainty rather than representing a linear resolution. Conclusions: Caring for a child with a rare disease profoundly affects parents across multiple domains. The findings highlight the need for integrated, family-centred care models, improved diagnostic communication, and sustained psychosocial support. Implications for nursing practice: Nurses play a key role in recognising caregiver burden, supporting adaptive processes, and promoting effective communication throughout the diagnostic and care trajectory. Full article

Background/Objectives: This study explored parents’ perspectives regarding digital media use in children and adolescents with neurodevelopmental disorders (NDs) and examined how these views vary according to family and clinical characteristics. Methods: Data were collected from an Italian survey involving 352 families. Items assessed the perceived effects of digital devices on child development and parenting, awareness of screen time guidelines, and use of time- and content-limiting tools. Quantitative analyses were complemented by a reflexive thematic analysis of open-ended responses describing how digital media influenced parenting. Results: Parents expressed divergent attitudes towards digital media, with broadly similar proportions reporting positive, neutral, and negative views regarding both child development and parenting. More favourable views were associated with greater perceived benefits for children and were more frequent among parents of children with more severe functional disabilities. About half had discussed screen use with health professionals, and most were aware of existing guidelines. Thematic analysis identified six themes related to digital parenting: educational means (digital devices as tools for communication, learning, and socialisation), entertainment (screens as a source of leisure or behavioural management), reward (digital media used as reinforcement), screen time as a “necessity” (technology as an integral and sometimes rehabilitative part of daily life), negative effects on the child (concerns about detachment, reduced social interaction, and mood dysregulation), and parental behaviour and attitudes (reflecting the emotional burden of regulation and broader beliefs about digital media). Conclusions: Parents of children with NDs navigate digital media use through a complex balance of perceived risks and benefits. Findings highlight the need for family-centred guidance and assistive technology approaches that promote digital inclusion while addressing parental stress and regulatory challenges. Full article

Background/Objectives: Survival rates after pediatric liver transplantation have improved substantially over recent decades, yet the psychiatric consequences for recipients remain a concern that warrants closer attention. We sought to map the psychiatric symptom burden across multiple domains in this population and to determine which symptom clusters carry the greatest impact on health-related quality of life (HRQOL). Materials and Methods: Fifty liver transplant recipients between the ages of 8 and 18 were enrolled at a single center. Children and their parents completed four psychiatric measures—the CBCL, CDI, SCARED, and CRIES-13—alongside the parent-proxy PedsQL to capture HRQOL across physical, emotional, social, and school functioning domains. Correlations between instruments were calculated, and linear regression was used to determine which psychiatric variables independently predicted PedsQL Total scores. Results: Across all psychiatric measures, higher symptom scores were associated with lower HRQOL, with school functioning recording the lowest absolute PedsQL domain score, while emotional functioning demonstrated the strongest and most consistent inverse correlations with all psychiatric symptom measures across instruments. CBCL Total (r = −0.607), SCARED Total (r = −0.557), and CRIES-13 Total (r = −0.548) scores all correlated meaningfully with overall HRQOL. When entered into multivariable analysis, anxiety symptoms measured by the SCARED (β = −0.295, p = 0.032) and post-traumatic stress symptoms measured by the CRIES-13 (β = −0.400, p = 0.004) stood out as the two independent predictors of worse PedsQL Total scores. Conclusions: Even in medically stable recipients, anxiety and post-traumatic stress symptoms were independently associated with lower daily functioning scores and overall quality of life. These findings suggest that routine psychosocial screening and trauma-informed approaches may warrant integration into post-transplant care protocols, and that prospective, adequately powered studies are needed to confirm and extend these associations. Full article

Treatment-refractory rectal cancer liver metastasis represents a major therapeutic challenge, particularly in the absence of actionable genomic biomarkers. Functional precision oncology approaches integrating genomic profiling with patient-derived organoid (PDO) drug testing may provide biologically informed therapeutic prioritization. A 50-year-old female patient with KRAS/TP53-mutant, microsatellite-stable (MSS) rectal adenocarcinoma refractory to FOLFIRINOX was enrolled. A liver metastasis from a treatment-refractory rectal cancer patient was processed to establish three-dimensional patient-derived organoids. Histopathological concordance was assessed using H&E and p53 immunohistochemistry. Comprehensive genomic profiling was performed using a 637-gene targeted next-generation sequencing panel, enabling detection of single-nucleotide variants, indels, copy number variations, microsatellite instability, and tumor mutational burden. Functional drug sensitivity profiling was conducted in parallel 2D and 3D platforms using a customized 17-agent panel, followed by exploratory combinatorial validation. The organoids demonstrated high phenotypic and genomic concordance with the parental tumor, preserving key driver alterations (KRAS^A146T, TP53^R175H, APC frameshifts, CCNE1 amplification), microsatellite stability, and low tumor mutational burden (TMB: 6.37 mut/Mb). Functional screening identified selective sensitivity to bevacizumab (IC₅₀: 0.130 μM), doxorubicin (IC₅₀: 0.570 μM), carboplatin (IC₅₀: 0.950 μM), and topotecan (IC₅₀: 1.600 μM) in the 3D organoid model, with consistent cross-platform validation. An exploratory combination assay further supported enhanced viability suppression under bevacizumab-based regimens. Critically, at the time of manuscript preparation, the patient demonstrated radiological disease stabilization under bevacizumab plus trastuzumab deruxtecan, consistent with the organoid-derived response profile. These findings highlight the capacity of integrated genomic and organoid-based profiling to uncover therapeutic vulnerabilities beyond standard biomarker assessment. This proof-of-concept case report study demonstrates the feasibility and translational relevance of an established organoid-based functional precision oncology platform for therapeutic prioritization in metastatic rectal cancer. Full article

Background/Objectives: Advances in paediatric care have increased the survival of children with severe neurological impairment, often accompanied by complex disability, multimorbidity, and a substantial treatment burden. Determining whether interventions provide meaningful benefit to the child is ethically challenging, particularly when decision-making is shared between parents and clinicians, while the child has limited capacity to participate directly in decision-making. This paper examines the guiding question “what’s in it for the kid?” as a means of strengthening child-centred ethical deliberation alongside established frameworks. Methods: We undertook a conceptual bioethical analysis informed by clinical experience in an inner city tertiary public hospital. The analysis focuses on children with severe neurological impairment and medical complexity. The paper critically examines how the guiding question aligns with and extends key ethical constructs, including shared decision-making, the Zone of Parental Discretion, the Best Interests Standard, and care ethics. Clinical scenarios are used illustratively to demonstrate application in practice. Results: Existing ethical frameworks form an important foundational structure for complex decision-making. The question “what’s in it for the kid” translates ethical principles into a practical moral prompt that centres the child as the subject of decision-making. It facilitates clearer consideration of risks, benefits meaningful to the child and lived experience and helps to distinguish the child’s interests from those of parents and clinicians. Its simplicity enhances accessibility and supports consistent use in complex, high-stakes decisions. Conclusions: “What’s in it for the kid?” is a pragmatic and accessible ethical prompt that complements established frameworks by translating them into clinically usable practice. It promotes explicit, child-focused deliberation and supports a more transparent and child-centred evaluation of benefit and burden, particularly in contexts of uncertainty and medical complexity. Full article

Background: Parents of children undergoing liver transplantation face substantial caregiving demands that may adversely affect their mental health across multiple domains. Systematic evaluation of psychosocial outcomes in this population remains limited, particularly in settings that include immigrant families. Method: This was a single-center, cross-sectional study including the parents of 50 children after liver transplantation. Major sociodemographic variables included parental age, sex, education, chronic disease, and immigration status. We also recorded children’s demographics, transplant-related data, follow-up findings, and mental health status. Instruments for psychiatric assessment included the Generalized Anxiety Disorder 7-item scale (GAD-7; anxiety), Patient Health Questionnaire-9 (PHQ-9; depression), Perceived Stress Scale-10 (PSS-10; stress), and Pittsburgh Sleep Quality Index (PSQI; sleep quality). Results: We enrolled 50 parents of 50 pediatric liver transplant recipients (43 Turkish citizens, 7 Syrian immigrants; 28 fathers, 22 mothers; mean age: 40.10 ± 6.65). Time since transplantation showed weak negative correlation with PHQ-9 and GAD-7. Stress (PSS) levels had weak to strong positive correlation with PSQI, PHQ-9, and GAD-7. Sleep quality (PSQI) was positively correlated with PHQ-9 and GAD-7. Depressive findings (PHQ-9) were strongly and positively correlated with GAD-7. In Firth-penalized multivariable models, high PHQ-9 scores were independently associated with shorter time since transplantation (p = 0.001) and high PSS (p = 0.003). High GAD-7 scores were independently associated with shorter time since transplantation (p = 0.025) and high PSS (p = 0.001). Conclusions: The parents of pediatric liver transplant recipients experience high levels of stress, sleep issues, depression, and anxiety, which demonstrate multiple correlations. Full article

Background/Objectives: Advanced renal cell carcinoma (aRCC) remains incurable, with no established optimal sequence of targeted therapies due to interpatient heterogeneity and acquired resistance. We developed a luciferase-enabled patient-derived orthotopic xenograft (PDOX) avatar platform to evaluate sequential targeted therapies in individualized aRCC models that recapitulate tumor architecture, proliferation, angiogenesis, metastasis, and PD-L1 expression. Methods: Tumor specimens from two renal cell carcinoma (RCC) patients were expanded subcutaneously in NOD/SCID mice, transduced with luciferase/red fluorescent protein (Luc/RFP), and orthotopically implanted into mouse kidneys (KiCa-Pt58: sarcomatoid RCC, pT3aN1M1, Fuhrman grade 4; KiCa-Pt118: clear cell RCC with sarcomatoid component, pT3aNxM0, Fuhrman grade 4, respectively). Tumor growth and metastasis were monitored weekly by bioluminescence imaging (BLI). Mice were randomized into vehicle control or four sequential treatment groups (Everolimus→Sunitinib [E→S], Sunitinib→Everolimus [S→E], Pazopanib→Sunitinib [P→S], Pazopanib→Everolimus [P→E]). Drugs were administered orally three times weekly until resistance (>200% BLI increase), with one switch. At necropsy, tumor burden, ex vivo BLI metastasis, weights, H&E histology, and immunohistochemistry (Ki67, CD44, CD31, PD-L1) were assessed. Results: Two independent experiments were performed. In dosing optimization, PDOX tumors recapitulated parental histology and proliferative indices, mirroring patient trajectories. KiCa-Pt58 (metastatic sarcomatoid RCC; deceased 1-month post-nephrectomy) showed aggressive features: rapid engraftment at low doses, early growth (week 2), and lung metastases in 78% of mice (sacrifice day 34), reflecting a fulminant course. KiCa-Pt118 (non-metastatic; patient recurrence-free >8 years post nephrectomy) exhibited indolent behavior: delayed engraftment requiring higher doses plus lymph node stromal (HK) support, slower growth (week 4), no metastases, and later sacrifice (day 78), consistent with remission. In sequential therapy evaluation, for KiCa-Pt58, P→E yielded greatest reductions in tumor weight (p < 0.01), lung metastases (p < 0.01), Ki67+ proliferation, CD31+ angiogenesis, and PD-L1 expression versus control; E→S and S→E were also effective. For KiCa-Pt118, S→E and P→E reduced tumor burden (p < 0.01) and Ki67⁺ proliferation; S→E lowered CD31 and PD-L1. Conclusions: This RCC PDOX platform faithfully preserves patient-specific biology—including metastatic propensity, engraftment efficiency, growth kinetics, and stromal dependency—while enabling real-time evaluation of sequential targeted therapies. Given the limited number of models tested, these findings provide proof-of-concept for individualized treatment exploration in advanced RCC and support future investigation of rational combinations with immune checkpoint blockade in humanized or immunocompetent systems. Full article

Aim: Asthma is a chronic condition with high prevalence in pediatric populations and may negatively influence oral health. The primary aim of this study was to evaluate the association between asthma and oral health-related quality of life (OHRQoL) in Portuguese children aged 6 to 8 years. Secondary aims included comparing caries experience, salivary parameters, and other clinical oral health indicators between asthmatic and non-asthmatic peers. Materials and Methods: A cross-sectional study was conducted with 89 child–parent pairs using a convenience sampling approach. Children with asthma were recruited from a hospital immunoallergology service, and healthy controls were recruited from a primary school. Data collection included parent-administered questionnaires on sociodemographic and behavioral factors, the Portuguese version of the SOHO-5 (child self-report and parent proxy forms), and standardized intraoral examinations assessing caries (WHO criteria, 5th edition), malocclusion, gingival bleeding, dental erosion, mucosal lesions, and molar–incisor hypomineralization. Stimulated salivary flow was measured. Bivariate statistical analyses and multivariable regression models were performed using SPSS (v.29), with a significance level set at p < 0.05. Results: Asthmatic children had significantly higher caries prevalence in both primary (52.6% vs. 27.5%, p = 0.027) and permanent dentition (32.4% vs. 0%, p < 0.001), as well as higher mean dmft scores (2.68 vs. 1.14, p = 0.026), reduced stimulated salivary flow (78.9% vs. 41.2% with low flow, p < 0.001), and worse child-reported SOHO-5 scores (mean 2.42 vs. 1.25, p = 0.004). After multivariable adjustment, asthma remained a significant independent predictor of low salivary flow (OR = 4.017, 95% CI: 1.443–11.178, p = 0.008), while the association with caries was attenuated and no longer significant (OR = 1.345, p = 0.590). Pain experience in the past year was the strongest predictor of OHRQoL across all multivariable models (SOHO-5 child: B = 1.583, p = 0.006; SOHO-5 total: B = 4.970, p < 0.001), indicating that children with pain history reported substantially worse OHRQoL. After adjustment, asthma did not reach statistical significance for either child-reported (B = 0.732, p = 0.090) or total OHRQoL scores (B = 0.693, p = 0.293). These findings should be interpreted cautiously given the limited number of covariates included in the models, constrained by the available sample size. Conclusions: Within the limitations of this cross-sectional study, including a small and non-probabilistic sample, asthmatic children presented a higher caries burden and a markedly higher prevalence of low stimulated salivary flow compared with non-asthmatic peers. Asthma remained a significant independent predictor of low salivary flow after multivariable adjustment, while the association with caries was attenuated, suggesting partial confounding by dietary habits. These findings highlight the importance of integrating oral health surveillance into the routine care of asthmatic children, with particular attention paid to salivary function and caries prevention. Full article

Background: Advances in medical genetics and prenatal diagnosis have improved the detection of fetal abnormalities during pregnancy. The findings may lead some couples to consider termination of pregnancy (TOP). This study aimed to explore parental perspectives on prenatal diagnosis and termination of pregnancy among families in which both parents were β-thalassemia carriers and had at least one previously affected child. Methods: A qualitative study was conducted using semi-structured interviews with 30 participants (15 fathers and 15 mothers) recruited from Bahawal Victoria Hospital, Bahawalpur, Pakistan, between November 2024 and February 2025. Eligible couples were registered for chorionic villus sampling (CVS)-based prenatal diagnosis; both parents had confirmed β-thalassemia carrier status, and each family had at least one previously affected child with β-thalassemia major or intermedia. Interview data were analyzed using thematic analysis. Results: Religious beliefs, financial burden, prior experience with affected children, and partner support emerged as major influences on reproductive decision-making. Many parents viewed prenatal diagnosis as important for preparation and informed decision-making. Mothers more often described emotional conflict, stress, and reliance on support, whereas some fathers expressed greater acceptance of termination in the context of severe disease burden. Conclusions: Religious beliefs, prior disease experience, family dynamics, and socioeconomic pressures were important and interrelated influences on decisions about prenatal diagnosis and termination within this study population. Our findings underscore the importance of culturally sensitive, non-directive genetic counseling in low-resource settings. The study was limited by its small sample, single-center design, the use of joint spousal interviews, and the possibility that pre-interview counseling influenced participants’ responses. Full article

Newborn mass screening improves outcomes for inborn errors of metabolism (IEM); nonetheless, home-based dietary therapy imposes a substantial parental burden. In this study, we explored differences in parents’ health coping behaviors, assessed using the Coping Health Inventory for Parents (CHIP), based on the presence of dietary therapy, child age group, and diagnostic category. A 21-item, CHIP-based questionnaire was distributed via the JaSMIn registry to parents of children with IEM up to school age. Overall, 201 valid responses (56.1% response rate) were analyzed regarding the implementation and perceived usefulness of coping behaviors, stratified by child age, enrollment, diagnosis, and dietary therapy. Parents in the dietary-therapy group reported more coping behaviors than did those in the non-dietary-therapy group. Notably, parents of children aged 1–3 years (not yet in preschool) and those of children with organic acid metabolism disorders rated “daily home practice of treatments” as a highly useful coping behavior. Health-related coping behaviors among parents of children with IEM vary substantially according to child age and disease characteristics. Therefore, family support strategies should be tailored to specific developmental stages and treatment requirements. Full article

Background: Parents of children with cerebral palsy (CP) experience several challenges in providing care, which can impact the child’s quality of life. CP is one of the most common neurological conditions that demand a great deal of time and effort from caregivers. Purpose: To explore the psychological and social effects experienced by Saudi families while rearing children with CP. Methods: This research utilizes qualitative research methods. The purposive sampling method was used to select 13 caregivers of children with CP from the Children with Disability Association in Riyadh, Saudi Arabia. Personal interviews were conducted with a group of parents, then these interviews were analyzed to derive the experiences of the participants. Results: The findings highlighted the difficulties that these families go through from the moment the diagnosis was made, as well as other care burdens, including costs, isolation, and continuous anxiety and worries about the future of the children. Conclusions: This study identifies the need for organized psychological and social support, which has a significant impact on enhancing adaptability and the lives of the children. Full article

Retinopathy of Prematurity (ROP) affects preterm infants worldwide, involving abnormal development of retinal blood vessels associated with supplemental oxygen use in neonatal care. Although there have been strides in identifying at-risk infants, implementing early screening, updating disease criteria through the International Classification of Retinopathy of Prematurity (ICROP), and developing new therapies, ROP remains a leading cause of preventable blindness. As preterm birth survival rates rise, the incidence of ROP continues to increase and is projected to rise even in countries with abundant resources and well-established care programs. Improving ROP care requires global standardization of screening, diagnosis, and management to prevent missed diagnoses and minimize outcome variability. Intravitreal anti-vascular endothelial growth factor (VEGF) injections are changing the landscape of ROP management, but longitudinal research is needed to determine their long-term safety in preterm infants. Effective ROP management relies on teamwork across disciplines and open communication with parents. Given that parents are lifelong caregivers of a child who may be affected by ROP-related vision impairment, including them in the care team and encouraging psychosocial support is vital. Socioeconomic disparities and limited access to ROP-trained ophthalmologists exacerbate disease burden, underscoring the need for innovative solutions to improve access to care. This perspective emphasizes the importance of globally standardizing ROP prevention and care, noting that efforts are still incomplete, equitable access has not been realized, and the long-term role of anti-VEGF agents in ROP treatment remains unclear. Full article

Tendon injuries are common and debilitating musculoskeletal conditions that impose pain and debilitation to patients, significant challenges to medical professionals, and financial burdens to the healthcare system. Due to limited natural healing capacity, tendons typically undergo scar-mediated repair that compromises biomechanical integrity and increases the risk of reinjury. Despite a variety of therapeutic strategies, functional tendon healing remains a major clinical challenge. Mesenchymal stem cells (MSCs) represent an attractive strategy to improve tendon healing, largely due to their immunomodulatory and regenerative properties. Increasing evidence suggests that the therapeutic potential of MSCs is primarily attributed to their paracrine activity via the release of the secretome, a set of bioactive molecules that are known to mimic the immunomodulatory and regenerative properties of their parental cells. More recently, acellular approaches using MSC secretome derivatives, such as conditioned media and extracellular vesicles, have been largely explored for tendon healing. This review of the literature explores the therapeutic potential of MSC secretome derivatives for tendon healing, highlighting their advantages over cell-based therapies, proposed mechanisms of action, manufacturing and scalability considerations, and current state of research. Full article

In Latin America, the double burden of malnutrition is the region’s single most important public health concern for the incoming decade. Latin America’s burden of disease has distinct features in comparison to high-income countries: nearly 20 percent of NCDs are diagnosed in people under 60 years of age in Latin America, whereas only about 13 percent of people under 60 years of age in North America and Europe are diagnosed with these diseases. We aimed to better understand decision-making processes, preferences, and norms around food choices to provide input for future programming and policy suggestions at national and regional levels. We included key informant interviews and focus group discussions with parents and adolescents from urban and rural communities in three regions in Colombia and in Mexico. Results showed that food choices considered to be affordable, acceptable, accessible, and aspirational are driven by environmental and social factors that influence individual cognitive decisions. Across the study groups, cognitive biases influenced food decision-making in relation to eating out, natural, homemade, and “moderation”. At the sociological level, conversations, and social influences at home and in communities were strong indicators of dietary practices, health beliefs, and body size attitudes. Full article

Introduction: Food allergies and intolerances represent a growing pediatric health concern. While stress-related outcomes have received increasing attention, fatigue symptoms in children with food hypersensitivity remain insufficiently characterized. The aim of the study was to evaluate perceived stress and fatigue in children with food hypersensitivity. Material and Methods: We conducted an observational cross-sectional study including 339 children aged 1–18 years with specialist-confirmed food allergy, food intolerance, or mixed pathology. Data were collected through structured parent-reported interviews incorporating the Perceived Stress Questionnaire (PSQ) and the Fatigue Assessment Scale (FAS). Results: Children with food allergy had significantly higher perceived stress and fatigue scores compared to those with food intolerance (p < 0.05), with the highest levels observed in the mixed pathology group. Both perceived stress and fatigue scores increased with age, with adolescents showing the highest values. A moderate positive correlation was identified between stress and fatigue (r = 0.49, p < 0.0001). In multivariable analyses, higher stress and fatigue scores were significantly associated with age and diagnostic category, including mixed pathology, after adjustment for sex and anthropometric indicators. Higher scores were also associated with the presence of multiple clinical symptoms, such as sleep disturbances and concentration difficulties. Conclusions: Food hypersensitivity in children is associated with a significant psychological burden characterized by elevated perceived stress and fatigue, particularly in adolescents and in those with more complex diagnostic profiles. These findings highlight the importance of multidisciplinary management strategies integrating accurate diagnosis, nutritional counseling, and psychosocial support in order to address the broader impact of pediatric food hypersensitivity. Full article