Search Results (5,852)

Background: Cardiac amyloidosis (CA) is an increasingly recognized cause of heart failure with preserved ejection fraction, resulting from myocardial deposition of misfolded amyloid fibrils derived predominantly from transthyretin (ATTR wild-type [ATTRwt] or variant [ATTRv]) or immunoglobulin light chains (AL). Despite advances in noninvasive imaging and disease-modifying therapies, delayed diagnosis remains common, and clinically actionable molecular biomarkers for early detection, phenotypic discrimination, and therapeutic monitoring are limited. MicroRNAs (miRNAs), small noncoding regulators of post-transcriptional gene expression, have emerged as key modulators of cardiovascular remodeling and systemic amyloid biology. Methods: We performed a comprehensive review of experimental, translational, and clinical studies to evaluate the role of miRNAs in transthyretin and light-chain cardiac amyloidosis, incorporating data from myocardial tissue analyses, circulating miRNA profiling, and mechanistic studies in cellular and animal models. Results: Dysregulated miRNA networks contribute to amyloid-induced cardiac injury by modulating mitochondrial energetics, oxidative stress, inflammation, fibrosis, proteostasis, and neurocardiac signaling. Specific miRNAs, including members of the miR-21, miR-29, and miR-30 families, as well as miR-150-5p and miR-339, have been associated with amyloid burden, adverse myocardial remodeling, plasma cell biology, and disease severity. Distinct circulating and tissue miRNA signatures differentiate transthyretin from light-chain cardiac amyloidosis and correlate with functional status, heart failure biomarkers, and clinical outcomes. Conclusions: MiRNAs represent promising diagnostic and prognostic biomarkers in cardiac amyloidosis and offer mechanistic insights into disease pathogenesis. Integration of miRNA profiling with multimodality imaging and emerging RNA-based therapeutics may enable earlier diagnosis and support precision management of amyloid-related heart failure. Full article

Background: Outcomes with enzalutamide in metastatic castration-resistant prostate cancer (mCRPC) are influenced by tumor burden, disease kinetics, and host factors. We evaluated the relative prognostic impact of metastatic pattern, laboratory markers, and prostate-specific antigen (PSA) dynamics in a real-world cohort. Methods: We retrospectively analyzed 72 patients with mCRPC treated with enzalutamide. Progression-Free Survival (PFS) and Overall Survival (OS) were estimated using the Kaplan–Meier method. Multivariate Cox proportional hazards models were utilized to identify independent predictors of survival, incorporating clinical variables (visceral metastases, bone tumor burden), kinetic parameters (Time to Castration Resistance [TTCR], Time to PSA Nadir [TTN]), and host factors (Charlson Comorbidity Index [CCI], Eastern Cooperative Oncology Group Performance Status (ECOG PS), Systemic Immune-Inflammation Index [SII], HALP score). Results: Visceral metastasis was a dominant predictor of poor outcomes, increasing the risk of death by 4.0-fold (HR: 4.05; 95% CI: 1.84–8.89; p < 0.001). A high skeletal tumor burden (≥5 bone lesions) was identified as a critical threshold, associated with a 5.5-fold increase in mortality risk (HR: 5.53; p < 0.001). Delays in initiating enzalutamide significantly compromised survival, with each 1-month delay increasing the risk of death by 7.3% (HR: 1.07; p = 0.003). While early PSA decline (≥50% at 3 months) did not independently predict OS, a prolonged TTN (>12 months) was associated with superior survival. Notably, host-related factors, including age, CCI, and ECOG PS, were not found to be significantly associated with survival outcomes in this specific dataset. Conclusions: Our preliminary findings suggest that survival in real-world mCRPC patients treated with enzalutamide may be influenced predominantly by intrinsic tumor biology—specifically anatomical extent and resistance kinetics—rather than host frailty or comorbidity burden. However, given the retrospective and single-center nature of this study, these findings should be considered hypothesis-generating and require validation in larger, multi-center cohorts. Host-related variables (including age and CCI) were evaluated but were not retained as independent predictors in the final multivariable model. Early initiation of therapy and monitoring of kinetic markers like TTN and TTCR offer superior prognostic stratification compared to static baseline characteristics. Full article

Background/Objectives: Renal cell carcinoma (RCC) care has been reshaped by immune checkpoint inhibitors (ICIs), now used across adjuvant and metastatic settings as PD-1/PD-L1 blockade alone, combined with anti-CTLA-4 agents, or in combination with vascular endothelial growth factor (VEGF)-targeting tyrosine kinase inhibitors (TKIs). As survival improves and systemic therapy courses extend, survivorship priorities—including fertility preservation, reproductive endocrine health, contraception, and pregnancy counselling—become increasingly relevant, even though RCC-specific oncofertility evidence remains sparse. This review examines the biological rationale and clinical considerations underpinning reproductive counselling for women of reproductive age exposed to ICIs (alone or with TKIs) in RCC. Methods: A narrative review was conducted in accordance with the SANRA framework, integrating targeted PubMed/MEDLINE searches up to 20 February 2026 and consultation of regulatory product labels to synthesize mechanistic, clinical, and safety data relevant to fertility, endocrine function, contraception, pregnancy, and breastfeeding in RCC. Results: We delineate the contemporary RCC treatment landscape to identify feasible timepoints for fertility preservation discussions and propose a pragmatic, implementation-oriented counselling framework that distinguishes evidence-secure recommendations (pregnancy avoidance during therapy, endocrine monitoring, agent-specific washout) from extrapolative domains (long-term ovarian reserve effects and post-ICI periconception safety beyond label intervals). Conclusions: By integrating a ‘multi-hit’ biological rationale, treatment context, and available human data, this review highlights RCC-specific research priorities while supporting transparent, evidence-aligned, and multidisciplinary counselling for both fertility preservation and pregnancy safety in the ICI era. Full article

Background: Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) are the first-line treatment for patients with non-small cell lung cancer (NSCLC) harboring EGFR mutations. Although EGFR-TKIs can cause various adverse events (AEs), their profiles have not been fully elucidated in Thai patients. This study aimed to determine the incidence, characteristics, severity, and duration of the first AEs and to evaluate their association with tumor response in patients with NSCLC receiving EGFR-TKIs. Method: This retrospective cohort study was conducted at a super-tertiary care hospital in Thailand. Patients with NSCLC who received EGFR-TKIs between August 2021 and July 2024 were included. Descriptive statistics were used to summarize safety profiles and tumor response. The association between AEs and objective response was assessed using logistic regression. Results: A total of 187 patients were included in this study. Overall, 177 AEs were observed in patients receiving erlotinib, osimertinib, or gefitinib. The most common cutaneous AEs were rash (30.7%), xerosis (24.1%), and acneiform rash (19.3%), while diarrhea (20.3%) was the most frequent gastrointestinal toxicity. Most AEs were grade 1–2 and occurred within 1 month after treatment initiation. In multivariable logistic regression analysis, pruritus (OR 8.26, 95% CI: 1.00–67.75, p = 0.049) and treatment line (OR 0.27, 95% CI: 0.10–0.68, p = 0.006) were independently associated with objective response. Conclusion: Most of the AEs occurred early during EGFR-TKI therapy, with cutaneous reactions being the most common and generally mild to moderate. Pruritus and treatment line were independently associated with objective response, suggesting that pruritus may serve as a potential clinical indicator of treatment response and highlighting the importance of monitoring of the EGFR-TKI-related AEs during therapy. Full article

Resistance surveillance programmes are essential for choosing the most appropriate eradication therapy for the stomach pathogen Helicobacter pylori. This study aimed to determine H. pylori antimicrobial resistance rates in Ireland. H. pylori was cultured from patients attending four gastroenterology clinics from 2018 to 2023. Antimicrobial susceptibility testing (AST) was performed using Etests for metronidazole, clarithromycin, levofloxacin, amoxicillin, tetracycline and rifampicin and resistance classified using EUCAST guidelines. Resistance rates were compared between H. pylori treatment-naïve and previously treated patients (primary and secondary resistance, respectively). Samples from 138 culture-positive patients (mean age 49.4 ± 15.7 years, 47.1% female) were analysed. A total of 28.7% of isolates from treatment-naïve patients were susceptible to all antimicrobials tested. Primary resistance rates to metronidazole, clarithromycin, levofloxacin, amoxicillin, tetracycline and rifampicin were 44.3%, 36.5%, 18.3%, 14.6%, 9.6% and 9.6%, respectively. Primary dual resistance to clarithromycin and metronidazole was 22.6% and primary multidrug resistance was 13.0%. Secondary resistance rates were significantly higher than primary resistance rates for clarithromycin, metronidazole, dual resistance to clarithromycin and either amoxicillin, metronidazole or levofloxacin, and multidrug resistance. Female sex and older age were associated with increased risk of resistance. H. pylori resistance rates were high in our cohort. Clarithromycin-based triple therapy should no longer be used in Ireland in the absence of pre-treatment AST. Resistance to amoxicillin, tetracycline and rifampicin should be monitored closely. Full article

Background: Systemic venous congestion is a key driver of organ dysfunction in heart failure (HF), yet accurate non-invasive quantification remains challenging. Recognizing residual congestion is critical, since it predicts HF readmissions and mortality. Traditional assessments (physical exam, jugular venous pressure, inferior vena cava [IVC] size) are imprecise. The Venous Excess Ultrasound Score (VExUS) is a semi-quantitative point-of-care ultrasound (POCUS) protocol that integrates IVC diameter with Doppler flow patterns in the hepatic, portal and intrarenal veins to grade systemic venous overload. Methods: We conducted a narrative review of literature (2018–2025) regarding the usefulness of VExUS in HF, covering congestion pathophysiology, clinical evidence (hemodynamic correlations, organ dysfunction, outcomes), potential applications, integration with lung ultrasound, echocardiography and biomarkers, limitations of its assessment and future directions. Results and Discussions: In HF, elevated right atrial pressure causes venous congestion. VExUS integrates IVC diameter with Doppler waveforms of hepatic, portal, and intrarenal veins to grade congestion. Emerging evidence shows higher VExUS grades correlate with elevated filling pressures, renal dysfunction, and worse outcomes. Its use may guide diuretic therapy, aid discharge planning, and monitor outpatient congestion, especially when combined with lung ultrasound and biomarkers. However, VExUS has limitations: it is technical and operator-dependent. Importantly, large trials validating VExUS-guided management are lacking. Future directions include AI-driven automation of Doppler analysis and integration with multimodal congestion monitoring to provide a comprehensive congestion assessment. Conclusions: VExUS is a promising noninvasive tool for quantifying congestion in HF. Higher grades are associated with organ dysfunction and poor prognosis. Incorporating this technique into HF care may improve congestion-guided therapy, but large-scale validation is required before routine use. Full article

Background: Congenital cytomegalovirus (cCMV) infection is one of the most common congenital infections worldwide and the leading cause of non-genetic sensorineural hearing loss. Although less frequent in preterm infants, cCMV may significantly worsen outcomes in an already vulnerable population. The risks and benefits of antiviral therapy in extremely preterm neonates remain unclear, as this group is largely excluded from clinical trials. Case presentation: We report a case of symptomatic cCMV infection in an extremely preterm infant born at 26 weeks and 2 days of gestation to a mother with primary CMV infection during the second trimester. High CMV viral loads were detected in urine and plasma shortly after birth. On day of life (DOL) 3, respiratory deterioration required intubation, with radiological findings consistent with CMV pneumonia and positive bronchoaspirate samples. Intravenous ganciclovir was initiated on DOL 16 and administered for six weeks, followed by oral valganciclovir for six months. Treatment was associated with a favourable clinical and virological response and no significant hematological toxicity. Ophthalmologic and audiological evaluations were normal. Neurodevelopmental assessment with Bayley III at one year of corrected age demonstrated age-appropriate performance across all domains. Discussion: A structured literature review identified 10 case reports, including 13 extremely preterm infants treated for cCMV infection. Antiviral dosing regimens were heterogeneous. The most frequent manifestations prompting treatment were laboratory abnormalities (92.3%), particularly thrombocytopenia and leukopenia or neutropenia. Neuroimaging abnormalities and intrauterine growth restriction or small for gestational age were each reported in 53.8% of cases. Long-term neurodevelopmental outcomes were normal in 38.5% of infants. Conclusions: Antiviral therapy for cCMV infection with ganciclovir and valgancyclovir in premature neonates is feasible and safe with careful monitoring, and appears to provide benefits. Nevertheless, well-designed studies that include pharmacokinetics and pharmacodynamics, virologic monitoring, and long term outcomes of development, vision and hearing are urgently needed. Full article

Background: Liquid biopsy using circulating tumor DNA (ctDNA) is rapidly reshaping gastrointestinal (GI) oncology. The highest-impact applications are molecular residual disease (mRD) detection after curative-intent therapy and early recognition of progression or resistance during systemic treatment. Methods: We performed a structured, clinically oriented narrative synthesis by using explicit search, eligibility, evidence prioritization, and clinical interpretation rules, integrating landmark prospective cohorts, randomized ctDNA-guided strategy trials where available, meta-analyses, key methodological research (e.g., pre-analytics, assay design, and clonal hematopoiesis (CH)/clonal hematopoiesis of indeterminate potential (CHIP)), and selected trial registries. Results: In resected colorectal cancer (CRC), postoperative ctDNA positivity is among the strongest known biomarkers of recurrence risk; large prospective studies demonstrate clear separation of disease-free survival (DFS)/overall survival (OS) between mRD+ and mRD− patients. In stage II colon cancer, randomized data (DYNAMIC) show that a ctDNA-guided strategy reduces adjuvant chemotherapy exposure without compromising long-term outcomes. In metastatic CRC, ctDNA supports early response monitoring and resistance tracking; ctDNA-selected anti-EGFR rechallenge provides a model of biomarker-driven actionability (CHRONOS). In gastroesophageal cancers, longitudinal ctDNA dynamics correlate with relapse risk and treatment efficacy, and in esophageal squamous cell carcinoma, ctDNA after neoadjuvant chemoradiotherapy informs residual disease risk and adjuvant stratification. In pancreatic ductal adenocarcinoma and hepatobiliary malignancies, sensitivity is constrained by low shedding and background cell-free DNA (cfDNA), yet ctDNA positivity remains clinically meaningful, and emerging data in resected extrahepatic cholangiocarcinoma (STAMP-linked analyses) show that ctDNA dynamics during adjuvant therapy predict recurrence. Conclusions: ctDNA is a clinically validated biomarker for mRD in CRC, whereas in other GI cancers, it remains a promising but methodologically heterogeneous tool whose clinical utility is tumor- and context-dependent. The next phase requires interventional trials demonstrating outcome improvement, harmonized sampling and reporting standards, and rigorous control of confounders (notably CH/CHIP). Full article

Primary central nervous system (CNS) tumors remain a major challenge in neuro-oncology due to their cellular heterogeneity, infiltrative growth, and the protective blood–brain barrier (BBB), which limits the effectiveness of systemic therapies. Despite aggressive multimodal treatments, patient survival remains poor, highlighting the urgent need for new therapeutic strategies. Ultrasound-based therapies, including focused ultrasound (FUS) and sonodynamic therapy (SDT), have emerged as promising approaches. FUS can transiently open the BBB and induce localized mechanical and thermal effects, enhancing drug delivery, while SDT activates tumor-specific sensitizers to generate reactive oxygen species that trigger cancer cell death. Preclinical and early clinical studies suggest that combining these modalities with chemotherapy, immunotherapy, or radiotherapy may improve treatment outcomes. Emerging tools such as AI-guided monitoring, theranostic platforms, and ultrasound-responsive nanoparticles could further enable personalized interventions. However, challenges remain, including protocol variability, tumor heterogeneity, and limited long-term safety data. Careful optimization and clinical validation are needed before these strategies can be widely adopted in the management of CNS tumors. Full article

Background: Chronic kidney disease (CKD) and end-stage renal disease (ESRD) represent a growing global health burden, affecting nearly one in ten adults worldwide. CKD is associated with high morbidity, premature mortality, reduced quality of life and enormous healthcare costs, and is primarily driven by dialysis and kidney transplantation. The silent and progressive nature of CKD means that most patients are diagnosed late, when irreversible damage has already occurred and costly kidney replacement therapies (KRT) become necessary. Dialysis services are resource-intensive, requiring significant infrastructure, specialized staff, and consumables, which makes them especially challenging to sustain in low- and middle-income countries. Traditional models of nephrology, care center-based dialysis and fragmented follow-up are increasingly inadequate in meeting the demands of a rising CKD population. These challenges highlight the urgent need for innovative approaches that enhance efficiency, improve patient outcomes, and expand access. Objective: This review aims to analyze the current landscape of information and communication technology (ICT) applications in nephrology and to evaluate how digital innovations are reconfiguring kidney therapy. Specifically, it seeks to identify the major ICT tools that are currently in use, assess their clinical and operational impact, and discuss their role in creating more sustainable, patient-centered kidney care models. This study reviews and analyzes ICT tools that are reconfiguring nephrology, including remote monitoring, AI, wearables, patient engagement apps and data dashboards. Methods: Narrative and scoping review of recent innovations in nephrology, including remote patient monitoring (RPM), telehealth, artificial intelligence (AI) analytics, wearable sensors, and clinical decision support platforms. Results: ICT tools such as Sharesource, Versia, telenephrology platforms, medical assistant for Chronic Care Service (MACCS), AI-based predictive analytics, wearable devices and patient engagement apps have improved patient outcomes, adherence, and early detection of complications. Key metrics include technique survival, hospitalization rate, patient-reported outcomes, workflow efficiency, and prediction accuracy. The relevant literature describing the potential of digital health technologies, including ICT platforms, artificial intelligence tools, and remote monitoring systems, to transform nephrology care was retrieved and screened for inclusion in this narrative review. Conclusions: ICT has shifted nephrology from reactive to proactive care, enhancing accessibility, patient empowerment and clinical efficiency. Future directions include precision nephrology, fully wearable kidneys, AI integration and large language models for education and triage. Challenges include digital divide, regulatory heterogeneity, cost and the need for long-term evidence. Full article

Cognitive impairments are a core feature of psychotic disorders and are strongly associated with long-term functional disability. Although Cognitive Remediation Therapy (CRT) is an evidence-based intervention for improving cognition in psychosis, its feasibility and preliminary effects in acute inpatient settings—particularly using web-based platforms—remain underexplored. This single-arm, pre–post pilot study evaluated the feasibility of delivering a web-based CRT program and examined preliminary cognitive outcomes in a secure psychiatric inpatient facility. Thirteen inpatients with psychotic and non-psychotic diagnoses completed a 15-week intervention comprising twice-weekly sessions that included adaptive computerized CRT exercises (Happy Neuron Pro) and therapist-led bridging discussions focused on metacognitive reflection and functional application. Cognitive performance was assessed pre- and post-intervention using the MATRICS Consensus Cognitive Battery. All participants completed the study with no withdrawals or adverse events, attending a mean of 27.77 of 30 sessions (93.0%). Pre–post improvements were observed in processing speed, verbal learning, and overall composite cognition, with large within-sample effect sizes that remained robust in sensitivity analyses. Exploratory analyses suggested potential associations between sex, history of self-harm, and cognitive change, though these findings require cautious interpretation. Findings support the feasibility of inpatient web-based CRT and provide preliminary cognitive effect-size estimates. Given the single-arm design and absence of systematic medication monitoring, results should be interpreted as exploratory signals warranting controlled validation. Overall, findings support the feasibility of inpatient web-based CRT and provide preliminary signals of cognitive benefit, warranting evaluation in larger controlled studies. Full article

Background/Objectives: Opioid-induced constipation (OIC) is a frequent adverse effect of opioid therapy. In contrast to other opioid-related side effects, OIC usually does not improve over time and significantly impairs the quality of life of affected patients. Despite its high prevalence, OIC remains underdiagnosed and undertreated in clinical practice, which has been demonstrated in several European countries. Healthcare data indicates that approximately 2.3 million people in Germany received potentially OIC-inducing opioids in 2023, the majority being patients with chronic non-cancer pain. Methods: An interdisciplinary board of experts in gastroenterology, pain medicine, neurology, oncology, and palliative care developed consensus-based recommendations to improve the diagnosis and management of OIC. Fifteen statements were drafted according to current national German and international guidelines and literature and subsequently discussed. Out of the fifteen statements, twelve statements remained, which achieved consensus with at least 90% agreement. Results: The consensus statements address key aspects of OIC management, including pathophysiology, patient education, diagnosis, prevention, treatment and structured follow-up. Following the statements, a practical treatment algorithm was developed to facilitate clinical implementation. Use of validated tools such as the Bowel Function Index (BFI) for diagnosis and monitoring, early initiation of laxative therapy and timely escalation to mechanism-oriented therapy with peripherally acting μ-opioid receptor antagonists (PAMORAs) in cases of inadequate response have been recommended by the panel. Accordingly, treatment should follow an approach with the following steps: (1) Laxative, (2) switch to PAMORA, (3) rotation of PAMORA, and (4) combination of PAMORA with laxative. In Europe, the PAMORAs methylnaltrexone, naloxegol and naldemedine are approved for the treatment of OIC. Conclusions: This consensus paper provides both evidence-based and practice-oriented recommendations for the systematic management of OIC. By promoting patient education, early recognition, structured evaluation and stepwise treatment escalation, the presented statements and algorithm aim to improve patient outcomes and quality of life under opioid therapy including better adherence to opioid therapy. Full article

Objectives: To evaluate the effectiveness of different optimization parameters on radiotherapy plan quality for seventeen head and neck cancer patients. Methods: Volumetric Modulated Arc Therapy with Simultaneous Integrated Boost (VMAT-SIB) plans, involving up to three tumors, were generated. For each participant, a reference plan (Plan_Ref) was created using dual-arc with 180 control points, 20° gantry-angle increment and 1 cm minimum segment width. Modified plans were developed with dose constraints and optimization settings constant by changing to single-arc, 150 and 200 control points, 0.5 cm minimum segment width, and 30° and 40° gantry-angle increments. These plans were referred to as Plan_Arc1, Plan_CP150, Plan_CP200, Plan_SW0.5, Plan_Inc30, and Plan_Inc40, respectively. D_95% of planning target volumes (PTVs), homogeneity index (HI), monitor units (MUs), maximum dose (D_max) of spinal cord, mandible, and brainstem were recorded. Statistical and Bland–Altman analysis was performed comparing the modified plans to Plan_Ref. Results: Average D_95% values for PTV1, PTV2, and PTV3 ranged from 93.13 to 98.82%. Plan_SW0.5 provided superior target coverage and homogeneity with higher MUs than Plan_Ref. Plan_Arc1 significantly reduced PTV coverage and dose homogeneity, while increasing MUs compared with Plan_Ref (p < 0.05). The average D_max as derived from all planning approaches was up to 43.86 Gy, 65.86 Gy, and 48.85 Gy for spinal cord, mandible and brainstem, respectively. For spinal cord, Plan_Ref led to significantly lower doses compared to Plan_Arc1 and Plan_Inc30, while the brainstem recorded statistically higher D_max doses than Plan_Arc1. Significantly higher D_max was observed for the mandible using Plan_SW0.5 (p < 0.05). However, for D_max, the comparison plans showed good agreement with Plan_Ref based on Bland–Altman analysis. Conclusions: The VMAT plan quality is strongly affected by the minimum segment width whereas no differences were observed with the modification of the number of control points. Full article

Background/Objectives: Approximately 1 in 10 community-dwelling older adults are affected by or at risk of malnutrition, and this prevalence increases to nearly 1 in 3 among those receiving home care or recently hospitalized, contributing to higher rates of frailty, falls, hospitalization, functional decline, and mortality. Many of these individuals depend on informal or family caregivers for nutritional care, including assistance with grocery shopping meal preparation, feeding, and monitoring dietary intake. Thus, informal caregivers play an increasingly central role in supporting dietary intake and maintaining nutritional status. This narrative review aims at assessing the relationship between informal caregiver involvement and malnutrition in community-dwelling older adults who are dependent for nutritional-related needs, summarizing evidence on caregiver’s role and caregiver-associated determinants of malnutrition, as well as on interventions that incorporate caregivers into nutrition care. We discuss factors associated with malnutrition in later life, with particular emphasis on caregiver knowledge, burden, interventions and outcomes. In addition, caregiver-inclusive models of care and tools, including nutrition education and guidelines/recommendations, medical nutrition therapy, and multidisciplinary care models will be addressed. Methods: A structured review of the literature was conducted (date of last search December 2025), searching multiple databases for pertinent articles. Following identification of eligible articles for inclusion, a narrative synthesis of evidence was completed. Results and Conclusions: Despite the high degree of heterogeneity in methodology, observational studies demonstrate that several caregiver attributes influence the nutritional status of care recipients, including caregiver’s own nutritional status, burden, knowledge and literacy, psychosocial, environmental and economic factors. Intervention studies show that caregiver-focused, -inclusive and -delivered interventions have a positive impact on several outcomes, including improved older care recipient dietary intakes, nutritional status and quality of life without impacting on caregiver burden. Thus, strengthening caregiver support and integrating caregivers into nutrition screening and intervention frameworks may represent a critical opportunity to reduce malnutrition risk and improve health outcomes among older adults. Still, significant gaps remain in caregiver-focused intervention research, particularly in diverse cultural and social contexts. Full article

Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by an impaired ventilatory response to hypercapnia and hypoxia, particularly during sleep, and frequently associated with autonomic dysfunction. It is caused by pathogenic variants in the PHOX2B gene. Although CCHS is typically diagnosed in the neonatal period, milder forms may present later in infancy or childhood, often triggered by respiratory infections. Case presentation: We report the case of 16-month-old male diagnosed with CCHS following an episode of hypoxemic–hypercapnic respiratory failure during respiratory syncytial virus (RSV) infection. His medical history included neonatal respiratory distress requiring oxygen therapy and recurrent wheezing. At 15 months, he developed acute respiratory distress with severe hypercapnia (PaCO₂ 70 mmHg), requiring admission to the Pediatric Intensive Care Unit and invasive mechanical ventilation. Persistent sleep-related hypercapnia and hypoxemia prompted evaluation for central hypoventilation, confirmed by means of transcutaneous capnography and nocturnal pulse oximetry. Genetic testing revealed a de novo nonsense mutation in exon 1 of PHOX2B (p.Tyr14Ter). Brain magnetic resonance imaging showed diffuse white matter changes suggestive of gliosis. Further investigations identified early-onset systemic hypertension, requiring antihypertensive therapy. The patient was discharged on nocturnal non-invasive ventilation and enrolled in a neurodevelopmental rehabilitation program. Conclusions: This case highlights the phenotypic variability of CCHS and the importance of considering this diagnosis in children presenting with unexplained hypercapnia and sleep-related hypoxemia. It underscores the need for comprehensive autonomic evaluation, including blood pressure monitoring. The p.Tyr14Ter variant may allow partial protein function, potentially accounting for the relatively mild phenotype. Full article