Search Results (115)

Chronic pancreatitis (CP) precipitates complex malnutrition through synergistic mechanisms: exocrine pancreatic insufficiency–driven maldigestion, duodenal or pancreatobiliary strictures limiting nutrient flow, cholestasis impairing micelle formation, alcohol-related anorexia, pain-induced hypophagia, proteolytic catabolism from type 3c diabetes, and a chronic inflammatory milieu that accelerates sarcopenia and bone demineralisation. Consequent calorie–protein depletion, micronutrient and fat-soluble vitamin deficits, and metabolic derangements markedly amplify morbidity. Pancreatic enzyme replacement therapy (PERT) with targeted micronutrient repletion is foundational; high-protein regimens co-administered with PERT curb muscle loss, and medium-chain triglycerides (MCTs) can augment caloric delivery by bypassing lipase dependence, although their benefit over personalised dietetic counselling is marginal. Optimal dietary fat thresholds and timing of escalation from oral to enteral or parenteral feeding remain unresolved. Comprehensive care also demands alcohol abstinence, effective analgesia and stringent glycaemic control. Serial monitoring—biochemical indices, densitometry, dual-energy X-ray absorptiometry and imaging-based body-composition metrics—permits early detection of high-risk patients and precision tailoring of interventions. Intensified multidisciplinary programmes already improve prognostic endpoints and are unveiling biomarkers of nutritional resilience. A structured, evidence-based strategy integrating PERT, macronutrient engineering, micronutrient repletion and metabolic surveillance is essential to mitigate nutrition-related morbidity, enhance long-term outcomes and optimise quality of life in CP. Full article

Background/Objectives: Dilated cardiomyopathy (DCM), defined as dilation and contractile dysfunction of the left or both cardiac ventricles, remains the most common category of primary myocardial disease worldwide. It is the most prevalent cause of chronic heart failure and the most common indication for cardiac transplantation in young subjects. Accumulating evidence increasingly highlights the substantial genetic defects underlying DCM. Nevertheless, the genetic ingredients accountable for DCM in a major percentage of patients remain indefinite. Methods: A multigenerational pedigree suffering from DCM and a total of 276 healthy volunteers employed as controls were recruited from the Chinese Han-ethnicity population. A whole-exome sequencing (WES) assay followed by a Sanger sequencing analysis of the genomic DNAs from the available family members was implemented. Functional characterization of the identified genetic variant was completed by dual-luciferase analysis. Results: A new heterozygous variation in the ETS1 (erythroblast transformation-specific 1) gene, NM_005238.4:c.447T>G;p.(Tyr149*), was identified by WES and validated by Sanger sequencing analysis to co-segregate with DCM in the whole DCM family. This nonsense ETS1 variant was not found in 276 control subjects. Functional examination elucidated that Tyr149*-mutant ETS1 lost the ability to transactivate its downstream target genes CLDN5 (claudin 5) and ALK1 (activin receptor-like kinase 1), two genes crucial for cardiovascular embryonic development and postnatal structural remodeling. Conclusions: The present investigation reveals ETS1 as a new gene predisposed to human DCM and indicates ETS1 haploinsufficiency as an alternative molecular pathogenesis underlying DCM, providing a potential molecular target for genetic counseling and early diagnosis as well as personalized prophylaxis of DCM. Full article

Background: Tobacco use is disproportionately high in rural areas, contributing to elevated cancer mortality, yet it often goes untreated due to limited access to care, high poverty and uninsured rates, and co-occurring substance use disorders (SUDs). This study explored the utility of using rapid qualitative analysis (RQA) to guide the adaptation of a tobacco-free workplace program (TFWP) in Texas healthcare centers serving adults with SUDs in medically underserved areas. Methods: From September–December 2023 and May–July 2024, we conducted 11 pre-implementation, virtual semi-structured group interviews focused on adapting the TFWP to local contexts (N = 69); 7 with providers (n = 34) and managers (n = 12) and 4 with patients (n = 23) in 6 healthcare centers. Two qualified analysts independently summarized transcripts, using RQA templates of key domains drawn from interview guides to summarize and organize data in matrices, enabling systematic comparison. Results: The main themes identified were minimal organizational tobacco cessation support and practices, and attitudinal barriers, as follows: (1) the need for program materials tailored to local populations; (2) limited tobacco cessation practices and partial policies—staff requested guidance on enhancing tobacco screenings and cessation delivery, and integrating new interventions; (3) contradictory views on treating tobacco use that can inhibit implementation (e.g., wanting to quit yet anxious that quitting would cause SUD relapse); and (4) inadequate environmental supports—staff requested treating tobacco-use training, patients group cessation counseling; both requested nicotine replacement therapy. Conclusions: RQA identified key areas requiring capacity development through participants’ willingness to adopt the following adaptations: program content (e.g., trainings and tailored educational materials), delivery methods/systems (e.g., adopting additional tobacco care interventions) and implementation strategies (e.g., integrating tobacco cessation practices into routine care) critical to optimizing TFWP fit and implementation. The study findings can inform timely formative evaluation processes to design and tailor similar intervention efforts by addressing site-specific needs and implementation barriers to enhance program uptake. Full article

Background/Objectives: Weight gain is frequently observed during and following breast cancer therapy. Women with overweight/obesity have poorer breast cancer prognoses and are more likely to develop comorbidities. The present study describes the development and qualitative assessment of the acceptability of the NutriLife study, a lifestyle weight management intervention with dietetic counseling and digital tools for breast cancer survivors (BCSs). Methods: The intervention was developed using the Medical Research Council (MRC) framework, informed by a systematic literature review and stakeholder input. Acceptability was assessed using the Theoretical Framework of Acceptability (TFA). A total of 22 BCSs with overweight/obesity participated in focus groups, and 5 dietitians/nutritionists specializing in breast cancer in Greece participated in semi-structured interviews. The data were further analyzed using thematic analysis. Results: Stakeholders assessed the intervention as acceptable across all TFA constructs. The intervention was characterized as supportive, easily adaptable, time-efficient, well-organized, beneficial, and professionally driven, with potential barriers including limited personal time, inadequate digital literacy, insufficient self-care, and lack of commitment. Gradually increasing goals may be helpful and less stressful, while educational resources enhance focus on these objectives, thus encouraging intervention participation. Ensuring confidentiality was perceived as central to promoting health. Conclusions: The evidence-based, co-participatory design of the NutriLife intervention was perceived as acceptable by the participating stakeholders and will be pilot-tested in a randomized controlled trial. Full article

Metabolic dysfunction-associated steatotic liver disease (MASLD) has emerged as the leading cause of chronic liver disease worldwide, driven by the global epidemics of obesity, type 2 diabetes, and metabolic syndrome. In this evolving nosological landscape, alcohol consumption—traditionally excluded from the diagnostic criteria of non-alcoholic fatty liver disease (NAFLD)—has regained central clinical importance. The recently defined MetALD phenotype acknowledges the co-existence of metabolic dysfunction and a significant alcohol intake, highlighting the synergistic nature of their pathogenic interactions. This narrative review provides a comprehensive analysis of the biochemical, mitochondrial, immunometabolic, and nutritional mechanisms through which alcohol exacerbates liver injury in MASLD. Central to this interaction is cytochrome P450 2E1 (CYP2E1), whose induction by both ethanol and insulin resistance enhances oxidative stress, lipid peroxidation, and fibrogenesis. Alcohol also promotes mitochondrial dysfunction, intestinal barrier disruption, and micronutrient depletion, thereby aggravating metabolic and inflammatory derangements. Furthermore, alcohol contributes to sarcopenia and insulin resistance, establishing a bidirectional link between hepatic and muscular impairment. While some observational studies have suggested a cardiometabolic benefit of a moderate alcohol intake, emerging evidence challenges the safety of any threshold in patients with MASLD. Accordingly, current international guidelines recommend alcohol restriction or abstinence in all individuals with steatotic liver disease and metabolic risk. The review concludes by proposing an integrative clinical model and a visual cascade framework for the assessment and management of alcohol consumption in MASLD, integrating counseling, non-invasive fibrosis screening, and personalized lifestyle interventions. Future research should aim to define safe thresholds, validate MetALD-specific biomarkers, and explore the efficacy of multidisciplinary interventions targeting both metabolic and alcohol-related liver injury. Full article

Unilateral renal agenesis (URA) is a urinary tract congenital anomaly characterized by a congenital absence or early developmental arrest of only one kidney. In the presence of a normal contralateral kidney, URA is typically considered a condition of minimal clinical significance as the solitary kidney often undergoes hypertrophy and can sufficiently perform the needed renal function after birth. However, postnatal studies suggest that URA has a significant association with other urinary and extra-urinary anomalies and may have implications for long-term health. This descriptive review focuses on the perinatal aspects of URA, emphasizing the main ultrasound findings to establish the prenatal diagnosis and to guide perinatal management. The pediatric implications of this diagnosis, particularly the high prevalence of long-term complications including hypertension, proteinuria, and a decreased glomerular filtration rate, are also briefly reviewed. URA is consistently associated with other ipsilateral urogenital anomalies. In females, there is a significant association with uterine anomalies that has significant implications for subsequent reproductive function. In males, the prevalence of both urinary and genital anomalies is also increased, which may also have implications for future fertility. Prenatal ultrasound offers the possibility of early diagnosis and parental counseling, which may result in timely intervention to reduce contralateral renal damage, prevent severe urogenital manifestations and co-morbidities, and improve fertility and the quality of life. Full article

Background/Objectives: According to the International Classification of Hereditary Skeletal Diseases (2019), osteogenesis imperfecta (OI) is classified as a disorder resulting from impaired formation of the cortical layer density of diaphyses and metaphyseal modeling. OI comprises a heterogeneous group of genetic diseases, with most cases inherited in an autosomal dominant manner, while others follow autosomal recessive or X-linked recessive inheritance patterns. Accurate DNA testing is essential for precise medical and genetic counseling, ensuring reliable prognostic assessments for patients’ descendants and siblings. As part of a medical genetic study of the population of the Republic of the North Ossetia Alania, specifically in the Mozdok district, specialists from the Laboratory of Genetic Epidemiology at the Research Centre for Medical Genetics (RCMG) examined a family with 13 affected individuals with OI across four generations. Methods: A comprehensive clinical assessment was performed, followed by molecular genetic analysis using whole-exome sequencing (WES). Segregation analysis within the family was conducted via Sanger sequencing. Results: Clinical evaluation suggested a diagnosis of OI, which was subsequently confirmed by genetic testing. The severity and spectrum of symptoms varied considerably among affected family members and were influenced by age and specific nuclear family lineage. Molecular analysis in the proband identified a heterozygous pathogenic variant in the COL1A1 gene variant (c.1243C>T, p.(Arg415*)), confirming a diagnosis of OI type IV. The variant was found to co-segregate with the disease within the family. Conclusions: Molecular diagnosis enabled precise risk assessment for affected offspring in family members with mild phenotypic manifestations. Additionally, pediatric patients were referred for standard bisphosphonate therapy to manage the condition effectively. Full article

Background/Objectives: The opioid crisis has disproportionately impacted U.S. military veterans, who face heightened risks of opioid use disorder and overdose due to chronic pain and mental health conditions. The pharmaceutical industry’s role in misrepresenting opioid risks—leading to over USD 50 billion in legal settlements—has included targeted marketing to vulnerable populations. This study examines Janssen Pharmaceuticals’ “Imagine the Possibilities Pain Coalition” (IPPC), which aimed to increase opioid use among veterans with chronic non-cancer pain. Insights from this public health industry document analysis offer guidance for military medicine and healthcare policymaking. Methods: Using the Opioid Industry Document Archive (OIDA), housed at Johns Hopkins University and the University of California, San Francisco, researchers conducted retrospective content analysis. Documents referencing veterans were identified through keyword searches on Johns Hopkins’ SciServer portal and reviewed using CoCounsel, an AI-based legal document platform using a human-in-the-loop approach. Relevant documents were examined by the authors to extract material aligned with the research focus. Results: The IPPC employed strategies to influence opioid prescribing for veterans. These included educational materials that minimized addiction risks and exaggerated long-term benefits and empathy-driven narratives prioritizing immediate pain relief over potential harms. Ghostwriting ensured favorable perspectives on opioids in scientific literature, aligning with broader industry strategies to promote opioids for chronic pain. Conclusions: The targeted marketing of opioids to veterans has exacerbated the opioid crisis, as documented in government reports and litigation. Rigorous oversight of industry-funded coalitions and evidence-based practices are critical to insulating military healthcare from corporate influence and addressing the opioid crisis among veterans. Full article

The data about pregnancy while having a low ejection fraction are scarce, since pregnancy is not recommended for women with an ejection fraction of less than 30%. There is an increased risk of obstetrical complications and adverse maternal-fetal outcomes. Pregnancy is a rough journey for this group of patients. However, a successful pregnancy can be achieved when cardiac complications are managed during pregnancy. The early recognition of women at risk of cardiovascular events and early referral can optimize the maternal and neonatal outcomes with close collaboration between the maternal-fetal medicine specialist and the cardiologist. The study’s aim was to assess the experience of our tertiary center with regard to the adverse maternal outcome for women with an ejection fraction ≤ 30% compared to those with an EF > 30% in our tertiary center. The fetal and obstetric outcome for pregnancies with an EF ≤ 30% was compared to that for pregnancies with an EF > 30%. Methodology: After receiving the approval of the local Ethical Board Review, a retrospective study was conducted at King Faisal Specialist Hospital and Research Center (KFSHRC) in the city of Riyadh, Kingdom of Saudi Arabia. Our study population included women with cardiomyopathy (acquired or congenital) who were followed up or delivered in KFSHRC from the period of January 2004 till March 2020. Cases were identified by reviewing the database from the Cardiac Center Echocardiograph and maternal fetal medicine unit. The data on the maternal and fetal outcome were gathered from the hospital medical records. An adverse maternal outcome included: death, hospitalization due to decompensated heart failure, and worsening cardiovascular status during pregnancy. Adverse fetal outcomes included: miscarriages, termination of pregnancy, FGR, and placental insufficiency. Obstetrics complications included: complications related to the mode of delivery, antepartum hemorrhage, postpartum hemorrhage, or preeclampsia. Results: Our study included 44 subjects, examining the differences between those with an ejection fraction greater than 30 (n = 21 subjects) and those with an ejection fraction less than or equal to 30 (n = 23) with respect to demographics, co-morbidities, and outcomes (maternal, pregnancy, fetal, ultrasound, and baby). There was no evidence of any differences in the demographics. From among the co-morbidities, there was a statistically higher rate of dilated cardiomyopathy and lower rate of rheumatic heart disease in those with a lower ejection fraction. Also, women with a lower ejection fraction tended to deliver through a means other than simple vaginal delivery. There was a significant association (p = 0.0296) indicating that individuals with a lower ejection fraction tended to have a lower gestational age at delivery. The information on whether the pregnancy resulted in a live birth was available for all but one of the mothers. Across all the mothers, 32 (74%) resulted in a live birth and 11 did not. The percentage of pregnancies resulting in a live birth in the group for which the ejection fraction was greater than 30 was 90% and that in the group for which the ejection fraction was less than or equal to 30 was 59% (p = 0.0339). From among the ultrasound and baby outcomes, only the rate of the babies being discharged alive differed statistically between the two ejection fraction groups, with those mothers having a lower ejection fraction experiencing fewer babies being discharged alive (p = 0.0310). Conclusions: In conclusion, women with a low ejection fraction are at an increased risk of maternal-fetal complications. In our study, the lower the EF (≤30) the worse were the fetal and neonatal outcomes; however, in terms of the maternal outcomes, it was the same whether the EF was low or ultra-low. Yet, these groups of patients need to be counseled about the facts of poor obstetrical outcomes with an emphasis on preconceptual counseling. Full article

Background: CUOB (co-existent underactive overactive bladder) syndrome is a clinical entity that embraces storage and emptying symptoms, not strictly correlated with urodynamic findings. We assessed the differences between patients diagnosed with CUOB with/without cystocele. Methods: The study group was allocated from 2000 women who underwent urodynamic studies between 2008 and 2016. The demographic and clinical data of 369 patients with complaints consistent with CUOB were retrieved. The study group was subdivided using the Pelvic Organ Prolapse Quantification System. The International Consultation on Incontinence Questionnaire Short Form (ICIQ-UI SF) was used to quantify LUTS severity. Results: A total of 185 women had no or grade I cystocele (group 1), and 185 had grade II or III cystocele (group 2). No difference in mean age was computed. Patients from group 1 had a higher BMI (27 vs. 25, p = 0.02). Risk factors for prolapse, such as parity (1.7 vs. 2.1, p = 0.001) and maximal birthweight (3460 g vs. 3612 g, p = 0.049), were higher in group 2. Pelvic Organ Prolapse symptoms were 4.5 times more frequent in group 2 [n = 36/185 (19.5%) vs. n = 162/184 (88%) p < 0.001]. The rate of stress (70.8% vs. 55.4%, p = 0.002) and urge (64.9% vs. 50%, p = 0.04), urinary incontinence, and ICIQ-UI-SF scores (8 vs. 5, p < 0.001) were higher in group 1. Qmax measured lower in group 2 (17 vs. 15 mL/s, p = 0.008). Detrusor pressure at maximum flow was identical (24 cm H₂O). The Bladder Contractility Index (BCI) was higher in group 1 (108 vs. 96.5, p = 0.017), and weak contraction (BCI < 100) was more common in group 2 (73/185; 39.5% vs. 95/184; 52.7%, p = 0.011). Conclusions: Based on our results, we assume that CUOB could be further subdivided based on its association with cystocele. The effect of prolapse repair in women with CUOB and cystocele remains to be evaluated in order to afford better counseling in the future. Full article

Post/Long COVID (syndrome) is defined as a condition with symptoms persisting for more than 12 weeks after the onset of SARS-CoV-2 infection that cannot be explained otherwise. The prevalence of self-reported otorhinolaryngological Post/Long COVID symptoms is high. The aim of this review was to analyze the current literature regarding the actual prevalence, knowledge of the etiopathology, and evidence-based treatment recommendations of otorhinolaryngology-related Post/Long COVID symptoms. A systematic literature search of articles published since 2019 in PubMed and ScienceDirect was performed and resulted in 108 articles. These were the basis for this review and formed a comprehensive series of consented therapy statements on the most important of otorhinolaryngology-related Post/Long COVID symptoms. Otorhinolaryngological symptoms did not appear isolated but as part of a multi-organ syndrome. Self-reported otorhinolaryngology-related Post/Long COVID symptoms were often not confirmed by objective testing. The confirmed prevalence estimated for anosmia, dysgeusia, cough, facial palsy, hoarseness/dysphonia, acute hearing loss, tinnitus, and vertigo/dizziness was about 4%, 2%, 4–19%, 0%, 17–20%, 8%, 20%, and 5–26%, respectively. There are manifold theoretical concepts of the etiopathology of different symptoms, but there is no clear evidence-based proof. This certainly contributes to the fact that there is no effective specific treatment option for any of the symptoms mentioned. Healthcare pathways must be established so that otorhinolaryngological Post/Long COVID symptoms can be recognized and evaluated and otorhinolaryngologists can provide counseling. This would also help to establish and selectively include patients in clinical trials investigating specific therapeutic concepts. Full article

Introduction: Risk factors, a 75-year-old concept, are instrumental in the management of the general population. Newer biomarkers can explain residual risk and protection from risk. The population needs a new platform to make more comprehensible the importance of managing risk. Biologic age, the number of years left to live, is the platform that will receive the attention of patients. Method: Risk factor odds ratios are used to approximate the years lost to the modifiable risk, calculating a biologic age. Newer biomarkers confirm the predication and can be used to explain the pleomorphic properties of medications and unrealized risk. The biomarkers represent the following biologic processes: repair, inflammation, immune function, hematologic, clotting factors, metabolic-nutritional, organ maintenance, anthropomorphic, environmental, endothelial function, sleep, co-morbidities, frailty, and electromagnetic. Risk factors and biomarkers are ranked in the order of significance in reducing biologic age. Results: A six-step method of patient management using biologic age and biomarkers is presented. Conclusions: Knowledge of risk factors and therapies to improve risk has increased over the last 75 years. Biologic age is more appropriate in explaining the significance of this knowledge and may improve patient compliance to lifestyle changes and medication compliance. Appropriate counseling with utilization of biomarkers of biologic processes, such as high sensitivity-CRP, circulating stem cells, number of co-morbidities, frailty, electrocardiogram, and pulse wave velocity will improve compliance and personalize care. The 6-minute walk should be incorporated into the vital signs due to prognostic significance. Full article

Background/Objectives: Caregivers of children with chronic illnesses, including chronic pain, experience high levels of distress, which impacts their own mental and physical health as well as child outcomes. Virtual care solutions offer opportunities to provide accessible support, yet most overlook caregivers’ needs. We conducted a scoping review to create an interactive Evidence and Gap Map (EGM) of virtual care solutions across a stepped care continuum (i.e., from self-directed to specialized care) for caregivers of youth with chronic illnesses. Methods: The review methodology was co-designed with four caregivers. Data sources were the peer-reviewed scientific literature and a call for innovations. Records were independently coded and assessed for quality. Results: Overall, 73 studies were included. Most virtual care solutions targeted caregivers of children with cancer, neurological disorders, and complex chronic illnesses. Over half were noted at lower levels of stepped care (i.e., self-guided apps and websites), with psychological strategies being predominant (84%). However, very few addressed caregivers’ physical health (15%) or provided family counseling (19%) or practical support (1%). Significant gaps were noted in interventions for managing caregiver chronic pain, despite its high prevalence and impact on child outcomes. Conclusions: Evidence and Gap Maps are innovative visual tools for knowledge synthesis, facilitating rapid, evidence-informed decision-making for patients, families, health professionals, and policymakers. This EGM highlighted high-quality virtual care solutions ready for immediate scaling and identified critical evidence gaps requiring prioritization. To address the complexities of pediatric chronic illnesses, including chronic pain, virtual care initiatives must prioritize family-centered, accessible, and equitable approaches. Engaging caregivers as partners is critical to ensure interventions align with their needs and priorities. Full article

Background: Orofacial clefts are the most common craniofacial congenital malformation in humans. Approximately 30% of clefts arise as part of a syndrome or sequence, characterised by co-existing structural and functional anomalies. Many syndromes are thought to be undiagnosed, although the presence of multiple anomalies may indicate the presence of a syndrome or sequence. Aim: To determine the extent to which the presence of additional structural and functional anomalies can help to identify those children with an undiagnosed syndrome. Methods: Secondary data analysis was performed using data from 1701 children born with an orofacial cleft, collected as part of a longitudinal cohort study, the Cleft Collective. Data were collected between 2013 and 2023 across the United Kingdom. The prevalence of structural and functional anomalies and syndromes were explored using descriptive statistics. Logistic regression was used to determine the extent to which anomalies can predict syndromic status. Results: A syndrome and/or sequence was reported in 20.5% children. Among children who reported five or more anomalies, the prevalence of a diagnosed syndrome was 81.5%. When adjusting for cleft subtype and sex, in 27 out of 32 anomalies tested, strong evidence was found to suggest increased odds of having a syndrome if the specific anomaly was present compared to if the anomaly was absent (p-values ranged between 1.4 × 10⁻³⁰ and 0.002). Conclusions: Children born with a cleft who present with two or more anomalies are much more likely to have a syndrome than those with fewer anomalies and should be prioritised for genetic screening and counselling. Full article

Children from multicultural families (i.e., families with at least one parent from a foreign country other than Korea) in South Korea face increased risks of adverse life conditions at home and school. However, few studies have investigated the cumulative effects of family and school adversities, especially internalizing behaviors in this population. This study examined the association between neglect and internalizing behaviors (i.e., depression and social withdrawal) and whether victimization from school violence amplifies the impact of neglect. Data were drawn from the second wave of the Multicultural Adolescents Panel Study (MAPS), which was constructed by the National Youth Policy Institute (NYPI) and included 1500 fifth-graders surveyed in 2012. We first examined the moderating effect of school violence victimization on the association between neglect and depression and subsequently tested the same model to predict social withdrawal. This study showed that neglect significantly increased depression and social withdrawal. Additionally, the impact of neglect on depression and social withdrawal intensified when school violence coexisted. The findings of this study suggest that children from multicultural families exposed to co-occurring adversities require more attention. Assessment of polyvictimization and psychological counseling are necessary for supporting these children who have suffered violence at home and school. Full article