Search Results (36)

Each year, many neonates are born with genetic diagnoses that carry a range of prognoses. As the types and availability of genetic testing have expanded, neonatal intensive care units (NICUs) have served as “launching points” for their clinical application. Broad genetic testing has both improved diagnostic precision and expanded uncertainty. Genetic information may be explicitly uncertain, as in the case of a variant of unknown significance (VUS). But it is also frequently uncertain whether/how the information relates to a patient’s phenotype or what it may mean for a child’s future. Even without ambiguity in the diagnosis or prognosis, the significance within a clinical and familial context may be less certain. Applying the information to clinical care is complex and may engender confusion among clinicians and families as readily as it offers guidance. Since genetic testing results can impact management and, at times, end-of-life decisions, misunderstanding and misapplication of genetic results pose a significant risk. We describe a hypothetical case of an infant with congenital hypotonia and respiratory failure. The family, after discussions with the care team about medically appropriate care paths, is navigating goals of care and considering tracheostomy placement for chronic mechanical ventilation. They consent to rapid genome sequencing in hopes of better understanding the etiology and severity of the neuromuscular condition. We explore three possible scenarios following different genomic results. With each, we discuss how the results may impact decision-making about the best plan of care. We propose a framework for navigating discussions about genetic testing results with families of critically ill children. We illustrate the importance of a multidisciplinary approach with collaboration between neonatology, genetics, and palliative care. By employing the strengths of each subspecialty, providers can manage the inherent uncertainty in genetic testing results, help determine the meaning of the results to the family in the context of their child’s medical care, and enhance the care and support of critically ill neonates and their families. Full article

Background/Objectives: Pediatric osteoporosis is a multifactorial condition characterized by impaired bone mineralization and increased fracture risk, particularly vertebral compression fractures. This study aims to evaluate the diverse etiology, diagnostic challenges, and treatment options for pediatric osteoporosis in a cohort of affected children. Methods: We reviewed eleven pediatric patients (aged 5–16 years) diagnosed with vertebral fractures and osteoporosis, who were hospitalized between 2020 and 2024 at the Department of Endocrinology and Metabolic Diseases at PMMH-RI in Lodz. Clinical evaluation included medical history, physical examination, biochemical markers of bone metabolism, and imaging techniques such as dual-energy X-ray absorptiometry (DXA) to determine underlying causes of bone fragility. Results: The cohort presented a broad etiological spectrum, including seven patients with genetic disorders (e.g., mutations in COL1A1, LRP5, SGMS2, and ALPL genes) and secondary osteoporosis due to chronic diseases requiring prolonged glucocorticoid therapy (two patients with Duchenne muscular dystrophy (DMD), one patient with Crohn’s disease) or endocrinological disorders (one patient with Cushing disease). Vertebral fractures were confirmed in all patients, with back pain as the predominant symptom. Low bone mass (BMD Z-score < −2.0) was observed in eight individuals; in others, clinical signs of skeletal fragility were present despite Z-scores above this threshold. Mild biochemical abnormalities included hypercalciuria (3/11 cases) and vitamin D deficiency (6/11 cases). Height adjustment improved BMD interpretation in short-stature patients. Most children received bisphosphonate therapy, supplemented with calcium and vitamin D. In two patients, bisphosphonates were not used due to lack of parental consent or underlying conditions in which such treatment is not recommended. Conclusions: Pediatric osteoporosis requires a multidisciplinary diagnostic and therapeutic approach, integrating clinical, biochemical, and genetic factors. It is a heterogeneous and often underrecognized condition, with vertebral fractures frequently serving as its earliest sign—even in the absence of overt symptoms or low bone mass. This underscores the need for clinical vigilance, as significant skeletal fragility may occur despite normal BMD values. Importantly, pediatric osteoporosis may also impact the attainment of peak bone mass and ultimately affect final adult height. Early diagnosis through thorough assessment, including height-adjusted DXA, and a multidisciplinary approach are essential to ensure timely management and prevent long-term complications. Full article

The SARS-CoV-2 pandemic presents a broad clinical spectrum from asymptomatic cases to severe respiratory failure with high mortality. Severe COVID-19 is characterized by immune dysregulation, including lymphopenia and alterations in the counts of T, B, and NK cells in peripheral blood. Due to the limited data on long-term outcomes related to immune dysregulation, we aimed to analyze immunologic features at baseline in severe and mild COVID-19 cases and assess follow-up characteristics associated with later mortality and long-COVID signs. We included adult patients consecutively hospitalized with COVID-19 between June and November 2020 at the University Hospital in Kraków, corresponding to the first and second waves of COVID-19 in Poland. We enrolled only those who had been thoroughly assessed in terms of clinic and laboratory data, including immunological workups, and survived the acute phase of the disease. In 2025, between February and April (median time of follow-up: 54 months), we conducted a telephone questionnaire on long-COVID symptoms among survivors who had given their consent. Statistical analyses were performed to compare groups with severe and mild disease in terms of dysregulation in lymphocyte subpopulations and the follow-up outcomes. The study included 103 COVID-19 patients, comprising 53 severe (based on the need for at least high-flow nasal oxygen therapy) and 50 mild cases, with no differences in age, sex, and body mass index. Severe COVID-19 patients compared to mild cases had lower CD3+ T cells (count and percentage), CD4+ T cells (count and percentage), CD8+ T cells (count), and NK cells (count), but higher CD19+ B cells (percentage) at baseline (p < 0.05, all). At the time of follow-up, we evaluated 80 patients (77.7% of the baseline participants), with 23 (22.3%) patients lost to follow-up. Among patients analyzed in the follow-up, 23 (28.8%) had died, and 29 of the 57 survivors (50.9%) reported persistent long-COVID symptoms. Patients who died had significantly lower baseline counts of CD3+ T cells (377 vs. 655 cells/µL), CD4+ T cells (224 vs. 372 cells/µL), CD8+ T cells (113 vs. 188 cells/µL), and NK cells (118 vs. 157 cells/µL) compared to survivors (p < 0.05, all). Notably, the percentage of CD19+ B cells was higher in deceased individuals (19.2% vs. 13.5%; p = 0.049). In contrast, we did not document differences in baseline immunological data among survivors with and without long-COVID signs. Our study suggests that dysregulation in lymphocyte subpopulations during the COVID-19 acute phase may be associated with increased late mortality, but not with the persistence of long-COVID symptoms. Full article

Aim: The purpose of this study was to explore the broad experience of continuous glucose monitoring from the perspective of patients diagnosed with type 1 diabetes mellitus, including not only their emotions and feelings but also the lifestyle changes, perceptions, and social aspects associated with its use. Design: This is a phenomenological qualitative study. Patient or Public Contribution: The sample consisted of 10 adult patients diagnosed with type 1 diabetes who had been using the continuous glucose monitoring system for at least 6 months and were patients of the Endocrinology and Nutrition Service of the University Hospital Complex of Ourense. Methods: The recorded interviews were conducted in November 2024. The conversations were audio-recorded with the participants’ consent, and then transcribed for thematic analysis. Results: Three main categories were identified: “experience prior to continuous glucose monitoring” (accessibility, prior knowledge, and expectations), “experience with the use of continuous glucose monitoring” (perception of healthcare support, concerns, strengths, and alarm management), and “experience regarding the disease” (self-management of the disease and safety). Despite the fact that diabetes mellitus is a complex chronic disease, all participants provided a positive assessment of their progress and improved control through continuous glucose monitoring. Conclusions: All participants felt more secure and protected with continuous glucose monitoring, improving their quality of life. The main concern among the subjects was the possibility of the sensor failing. They positively valued the alarm system in case of hypoglycemia. The CGM is a highly effective tool for the management and self-control of diabetes and promotes the relationship between patients and professional health. Impact: The findings of this study have important implications for clinical care, highlighting the need for more training and more health education at the first level of health care, such as health centers. Full article

Moralization is the process by which preferences become moral values. We investigated a practice that is changing its moral status on college campuses in the United States: affirmative consent to sexual activity. We tested whether messages given to students just before they entered a party impacted their thinking about consent in moral terms—i.e., as a clear issue, with broad consensus, and an imperative to action. At two social clubs on a college campus in 2017, we randomly assigned moralistic vs. informational messages about consent, delivered at the party’s door. At the club that had pre-existing messaging about consent, the moralistic (vs. informational) message increased students’ thinking about consent in moral terms. By contrast, in the club without prior consent messaging, the informational (vs. moralistic) pledge increased students’ thinking about consent in moral terms. We then investigated and found weak evidence for a small reduction in administrative-level student conduct complaints compared to prior and subsequent years as a result of a one-night consent message treatment unique to each of the 12 clubs hosting a party. Theoretically, our findings make progress toward understanding processes of moralization. Pragmatically, they suggest the importance of locally tailored messages that reflect and shape the values of social groups. Full article

Background: As national and international reports reveal, significant health care transition (HCT) service disparities exist for youth and young adults with intellectual and developmental disabilities (YYAs with IDD). The development of the HCT model necessitates informed perspectives from a broad constituency, including consumers and families. Parents’ retrospective perspectives of their sons’ or daughters’ HCT experiences are presented to enlarge the understanding of the service need. Methodology: Eleven parents were recruited virtually from parent support/disability advocate groups via an email distribution list of the Children’s Hospital Los Angeles University Center for Excellence in Developmental Disabilities. Parents who consented to participate were interviewed by phone using an interview guide with 11 open-ended items. Three questions focused on the barriers and facilitators associated with the HCT experience are reported. Findings: Four major themes were generated from the analysis of data gathered from parents pertaining to their sons’ or daughters’ health care transition experiences, focusing on the transfer of care. Two major themes were related to HCT barriers—Pediatric Care Contrasted with Adult-Focused Care and Transfer of Care Barriers—and two were related to HCT facilitators—Transfer of Care Facilitators and Transfer of Care Recommendations. Each of the major themes included subthemes. Conclusions: Parents openly shared their sons’ or daughters’ HCT experiences, which illuminated the scope of their challenges and the assistance received. These insights provide rich descriptions of the barriers they and their adult children faced as they proceeded with navigating new systems of health care. The reported data find support in other previously conducted studies. Full article

Inappropriate prescription patterns and polypharmacy are critical challenges facing the optimal management of schizophrenia patients, especially in regard to patient safety. Background/Objectives: The purpose of this study was to examine the relationship between patient safety and the existence of incorrect prescription patterns and/or polypharmacy in the medications prescribed to individuals with schizophrenia. This issue is addressed in a broad context, highlighting the purpose of this study. Methods: A cross-sectional study was adopted, involving a prospective analysis of the prescriptions of schizophrenia patients receiving treatment. Prescription patterns deemed inappropriate were evaluated based on evidence-based guidelines. Antipsychotic maximum allowable daily doses were calculated using the British National Formulary Maximum Daily Dose (BNFmax), an online tool. Patient safety outcomes were assessed using the Glasgow Antipsychotic Side-effect Scale (GASS). Results: A total of 198 patients diagnosed with schizophrenia and receiving treatment consented to participate in the GASS survey. A total of 116 (58.6%) males participated. The mean age of patients was 40.1 (±12.7). Thirty-one (66.2%) reported mild side effects, while 67 (33.8%) reported moderate side effects. Polypharmacy was detected in 103 (52%) patients’ prescriptions. The correlation between GASS and BNFmax was positive and statistically significant (p < 0.001). The elevation in GASS score was associated with polypharmacy prescriptions (OR 3.21; 95% CI 1.64–6.29), the presence of first-generation antipsychotics (FGAP) (OR 2.79; 95% CI 0.236–5.951), any combination of antipsychotics containing haloperidol (OR 3.22; 95% CI 1.11–9.32), and olanzapine (OR 3.46; 95% CI 1.36–8.79). Conclusions: The safety of patients with schizophrenia has been proven to be impacted by the improper use of psychotropic drugs. Following evidence-based guidelines is a cornerstone to ensuring optimal, effective, and safe patient treatment plans. Full article

Background: Fabry disease (FD) results from pathogenic GLA variants, causing lysosomal α-galactosidase A (α-GalA) deficiency and sphingolipid ceramide trihexoside (Gb3 or THC) accumulation. Disease phenotype varies widely but cardiomyopathy is commonly life-limiting. As a multisystemic disorder, FD initiates at the cellular level; however, the mechanism/s underlying Gb3-induced cell dysfunction remains largely unknown. This study established an in vitro mutation-specific model of Fabry cardiomyopathy using human-induced pluripotent stem cell (iPSC)-derived cardiomyocytes to explore underlying cell pathology. Methods: Skin biopsies from consenting Fabry patients and normal control subjects were reprogrammed to iPSCs then differentiated into cardiomyocytes. The GLA mutations in Fabry cell lines were corrected using CRISP-Cas9. Phenotypic characteristics, α-Gal A activity, Gb3 accumulation, functional status, and lipid analysis were assessed. Cardiomyocytes derived from two patients with severe clinical phenotype and genotypes, GLA^c.851T>C, GLA^{c.1193_1196del}, and their respective corrected lines, GLA^{corr c.851T>C}, GLA^{corr c.1193_1196del}, were selected for further studies. Results: Cardiomyocytes derived from individuals with FD iPSCs exhibited stable expression of cardiomyocyte markers and spontaneous contraction, morphological features of FD, reduced α-Gal A activity, and accumulation of Gb3. Lipidomic profiling revealed differences in the Gb3 isoform profile between the control and FD patient iPSC-derived cardiomyocytes. Contraction strength was unchanged but relaxation after contraction was delayed, mimicking the diastolic dysfunction typical of Fabry cardiomyopathy. Conclusions: iPSC-derived cardiomyocytes provide a useful model to explore aspects of Fabry cardiomyopathy, including disruptions in sphingolipid pathways, proteomics, and multigene expression that together link genotype to phenotype. The platform potentially offers broad applicability across many genetic diseases and offers the prospect of testing and implementation of individualised therapies. Full article

The broad aim of this introduction to a Special Issue on “Susceptibilities: Toward a Cultural Politics of Consent under Erasure” is to broach key questions and research directions that illuminate contemporary public debates about the conditions and limits of conscious intention (and consent as a byproduct thereof), which is typically treated as a “property” that can be “underdeveloped”, “given”, or “taken away”. In keeping with Jacques Derrida’s repudiation of the metaphysics of presence, the perspective animating this essay is that the psychoanalytic standpoint of the unconscious deconstructs the epistemological privilege of determinacy, consistency, and wholeness in treatments of intentional consciousness. Given Jean Laplanche’s attention to the residues of coherent ego fetishism in Sigmund Freud’s oeuvre, the former’s critique of self-sovereignty as evinced in his theorization of the “enigmatic signifier”, “primal repression”, and “afterwardsness” assumes a pivotal role in the analysis of how writers as represented here by Sarah Polley in Run Towards the Danger narrate the vicissitudes of their traumatic memories of sexual assault. Ultimately, then, the implications of this analysis will carry over to brief discussions of this Special Issue’s seven contributions by Melissa Wright, Karen McFadyen, J. Asher Godley, Madeleine Reddon, Gautam Basu Thakur, Robert Hughes, and Rebecca Saunders. Full article

ChatGPT, developed by OpenAI, is a large language model (LLM) that leverages artificial intelligence (AI) and deep learning (DL) to generate human-like responses. This paper provides a broad, systematic review of ChatGPT’s applications in healthcare, particularly in enhancing patient engagement through medical history collection, symptom assessment, and decision support for improved diagnostic accuracy. It assesses ChatGPT’s potential across multiple organ systems and specialties, highlighting its value in clinical, educational, and administrative contexts. This analysis reveals both the benefits and limitations of ChatGPT, including health literacy promotion and support for clinical decision-making, alongside challenges such as the risk of inaccuracies, ethical considerations around informed consent, and regulatory hurdles. A quantified summary of key findings shows ChatGPT’s promise in various applications while underscoring the risks associated with its integration in medical practice. Through this comprehensive approach, this review aims to provide healthcare professionals, researchers, and policymakers with a balanced view of ChatGPT’s potential and limitations, emphasizing the need for ongoing updates to keep pace with evolving medical knowledge. Full article

Background/Objectives: Malpractice in cardiovascular surgery was addressed from the forensic pathology perspective, offering reflections on risk prevention in the Italian context. Litigation and risk management in healthcare, following the Italian law on safety of care, clinical risk management and professional liability, should be viewed in an integrated manner. Methods: We conducted a narrative review on litigation data and the principal areas of complaint in Italy regarding the cardiovascular field. The aim is to discuss human, communicative, organisational, technological and regulatory factors that may play a role in this phenomenon. Results: We discuss the importance of information and consent and the management and monitoring of competences, particularly in specialised activities, given the current human capital deficit. Furthermore, we focus on the centrality of the surgical indication focusing on benefit-risk balance in light of clinical guidelines and team-based evaluation, such as by an emergency heart team, to better tailor care to patients. At the facility level, the minimum volume of activity and the requirements for human resources, specialisations, technologies and organisation standards needed for health activity authorisation are highlighted as foundational to risk prevention. Furthermore, we discussed the availability of the minimum diagnostic and care tools in compliance with guidelines and the role of company clinical and organisational protocols. Conclusions: In the surgical, time-sensitive, highly specialised and technologically advanced sector, the importance of enterprise risk prevention and broad, value-based governance to ensure healthcare quality and safety is emphasised. Full article

Although a lack of diversity in genetic studies is an acknowledged obstacle for personalized medicine and precision public health, Latin American populations remain particularly understudied despite their heterogeneity and mixed ancestry. This gap extends to COVID-19 despite its variability in susceptibility and clinical course, where ethnic background appears to influence disease severity, with non-Europeans facing higher hospitalization rates. In addition, access to high-quality samples and data is a critical issue for personalized and precision medicine, and it has become clear that the solution lies in biobanks. The creation of the Chilean COVID-19 Biorepository reported here addresses these gaps, representing the first nationwide multicentric Chilean initiative. It operates under rigorous biobanking standards and serves as one of South America’s largest COVID cohorts. A centralized harmonization strategy was chosen and included unified standard operating procedures, a sampling coding system, and biobanking staff training. Adults with confirmed SARS-CoV-2 infection provided broad informed consent. Samples were collected to preserve blood, plasma, buffy coat, and DNA. Quality controls included adherence to the standard preanalytical code, incident reporting, and DNA concentration and absorbance ratio 260/280 assessments. Detailed sociodemographic, health, medication, and preexisting condition data were gathered. In five months, 2262 participants were enrolled, pseudonymized, and sorted by disease severity. The average Amerindian ancestry considering all participant was 44.0% [SD 15.5%], and this value increased to 61.2% [SD 19.5%] among those who self-identified as Native South Americans. Notably, 279 participants self-identified with one of 12 ethnic groups. High compliance (>90%) in all assessed quality controls was achieved. Looking ahead, our team founded the COVID-19 Genomics Network (C19-GenoNet) focused on identifying genetic factors influencing SARS-CoV-2 outcomes. In conclusion, this bottom-up collaborative effort aims to promote the integration of Latin American populations into global genetic research and welcomes collaborations supporting this endeavor. Interested parties are invited to explore collaboration opportunities through our catalog, accessible online. Full article

While kinship care is prevalent and preferred over out-of-family care, there are relatively few measurement tools validated for use with this audience. The Title IV-E Clearinghouse, used to rate Families First Prevention Services such as Kinship Navigator Programs, requires valid tools. Such families face a myriad of needs in supporting children in their care. Previous research has established the significant challenges faced by rural families. Accurate assessment of these needs, particularly for rural families, is an essential component of kinship navigation services. In this study, we examined the face validity of the Family Needs Scale for use with kinship caregivers in rural programs. Methods: The evaluation teams with each respective kinship program conducted four virtual focus groups comprising kinship caregivers (n = 18) in three rural states. Participants were recruited from outside an ongoing Kinship Navigator Program Evaluation sample but had previously received program support as kinship caregivers. All states received IRB approval from their respective universities. Verbal consent was obtained at the time of the focus group. Focus groups lasted approximately 60–90 min and participants received a gift card incentive. Data were transcribed and qualitatively coded by question set and individual questions to identify phenomenological trends. Findings: Across four focus groups, we found four themes: (1) Broad agreement regarding the face validity of most assessment items; (2) Lack of clarity and shared understanding of several terms used within the tool, (3) Responses change with Ages and Stages of kinship family, and (4) Perspective considerations varying when completing the assessment. Discussion: Findings indicate that most assessment items had strong face validity, where there are a few opportunities to clarify key concepts relevant to rural kinship families and assess additional needs to understand the situational scope of the kinship experience. Overall, the needs assessment tool appears to have validity in assessing current kinship needs and outcomes within Kinship Navigator program evaluation. Full article

Gaps abound in the literature about what happens when people living with deafblindness or dual sensory impairment (DBDSI) go to the hospital. Anecdotally, from my lived experiences and professional work, as well as from within communities, stories are told about how hazardous it is to be a patient in an Australian hospital for those living with DBDSI. This paper outlines a quantitative component of a mixed-methods study examining the intricacies of these experiences. The research objective was to discover what hospital interactions looked like for patients living with DBDSI. A constrained question set was used, namely, the Australian hospital experience question set (AHPEQS 2017). It asked patients about key factors in their hospital interactions. The results form a distressing snapshot of care and communication interactions. Experiences of flouting protective conventions, dehumanisation, neglect, discrimination, disparate care, inaccessible consent forms, and a lack of communication predominate. The participants reported experiences from multiple different hospitals, so these findings suggest a broad culture of failing to provide patient-centred care and accessible-to-the-patient communication. The findings showcase the urgency for more research and remedial actions to be undertaken by both professionals and institutions. Full article

Autism spectrum disorder is a neurodevelopmental disorder that presents with repetitive behavior and weakness in social interaction. The nutritional problems experienced by children with autism aggravate the symptoms of autism, but also cause aggravation of the gastrointestinal system, an increase in hyperactivity disorders and sleep problems. This study was conducted to measure the effects of the nutritional status of children with autism on GIS symptoms, hyperactivity disorders and sleep problems. This study was conducted to measure the effects of the nutritional status of children with autism on GIS symptoms, hyperactivity disorders and sleep problems. The study was carried out with the families of children with autism at Kartal Umut Işığı Special Education and Rehabilitation Center. Within the scope of the study, a questionnaire consisting of four parts was given to the parents of 62 children with autism. The questionnaire included a voluntary consent form, personal information form, Conners Parent Rating Scale (CADS-48) and food frequency questionnaire. The parents completed these questionnaires in a face-to-face environment. The data obtained from the questionnaires were analyzed and presented with the SPSS 22 program. As a result of the study, it was found that different food groups can affect GI problems, hyperactivity disorders and sleep problems. It was found that the children who consumed dry broad beans did not have GIS complaints, and the children who consumed fast food experienced the problem of hyperactivity more regularly (p < 0.05). It was concluded that children who did not have GIS problems did not have sleep problems (p < 0.05). It was confirmed that simple carbohydrate consumption causes hyperactivity in children, but no significant results were found regarding GI problems and sleep disorders in the literature, and there are studies that overlap or contradict our study. More work is needed on this subject. Full article