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Search Results (215)

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19 pages, 305 KiB  
Article
Gender Inequalities and Precarious Work–Life Balance in Italian Academia: Emergency Remote Work and Organizational Change During the COVID-19 Lockdown
by Annalisa Dordoni
Soc. Sci. 2025, 14(8), 471; https://doi.org/10.3390/socsci14080471 - 29 Jul 2025
Viewed by 294
Abstract
The COVID-19 pandemic has exposed and intensified structural tensions surrounding work−life balance, precarity, and gender inequalities in academia. This paper examines the spatial, temporal, and emotional disruptions experienced by early-career and precarious researchers in Italy during the first national lockdown (March–April 2020) and [...] Read more.
The COVID-19 pandemic has exposed and intensified structural tensions surrounding work−life balance, precarity, and gender inequalities in academia. This paper examines the spatial, temporal, and emotional disruptions experienced by early-career and precarious researchers in Italy during the first national lockdown (March–April 2020) and their engagement in remote academic work. Adopting an exploratory and qualitative approach, the study draws on ten narrative video interviews and thirty participant-generated images to investigate how structural dimensions—such as gender, class, caregiving responsibilities, and the organizational culture of the neoliberal university—shaped these lived experiences. The findings highlight the implosion of boundaries between paid work, care, family life, and personal space and how this disarticulation exacerbated existing inequalities, particularly for women and caregivers. By interpreting both visual and narrative data through a sociological lens on gender, work, and organizations, the paper contributes to current debates on the transformation of academic labor and the reshaping of temporal work regimes through the everyday use of digital technologies in contemporary neoliberal capitalism. It challenges the individualization of discourses on productivity and flexibility and calls for gender-sensitive, structurally informed policies that support equitable and sustainable transitions in work and family life, in line with European policy frameworks. Full article
16 pages, 493 KiB  
Article
Techno-Pessimistic Shock and the Banning of Mobile Phones in Secondary Schools: The Case of Madrid
by Joaquín Paredes-Labra, Isabel Solana-Domínguez, Marco Ramos-Ramiro and Ada Freitas-Cortina
Soc. Sci. 2025, 14(7), 441; https://doi.org/10.3390/socsci14070441 - 18 Jul 2025
Viewed by 705
Abstract
Over a three-year R&D project, the perception of mobile phone use in Spanish secondary schools shifted from initial tolerance to increasingly prohibitive policies. Drawing on the Actor–Network Theory, this study examines how mobile phones—alongside institutional discourses and school and family concerns—acted as dynamic [...] Read more.
Over a three-year R&D project, the perception of mobile phone use in Spanish secondary schools shifted from initial tolerance to increasingly prohibitive policies. Drawing on the Actor–Network Theory, this study examines how mobile phones—alongside institutional discourses and school and family concerns—acted as dynamic actants, shaping public and political responses. The research adopted a qualitative design combining policy and media document analysis, nine semi-structured interviews with key stakeholders, ten regional case studies, and twelve focus groups. The study concluded with a public multiplier event that engaged the broader educational community. The Madrid region, among the first to adopt a restrictive stance, contributed two school-based case studies and three focus groups with teachers, students, and families. Findings suggest that the turn toward prohibition was motivated less by pedagogical evidence than by cultural anxieties, consistent with what it conceptualizes as a techno-pessimistic shock. This shift mirrors the historical patterns of societal reaction to disruption and technological saturation. Rather than reinforcing binary framings of promotion versus prohibition, such moments invite critical reflection. The study argues for nuanced, evidence-based, and multilevel governance strategies to address the complex role of mobile technologies in education. Full article
(This article belongs to the Special Issue Educational Technology for a Multimodal Society)
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17 pages, 261 KiB  
Article
Living Through Two Storms”: A Narrative Enquiry of Older Adults’ Experiences with HIV/AIDS During the COVID-19 Pandemic in Nigeria
by Olufisayo O. Elugbadebo, Oluwagbemiga Oyinlola, Baiba Berzins, Bibilola Oladeji, Lisa M. Kuhns and Babafemi O. Taiwo
J. Ageing Longev. 2025, 5(3), 23; https://doi.org/10.3390/jal5030023 - 9 Jul 2025
Viewed by 334
Abstract
The COVID-19 pandemic has illuminated and intensified pre-existing structural vulnerabilities among older adults living with HIV/AIDS in sub-Saharan Africa, particularly Nigeria. Within already overstretched healthcare infrastructures, these individuals faced heightened economic precarity, disrupted HIV care, and pronounced psychosocial distress. Exploring their lived experiences [...] Read more.
The COVID-19 pandemic has illuminated and intensified pre-existing structural vulnerabilities among older adults living with HIV/AIDS in sub-Saharan Africa, particularly Nigeria. Within already overstretched healthcare infrastructures, these individuals faced heightened economic precarity, disrupted HIV care, and pronounced psychosocial distress. Exploring their lived experiences critically advances an understanding of resilience and informs contextually responsive interventions that can mitigate future health crises. This study employed a narrative qualitative approach to explore the lived experiences of older adults (aged 50 and above) attending the Infectious Diseases Institute (IDI) clinic in Ibadan, Nigeria, during the pandemic lockdown. Purposive sampling guided by maximum variation principles enabled the selection of 26 participants who provided detailed accounts through in-depth interviews. Reflective thematic analysis identified complex narratives illustrating intensified financial hardships, disrupted access to antiretroviral therapy (ART), and heightened psychological distress, including anxiety, depression, and profound isolation. Conversely, participants also articulated experiences of resilience, manifesting in improved medication adherence, strengthened family bonds, and introspective growth fostered by enforced isolation. These nuanced findings highlights the necessity of developing an adaptive, integrated healthcare interventions that addresses economic vulnerabilities, psychosocial wellbeing, and ART continuity, thereby better preparing resource-constrained health systems to support older adults with HIV/AIDS in future public health crises. Full article
20 pages, 1766 KiB  
Article
A Photovoice Study on the Lived Experiences of Youth and Mothers of Incarcerated Fathers and Husbands, Highlighting the Relevance of Abolitionist Social Work Practice
by Elizabeth K. Allen, Jason Ostrander and Kate Kelly
Soc. Sci. 2025, 14(7), 411; https://doi.org/10.3390/socsci14070411 - 29 Jun 2025
Viewed by 319
Abstract
This community-based participatory research (CBPR) study explored, using a Photovoice methodology, the lived expeiences of northeastern Black and/or African American youth and mothers who were currently experiencing the incarceration of their fathers and husbands. Grounded in critical theories of dual consciousness and comparative [...] Read more.
This community-based participatory research (CBPR) study explored, using a Photovoice methodology, the lived expeiences of northeastern Black and/or African American youth and mothers who were currently experiencing the incarceration of their fathers and husbands. Grounded in critical theories of dual consciousness and comparative conflict, the findings provide valuable insights into how this population navigates the intersections of family, school, and community within the context of the criminal legal system, and, in the process, underscore the relevance of Abolitionist practice in capturing their theoretically lived experiences. Participants documented through photography and narrative reflections the multifaceted impacts of incarceration on fathers and husbands, including disrupted family dynamics, social stigma, and barriers to community resources. A focus group with the mothers of these youth highlighted the profound impact of incarceration on their family structure, revealing significant emotional burdens for caregivers as well as personal changes to parenting styles as a result of this project. A central theme that emerged was the development of a “double” or “dual consciousness”—an ability to see humanity and injustice in their circumstances, fueling a desire for systemic change. Overall, this CBPR project amplifies the voices of marginalized youth and mothers, illuminating how the criminal legal system perpetuates cycles of trauma, stigma, and disempowerment. The implications call for a radical reimagining of the role of social work in creating more equitable, restorative, and healing-centered communities, including an immediate embrace of Abolitionist practice concepts and interventions. Full article
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24 pages, 1228 KiB  
Article
Rights-Based Priorities for Children with SEND in the Post-COVID-19 Era: A Multi-Method, Multi-Phased, Multi-Stakeholder Consensus Approach
by Emma Ashworth, Lucy Bray, Amel Alghrani, Seamus Byrne and Joanna Kirkby
Children 2025, 12(7), 827; https://doi.org/10.3390/children12070827 - 23 Jun 2025
Viewed by 310
Abstract
Background: The provision of education, health, and social care for children with special educational needs and disabilities (SEND) in England has long been criticised for its inequities and chronic underfunding. These systemic issues were further exacerbated by the onset of the COVID-19 pandemic [...] Read more.
Background: The provision of education, health, and social care for children with special educational needs and disabilities (SEND) in England has long been criticised for its inequities and chronic underfunding. These systemic issues were further exacerbated by the onset of the COVID-19 pandemic and the accompanying restrictions, which disrupted essential services and resulted in widespread unmet needs and infringements on the rights of many children with SEND. This study aimed to use a three-phase consensus-building approach with 1353 participants across five stakeholder groups to collaboratively develop evidence-informed priorities for policy and practice. The priorities sought to help address the longstanding disparities and respond to the intensified challenges brought about by the pandemic. Methods: A total of 55 children with SEND (aged 5–16), 893 parents/carers, and 307 professionals working in SEND-related services participated in the first phase through online surveys. This was followed by semi-structured interviews with four children and young people, ten parents/carers, and 15 professionals, allowing for deeper exploration of lived experiences and priorities. The data were analysed, synthesised, and structured into five overarching areas of priority. These were subsequently discussed and refined in a series of activity-based group workshops involving 20 children with SEND, 11 parents/carers, and 38 professionals. Results and Conclusions: The consensus-building process led to the identification of key priorities for both pandemic response and longer-term recovery, highlighting the responsibilities of central Government and statutory services to consider and meet the needs of children with SEND. These priorities are framed within a children’s rights context and considered against the rights and duties set out in the United Nations Convention on the Rights of the Child (1989). Priorities include protecting and promoting children with SEND’s rights to (1) play, socialise, and be part of a community, (2) receive support for their social and emotional wellbeing and mental health, (3) feel safe, belong, and learn in school, (4) “access health and social care services and therapies”, and (5) receive support for their parents/carers and families. Together, they highlight the urgent need for structural reform to ensure that children with SEND receive the support they are entitled to—not only in times of crisis but as a matter of routine practice and policy. Full article
(This article belongs to the Section Global Pediatric Health)
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15 pages, 214 KiB  
Article
Challenges and Adaptive Strategies in Transitional Care During COVID-19: A Qualitative Study of Nurses’ Experiences in Japan
by Yuka Sumikawa, Noriha Tanaka and Noriko Yamamoto-Mitani
Nurs. Rep. 2025, 15(6), 207; https://doi.org/10.3390/nursrep15060207 - 7 Jun 2025
Viewed by 507
Abstract
Background/Objectives: To examine shifts and challenges in transitional care practices during COVID-19 and the adaptive strategies developed by Transitional Care Nurses (TCNs) in response. Methods: A qualitative descriptive study was conducted using semi-structured interviews with 15 TCNs from acute care hospitals in [...] Read more.
Background/Objectives: To examine shifts and challenges in transitional care practices during COVID-19 and the adaptive strategies developed by Transitional Care Nurses (TCNs) in response. Methods: A qualitative descriptive study was conducted using semi-structured interviews with 15 TCNs from acute care hospitals in Japan. Data were collected from October 2021 to October 2022 and analyzed using qualitative thematic analysis. The study is reported in accordance with the Consolidated Criteria for Reporting Qualitative Research (COREQ) guidelines. Results: Three main themes emerged: (1) disrupted connections in transitional care with patients and families, among hospital staff, and with community services; (2) professional pressures in pandemic care, including the mental and physical burden on TCNs and navigating unexpected changes to transitional care plans; and (3) adaptive strategies through digital solutions and community partnerships. TCNs implemented hybrid approaches combining selective face-to-face interactions for complex procedures and strategic use of digital tools for routine communication. Conclusions: This study provides the first detailed examination of how TCNs in Japan adapted to transitional care during COVID-19. TCNs maintained essential care principles while implementing digital tools and strengthening community partnerships using hybrid approaches. These findings offer practical guidance for healthcare organizations to enhance transitional care practices during future healthcare crises. Full article
14 pages, 2171 KiB  
Brief Report
Pulsatile Myofilament Activity in Myotrem Myopathy Associated with Myogenic Tremor
by Jennifer Megan Mariano, Laurin M. Hanft, Suhan Cho, Christopher W. Ward, Kerry S. McDonald and Aikaterini Kontrogianni-Konstantopoulos
Int. J. Mol. Sci. 2025, 26(11), 5252; https://doi.org/10.3390/ijms26115252 - 30 May 2025
Viewed by 495
Abstract
Myosin-binding protein C (MyBP-C) comprises a family of myofilament proteins that maintain sarcomeric structure and regulate actomyosin crossbridge cycling. Pathogenic variants in MYBPC1, the gene encoding the slow skeletal isoform (sMyBP-C), lead to a dominant congenital myopathy, termed Myotrem, characterized by muscle [...] Read more.
Myosin-binding protein C (MyBP-C) comprises a family of myofilament proteins that maintain sarcomeric structure and regulate actomyosin crossbridge cycling. Pathogenic variants in MYBPC1, the gene encoding the slow skeletal isoform (sMyBP-C), lead to a dominant congenital myopathy, termed Myotrem, characterized by muscle weakness, hypotonia, and a distinctive tremor of myogenic origin, in the absence of neuropathy. However, the molecular mechanism(s) of myogenic tremorgenesis is largely unknown. One potential mechanism is aberrant myofilament stretch activation, which is defined as a delayed increase in force after a rapid stretch. We utilized the Myotrem murine model harboring the pathogenic MYBPC1 E248K variant to test the hypothesis that stretch activation is augmented in permeabilized Myotrem E248K soleus fibers. We found that stretch activation was significantly increased in E248K soleus muscle fibers. Interestingly, once submaximally Ca2+ activated, a subpopulation of slow-twitch E248K fibers exhibited spontaneous pulsatile sarcomere oscillations. This pulsing behavior generated a sinusoidal waveform pattern in sarcomere length, which often persisted on a timescale of minutes. These results align with sMyBP-C as key regulator of the synchronous activation of myofilaments by dampening both spontaneous oscillatory activity and stretch-dependent activation. We propose that the presence of sMyBP-C-E248K disrupts this regulation, thereby driving pathogenic myogenic tremors. Full article
(This article belongs to the Special Issue Sarcomeric Proteins in Health and Disease: 3rd Edition)
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18 pages, 9688 KiB  
Article
The Role of a Conserved Arg-Asp Pair in the Structure and Function of Tetanus Neurotoxin
by Elizabeth A. Wilson, Ashtyn N. Bevans and Michael R. Baldwin
Toxins 2025, 17(6), 273; https://doi.org/10.3390/toxins17060273 - 30 May 2025
Viewed by 1255
Abstract
Tetanus, a severe and life-threatening illness caused by Clostridium tetani, produces symptoms such as muscle spasms, muscle stiffness and seizures caused by the production of tetanus neurotoxin (TeNT). TeNT causes spastic paralysis through the inhibition of neurotransmission in spinal inhibitory interneurons. This [...] Read more.
Tetanus, a severe and life-threatening illness caused by Clostridium tetani, produces symptoms such as muscle spasms, muscle stiffness and seizures caused by the production of tetanus neurotoxin (TeNT). TeNT causes spastic paralysis through the inhibition of neurotransmission in spinal inhibitory interneurons. This is achieved, in part, through pH-triggered membrane insertion of the translocation (HCT) domain, which delivers the catalytic light-chain (LC) domain to the cytosol. While the function of HCT is well defined, the mechanism by which it accomplishes this task is largely unknown. Based on the crystal structure of tetanus neurotoxin, we identified potential polar interactions between arginine 711, tryptophan 715 and aspartate 821 that appear to be evolutionarily conserved across the clostridial neurotoxin family. We show that the disruption of the Asp-Arg pair in a beltless HCT variant (bHCT) results in changes in thermal stability without significant alterations to the overall secondary structure. ANS (1-anilino-8-napthalene sulfonate) binding studies, in conjunction with liposome permeabilization assays, demonstrate that mutations at R711 or D821 trigger interactions with the membrane at higher pH values compared to wildtype bHCT. Interestingly, we show that the introduction of the D821N mutation into LHNT (LC-HCT only), but not the holotoxin, resulted in the increased cleavage of VAMP 2 in cortical neurons relative to the wildtype protein. This suggests that, as observed for botulinum toxin A, the receptor-binding domain is not necessary for LC translocation but rather helps determine the pH threshold of membrane insertion. The mutation of W715 did not result in detectable changes in the activity of either bHCT or the holotoxin, suggesting that it plays only a minor role in stabilizing the structure of the toxin. We conclude that the protonation of D821 at low pH disrupts interactions with R711 and W715, helping to drive the conformational refolding of HCT needed for membrane insertion and the subsequent translocation of the LC. Full article
(This article belongs to the Section Bacterial Toxins)
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17 pages, 883 KiB  
Article
Experience of Implementing a Cross-Border Primary Care Cooperation Project During the COVID-19 Pandemic: A Qualitative Study
by Silvia Caristia, Erica Busca, Sara Campagna, Erika Bassi and Alberto Dal Molin
Nurs. Rep. 2025, 15(5), 178; https://doi.org/10.3390/nursrep15050178 - 20 May 2025
Viewed by 522
Abstract
Background/Objectives: The REACtion project was developed to provide nursing care to older adults at home within the primary care setting. The COVID-19 pandemic posed significant challenges to its implementation, acting both as a barrier and an opportunity. Although several studies have explored [...] Read more.
Background/Objectives: The REACtion project was developed to provide nursing care to older adults at home within the primary care setting. The COVID-19 pandemic posed significant challenges to its implementation, acting both as a barrier and an opportunity. Although several studies have explored healthcare innovation during emergencies, there remains a need for strategic insights to guide real-world implementation efforts. This study aims to explore how the COVID-19 pandemic influenced the implementation of the REACtion project and identify the strategies adopted to ensure continuity and effectiveness in achieving its goals despite the challenges posed by the health emergency. Methods: A qualitative descriptive study was conducted. Semi-structured interviews were carried out with nine project stakeholders, including nurses and researchers, between April and May 2023. The interviews were transcribed verbatim, read in-depth, and analyzed using content analysis to identify perceived barriers, facilitators, and strategies adopted during the project. Results: The pandemic shifted priorities from routine care to emergency health activities. Barriers to project implementation included social distancing, disruptions in the decision-making processes, and a general decline in community welfare. Despite these obstacles, the COVID-19 context underscored the central role of Family and Community Nurses in proactive primary care. Stakeholders adopted relationship-based strategies, addressed workforce shortages, and implemented measures to mitigate personal fatigue. Conclusions: The implementation of innovative nursing interventions during emergencies requires adaptability, collaboration, and context-sensitive approaches. Strengthening stakeholder engagement and leveraging professional roles within the community are essential to overcoming barriers and seizing opportunities in crisis contexts. Full article
(This article belongs to the Section Nursing Care for Older People)
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15 pages, 996 KiB  
Article
Multifaceted Crises and Family Disintegration in the Far North of Cameroon
by Gustave Gaye, Carola Tize and Lidewyde Berckmoes
Genealogy 2025, 9(2), 56; https://doi.org/10.3390/genealogy9020056 - 20 May 2025
Viewed by 1628
Abstract
This study analyzes displaced families’ disintegration amidst multifaceted crises in the Far North Region of Cameroon. The focus is on displaced families in four divisions where host communities along the border of Nigeria have fled Boko Haram, due to sociopolitical instability and environmental [...] Read more.
This study analyzes displaced families’ disintegration amidst multifaceted crises in the Far North Region of Cameroon. The focus is on displaced families in four divisions where host communities along the border of Nigeria have fled Boko Haram, due to sociopolitical instability and environmental degradation. Both quantitative and qualitative analyses show how insecurity and precarity have resulted in disintegrating, dispersing and sometimes recomposing the traditional structure of the family institution by disrupting marriage traditions, gender roles and intergenerational relations. Such shifts in the family occurred as a result of the challenging contexts in their hometowns, during flight and after settling in the host towns. The findings demonstrate the effects of the multifaceted crises, which created intergenerational, but also inter- and intra-community rifts that are challenging to repair amidst mass distrust and continued insecurity. This study contributes especially to understanding how these crises affect family cohesion and intergenerational relations as part of dynamics of great social change. Full article
(This article belongs to the Special Issue Family, Generation and Change in the Context of Crisis)
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16 pages, 551 KiB  
Article
Replanting the Birthing Trees: A Call to Transform Intergenerational Trauma into Cycles of Healing and Nurturing
by Catherine Chamberlain, Jacynta Krakouer, Paul Gray, Madeleine Lyon, Shakira Onwuka, Ee Pin Chang, Lesley Nelson, Valda Duffield, Janine Mohamed, Shaydeen Stocker, Yalmay Yunupingu, Sally Maymuru, Bronwyn Rossingh, Fiona Stanley, Danielle Cameron, Marilyn Metta, Tess M. Bright, Renna Gayde, Bridgette Kelly, Tatiana Corrales, Roz Walker, Tamara Lacroix, Helen Milroy, Alison Weatherstone, Kimberley A. Jones, Kristen Smith and Marcia Langtonadd Show full author list remove Hide full author list
Genealogy 2025, 9(2), 52; https://doi.org/10.3390/genealogy9020052 - 6 May 2025
Viewed by 2379
Abstract
Aboriginal and Torres Strait Islander ways of knowing, being and doing have fostered physical, social, and emotional wellbeing for millenia, forming a foundation of strength and resilience. However, colonisation, systemic violence and discrimination—including the forced removal of Aboriginal and Torres Strait Islander children, [...] Read more.
Aboriginal and Torres Strait Islander ways of knowing, being and doing have fostered physical, social, and emotional wellbeing for millenia, forming a foundation of strength and resilience. However, colonisation, systemic violence and discrimination—including the forced removal of Aboriginal and Torres Strait Islander children, which continues today—have disrupted this foundation, leading to compounding cycles of intergenerational and complex trauma. The enduring impact of intergenerational and complex trauma is exemplified in increasing proportions of Aboriginal and Torres Strait Islander children being removed from their families and involved in the child protection and youth justice system—which represents a national crisis. Despite this crisis, the national response remains insufficient. To address these urgent issues, over 200 predominantly Aboriginal and Torres Strait Islander stakeholders, participated in Gathering the Seeds Symposium, the inaugural meeting for the Replanting the Birthing Trees project held in Perth in April 2023. This meeting marked the beginning of a public dialogue aimed at Closing the Gap by advancing community-led strategies to break cycles of trauma and foster cycles of nurturing, recovery, and wellbeing for Aboriginal and Torres Strait Islander parents and children across the first 2000 days. We outline critical shortcomings in the current child protection and youth justice systems, and the urgent need for child wellbeing reform. Importantly we highlight recommendations made in submissions in 2023 to two key Australian inquiries—the National Early Years Strategy and the Human Rights Commission inquiry into out of home care and youth justice systems. We argue that structural reforms and culturally safe and skillful care for parents experiencing trauma and violence is a serious gap, and a national priority. The first 2000 days represents a critical window of opportunity to transform cycles of trauma into cycles of healing. It is time to ‘replant the birthing trees’ and ensure that all Aboriginal and Torres Strait Islander babies and families can have the best possible start to life through comprehensive models of care grounded in recognition of the right to self-determination and culture. Full article
(This article belongs to the Special Issue Self Determination in First Peoples Child Protection)
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18 pages, 4074 KiB  
Article
Comparison of the Structure, Physicochemical Properties, and Impact on Intestinal Flora of Processed and Unprocessed Polygonum multiflorum Starch
by Guiya Yang, Ying Wang, Yuying Hu, Yue Liu, Quan Li and Shuangcheng Ma
Foods 2025, 14(9), 1578; https://doi.org/10.3390/foods14091578 - 30 Apr 2025
Viewed by 583
Abstract
Polygonum multiflorum Thunb. (PM) is a starch-rich medicinal herb, but research on the changes in the structure and physical properties of the starch upon processing remains elusive. Herein, the structures and physicochemical properties, particularly the impact on intestinal flora of raw PM starch [...] Read more.
Polygonum multiflorum Thunb. (PM) is a starch-rich medicinal herb, but research on the changes in the structure and physical properties of the starch upon processing remains elusive. Herein, the structures and physicochemical properties, particularly the impact on intestinal flora of raw PM starch and processed Polygonum multiflorum (PMP) starch, were systematically characterized and compared. XRD and FT-IR results showed that the crystalline structure of PMP starch was disrupted, with the increase in its short-range ordering. Morphological analysis revealed that the size of PMP starch granules increased with the appearance of aggregation. Significant differences in swelling power and solubility were observed, wherein PM starch has a higher swelling power, while its solubility is lower than that of PMP starch. The PM starch also has higher thermal stability. Interestingly, the resistant starch (RS) content in PMP starch was higher, as shown by the in vitro digestibility tests, which is associated with enhanced bioactivity. Moreover, gut microbiota analysis in mice indicated that PMP starch promoted gut health by regulating specific bacterial families. Our current study has offered full insights into the changes of PM starch upon processing, laying a solid foundation for further developing PM starch-derived functional food products. Full article
(This article belongs to the Section Food Physics and (Bio)Chemistry)
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7 pages, 860 KiB  
Case Report
Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study
by Roberto Sirica, Alessandro Ottaiano, Daniele De Brasi, Simone Marcella, Fabio Acquaviva, Monica Ianniello, Nadia Petrillo, Valentina De Angelis, Raffaella Ruggiero, Rossana D’Angelo, Eloisa Evangelista, Antonio Fico and Giovanni Savarese
Genes 2025, 16(5), 519; https://doi.org/10.3390/genes16050519 - 29 Apr 2025
Viewed by 602
Abstract
Background: Ectodermal dysplasia (ED) encompasses a heterogeneous group of genetic disorders affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands. Among these, variants in TSPEAR (Thrombospondin-type laminin G domain and epilepsy-associated repeats) have been implicated in autosomal recessive ED type 14 [...] Read more.
Background: Ectodermal dysplasia (ED) encompasses a heterogeneous group of genetic disorders affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands. Among these, variants in TSPEAR (Thrombospondin-type laminin G domain and epilepsy-associated repeats) have been implicated in autosomal recessive ED type 14 (OMIM 618180), predominantly manifesting with dental anomalies and hair dysplasia. However, the mutational spectrum of TSPEAR remains incompletely characterized. Methods: Two female siblings (ID#1 and ID#4) were clinically evaluated for ED. Genetic analysis, including next-generation sequencing (NGS) and Sanger validation, was conducted to identify TSPEAR variants. A segregation study confirmed inheritance patterns within the family. Results: Both affected siblings exhibited hallmark features of TSPEAR-related ED14, including oligodontia with dysmorphic, pointed maxillary central incisors. Hair thinning and cutaneous angiomas were predominant in ID#4. Genetic analysis identified two compound heterozygous variants in TSPEAR: c.543-1G>A, a splice-site variant likely to disrupt mRNA processing, and NM_144991.2:c.1251G>C(p.Gln417His), a missense variant with predicted deleterious effects. Segregation analysis confirmed maternal and paternal inheritance of the respective variants. A third sibling, ID#5, was identified as a heterozygous carrier without clinical manifestations. Conclusions: This study contributes to the expanding understanding of TSPEAR-related ED14 by providing novel genotype–phenotype correlations. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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24 pages, 1421 KiB  
Review
Mitochondrial Dysfunction: A New Hallmark in Hereditable Thoracic Aortic Aneurysm Development
by Daniel Marcos-Ríos, Antonio Rochano-Ortiz, Irene San Sebastián-Jaraba, María José Fernández-Gómez, Nerea Méndez-Barbero and Jorge Oller
Cells 2025, 14(8), 618; https://doi.org/10.3390/cells14080618 - 21 Apr 2025
Cited by 2 | Viewed by 1129
Abstract
Thoracic aortic aneurysms (TAAs) pose a significant health burden due to their asymptomatic progression, often culminating in life-threatening aortic rupture, and due to the lack of effective pharmacological treatments. Risk factors include elevated hemodynamic stress on the ascending aorta, frequently associated with hypertension [...] Read more.
Thoracic aortic aneurysms (TAAs) pose a significant health burden due to their asymptomatic progression, often culminating in life-threatening aortic rupture, and due to the lack of effective pharmacological treatments. Risk factors include elevated hemodynamic stress on the ascending aorta, frequently associated with hypertension and hereditary genetic mutations. Among the hereditary causes, Marfan syndrome is the most prevalent, characterized as a connective tissue disorder driven by FBN1 mutations that lead to life-threatening thoracic aortic ruptures. Similarly, mutations affecting the TGF-β pathway underlie Loeys–Dietz syndrome, while mutations in genes encoding extracellular or contractile apparatus proteins, such as ACTA2, are linked to non-syndromic familial TAA. Despite differences in genetic origin, these hereditary conditions share central pathophysiological features, including aortic medial degeneration, smooth muscle cell dysfunction, and extracellular remodeling, which collectively weaken the aortic wall. Recent evidence highlights mitochondrial dysfunction as a crucial contributor to aneurysm formation in Marfan syndrome. Disruption of the extracellular matrix–mitochondrial homeostasis axis exacerbates aortic wall remodeling, further promoting aneurysm development. Beyond its structural role in maintaining vascular integrity, the ECM plays a pivotal role in supporting mitochondrial function. This intricate relationship between extracellular matrix integrity and mitochondrial homeostasis reveals a novel dimension of TAA pathophysiology, extending beyond established paradigms of extracellular matrix remodeling and smooth muscle cell dysfunction. This review summarizes mitochondrial dysfunction as a potential unifying mechanism in hereditary TAA and explores how understanding mitochondrial dysfunction, in conjunction with established mechanisms of TAA pathogenesis, opens new avenues for developing targeted treatments to address these life-threatening conditions. Mitochondrial boosters could represent a new clinical opportunity for patients with hereditary TAA. Full article
(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Marfan Syndrome)
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17 pages, 1788 KiB  
Article
Effects of Long-Term Airport Noise Exposure on Inflammation and Intestinal Flora and Their Metabolites in Mice
by Jian Yang, Longwei Wei, Yuan Xia, Junyi Wang, Yan Bai and Yun Xia
Metabolites 2025, 15(4), 251; https://doi.org/10.3390/metabo15040251 - 5 Apr 2025
Viewed by 691
Abstract
Background: The World Health Organization has indicated that airport noise is strongly associated with cardiovascular disease, with vascular inflammation identified as the primary mechanism. Therefore, long-term exposure to airport noise is considered far more harmful than other types of noise. However, there [...] Read more.
Background: The World Health Organization has indicated that airport noise is strongly associated with cardiovascular disease, with vascular inflammation identified as the primary mechanism. Therefore, long-term exposure to airport noise is considered far more harmful than other types of noise. However, there remains a lack of research into the mechanisms underlying long-term exposure to airport noise and harm to the human body. Methods: A mouse model was established and exposed to airport noise at a maximum sound pressure level of 95 dB(A) and an equivalent continuous sound pressure level of 72 dB(A) for 12 h per day over a period of 100 days. Quantitative polymerase chain reaction (qPCR) was used to detect the mRNA expression levels of pro-inflammatory and anti-inflammatory factors. Enzyme-linked immunosorbent assay (ELISA) was used to detect LPS, LTA, TMA, and TMAO levels. Intestinal flora composition was analyzed by 16S rDNA sequencing, and targeted metabolomics was employed to determine the levels of serum short-chain fatty acids. Results: Long-term airport noise exposure significantly increased systolic blood pressure, diastolic blood pressure, and mean blood pressure (p < 0.05); significantly increased the mRNA expression levels of oxidative stress parameters (nuclear matrix protein 2, 3-nitrotyrosine, and monocyte chemoattractant protein-1) (p < 0.05); significantly increased pro-inflammatory factors (interleukin 6 and tumor necrosis factor alpha) (p < 0.05); significantly decreased the mRNA expression level of anti-inflammatory factor interleukin 10 (p < 0.05); and significantly increased the content of LPS and LTA (p < 0.05). The composition of the main flora in the intestinal tract was structurally disordered, and there were significant differences between the noise-exposed and control groups at the levels of the phylum, family, and genus of bacteria. β-diversity of the principal component analysis diagrams was clearly distinguished. Compared with those of the control group, TMA-producing bacteria and levels of TMA and TMAO were significantly reduced, and the serum ethanoic acid and propanoic acid levels of the noise-exposed group were significantly decreased (p < 0.05). Conclusions: Long-term airport noise exposure causes significant elevation of blood pressure and structural disruption in the composition of the intestinal flora in mice, leading to elevated levels of oxidative stress and inflammation, resulting in metabolic disorders that lead to significant changes in the production of metabolites. Full article
(This article belongs to the Special Issue Environmental Metabolites Insights into Health and Disease)
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