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1.
Glob Chang Biol ; 30(4): e17271, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38613240

RESUMEN

Ecological and evolutionary theories have proposed that species traits should be important in mediating species responses to contemporary climate change; yet, empirical evidence has so far provided mixed evidence for the role of behavioral, life history, or ecological characteristics in facilitating or hindering species range shifts. As such, the utility of trait-based approaches to predict species redistribution under climate change has been called into question. We develop the perspective, supported by evidence, that trait variation, if used carefully can have high potential utility, but that past analyses have in many cases failed to identify an explanatory value for traits by not fully embracing the complexity of species range shifts. First, we discuss the relevant theory linking species traits to range shift processes at the leading (expansion) and trailing (contraction) edges of species distributions and highlight the need to clarify the mechanistic basis of trait-based approaches. Second, we provide a brief overview of range shift-trait studies and identify new opportunities for trait integration that consider range-specific processes and intraspecific variability. Third, we explore the circumstances under which environmental and biotic context dependencies are likely to affect our ability to identify the contribution of species traits to range shift processes. Finally, we propose that revealing the role of traits in shaping species redistribution may likely require accounting for methodological variation arising from the range shift estimation process as well as addressing existing functional, geographical, and phylogenetic biases. We provide a series of considerations for more effectively integrating traits as well as extrinsic and methodological factors into species redistribution research. Together, these analytical approaches promise stronger mechanistic and predictive understanding that can help society mitigate and adapt to the effects of climate change on biodiversity.


Asunto(s)
Biodiversidad , Cambio Climático , Filogenia , Geografía , Fenotipo
2.
Eur J Neurol ; 31(7): e16304, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38666798

RESUMEN

BACKGROUND AND PURPOSE: Logopenic variant primary progressive aphasia (lvPPA) is a major variant presentation of Alzheimer's disease (AD) that signals the importance of communication dysfunction across AD phenotypes. A clinical staging system is lacking for the evolution of AD-associated communication difficulties that could guide diagnosis and care planning. Our aim was to create a symptom-based staging scheme for lvPPA, identifying functional milestones relevant to the broader AD spectrum. METHODS: An international lvPPA caregiver cohort was surveyed on symptom development under an 'exploratory' survey (34 UK caregivers). Feedback from this survey informed the development of a 'consolidation' survey (27 UK, 10 Australian caregivers) in which caregivers were presented with six provisional clinical stages and feedback was analysed using a mixed-methods approach. RESULTS: Six clinical stages were endorsed. Early symptoms included word-finding difficulty, with loss of message comprehension and speech intelligibility signalling later-stage progression. Additionally, problems with hearing in noise, memory and route-finding were prominent early non-verbal symptoms. 'Milestone' symptoms were identified that anticipate daily-life functional transitions and care needs. CONCLUSIONS: This work introduces a new symptom-based staging scheme for lvPPA, and highlights milestone symptoms that could inform future clinical scales for anticipating and managing communication dysfunction across the AD spectrum.


Asunto(s)
Afasia Progresiva Primaria , Humanos , Afasia Progresiva Primaria/diagnóstico , Femenino , Masculino , Anciano , Persona de Mediana Edad , Progresión de la Enfermedad , Cuidadores/psicología , Estudios de Cohortes , Australia , Anciano de 80 o más Años , Índice de Severidad de la Enfermedad , Enfermedad de Alzheimer/diagnóstico , Enfermedad de Alzheimer/patología , Enfermedad de Alzheimer/complicaciones
3.
Neurourol Urodyn ; 43(5): 1230-1237, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38567649

RESUMEN

OBJECTIVE: Functional MRI (fMRI) can be employed to assess neuronal activity in the central nervous system. However, investigating the spinal cord using fMRI poses several technical difficulties. Enhancing the fMRI signal intensity in the spinal cord can improve the visualization and analysis of different neural pathways, particularly those involved in bladder function. The bulbocavernosus reflex (BCR) is an excellent method for evaluating the integrity of the sacral spinal cord. Instead of stimulating the glans penis or clitoris, the BCR can be simulated comfortably by tapping the suprapubic region. In this study, we explain the necessity and development of a device to elicit the simulated BCR (sBCR) via suprapubic tapping while conducting an fMRI scan. METHODS: The device was successfully tested on a group of 20 healthy individuals. Two stimulation task block protocols were administered (empty vs. full bladder). Each block consisted of 40 s of suprapubic tapping followed by 40 s of rest, and the entire sequence was repeated four times. RESULTS: Our device can reliably and consistently elicit sBCR noninvasively as demonstrated by electromyographic recording of pelvic muscles and anal winking. Participants did note mild to moderate discomfort and urge to void during the full bladder task. CONCLUSION: Our device demonstrates an efficacious approach to elicit sBCR within an MRI bore to assess sacral spinal cord functional activity without generating any significant motion artifacts. SIGNIFICANCE: This device can explore the mechanisms and processes controlling urinary, digestive, or sexual function within this region in humans.


Asunto(s)
Imagen por Resonancia Magnética , Reflejo , Médula Espinal , Humanos , Imagen por Resonancia Magnética/instrumentación , Masculino , Adulto , Femenino , Médula Espinal/fisiología , Médula Espinal/diagnóstico por imagen , Reflejo/fisiología , Vejiga Urinaria/fisiología , Vejiga Urinaria/diagnóstico por imagen , Electromiografía/instrumentación , Adulto Joven , Estimulación Física/instrumentación , Persona de Mediana Edad
4.
Int J Impot Res ; 2024 Jun 29.
Artículo en Inglés | MEDLINE | ID: mdl-38951639

RESUMEN

Traditionally, semen analysis has been viewed solely as a tool for assessing male fertility. However, emerging research suggests that abnormal semen parameters may serve as indicators of broader health issues beyond reproductive function. Studies have revealed significant associations between abnormal semen parameters and an increased risk of chronic diseases such as prostate cancer, diabetes, ischemic heart disease, and metabolic disorders. These findings challenge the conventional understanding and position semen analysis as a potential screening tool for overall male health. The correlation between abnormal semen parameters and conditions like erectile dysfunction further underscores the multifaceted implications of semen quality. This suggests that abnormal semen parameters may be a risk factor for poorer overall health and a higher likelihood of developing comorbidities over time. Given these compelling associations, there is a growing call to integrate semen analysis into routine health assessments for young men, particularly in conjunction with established general health screenings. This proactive approach aligns with a preventative healthcare paradigm, facilitating early detection of underlying health concerns and timely interventions. However, overcoming cultural, logistical, and cost-related barriers is crucial for the successful implementation of this shift in reproductive health.

5.
Front Rehabil Sci ; 5: 1286875, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38322700

RESUMEN

Background: When transitioning to adulthood, youth with disabilities and their families face many service gaps. Successful inter-agency collaborations can promote family-centred, inclusive transition support amenable to personal choice and health conditions. This paper reports the 3-year co-design process of an innovative transition service that links a pediatric hospital and adult service agencies and addresses key areas of transition preparedness with joint accountability. Methods: A team of pediatric rehabilitation professionals, adult service providers, young adults with disabilities and their families, and researchers engaged in a co-design process over three years. Following a design thinking (DT) framework, the team went through an iterative process of Empathize. Define, Ideation, Prototyping, and Testing phases. The trial-and-error process allowed for deeper reflection and an opportunity to pivot the design. Results: The co-design yielded Transitions Pop-ups, a nimble service model that can "pop up" at critical times and places to meet clients' urgent and emergent transition-related needs. Two pilot sessions were conducted at the testing phase with adult service agencies. The final model included five key elements: (1) community partnership; (2) targeted information sharing; (3) peer mentoring; (4) action (on-the-spot completion of a key transition task/activity such as submitting an adult funding application); and (5) warm handover. Conclusion: The co-design process highlighted the importance of open communication and iterative prototype testing as a means for trialing new ideas and clarifying the intent of the project. The DT framework optimally facilitated the co-development of a contextually relevant and sustainable service model for pediatric rehabilitation clients and families.

6.
Case Rep Genet ; 2024: 6319030, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38322183

RESUMEN

Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, reported in children presenting with a wide range of birth defects. We present a case of a female child born with multiple major congenital abnormalities including severe microcephaly, ocular dysgenesis, heart defect, and imperforate anus. Chromosomal microarray and mate pair sequencing identified a complex chromosomal rearrangement involving the terminal end of the long arm of chromosome 2, with two duplications (located at 2p25.3-p25.1 and 2q35-q37.2 regions) and two deletions (located at 2q37.2-q37.3 and 2q37.3 regions) along with structural changes including inverted segments. A review of the literature for complex rearrangements on chromosome 2 revealed overlapping features; however, our patient had a significantly more severe phenotype which resulted in early death at the age of 2 years. Breakpoints analysis did not reveal the involvement of any candidate genes. We concluded that the complexity of the genomic rearrangement and the combined dosage/structural effect of these copy number variants are likely explanations for the severe presentation in our patient.

7.
Environ Int ; 185: 108573, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38484609

RESUMEN

BACKGROUND: Air pollution is a global health concern, with fine particulate matter (PM2.5) constituents posing potential risks to human health, including children's neurodevelopment. Here we investigated associations between exposure during pregnancy and infancy to specific traffic-related PM2.5 components with Autism Spectrum Disorder (ASD) diagnosis. METHODS: For exposure assessment, we estimated PM2.5 components related to traffic exposure (Barium [Ba] as a marker of brake dust and Zinc [Zn] as a tire wear marker, Black Carbon [BC]) and oxidative stress potential (OSP) markers (Hydroxyl Radical [OPOH] formation, Dithiothreitol activity [OPDTT], reactive oxygen species [ROS]) modeled with land use regression with co-kriging based on an intensive air monitoring campaign. We assigned exposures to a cohort of 444,651 children born in Southern California between 2016 and 2019, among whom 11,466 ASD cases were diagnosed between 2018 and 2022, Odds ratios (ORs) and 95% confidence intervals (CIs) were obtained with logistic regression for single pollutant and PM2.5 mass co-adjusted models, also adjusting for sociodemographic characteristics. RESULTS: Among PM2.5 components, we found the strongest positive association with ASD for our brake wear marker Ba (ORper IQR = 1.29, 95 % CI: 1.24, 1.34). This was followed by an increased risk for all PM2.5 oxidative stress potential markers; the strongest association was with ROS formation (ORper IQR = 1.22, 95 % CI: 1.18, 1.25). PM2.5 mass was linked to ASD in Hispanic and Black children, but not White children, while traffic-related PM2.5 and OSP markers increased ASD risk across all groups. In neighborhoods with the lowest socioeconomic status (SES), associations with ASD were stronger for all examined pollutants compared to higher SES areas. CONCLUSIONS: Our findings suggest that brake wear-related PM2.5 and PM2.5 OSP are associated with ASD diagnosis in Southern California. These results suggest that strategies aimed at reducing the public health impacts of PM2.5 need to consider specific sources.


Asunto(s)
Contaminantes Atmosféricos , Contaminación del Aire , Trastorno del Espectro Autista , Niño , Embarazo , Femenino , Humanos , Contaminantes Atmosféricos/análisis , Trastorno del Espectro Autista/etiología , Trastorno del Espectro Autista/inducido químicamente , Especies Reactivas de Oxígeno , Contaminación del Aire/análisis , Material Particulado/análisis , Polvo , California/epidemiología , Metales , Estrés Oxidativo , Exposición a Riesgos Ambientales/efectos adversos , Exposición a Riesgos Ambientales/análisis
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