Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.639
Filtrar
Más filtros

Intervalo de año de publicación
1.
J Adv Nurs ; 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39352098

RESUMEN

AIM: To explore the role of public health nurses (PHNs) in Norwegian primary school health services in supporting siblings who have a brother or a sister with complex care needs. DESIGN: A qualitative, exploratory design using focus groups combined with visual methods. METHODS: Nineteen Norwegian PHNs participated in three focus group discussions between May and September 2022. The nurses were asked to draw themselves as PHNs working in primary schools. Braun and Clarke's reflexive thematic approach was used to analyse the transcribed interviews. The drawings were analysed using critical visual analysis methodology. RESULTS: The findings revealed that PHNs in primary schools focused on establishing good relationships and found it important to be flexible and creative. However, a challenge to successful service provision in supporting siblings and their families was that the nurses lacked support for the implementation of health promotion interventions and often felt alone. The analysis elicited three main themes: 'the importance of relationships and flexibility in meeting siblings' needs', 'feeling alone with responsibility for supporting siblings' and 'the forgotten children: a need for coordinated services'. CONCLUSION: PHNs in school health services are in a unique position to provide support to improve siblings' mental health and well-being. To fully benefit from PHNs' potential to support siblings, there is a need to clarify guidelines and develop evidence-based interventions. IMPACT: This study provides valuable insights for health authorities, educators and practitioners on what inhibits sibling support in Norway. The study highlights the potential for PHNs to play a significant role in delivering timely health-promoting interventions for these siblings in school settings independent of context. REPORTING METHOD: This study was reported in accordance with the Consolidated Criteria for Reporting Qualitative Research (COREQ). PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.

2.
Breed Sci ; 74(2): 93-102, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-39355622

RESUMEN

Salt tolerance has been an important issue as a solution for soil salinization and groundwater depletion. To challenge this issue, genetic diversity of wild plants must be harnessed. Here we report a discovery of a candidate gene for salt tolerance in Vigna nakashimae, one of the coastal species in the genus Vigna. Using intraspecific variation, we performed a forward genetic analysis and identified a strong QTL region harboring ~200 genes. To further narrow down the candidate genes, we performed a comparative transcriptome analysis, using the genome sequence of azuki bean (V. angularis) as a reference. However the detected differentially-expressed genes (DEGs) did not include those related to salt tolerance. As we suspected that the target gene in V. nakashimae is missing in V. angularis, we sequenced the whole genome sequence of V. nakashimae with long-reads. By re-analyzing the transcriptome data with the new reference genome, we successfully identified POCO1 as a candidate gene, which was missing not only in V. angularis but also in the salt-sensitive accession of V. nakashimae. Further comparative analysis revealed that the tolerant genotypes conserved the ancestral form of the locus, while the sensitive genotypes did not. We also emphasize the pitfalls in our study, such as position effect in a growth chamber, missing important genes in the reference genome, and limited reproducibility of RNA-seq experiments.

3.
Health Policy ; 150: 105174, 2024 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-39378716

RESUMEN

BACKGROUND: Voluntary stopping of eating and drinking (VSED) is a way to end one's life prematurely. We synthesized the empirical data on VSED. METHODS: In this systematic mixed-methods review, we searched MEDLINE, CINAHL, PsycINFO, Google Scholar, and BELIT for English and German articles published between January 1, 2013 and November 12, 2021. We included quantitative and qualitative research examining the experiences, attitudes, and knowledge of people confronted with VSED. We inductively analyzed the data after quantitative data transformation. We assessed quality and confidence using the Mixed-Methods Appraisal Tool and GRADE-CERQual approach, respectively. This study was registered in PROSPERO (CRD42022283743). FINDINGS: We identified 22 eligible articles, comprising 16 studies. The participants were healthcare professionals and relatives, but not individuals undertaking VSED. We present here our findings on the challenges of accompanying VSED, positive experiences with VSED, and the identified needs. Support during VSED is needed at multiple levels (medical care, family relief, course planning), and the willingness to accompany VSED is very high among healthcare professionals. However, there are several problems, the most obvious being the lack of knowledge and expertise regarding VSED, placing a great burden on families and professionals. The confidence in the review findings ranged from moderate to low. INTERPRETATION: Evidence-based guidance, in-depth knowledge, and training of healthcare professionals can greatly reduce the burden and fear among individuals accompanying VSED.

4.
J Adv Nurs ; 2024 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-39253765

RESUMEN

BACKGROUND: Scientific research has consistently emphasised the high levels of stress encountered by family caregivers of individuals living with dementia. However, conventional self-help approaches remain underutilised. The 'Diversity-On' study addresses this issue. The study employs a storytelling approach to develop and evaluate an online self-help program that is participatory and diversity-sensitive, thereby ensuring congruence with diverse identities and lifeworlds. METHODS: The study uses a mixed-methods design, comprising the allocation and implementation of the intervention, the development of stories, a process evaluation (N = 20) and an outcome evaluation (quantitative: N = 130, qualitative: N = 20). The study's primary focus is its comprehensive participatory approach, integrated throughout the research process. The study is dependent on the input of a number of stakeholders, all of whom are committed to advocating for the concerns of patients. DISCUSSION: Given its participatory methodology and intersectional perspective, the 'Diversity-On' study is anticipated to yield a number of significant outcomes. The study has the potential to empower family caregivers of individuals living with dementia who are under high stress, empowering them to take part in self-help groups despite multiple barriers, thus alleviating their burden. Additionally, it has the capacity to promote the well-being of caregiving relatives who are providing care and are experiencing high levels of stress. The study's objective is to maintain home care arrangements for as long as possible, in accordance with the values and preferences of care recipients and their families. The study intends to develop and assess a customised online self-help resource that is suitable for a diverse range of users and that remains accessible beyond the study period. TRIAL REGISTRATION: The project is subsequently registered in ClinicalTrials.gov.

5.
Psychiatry Res Neuroimaging ; 344: 111884, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39236485

RESUMEN

Obsessive-compulsive disorder (OCD) is characterized by structural alteration within white matter tissues of cortico-striato-thalamo-cortical, temporal and occipital circuits. However, the presence of microstructural changes in the white matter tracts of unaffected first-degree relatives of patients with OCD as a vulnerability marker remains unclear. Therefore, here, diffusion-tensor magnetic resonance imaging (DTI) data were obtained from 29 first-degree relatives of patients with OCD and 59 healthy controls. We investigated the group differences in FA using whole-brain analysis (DTI analysis). For additional regions of interest (ROI) analysis, we focused on the posterior thalamic radiation and sagittal stratum, shown in recent meta-analysis of patients with OCD. In both whole-brain and ROI analyses, using a strict statistical threshold (family-wise error rate [FWE] corrected p<.05 for whole-brain analyses, and p<.0125 (0.05/4) with Bonferroni correction for ROI analyses), we found no significant group differences in FA. Subtle reductions were observed in the anterior corona radiata, forceps minor, cingulum bundle, and corpus callosum only when a lenient statistical was applied (FWE corrected p<.20). These findings suggest that alterations in the white matter microstructure of first-degree relatives, as potential vulnerability markers for OCD, are likely subtle.


Asunto(s)
Imagen de Difusión Tensora , Familia , Trastorno Obsesivo Compulsivo , Sustancia Blanca , Humanos , Trastorno Obsesivo Compulsivo/diagnóstico por imagen , Trastorno Obsesivo Compulsivo/patología , Trastorno Obsesivo Compulsivo/genética , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología , Masculino , Adulto , Femenino , Imagen de Difusión Tensora/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Persona de Mediana Edad , Adulto Joven
6.
Healthcare (Basel) ; 12(17)2024 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-39273788

RESUMEN

The COVID-19 pandemic significantly interrupted the grieving experiences of bereaved families and drastically changed their ways of dealing with loss. Our study aims to gain an in-depth understanding of the experience of bereaved relatives of patients who died in palliative care units during the COVID-19 pandemic. The phenomenological research design included sixteen family members of hospitalized palliative patients who died from November 2021 to June 2022. The study involved conducting qualitative in-depth semi-structured interviews with family members 12-24 months after the death of their loved ones. The interviews aimed to gather information about the experiences of the families both before and after the death. The COREQ guidelines were applied in the study. Participants were mainly female (n = 13) with a mean age of 47.25 (SD = 12.58). Data were analysed using the Interpretative Phenomenology Analysis (IPA). The following three categories were identified: (1) navigating loved ones' final weeks and days (troubled deaths); (2) the last farewell was robbed; (3) looking for adjustment after loss. One overall main theme emerged, which was as follows: "Struggling between stolen moments and painful losses to get back into the flow of life". This study provides novel insights into end-of-life care and bereavement from the perspectives of family. Our findings suggest that developing and promoting family-centred culture can lead to compassionate palliative care focused on a myriad ways of affirming that their loved one matters.

7.
BMC Med Ethics ; 25(1): 98, 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39300454

RESUMEN

BACKGROUND: Physician-assisted suicide (PAS) and voluntary euthanasia remain highly debated topics in society, drawing attention due to their ethical, legal, and emotional complexities. Within this debate, the loss of a loved one through suicide may shape the attitudes of survivors, resulting in more or less favorable attitudes towards this topic. AIMS: This study aims to explore and compare the attitudes towards PAS and voluntary euthanasia in a population of suicide loss survivors and the general population, while also considering socio-demographic factors. METHODS: A total of 529 participants, 168 of whom were survivors of suicide loss, completed an online questionnaire on their attitudes (NOBAS) and opinions (open response format) towards PAS and voluntary euthanasia, as well as regarding their legalization in Germany. The analysis consisted of both quantitative and qualitative components. RESULTS: The entire sample showed positive attitudes towards PAS and voluntary euthanasia in terminally ill persons. Participants were more divided in their attitudes towards PAS in the case of a mental health disorder. Individuals without experienced suicide loss were more liberal regarding legalization in Germany and were more likely to understand the wish for PAS. Survivors of suicide loss were mainly concerned about the consequences for relatives. However, differences between both groups are small. DISCUSSION: The experience of a loss by suicide influences attitudes towards PAS and voluntary euthanasia. Both groups showed an accepting attitude towards PAS and voluntary euthanasia, but also expressed concerns and fears regarding easy accessibility and consequences for grieving relatives.


Asunto(s)
Suicidio Asistido , Sobrevivientes , Humanos , Alemania , Suicidio Asistido/ética , Suicidio Asistido/psicología , Masculino , Femenino , Persona de Mediana Edad , Adulto , Sobrevivientes/psicología , Encuestas y Cuestionarios , Anciano , Eutanasia Activa Voluntaria/ética , Eutanasia Activa Voluntaria/psicología , Actitud Frente a la Muerte , Adulto Joven , Suicidio/psicología
8.
Cancer ; 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39246024

RESUMEN

BACKGROUND: The psychological and cardiovascular health impacts on family members of patients who have been diagnosed with cancer have not been well characterized. The purpose of this study is to determine whether a family member's cancer diagnosis influences the risk of psychological illness and cardiovascular disease in first-degree relatives and spouses of patients affected by cancer. METHODS: This retrospective cohort analysis evaluated the risk of psychological illness and cardiovascular disease in first-degree relatives and spouses of patients diagnosed with a genitourinary cancer between 1990 and 2015 compared to relatives of those not diagnosed with a genitourinary cancer. The Utah Population Database was used and familial linkage was determined. Follow-up included 1-, 3-, and 5-year intervals. Patients residing outside of Utah and first-degree relatives and spouses with psychological or cardiovascular disease diagnosed before a family member's cancer diagnosis were excluded. RESULTS: A total of 49,284 patients with a genitourinary cancer were identified with 77,938 first-degree relatives and spouses. A matched control group included 246,775 patients with 81,022 first-degree relatives and spouses. Via Cox proportional hazards models, a 10% increased risk of developing a psychological illness (hazard ratio [HR], 1.10; 95% CI, 1.00-1.20) and a 28% increased risk of developing cardiovascular disease (HR, 1.28; 95% CI, 1.17-1.41) at 1 year after a family member's cancer diagnosis were found. CONCLUSIONS: This study provides population-level evidence to support the hypothesis that cancer diagnoses will lead to adverse health outcomes for family members of patients with cancer. Increased clinical attention and support are needed to reduce the harm to families caused by cancer.

9.
J Med Screen ; : 9691413241278224, 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39248023

RESUMEN

OBJECTIVE: The psychological consequences of being aware of an increased risk of developing abdominal aortic aneurysm as a first-degree relative of a person with abdominal aortic aneurysm are hitherto unexplored. This study investigates the awareness of heritability and anxiety in male and female adult offspring of abdominal aortic aneurysm patients compared to controls. Health-related quality of life among participants with aortic pathology was compared to participants with normal aortic diameters. METHODS: This was a cross-sectional point prevalence study based on the participants examined in the Detecting Abdominal Aortic Aneurysm in First Degree Relatives Trial (DAAAD; 752 adult offspring, 756 matched controls), 2020-2022. Questionnaires about health-related quality of life and study-specific questions regarding awareness of heritability were collected prior to the aortic ultrasound. RESULTS: Attendance rate was higher among individuals with heredity compared to controls (67% vs. 52%, p < 0.001). Of 1508 adult offspring examined, 65% reported having a close relative with abdominal aortic aneurysm (6% in controls). Female adult offspring reported higher awareness of heritability than controls (38% vs. 12%, p < 0.001), as did males (32% vs. 8%, p < 0.001). A slight majority of participants with awareness reported anxiety (54% of female offspring; 51% of male). There were no measured differences in health-related quality of life between the groups when standard health-related quality of life instruments were used. CONCLUSION: The higher-than-expected proportion of adult offspring with awareness of heritability and anxiety about such risk indicates that we fail to communicate risk to this group appropriately via the current channels of information within the healthcare system. This calls for the development of dedicated strategies for improved communication of abdominal aortic aneurysm risk to patients and their next of kin.

10.
Ophthalmologie ; 2024 Sep 23.
Artículo en Alemán | MEDLINE | ID: mdl-39311891

RESUMEN

Corneal donation counselling is an important part of the process to inform and support potential donors and their relatives. In this article various aspects of the conversation techniques on corneal donation are discussed, including raising awareness of the importance of donation, clarifying questions and concerns, emphasizing the potential of donation and considering the emotional burden on the relatives of potential donors. Also emphasized is the role of the counsellor as a trustworthy and empathetic contact who can help family members of potential donors make an informed and positive decision. It is pointed out that a professional and empathetic approach to corneal donation can help to increase the willingness to donate and ultimately that a donation can help visually impaired or blind people regain their sight and quality of life through donation.

11.
Plants (Basel) ; 13(18)2024 Sep 18.
Artículo en Inglés | MEDLINE | ID: mdl-39339580

RESUMEN

Durum wheat (DW) is one of the major crops grown in the Mediterranean area, a climate-vulnerable region where the increase in day/night (d/n) temperature is severely threatening DW yield stability. In order to improve DW heat tolerance, the introgression of chromosomal segments derived from the wild gene pool is a promising strategy. Here, four DW-Thinopyrum spp. near-isogenic recombinant lines (NIRLs) were assessed for their physiological response and productive performance after intense heat stress (IH, 37/27 °C d/n) had been applied for 3 days at anthesis. The NIRLs included two primary types (R5, R112), carriers (+) of a differently sized Th. ponticum 7el1L segment on the DW 7AL arm, and two corresponding secondary types (R69-9/R5, R69-9/R112), possessing a Th. elongatum 7EL segment distally inserted into the 7el1L ones. Their response to the IH stress was compared to that of corresponding non-carrier sib lines (-) and the heat-tolerant cv. Margherita. Overall, the R112+, R69-9/R5+ and R69-9/R112+ NIRLs exhibited a tolerant behaviour towards the applied stress, standing out for the maintenance of leaf relative water content but also for the accumulation of proline and soluble sugars in the flag leaf and the preservation of photosynthetic efficiency. As a result, all the above three NIRLs (R112+ > R69-9/R5+ > R69-9/R112+) displayed good yield stability under the IH, also in comparison with cv. Margherita. R112+ particularly relied on the strength of spike fertility/grain number traits, while R69-9/R5+ benefited from efficient compensation by the grain weight increase. This work largely confirmed and further substantiated the value of exploiting the wild germplasm of Thinopyrum species as a useful source for the improvement of DW tolerance to even extreme abiotic stress conditions, such as the severe heat treatment throughout day- and night-time applied here.

12.
Soc Sci Med ; 359: 117278, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39293350

RESUMEN

An extensive body of evidence shows the impact of being the direct victim of a serious assault. However, much less is known about the impact on the family and close relatives of victims, who may be considered indirect victims. Based on analyses of the 2014 Adult Psychiatric Morbidity Survey, a face-to-face, cross-sectional probability-sample survey of 7519 adults aged 16 and over in England, this article estimates what proportion of the population was closely related to a victim of serious assault, and whether this experience was associated with a higher prevalence of feeling unsafe, depression and anxiety disorder, post-traumatic stress, self-harm, and suicidality. Descriptive and multivariable regression analyses were conducted, adjusting for complex survey design and potentially confounding factors. Results show that one in twenty adults (4.5%, n = 345) was closely related to a victim of serious assault (95% confidence interval (CI):4.0-5.2%). Close adult relatives of assault victims were more likely than the rest of the population to have been direct victims of violence and abuse themselves, to have experienced multiple other adversities, and to live in more deprived neighbourhoods. However, even when controlling for these experiences, relatives of victims had adjusted odds of feeling unsafe in the neighbourhood where they lived 2.36 times higher than the rest of the population (CI:1.26-4.44), and their odds of having a depressive or anxiety disorder were 1.37 times higher (0.99-1.90). These analyses indicate that relatives in England may already be vulnerable, with potential to also be further affected by the experiences of family members. To more fully account for the effects of violence in society, research with indirect victims of serious violence in the context of their own experiences of direct victimization and wider adversities is required. This could be factored into a broader remit for victim support services which includes support for victims' families.


Asunto(s)
Víctimas de Crimen , Familia , Violencia , Humanos , Inglaterra/epidemiología , Adulto , Masculino , Femenino , Estudios Transversales , Persona de Mediana Edad , Víctimas de Crimen/psicología , Víctimas de Crimen/estadística & datos numéricos , Adolescente , Violencia/estadística & datos numéricos , Violencia/psicología , Familia/psicología , Anciano , Adulto Joven , Trastornos por Estrés Postraumático/epidemiología , Trastornos por Estrés Postraumático/psicología , Trastornos por Estrés Postraumático/etiología , Salud Mental/estadística & datos numéricos , Encuestas y Cuestionarios
13.
Diabetol Int ; 15(3): 550-561, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39101166

RESUMEN

Objective: Hypoglycemia constitutes a communication barrier between youth with type 1 diabetes, their family members and health professionals. A narrative tool may contribute to a more effective communication. Methods: Semi-structured interviews with six open-ended questions using narrative techniques collect and analyze (thematic and comparative analysis) different ways of "naming" the lived experience of hypoglycemia. Results: 103 participants, 40 with type 1 Diabetes aged 10-18 years (17 female), 63 relatives (40 female). Group 1 (G1), 10-14 years old (n = 21), Group 2 (G2), 15-18 years old (n = 19), Group 3 (G3) relatives, 30-59 years old. G3 was divided, G3.1: female (n = 42) and G3.2: male (n = 21).G1 and G2 presents greater attention to symptoms. G1 refers a greater need for help, G2 emphasizes autonomy. G2 and G3 describes better the medical protocol. G1 and G2 refer more topics such as "discomfort", "frustration", "obligation", "difficulty in verbalizing", G3 refers to "gilt", "fear" and "responsibility". G3.1 refer more "symptoms", "responsibility", "fault", "incapacity". Conclusions: A narrative tool enhances the singularity of a common experience, proving itself useful to adolescents, relatives, and healthcare professionals. Practice implications: In addition to gathering information that is usually acquired empirically, a narrative tool exposes knowledge gaps and may allow implementing intervention strategies.

15.
J Prev (2022) ; 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39210227

RESUMEN

This study aims to assess and compare the prevalence of chronic diseases by the first-degree Family Medical History (FMH) and also explores the relationship between FMH and selected Non-communicable diseases (NCDs) among older adults in India. The present study collated secondary data from the Longitudinal Ageing Study in India (LASI, 2017-18). The eligible respondents for the analysis of this study were aged 45 years and above, where the final study sample consisted of 65,562 older adults across all Indian states and union territories. The LASI dataset collected responses on self-reported diseases: Hypertension, Stroke, Heart disease, Cancer, and Diabetes. These diseases have a high prevalence among the population and are considered in the present study. Along with disease status, respondents' first-degree relatives FMH were used to fulfil the objective. Descriptive statistical analysis and multiple logistic regression techniques were used to accomplish the objectives analysis. This approach was chosen due to the binary nature of our primary dependent variables. The study found that the prevalence of selected NCDs was considerably higher among older adults with FMH than those without FMH. It revealed that NCDs and the status of FMH of parents and siblings were significantly associated. Based on the multivariate-adjusted model, we found significantly higher odds for developing the NCDs when the respondents have FMH among at least one of the first-degree relative. The likelihood among those with FMH of having hypertension (AOR: 2.058), diabetes (AOR: 2.94), heart diseases (AOR: 2.39), stroke (AOR: 1.62) and cancer (AOR: 2.32) was higher compared to no FMH of respective diseases. Similarly, significant associations were observed according to the different stratification of the number of first-degree relatives FMH. The present study demonstrated that first-degree relatives FMH is indeed a dominant associated risk factor for chronic disease among the older adults of India. This study supports the promotion of a disease history tool for chronic disease prevention and early detection approaches as a valuable measure of NCD risk. Public health practitioners can take several steps to access FMH and incorporate FMH into public health programs for the screening of the risk population.

16.
Support Care Cancer ; 32(9): 599, 2024 Aug 21.
Artículo en Inglés | MEDLINE | ID: mdl-39167224

RESUMEN

PURPOSE: The aim of this study was to investigate the experiences of living with glioblastoma from the perspective of patients themselves as well as their closest relatives, focusing on the changes in the life situation and the need for support. METHODS: Twenty-two semi-structured interviews were conducted with 12 patients (mean age 61 years, 7 male, 5 female) and 10 relatives (mean age 56 years, 3 male, 7 female). The relatives comprised of partners (n = 7), child (n = 1), sister (n = 1), or friend (n = 1). Questions focused on changes in the life situation and support needed to face these changes. Data was analyzed using inductive qualitative content analysis (QCA). RESULTS: Living with glioblastoma dramatically changes the lives of both patients and relatives. Cognitive symptoms (e.g., speech and memory disturbances), deterioration of physical function (e.g., paresis), and psychological function (e.g., behavioral changes, anxiety) can lead to impaired family dynamics, social isolation, and fear of the future. Support from other family members, friends, and healthcare professionals is crucial. Timely, tangible, and easily available support from the healthcare system the entire disease trajectory is sought after, enabling individualized care with emotional support, clearer information, and faster feedback. CONCLUSION: The changes in life situations faced by patients with glioblastoma and their closest relatives are dramatic and underline the importance of providing integrated care throughout the entire healthcare continuum, encompassing specialist neuro-oncological care, municipal support, and palliative care. Individualized support for both patients and relatives can enhance the sense of safety amid the chaos in their life situation.


Asunto(s)
Neoplasias Encefálicas , Familia , Glioblastoma , Apoyo Social , Humanos , Glioblastoma/psicología , Masculino , Femenino , Persona de Mediana Edad , Anciano , Familia/psicología , Neoplasias Encefálicas/psicología , Aislamiento Social/psicología , Investigación Cualitativa , Adulto , Autonomía Personal , Entrevistas como Asunto
17.
Mol Breed ; 44(8): 54, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39148502

RESUMEN

Utilization of crop wild relatives of wheat can be very effective in building the genetic diversity to cater to the evolving strains of disease pathogens. Aegilops speltoides is a rich source of rust resistance genes however transferring those to wheat genome can be tedious due to co-transfer and preferential transmission of undesirable genes causing gametocidal activity. Such an unholy association was observed in Triticum aestivum-Ae. speltoides derivative line Sel. 2427 which possess the broad-spectrum leaf rust seedling resistance gene (LrS2427). Molecular analysis based on 35 K wheat breeder's array revealed the maximum percentage of Ae. speltoides genome introgression on homoeologous group 2. In situ hybridization studies revealed the presence of S genome in Sel. 2427, showing six translocations on four chromosomes. Karyotyping using repetitive probe (AAG)6 revealed that the two chromosomes involved are 2D and 2B. Genic regions causing gametocidal activity were identified by dissecting it into component traits and QTLs on 2D and 2B chromosomes were revealed in case of the trait seed shrivelling index. To break the inadvertent association of LrS2427 with gametocidal genes, F1(Agra Local X Sel. 2427) seeds were irradiated with gamma rays and stable leaf rust resistant mutants lacking gametocidal activity were developed. These mutants showed resistance to different races of leaf rust pathogen and showed superior agronomic performance as well. These mutants could be a great resource in wheat improvement for utilization of the leaf rust resistance gene LrS2427 without any yield penalty. Supplementary Information: The online version contains supplementary material available at 10.1007/s11032-024-01491-8.

18.
J Psychiatr Res ; 178: 33-40, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39121705

RESUMEN

Verbal fluency (VF) has been proposed as a putative neurocognitive endophenotype in schizophrenia (SZ) and bipolar disorder (BD). However, this hypothesis has not been examined using a longitudinal family approach. We conducted a five-group, comparative study. The sample comprised 323 adult participants, including 81 BD patients, 47 unaffected relatives of BD BD-Rel), 76 SZ patients, 40 unaffected relatives of SZ (SZ-Rel), and 79 genetically unrelated healthy controls (HC). All subjects were assessed twice with semantic VF (sem-VF) and phonological VF (ph-VF) tests over a 2-year follow-up period. ANCOVAs controlling for age and years of education were used to compare performance across groups. Patients with SZ and BD and their unaffected relatives showed sem-VF and ph-VF deficits at baseline, which persisted over time (all, p < 0.05). Moreover, BD-Rel showed an intermediate performance between SZ and HC. A repeated-measures ANOVA revealed no significant differences in the between-group trajectories comparison (p > 0.05). Our findings support that VF may represent a neurocognitive endophenotype for SZ and BD. Further longitudinal, family studies are warranted to confirm this preliminary evidence.


Asunto(s)
Trastorno Bipolar , Endofenotipos , Esquizofrenia , Humanos , Trastorno Bipolar/fisiopatología , Trastorno Bipolar/complicaciones , Esquizofrenia/complicaciones , Esquizofrenia/fisiopatología , Masculino , Femenino , Adulto , Estudios Longitudinales , Persona de Mediana Edad , Familia , Semántica , Pruebas Neuropsicológicas
19.
J Affect Disord ; 365: 321-331, 2024 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-39142577

RESUMEN

BACKGROUND: Relatives of individuals with bipolar disorder (BD) are at higher risk of developing the disorder. Identifying brain alterations associated with familial vulnerability in BD can help discover endophenotypes, which are quantifiable biological traits more prevalent in unaffected relatives of BD (BD-RELs) than the general population. This review aimed at expanding our knowledge on endophenotypes of BD by providing an overview of resting-state functional magnetic resonance imaging (rs-fMRI) alterations in BD-RELs. METHODS: A systematic search of PubMed, Scopus, and Web of Science was performed to identify all available rs-fMRI studies conducted in BD-RELs up to January 2024. A total of 18 studies were selected. Six included BD-RELs with no history of psychiatric disorders and 10 included BD-RELs that presented psychiatric disorders. Two investigations examined rs-fMRI alterations in BD-RELs with and without subthreshold symptoms for BD. RESULTS: BD-RELs presented rs-fMRI alterations in the cortico-limbic network, fronto-thalamic-striatal circuit, fronto-occipital network, and, to a lesser extent, in the default mode network. This was true both for BD-RELs with no history of psychopathology and for BD-RELs that presented psychiatric disorders. The direct comparison of rs-fMRI alterations in BD-RELs with and without psychiatric symptoms displayed largely non-overlapping patterns of rs-fMRI abnormalities. LIMITATIONS: Small sample sizes and the clinical heterogeneity of BD-RELs limit the generalizability of our findings. CONCLUSIONS: The current literature suggests that first-degree BD-RELs exhibit rs-fMRI alterations in brain circuits involved in emotion regulation, cognition, reward processing, and psychosis susceptibility. Future studies are needed to validate these findings and to explore their potential as biomarkers for early detection and intervention.


Asunto(s)
Trastorno Bipolar , Encéfalo , Endofenotipos , Familia , Imagen por Resonancia Magnética , Trastorno Bipolar/fisiopatología , Trastorno Bipolar/diagnóstico por imagen , Trastorno Bipolar/genética , Humanos , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología
20.
Ecol Evol ; 14(8): e70082, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39206463

RESUMEN

Complete chloroplast genomes of 17 samples from six species of Colocasia (Araceae) were sequenced, assembled, and aligned together with two previously reported complete genome sequences from taro (Colocasia esculenta). Analysis provides a well-supported phylogenetic tree for taro and closely-related wild Colocasia species in Southeast Asia. Two chloroplast lineages (CI and CII) form a well-defined haplotype group and are found in cultivated taros known as var. esculenta (dasheen, CI), var. antiquorum (eddoe, CII), and in a widespread, commensal wild form known as var. aquatilis (CI). A third lineage (CIII) is also found in wild taros known as var. aquatilis and in the wild species C. lihengiae, C. formosana, and C. spongifolia. We suggest three different scenarios to explain the grouping of CIII wild taros (C. esculenta) with other wild Colocasia species. Chloroplast lineages CI and CIII in C. esculenta and an unknown parent species may be involved in an as yet undated history of hybridization, chloroplast capture, and range extension. Substantial taxonomic revision may be needed for C. esculenta after further studies of morphological and genetic diversity within the crop, in wild populations, and in closely related wild species. The results also point to the Bengal delta as a region of key interest for future research on the origins of tropical wetland taros.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA