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Loss of Aspm causes increased apoptosis of developing neural cells during mouse cerebral corticogenesis

by Madoka Tonosaki, Akira Fujimori, Takeshi Yaoi, Kyoko Itoh

Abnormal spindle-like microcephaly associated (ASPM) is a causative gene of primary autosomal recessive microcephaly. Microcephaly is considered to be a consequence of a small brain, but the associated molecular mechanisms are not fully understood. In this study, we generated brain-specific Aspm knockout mice to evaluate the fetal brain phenotype and observed cortical reduction in the late stage of murine cortical development. It has been reported that the total number of neurons is regulated by the number of neural stem and progenitor cells. In the Aspm knockout mice, no apparent change was shown in the neural progenitor cell proliferation and there was no obvious effect on the number of newly generated neurons in the developing cortex. On the other hand, the knockout mice showed a constant increase in apoptosis in the cerebral cortex from the early through the late stages of cortical development. Furthermore, apoptosis occurred in the neural progenitor cells associated with DNA damage. Overall, these results suggest that apoptosis of the neural progenitor cells is involved in the thinning of the mouse cerebral cortex, due to the loss of the Aspm gene in neocortical development.

Association between oral condition and subjective psychological well-being among older adults attending a university hospital dental clinic: A cross-sectional study

by Noriko Takeuchi, Nanami Sawada, Daisuke Ekuni, Manabu Morita

Positive psychological well-being has a favorable impact on survival rates in both healthy and unhealthy populations. Oral health is also associated with psychological well-being, is multidimensional in nature, and includes physical, psychological, emotional, and social domains that are integral to overall health and well-being. This study aimed to identify the associations between individual and environmental characteristics, oral condition and nutritional status in relation to subjective well-being among older adults using the Wilson and Cleary conceptual model. The participants were older adults (age ≥ 60 years) attending a university hospital. Subjective well-being was assessed using the World Health Organization-5 Well-Being Index, oral condition was assessed based on the number of bacteria in the tongue coating, oral wettability, tongue pressure, occlusal force, oral diadochokinesis, and masticatory ability, and subjective swallowing function was assessed using the Eating Assessment Tool, number of remaining teeth, and number of functional teeth. In addition, factors related to well-being, including social networks, life–space mobility, nutritional status, smoking history, drinking history, and medical history were assessed. In the analysis, structural equation modeling was used to investigate the association between oral condition and subjective well-being. Confirmatory factor analysis revealed oral condition as a latent variable, including tongue pressure, oral diadochokinesis /pa/, /ta/, /ka/, occlusal force, masticatory ability, subjective swallowing function, and number of functional teeth. Structural Equation Modeling revealed that oral condition was positively correlated with nutritional status, and nutritional status was positively correlated with the World Health Organization-5 Well-Being Index. These findings suggest that oral condition may influence subjective well-being via nutritional status or social environmental factors.

Predilection sites of pyoderma gangrenosum: Retrospective study of 170 clearly diagnosed patients

Abstract

Pyoderma gangrenosum (PG) is a non-infectious, neutrophilic dermatosis that was difficult to diagnose in clinical practice. Today, the PARACELSUS score is a validated tool for diagnostics. Based on this score, patients with clearly diagnosed PG were examined with regard to predilection sites. In this retrospective study, the data of patients from the University Hospitals of Essen and Erlangen were analysed in whom the diagnosis of PG could be clearly confirmed using the PARACELSUS score. A total of 170 patients, 49 men (29%) and 121 women (71%) with an average age at first manifestation of 55.5 years, could be included in the analysis. The predilection sites were identified as the lower legs in 80.6% of the patients and the extensor sides in 75.2%. Other localisations of PG were the thighs in 14.1%, mammae and abdomen in 10.0% each, back and gluteal in 7.1% each, feet in 5.9%, arms in 4.7%, genital in 3.5% and head in 2.9%. This retrospective study is the first to identify a collective of PG patients with the highest data quality using the PARACELSUS score. It could be shown that PG can basically occur on the entire integument. However, the predilection sites of PG, which have now been reliably identified for the first time, are the lower legs and in particular the extensor sides.

Prevalence of psychological distress and associated factors among patients undergoing comprehensive genomic profiling testing: protocol for a multicentre, prospective, observational study

Por: Matsuoka · A. · Fujimori · M. · Koyama · T. · Sato · A. · Mori · K. · Hirata · M. · Tanabe · N. · Nakachi · K. · Kato · S. · Okamoto · H. · Ogawa · K. · Komatsu · H. · Iwasaku · M. · Miyaji · T. · Uchitomi · Y.
Introduction

Since May 2019, comprehensive genomic profiling (CGP) has been covered by Japan’s health insurance system for patients with solid tumours that have progressed on standard chemotherapy, rare tumours or tumours of unknown primary origin. Although CGP has the potential to identify actionable mutations that can guide the selection of genomically matched therapies for patients with advanced cancer and limited treatment options, less than 10% of patients benefit from CGP testing, which may have a negative impact on patients’ mental status. The aim of this study is to investigate the prevalence of psychological distress and associated factors among patients with advanced cancer who are undergoing CGP testing across Japan.

Methods and analysis

This multicentre, prospective cohort study will enrol a total of 700 patients with advanced cancer undergoing CGP testing. Participants will be asked to complete questionnaires at three timepoints: at the time of consenting to CGP testing (T1), at the time of receiving the CGP results (T2; 2–3 months after T1) and 4–5 months after T2 (T3). Primary outcome is the prevalence of depression as measured by the Patient Health Questionnaire-9 at the three timepoints. Secondary outcomes are the prevalence of anxiety and Quality of Life Score. Associated factors with psychological distress will also be examined, including knowledge about CGP, attitudes, values and preferences towards CGP, satisfaction with oncologists’ communication and patient characteristics as well as medical information including CGP test results and genomically matched therapies if provided. The prevalence of depression and anxiety will be estimated using the unadjusted raw rates observed in the total sample. Longitudinal changes in measures will be explored by calculating differences between the timepoints. Multivariate associations between variables will be examined using multiple or logistic regression analysis depending on the outcomes to adjust for confounders and to identify outcome predictors.

Ethics and dissemination

This study was approved by the Institutional Review Board of the National Cancer Center Japan on 5 January 2023 (ID: 2022-228). Study findings will be disseminated through peer-reviewed journals and conference presentations.

Trial status

The study is currently recruiting participants and the enrolment period will end on 31 March 2025, with an expected follow-up date of 31 March 2026.

Trial registration number

UMIN000049964.

Elucidation of the needs for telecritical care services in Japan: a qualitative study

Por: Morimoto · M. · Nawa · N. · Okada · E. · Itsui · Y. · Kashimada · A. · Yamamoto · K. · Akaishi · Y. · Yamawaki · M.
Objective

To clarify the reasons for consultation, advice sought by frontline physicians and relationship between the patient’s pathology and the type of advice provided to guide the future development of telecritical care services.

Design

Secondary analysis of transcripts of telephone calls originally recorded for quality control purposes was conducted using a thematic content analysis. The calls were conducted between December 2019 and April 2021 (total cases: 70; total time: ~15 hour).

Settings

Intensivists provided consultation services to frontline physicians at secondary care institutions in the Kansai and Chubu regions.

Participants

Non-intensive care frontline physicians working in five secondary care institutions in the Kansai and Chubu regions and intensivists providing a consultation service (n=26).

Interventions

Not applicable.

Primary and secondary outcome measures

The main outcome was the themes emerging from the language used during telephone and video consultations, indicating the gap filled by the telecritical care service.

Findings

We analysed 70 cases and approximately 15 hours of anonymised audio data. We identified the following reasons for consultation: ‘lack of competence in treatment and diagnostic testing’ and ‘lack of access to consultation in their own hospital’. Frontline physicians most often sought advice related to ‘treatment’, followed by ‘patient triage and transfer’, ‘diagnosis’ and ‘diagnostic testing and evaluation’. Regarding the relationship between the patient’s pathology and type of advice provided, the most commonly sought advice by frontline physicians varied based on the patient’s pathology.

Conclusion

This study explored the characteristics of 70 telecritical sessions and identified the reasons for and nature of the consultations. These findings can be used to guide the future provision and scale up of telecritical services.

Frailty in community‐dwelling older people and nursing home residents: An adaptation and validation study

Abstract

Aim

The aim of this was to psychometrically adapt and evaluate the Tilburg Frailty Indicator to assess frailty among older people living in Slovenia's community and nursing home settings.

Design

A cross-cultural adaptation and validation of instruments throughout the cross-sectional study.

Methods

Older people living in the community and nursing homes throughout Slovenia were recruited between March and August 2021. Among 831 participants were 330 people living in nursing homes and 501 people living in the community, and all were older than 65 years.

Results

All items were translated into the Slovene language, and a slight cultural adjustment was made to improve the clarity of the meaning of all items. The average scale validity index of the scale was rated as good, which indicates satisfactory content validity. Cronbach's α was acceptable for the total items and subitems.

Conclusions

The Slovenian questionnaire version demonstrated adequate internal consistency, reliability, and construct and criterion validity. The questionnaire is suitable for investigating frailty in nursing homes, community dwelling and other settings where older people live.

Impact

The Slovenian questionnaire version can be used to measure and evaluate frailty among older adults. We have found that careful translation and adaptation processes have maintained the instrument's strong reliability and validity for use in a new cultural context. The instrument can foster international collaboration to identify and manage frailty among older people in nursing homes and community-dwelling homes.

Reporting Method

The Strengthening the Reporting of Observational Studies in Epidemiology checklist for reporting cross-sectional studies was used.

No Patient or Public Contribution

No patient or public involvement in the design or conduct of the study. Head nurses from nursing homes and community nurses helped recruit older adults. Older adults only contributed to the data collection and were collected from nursing homes and community dwelling.

Vivencias de un padre ante una pérdida perinatal. Lo que la sociedad calla

La pérdida perinatal es una de las experiencias más traumáticas a la que cualquier progenitor puede enfrentarse. La mujer gestante es considerada el centro de atención mientras que al miembro de la pareja no gestante se le trata, en muchas ocasiones, como mero espectador y no como parte del proceso doloroso. A nivel hospitalario aún no se han instaurado unos protocolos sólidos, lo que hace que en múltiples ocasiones el abor-daje no sea el adecuado y el inicio del duelo sea dificultoso. A esto se suma que la sociedad trata de borrar ese suceso, lo que genera en los pa-dres una sensación de incomprensión desencadenando un proceso de duelo desautorizado, un duelo solitario y en silencio. A través de este relato biográfico, mediante la narrativa de las vivencias de un padre, podemos identificar factores no favorecedores del proceso de duelo desencadenados, tanto por el entorno socio-familiar, como por el sanitario. La visibilidad social y un buen abordaje profesional desde el diagnóstico serán la clave para mejorar la atención a ambos progenitores en el proceso del duelo perinatal.

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