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Summary: Sensory neurons in the neocortex exhibit distinct functional selectivity to constitute the neural map. While neocortical map of the visual cortex in higher mammals is clustered, it displays a striking “salt-and-pepper” pattern in rodents. However, little is known about the origin and basis of the interspersed neocortical map. Here we report that the intricate excitatory neuronal kinship-dependent synaptic connectivity influences precise functional map organization in the mouse primary visual cortex. While sister neurons originating from the same neurogenic radial glial progenitors (RGPs) preferentially develop synapses, cousin neurons derived from amplifying RGPs selectively antagonize horizontal synapse formation. Accordantly, cousin neurons in similar layers exhibit clear functional selectivity differences, contributing to a salt-and-pepper architecture. Removal of clustered protocadherins (cPCDHs), the largest subgroup of the diverse cadherin superfamily, eliminates functional selectivity differences between cousin neurons and alters neocortical map organization. These results suggest that developmental neuronal origin regulates neocortical map formation via cPCDHs.

The effect of dietary patterns on lung cancer risk is currently debated. In this study, we evaluated the association between different “a posteriori” dietary patterns and lung cancer risk. The search was carried out (February 2023) through Scopus, Web of Science, and PubMed databases. Meta-analysis was performed by a random-effects model using risk values (RR and OR) extracted from the 12 selected studies. Two main dietary patterns were identified and named “Western/meat” and “Healthy/prudent”. The highest adherence to the “Western/meat” dietary pattern significantly increased the lung cancer risk (OR = 1.39; 95% CI: 1.17–1.65; p = 0.0002) while the highest adherence to the “Healthy/prudent” pattern reduced it (OR = 0.65; 95% CI: 0.51–0.83; p = 0.001). A linear trend between both dietary patterns and lung cancer risk was observed. However, a statistically significant inverse dose–response trend was found only for the “Healthy/prudent” dietary pattern (regression coefficient = −0.0031, p = 0.003). Subgroup analyses showed that the “Western/meat” pattern significantly increased the lung cancer risk in former (n = 4) (OR = 1.93, 95% CI: 1.11–3.36) and current smokers (n = 7) (OR = 1.35, 95% CI: 1.06–1.71). Similarly, the “Healthy/prudent” pattern exerts a protective effect on former (n = 4) (OR = 0.61, 95% CI: 0.44–0.85) and current smokers (n = 8) (OR = 0.64, 95% CI: 0.46–0.88). For both dietary patterns, no significant effect was observed on never-smokers.

Genomic medicine, an emerging medical discipline, applies the principles of evolution, developmental biology, functional genomics, and structural genomics within clinical care. Enabling widespread adoption and integration of genomic medicine into clinical practice is key to achieving precision medicine. We delineate a biological framework defining diagnostic utility of genomic testing and map the process of genomic medicine to inform integration into clinical practice. This process leverages collaboration and collective cognition of patients, principal care providers, clinical genomic specialists, laboratory geneticists, and payers. We detail considerations for referral, triage, patient intake, phenotyping, testing eligibility, variant analysis and interpretation, counseling, and management within the utilitarian limitations of health care systems. To reduce barriers for clinician engagement in genomic medicine, we provide several decision-making frameworks and tools and describe the implementation of the proposed workflow in a prototyped electronic platform that facilitates genomic care. Finally, we discuss a vision for the future of genomic medicine and comment on areas for continued efforts.

Integration of mechanical cues in conventional 2D or 3D cell culture platforms is an important consideration for in vivo and ex vivo models of lung health and disease. Available commercial and published custom-made devices are frequently limited in breadth of applications, scalability, and customization. Herein we present a technical report on an open-source, cell and tissue (CaT) stretcher, with modularity for different in vitro and ex vivo systems, that includes the following features: 1) Programmability for modeling different breathing patterns, 2) scalability to support low to high-throughput experimentation, and 3) modularity for submerged cell culture, organ-on-chips, hydrogels, and live tissues. The strategy for connecting the experimental cell or tissue samples to the stretching device were designed to ensure that traditional biomedical outcome measurements including, but not limited to microscopy, soluble mediator measurement, and gene and protein expression remained possible. Lastly, to increase the uptake of the device within the community, the system was built with economically feasible and available components. To accommodate diverse in vitro and ex vivo model systems we developed a variety of chips made of compliant polydimethylsiloxane (PDMS) and optimized coating strategies to increase cell adherence and viability during stretch. The CaT stretcher was validated for studying mechanotransduction pathways in lung cells and tissues, with an increase in alpha smooth muscle actin protein following stretch for 24 h observed in independent submerged monolayer, 3D hydrogel, and live lung tissue experiments. We anticipate that the open-source CaT stretcher design will increase accessibility to studies of the dynamic lung microenvironment through direct implementation by other research groups or custom iterations on our designs.

Abstract Alcohol use disorder exhausts substantial social and economic costs, with recent dramatic increases in female problem drinking. Thus, it is critically important to understand signaling differences underlying alcohol consumption across the sexes. Orexin-1 receptors (Ox1Rs) can strongly promote motivated behavior, and we previously identified Ox1Rs within nucleus accumbens shell (shell) as crucial for driving binge intake in higher-drinking male mice. Here, shell Ox1R inhibition did not alter female mouse alcohol drinking, unlike in males. Also, lower dose systemic Ox1R inhibition reduced compulsion-like alcohol intake in both sexes, indicating that female Ox1Rs can drive some aspects of pathological consumption, and higher doses of systemic Ox1R inhibition (which might have more off-target effects) reduced binge drinking in both sexes. In contrast to shell Ox1Rs, inhibiting shell calcium-permeable AMPA receptors (CP-AMPARs) strongly reduced alcohol drinking in both sexes, which was specific to alcohol since this did not reduce saccharin intake in either sex. Our results together suggest that the shell critically regulates binge drinking in both sexes, with shell CP-AMPARs supporting intake in both sexes, while shell Ox1Rs drove drinking only in males. Our findings provide important new information about sex-specific and -general mechanisms that promote binge alcohol intake and possible targeted therapeutic interventions.

Abstract We aim to explore the connections between structural network inequalities and bank’s customer spending behaviours, within an entire national ecosystem made of natural persons (i.e., an individual human being) and legal entities (i.e., private or public organisations), different business sectors, and supply chains that span distinct geographical regions. We focus on Italy, that is among the wealthiest nations in the world, and also an example of a complex economic system. In particular, we had access to a large subset of anonymised and GDPR-compliant wire transfer data recorded from Jan 2016 to Dec 2017 by Intesa Sanpaolo, a leading banking group in the Eurozone, and the most important one in Italy.Intesa Sanpaolo wire transfers network exhibits a strong heavy-tailed behaviour and a giant component that grows continuously around the same core of the 1% highest degree nodes, and it also shows a general disassortative pattern, even if some ranges of degrees’ values stand out from the trend. Structural heterogeneity is explored further by means of a bow-tie analysis, that shows clearly that the majority of relevant, in terms of transferred amount, transactions is settled between a smaller set of nodes that are associated to legal entities and that mostly belong to the strongly connected component. This observation brings to a more comprehensive inspection of differences between Italian regions and business sectors, that could support the detection and the understanding of the interplay between supply chains.Our results suggest that there is a general flow of money that seems to stream down from higher degree legal entities to lower degree natural persons, crossing Italian regions and connecting different business sectors, and that is finally redistributed through expenses sharing within families and smaller communities. We also describe a reference dataset and an empirical contribution to the study on financial networks, focusing on finer-grained information concerned about spending behaviour through wire transfers.

Background Association between diabetes mellitus (DM) and risk of osteoarthritis (OA) can be confounded by body mass index (BMI), a strong risk factor for both conditions. We evaluate the association between DM or hyperglycaemia with OA using systematic review and meta-analysis.Methods We searched PubMed and Web of Science databases in English for studies that gave information on the association between DM and OA. Two meta-analysis models were conducted to address: (1) risk of DM comparing subjects with and without OA and (2) risk of OA comparing subjects with and without DM. As far as available, risk estimates that adjusted for BMI were used.Results 31 studies with a pooled population size of 295 100 subjects were reviewed. 16 and 15 studies reported positive associations and null/ negative associations between DM and OA. 68.8% of positive studies had adjusted for BMI, compared with 93.3% of null/negative studies. In meta-analysis model 1, there was an increase prevalence of DM in subjects with OA compared with those without (OR 1.56, 95% CI 1.28 to 1.89). In meta-analysis model 2, there was no increased risk of OA (OR 1.14, 95% CI 0.98 to 1.33) in subjects with DM compared with those without, regardless of gender and OA sites. Comparing subjects with DM to those without, an increased risk of OA was noted in cross-sectional studies, but not in case-control and prospective cohort studies.Conclusions This meta-analysis does not support DM as an independent risk factor for OA. BMI was probably the most important confounding factor.

Numerous wild bee (Hymenoptera, Apoidea, Anthophila) species show negative population trends, while the knowledge gaps on their occurrences and distributions prevent adequate conservation actions. The need for continuous updating of species records and reconfirmation of their presence has been recognized, especially in understudied areas. The present study presents the results of bee monitoring at 30 Serbian localities, each surveyed three times during 2023. Two sampling methods were used, the transect walks and the pan traps, resulting in a detection of 232 wild bee species. Among them, 13 species found at 13 localities, represent the first published records from Serbia: Andrena ferox Smith, 1847, A. nana (Kirby, 1802), A. praecox (Scopoli, 1763), A. pusilla Pérez, 1903, A. susterai Alfken, 1914, A. angustior (Kirby,1802), A. curvungula Thomson,1870, A. falsifica Perkins, 1915, Hoplitis mitis (Nylander, 1852), Hylaeus friesei (Alfken, 1904), Melitta melanura (Nylander, 1852), Nomada trapeziformis Schmiedeknecht, 1882, and Osmia uncinata Gerstaecker, 1869. This study contributes to an update of the list of bee species in Serbia, that now counts 744 species, and also provides additional data on European distributions. The new information on Melitta melanura is especially noteworthy, since this species has been assessed as Endangered by the European Red List of Bees due to its small area of occupancy and a severely fragmented distribution. Other important findings include the confirmation of the presence of some wild bee species in Serbia, i.e., 10 species reported as new records within the previous update, and 19 species that were without previously available records from the 21st century. Additionally, the present study indicates the effectiveness of both conducted monitoring techniques, in terms of different recorded species and numbers of specimens. These results lead to the conclusion that corroborates the application of complementary sampling methods as an adequate way to survey bee diversity and abundance.

Abstract Background and objectives Hypertensive disorders of pregnancy (HDPs) remain one of the leading causes of maternal mortality globally, especially in Low- and middle-income countries (LMICs). To reduce the burden of associated morbidity and mortality, standardized prompt recognition, evaluation, and treatment have been proposed. Health disparities, barriers to access to healthcare, and shortage of resources influence these conditions. We aimed to synthesize the literature evidence for the management of HDPs in LMICs. Methods A scoping review was conducted in five databases (PubMed, Web of Science, Epistemonikos, Clinical Key and, Scielo) using MeSh terms, keywords, and Boolean connectors. We summarized the included studies according to the following categories: study design, objectives, settings, participant characteristics, eligibility criteria, interventions, assessed outcomes, and general findings. Results Six hundred fifty-one articles were retrieved from the literature search in five databases. Following the selection process, 65 articles met the predefined eligibility criteria. After performing a full-text analysis, 27 articles were included. Three themes were identified from the articles reviewed: prevention of HDPs, management of HDPs (antihypertensive and non-hypertensive management) and pregnancy monitoring and follow-up. The topics were approached from the perspective of LMICs. Conclusions LMICs face substantial limitations and obstacles in the comprehensive management of HDPs. While management recommendations in most LMICs align with international guidelines, several factors, including limited access to crucial medications, unavailability of diagnostic tests, deficiencies in high-quality healthcare infrastructure, restrictions on continuing professional development, a shortage of trained personnel, community perceptions of preeclampsia, and outdated local clinical practice guidelines, impede the comprehensive management of patients. The development and implementation of protocols, standardized guides and intervention packages are a priority.

Abstract Several population-level studies have described individual clinical risk factors associated with suboptimal antibody responses following COVID-19 vaccination, but none have examined multimorbidity. Others have shown that suboptimal post-vaccination responses offer reduced protection to subsequent SARS-CoV-2 infection; however, the level of protection from COVID-19 hospitalisation/death remains unconfirmed. We use national Scottish datasets to investigate the association between multimorbidity and testing antibody-negative, examining the correlation between antibody levels and subsequent COVID-19 hospitalisation/death among double-vaccinated individuals. We found that individuals with multimorbidity ( ≥ five conditions) were more likely to test antibody-negative post-vaccination and 13.37 [6.05–29.53] times more likely to be hospitalised/die from COVID-19 than individuals without conditions. We also show a dose-dependent association between post-vaccination antibody levels and COVID-19 hospitalisation or death, with those with undetectable antibody levels at a significantly higher risk (HR 9.21 [95% CI 4.63–18.29]) of these serious outcomes compared to those with high antibody levels.

Abstract Background Mentoring is vital to career development in academic medicine, and communication underlies all aspects of the mentoring relationship. Although training research mentors has been shown to be effective, few academic medicine faculties have received training in how to mentor. The investigators developed a novel intervention, the Mentor Communication Skills Training for Oncology Faculty (“Comskil Mentor Training”) and examined feasibility and preliminary efficacy. Methods The study was a single arm pre-post intervention design. The intervention (Comskil Mentor Training) was offered in one virtual 3-hour session and included a didactic lecture with exemplary skill demonstration videos, facilitator-led small group role plays with trained actors, and evaluation. 19 faculty members from 12 departments participated in the training. Results All participants completed the training. Overall, the training was rated favorably, with more than 80% of participants indicating that they “agreed” or “strongly agreed” with training evaluation. From pre- to post-training, significant improvement was seen in participants’ overall self-efficacy to communicate with mentees, as well as participants’ overall use of communication skills and mentoring-specific language. Conclusions Our findings support the feasibility and preliminary efficacy of a virtually delivered experiential mentor communication skills training program for multidisciplinary clinical and research faculty in oncology.

Introduction Lafora disease (LD) is an ultrarare fatal progressive myoclonic epilepsy, causing drug-resistant epilepsy, myoclonus and psychomotor deterioration. LD is caused by mutations in EPM2A or NHLRC1, which lead to the accumulation of polyglucosans in the brain and neurodegeneration. There are no approved treatments for LD. VAL-1221 is a fusion protein comprising the Fab portion of a cell-penetrating antibody and recombinant human acid alpha glucosidase, and has demonstrated an ability to clear polyglucosans. We hypothesise that intravenous infusion of VAL-1221 might be able to degrade cerebral polyglucosans and stabilise or improve disease outcomes. The aim of this study is to assess the safety and preliminary efficacy of VAL-1221 in patients with LD.Methods and analysis The study is a phase 2, single-arm, open-label, baseline-controlled clinical trial which will be conducted in a single investigational study centre in Italy, namely the sponsor ‘IRCCS Istituto delle Scienze Neurologiche di Bologna—Azienda USL di Bologna’. The study will enrol six genetically confirmed patients with mid- to late-stage LD. The global duration of the study for each participant will be 18 months, including screening period, open-label treatment (12 months) and follow-up period. VAL-1221 20 mg/kg will be administered as an intravenous infusion every week for 3 weeks, then every other week. Patients will undergo full clinical assessments at baseline, at an intermediate and at the end-of-treatment visit. The primary objective is to evaluate the safety. The exploratory efficacy endpoints will be related to epilepsy, neuropsychological and motor functions, global assessment and disease burden, in addition to biomarkers. Statistical analyses will be primarily descriptive.Ethics and dissemination The study protocol was approved by the local ethics committee (number 232-2023-FARM-AUSLBO-23020, 22 March 2023). The results of this study will be disseminated by the investigators through presentations at international scientific conferences and reported in peer-reviewed scientific journals.Trial registration number European Union Clinical Trials Register (EudraCT 2023-000185-34).

Introduction Transition of care for a patient between hospital and home can cause disruption to normal routines, increasing the risk of medicines-related harm. The transition from hospital to home is more complex when a patient does not self-manage their medicines but relies on an informal or unpaid carer (eg, spouse, family member or friend) to provide support. Given the day-to-day medicines-related support provided by informal carers, there is a need to understand how informal carers manage the transition of care from hospital to home; what aspects of hospital discharge act as barriers and facilitators to their involvement and when, how and why these impact patients.Methods and analysis A realist review will be undertaken to develop a programme theory. The programme theory will theorise which medicines-related interventions are useful to carers, and how they are useful. It will outline what aspects of those interventions are the most useful and why, and how context influences engagement and medicine-related outcomes. The review will be reported in line with the Realist and Meta-narrative Evidence Syntheses: Evolving Standards guidelines. Data will be selected, screened and extracted based on defined inclusion and exclusion criteria and relevance to the developing programme theory with the involvement of at least two authors acting independently. Inclusion criteria relate to the relevance to hospital discharge where patients move back to their home, where a carer is involved and where interventions relate to medicines use. Searches will be conducted in PubMed, CINAHL (via EBSCOhost) and EMBASE databases (see supplementary materials for a draft search strategy).Patients and public, participation, involvement and engagement (PPIE) will be incorporated into all stages of the review through iterative engagement and discussion with patient, carers and representatives from carer organisations. The review will follow four steps: (1) development of the initial programme theory, (2) evidence search, (3) selection, extracting, and organising data and (4) synthesising evidence and drawing conclusions.Informal carer involvement in transitions of care is a complex and varied phenomena. The programme theory will be shaped by sustained PPIE reflecting the priorities and experiences of lived experience. The realist review be progressively focused so we can develop a better understanding of carer involvement in patient transitions when moving from hospital to home relating to medicines use.Ethics and dissemination Ethical approval is not required. The findings of the review will be disseminated via journal articles and through patient and public facing resources such as a visual patient–public-carer focused summary.PROSPERO registration number CRD42021262827.

Introduction Strabismus influences health-related quality of life. Individuals may have functional and psychosocial consequences of strabismus that impact their well-being. As strabismus is prevalent in all age groups, patients are seen in varied specialties in healthcare organizations. Therefore, healthcare professionals need to be aware of the psychosocial consequences when caring for strabismic individuals. Objective To describe strabismic adults’ experiences of the psychosocial influence of strabismus. Methods Twelve strabismic adults participated in face-to-face or online semistructured individual interviews to share their experiences of the psychosocial influence of strabismus. The participants were selected purposefully. The data were analyzed using inductive content analysis. Results The participating adults described challenges with social environments, which showed stress in social situations and pressure in interactions. Strabismic adults had experienced staring from others, avoided social situations, and were uncomfortable with photography. They hid their strabismus, avoided eye contact, and struggled with intimate relationships. They also expressed struggles with mental well-being, which were emotional and psychological burdens. The adults described feeling negative emotions, worry, and irritation due to their condition. Struggles with self-confidence, difficulties with acceptance, negative thoughts about their appearance, experiences of bullying, and dealing with being different were described. Conclusion Strabismic adults experience psychosocial consequences of strabismus, influencing their psychosocial health-related quality of life. Further studies should focus on how healthcare professionals could support strabismic individuals’ psychosocial well-being.

Background The role of cellular senescence in human heart failure (HF) remains unclear. The senescence‐associated secretory phenotype (SASP) is composed of proteins released by senescent cells. We assessed the prognostic significance and biologic pathways associated with the SASP in human HF using a plasma proteomics approach. Methods and Results We measured 25 known SASP proteins among 2248 PHFS (Penn HF Study) participants using the SOMAScan V4 assay. We extracted the common variance in these proteins to generate SASP factor scores and assessed the relationship between these SASP factor scores and (1) all‐cause death and (2) the composite of death or HF hospital admission. We also assessed the relationship of each SASP factor to 4746 other proteins, correcting for multiple comparisons, followed by pathway analyses. Two SASP factors were identified. Both factors were associated with older age, lower estimated glomerular filtration rate, and more advanced New York Heart Association class, among other clinical variables. Both SASP factors exhibited a significant positive association with the risk of death independent of the Meta‐Analysis of Global‐Group in Chronic HF score and NT‐proBNP (N‐terminal pro‐B‐type natriuretic peptide) levels. The 2 identified SASP factors were associated with 1201 and 1554 proteins, respectively, belonging to various pathways including the coagulation system, complement system, acute phase response signaling, and retinoid X receptor–related pathways that regulate cell metabolism. Conclusions Increased SASP components are independently associated with adverse outcomes in HF. Biologic pathways associated with SASP are predominantly related to coagulation, inflammation, and cell metabolism.

BackgroundFollowing the initial acute phase of COVID-19, health care resource use has escalated among individuals with SARS-CoV-2 infection. ObjectiveThis study aimed to compare new diagnoses of long COVID and the demand for health services in the general population after the Omicron wave with those observed during the pre-Omicron waves, using similar assessment protocols for both periods and to analyze the influence of vaccination. MethodsThis matched retrospective case-control study included patients of both sexes diagnosed with acute SARS-CoV-2 infection using reverse transcription polymerase chain reaction or antigen tests in the hospital microbiology laboratory during the pandemic period regardless of whether the patients were hospitalized. We included patients of all ages from 2 health care departments that cover 604,000 subjects. The population was stratified into 2 groups, youths (

This study focuses on the avidus–nigritarsis lineage within the genus Merodon, exploring morphological, genetic, and distributional aspects of two related assemblies within this lineage: the clavipes and pruni species groups. An integrative taxonomic approach was followed to ensure comprehensive species identification and validation, using adult morphology, wing geometric morphometrics, and genetic analysis of the mtDNA COI gene. In the clavipes group, seven species were identified, including three new species: M. aenigmaticus Vujić, Radenković & Likov, sp. nov., M. latens Vujić, Radenković & Likov, sp. nov., and M. rufofemoris Vujić, Radenković & Likov, sp. nov. In the pruni group, our revision revealed a new species, M. aequalis Vujić, Radenković & Likov, sp. nov., and the revalidation of Merodon obscurus Gil Collado, 1929, stat. rev. Merodon pallidus Macquart, 1842 is redescribed. Diagnoses, identification keys to species, and distribution maps are provided, and neotypes for Syrphus clavipes Fabricius, 1781 and Merodon quadrinotatus (Sack, 1931) are designated. Additionally, the following new synonyms are proposed: M. clavipes albus syn. nov., M. clavipes ater syn. nov., M. clavipes niger syn. nov., and M. splendens syn. nov. are junior synonyms of M. clavipes; and M. velox armeniacus syn. nov. and M. velox anathema syn. nov. are junior synonyms of M. velox.

Abstract Background Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial. Methods This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy. Results Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339–6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified. Conclusion This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases.

Este proyecto se planteó para el fortalecimiento de la autoestima de ochenta estudiantes entre 15-19 años de ambos sexos que cursaban grado once en dos instituciones de los municipios de La Plata y Nátaga, Huila, con la finalidad de promover su salud mental, la cual se verá reflejada en un buen rendimiento académico. Por lo tanto, su desarrollo tuvo dos fases; en primer lugar, se aplicó la escala de autoestima de Rosenberg para medir el nivel de autoestima de los estudiantes, relacionándolo con el rendimiento académico de los mismos. En segundo lugar, se realizó un plan de intervención en el marco de la promoción de la salud mental, el cual contó con indicadores de proceso y de resultado que garantizaban el proceso de evaluación y monitoreo, dicho plan incluía actividades como talleres de psicoeducación para docentes y padres de familia, dinámicas de actos solidarios, juego de roles, juegos sobre competencias emocionales como un diario de gratitud, autorretratos y actividades lúdico-dinámicas como la denominada “Gincana”. Durante el periodo de dos meses, tras la implementación del programa de intervención, se aplicó por segunda vez la escala de autoestima de Rosenberg con el propósito de hacer un análisis de los resultados mediante la aplicación Jamovi. A partir de esta, se encontró una significativa correlación entre la autoestima, el rendimiento académico y la capacidad de toma de decisiones. En consecuencia, se interpretó como factor protector para evitar conductas de riesgo, y como un factor de riesgo cuando es débil o ausente. El desarrollo del proyecto se llevó a cabo con una metodología mixta, con ella, las estudiantes que apoyaron la ejecución del proyecto desarrollaron competencias para la construcción, aplicación y análisis de instrumentos cuantitativos y cualitativos que les permitieron acercarse al conocimiento del fenómeno para poder intervenir.

Abstract Background Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion was identified. Case presentation A 40-year-old female patient was referred to our department after undergoing aneurysm transcatheter arterial embolization for a brain aneurysm. She had no history of systemic diseases, except for unsatisfactory best-corrected visual acuity (BCVA) since elementary school. Electrophysiological tests confirmed the findings in retinal images, indicating optic nerve atrophy. Chromosomal microarray analysis revealed a de novo deletion spanning 960 kb on chromosome 3q29, encompassing OPA1 and six neighboring genes. Unlike previously reported deletions in this region associated with optic atrophy, neuropsychiatric disorders, and obesity, this patient displayed a unique combination of optic atrophy and a brain aneurysm. However, there is no causal relationship between the brain aneurysm and the CNV. Conclusion In conclusion, the optic atrophy is conclusively attributed to the OPA1 deletion, and the aneurysm could be a coincidental association. The report emphasizes the likelihood of underestimating OPA1 deletions due to sequencing technology limitations. Recognizing these constraints, healthcare professionals must acknowledge these limitations and consistently search for OPA1 variants/deletions in Autosomal Dominant Optic Atrophy (ADOA) patients with negative sequencing results. This strategic approach ensures a more comprehensive exploration of copy-number variations, ultimately enhancing diagnostic precision in the field of genetic disorders.

Purpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D) gene with different phenotypes in the electroretinogram (ERG). Observations: A 21-year-old lady (Patient 1) was referred due to experiencing blurry vision and color vision impairment. Visual field testing revealed a central scotoma. Spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) documented macula dysfunction. Reduced amplitude was observed in the photopic responses of ERG. Her 54-year-old father (Patient 2) had similar issues with blurry vision. A dilated fundus examination displayed bilateral macular atrophy. Loss of the ellipsoid zone line and collapse of the outer nuclear segment were noted on the SD-OCT. Photopic ERG responses were extinguished, and an electronegative ERG was observed in the dark-adapted 3.0 ERG. The gene report revealed a c.2512C > T (p.Arg838Cys) variant in GUCY2D for both patients. They were respectively diagnosed as cone dystrophy (COD) and cone-rod dystrophy (CORD). Conclusions: We report two different clinical phenotypes in GUCY2D-associated COD despite sharing the same variant. A dysfunction in the synaptic junction between the photoreceptor and the secondary neuron was proposed to explain the electronegative ERG. This explanation might extend to other gene-related cases of CORD with electronegative ERG.

The prevalence of serious mental illness is higher in healthcare professionals than in the general population. Mental health issues are associated with more lost workdays than any other chronic condition within the NHS. For healthcare professionals, disclosure of mental health condition can lead to stigmatisation and devaluation as a professional. The aim of this study was to investigate the experiences of living with a mental health condition as a healthcare professional and access to support. The study used qualitative methods combining data from semi-structured interviews (n = 10) and textual data from Twitter threads (n = 51). Purposeful sampling was used to achieve maximum variation in terms of serious mental illness experience, health care professions, and location of work. Search criteria for identifying relevant twitter threads followed the same sampling criteria. The data was analysed using thematic analysis. Three themes were identified: importance of support and advice, need to tackle stigmatisation, and challenges to improve mental well-being. Emotional validation of living with a mental health condition as a health care professional was an important factor for feeling supported. Organisational mismanagement and negative attitudes about mental illnesses were considered as key reasons for persistent stigmatisation. Challenges included disparities in support between the professions, high expectations by self and others, and fearing to disclose suicidal thoughts and ideation. Organisational changes are needed to better support healthcare professionals living with serious mental health conditions. Barriers to seeking support could be addressed by providing better training and toolkits for managers and colleagues.