Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

PURPOSE: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs). METHODS: A total of 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing. Data on 125 individuals with heterozygous LZTR1 variants were collected for characterizing their clinical features and the associated molecular spectrum. In vitro functional assessment was performed on a representative panel of missense variants and small in-frame deletions. RESULTS: Analysis revealed heterozygous LZTR1 variants in 6.0% (51/849) of participants, exceeding the general population prevalence. LZTR1-related CaLMs varied in number, displayed sharp or irregular borders, and were generally isolated but occasionally associated with features recurring in RASopathies. In 2 families, CaLMs and schwannomas co-occurred. The molecular spectrum mainly consisted of truncating variants, indicating loss-of-function. These variants substantially overlapped with those occurring in schwannomatosis and recessive NS. Functional characterization showed accelerated protein degradation or mislocalization, and failure to downregulate mitogen-activated protein kinase signaling. CONCLUSION: Our findings expand the phenotypic variability associated with LZTR1 variants, which, in addition to conferring susceptibility to schwannomatosis and causing dominant and recessive NS, occur in individuals with isolated multiple CaLMs.

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Legius syndrome, commonly referred to as SPRED1-related neurofibromatosis type 1-like syndrome, is a rare autosomal dominant disorder characterized by café-au-lait macules, freckling, lipomas, macrocephaly, and heterogeneous neurodevelopmental manifestations, including a different degree of learning difficulties. Although a partial clinical overlap exists with neurofibromatosis type 1 (NF1), Legius syndrome is distinguished by its genetic etiology and the absence of neurofibromas, indicating an inherent lack of tumor risk. The SPRED1 gene encodes the Sprouty-related protein with an EVH1 domain 1 (SPRED1), a negative regulator of the RAS-MAPK signaling pathway with a crucial role in cellular growth and development. Despite various genetic variants and genomic deletions associated with Legius syndrome, the full genetic spectrum of this condition remains elusive. In this study, we investigated the underlying genetic etiology in a cohort of patients presenting with typical manifestations of Legius syndrome using a custom Next Generation Sequencing (NGS) panel and Multiplex Ligation-Dependent Probe Amplification (MLPA) for NF1 and SPRED1. We identified 12 novel SPRED1 damaging variants segregating with the phenotype in all families. These rare variants affect conserved residues of the protein and are predicted damaging according to in silico tools. No clear genotype-phenotype correlations could be observed in the current cohort and previously reported patients, underscoring the heterogeneous genotype spectrum of this condition. Our findings expand the understanding of SPRED1 variants causing Legius syndrome and underscore the importance of comprehensively characterizing the genetic landscape of this disorder. Despite the absence of clear genotype-phenotype correlations, elucidating the genetic etiology of Legius syndrome is pertinent for facilitating accurate diagnosis, genetic counseling, and therapeutic interventions.

Ultra-High Adsorption Capacity of Calcium-Iron Layered Double Hydroxides for HEDP Removal through Phase Transition Processes.

Antiscalant disposal in reverse osmosis concentrate (ROC) treatment is a significant obstacle in desalination. This study investigated the adsorption performance of LDHs for removing 1-hydroxyethylidene-1,1-diphosphonic acid (HEDP). CaFe-LDH presented a specific adsorption behavior and ultrahigh adsorption capacity for HEDP, with a maximum adsorption capacity of 335.7 mg P/g (1116.5 mg HEDP/g) at pH 7.0. X-ray diffraction (XRD) demonstrated that HEDP adsorption induced a structural transformation of CaFe-LDH from a layered configuration to a highly ordered structure, leading to a noticeable phase transition. Time-of-flight secondary ion mass spectrometry (ToF-SIMS) and Raman spectroscopy further confirmed that two distinct binding modes of HEDP, relating to chelation with Ca2+ and adsorption on Fe3+ simultaneously, are connected by phosphonic acid groups (-C-PO(OH)2), forming the CaFe-HEDP complex. X-ray fluorescence (XRF) and X-ray photoelectron spectroscopy (XPS) analyses revealed that the CaFe-HEDP ternary complex exhibits a highly ordered arrangement in an oxygen-bridged framework. The construction of an oxygen-coordinated framework contributes to the incorporation of more HEDP into CaFe-LDH, leading to a well-aligned lattice in the new phase. These findings provide valuable insights into developing novel LDH-based adsorbents for removing phosphorus-containing antiscalants, establishing a sustainable approach to ROC management, and potential environmental risk reduction.

Exploring patients and caregivers needs and experiences in oncological physiotherapy: a call for collaborative care.

PURPOSE: This study explores whether the full potential of physiotherapy is reaching cancer patients and their caregivers at all stages of the oncological process, aiming to identify gaps and opportunities for improving care. METHODS: The World Cafe co-design methodology facilitated discussions among cancer patients and caregivers. This dynamic, inclusive, and engaging approach fostered diverse perspectives and deeper insights through collaborative and flexible discussions. Sessions were recorded, transcribed, and qualitatively analyzed. RESULTS: Sixteen participants were involved (eight cancer survivors and eight caregivers). The mean age of cancer survivors was 63.8 years, while the average age of caregivers was 59.3 years. Breast cancer was the most prevalent diagnosis among patients, and most caregivers had lost their family members to cancer. Analysis revealed two primary themes: "feeling cared for" and "the role of physiotherapy in the oncological process." Key findings highlight the need for more humanized healthcare, with professionals providing support through effective communication and empathy. Significant gaps were detected in both systematic referrals to physiotherapists and their integration into care teams. Testimonies highlighted the lack of knowledge about the full potential of physiotherapy in oncology, hindering access. There was also a demand for recognizing specialized oncological physiotherapists. CONCLUSIONS: These findings highlight significant gaps in physiotherapy care for cancer survivors and caregivers, including unmet needs due to the lack of information, resources, and effective communication. Future efforts should focus on increasing the visibility of physiotherapy, integrating specialized physiotherapists into oncology teams, and enhancing the emotional education of healthcare professionals to provide more humanized care.

Efficient mineralization of cadmium and arsenic by poorly crystalline CaFe-layered double hydroxide in soil: Performance and mechanism.

The co-contamination of arsenic (As) and cadmium (Cd) in the environment is of most concern. In this work, poorly crystalline CaFe-layered double hydroxide (CaFe-LDH) was synthesized with a Ca-to-Fe molar ratio of 4 to ensure effective immobilization of Cd and As in soil. The application of Ca4Fe-LDH in soil remediation demonstrated that the targeted heavy metals gradually mineralized into a relatively stable oxidizable and residual state. At a soil remediation dosage of 1.6%, the availability levels of Cd and As decreased significantly, achieving stabilization efficiencies of 99% and 85.2% respectively. Cd is trapped through isomorphic substitution and dissolution-reprecipitation of calcium (Ca) laminate, resulting in the formation of CdCaFe-LDH mineralization products. As is immobilized through ion exchange with interlayer anions, redox with Fe(III), and Fe-Cd-As complexation. Moreover, the results of the characterization and density functional theoretical (DFT) calculations demonstrate that the CdCaFe-LDH formed by isomeric substitution of Ca for Cd enhanced the adsorption of As on the (110) plane of LDH, indicating that the trap mechanism of Cd and As by Ca4Fe-LDH is synergistically promoted. Overall, the above results prove that mineralization using Ca4Fe-LDH is a promising method to remediate soils combined contaminated by both Cd and As.

Functional characterization of CCHamides and deorphanization of their receptors in the yellow fever mosquito, Aedes aegypti.

As a widely distributed anthropophilic mosquito species and vector of various arboviruses, Aedes aegypti poses a significant threat to human health on a global scale. Investigating mosquito neuropeptides allows us to better understand their physiology. The neuropeptides CCHamide1 (CCHa1) and CCHamide2 (CCHa2) along with their associated G protein-coupled receptors (CCHa1R and CCHa2R) were recently identified and studied across insects. However, expression profiles and physiological roles of CCHamides and their receptors in many other insects, including A. aegypti, remain unclear. This research aimed to quantify and localize the expression of CCHamides along with their receptors and gain insight on their physiological function in the yellow fever mosquito. RT-qPCR analysis revealed transcript abundance of CCHamides and receptors changes over development. Differential expression was also observed in tissues/organs of adult mosquitoes indicating CCHa1 and CCHa2 transcripts are enriched in the midgut, while receptors are expressed across various tissues. CCHamide immunoreactivity was observed in neurons in the brain and ventral nerve cord along with enteroendocrine cells in the posterior midgut adjacent to the midgut-hindgut junction, corroborating their transcript expression profiles. Using different mass spectrometrical approaches, presence of CCHamides were confirmed in the brain of both sexes, including the pars intercerebralis of female mosquitoes, as well as in the gut of adult mosquitoes. For chemical identification of predicted CCHamides, we analyzed brain and gut extracts by ESI-Q Exactive Orbitrap MS and resulting fragmentations confirmed CCHa1 and CCHa2 in brain and midgut samples of both male and female mosquitoes. A heterologous functional assay was used to confirm the specificity and sensitivity of the two CCHamide receptors by assessing their activation in response to diverse mosquito peptides, which confirmed CCHa1 and CCHa2 as natural ligands. Finally, using a capillary feeder (CAFE) bioassay, our results suggest that CCHa2 modulates feeding behaviour in female mosquitoes.

The 730 nm picosecond titanium sapphire laser for treatment of café-au-lait macules in all skin types.

OBJECTIVES: Café-au-lait macules (CALM) are benign birthmarks presenting as uniformly pigmented, well demarcated, brown patches that can be distressing to patients, especially when located in cosmetically sensitive areas. As with all pigmentary lesions in skin of color patients, CALMs have been particularly challenging to treat. Here we present the first case series characterizing treatment parameters and clinical outcomes utilizing the 730-nm picosecond titanium sapphire laser for the treatment of CALMs. This device provides an additional safe and effective treatment option for these challenging cases. METHODS: We performed a retrospective review of patients treated at a single institution between April 2021 and December 2023. Clinical photographs were graded by 3 outside board-certified dermatologists using a 5-point visual analog scale. RESULTS: Fourteen patients (age range: 10 months-66 years, mean age: 27.4 years, Fitzpatrick skin types II-VI) were treated for CALM on the face (11) or body (3). On average, patients received 4.3 treatments, with treatment intervals ranging from 4 to 40 weeks. Treatment remains ongoing with the 730-nm picosecond laser for eight patients. Overall, patients were rated to have a mean improvement of 26%-50%. Two patients (FST III and VI) achieved 100% clearance after 4-5 treatment sessions. Our study included four patients whose CALM were of the smooth bordered "coast of California" subtype, three of whom had a mean improvement rating of only 1%-25%. The fourth patient had near complete resolution. Follow up for these patients has ranged from 6 weeks to 1.5 years. Of the patients treated, one patient experienced transient post-inflammatory hyperpigmentation and another transient post-inflammatory hypopigmentation, while a third patient experienced mild persistent guttate hypopigmentation. Three patients experienced partial recurrence indicating that maintenance treatments may be needed in some patients. CONCLUSION: The 730-nm picosecond titanium sapphire laser is a safe and efficacious treatment option, in the right morphologic setting, to improve the cosmetic appearance of CALMs in a wide range of ages and skin types. To our knowledge, this is the first reported treatment of CALMs with picosecond lasers in FST V and VI patients. Our study also supports prior studies which have found that CALM with smooth-bordered "coast of California" morphology have a poor response to laser therapy as compared to those with jagged or ill-defined bordered "coast of Maine" morphology.

A World Café Approach to Exploring Perspectives on Diabetes Stigma in the United Kingdom.

INTRODUCTION: Research has found that a high percentage of people with diabetes experience stigma, with perceptions of stigma being significantly higher among people with Type 1 diabetes compared to those with Type 2 diabetes. These experiences of diabetes stigma can lead to psychological, behavioural and medical consequences. The aim of the current study was to explore the perceptions of diabetes stigma and propose strategies for addressing this from the perspective of key stakeholders. METHODS: A mixed methods design was used, commencing with an online qualitative survey (n = 128) and followed by a World Café (n = 11), where attendees reflected on their own experiences with stigma and discussed the survey findings. RESULTS: The survey indicated that 75% of those with Type 1 diabetes and 51% with Type 2 had experienced diabetes stigma. The World Café identified three main areas that participants felt impacted their experiences with stigma or had the potential to help improve stigma: healthcare interactions, public awareness and media representations. CONCLUSIONS: The findings supported previous research showing that diabetes stigma is prevalent among people with diabetes. The World Café was an excellent means of sharing knowledge and experiences among stakeholders, the findings of which will inform strategies to bring about change. PATIENT OR PUBLIC CONTRIBUTION: World Café is a collaborative method where stakeholders contribute to the production and analysis of data through rounds of discussion and feedback.

Recommendations to improve use and dissemination of patient versions of oncological clinical practice guidelines in Germany: results of a multi-stakeholder workshop.

BACKGROUND: Oncological patients have high information needs that are often unmet. Patient versions of oncological clinical practice guidelines (PVG) translate clinical practice guidelines into laypersons' language and might help to address patients' information needs. Currently, 30 oncological PVG have been published in Germany and more are being developed. Following a large multi-phase project on oncological PVGs in Germany, recommendations to improve use and dissemination of PVG were adopted in a multi-stakeholder workshop. METHODS: Organisations representing users of PVGs (patients, medical personnel, and multipliers), creators, initiators/funding organisations of PVGs, and organisations with methodological expertise in the development of clinical practice guidelines or in patient health information were invited to participate. The workshop included a World Café for discussion of pre-selected recommendations and structured consensus procedure for of all recommendations. Recommendations with agreement of > 75% were approved, and in case of ≤ 75% agreement, recommendations were rejected. RESULTS: The workshop took place on 24th April 2023 in Cologne, Germany. Overall, 23 people from 24 organisations participated in the discussion. Of 35 suggested recommendations 28 recommendations reached consensus and were approved. The recommendations referred to the topics dissemination (N = 13), design and format (N = 7), (digital) links (N = 5), digitalisation (N = 4), up-to-dateness (N = 3), and use of the PVG in collaboration between healthcare providers and patients (N = 3). CONCLUSION: The practical recommendations consider various perspectives and can help to improve use and dissemination of oncological PVG in Germany. The inclusion of different stakeholders could facilitate the transfer of the results into practice.

A qualitative investigation of crisis cafés in England: their role, implementation, and accessibility.

BACKGROUND: Crisis cafés (also known as crisis sanctuaries or havens) are community-based services which support people in mental health crises, aiming to provide an informal, non-clinical and accessible setting. This model is increasingly popular in the UK; however, we are aware of no peer-reviewed literature focused on this model. We aimed to investigate the aims of crisis cafés, how they operate in practice and the factors that affect access to these services and implementation of the intended model. METHODS: A qualitative approach was used. Semi-structured interviews were conducted with 12 managers of crisis cafés across England. These interviews explored managers' views on the implementation of their services, and the factors that help and hinder successful implementation. Data were analysed using Braun and Clarke's reflexive thematic approach. RESULTS: We identified five main perceived aims for crisis cafés: providing an alternative to Emergency Departments; improving access to crisis care; providing people in acute distress with someone to talk to in a safe and comfortable space; triaging effectively; and improving crisis planning and people's coping skills. Factors seen as influencing the effectiveness of crisis cafés included accessibility, being able to deliver person-centred care, relationships with other services, and staffing. These factors could both help and hinder access to care and the implementation of the intended model. There were a number of trade-offs that services had to consider when designing and running a crisis café: (1) Balancing an open-door policy with managing demand for the service through referral routes, (2) Balancing risk management procedures with the remit of offering a non-clinical environment and (3) Increasing awareness of the service in the community whilst avoiding stigmatising perceptions of it. CONCLUSIONS: Findings illustrate the aims of the crisis café model of care and factors which are influential in its implementation in current practice. Future research is needed to evaluate the efficacy of these services in relation to their aims. Crisis café service users' views, and views of stakeholders from the wider crisis care system should also be ascertained.

Dermoscopy aids in differentiating café-au-lait macules from congenital melanocytic nevi in patients with darker skin phototypes.

Dermoscopy aids in the diagnosis and management of pigmented growths and disorders of pigmentation in children. However, there is limited literature on the dermoscopic appearance of café-au-lait macules (CALMs) and congenital melanocytic nevi in patients with dark skin. We report two cases of young children with dark skin and many hyperpigmented patches in whom dermoscopy was utilized to accurately diagnose CALMs and facilitate testing for neurofibromatosis.

Jaffe-Campanacci syndrome; a case series and review of the literature.

BACKGROUND: Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it's suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1). CASE PRESENTATION: In this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both. CONCLUSION: Jaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.

Perspectives on menstrual policymaking and community-based actions in Catalonia (Spain): a qualitative study.

BACKGROUND: Menstrual research and policymaking have become imperative worldwide. It is necessary that these are informed by women and people who menstruate (PWM) alongside expert professionals and activists. METHODS: The main aim of this study was to identify and propose policies and community-based actions to address menstrual inequity and promote menstrual health in Catalonia (Spain). This study consisted of two qualitative studies: (a) 34 individual photoelicitation interviews with women and PWM, (b) a World Café study with 22 professionals and activists. Sampling for both studies was purposive and selective. Recruitment was conducted through healthcare centres, social media, key contacts, and snowball sampling techniques. Data were collected in December 2020-September 2022, and analysed using Framework Analysis. RESULTS: Participants considered the implementation of menstrual policies that address the taboo and stigma of menstruation to be crucial. They stressed the need for menstrual education, which should be integrated into formal education curricula. Participants, and especially women and PWM, highlighted the need to improve the access and quality of healthcare services, so that the menstrual cycle and menstruation are seen as health indicators. Health professionals should encourage agentic informed decisions, hence why both participant groups considered menstrual health education amongst health professionals to be pivotal. Taking action to improve the access and affordability of menstrual products was also imperative for participants, especially for socioeconomically vulnerable populations. Participants agreed on guaranteeing fully equipped menstrual management facilities, and and professionals discussed gender-neutral and sex-segregated bathrooms. Workplace menstrual policies to accommodate and ensure menstrual self-care were also suggested. CONCLUSIONS: Our study highlights the need for multi-dimensional menstrual policies. These should include actions to address menstrual taboo and stigma, to promote menstrual education that goes beyond the hegemonic biomedical prism, to improve the access and quality of menstrual health services, along with policies ensuring adequate menstrual management facilities in public spaces and the access to menstrual products. Policymaking should also focus on how to ensure menstrual management and care in workplaces. Menstrual policies and community-based actions should be framed within intersectionality, to consider how societal structures of power and oppression influence menstrual experiences.

RESUMEN: INTRODUCCIóN: Siendo la investigación y la implementación de políticas menstruales imprescindibles, es necesario que estos procesos estén informados por mujeres y personas que menstrúan (PM), así como por profesionales expertas y activistas. MéTODOS: El objetivo principal de este estudio fue identificar y proponer políticas y acciones comunitarias para abordar la inequidad menstrual y promover la salud menstrual en Cataluña (España). Este estudio consistió en dos estudios cualitativos: (a) 34 entrevistas individuales de fotoelicitación con mujeres y PM, (b) un World Café con 22 profesionales y activistas. El muestreo para ambos estudios fue intencional y selectivo. El reclutamiento se realizó a través de centros de salud, redes sociales, contactos clave y técnicas de bola de nieve. Los datos se recogieron entre diciembre de 2020 y septiembre de 2022 y se analizaron mediante Framework Analysis. RESULTADOS: Las participantes consideraron crucial la implementación de políticas menstruales para abordar el tabú y el estigma menstrual. Destacaron la necesidad de una educación menstrual, que debería integrarse en los currículums escolares. Las participantes, y especialmente las mujeres y PM, resaltaron la necesidad de mejorar el acceso y la calidad de los servicios de salud, de manera que el ciclo menstrual y la menstruación sean consideradas indicadores de salud. Mencionaron que el personal sanitario debe fomentar las decisiones informadas, de ahí que ambos grupos de participantes consideraran fundamental la educación sobre la salud menstrual entre los profesionales de la salud. También, para las participantes fue imperativo asegurar el acceso y asequibilidad de productos menstruales, especialmente para las poblaciones socioeconómicamente vulnerabilizadas. Las participantes estuvieron de acuerdo en la necesidad de garantizar espacios equipadas para el manejo menstrual, y se llevaron a cabo debates entre las profesionales sobre los baños inclusivos y segregados por sexo. También se sugirieron y debatieron políticas menstruales en entornos laborales, para adaptar y garantizar el autocuidado menstrual. CONCLUSIONES: Nuestro estudio destaca la necesidad de políticas menstruales multidimensionales. Estas deberían incluir acciones para abordar el tabú y el estigma menstrual, promover una educación menstrual que vaya más allá de la perspectiva biomédica hegemónica, mejorar el acceso y la calidad de los servicios de salud menstrual, junto con políticas para garantizar la disponibilidad de instalaciones adecuadas para el manejo menstrual en espacios públicos, así como el acceso a productos menstruales. La creación de políticas también debería centrarse en cómo garantizar el manejo y los cuidados menstruales en entornos laborales. Finalmente, estas políticas menstruales y acciones comunitarias deben enmarcarse desde la interseccionalidad, para considerar cómo las estructuras y poderes sociales operan e influyen en las experiencias menstruales.

Real-world environmental enrichment rehabilitation paradigm in people with severe traumatic brain injury: a pilot feasibility study.

BACKGROUND: The use of Environmental Enrichment (EE) has been widely studied in animal models. However, the application of the same in humans is limited to rehabilitation settings. OBJECTIVE: To investigate the feasibility of a community-based EE paradigm in adults with brain injury. METHODS: Six individuals diagnosed with traumatic brain injury enrolled in the study. The Go Baby Go Café instrumented with a body weight harness system, provided physical and social enrichment as participants performed functional tasks for 2 hours, three times a week, for 2 months. Feasibility and safety outcomes were recorded throughout sessions. Clinical measures including 10-meter walk, timed up and go, jebsen hand function, 6-minute walk, and trail making tests were obtained pre and post intervention. RESULTS: All participants completed the study. The attendance was 100% and adherence was 87%. Positive changes in clinical measures were statistically significant for the timed up and go (p = 0.0175), TUG-cognitive (p = 0.0064), 10-meter walk (p = 0.0428), six-minute walk (p = 0.0196), TMT-A (p = 0.034). Changes in JHFT were not significant (p = 0.0506), with one subject recording values counter to the trend. CONCLUSION: The Café was a comprehensive EE-based intervention that was feasible, safe, and has the potential to enhance motor and cognitive function in individuals with brain injury.

A novel approach to clinical thinking training for medical students: the combined World Café discussion and case-based learning experience introduction.

It is essential for modern medical students to continuously enhance their clinical thinking abilities. This study aims to evaluate the efficacy of the combined World Café discussion and case-based learning (CBL) approach within the clinical thinking training course. The clinical thinking training course incorporated the combined World Café discussion and CBL approach. The assessment of the accuracy and rationality of clinical symptoms, medical examination, pathological processes, diagnostic results, diagnostic basis, and drug use was conducted through case-related queries. Feedback from students and instructors regarding the teaching content, teaching process, and teaching effect was gathered through questionnaires. The findings indicate that the students achieved high marks in all assessed areas, including clinical symptoms, medical examination, pathological processes, diagnostic results, diagnostic basis, and drug use. The feedback from students and instructors on the teaching content, teaching process, and teaching effect was positive. Medical educators can use our findings to implement the combined World Café discussion and CBL mode to enhance student engagement.NEW & NOTEWORTHY The combined World Café discussion and case-based learning approach was implemented in the clinical thinking training course. Students' scores for clinical symptoms, medical examination, pathological process, diagnostic results, diagnostic basis, and drug use were all excellent. Feedback from both students and teachers on the teaching content, teaching process, and teaching effect was positive.

Improving access and quality of primary healthcare through women and adolescents' user committees: A mixed-methods case study in Kinshasa, Democratic Republic of the Congo.

BACKGROUND: Patient engagement is seen as a fundamental strategy for achieving quality patient-centred care, especially in community-based primary healthcare. Despite growing interest in patient engagement in Sub-Saharan Africa, few patient engagement initiatives have been identified, and those often are limited to lower levels of engagement, in participation in health research or in health system improvement. With the aim of giving a voice to under-represented community groups in healthcare governance, the Access to Health services in Kinshasa (ASSK) project supported the implementation of primary health services user committees in the Democratic Republic of the Congo, designed to enable the representation of two user groups with specific unmet sexual and reproductive health (SRH) needs: women and adolescents. AIMS AND METHODS: Using a mixed-method case study design combining quantitative secondary data (from the national health management information system-DHIS2) and qualitative data from two research World Café (WC1: Women user committees (WUC) n = 55; WC2: Adolescents user committee (AUC) n = 63), this paper looks at the implementation facilitators and barriers, and at the results of this initiative. RESULTS: Women and adolescent members of the user committees highlighted that their participation resulted in increased knowledge of SRH and their related rights, as well as in their 'soft skills' such as communication and leadership. In addition, participants reported greater transparency and accountability on the part of the community primary health centres (e.g. by displaying fees for procedures to counter over-billing). Ultimately, WUC and AUC were associated with improved health practices in the community such as increased use of SRH services (increase of 613% for Makala and 160% for Maluku II), including adolescent family planning (increase of 320% for Makala and 12% for Maluku II) and assisted childbirth for women15-49 years old (increase of 283% for Makala and 23% for Maluku II)). CONCLUSIONS: Patient user committees for specific marginalised or under-represented groups appear to be an effective way of improving the quality of primary health care services. Further research is needed to better understand how to maximise its potential.

Nurse-led World Café approach in promoting interprofessional collaborative behaviors and learning engagement among healthcare professionals.

Effective interprofessional collaboration practice (IPCP) promotes healthcare outcomes but is often hindered by poor communication. Traditional teaching methods with limited interdisciplinary interactions may not effectively foster IPCP behaviors. This study evaluated the effectiveness of nurse-led World Cafe (NWC) approach in promoting IPCP behaviors and learning engagement. Seventy-six healthcare professionals (38 in each group) participated in this quasi-experimental study. Data were collected before, one-week, and four-week post-intervention, using Lee's (2016) Interprofessional Collaborative Practice Behavior Inventory (IPCPBI) and Ciou's (2020) Learning Engagement Scale. Five medical technologists in the control group were excluded from data analysis to ensure group equivalence. Before the intervention, there were no significant differences in IPCPBI between groups. One week post-intervention, the experimental group scored higher in IPCPBI, yet lacked statistical significance (p > .05). Four weeks post-intervention, the experimental group significantly improved in IPCPBI (p < .05). While no statistically significance was found in learning engagement between groups, the experimental group scored significantly higher in the active engagement sub-domain (p < .05). The NWC approach boosted IPCP behaviors and learning engagement, fostering a collaborative learning environment that improves outcomes through interdisciplinary interactions. Healthcare settings could benefit from adopting the NWC approach to enhance clinicians' IPCP competency.

[Neurofibromatosis type 2 in the otorhinolaryngological practice]. / Neirofibromatoz 2-go tipa v praktike vracha-otorinolaringologa.

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disease (frequency 1 in 25-90 000) characterized by the formation of tumors of the central nervous system due to a mutation in the NF2 gene on chromosome 22q12. Bilateral vestibular schwannomas are recognized as absolute diagnostic criteria of NF2 and occur in 95% of patients, are accompanied by hearing impairment, manifest at the age of 18-24 years. Skin manifestations can precede vestibular schwannomas for several years and predict the course of the disease: neurofibromas, cafe-au-lait macules, hypopigmented spots, recently described mesh capillary malformations. Despite the benign nature of schwannomas, they can lead to hearing loss, vestibular dysfunction, facial nerve paralysis, gait disorders, pain and convulsions, there is a risk of early death from compression of the brain stem. The probability of progressive hearing loss is partly determined by the type of mutation. We described a clinical case of NF2 in a 21-year-old patient with bilateral vestibular schwannomas without hearing loss, whose skin examination by ENT specialist revealed this disease. The importance of the presented observation is that the doctor should assume neurofibromatosis type 2 in a young patient with bilateral vestibular schwannomas. It is necessary to undertake a further examination of this patient, including: skin examination for the identification of characteristic neurofibromas and cafe-au-lait macules, consultation with an ophthalmologist, neurologist, MRI of the brain and spinal cord with contrast, genetic analysis - for timely initiation of therapy that prevents hearing loss and vestibular disorders.

Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1.

Aneurysmal coronary artery disease (ACAD) has been reported rarely in patients with neurofibromatosis type 1 (NF1), mostly in adults. We report on a female newborn affected by NF1 with ACAD disclosed during investigation for an abnormal prenatal ultrasound along with a review of the previously reported cases. The proposita had multiple café-au-lait spots and had no cardiac symptoms. Echocardiography, and cardiac computed tomography angiography confirmed aneurysms on the left coronary artery, left anterior descending coronary artery, and of the sinus of Valsalva. Molecular analysis detected the pathogenic variant NM_001042492.3(NF1):c.3943C>T (p.Gln1315*). Literature findings on ACAD in NF1 indicated that this mostly occurs in males, showing predilection for the development of aneurysms at the left anterior descending coronary artery, and manifesting predominantly as acute myocardial infarction, inclusively in teenagers, though it may be also asymptomatic as in our case. This report documents the first case of ACAD in a patient with NF1 diagnosed at birth, emphasizing that its early diagnosis is essential to prevent potential life-threatening events attributable directly to coronary lesions.

Disorders of hyperpigmentation. Part I. Pathogenesis and clinical features of common pigmentary disorders.

Disorders of hyperpigmentation are common and, depending on the extent and location of involvement, can affect the quality of life and pose a significant psychologic burden for patients. Given the similarities in presentation of the various causes of hyperpigmentation, it is often difficult to elucidate the etiology of these conditions, which is important to guide management. Furthermore, certain disorders, such as lichen planus pigmentosus and ashy dermatosis, have similar clinical and/or histologic presentations, and their classification as distinct entities has been debated upon, leading to additional confusion. In this review, the authors selected commonly encountered disorders of hyperpigmentation of the skin, subdivided into epidermal, dermal, or mixed epidermal-dermal disorders based on the location of pigment deposition, along with disorders of hyperpigmentation of the mucosa and nails. Melanocytic nevi, genetic disorders, and systemic causes of hyperpigmentation were largely excluded and considered to be outside the scope of this review. We discussed the pathogenesis of hyperpigmentation as well as the clinical and histologic features of these conditions, along with challenges encountered in their diagnosis and classification. The second article in this 2-part continuing medical education series focuses on the medical and procedural treatments of hyperpigmentation.