An investigation into the current perceptions of Irish Radiographers regarding patient-practitioner communication.

INTRODUCTION: Many of the tasks performed by radiographers rely on effective communication with patients. This study aims to evaluate radiographers' experiences communicating with patients to determine what communication skills they believe they have, challenges they encounter and any familiarity with communication tools. It also assesses their willingness to accept further training and utilise recognised scripted communication tools, such as AIDET (Acknowledge, Introduce, Duration, Explanation and Thank you). METHODS: Data were collected using an online survey deployed using the MS Forms platform. The survey consisted of 42 questions: 12 qualitative 'open-ended' questions and 30 'close-ended' quantitative questions. The survey remained open between March and May 2022. Quantitative data were analysed using descriptive statistics and qualitative responses using thematic content analysis. Cross distribution analysis, basic percentages, and graphic bar charts were used for quantitative data analysis. RESULTS: One hundred and nine radiographers completed the questionnaire. Quantitative analysis found that 84 % (n = 87) of radiographers had not received additional post-qualification training in patient communication. Five communication themes emerged from the thematic analysis; (1) Expectations, (2) Education, (3) Improvements, (4) Errors, and (5) Communication Tools. The scripted communication tool AIDET, according to 86 % (n = 89) of respondents, was perceived to be potential helpful in improving radiographer-patient interactions. CONCLUSION: Radiographers do not believe they have received adequate training for communicating with patients and would like to receive additional training and education. AIDET could be a useful communication tool as a starting guide for less experienced radiographers. There is a need for further studies that explore the use and effectiveness of scripted communication tools in radiographers' communications skills. In addition, additional post-registration training opportunities need to be available for radiographers in patient communication.

Listening Effort, An Overview of App Validation and Testing by the Audiology 4 all Project.

OBJECTIVE: To describe an application's development and validation process that aims to track hearing difficulties in adverse environments (a listening effort application). DESIGN: 71 subjects were evaluated, divided into two groups: 30 subjects aged between 18 and 30, and 41 subjects aged between 40 and 65. All subjects had European Portuguese as their native language; the Montreal Cognitive Assessment (MOCA) scored above 24, and all could read and write. All subjects performed the intelligibility test in noise and the test of listening effort. The two tests were randomly applied in the free field in the audiometric cabin and the application. RESULTS: There were no statistically significant differences between the results of the two methods (p>0.05). For the group aged between 40 and 65 years old, the ROC curve showed that intelligibility inferior to 68.5% and the number of correct answers lower than 1,5 in the listening effort test are the optimal cut-off for referral to further management. Both tests showed low sensitivity and specificity regarding individuals between 18 and 30 years old, indicating that the application is inappropriate for this age group. CONCLUSIONS: The application is valid and can contribute to the screening and self-awareness of listening difficulties in middle age, with a reduction in the prevalence of dementia soon.

Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome.

Turnpenny-Fry Syndrome (TPFS) is a rare genetic disorder characterized by a severe developmental delay and a distinctive facial gestalt. It is caused by mutations in the Polycomb Group Ring Finger Protein 2 (PCGF2) gene, which is also known to play a role in numerous tumor types. Up to date, there have been no published case reports of patients with TPFS and concomitant malignancies. The present case describes the clinical evaluation and follow-up of a male infant with severe global developmental delay (GDD) and a distinctive phenotype. At 4 years of age, clinical exome sequencing confirmed the diagnosis of TPFS. Posteriorly, at 5 years of age, the patient was also diagnosed with T-cell acute lymphoblastic leukemia (ALL). Given the scarce literature regarding this syndrome, the authors expect that this case report will provide valuable information that could improve the follow-up of patients with TPFS. Furthermore, this case highlights the necessity for the appropriate diagnosis of developmental disorders, to ensure adequate care, surveillance of comorbidities and proper genetic counselling.

Fatigue and Mental Illness Symptoms in Long COVID: Protocol for a Prospective Cohort Multicenter Observational Study.

BACKGROUND: The aftermath of the COVID-19 pandemic continues to affect millions worldwide, resulting in persisting postvirus complaints and impacting peoples' quality of life. Long COVID, characterized by lingering symptoms like fatigue and mental illness, can extend beyond a few months, necessitating further research to understand its implications. OBJECTIVE: This study aims to quantify the degree of physical and psychological fatigue in patients following COVID-19 infection and examine its correlation with mental health disorders. METHODS: Using a consecutive nonrandom sampling technique, we will conduct a prospective cohort multicenter observational study in 5 Portuguese hospitals. Symptomatic adult patients with previous COVID-19 attending follow-up consultations will be enrolled. We will include patients who had mild, moderate, and severe acute disease. We will assess clinical outcomes related to COVID-19, including the type of respiratory support such as high-flow nasal cannula, noninvasive ventilation, and invasive mechanical ventilation. The exclusion criteria will include previous severe psychiatric disorders confirmed by a psychiatrist; refusal or inability to respond to the questionnaire; concomitant neurological disorder; persistent fatigue symptoms during the 6 months before infection; and the need for invasive mechanical ventilation during COVID-19 infection due to a high prevalence of postintensive care syndrome. Our primary outcome is the prevalence of fatigue in patients with post-COVID-19 depression and/or anxiety, as measured by the Chalder Fatigue Scale (CFQ-11) and the Hospital Anxiety and Depression Scale (HADS). The secondary outcomes will include an assessment of health-related quality of life via the EQ-5D questionnaire and an exploration of the prevalence of symptoms of posttraumatic stress disorder (PTSD) using the 14-item Posttraumatic Stress Scale (PTSS-14). We will also examine the association between mental health symptoms and the severity of acute COVID-19. The post-COVID-19 data will be collected at least 6 months after the positive test and no longer than 9 months during the clinical appointment. RESULTS: We expect our multicenter study on patients post COVID-19 to reveal a significant link between mental illness symptoms and both physical and psychological fatigue. Patients with heightened depression and anxiety may report increased levels of fatigue. Additionally, we expect to find persistent PTSD symptoms in a subset of participants, indicating the enduring psychological impact of the virus. CONCLUSIONS: This study may underscore the need for integrated care addressing physical and mental health in patients post COVID-19. The observed connections emphasize the importance of considering mental well-being for long-term health outcomes. Despite study limitations, our findings contribute valuable insights for future treatment strategies and highlight the necessity for comprehensive mental health support in post-COVID-19 care. This research provides valuable insights into the mental health implications of COVID-19 and its impact on post-COVID-19 fatigue and the overall well-being of affected individuals. TRIAL REGISTRATION: ClinicalTrials.gov NCT05323318; https://clinicaltrials.gov/study/NCT05323318. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/51820.

Strategies to improve the magnetic resonance imaging experience for autistic individuals: a cross-sectional study exploring parents and carers' experiences.

BACKGROUND: Autistic individuals encounter numerous barriers in accessing healthcare, including communication difficulties, sensory sensitivities, and a lack of appropriate adjustments. These issues are particularly acute during MRI scans, which involve confined spaces, loud noises, and the necessity to remain still. There remains no unified approach to preparing autistic individuals for MRI procedures. METHODS: A cross-sectional online survey was conducted with parents and carers of autistic individuals in the UK to explore their experiences, barriers, and recommendations concerning MRI scans. The survey collected demographic information and experiential accounts of previous MRI procedures. Quantitative data were analysed descriptively, while key themes were identified within the qualitative data through inductive thematic analysis. RESULTS: Sixteen parents/carers participated. The majority reported difficulties with communication, inadequate pre-scan preparation, and insufficient adjustments during MRI scans for their autistic children. Key barriers included an overwhelming sensory environment, radiographers' limited understanding of autism, and anxiety stemming from uncertainties about the procedure. Recommended improvements encompassed accessible communication, pre-visit familiarisation, noise-reduction and sensory adaptations, staff training on autism, and greater flexibility to meet individual needs. CONCLUSIONS: There is an urgent need to enhance MRI experiences for autistic individuals. This can be achieved through improved staff knowledge, effective communication strategies, thorough pre-scan preparation, and tailored reasonable adjustments. Co-producing clear MRI guidelines with the autism community could standardise sensitive practices. An individualised approach is crucial for reducing anxiety and facilitating participation. Empowering radiographers through autism-specific education and incorporating insights from autistic individuals and their families could transform MRI experiences and outcomes.

Artificial Intelligence-Assisted Detection of Osteoporotic Vertebral Fractures on Lateral Chest Radiographs in Post-Menopausal Women.

Osteoporotic vertebral fractures (OVFs) are often not reported by radiologists on routine chest radiographs. This study aims to investigate the clinical value of a newly developed artificial intelligence (AI) tool, Ofeye 1.0, for automated detection of OVFs on lateral chest radiographs in post-menopausal women (>60 years) who were referred to undergo chest x-rays for other reasons. A total of 510 de-identified lateral chest radiographs from three clinical sites were retrieved and analysed using the Ofeye 1.0 tool. These images were then reviewed by a consultant radiologist with findings serving as the reference standard for determining the diagnostic performance of the AI tool for the detection of OVFs. Of all the original radiologist reports, missed OVFs were found in 28.8% of images but were detected using the AI tool. The AI tool demonstrated high specificity of 92.8% (95% CI: 89.6, 95.2%), moderate accuracy of 80.3% (95% CI: 76.3, 80.4%), positive predictive value (PPV) of 73.7% (95% CI: 65.2, 80.8%), and negative predictive value (NPV) of 81.5% (95% CI: 79, 83.8%), but low sensitivity of 49% (95% CI: 40.7, 57.3%). The AI tool showed improved sensitivity compared with the original radiologist reports, which was 20.8% (95% CI: 14.5, 28.4). The new AI tool can be used as a complementary tool in routine diagnostic reports for the reduction in missed OVFs in elderly women.

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges.

INTRODUCTION: Inborn errors of metabolism (IEM) are genetic diseases involving congenital disorders of enzyme activities. Most follow Mendelian autosomal recessive inheritance and few follow mitochondrial inheritance. In many cases, after the birth of an affected child parents discover that have been the carriers for the condition and worry about the risk of recurrence in future offspring. Preimplantation genetic testing (PGT) can analyze embryos before their transfer to the uterus and prevent the transmission of hereditary conditions to descendants, however this procedure is of limited value in mtDNA conditions. METHODS: The list of diseases currently approved for PGT were reviewed. The process for eligibility, was as for the Comissão Nacional Procriação Medicamente Assistida (CNPMA), of Portugal (PT). Review of international practices for Assisted Reproductive Techniques (ART) in IEM was carried out. RESULTS: As of 07.2022, 23 IEM diseases associated with deleterious variants in nDNA were approved for PGT in PT. Couples at risk for conditions not included in the list can solicit an evaluation from an expert committee, after a medical genetics consultation. To qualify for approval, diseases must cause significant suffering and/or premature death. Due to a greater number of solicitations many more IEM conditions have been approved for PGT across the world. ART for mtDNA is not available in PT. International expert centers include PGT for specific well documented variants and mitochondrial donation. CONCLUSION: PGT is a reliable approach to reduce the risk of transmission of a genetic condition to the offspring. The list of IEM disorders currently accepted for this technique in Portugal are small, but it is expanding, as many more diseases fit the necessary criteria. While appealing in theory, low success rates coupled with limited availability can be discouraging for patients. Genetic counselling is of paramount importance after the diagnosis of IEM diseases. It is important for both clinicians and patients to be made aware of the available reproductive options and their limitations.

A scoping review of interpretability and explainability concerning artificial intelligence methods in medical imaging.

PURPOSE: To review eXplainable Artificial Intelligence/(XAI) methods available for medical imaging/(MI). METHOD: A scoping review was conducted following the Joanna Briggs Institute's methodology. The search was performed on Pubmed, Embase, Cinhal, Web of Science, BioRxiv, MedRxiv, and Google Scholar. Studies published in French and English after 2017 were included. Keyword combinations and descriptors related to explainability, and MI modalities were employed. Two independent reviewers screened abstracts, titles and full text, resolving differences through discussion. RESULTS: 228 studies met the criteria. XAI publications are increasing, targeting MRI (n = 73), radiography (n = 47), CT (n = 46). Lung (n = 82) and brain (n = 74) pathologies, Covid-19 (n = 48), Alzheimer's disease (n = 25), brain tumors (n = 15) are the main pathologies explained. Explanations are presented visually (n = 186), numerically (n = 67), rule-based (n = 11), textually (n = 11), and example-based (n = 6). Commonly explained tasks include classification (n = 89), prediction (n = 47), diagnosis (n = 39), detection (n = 29), segmentation (n = 13), and image quality improvement (n = 6). The most frequently provided explanations were local (78.1 %), 5.7 % were global, and 16.2 % combined both local and global approaches. Post-hoc approaches were predominantly employed. The used terminology varied, sometimes indistinctively using explainable (n = 207), interpretable (n = 187), understandable (n = 112), transparent (n = 61), reliable (n = 31), and intelligible (n = 3). CONCLUSION: The number of XAI publications in medical imaging is increasing, primarily focusing on applying XAI techniques to MRI, CT, and radiography for classifying and predicting lung and brain pathologies. Visual and numerical output formats are predominantly used. Terminology standardisation remains a challenge, as terms like "explainable" and "interpretable" are sometimes being used indistinctively. Future XAI development should consider user needs and perspectives.

Responsible AI practice and AI education are central to AI implementation: a rapid review for all medical imaging professionals in Europe.

Artificial intelligence (AI) has transitioned from the lab to the bedside, and it is increasingly being used in healthcare. Radiology and Radiography are on the frontline of AI implementation, because of the use of big data for medical imaging and diagnosis for different patient groups. Safe and effective AI implementation requires that responsible and ethical practices are upheld by all key stakeholders, that there is harmonious collaboration between different professional groups, and customised educational provisions for all involved. This paper outlines key principles of ethical and responsible AI, highlights recent educational initiatives for clinical practitioners and discusses the synergies between all medical imaging professionals as they prepare for the digital future in Europe. Responsible and ethical AI is vital to enhance a culture of safety and trust for healthcare professionals and patients alike. Educational and training provisions for medical imaging professionals on AI is central to the understanding of basic AI principles and applications and there are many offerings currently in Europe. Education can facilitate the transparency of AI tools, but more formalised, university-led training is needed to ensure the academic scrutiny, appropriate pedagogy, multidisciplinarity and customisation to the learners' unique needs are being adhered to. As radiographers and radiologists work together and with other professionals to understand and harness the benefits of AI in medical imaging, it becomes clear that they are faced with the same challenges and that they have the same needs. The digital future belongs to multidisciplinary teams that work seamlessly together, learn together, manage risk collectively and collaborate for the benefit of the patients they serve.

Toward Autism-Friendly Magnetic Resonance Imaging: Exploring Autistic Individuals' Experiences of Magnetic Resonance Imaging Scans in the United Kingdom, a Cross-Sectional Survey.

Background: Autistic individuals might undergo a magnetic resonance imaging (MRI) examination for clinical concerns or research. Increased sensory stimulation, lack of appropriate environmental adjustments, or lack of streamlined communication in the MRI suite may pose challenges to autistic patients and render MRI scans inaccessible. This study aimed at (i) exploring the MRI scan experiences of autistic adults in the United Kingdom; (ii) identifying barriers and enablers toward successful and safe MRI examinations; (iii) assessing autistic individuals' satisfaction with MRI service; and (iv) informing future recommendations for practice improvement. Methods: We distributed an online survey to the autistic community on social media, using snowball sampling. Inclusion criteria were: being older than 16, have an autism diagnosis or self-diagnosis, self-reported capacity to consent, and having had an MRI scan in the United Kingdom. We used descriptive statistics for demographics, inferential statistics for group comparisons/correlations, and content analysis for qualitative data. Results: We received 112 responses. A total of 29.6% of the respondents reported not being sent any information before the scan. Most participants (68%) confirmed that radiographers provided detailed information on the day of the examination, but only 17.1% reported that radiographers offered some reasonable environmental adjustments. Only 23.2% of them confirmed they disclosed their autistic identity when booking MRI scanning. We found that quality of communication, physical environment, patient emotions, staff training, and confounding societal factors impacted their MRI experiences. Autistic individuals rated their overall MRI experience as neutral and reported high levels of claustrophobia (44.8%). Conclusion: This study highlighted a lack of effective communication and coordination of care, either between health care services or between patients and radiographers, and lack of reasonable adjustments as vital for more accessible and person-centered MRI scanning for autistic individuals. Enablers of successful scans included effective communication, adjusted MRI environment, scans tailored to individuals' needs/preferences, and well-trained staff.

Why is this an important issue?: Magnetic resonance imaging (MRI) is an examination that shows human anatomy and may explain the causes of symptoms. Autistic people may need MRI scans for various reasons, such as low back pain, headaches, accidents, or epilepsy. They have known sensitivities to sound, light, smell, or touch and increased anxiety, so the narrow, loud, isolating, unfamiliar MRI environment may be overwhelming to them. If MRI scans are, for these reasons, inaccessible, many autistic people will have to live with long-standing conditions, pain, or other symptoms, or have delayed treatment, with impact on their quality of life, and life expectancy. What was the purpose of this study?: We tried to understand how autistic people perceive MRI examinations, things that work, and the challenges they face. We also asked for their suggestions to improve practice and accessibility. What did we do?: We distributed an online questionnaire to autistic adults through social media. We analyzed the data using appropriate statistical and text analysis methods. What were the results of the study?: We received 112 responses. Autistic people rated their overall MRI experience as average. Nearly a third (29.6%) reported they were not sent any information before MRI, and only 17.1% reported that radiographers offered some reasonable environmental adjustments. Most participants (68%) reported that radiographers provided detailed information on the day of the scan. Only 23.2% of them disclosed their autistic identity when booking MRIs. We found that quality of communication, physical environment, patient emotions, staff training, stigma, and timely autism diagnosis impacted their MRI experiences. What do these findings add to what was already known?: Autistic people MRI scan experiences are at the heart of this project. Our project shows that MRI for common symptoms is often inaccessible by autistic people. We should improve the MRI environment, adjust communication format/content for them, and deliver person-centered care in MRI. Health care professionals should receive relevant training, to understand the challenges autistic people might face and better support them in MRI scanning. What are potential weaknesses in the study?: The pandemic has impacted participant recruitment; therefore, the results of this sample may not reflect the full impact on the wider autistic population or adequately represent the autistic community, due to small size and including only people who could consent.These results come from different centers, so there is a lot of variation in the use of MRI equipment. How will these findings help autistic adults now or in the future?: We outline the main challenges associated with MRI, so autistic adults and their families/carers understand more of what they could expect in future examinations; hopefully, researchers and scanner manufacturers will try to tackle these challenges to make MRI scans truly accessible for autistic people.We shared this knowledge with stakeholders to develop guidelines and started using it in training. We want to ensure that MRI is person-centered and more accessible for autistic patients.

Plain radiography has a role to play in current clinical practice in Western Switzerland.

AIM: The aim of the study was to investigate the current role of conventional radiography examinations in Western Switzerland and the main clinical indications required to justify the use of this imaging examination. METHODS: Ethical approval was obtained from Vaud Ethics committee (Ref 2020-00311). An online questionnaire was specifically designed and implemented on the data collection tool LimeSurvey composed of two parts: a) to characterise the participants' profile and their institutions and b) 169 projections for the different anatomical area (upper and lower limbs, pelvis, skull, spine, thorax, abdomen) were presented to collect data about the frequency and main clinical indications. Statistical analysis was performed using the software IBM SPSS® (Statistical Package for the Social Sciences) version 26. RESULTS: Radiographers from 60% (26/43) of the invited institutions participated in this survey, mainly from Vaud region. The upper and lower limbs were the most commonly examined by using conventional radiography mainly for trauma and degenerative disorders. The thorax was also an anatomical area commonly explored by X-rays, so were the spine (cervical and lumbar lateral). The skull radiographs were rarely performed in clinical practice and some of the projections were not being used, namely Hirtz, Tangential Nose Bones, Worms and Caldwell's views. CONCLUSIONS: Plain radiography is being used in clinical practice mainly for appendicular skeleton studies and for trauma and degenerative pathologies. Adaptations in radiographers' education and training and other healthcare professionals are needed to provide the judicious use of data that radiographs can give to better manage the patients' imaging pathway.

Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report.

Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD43 diagnosis. Our patient's phenotype overlaps with other MRD43 descriptions in the literature. Unlike previously reported cases, where the condition was almost invariably de novo, the healthy mother in this case presented mosaicism for the pathogenic variant. Thus, the recurrence risk increased significantly from 1% to up to 50%. The description of a variant inherited for MDR43 is singular in the literature and this description highlights the importance of parental studies for accurate genetic counseling, particularly for family planning.

Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk.

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder caused by TIMM8A loss of function. It is characterized by sensorineural hearing loss in childhood, progressive optic atrophy in early adulthood, early onset dementia and psychiatric symptoms of variable expressivity. We present a family with 4 affected males, explore age-related and interfamilial variability and review the literature. Case report: A 31 years-old male developed psychiatric symptoms at age 18 and presented early onset dementia. Sensorineural hearing loss had been diagnosed in childhood. At 28yo, he developed dysarthria, dysphonia, dysmetria, limb hyperreflexia, dystonia, and spasticity following an acute encephalopathic crisis. WES revealed a hemizygous novel likely pathogenic variant in TIMM8A, c.45_61dup p.(His21Argfs*11), establishing the diagnosis of MTS. Genetic counseling of the family allowed the diagnosis of three other symptomatic relatives -3 nephews (11yo and two 6yo twins), children of a carrier sister. The oldest nephew had been followed since 4yo due to speech delay. Sensorineural hearing loss was diagnosed at 9yo, and hearing aids were prescribed. The two other nephews were monozygotic twins, and both had unilateral strabismus. One of the twins had macrocephaly and hypoplasia of the anterior temporal lobe, as disclosed by an MRI performed due to febrile seizures. Both had developmental delays, with the language being the most affected area. Their audiograms confirmed hearing loss. All three nephews were hemizygous for the familial TIMM8A variant. Discussion: Hearing loss, an early sign of MTS due to auditory neuropathy, can often be overlooked until more severe features of the disorder manifest. Recurrence risk is high for female carriers, and reproductive options should be offered. Early monitoring of hearing and vision loss and neurological impairment in MTS patients is mandatory since early interventions may positively impact their development. This family showcases the importance of performing a timely etiological investigation of hearing loss and its impact on genetic counseling.

Artificial intelligence to support person-centred care in breast imaging - A scoping review.

AIM: To overview Artificial Intelligence (AI) developments and applications in breast imaging (BI) focused on providing person-centred care in diagnosis and treatment for breast pathologies. METHODS: The scoping review was conducted in accordance with the Joanna Briggs Institute methodology. The search was conducted on MEDLINE, Embase, CINAHL, Web of science, IEEE explore and arxiv during July 2022 and included only studies published after 2016, in French and English. Combination of keywords and Medical Subject Headings terms (MeSH) related to breast imaging and AI were used. No keywords or MeSH terms related to patients, or the person-centred care (PCC) concept were included. Three independent reviewers screened all abstracts and titles, and all eligible full-text publications during a second stage. RESULTS: 3417 results were identified by the search and 106 studies were included for meeting all criteria. Six themes relating to the AI-enabled PCC in BI were identified: individualised risk prediction/growth and prediction/false negative reduction (44.3%), treatment assessment (32.1%), tumour type prediction (11.3%), unnecessary biopsies reduction (5.7%), patients' preferences (2.8%) and other issues (3.8%). The main BI modalities explored in the included studies were magnetic resonance imaging (MRI) (31.1%), mammography (27.4%) and ultrasound (23.6%). The studies were predominantly retrospective, and some variations (age range, data source, race, medical imaging) were present in the datasets used. CONCLUSIONS: The AI tools for person-centred care are mainly designed for risk and cancer prediction and disease management to identify the most suitable treatment. However, further studies are needed for image acquisition optimisation for different patient groups, improvement and customisation of patient experience and for communicating to patients the options and pathways of disease management.

A child with CARD14-associated papulosquamous eruption (CAPE) successfully treated with ustekinumab.

CARD14-associated papulosquamous eruption (CAPE) is a rare inflammatory skin eruption that can have features of psoriasis, pityriasis rubra pilaris, and erythroderma. This skin condition is known for its resistance to topical or conventional systemic therapies. Successful treatment of CAPE with anti-IL-12/IL-23 and IL-17 inhibitors has been reported. We present a case of a 2-year-old girl with CAPE who was successfully treated with ustekinumab.

Revisiting Paraphrenia: A Case Report.

Paraphrenia is a chronic psychotic disorder characterized by a strong delusional component with preservation of thought and personality. It was first introduced as a disorder associated with paranoid dementia and paranoia, but with less personality deterioration than schizophrenia and without fulfilling the clinical features of a delusional disorder. This classic diagnostic entity is not currently listed in main diagnostic systems, rendering delusional disorders difficult to classify in cases that resemble the concept of paraphrenia. We revisit the concept of paraphrenia through a critical review based on a clinical vignette of a patient followed at the psychiatry department of the University Hospital Center of São João.

Cross-cultural adaptation and validation of the Hospital Survey on Patient Safety Culture 2.0 - Brazilian version.

BACKGROUND: Patient safety culture concerns the values, beliefs and standards shared by an organisation's health staff and other personnel which influence their care provision actions and conduct. Several countries have made a priority of strengthening patient safety culture to improve the quality and safety of health care. In this direction, measuring the patient safety culture through validated instruments is a strategy applied worldwide. The purpose of this study was to adapt transculturally and validate the HSOPSC 2.0 to Brazilian Portuguese and the hospital context in Brazil. METHODS: Of the various validated scales for measuring safety culture, the instrument most used internationally is the Hospital Survey on Patient Safety Culture (HSOPSC) developed by the United States Agency for Healthcare Research and Quality in 2004 and revised in 2019, when version 2.0 was released. Adaptation was conducted on a universalist approach and the adapted instrument was then applied to a sample of 2,702 respondents (56% response rate) comprising staff of a large general hospital in the city of São Paulo. Construct validity was investigated by Exploratory Structural Equation Modelling-within-Confirmatory Factor Analysis (ESEM-within-CFA) and reliability was measured in each dimension by means of Cronbach alpha coefficients. RESULTS: ESEM fit indexes showed good data fit with the proposed model: χ2 = 634.425 df = 221 χ2/df ratio = 2.9 p-value < 0.0000; RMSEA = 0.045 (90% C.I. = 0.041-0.050) and probability RMSEA < = .05 = 0.963; CFI = 0.986; TLI = 0.968. However, ten items had loads lower than 0.4. Cronbach alpha values were 0.6 or more for all dimensions, except Handoffs and information exchange ([Formula: see text]= 0.50) and Staffing and work pace ([Formula: see text] = 0.41). CONCLUSION: The psychometric properties of the Brazilian version were found to be satisfactory, demonstrating good internal consistency and construct validity as expressed by estimates of reliability and indexes of model fit. However, given factor loadings smaller than 0.4 observed in ten items and considering that the scale translated and adapted to Portuguese was tested on a single sample during the Covid-19 pandemic, the authors recognize the need for it to be tested on other samples in Brazil to investigate its validity.

Radiographers' musculoskeletal health in Western Switzerland: WRMSDs symptoms prevalence and risk factors.

BACKGROUND: Work-related musculoskeletal disorders (WRMSDs) are a significant occupational health concern in radiographers. OBJECTIVE: This study aimed to describe radiographers' WRMSDs symptoms prevalence and severity, exploring associations with occupational risk factors. METHODS: A cross-sectional study was conducted to explore WRMSDs symptoms and occupational risk factors in radiographers of Western Switzerland using an online survey, based on the Nordic Musculoskeletal Questionnaire (NMQ). Descriptive statistics were conducted to analyze the collected data, and associative statistics to identify the risk factors related to symptoms. RESULTS: Participants (n = 359) presented a high prevalence of WRMSDs symptoms in the last 12 months (94.7%), with a related absenteeism rate of 15.6%. In the last 7 days, symptoms prevalence was 67.7%. The most affected anatomical regions, over both time periods, were the neck (73.0%, 36.8%) and low back (67.4%, 35.7%). Associative statistics underlined risk factors affecting significantly radiographers' health (OR >2) were the "awkward postures" (OR = 2.86; 95% CI 1.78-4.58) and "feeling anxiety/stress at work" both for low back (OR = 2.38; 95% CI 1.39-4.08), and being a woman for the neck (OR = 2.64; 95% CI 1.51-4.61). CONCLUSIONS: There is a high WRMSDs symptoms prevalence in Western Switzerland radiographers. Radiographers' work demands namely for awkward postures increases the odds for WRMSDs symptoms presence, affecting predominantly neck, upper and lower back. Our data suggest that further research is needed to implement adapted prevention to this specific context.

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.

OBJECTIVE: Genetic counseling and carrier screening are part of the gamete donation process by healthy individuals. We aim to review the findings of genetic counseling and carrier screening of a cohort of candidates at our public gametes bank. METHODS: Thirty-four male and 64 female candidates had genetic counseling with a medical geneticist before donation. Of these, one female candidate voluntarily dropped-out. Thirty-four males and 63 females performed karyotype and screening for the more common pathogenic variants for CFTR-related cystic fibrosis and spinal muscular atrophy (SMN1) in the Portuguese population. In addition, all females also performed Fragile X expansion screening (FMR1). Thirty candidates with known or assumed African ancestry performed hemoglobinopathies screening. RESULTS: Six candidates were definitely or temporarily withheld from the donation process given their family or personal history that required further investigation. Of 97 candidates tested, 16.5% presented anomalous laboratory results (16/97): ten candidates were carriers for an autosomal recessive disorder - cystic fibrosis (5/97), sickle cell anemia (3/30), and spinal muscular atrophy (2/97). One female was an FMR1 pre-mutation carrier (1/63). One female candidate presented with triple X mosaicism: 47,XXX[2]/46,XX[50]. Two candidates presented with chromosomal instability of unknown origin. In one candidate, a mosaic for the Philadelphia chromosome was detected, revealing the diagnosis of chronic myeloid leukemia. CONCLUSIONS: From a cohort of 97 candidates, 21.7% had a family/personal history or an anomalous laboratory result that required additional genetic counseling, stressing the importance of performing pre-donation genetic counseling in this population.