Gender Dysphoria: Concepts, Diagnosis and Clinical Management.

Gender dysphoria is defined as a condition characterized by mental suffering associated with the incongruence between one's experienced gender and their birth-assigned sex. Gender as a construct and gender dysphoria as a condition in need of multidisciplinary intervention have developed as swiftly as their visibility in society, making it mandatory to promote the literacy and education of all healthcare professionals in this area. This article aims to review information based on scientific evidence on people with gender dysphoria and its clinical approach, while contributing to a safe, inclusive, and non-discriminatory practice of healthcare.

Children's satisfaction with nursing care during hospitalization: A cross-sectional study.

PURPOSE: To assess hospitalized children's satisfaction with nursing care. DESIGN AND METHODS: Cross-sectional study using the "Children Care Quality at Hospital" questionnaire. 61 children admitted to the Pediatrics Department of a hospital in the Northern Region of Portugal were enrolled. RESULTS: The ranged age of the participants was 6 to 15 (10,61 ± 2,66 years), and most were male (52.46%; n = 32). The mean score in the three domains was 128 (77.11%), reflecting children's high satisfaction with the nursing care provided during hospitalization. The domain most valued was Nurse Characteristics, while the least valued was Nursing Environment. CONCLUSION: Results provide essential input for the dimensions to be considered when planning nursing care for children, managing care, and the physical environment in the wards. IMPLICATIONS FOR PRACTICE: These results highlight the need to hear children's voices. This must encourage nurses to reflect on how children evaluate nursing care and, by doing so, to increase the quality of nursing care provided in Pediatrics settings.

Insights Into Pediatric Asthma: A Population Study From Alto Minho Health Center.

Background Asthma represents one of the most common diseases in childhood, with a prevalence ranging between 9% and 13% in Portugal. Therefore, it holds significant importance in pediatric health. While existing studies have shed light on asthma in the Portuguese population, they have predominantly concentrated on urban centers, with the population of Alto Minho remaining underrepresented in the literature. This study aims to understand the main factors of exposure, exacerbation, and the most prevalent allergens in a pediatric sample from the Alto Minho Local Health Unit, Portugal. Methodology A retrospective cohort study was conducted among 239 pediatric asthma patients aged between five and 18 years at the Alto Minho Health Center. Data on demographics, clinical information, family history, environmental exposures, exacerbating factors, and prick test results were analyzed. Results Of the 239 patients, 64.44% were male and 35.56% were female. The majority of the sample exhibited a normal body mass index (82.17%) and a family history of atopy (66.67%). Noteworthy patterns emerged in comorbidities, notably an increased association with allergic rhinitis, the most frequent concomitant atopic pathology (79.50%), followed by atopic dermatitis (27.61%) and food allergy (10.88%). Sensitization to dust mites, particularly Dermatophagoides pteronyssinus, was widespread among the participants. Environmental exposures were marked by significant factors such as proximity to plants and trees, soft toys, and living in rural areas. Exacerbating factors included common triggers such as exercise, seasonal variations, and even laughter. Statistically significant associations were found between atopic comorbidities, exacerbation factors, exposure factors, and prick test results. Conclusions Our findings align with global trends, emphasizing the prevalence of atopic pathologies in pediatric asthma. Sensitization patterns and environmental exposures are indicative of regional influences. Study limitations include sample size and data standardization issues. Despite these limitations, the study significantly contributes to understanding pediatric asthma in Alto Minho, offering valuable insights for prompt diagnosis and targeted treatments.

Induced Pluripotent Stem Cell-Derived Cardiomyocytes: From Regulatory Status to Clinical Translation.

Cardiovascular diseases, considered the deadliest worldwide by the World Health Organization (WHO), lack effective therapies for regenerating cardiomyocytes. With their self-renewal and pluripotency capabilities, stem cell therapies are increasingly used in precision medicine. Induced pluripotent stem cells (iPSCs) are a promising alternative to embryonic stem cells. Good Manufacturing Practice (GMP) principles are not yet adapted for large-scale production of iPSCs. Additionally, the quality risk for iPSC products may not always be possible to eliminate, potentially jeopardizing the health of patients. This review aims to identify critical quality attributes (CQAs) for iPSC-derived cardiomyocytes (iPSC-CMs) for the development of cardiovascular therapy to ensure compliance with regulations and safety for patients. To attain these goals, the literature review was conducted with articles related to iPSCs and iPSC-CM therapies, legislation, and regulatory guidelines of the European Medicines Agency (EMA), Food and Drug Administration (FDA), and Pharmaceuticals and Medical Devices Agency (PMDA). In conclusion, additional regulations and guidelines are needed to monitor differentiation, maturation, and tumorigenicity. GMP-compliant cell banks and fast-track approval systems may increase accessibility for patients.

Female sexual dysfunction in an outpatient andrology clinic—A therapeutic opportunity? / Disfunción sexual femenina en clínica de andrología. ¿Una oportunidad terapéutica?

Introduction: The sexual life of a couple is a dynamic entity, in which the two influence each other mutually, thus the existence of female sexual dysfunction (FSD) can influence the treatment of the man who seeks clinical help. Identify sexual dysfunction in female partners of patients attending an andrology clinic may provide a therapeutic opportunity. The authors aim to assess proportion of FSD in this population by comparison with a control group. Material and methods: A longitudinal study over 12 months timespan. The female partners of patients attending the andrology clinic participating in the study (study group – SG) completed the Female Sexual Function Index (FSFI), as did the women serving as controls (control group – CG). Further data such as age, duration and quality of the relationship and previous relationships was also collected. Results: Of the 30 women included in the SG, 14 (46.6%) considered that their current sex life was worse than in previous relationships. Of the 20 women in the CG, 60% considered that their current sex life was better. In the SG, 22 (73.3%) had FSD, with a mean score in the FSFI of 20.5, whereas only 3 women in the CG (15%) had FSD, with a mean score of 30.7 (p<0.01). Conclusions: Our study demonstrated that the proportion of FSD in female partners of patients attending an andrology clinic is significantly higher than control group. FSD treatment should be considered as a therapeutic opportunity for the couple in this setting. (AU)

Introducción: La vida sexual de una pareja es una entidad dinámica, en la que ambos se influyen mutuamente, por lo que la existencia de disfunción sexual femenina (DSF) puede influir en el tratamiento del hombre que busca ayuda clínica. Identificar la disfunción sexual en las parejas femeninas de los pacientes que asisten a una Clínica de Andrología puede brindar una oportunidad terapéutica. Los autores pretenden evaluar la proporción de DSF en esta población comparándola con un grupo de control. Material y métodos: Estudio longitudinal durante 12 meses. Las parejas femeninas de los pacientes que asistieron a la Clínica de Andrología y que participaron en el estudio (grupo de estudio) completaron el Índice de Función Sexual Femenina, de la misma forma que las mujeres, que sirvieron como control (grupo de control). También se recopilaron datos adicionales como edad, duración, calidad de la relación y las relaciones entre los anteriores. Resultados: De las 30 mujeres incluidas en el grupo de estudio, 14 (46,6%) consideraron que su vida sexual actual era peor que en relaciones anteriores. De las 20 mujeres del grupo control, el 60% consideró que su vida sexual actual era mejor. En el grupo de estudio, 22 (73,3%) tenían DSF, con una puntuación media de Índice de Función Sexual Femenina de 20,5, mientras que solo 3 mujeres en el grupo control (15%) tenían DSF, con una puntuación media de 30,7 (p <0,01). Conclusiones: Nuestro estudio demostró que la proporción de DSF en parejas femeninas de pacientes que acuden a una Clínica de Andrología es significativamente mayor que en el grupo control. El tratamiento de la disfunción sexual femenina debe considerarse como una oportunidad terapéutica para la pareja en este escenario. (AU)

Neurodevelopment outcomes in the first 5 years of the life of children with transposition of the great arteries surgically corrected in the neonatal period: systematic review and meta-analysis.

OBJECTIVES: In patients with transposition of the great arteries, surgical correction may achieve definitive treatment, so a thorough knowledge of the long-term outcomes, particularly neurodevelopment outcomes, is essential. Therefore, we conducted a systematic review and meta-analysis to study the neurodevelopment outcomes in the first 5 years of the life of children submitted to corrective surgery for transposition of the great arteries in the neonatal period. METHODS: A total of 17 studies from 18 reports were included, assessing 809 individuals with surgically corrected transposition of the great arteries. The neurodevelopmental outcomes were assessed with the Bayley Scales of Infant and Toddler Development (BSID) and the Wechsler Intelligence Scale for Children (WISC). RESULTS: Mean Mental Development Index (MDI) and Psychomotor Development Index (PDI) were within the average values from 1 to 3 years of age, although the proportion of children scoring more than 1 standard deviation below the mean in PDI, MDI, motor, and language composite scores was significantly higher than in the general population. From 4 to 5 years, mean full-scale global intelligence quotient (IQ), verbal IQ, and performance IQ scores did not differ significantly from the general population. CONCLUSION: This study revealed neurodevelopment scores within the normal range at 5 years of age in children submitted to corrective surgery for transposition of the great arteries in the neonatal period. However, these early outcomes may not adequately predict long-term outcomes. Further studies are needed to identify specific risk factors and early markers of later impairment to guide the establishment of early interventions.

Medical consequences of "contingency accommodation" for people seeking asylum: thematic analysis of a survey from professionals working in contingency accommodation.

BACKGROUND: Concerns about the housing of migrants and asylum seekers have escalated since the COVID-19 pandemic. From the use of quasi-detention facilities and so-called contingency accommodation to outbreaks of diphtheria in processing centres, there is a worrying trend to normalise potentially damaging conditions. The aim of this study was to assess the health risks posed by contingency housing for asylum seekers in the UK. METHODS: In this cross-sectional survey, a 10-point online questionnaire was sent to professional networks working with refugees and asylum seekers within the UK. Responses were collected between March 4, and April 11, 2022, using a mixture of convenience and snowballing sampling approach. The objectives of the survey were (1) to identify and document unmet needs, (2) to offer practical support, and (3) to map out services and organisation. The survey was designed by six medical professionals with experience of working with migrants and validated by three doctors who had experience running out-reach medical clinics for asylum seekers within contingency accommodation. Background details of geographical location and occupation were collected, and a combination of closed and open questions were used to collect information across five domains (medical, legal social, integration, and basic essentials) using a social determinants of health framework. A code book thematic analysis using a deductive/inductive hybrid approach was used to identify health and social needs as well as specific rights being denied. FINDINGS: There were 68 responses from around the UK, of which 30 (44%) were health-care professionals, and 38 (56%) were from the wider voluntary sector. 45 (67%) had visited an accommodation site, and 21 (33%) had worked with those living in contingency accommodation in other respects. Respondents reported observations regarding sites across most parts of the UK. Major themes of access to health-care, access to other services, barriers to access, and safeguarding were identified, with subthemes on access to primary care, maternity, and mental health services (eg, "Vast unmet need in mental health provision, several suicide attempts"); access to basic essential services (eg, "Food was not fit for purpose" "[c]hildren often did not receive breakfast"); education, and legal support; and frequent moving and communication. INTERPRETATION: Through several themes we highlight the substantial impact of structural isolation of asylum seekers through contingency housing, its major effects on wellbeing and the exacerbation of health inequities. We are using these results to work with asylum seekers and local non-governmental organisations to campaign for improved housing conditions. Study limitations include sampling bias, and a lack of voices of those with lived experience. FUNDING: None.

Giving time a chance in the midsession reversal task.

The midsession reversal task involves a simultaneous discrimination between stimuli S1 and S2. Choice of S1 but not S2 is reinforced during the first 40 trials, and choice of S2 but not S1 is reinforced during the last 40 trials. Trials are separated by a constant intertrial interval (ITI). Pigeons learn the task seemingly by timing the moment of the reversal trial. Hence, most of their errors occur around trial 40 (S2 choices before trial 41 and S1 choices after trial 40). It has been found that when the ITI is doubled on a test session, the reversal trial is halved, a result consistent with timing. However, inconsistent with timing, halving the ITI on a test session did not double the reversal trial. The asymmetry of ITI effects could be due to the intrusion of novel cues during testing, cues that preempt the timing cue. To test this hypothesis, we ran two types of tests after the regular training in the midsession reversal task, one with S1 and S2 choices always reinforced, and another with S1 always reinforced but S2 reinforced only after 20 trials when the ITI doubled or 40 trials when the ITI halved. For most pigeons, performance was consistent with timing both when the ITI doubled and when it was halved, but some pigeons appeared to follow strategies based on counting or on reinforcement contingencies.

Unveiling the Mystery: A Case Report on Oropharyngeal Synovial Sarcoma.

Synovial sarcoma, originating from mesenchymal cells, represents a rare and aggressive sarcoma subtype. This case report describes a rare occurrence of synovial sarcoma in the soft palate, with only a few cases described in the literature. A 38-year-old male presented with a painless mass on the soft palate, which raised suspicion of an abscess and emphasized the importance of considering malignancy in persistent or progressive soft tissue masses, even in atypical anatomical locations. The diagnostic workup, including imaging modalities such as maxillofacial computed tomography (CT) scan, magnetic resonance imaging (MRI), and positron emission tomography-fluorodeoxyglucose (PET-FDG) scan, played a crucial role in confirming the diagnosis and assessing disease extension.  The standard treatment is the complete excision of the tumor. Nevertheless, when it comes to tumors located in the head and neck region, defining standardized margins proves to be a challenge. Radiotherapy can play an important role, particularly in those with tumors larger than 5 cm or positive margins. While chemotherapy offers certain advantages, its application remains a subject of controversy despite its potential benefits. Timely referral and multidisciplinary management are essential in optimizing patient outcomes. Although synovial sarcoma poses diagnostic and therapeutic challenges, advances in diagnostic techniques and personalized medicine offer hope for improved outcomes.

The idiopathic inflammatory myopathies module of the Rheumatic Diseases Portuguese Register.

AIMS: To characterise the idiopathic inflammatory myopathies (IIM) module of the Rheumatic Diseases Portuguese Register (Reuma.pt/myositis) and the patients in its cohort. METHODS: Reuma.pt is a web-based system with standardised patient files gathered in a registry. This was a multicentre open cohort study, including patients registered in Reuma.pt/myositis up to January 2022. RESULTS: Reuma.pt/myositis was designed to record all relevant data in clinical practice and includes disease-specific diagnosis and classification criteria, clinical manifestations, immunological data, and disease activity scores. Two hundred eighty patients were included, 71.4% female, 89.4% Caucasian, with a median age at diagnosis and disease duration of 48.9 (33.6-59.3) and 5.3 (3.0-9.8) years. Patients were classified as having definite (N=57/118, 48.3%), likely (N=23/118, 19.5%), or possible (N=2/118, 1.7%) IIM by 2017 EULAR/ACR criteria. The most common disease subtypes were dermatomyositis (DM, N=122/280, 43.6%), polymyositis (N=59/280, 21.1%), and myositis in overlap syndromes (N=41/280, 14.6%). The most common symptoms were proximal muscle weakness (N=180/215, 83.7%) and arthralgia (N=127/249, 52.9%), and the most common clinical signs were Gottron's sign (N=75/184, 40.8%) and heliotrope rash (N=101/252, 40.1%). Organ involvement included lung (N=78/230, 33.9%) and heart (N=11/229, 4.8%) involvements. Most patients expressed myositis-specific (MSA, N=158/242, 65.3%) or myositis-associated (MAA, 112/242, 46.3%) antibodies. The most frequent were anti-SSA/SSB (N=70/231, 30.3%), anti-Jo1 (N=56/236, 23.7%), and anti-Mi2 (N=31/212, 14.6%). Most patients had a myopathic pattern on electromyogram (N=101/138, 73.2%), muscle oedema in magnetic resonance (N=33/62, 53.2%), and high CK (N=154/200, 55.0%) and aldolase levels (N=74/135, 54.8%). Cancer was found in 11/127 patients (8.7%), most commonly breast cancer (N=3/11, 27.3%). Most patients with cancer-associated myositis had DM (N=8/11, 72.7%) and expressed MSA (N=6/11) and/or MAA (N=3/11). The most used drugs were glucocorticoids (N=201/280, 71.8%), methotrexate (N=117/280, 41.8%), hydroxychloroquine (N=87/280, 31.1%), azathioprine (N=85/280, 30.4%), and mycophenolate mofetil (N=56/280, 20.0%). At the last follow-up, there was a median MMT8 of 150 (142-150), modified DAS skin of 0 (0-1), global VAS of 10 (0-50) mm, and HAQ of 0.125 (0.000-1.125). CONCLUSIONS: Reuma.pt/myositis adequately captures the main features of inflammatory myopathies' patients, depicting, in this first report, a heterogeneous population with frequent muscle, joint, skin, and lung involvements.

Cycling versus swapping strategies in psoriatic arthritis: results from the rheumatic diseases Portuguese register.

OBJECTIVE: To compare the 2-year retention rate between a second tumor necrosis factor alpha inhibitor (TNFi) and secukinumab (SEK) or ustekinumab (UST), in Psoriatic Arthritis (PsA) patients with previous inadequate response to their first TNFi. METHODS: Prospective longitudinal cohort study with a follow-up period of 2 years using the Nationwide Portuguese Reuma.pt database. Patients with a clinical diagnosis of PsA who also fulfill the CASPAR classification criteria, with previous treatment failure to a first-line TNFi and having started a second biotechnological drug (TNFi, SEK or UST) were included. The Cycling group was defined as switching from a first TNFi to a second TNFi, and the Swapping group as switching from a first TNFi to SEK or UST. Sociodemographic data, disease characteristics, disease activity scores and physical function at baseline and after 6, 12 and 24 months were recorded. Cox-proportional hazards regression was used to compare retention rates between Cycling and Swapping groups. To obtain a predictor model of 2-year discontinuation, a multivariable Cox regression model was performed. RESULTS: In total, 439 patients were included, 58% were female, with a mean age (standard deviation) of 49 (12) years. Globally, 75.6% initiated a second TNFi (Cycling group), and 24.4% started SEK/UST (Swapping group). The retention rates after 6, 12 and 24 months were 72%/66%/59% in the Cycling group; and 77%/66%/59% in the Swapping group. There were no significant differences in retention rates between both strategies (HR: 1.06, 95% CI 0.72-1.16). After 2 years of follow-up, 34.4% of patients discontinued their second biologic, mainly due to inefficacy (72.8%), with no differences found between groups. Baseline treatment with glucocorticoids was the only predictor of discontinuation after 2 years of follow-up (HR:1.668, 95% CI 1.154-2.409). CONCLUSIONS: After failure of a first TNF inhibitor, Cycling and Swapping strategies result in similar retention rates suggesting that both are acceptable in the management of patients with psoriatic arthritis.

Barriers and alternatives to pediatric rheumatology referrals: a survey of family doctors and pediatricians in Portugal.

BACKGROUND: Access to pediatric rheumatology (PR) is not well described in Portugal. The main goal of this study was to ascertain barriers to PR referrals and subsequent alternative referral patterns among family doctors and pediatricians. METHODS: A web-based survey was e-mailed to family doctors and pediatricians practicing in Portugal, in order to investigate access to PR care issues. Descriptive and comparative analysis was performed. RESULTS: Two hundred and ninety-two responses were obtained, 24.7% from pediatricians and 75.3% from family doctors. Only 12% claimed to have had specific education on PR. Nearly 70% worked less than one hour away from a PR center. Twenty eight percent had referred a patient to PR at least once, and 9.3% experienced a situation in which they considered referring to PR but ultimately did not. Many referred to other specialties, primarily pediatrics, adult rheumatology, and pediatric orthopedics. Pediatricians encountered more diversified rheumatic diseases. Fifty five percent had no opinion on PR centers' support, while 24% found it sufficient. Having specific training on PR, being a pediatrician and a specialist were associated with greater referrals to PR. The most rated measure for PR referrals' improvement was promoting education. Regional access to PR's discrepancies were documented. CONCLUSION: Mainly lack of education on PR, but also uneven national coverage and greater distances to some PR centers were the main barriers to PR referrals, in Portugal. Pediatricians seem to have better education, greater experience and more referrals to PR. The current alternatives for referral are pediatrics, adult rheumatology and pediatric orthopedics. Educational consolidation was the biggest and most rewarding inconsistency to battle against.

Female sexual dysfunction in an outpatient andrology clinic-A therapeutic opportunity?

INTRODUCTION: The sexual life of a couple is a dynamic entity, in which the two influence each other mutually, thus the existence of female sexual dysfunction (FSD) can influence the treatment of the man who seeks clinical help. Identify sexual dysfunction in female partners of patients attending an andrology clinic may provide a therapeutic opportunity. The authors aim to assess proportion of FSD in this population by comparison with a control group. MATERIAL AND METHODS: A longitudinal study over 12 months timespan. The female partners of patients attending the andrology clinic participating in the study (study group - SG) completed the Female Sexual Function Index (FSFI), as did the women serving as controls (control group - CG). Further data such as age, duration and quality of the relationship and previous relationships was also collected. RESULTS: Of the 30 women included in the SG, 14 (46.6%) considered that their current sex life was worse than in previous relationships. Of the 20 women in the CG, 60% considered that their current sex life was better. In the SG, 22 (73.3%) had FSD, with a mean score in the FSFI of 20.5, whereas only 3 women in the CG (15%) had FSD, with a mean score of 30.7 (p<0.01). CONCLUSIONS: Our study demonstrated that the proportion of FSD in female partners of patients attending an andrology clinic is significantly higher than control group. FSD treatment should be considered as a therapeutic opportunity for the couple in this setting.

Assessment of calcinosis in Portuguese patients with systemic sclerosis - a multicenter study.

INTRODUCTION/OBJECTIVES: The study aims to define the clinical and subclinical calcinosis prevalence, the sensitivity of radiographed site and clinical method for its diagnosis, and the phenotype of Portuguese systemic sclerosis (SSc) patients with calcinosis. METHOD: A cross-sectional multicenter study was conducted with SSc patients fulfilling Leroy/Medsger 2001 or ACR/EULAR 2013 classification criteria, registered in the Reuma.pt. Calcinosis was assessed through clinical examination and radiographs of hands, elbows, knees, and feet. Independent parametric or non-parametric tests, multivariate logistic regression, and sensitivity calculation of radiographed site and clinical method for calcinosis detection were performed. RESULTS: We included 226 patients. Clinical calcinosis was described in 63 (28.1%) and radiological calcinosis in 91 (40.3%) patients, of which 37 (40.7%) were subclinical. The most sensitive location to detect calcinosis was the hand (74.7%). Sensitivity of the clinical method was 58.2%. Calcinosis patients were more often female (p = 0.008) and older (p < 0.001) and had more frequently longer disease duration (p < 0.001), limited SSc (p = 0.017), telangiectasia (p = 0.039), digital ulcers (p = 0.001), esophageal (p < 0.001) and intestinal (p = 0.003) involvements, osteoporosis (p = 0.028), and late capillaroscopic pattern (p < 0.001). In multivariate analysis, digital ulcers (OR 2.63, 95% CI 1.02-6.78, p = 0.045) predicted overall calcinosis, esophageal involvement (OR 3.52, 95% CI 1.28-9.67, p = 0.015) and osteoporosis (OR 4.1, 95% CI 1.2-14.2, p = 0.027) predicted hand calcinosis, and late capillaroscopic pattern (OR 7.6, 95% CI 1.7-34.9, p = 0.009) predicted knee calcinosis. Anti-nuclear antibody positivity was associated with less knee calcinosis (OR 0.021, 95% CI 0.001-0477, p = 0.015). CONCLUSIONS: Subclinical calcinosis high prevalence suggests that calcinosis is underdiagnosed and radiographic screening might be relevant. Multifactorial pathogenesis may explain calcinosis predictors' variability. Key Points • Prevalence of subclinical calcinosis in SSc patients is substantial. • Hand radiographs are more sensitive to detect calcinosis than other locations or clinical method. • Digital ulcers were associated with overall calcinosis, esophageal involvement and osteoporosis were associated with hand calcinosis, and late sclerodermic pattern in nailfold capillaroscopy was associated with knee calcinosis. • Anti-nuclear antibody positivity may be a protective factor for knee calcinosis.