A pilot study on the global practice of informed consent in paediatric dentistry.

Background: Conducting oral treatment early in the disease course, is encouraged for better health outcomes. Obtaining informed consent is an essential part of medical practice, protecting the legal rights of patients and guiding the ethical practice of medicine. In practice, consent means different things in different contexts. Silver Diamine Fluoride (SDF) and Silver Fluoride (SF) is becoming popular and cost effective methods to manage carious lesions, however, cause black discolouration of lesions treated. Obtaining informed consent and assent is crucial for any dental treatment-and has specific relevance with SDF/ SF treatments. Methods: The aim of this paper is to describe informed consent regulations for dental care in a selection of countries, focusing on children and patients with special health care needs. An online survey was shared with a convenience sample of dental professionals from 13 countries. The information was explored and the processes of consent were compared. Results: Findings suggest that there are variations in terms of informed consent for medical practice. In Tanzania, South Africa, India, Kenya, Malaysia and Brazil age is the determining factor for competence and the ability to give self-consent. In other countries, other factors are considered alongside age. For example, in Singapore, the United Kingdom, and the United States the principle of Gillick Competence is applied. Many countries' laws and regulations do not specify when a dentist may overrule general consent to act in the "best interest" of the patient. Conclusion: It is recommended that it is clarified globally when a dentist may act in the "best interest" of the patient, and that guidance is produced to indicate what constitutes a dental emergency. The insights gathered provide insights on international practice of obtaining informed consent and to identify areas for change, to more efficient and ethical treatment for children and patients with special needs. A larger follow up study is recommended to include more or all countries.

Unexpected pancreatic mixed neuroendocrine-nonneuroendocrine neoplasms (MiNEN)-reflection on a case report.

The authors present a case involving a 51-year-old male who was diagnosed with a 4-cm mass in the body of the pancreas, initially suspected to be a ductal adenocarcinoma due to an elevated Ca 19.9 during routine analysis. Subsequent imaging studies confirmed a resectable disease without suspicious lymph nodes or distant metastasis, leading to the proposal of surgery. The patient underwent a laparoscopic distal splenopancreatectomy, which was uneventful. The histopathological examination revealed a 3.7-cm pancreatic mixed neuroendocrine neoplasia (MiNEN) with a predominant high-grade ductal adenocarcinoma component and a concurrent high-grade neuroendocrine carcinoma, with negative margins. Two lymph node metastases were identified, each representing metastasis of one of the components. The tumor was classified as pT2N1M0. Currently, the patient is undergoing chemotherapy with FOLFIRINOX. This case prompts reflection on the optimal treatment strategy for pancreatic MiNEN and raises the question of how the preoperative diagnosis could influence the patient's outcome.

[Stuttering in Children: Review and Referral Criteria]. / Disfluências e Gaguez: Revisão e Critérios de Referenciação.

Stuttering is a speech fluency disorder, in which people know perfectly well the message they want to convey, even though their speech is characterized by changes in rhythm, repetitions, prolongations, pauses and blocks, and may also be associated with states of anxiety or emotional tension. Up to one in every six children, typically between two and five years old, experience a period of transitory speech disfluency, with usual spontaneous recovery before reaching school age, with a prevalence rate of stuttering of up to 1% of the adult population, and a higher incidence rate in males (4:1). In Portugal, it is estimated that stuttering affects around 100 thousand people, acquiring importance due to its frequency and association with lower self-esteem, anxiety and social isolation, with negative impact on people's ability to communicate and on their well-being and social interactions. The aim of this article is to highlight the complexity of the diagnostic and therapeutic approach of stuttering in pediatrics, with a particular focus on differentiating between normal speech disfluencies and childhood-onset fluency disorder (stuttering) and referral criteria, in order to raise awareness and facilitate early detection of these cases.

A gaguez é uma perturbação da comunicação a nível da fluência em que a pessoa sabe claramente a mensagem que quer transmitir, mas o seu discurso é caracterizado por alterações do ritmo, repetições, prolongamentos, pausas e bloqueios, podendo ainda associar-se a quadros de ansiedade ou tensão emocional. Até uma em cada seis crianças, tipicamente entre os dois e os cinco anos, experienciam um período de disfluência transitória, com habitual recuperação espontânea até à idade escolar, verificando-se uma prevalência de gaguez em até 1% da população adulta, com maior incidência no sexo masculino (4:1). Em Portugal, é estimado que a gaguez afete cerca de 100 mil pessoas, adquirindo particular importância pela sua frequência e associação a redução da autoestima, ansiedade e isolamento social com impacto na capacidade de comunicação do indivíduo e no seu bem-estar e interações sociais. Este artigo tem como objectivo alertar para a complexidade da abordagem diagnóstica e terapêutica em idade pediátrica, com particular incidência na diferenciação entre disfluências normais da fala e perturbação da fluência com início na infância (gaguez) e critérios de referenciação, pretendendo consciencializar e facilitar a deteção e orientação precoce destes casos.

Engagement with life and psychological well-being in late adulthood: Findings from community-based programs in Portugal.

OBJECTIVES: Human aging is a multidirectional, multidimensional, and multicausal process that reflects biological, psychological, and sociocultural influences, which act in distinct combinations throughout the life-span. Proactivity towards avoiding the usual aging process is needed. This study analyses the long-term effects of participation in Community-Based Programs on psychological well-being. METHOD: A sample of 150 community-dwelling participants enrolled in Community-Based Programs, aged 55 to 84 years and living in three Portuguese localities were matched by age (55-64, 65-74, 75-84 years), gender, and locality with a comparison group of non-participants. We administered a multidimensional gerontological protocol which included socio-demographic information, measures of health/disease, functional ability, social network, cognitive performance and psychological well-being. Hierarchical regression models were used to test the effects of Community-Based Programs on psychological well-being adjusting for remaining variables. RESULTS: Overall, psychological well-being is positively associated with household income and satisfaction with health. Nevertheless, in participants, psychological well-being builds predominantly upon social network and is not associated with a moderate inability or cognitive deficits, contrasting with psychological well-being in non-participants. After adjusting for background variables, psychological well-being was positively associated with health satisfaction and social network and negatively related to moderate inability. Further, a significant interaction of participation in Community-Based Programs with age, points out higher levels of psychological well-being in participants contrasting with a downward trend in non-participants. After stratification by age, psychological well-being increases with time attending Community-Based Programs in the oldest (75-84 years) contrasting with the remainder. CONCLUSIONS: Participation in Community-Based Programs may improve the negative effects of the aging process on psychological well-being. This positive effect as age increases may be linked to a reinforcement of social network, valued more by participants in Community-Based Programs. Furthermore, the programs may act as a healing/maintenance strategy in persons with moderate inability and/or cognitive deficits.

A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal.

INTRODUCTION: Prader-Willi syndrome is a multisystemic genetic disorder associated with shorter adult height. Nowadays, all paediatric Prader-Willi syndrome patients are considered for growth hormone treatment. We present the experience of this treatment at a Portuguese paediatric endocrinology unit and intend to emphasise the importance of creating a follow-up national network of these patients. MATERIAL AND METHODS: Longitudinal, retrospective, analytical study of Prader-Willis syndrome patients using data between 1989 and 2021. Growth hormone therapy was offered to eligible patients. The analysis included all Prader-Willis syndrome patients, with a comparison between treated and untreated patients; a longitudinal analysis of patients receiving growth hormone therapy (baseline, 12 and 36 months of follow-up) was also carried out. The statistical analysis was carried out using STATA® v13.0. RESULTS: Out of 38 patients with Prader-William syndrome, 61% were male. The median age at diagnosis was four months and 61% received growth hormone therapy. The patients who reached adulthood, or 18 years old, had a median near-adult height, Z-score of -2.71, and their median body mass index indicated class 2 obesity, regardless of growth hormone therapy. Patients had a lower body mass index in the growth hormone group (35 vs 51 kg/m2, p < 0.042) near-adult height. CONCLUSION: This case series represents the first national study that included patients on growth hormone therapy after the National Health Service started supporting the treatment for Prader-Willi syndrome patients and supports its use, reinforcing the positive effects on growth and body mass index. Longer follow-up studies are needed to analyse the effect of growth hormone on patient metabolic profiling, body composition and cognitive level.

Introdução: A síndrome de Prader-Willi é uma doença genética multissistémica associada a baixa estatura. Atualmente, todos os doentes pediátricos com síndrome de Prader-Willi são candidatos a terapia com hormona do crescimento. Apresentamos a experiência desta terapêutica numa unidade de Endocrinologia Pediátrica portuguesa e realçamos a importância de criar uma base de dados nacional de seguimento destes doentes. Material e Métodos: Estudo longitudinal, retrospetivo e analítico de doentes com síndrome de Prader-Willi utilizando dados entre 1989 e 2021. A terapia com hormona de crescimento foi administrada aos doentes elegíveis. Foi realizada análise de todos os doentes com síndrome de Prader-Willi, com comparação doentes tratados/não tratados; foi também realizada uma análise longitudinal dos doentes sob hormona de crescimento (início/12/36 meses de seguimento). O tratamento estatístico foi realizado com recurso ao STATA® v13.0. Resultados: De um total de 38 doentes com síndrome de Prader-Willi, 61% eram do sexo masculino. Idade média de diagnóstico quatro meses e 61% sob hormona de crescimento. Os doentes que atingiram a idade adulta apresentaram um Z-score de mediana de estatura alvo de -2,71, e índice de massa corporal obesidade nível 2, independentemente da terapêutica com hormona de crescimento. Os doentes apresentaram um índice de massa corporal menor no grupo tratado com hormona de crescimento (35 vs 51 kg/m2, p < 0,042). Conclusão: Este estudo de série de casos de doentes com síndrome de Prader-Willi tratados com hormona de crescimento é pioneiro a nível nacional desde a comparticipação deste tratamento pelo Sistema Nacional de Saúde português e apoia esta terapêutica, reforçando os seus efeitos positivos no crescimento e índice de massa corporal. Serão necessários estudos com seguimento mais prolongado para analisar o seu efeito no perfil metabólico, composição corporal e cognição.

Clinical Communication Within Hospital Pharmacy Practice: Exploring Pharmaceutical Oncological Consultations.

This exploratory study aimed to identify communication trends typical of pharmacists' clinical communication in the context of hospital consultations. A cross-sectional design was used to investigate the pharmacist-patient exchange, applying the Roter Interaction Analysis System (RIAS). Communication variables and RIAS composites were assessed, including therapeutic information complexity, estimated through the ad-hoc score CTICS (Cancer Therapy Information Complexity Score). The study comprised 13 consultations of cancer patients with one female pharmacist, of which 6 included a patient family member, lasting on average 22.74 minutes and presenting repeated or overlapping consultation phases. The pharmacist's talk dominance reached 53.49%, slightly higher in dyadic consultations (U = 6.0, p = .032), and with an overall predominance of closed-ended questioning (W = 81.0, p = .013). Patients' questioning on biomedical issues was higher in dyadic consultations. The level of the pharmacist's rapport-building with the relative was higher when the patient's age was ≥80 years. Several strong correlations, both positive and negative, were found between composites, including between patient positive rapport-building and relative lifestyle/psychosocial information giving (Rho = -0.971, p = .001). Pharmaceutical consultations seem to be lengthier than other hospital practitioners' interviews, indicating a lack of  clear organization and flow, thus challenging their efficiency regarding therapy management. Still, several positive communication features were found regarding the pharmaceutical care of older cancer patients. Further studies are needed, involving larger samples and other hospital consultation settings.

Micronuclei from misaligned chromosomes that satisfy the spindle assembly checkpoint in cancer cells.

Chromosome alignment to the spindle equator is a hallmark of mitosis thought to promote chromosome segregation fidelity in metazoans. Yet chromosome alignment is only indirectly supervised by the spindle assembly checkpoint (SAC) as a byproduct of chromosome bi-orientation, and the consequences of defective chromosome alignment remain unclear. Here, we investigated how human cells respond to chromosome alignment defects of distinct molecular nature by following the fate of live HeLa cells after RNAi-mediated depletion of 125 proteins previously implicated in chromosome alignment. We confirmed chromosome alignment defects upon depletion of 108/125 proteins. Surprisingly, in all confirmed cases, depleted cells frequently entered anaphase after a delay with misaligned chromosomes. Using depletion of prototype proteins resulting in defective chromosome alignment, we show that misaligned chromosomes often satisfy the SAC and directly missegregate without lagging behind in anaphase. In-depth analysis of specific molecular perturbations that prevent proper kinetochore-microtubule attachments revealed that misaligned chromosomes that missegregate frequently result in micronuclei. Higher-resolution live-cell imaging indicated that, contrary to most anaphase lagging chromosomes that correct and reintegrate the main nuclei, misaligned chromosomes are a strong predictor of micronuclei formation in a cancer cell model of chromosomal instability, but not in non-transformed near-diploid cells. We provide evidence supporting that intrinsic differences in kinetochore-microtubule attachment stability on misaligned chromosomes account for this distinct outcome. Thus, misaligned chromosomes that satisfy the SAC may represent a previously overlooked mechanism driving chromosomal/genomic instability during cancer cell division, and we unveil genetic conditions predisposing for these events.

Thoracic Outlet Syndrome after Minimally Invasive Repair of Pectus Excavatum in a 15-Year-Old Boy: A Case Report.

Nuss procedure has become the treatment of choice in pectus excavatum mainly because of the excellent functional and cosmetic results. Despite the good results, several complications have been reported. The aim of this study is to describe a case of thoracic outlet syndrome (TOS) after Nuss procedure and review the management of such rare complication. A 15-year-old boy otherwise healthy was submitted to Nuss procedure, with no perioperative complications. Two-weeks later, the patient complained of right-hand paresthesia, progressive weakness of the right arm and coldness. After imaging and electromyography, TOS diagnosis was established. Removal of the bar was proposed but refused by the patient. Conservative management with rehabilitation exercising and nerve nourishing was initiated. At 7 months, the patient recovered arm and hand function. Abrupt structural changes of thoracic cavity with marked elevation of the upper chest induce nerve and vascular compression arousing a TOS and should be acknowledged as one potential complication of Nuss procedure. Conservative management can be an alternative treatment to bar removal, showing good results on functional recovery in early stages of compression.

Minimally invasive treatment of pilonidal sinus disease in a paediatric population: comparison of two techniques.

BACKGROUND: Pilonidal disease (PD) is a common and debilitating inflammatory condition with significant impact on quality of life. Minimally invasive techniques (MIT) have shown promising results comparing to traditional excision. Herein we present a comparison of two MIT techniques -sinusectomy (SE) and pit-picking plus laser ablation (PPL). METHODS: All cases of paediatric PD treated by PPL and SE at our center between August 2018 and August 2020 were retrospectively reviewed. RESULTS: One-hundred and six patients were included, with a median age of 16 years (IQR 15-16). PPL was the procedure of choice in 36 patients (34%) and the remaining underwent SE (66%). Median healing time was significantly lower in SE group (20 days), comparing to PPL (30 days) (p = 0.002). Early healing failure occurred more frequently in the PPL group (p = 0.003). Recurrence rate was similar between groups - PPL 17% versus SE 16% (p = 0.89). Overall complication rate was 9% and was significantly higher in PPL (p = 0.03). CONCLUSIONS: MIT techniques are promising solutions in PD treatment. Although similarly easy and fast to perform, SE technique showed better healing profile and lower complication rate but no significant difference on recurrence rates was observed.

CORONARY ARTERIES - WHEN CALCIFICATION POPS UP.

An 84-year-old woman, with background history of atrial fibrillation, cerebral vascular disease, ischemic heart failure by coronary disease with several stent implantation, presented in the emergency room with syncope. The chest radiograph evidenced the coronary trajectory by their calcification.

UK-based specialist dental professionals' experiences of working with autistic patients.

AIMS: Previous research has demonstrated that autistic individuals often experience difficulties accessing dental care, both as a result of autism specific difficulties and practitioners' attitudes towards autism. However, very little research exists that explores dental professionals' experiences of providing care to their autistic patients. The aim of this study was to investigate the strategies UK-based dental professionals' use when working with autistic patients METHODS AND RESULTS: In this study, dental professionals (n = 16) from a variety of specialty roles (special care, paediatrics, orthodontics) were interviewed. We asked participants to talk through, in depth, specific cases they had encountered in their practice, what sorts of accommodations they had provided, and what concerns had arisen during appointments. Thematic analysis was used to analyses the data and revealed four main themes: the unique dental needs associated with being autistic, effective adaptations to practice, the crucial role of the caregiver, and the importance of specialist knowledge CONCLUSION: Recommendations for how dentists can improve the dental experiences of autistic patients can be drawn from the specialist dentists' responses in this study. These include involving autistic patients in decisions about their treatment and being flexible and willing to work with autistic patients and their caregivers.

Crime and police activity during the COVID-19 pandemic in Rio de Janeiro, Brazil. / Crime e policiamento durante a pandemia de COVID-19 no Rio de Janeiro, Brasil.

This paper analyzes crime reports and police activity in Rio de Janeiro during the first months of the COVID-19 pandemic. The results indicate there was an overall drop in crime rates starting in April, especially in property crimes, which plummet to extremely unusual levels when compared with previous patterns. This pattern is most likely associated with an unprecedented decline in public mobility in some areas of the state. We show that the most significant reductions in street robberies occurred in neighborhoods where there was a greater decline in presence on the streets. Measures of police activity, in particular drug seizures and different types of arrests, displayed a reduction comparable with the drop in criminal indicators. In contrast, the number of police killings followed a unique pattern: in April, immediately after the adoption of social distance measures, this indicator increased above the average from the previous four years; as of May, however, it assumed a downward trend, which turned into extraordinarily low levels in June. The extreme variation in the use of force by the police during the pandemic reinforces the documented dissonance between police lethality and criminal dynamics in Rio de Janeiro, shedding light on the mechanisms that regulate police violence in the state.

Este trabalho analisa os indicadores de Segurança Pública no Rio de Janeiro durante os primeiros meses da pandemia de COVID-19. Os resultados demonstram uma queda ampla nos índices de atividade criminal a partir de abril, em especial nos delitos contra o patrimônio, cujo nível de ocorrência foi particularmente incomum para o padrão anterior dos dados. Esse comportamento parece estar associado à retração no fluxo de pessoas em áreas do estado. Para os bairros em que se tem informação de deslocamento, é possível demonstrar que as reduções mais expressivas de roubos de rua ocorreram onde houve maior diminuição na circulação de pessoas. As atividades policiais registraram uma redução semelhante aos indicadores criminais, em particular as apreensões de drogas e as prisões. A exceção a esse cenário foi representada pelo número de mortes por intervenção de agentes do Estado: em abril, esse indicador observou um aumento superior à média dos últimos quatro anos; a partir de maio, entretanto, assumiu um movimento de queda, que se transformou em um desempenho extraordinariamente baixo em junho. A oscilação no uso da força pelas polícias reforça a dissonância entre a letalidade policial e as dinâmicas criminais no Rio de Janeiro, configurando-se como um contexto relevante para a compreensão da violência policial fluminense.

Evaluation of Genotype-Based Gene Expression Model Performance: A Cross-Framework and Cross-Dataset Study.

Predicting gene expression from genotyped data is valuable for studying inaccessible tissues such as the brain. Herein we present eGenScore, a polygenic/poly-variation method, and compare it with PrediXcan, a method based on regularized linear regression using elastic nets. While both methods have the same purpose of predicting gene expression based on genotype, they carry important methodological differences. We compared the performance of expression quantitative trait loci (eQTL) models to predict gene expression in the frontal cortex, comparing across these frameworks (eGenScore vs. PrediXcan) and training datasets (BrainEAC, which is brain-specific, vs. GTEx, which has data across multiple tissues). In addition to internal five-fold cross-validation, we externally validated the gene expression models using the CommonMind Consortium database. Our results showed that (1) PrediXcan outperforms eGenScore regardless of the training database used; and (2) when using PrediXcan, the performance of the eQTL models in frontal cortex is higher when trained with GTEx than with BrainEAC.

Crime e policiamento durante a pandemia de COVID-19 no Rio de Janeiro, Brasil / Crime and police activity during the COVID-19 pandemic in Rio de Janeiro, Brazil

Resumo Este trabalho analisa os indicadores de Segurança Pública no Rio de Janeiro durante os primeiros meses da pandemia de COVID-19. Os resultados demonstram uma queda ampla nos índices de atividade criminal a partir de abril, em especial nos delitos contra o patrimônio, cujo nível de ocorrência foi particularmente incomum para o padrão anterior dos dados. Esse comportamento parece estar associado à retração no fluxo de pessoas em áreas do estado. Para os bairros em que se tem informação de deslocamento, é possível demonstrar que as reduções mais expressivas de roubos de rua ocorreram onde houve maior diminuição na circulação de pessoas. As atividades policiais registraram uma redução semelhante aos indicadores criminais, em particular as apreensões de drogas e as prisões. A exceção a esse cenário foi representada pelo número de mortes por intervenção de agentes do Estado: em abril, esse indicador observou um aumento superior à média dos últimos quatro anos; a partir de maio, entretanto, assumiu um movimento de queda, que se transformou em um desempenho extraordinariamente baixo em junho. A oscilação no uso da força pelas polícias reforça a dissonância entre a letalidade policial e as dinâmicas criminais no Rio de Janeiro, configurando-se como um contexto relevante para a compreensão da violência policial fluminense.

Abstract This paper analyzes crime reports and police activity in Rio de Janeiro during the first months of the COVID-19 pandemic. The results indicate there was an overall drop in crime rates starting in April, especially in property crimes, which plummet to extremely unusual levels when compared with previous patterns. This pattern is most likely associated with an unprecedented decline in public mobility in some areas of the state. We show that the most significant reductions in street robberies occurred in neighborhoods where there was a greater decline in presence on the streets. Measures of police activity, in particular drug seizures and different types of arrests, displayed a reduction comparable with the drop in criminal indicators. In contrast, the number of police killings followed a unique pattern: in April, immediately after the adoption of social distance measures, this indicator increased above the average from the previous four years; as of May, however, it assumed a downward trend, which turned into extraordinarily low levels in June. The extreme variation in the use of force by the police during the pandemic reinforces the documented dissonance between police lethality and criminal dynamics in Rio de Janeiro, shedding light on the mechanisms that regulate police violence in the state.

Patient-reported outcome measure for children and young people with amelogenesis imperfecta.

Background Amelogenesis imperfecta (AI) is a genetic enamel defect that can affect both the primary and permanent dentition. It has a range of clinical phenotypes, and children and young people often present with challenging oral health needs. Patient-reported outcome measures (PROMs) can identify key patient concerns.Methods This was a multi-centre service evaluation across several specialist paediatric dentistry services in the UK. A PROM questionnaire was created with clinician and patient input, through peer review with the national AI Clinical Excellence Network, as well as piloting the PROM with ten children and young people with AI. The final PROM questionnaire was distributed to all patients with AI attending each unit between January and March 2020.Results Sixty children and young people (aged 5-17 years) across four specialist units participated, with 72% reporting that they 'often' or 'sometimes' experienced pain or sensitivity and 76% reporting that they 'often' or 'sometimes' felt unhappy with the way their teeth look. Of the patients who were post-treatment, 81% indicated that they were happy with their teeth, compared to just 41% of patients who were mid-treatment and 33% of patients who were pre-treatment.Conclusion Children and young people with AI experience a range of issues related to their function and psychosocial wellbeing. This simple PROM demonstrates the range of issues this group of patients face, and could be used to monitor an individual's progress to ensure that treatment is planned to address the patient's individual concerns and needs.

Disseminated Tuberculosis With Cardiac Tamponade in an Immunocompetent Individual.

We report a case of disseminated tuberculosis with cardiac tamponade in a 26-year-old man from northern Portugal. He was imprisoned for one year before the diagnosis and had no known immunosuppressing conditions. A high level of suspicion with a detailed review of risk factors and exposure history (e.g., in this case, imprisonment is a risk factor for tuberculosis) is necessary when pursuing a diagnosis of extrapulmonary tuberculosis and treatment should be started as soon as possible when life-threatening manifestations occur. We used a 12-month course of antituberculosis agents associated with steroids, in our case. The patient had a good clinical response and no signs of disease at the end of the treatment.

A Systematic Analysis of Metal and Metalloid Concentrations in Eight Zebrafish Recirculating Water Systems.

Metals and metalloids are integral to biological processes and play key roles in physiology and metabolism. Nonetheless, overexposure to some metals or lack of others can lead to serious health consequences. In this study, eight zebrafish facilities collaborated to generate a multielement analysis of their centralized recirculating water systems. We report a first set of average concentrations for 46 elements detected in zebrafish facilities. Our results help to establish an initial baseline for trouble-shooting purposes, and in general for safe ranges of metal concentrations in recirculating water systems, supporting reproducible scientific research outcomes with zebrafish.