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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.
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Serviço de Farmácia Hospitalar , Relações Profissional-Paciente , Humanos , Feminino , Idoso de 80 Anos ou mais , Estudos Transversais , Farmacêuticos , Encaminhamento e Consulta , Comunicação , Preparações FarmacêuticasRESUMO
BACKGROUND: Delivery of pain-free dentistry is crucial for reducing fear and anxiety, completion of treatment, and increasing acceptance of future dental treatment in children. Local anaesthetic (LA) facilitates this pain-free approach but it remains challenging. A number of interventions to help children cope with delivery of LA have been described, with no consensus on the best method to increase its acceptance. OBJECTIVES: To evaluate the effects of methods for acceptance of LA in children and adolescents during dental treatment. SEARCH METHODS: Cochrane Oral Health's Information Specialist searched the Cochrane Oral Health's Trials Register (to 24 May 2019); the Cochrane Central Register of Controlled Trials (CENTRAL; 2019 Issue 4) in the Cochrane Library (searched 24 May 2019); MEDLINE Ovid (1946 to 24 of May 2019); Embase Ovid (1980 to 24 May 2019); and Web of Science (1900 to 24 May 2019). The US National Institutes of Health Ongoing Trials Register (ClinicalTrials.gov) and World Health Organization International Clinical Trials Registry Platform were also searched to 24 May 2019. There were no restrictions on language or date of publications. SELECTION CRITERIA: Parallel randomised controlled trials (RCTs) of interventions used to increase acceptance of dental LA in children and adolescents under the age of 18 years. DATA COLLECTION AND ANALYSIS: We used standard methodological procedures expected by Cochrane. We performed data extraction and assessment of risk of bias independently and in duplicate. We contacted authors for missing information. We assessed the certainty of the body of evidence using GRADE. MAIN RESULTS: We included 26 trials with 2435 randomised participants aged between 2 and 16 years. Studies were carried out between 2002 and 2019 in dental clinics in the UK, USA, the Netherlands, Iran, India, France, Egypt, Saudi Arabia, Syria, Mexico, and Korea. Studies included equipment interventions (using several LA delivery devices for injection or audiovisual aids used immediately prior to or during LA delivery or both) and dentist interventions (psychological behaviour interventions delivered in advance of LA (video modelling), or immediately prior to or during delivery of LA or both (hypnosis, counter-stimulation). We judged one study to be at low risk and the rest at high risk of bias. Clinical heterogeneity of the included studies rendered it impossible to pool data into meta-analyses. None of the studies reported on our primary outcome of acceptance of LA. No studies reported on the following secondary outcomes: completion of dental treatment, successful LA/painless treatment, patient satisfaction, parent satisfaction, and adverse events. Audiovisual distraction compared to conventional treatment: the evidence was uncertain for the outcome pain-related behaviour during delivery of LA with a reduction in negative behaviour when 3D video glasses where used in the audiovisual distraction group (risk ratio (RR) 0.13, 95% confidence interval (CI) 0.03 to 0.50; 1 trial, 60 participants; very low-certainty evidence). The wand versus conventional treatment: the evidence was uncertain regarding the effect of the wand on pain-related behaviour during delivery of LA. Four studies reported a benefit in using the wand while the remaining studies results suggested no difference between the two methods of delivering LA (six trials, 704 participants; very low-certainty evidence). Counter-stimulation/distraction versus conventional treatment: the evidence was uncertain for the outcome pain experience during delivery of LA with children experiencing less pain when counter-stimulation was used (RR 0.12, 95% CI 0.04 to 0.34; 1 trial, 134 participants; very low-certainty evidence). Hypnosis versus conventional treatment: the evidence was uncertain for the outcome pain experience during delivery of LA with participants in the hypnosis group experiencing less pain (mean difference (MD) -1.79, 95% CI -3.01 to -0.57; 1 trial, 29 participants; very low-certainty evidence). Other comparisons considered included pre-cooling of the injection site, the wand versus Sleeper One, the use of a camouflage syringe, use of an electrical counter-stimulation device, and video modelling acclimatisation, and had a single study each. The findings from these other comparisons were insufficient to draw any affirmative conclusions about their effectiveness, and were considered to be very low-certainty evidence. AUTHORS' CONCLUSIONS: We did not find sufficient evidence to draw firm conclusions as to the best interventions to increase acceptance of LA in children due to variation in methodology and nature/timing of outcome measures. We recommend further parallel RCTs, reported in line with the CONSORT Statement. Care should be taken when choosing outcome measures.
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Anestésicos Locais/administração & dosagem , Assistência Odontológica para Crianças/métodos , Adolescente , Anestesia Dentária , Criança , Pré-Escolar , Humanos , Manejo da Dor , Satisfação do Paciente , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
The authors present the case of a previously healthy, 22-year-old male nonsmoker who sought emergency room treatment complaining of retrosternal pain. He reported a history of odynophagia two days before, followed by produc- tive cough, fever and dyspnea. On chest radiography, a line could be observed surrounding the heart and the continuous diaphragm sign. The chest computed tomography scan confirmed the presence of pneumomediastinum and soft tissue emphysema. The case was discussed in a multidisciplinary team, and the possibility of surgical intervention was rejected. Conservative treatment was decided with complete resolution of the pneumomediastinum.
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Enfisema Mediastínico , Enfisema Subcutâneo , Adulto , Dor no Peito , Dispneia , Humanos , Masculino , Enfisema Mediastínico/diagnóstico , Enfisema Subcutâneo/diagnóstico , Síndrome , Adulto JovemRESUMO
BACKGROUND: Basal-like breast cancer (BLBC) is a poor prognosis subgroup of triple-negative carcinomas that still lack specific target therapies and accurate biomarkers for treatment selection. P-cadherin is frequently overexpressed in these tumors, promoting cell invasion, stem cell activity and tumorigenesis by the activation of Src-Family kinase (SRC) signaling. Therefore, our aim was to evaluate if the treatment of BLBC cells with dasatinib, the FDA approved SRC inhibitor, would impact on P-cadherin induced tumor aggressive behavior. METHODS: P-cadherin and SRC expression was evaluated in a series of invasive Breast Cancer and contingency tables and chi-square tests were performed. Cell-cell adhesion measurements were performed by Atomic Force Microscopy, where frequency histograms and Gaussian curves were applied. 2D and 3D cell migration and invasion, proteases secretion and self-renew potential were evaluated in vitro. Student's t-tests were used to determine statistically significant differences. The cadherin/catenin complex interactions were evaluated by in situ proximity-ligation assay, and statistically significant results were determined by using Mann-Whitney test with a Bonferroni correction. In vivo xenograft mouse models were used to evaluate the impact of dasatinib on tumor growth and survival. ANOVA test was used to evaluate the differences in tumor size, considering a confidence interval of 95%. Survival curves were estimated by the Kaplan-Meier's method, using the log-rank test to assess significant differences for mice overall survival. RESULTS: Our data demonstrated that P-cadherin overexpression is significantly associated with SRC activation in breast cancer cells, which was also validated in a large series of primary tumor samples. SRC activity suppression with dasatinib significantly prevented the in vitro functional effects of P-cadherin overexpressing cells, as well as their in vivo tumorigenic and metastatic ability, by increasing mice overall survival. Mechanistically, SRC inhibition affects P-cadherin downstream signaling, rescues the E-cadherin/p120-catenin complex to the cell membrane, recovering cell-cell adhesion function. CONCLUSIONS: In conclusion our findings show that targeting P-cadherin/SRC signaling and functional activity may open novel therapeutic opportunities for highly aggressive and poor prognostic basal-like breast cancer.
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Neoplasias da Mama/patologia , Caderinas/metabolismo , Inibidores de Proteínas Quinases/farmacologia , Transdução de Sinais/efeitos dos fármacos , Quinases da Família src/antagonistas & inibidores , Animais , Carcinogênese/efeitos dos fármacos , Cateninas/metabolismo , Adesão Celular/efeitos dos fármacos , Linhagem Celular Tumoral , Membrana Celular/efeitos dos fármacos , Membrana Celular/metabolismo , Dasatinibe/farmacologia , Feminino , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Humanos , Camundongos , Metástase Neoplásica , delta CateninaRESUMO
Despite the increasing awareness of the relevance of empathy in patient care, some findings suggest that medical schools may be contributing to the deterioration of students' empathy. Therefore, it is important to clarify the magnitude and direction of changes in empathy during medical school. We employed a scoping review to elucidate trends in students' empathy changes/differences throughout medical school and examine potential bias associated with research design. The literature published in English, Spanish, Portuguese and French from 2009 to 2016 was searched. Two-hundred and nine potentially relevant citations were identified. Twenty articles met the inclusion criteria. Effect sizes of empathy scores variations were calculated to assess the practical significance of results. Our results demonstrate that scoped studies differed considerably in their design, measures used, sample sizes and results. Most studies (12 out of 20 studies) reported either positive or non-statistically significant changes/differences in empathy regardless of the measure used. The predominant trend in cross-sectional studies (ten out of 13 studies) was of significantly higher empathy scores in later years or of similar empathy scores across years, while most longitudinal studies presented either mixed-results or empathy declines. There was not a generalized international trend in changes in students' empathy throughout medical school. Although statistically significant changes/differences were detected in 13 out of 20 studies, the calculated effect sizes were small in all but two studies, suggesting little practical significance. At the present moment, the literature does not offer clear conclusions relative to changes in student empathy throughout medical school.
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Empatia , Estudantes de Medicina/psicologia , Educação Médica , Humanos , Faculdades de MedicinaRESUMO
Wnt signaling plays a central role in mammary stem cell (MaSC) homeostasis and in breast cancer. In particular, epigenetic alterations at different members of the Wnt pathway have been identified among triple-negative, basal-like breast cancers. Previously, we developed a mouse model for metaplastic breast adenocarcinoma, a subtype of triple-negative breast cancer, by targeting a hypomorphic mutations in the endogenous Apc gene (Apc (1572T/+)). Here, by employing the CD24 and CD29 cell surface antigens, we have identified a subpopulation of mammary cancer stem cells (MaCSCs) from Apc (1572T/+) capable of self-renewal and differentiation both in vivo and in vitro. Moreover, immunohistochemical analysis of micro- and macrolung metastases and preliminary intravenous transplantation assays suggest that the MaCSCs underlie metastasis at distant organ sites. Expression profiling of the normal and tumor cell subpopulations encompassing MaSCs and CSCs revealed that the normal stem cell compartment is more similar to tumor cells than to their own differentiated progenies. Accordingly, Wnt signaling appears to be active in both the normal and cancer stem cell compartments, although at different levels. By comparing normal with cancer mouse mammary compartments, we identified a MaCSC gene signature able to predict outcome in breast cancer in man. Overall, our data indicate that constitutive Wnt signaling activation affects self-renewal and differentiation of MaSCs leading to metaplasia and basal-like adenocarcinomas.
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Neoplasias Mamárias Experimentais/metabolismo , Neoplasias Mamárias Experimentais/patologia , Células-Tronco Neoplásicas/patologia , Via de Sinalização Wnt/fisiologia , Adenocarcinoma/metabolismo , Adenocarcinoma/patologia , Animais , Neoplasias da Mama/genética , Neoplasias da Mama/mortalidade , Antígeno CD24/metabolismo , Diferenciação Celular , Feminino , Humanos , Integrina beta1/metabolismo , Glândulas Mamárias Animais/citologia , Camundongos , Camundongos Transgênicos , Células-Tronco Neoplásicas/metabolismo , Valor Preditivo dos Testes , Valores de Referência , Transcriptoma , Proteína Wnt1/genética , Proteína Wnt1/metabolismoRESUMO
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.
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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.
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The role of estrogens in prostate cancer (PCa) is shrouded in mystery, with its actions going from angelic to devilish. The findings by Huggins and Hodges establishing PCa as a hormone-sensitive cancer have provided the basis for using estrogens in therapy. However, despite the clinical efficacy in suppressing tumor growth and the panoply of experimental evidence describing its anticarcinogenic effects, estrogens were abolished from PCa treatment because of the adverse secondary effects. Notwithstanding, research work over the years has continued investigating the effects of estrogens, reporting their pros and cons in prostate carcinogenesis. In contrast with the beneficial therapeutic effects, many reports have implicated estrogens in the disruption of prostate cell fate and tissue homeostasis. On the other hand, epidemiological data demonstrating the lower incidence of PCa in Eastern countries associated with a higher consumption of phytoestrogens support the beneficial role of estrogens in counteracting cancer development. Many studies have investigated the effects of phytoestrogens and the underlying mechanisms of action, which may contribute to developing safe estrogen-based anti-PCa therapies. This review compiles the existing data on the anti- and protumorigenic actions of estrogens and summarizes the anticancer effects of several phytoestrogens, highlighting their promising features in PCa treatment.
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Inactivation of the tissue kallikrein gene in mice impairs renal handling of potassium due to enhanced H, K-ATPase activity, and induces hyperkalemia. We investigated whether the R53H loss-of-function polymorphism of the human tissue kallikrein gene affects renal potassium handling. In a crossover study, 30 R53R homozygous and 10 R53H heterozygous healthy males were randomly assigned to a low-sodium/high-potassium or a high-sodium/low-potassium diet to modulate tissue kallikrein synthesis. On the seventh day of each diet, participants were studied before and during a 2-h infusion of furosemide to stimulate distal potassium secretion. Urinary kallikrein activity was significantly lower in R53H than in R53R subjects on the low-sodium/high-potassium diet and was similarly reduced in both genotypes on high-sodium/low-potassium. Plasma potassium and renal potassium reabsorption were similar in both genotypes on an ad libitum sodium/potassium diet or after 7 days of a high-sodium/low-potassium diet. However, the median plasma potassium was significantly higher after 7 days of low-sodium/high-potassium diet in R53H than in R53R individuals. Urine potassium excretion and plasma aldosterone concentrations were similar. On the low-sodium/high-potassium diet, furosemide-induced decrease in plasma potassium was significantly larger in R53H than in R53R subjects. Thus, impaired tissue kallikrein stimulation by a low-sodium/high-potassium diet in R53H subjects with partial tissue kallikrein deficiency highlights an inappropriate renal adaptation to potassium load, consistent with experimental data in mice.
Assuntos
Rim/metabolismo , Potássio na Dieta/metabolismo , Calicreínas Teciduais/genética , Adaptação Fisiológica , Adulto , Aldosterona/sangue , Estudos Cross-Over , Dieta Hipossódica , Furosemida/administração & dosagem , Voluntários Saudáveis , Heterozigoto , Homozigoto , Humanos , Infusões Intravenosas , Rim/efeitos dos fármacos , Masculino , Fenótipo , Potássio na Dieta/administração & dosagem , Potássio na Dieta/sangue , Potássio na Dieta/urina , Cloreto de Sódio na Dieta/metabolismo , Inibidores de Simportadores de Cloreto de Sódio e Potássio/administração & dosagem , Fatores de Tempo , Calicreínas Teciduais/deficiênciaRESUMO
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.
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Atividades Cotidianas , Bem-Estar Psicológico , Humanos , Adulto , Idoso , Idoso de 80 Anos ou mais , Portugal , Envelhecimento/psicologia , Vida IndependenteRESUMO
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.
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Gagueira , Pré-Escolar , Humanos , Masculino , Ansiedade , Emoções , Portugal/epidemiologia , Fala , Gagueira/diagnóstico , Gagueira/epidemiologia , Gagueira/terapia , FemininoRESUMO
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.
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Hormônio do Crescimento Humano , Síndrome de Prader-Willi , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Hormônio do Crescimento , Hormônio do Crescimento Humano/uso terapêutico , Portugal , Síndrome de Prader-Willi/tratamento farmacológico , Síndrome de Prader-Willi/induzido quimicamente , Síndrome de Prader-Willi/diagnóstico , Estudos Retrospectivos , Medicina EstatalRESUMO
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.
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Fibrilação Atrial , Calcinose , Transtornos Cerebrovasculares , Doença da Artéria Coronariana , Idoso de 80 Anos ou mais , Fibrilação Atrial/diagnóstico , Calcinose/diagnóstico por imagem , Doença da Artéria Coronariana/diagnóstico por imagem , Feminino , HumanosRESUMO
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.
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Transtorno Autístico , Atitude do Pessoal de Saúde , Cuidadores , Criança , Assistência Odontológica , Odontólogos , Humanos , Reino UnidoRESUMO
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.
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Seio Pilonidal , Dermatopatias , Humanos , Criança , Adolescente , Seio Pilonidal/cirurgia , Estudos Retrospectivos , Qualidade de Vida , Resultado do Tratamento , Recidiva Local de Neoplasia , RecidivaRESUMO
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.
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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.
Assuntos
Cinetocoros , Neoplasias , Segregação de Cromossomos , Cromossomos , Células HeLa , Humanos , Pontos de Checagem da Fase M do Ciclo Celular , Mitose , Neoplasias/metabolismo , Fuso Acromático/metabolismoRESUMO
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.
RESUMO
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.