Need for integration of genetic counselors in the Portuguese healthcare: Their added value from the medical geneticists perspective.

Genetic counseling plays a crucial role in providing individuals and families with comprehensive information, support, and guidance regarding genetic conditions. This article explores the benefits of the integration of the genetic counselor (GC) professional in Portugal and based on evidence collected from two focus group comprising Portuguese medical geneticists. The findings highlight the agreement of medical geneticists on the relevancy of GCs' integration into national healthcare as well as the need for education and training programs to enhance the genetics literacy of other healthcare professionals and increase public awareness and support for genetic counseling services. By incorporating GCs and adopting some actions suggested by participants as part of a future national strategy, Portugal can improve access to personalized genetic services and empower individuals to make informed decisions about their genetic health.

A ferric reductase of Trypanosoma cruzi (TcFR) is involved in iron metabolism in the parasite.

Trypanosoma cruzi is a parasitic protozoan that infects various species of domestic and wild animals, triatomine bugs and humans. It is the etiological agent of American trypanosomiasis, also known as Chagas Disease, which affects about 17 million people in Latin America and is emerging elsewhere in the world. Iron (Fe) is a crucial micronutrient for almost all cells, acting as a cofactor for several metabolic enzymes. T. cruzi has a high requirement for Fe, using heminic and non-heminic Fe for growth and differentiation. Fe occurs in the oxidized (Fe3+) form in aerobic environments and needs to be reduced to Fe2+ before it enters cells. Fe-reductase, located in the plasma membranes of some organisms, catalyzes the Fe3+⇒ Fe2+ conversion. In the present study we found an amino acid sequence in silico that allowed us to identify a novel 35 kDa protein in T. cruzi with two transmembrane domains in the C-terminal region containing His residues that are conserved in the Ferric Reductase Domain Superfamily and are required for catalyzing Fe3+ reduction. Accordingly, we named this protein TcFR. Intact epimastigotes from the T. cruzi DM28c strain reduced the artificial Fe3+-containing substrate potassium ferricyanide in a cell density-dependent manner, following Michaelis-Menten kinetics. The TcFR activity was more than eightfold higher in a plasma membrane-enriched fraction than in whole homogenates, and this increase was consistent with the intensity of the 35 kDa band on Western blotting images obtained using anti-NOX5 raised against the human antigen. Immunofluorescence experiments demonstrated TcFR on the parasite surface. That TcFR is part of a catalytic complex allowing T. cruzi to take up Fe from the medium was confirmed by experiments in which DM28c was assayed after culturing in Fe-depleted medium: (i) proliferation during the stationary growth phase was five times slower; (ii) the relative expression of TcFR (qPCR) was 50% greater; (iii) intact cells had 120% higher Fe-reductase activity. This ensemble of results indicates that TcFR is a conserved enzyme in T. cruzi, and its catalytic properties are modulated in order to respond to external Fe fluctuations.

The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists.

In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, serious limitations persist, compromising the functioning of healthcare in medical genetics. This study aimed to promote sharing and discussion among genetic medical professionals, to outline concrete actions to address gaps in clinical practice. Three focus groups were conducted with 19 specialists in medical genetics. The data were analyzed using the thematic analysis method to extract the main themes from the discussions. From the analysis, four conceptual themes emerged: (i) framing Portuguese genetic services in light of the European context; (ii) improvement of medical genetics education and population literacy; (iii) transforming of medical genetics services; and (iv) operationalizing the change. The results demonstrated that increasing training resources and strengthening multiprofessional teams by hiring more genetic professionals, such as clinical geneticists, molecular geneticists, and other genetic specialists, is crucial to enhancing the responsiveness of genetic services. Integrating medical genetics into all specialties and primary care, as well as updating the national network of medical genetics, are critical points for increasing equity and enabling healthcare to be provided more fairly. Including other medical genetics professionals such as genetic counsellors, nurses and psychologists also plays a significant role in providing comprehensive and quality care. This collaborative approach aims to provide effective genetic assistance and enhance the adequacy of genetic healthcare. The findings are compiled as recommendations to support the profession moving forward that can be applied to other healthcare contexts worldwide.

Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal.

In recent years, there has been a significant technological evolution in the field of genetics, leading to an increase in the number of professionals working in medical genetics and, consequently, a tremendous growth in genetic counselling. At the same time, there has been a growing recognition of the parameters on which to base a safe practice, not only regarding the technical skills of the professional but also regarding their counselling skills, including relational and empathy skills and the acknowledgement of the emotional impact that genetic counselling practice can have. However, despite this growing knowledge, there are still significant differences between the various European countries, and one area where this discrepancy is particularly evident is genetic counselling supervision. Thus, if there are countries where genetic counselling supervision is not even known by the professionals, there are others where it is mandatory for practice. This research had as an objective to understand if and how genetic counselling supervision is provided in Portugal, to identify routines, challenges and impacts of genetic counselling that should be explored in a supervision process and comprehend how professionals believe supervision should be conducted to be effective. A total of sixteen medical geneticists from main Portuguese genetic services were present in two online focus groups. None of the participants had access to genetic counselling supervision as a programmed routine and there was a consensus that a service of this kind would be particularly important for the professionals as genetic counselling has frequently challenging and emotional moments. Aspects regarding clinical supervision, the characteristics of the supervisor and the practical aspects of genetic counselling supervision implementation were also mentioned during the discussions. These results highlight the relevancy of the establishment of GC supervision routines and standardized guidelines in our country, as well as a need for evidence-based research focused on its impact at professional and practice level.

What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective.

Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.

An European overview of genetic counselling supervision provision.

Genetic testing is becoming more commonplace in general and specialist health care, and should always be accompanied by genetic counselling, according to legislation in many European countries and recommendations by professional bodies. Personal and professional competence is necessary to provide safe and effective genetic counselling. Clinical and counselling supervision of genetics healthcare practitioners plays a key role in quality assurance, providing a safe environment not only for patients but for professionals too. However, in many European countries, genetic counsellors are still an emerging professional group and counselling supervision is not routinely offered and there are no enough evidences on the impact of these insufficiencies. This study aimed to explore the current status of genetic counselling supervision provision across Europe and to ascertain factors that might be relevant for the successful implementation of counselling supervision. A total of 100 practitioners responded to an online survey; respondents were from 18 countries, with the majority working in France (27%) and Spain (17%). Only 34 participants reported having access to genetic counselling supervision. Country of origin, the existence of a regulation system and years of experience were factors identified as relevant, influencing access and characteristics of counselling supervision. Although there is a growing number of genetic counsellors trained at European level, just a few countries have implemented and required as mandatory the access to genetic counselling supervision. Nevertheless, this is essential to ensure a safe and effective genetic counselling and should be regulated at the European genetic healthcare services.

Análise da qualidade de vida em pacientes pediátricos com alergia alimentar / Quality of life assessment in pediatric patients with food allergy

Introdução: A alergia alimentar pode afetar o bem-estar dos pacientes e de seus familiares. Esse trabalho busca, por meio de questionário validado, investigar a qualidade de vida desses pacientes, acompanhados em um centro de tratamento multidisciplinar. Métodos: Pacientes entre 0 e 18 anos, monitorados no Ambulatório de Alergia Alimentar do Hospital Infantil João Paulo II entre 2012 e 2017, foram selecionados para responder a um questionário de avaliação de qualidade de vida com coleta de informações acerca do tipo de alergia, sua apresentação clínica, presença de dermatite atópica, prescrição ou não de kit de Adrenalina®, tempo de acompanhamento no serviço e tempo de acompanhamento por nutricionista. Resultados: Foram incluídos 77 pacientes, com idade média de 3,38 anos, em sua maioria revelando qualidade de vida regular (43%) e com acompanhamento no Serviço inferior a seis meses (52%). Daqueles acompanhados por nutricionista, 52,4% o faziam há menos de seis meses. Alergia IgE mediada foi identificada em 51% dos sujeitos da pesquisa, com 66,66% dos mesmos sob prescrição de kit de Adrenalina®. Não houve associação estatisticamente significativa entre qualidade de vida e as variáveis analisadas. Conclusão: O questionário de qualidade de vida é um importante instrumento de avaliação de pacientes com alergia alimentar, permitindo traçar o perfil dos mesmos e atuar individualmente nos quesitos que impactam negativamente o seu dia a dia.

Background: Food allergy can affect the well-being of patients and their families. Objective: To investigate the quality of life of patients with food allergy followed up at a multidisciplinary treatment center using a validated questionnaire. Methods: Patients aged 0 to 18 years followed up at the Food Allergy Outpatient Clinic of João Paulo II Pediatric Hospital between 2012 and 2017 were invited to answer a quality-of-life assessment questionnaire for information on type of allergy, clinical presentation, presence of atopic dermatitis, prescription of an epinephrine kit, duration of follow-up at the clinic, and duration of follow-up with a dietitian. Results: A total of 77 patients were included, with a mean age of 3.38 years. Most participants rated their quality of life as fair (43%) and had less than 6 months of outpatient follow-up (52%). From those meeting with a dietitian, 52.4% had less than 6 months of follow-up. Immunoglobulin E (IgE)-mediated allergy was identified in 51% of participants, and 66.66% of them required an epinephrine kit. There was no statistically significant association between quality of life and the study variables. Conclusion: A quality-of-life assessment questionnaire is an important tool for evaluating patients with food allergy, allowing us to profile these patients and to act individually on issues that might negatively impact their daily lives.

Awake examination versus DISE for surgical decision making in patients with OSA: A systematic review.

OBJECTIVE: Traditionally, upper airway examination is performed while the patient is awake. However, in the past two decades, drug-induced sleep endoscopy (DISE) has been used as a method of tridimensional evaluation of the upper airway during pharmacologically induced sleep. This study aimed to systematically review the evidence regarding the usefulness of DISE compared with that of traditional awake examination for surgical decision making in patients with obstructive sleep apnea (OSA). DATA SOURCES: Scopus, PubMed, and Cochrane Library databases were searched. REVIEW METHODS: Only studies with a primary objective of evaluating the usefulness of DISE for surgical decision making in patients with OSA were selected. The included studies directly compared awake examination data with DISE outcome data in terms of possible influences on surgical decision making and operation success. RESULTS: A total of eight studies with 535 patients were included in this review. Overall, the surgical treatment changed after DISE in 50.24% (standard deviation 8.4) cases. These changes were more frequently associated with structures contributing to hypopharyngeal or laryngeal obstruction. However, these differences do not automatically indicate a higher success rate. CONCLUSION: This review emphasized the direct impact of DISE compared with that of awake examination on surgical decision making in OSA patients. However, it is also clear that the available published studies lack evidence on the association between this impact and surgical outcomes. Laryngoscope, 126:768-774, 2016.

Achados epidemiológicos de alergia alimentar em crianças brasileiras: análise de 234 testes de provocação duplo-cego placebo-controlado (TPDCPCs) / Epidemiological findings in food allergic Brazilian children: an analysis of 234 double-blind placebo-controlled food challenge (DBPCFC) tests

Introdução: Os dados sobre prevalência de alergia alimentar são escassos e limitados no Brasil. Este trabalho objetiva descrever as características clínicas de crianças brasileiras com alergia alimentar diagnosticada através de teste de provocação duplo-cego placebo-controlado (TPDCPC). Métodos: Dos pacientes avaliados, foram selecionadas, de forma prospectiva, no Ambulatório de Alergia e Pneumologia Pediátrica, 234 crianças com suspeita clínica de alergia alimentar e teste alérgico positivo para alimento, no período de 1993 a 2005. Para confirmar o diagnóstico de alergia alimentar, foram realizados TPDCPCs com o alimento suspeito. Resultados: Dos 234 TPDCPCs realizados, 30 foram positivos (12,8%), sendo mais frequentes em crianças abaixo de dois anos e do sexo masculino. Dos testes positivos, 26 (86,6%) foram positivos para ovo ou leite de vaca. Pacientes com diagnóstico inicial de dermatite atópica ou alergia gastrointestinal apresentaram TPDCPC positivo mais frequentemente do que pacientes com sintomas respiratórios. Entre os sintomas apresentados durante o TPDCPC, prevaleceram os sintomas cutâneos (60%) e respiratórios (56,67%). Conclusão: A incidência de alergia alimentar na população com suspeita clínica foi de 12,8%. Leite de vaca e ovo são os principais alimentos responsáveis pela alergia alimentar em nosso meio, que é mais frequente em crianças abaixo de dois anos. O teste alérgico positivo é um fraco preditor de alergia alimentar (VPP = 13,5%), mas o teste alérgico negativo praticamente afasta o diagnóstico, pois o seu valor preditivo negativo na população estudada foi próximo de 100%.

Introduction: Data on the prevalence of food allergy are scarce and limited in Brazil. This work aims to describe the clinical characteristics of Brazilian children with food allergy, diagnosed through the Double-Blind Placebo-Controlled Food Challenge (DBPCFC). Methods: Of the evaluated patients, 234 children with clinical suspicion of food allergy and positive food allergy test between 1993 and 2005 were selected prospectively in a Pediatric Allergy and Pneumology Clinic. In order to confirm the diagnosis of food allergy, the DBPCFC was used with suspected allergenic food. Results: Of the 234 TPDCPCs performed, 30 tests were positive (12.8%), more frequently in children less than two years old and male sex. Of these positive tests, 26 (86.6%) were positive for eggs or cow's milk. Patients with initial diagnosis of atopic dermatitis or gastrointestinal allergy had a positive TPDCPC more frequently than patients with respiratory symptoms. Among the symptoms presented during the TPDCPC, cutaneous (60%) and respiratory symptoms (56.67%) prevailed. Conclusion: The incidence of food allergy in the clinically suspected population was 12.8%. Cow's milk and eggs are the main foods responsible for food allergy in our setting, and they are more common in children less than two years old. A positive allergic test is a poor predictor of food allergy (PPV = 13.5%), but a negative allergic test virtually eliminates this diagnosis, as its negative predictive value in the studied population was close to 100%.