Intolerância à lactose: diagnóstico clínico laboratorial e genético / Lactose intolerance: clinical and genetic diagnosis

Introdução: A intolerância à lactose é síndrome decorrente da má digestão do dissacarídeo lactose por deficiência da enzima lactase, gerando sintomas principalmente gastrintestinais. Ela envolve 4 causas principais: deficiência congênita de lactase; deficiência de lactase de desenvolvimento; intolerância primária à lactose; e deficiência secundária à lactase. Objetivo: Revisão da apresentação clínica da intolerância à lactose e os principais métodos disponíveis para seu diagnóstico clínico. Método: Revisão narrativa da base de dados PubMed, por meio das palavras-chave "lactose intolerance" e "genetic test" utilizando o descritor boleano and. Foram incluídos somente artigos em língua inglesa e publicados entre os anos de 2017 e 2022, totalizando 8 artigos. Resultado: O diagnóstico de intolerância à lactose relaciona-se com o seu tipo e utiliza-se dos principais métodos: teste oral de tolerância à lactose, teste genético, teste do hidrogênio expirado. Conclusão: Quanto aos métodos de diagnóstico, o teste do hidrogênio expirado é o de escolha, por não ser invasivo, possuir execução fácil e baixo custo. Entretanto, ele não dispensa associação com outras técnicas diagnósticas. O teste genético também é muito útil e sua vantagem é que não há necessidade da realização do teste oral de tolerância.

Introduction: Lactose intolerance is a syndrome resulting from maldigestion of the disaccharide lactose due to lactase enzyme deficiency causing symptoms mainly gastrointestinal. It involves 4 main causes: congenital lactase deficiency; developmental lactase deficiency; primary lactose intolerance; and secondary lactase deficiency. Objective: Review of the clinical presentation of lactose intolerance and the main methods available for its clinical diagnosis. Methods: Literature review in the PubMed database, using the keywords "lactose intolerance" and "genetic test" and using the Boolean data type and. Only articles in English and published between the years 2017 and 2022 were included, totalizing 8 articles. Results: The diagnosis of lactose intolerance is related to its type and uses the main diagnostic tests: oral lactose tolerance, genetic, expired hydrogen. Conclusion: Regarding diagnostic methods, the expired hydrogen test is the one of choice, as it is not invasive, is easy to perform and has low cost. However, it does not dispense association with other diagnostic techniques. Genetic testing is also very usefull and its advantage is that there is no need to use the oral lactose tolerance test.

Reposição de testosterona em mulheres cisgênero na menopausa / Testosterone replacement in menopausal cisgender women

Ainda não existe consenso a respeito da prescrição de testosterona terapêutica para mulheres cisgênero na menopausa, seus benefícios e efeitos colaterais. Objetivo: Sumarizar os estudos recentes sobre o uso terapêutico da testosterona em mulheres na menopausa. Método: Revisão sistemática de literatura baseada nos dados da plataforma PubMed. Foram identificados 10.912 estudos potenciais. As palavras-chave usadas foram "testosterone", "women", "therapy", "treatment". Selecionou-se revisões sistemáticas e metanálises dos últimos 5 anos, todas na língua inglesa. Excluiram-se artigos duplicados, os que abordam uso de testosterona como anabolizantes e/ou em atletas e em transexuais e estudos que envolviam homens. O levantamento de dados foi realizado com 9 artigos. Resultados: O uso dessa terapia hormonal no período da pós-menopausa mostrou melhora dos sintomas sexuais. Há diferença entre as vias de aplicação, sendo que a via oral pode acarretar maiores prejuízos, principalmente em relação aos níveis lipídicos séricos. A testosterona intravaginal melhora a função sexual. A prescrição na prática se mostra um problema, pois as apresentações comercializadas não atendem à necessidade fisiológica feminina. Conclusão: A terapia mostra-se eficaz em curto prazo, apesar de ainda haver necessidade de estudos para uso em longo prazo

There is still no consensus regarding the prescription of testosterone therapy for cisgender menopausal woman, its benefits and side effects. Objective: Summarize recent studies on the therapeutic use of testosterone in menopausal woman. Methods: Systematic literature review based on data from the PubMed platform. A total of 10.912 potential studies were identified. The used keywords were "testosterone", "woman", "therapy", "treatment". Systematic reviews and meta-analyses from the last 5 years were selected, all in English. Were excluded: duplicated articles, the ones that address the use of testosterone as anabolic steroid and/or in athletes and transsexuals and studies that involved man. Tthe data collection was made with 9 articles. Results: The use of this hormone therapy in postmenopausal period showed sexual symptoms improvement. There are differences between the routes of administration, for the oral administration could lead to more damage, mainly related to the lipids serum levels. Intravaginal testosterone improves sexual function. The prescription in practice is shown to be a problem, since the commercialized presentations do not meet the feminine physiological necessities. Conclusion: This therapy proves to be effective in short term use, although there is still a need for studies for long-term use

Care the epicardial pacemaker wires.

A patient with previous CABG was hospitalized for fever and Staphylococcus aureus bacteraemia without cardiac involvement. After appropriate antibiotic cycle, the patient recovered and was discharged. Six months later, symptoms and bacteraemia relapsed. A small intriguing 'cystic' mass was visualized in the right atrium by echocardiography. Once again, was discharged after successful antibiotic treatment. Four months later, symptoms and Staphylococcus bacteraemia reappeared with increasing mass size and surgery was decided. Intraoperatively, it was perceived that the mass was related to an epicardial pacemaker wire. Retained epicardial wires should be remembered in endocarditis evaluation.

Quantitative analysis of air pollution and mortality in Portugal: Current trends and links following proposed biological pathways.

A wealth of studies focusing on the relationships between negative health outcomes and short-term and long-term exposures to environmental risk factors have produced estimates of the burden of disease attributable to air pollution, which have led to the implementation of air pollution control strategies. However, the call to expand those studies, in terms of geographical units of analysis to produce more accurate estimates of the burden of disease in the different countries has been made. Studies of the specific environment-health relationship concerning air pollution in Portugal are scarce and rather descriptive. Therefore, this work assesses the trends both in atmospheric levels of pollutants including particulate matter (PM10), ozone (O3), nitrogen dioxide (NO2) and sulphur dioxide (SO2), and in mortality rates for diabetes, malignant neoplasms and diseases of the respiratory, digestive and circulatory systems, and explores the links between exposure to air pollutants and mortality, following proposed biological pathways and using inferential statistics methods, for the period 2010 to 2017 in Portugal. The following major conclusions were drawn: (i) despite a somewhat initial downward trend in PM10 and a peak in O3 levels, fairly constant air pollution levels were mostly observed; (ii) concomitantly, increases in age-adjusted mortality rates were significant for all diseases except diabetes; (iii) lower atmospheric levels of pollutants were observed in rural areas, when compared to urban areas, except for ozone; (iv) age-adjusted mortality rates were higher in rural regions, for diabetes, and in urban regions, for malignant neoplasms; (v) for a 10 µg/m3 increase in atmospheric levels of PM10, regression analysis estimated an increase of 0.30% in the mortality rate for diseases of the respiratory, digestive and circulatory systems, and malignant neoplasms combined.

Food Supplements for Weight Loss: Risk Assessment of Selected Impurities.

Nowadays, food supplements are widely consumed, often without any medical supervision. In this study, 25 food supplements for weight loss, randomly purchased from five different suppliers in the European Union, were analysed by Wavelength Dispersive X ray Fluorescence spectrometry (WDXRF). The aim of this study was the risk assessment of trace elements and the mixture of elements present in food supplements for weight loss. The obtained Hazard Index (0.11) showed no potential risk of non-carcinogenic effects to human health. However, since humans are frequently exposed by different routes and/or sources to toxic metals, the additional consumption of these products may cause potential toxicological risks that cannot be ignored. In one analysed food supplement (FS), the simultaneous presence of Pb and Mn in high concentrations was detected. In two, FS chromium concentrations were above the reference daily dose. Unconformities were detected between the labelled and the detected values, which emphasises the misinformation of labels. This highlights the need for a deeper surveillance of food supplements.

Assessment of Human Health Risk of Toxic Elements Due to Cinnamon Ingestion in the Diet.

Recent studies highlighted the beneficial action of cinnamon on postprandial glycemia and LDL-cholesterol concentrations, both in healthy subjects and type 2 diabetic patients. Inclusion of 3 to 6 g of cinnamon in diet revealed a beneficial effect on glucose metabolism control in non-diabetic adults during postprandial period. Given the levels of toxic elements present in cinnamon species from different countries, such large daily intakes of cinnamon can easily exceed their maximum permissible limits and, consequently, induce adverse health effects. This study aimed to investigate the elemental concentration profile in cinnamon powder products available in the Portuguese market and to assess the cumulative non-carcinogenic risk to human health due to the exposure to mixtures of such elements through the inclusion of 6 g of cinnamon in diet. Concentrations of Cu, Zn, Fe, Al, Cl, Mn, and Sr were determined by wavelength dispersive X-ray fluorescence spectroscopy in different lots of eight branded and one bulk cinnamon powder products. Linear mixed models have revealed significant differences in concentrations of Zn, Fe, Al, and Cl between brands. In particular, bulk cinnamon samples presented the highest contents of Fe (475.0-490.0 mg kg-1) and Al (1139.0-1336.0 mg kg-1). The non-carcinogenic risk was assessed following EPA's guidelines through the hazard quotient (HQ). Estimated HQ values were lower than the USEPA guideline of 1. Additionally, the hazard index (HI), representing the combined non-carcinogenic effects of all toxic elements, revealed no potential human health risk for heavy consumers of cinnamon (HI = 0.660). AbstractGraphical ᅟ.

Development of a scale to evaluate mobility in dogs / Construção de uma escala de mobilidade do cão

ABSTRACT: The purpose of this study was to develop and to assess the psychometric characteristics of a mobility scale for dogs. The original ten questions were reduced using validation process. One hundred and twenty three dog owners were invited to answer the questionnaire. Internal consistency, factor analysis, floor and ceiling effect and construct validity were studied. Good internal consistency (Cronbach's Alpha=0.854) was determined with two items eliminated. The instrument comprises 8 final questions, each of which has five possible answers (never, rarely, sometimes, often and always) scored between 0 and 4 or between 4 and 0 (for the items with inverse score). Three hypotheses proposed for the construct validity were verified: 1) gender does not influence dog mobility (P=0.584); 2) mobility decreases with age (P<0.001); 3) dogs with orthopaedic or neurological diagnosed pathologies have less mobility (median score (P25; P75) 46.9% (31.3; 68.8)) than healthy dogs (median score (P25; P75) 81.3% (71.9; 93.8)) (P<0.001). Total score range was 0 to 32 points, with higher values indicating greater mobility of dogs. The Dog Mobility Scale was capable of assessing mobility in dogs, with good psychometric characteristics, and is simple and inexpensive to apply in clinical practice.

RESUMO: Este estudo teve como objetivos construir e avaliar as caraterísticas psicométricas de uma escala de mobilidade para cães. O questionário, constituído inicialmente por dez questões, foi submetido a um processo de validação, recorrendo à redução do número de questões. Cento e vinte e três donos de cão foram convidados a responder ao questionário. Foram estudados a consistência interna, a análise fatorial, os efeitos teto e chão e a validade de construto do instrumento. Foi encontrada uma boa consistência interna (Cronbach's Alpha=0.854) com a eliminação de dois itens. O questionário/escala final ficou composto por oito questões, cada qual com cinco respostas possíveis (nunca, raramente, às vezes, frequentemente e sempre) pontuadas entre zero e quatro ou entre quatro e zero (para os itens com pontuação inversa). Três hipóteses propostas para a validade de construto foram verificadas: 1) o gênero não influencia a mobilidade (P=0.584); 2) a mobilidade declina com o envelhecimento (P<0.001); 3) cães com patologia ortopédica ou neurológica diagnosticada apresentam menor mobilidade (median score (P25; P75) 46.9% (31.3; 68.8)) do que cães saudáveis (median score (P25; P75) 81.3% (71.9; 93.8)) (P<0.001). A escala final resulta numa pontuação de 0 a 32 pontos em que maior pontuação corresponde à maior mobilidade. A Escala de Mobilidade do Cão avaliou, com boas caraterísticas psicométricas, a mobilidade de um grupo díspar de cães, revelando-se simples e econômica na sua aplicação na prática clínica.

Role of N-acetylcysteine in protecting against 2,5-hexanedione neurotoxicity in a rat model: changes in urinary pyrroles levels and motor activity performance.

The interference of N-acetylcysteine (NAC) on 2,5-hexanedione (2,5-HD) neurotoxicity was evaluated through behavioral assays and the analysis of urinary 2,5-HD, dimethylpyrrole norleucine (DMPN), and cysteine-pyrrole conjugate (DMPN NAC), by ESI-LC-MS/MS, in rats exposed to 2,5-HD and co-exposed to 2,5-HD and NAC. Wistar rats were treated with 4 doses of: 400mg 2,5-HD/kg bw (group I), 400mg 2,5-HD/kg bw+200mg NAC/kg bw (group II), 200mg NAC/kg bw (group III) and with saline (group IV). The results show a significant decrease (p<0.01) in urinary DMPN and free 2,5-HD, a significant increase (p<0.01) in DMPN NAC excretion, and a significant recovery (p<0.01) on motor activity in rats co-exposed to 2,5-HD+NAC, as compared with rats exposed to 2,5-HD alone. Taken together, our findings suggest that at the studied conditions NAC protects against 2,5-HD neurotoxicity and DMPN may be proposed as a new sensitive and specific biomarker of 2,5-HD neurotoxicity in animals treated with a toxic amount of 2,5-hexanedione.

Serum Zn levels in dysphagic patients who underwent endoscopic gastrostomy for long term enteral nutrition.

BACKGROUND AND AIMS: Dysphagic patients who underwent endoscopic gastrostomy (PEG) usually present protein-energy malnutrition, but little is known about micronutrient malnutrition. The aim of the present study was the evaluation of serum zinc in patients who underwent endoscopic gastrostomy and its relationship with serum proteins, whole blood zinc, and the nature of underlying disorder. METHODS: From patients that underwent gastrostomy a blood sample was obtained minutes before the procedure. Serum and whole blood zinc was evaluated using Wavelength Dispersive X-ray Fluorescence Spectroscopy. Serum albumin and transferrin were evaluated. Patients were studied as a whole and divided into two groups: head and neck cancer (HNC) and neurological dysphagia (ND). RESULTS: The study involved 32 patients (22 males), aged 43-88 years: HNC = 15, ND = 17. Most (30/32) had low serum zinc, 17/32 presented normal values of whole blood zinc. Only two, with traumatic brain injury, presented normal serum zinc. Serum zinc levels showed no differences between HNC and ND patients. There was no association between serum zinc and serum albumin or transferrin. There was no association between serum and whole blood zinc. CONCLUSIONS: Patients had low serum zinc when gastrostomy was performed, similar in HNC and ND, being related with prolonged fasting and unrelated with the underlying disease. Decrease serum zinc was unrelated with low serum proteins. Serum zinc was more sensitive than whole blood zinc for identifying reduced zinc intake. Teams taking care of PEG-patients should include zinc evaluation as part of the nutritional assessment, or include systematic dietary zinc supply.

Objetivos: Pacientes con disfagia sometidos a Gastrostomía Endoscópica (PEG) presentan malnutrición calórico- proteica, mas poco se conoce acerca da malnutrición en micronutrientes. El objetivo del presente trabajo fue el estudio del zinc sérico en pacientes portadores de PEG y su relación con proteínas séricas, zinc de sangre total y enfermedades de base. Métodos: De los pacientes portadores de PEG se ha obtenido antes del procedimiento. La determinación del zinc del suero y total se ha obtenido por lo método Wavelength Dispersive X-ray Fluorescence Spectroscopy. Fueron consideradas la albumina y la transferrina. Se estudiaron pacientes como un todo y se dividieron en: cáncer de cabeza y cuello (CCC) y enfermedad neurológica (EN). Resultados: 32 pacientes (22 hombres), 43-88 años: CCC = 15, EN = 17. La mayoría (30/32) presento lo zinc en suero bajo. Solo dos, con lesión cerebral traumática, tenían valores normales de zinc. En la sangre total, 17/32 estaban dentro del rango normal. Sin diferencias entre los grupos CCC-EN. Sin asociación entre lo zinc sérico y la albumina o transferrina. Sin asociación entre lo zinc en suero y total. Conclusiones: los enfermos presentaran zinc sérico bajo no momento de la PEG, relacionado con el ayuno prolongado y no con la enfermedad subyacente. La reducción del zinc sérico no está relacionada con las proteínas. Lo zinc sérico fue más sensible para la identificación de reducción de la ingesta. Los grupos que se ocupan de enfermos con PEG deben incluir la determinación del zinc en la evaluación o incluir el suministro de zinc.

Alternative biomarkers of n-hexane exposure: characterization of aminoderived pyrroles and thiol-pyrrole conjugates in urine of rats exposed to 2,5-hexanedione.

The identification of pyrrole derivatives in urine of rats exposed to 2,5-hexanedione (2,5-HD), was performed to select an adequate peripheral biomarker predictive of 2,5-HD neurotoxicity. Studies on molecular mechanism of 2,5-HD neurotoxicity have revealed that 2,5-hexanedione reacts with free amino groups of lysine in proteins forming primary pyrrole adducts, which may autoxidize and form pyrrole dimers, responsible for protein crosslinking in neurofilaments, or react with sulfhydryl groups of cysteine in peptides and proteins, forming secondary pyrrole adducts, which probably may inhibit the process responsible by 2,5-HD neurotoxicity. In this work, the analysis of excreted 2,5-HD and pyr-role derivatives in urine of rats i.p. treated with 3 doses of 2,5-HD (400 mg/kg bw/48 h) was performed using ESI-LC-MS/MS. Several pyrrole compounds were identified, namely dimethylpyrrole norleucine(DMPN), cysteine-pyrrole conjugate (DMPN NAC), glutathione-pyrrole conjugate (DMPN GSH) and 2,5-dimethylpyrrole (2,5-DMP). Additionally, free and total 2,5-HD, DMPN and DMPN NAC were quantified. The observed results suggest that DMPN is a sensitive and specific indicator of repeated exposure to 2,5-HD.