Prenatally Diagnosed Uropathies: Ten Years of Follow-Up

Introdução: As anomalias do tracto urinário são detectadas com uma frequência cada vez maior devido à sistematização da vigilância ecográfica durante a gravidez aliada à sofisticação técnica e à experiência dos ecografistas. Objectivo: Analisar os principais diagnósticos pós-natais investigados na sequência do estudo evolutivo prolongado das uropatias fetais seguidas no ambulatório da nefrologia pediátrica do Hospital de Dona Estefânia. Doentes e Métodos: Estudo retrospectivo dos 392 casos de uropatia fetal observados num período de dez anos e submetidos ao protocolo de investigação em uso na unidade. Resultados: O estudo inclui 362 casos; excluímos 30 processos que não completaram a investigação. A relação sexo masculino: feminino foi de 2: 1. O diagnóstico pré-natal foi realizado em média às 28.9 semanas e a idade média de admissão foi de 68 dias. No estudo evolutivo pós-natal verificou-se a formulação de um diagnóstico definitivo em 349 (96.4%) das crianças. Em 109 crianças (30%) a anomalia fetal foi transitória. Em 75 (20.7%) a dilatação era funcional. Confirmou-se a existência de uropatia em 165/362 crianças: refluxo vesico-ureteral 70/165 (42.4%), displasia multiquística 21%, síndroma da junção pielo-ureteral 16.4%, entre os principais. Nenhum caso evoluiu para insuficiência renal e há a registar, apenas, um caso de hipertensão arterial por poliquistose renal. Conclusão: A planificação da investigação pós-natal reveste-se ainda de alguma controvérsia e continua a evoluir principalmente no grupo das anomalias unilaterais e assintomáticas

Understanding the formation of deep eutectic solvents: betaine as a universal hydrogen bond acceptor

© 2020 Wiley-VCH GmbH The mechanism of formation of betaine-based deep eutectic solvents (DES) is presented for the first time. Due to its polarity unbalance, it was found that betaine displays strong negative deviations from ideality when mixed with a variety of different organic substances. These results pave the way for a comprehensive design of novel deep eutectic solvents. A connection to biologically relevant systems was made using betaine (osmolyte) and urea (protein denaturant), showing that these two compounds formed a DES, the molecular interactions of which were greatly enhanced in the presence of water.This work was developed within the scope of the projects CICECO-Aveiro Institute of Materials, UIDB/50011/2020 & UIDP/50011/2020, financed by national funds through the Portuguese Foundation for Science and Technology/MCTES, and CIMO-Mountain Research Center, UIDB/00690/2020, financed by national funds through the FCT/MEC and when appropriate cofinanced by FEDER under the PT2020 Partnership Agreement.info:eu-repo/semantics/publishedVersio

O Problema de Sócrates em Leo Strauss: Filosofia e Poesia

Sócrates (469-399 a. C.) é ainda hoje um mistério. Por um lado é um daqueles poucos filósofos de que se diz que mudou para sempre o panorama da filosofia. Por outro lado, como nunca escreveu nada, tudo o que sabemos dele chega-nos em segunda mão e todas as descrições da sua vida e pensamento são intensamente polémicas. A versão de Sócrates mais conhecida é a da Apologia de Platão, sobre o seu julgamento e condenação na democrática Atenas, por corromper a juventude e por irreverência para com os deuses da cidade. Mas como lembra Leo Strauss, qualquer estudante do secundário sabe que o Sócrates dos diálogos é o porta voz das ideias de Platão. E acrescenta, com o seu habitual humor, nós não desejamos saber menos que qualquer estudante do secundário. E, se muito se discute sobre o que Sócrates realmente disse, todos o consideram admirável não só como pensador, mas como um modelo da vida filosófica. Tão difícil é distinguir o Sócrates histórico do Sócrates dos seus intérpretes, que o conjunto dessas disputas é o que costuma designar-se como "o problema de Sócrates", expressão cunhada inicialmente por Nietzsche com outro sentido, pois acusava Sócrates do declínio do Ocidente.info:eu-repo/semantics/publishedVersio

Hypophosphatemic Rickets: A New Mutation

Introduction: Phosphopenic rickets is characterized by hypophosphatemia with hyperphosphaturia, normal calcemia and normal or mildly elevated PTH. This pathology may be caused by mutations in PHEX gene (phosphate regulating endopeptidase homolog X-linked). We present a clinical report of a girl with phosphopenic rickets, as consequence of a new mutation of PHEX gene. Clinical Case: We present a 4-year-old female, with unremarkable family history, who presented with failure to thrive since the first year of life (height at the 5th centile, and with the age of four below 5th centile). Blood tests showed hypophosphatemia (2.4 mg/dL), elevated alkaline phosphatase (495 U/L), normal calcemia, mildly elevated PTH (97.2 pg/mL; RR <68.3) and normal levels of 25(OH)D and 1.25(OH)D vitamins. The radiological study showed bone deformity of the radius and femur. Diagnosis of hypophosphatemic rickets was made and she was medicated with phosphorus and calcitriol. Currently, the patient has no clinical or radiographic signs of rickets, osseous age is according to real age and there was a considerable increase in growth rate (between 25th and 50th centiles). Renal ultrasound shows incipient signs of nephrocalcinosis since she was 9-year-old. The genetic study detected a heterozigous mutation of the PHEX gene: variant c.767_768del (p.Thr256Serfs*7). This variant is not described in the literature or databases. However, since it introduces a premature stop codon that can produce a truncated protein, this is very likely a pathogenic variant. The parent’s genetic study is still in progress. Conclusions: Presently more than 200 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. We describe a new mutation of this gene. Knowledge about new mutations can improve patient’s outcome.info:eu-repo/semantics/publishedVersio

Greener terpene-terpene eutectic mixtures as hydrophobic solvents

Natural products can be the basis for the development of green solvents, relevant for the advancement of new, more sustainable processes and products. In this work, 10 binary mixtures constituted by terpenes are prepared and characterized. Their solid−liquid phase diagrams show that room-temperature solvents can be prepared from solid terpenes in a wide composition range. These diagrams are accurately described by the conductor-like screening model for real solvents, showing it to be a useful predictive tool for the design of novel natural solvents. At the eutectic point, these mixtures possess low viscosities, densities lower than water, and high boiling temperatures. The low water solubility in the eutectic solvents together with its negligible impact on the properties measured is a strong indicator of the hydrophobic character of these mixtures. The tunable character of these mixtures is demonstrated by studying the solvatochromic parameters in the entire concentration region, the properties of the final solvents being tuned by simply varying the mole fraction of the terpenes. The high potential of this tunable character is shown in the selective extraction of dyes from their aqueous solutions. This work is expected to devise new insights concerning these solvents as well as to boost their application in green industrial processes.This work was developed in the scope of the project CICECO-Aveiro Institute of Materials POCI-01-0145-FEDER-007679 (UID/CTM/50011/2019) and Associate Laboratory LSRE-LCM (UID/EQU/50020/2019), funded by national funds through FCT/MCTES (PIDDAC). FCT is also acknowledged for funding the project DeepBiorefinery (PTDC/AGRTEC/1191/2014). M.A.R.M. acknowledges the financial support from NORTE-01-0145-FEDER-000006 funded by NORTE2020 through PT2020 and ERDF. L.P.S. acknowledges FCT for her Ph.D. grant SFRH/BD/135976/ 2018. G.J.M. acknowledges the national funding agencies CNPq (305870/2014-9, 309780/2014-4, 140702/2017-2, 406918/2016-3, 406963/2016-9), FAPESP (2014/21252-0, 2016/08566-1), and FAEPEX/UNICAMP (0125/16).info:eu-repo/semantics/publishedVersio

Nephrolithiasis in a Portuguese Pediatric Population

Introduction and Aims: Nephrolithiasis incidence in children has increased considerably. It is associated with substantial morbidity, recurrence and increased adulthood cardiovascular risk and chronic kidney disease. A thorough investigation is essential, as rare forms of urolithiasis have increased risk of renal failure. We aim to determine the epidemiology and outcomes of a pediatric population with nephrolithiasis presented in a nephrology unit of a tertiary centre. Methods: Retrospective study of the records of all children (<18 years) with nephrolithiasis diagnosis between 2008‑17. Clinical features, etiology, recurrence, treatment, and outcomes were evaluated and compared throughout the study period through two equal periods (2008‑12 versus 2013‑17). Results: We identified 80 cases: isolated nephrolithiasis (86%) and associated with nephrocalcinosis (14%). Mean follow‑up was 36 months (14–120). Median age at presentation was 8.6 years [3 months – 17 years]: 21% < 2 years‑old and 46% ≥ 10 years. The annual ratio of referrals for nephrolithiasis increased on average 1.2% per year [0.3‑11.8%]. Multiple etiological factors were present in 34%. A metabolic abnormality was identified in 54%: hypocitraturia (34%), hypercalcuria (24%), hyperoxaluria (15%), hyperuricosuria (15%) and cystinuria (1%), without age predominance (p=0.2). Urinary tract infection (24%) was the next most significant etiology and was more frequent below 2 years of age (p=0.001) and associated with struvite calculi (p=0.033). Median age at diagnosis was significantly lower in the study’s first half (5 vs 10 years; p=0.019) and an infectious etiology was more frequent (p=0.043). In a logistic‑regression analysis, a family history of nephrolithiasis was associated with a metabolic cause (p<0.01). Sixty‑three percent became stone free and 24% had recurrence. Discussion: Nephrolithiasis new referrals gradually increased throughout the study period. The most common etiology was metabolic, which is usually responsible for nephrolithiasis appearance and its recurrence, emphasizing the need for a complete evaluation.info:eu-repo/semantics/publishedVersio

Neoplasia Maligna da Próstata e Fertilidade: Revisão das Implicações das Diferentes Opções Terapêuticas

Introduction: Prostate cancer is the second most common neoplasm in men, and its incidence is higher in the group aged 50-69 years. It is estimated that about 5% of cases are diagnosed in men under the age of 50. Given the current demographic developments, the desire for paternity is often postponed. Thus, it is relevant that the urologist can explain the different repercussions that the existing therapies for malignant prostate cancer have on male fertility. The purpose of this systematic review is to compare the repercussions that the diverse therapeutic options used in prostate cancer have on male fertility. Methods: a qualitative review of the scientific literature published between 1987-2019, according to the ENTREG guidelines and PRISMA methodology, through PubMed database. All articles written in English and covering the topics described were consi- dered, including randomized controlled studies, meta-analyses and systematic reviews. All the abstracts of the publications were read by two authors, with the consequent selection of those that met the defined criteria, after evaluating its quality using the CASP qualitative checklist. In case of divergent opinions, a third urologist was consulted to decide on inclusion. Results: According to the defined criteria, 436 references were identified and 10 publications were included as they refer directly to the defined objective. Despite the few published studies, there is evidence that active surveillance alone has no implications for fertility. Although there are no comparative studies, according to the currently available data, focal therapy and brachytherapy seem to be the therapeutic options with the least likelihood of permanent impairment of the capacity for natural fertilization as opposed to radical prostatectomy, radiotherapy, hormonotherapy and chemotherapy. Conclusion: Nowadays, with increased survival after prostate cancer treatment, it is relevant to evaluate the repercussions on fertility of the existing therapeutic options for prostate cancer, so that patients can make an informed decision and, if necessary, resort to gametes preservation measures prior to therapeutic intervention. Although there are no comparative studies, focal therapy and brachytherapy appear to have less effect on male fertility. Active surveillance is currently the only option with no consequences on fertility.Introdução: A neoplasia maligna da próstata é a segunda neoplasia mais comum nos homens, e a sua incidência é mais elevada no grupo com 50-69 anos de idade. Estima-se que cerca de 5% dos casos sejam diagnosticados em homens com idade inferior a 50 anos. Dada a evolução demográfica actual, o desejo de paternidade é frequentemente adiado. Assim, é relevante que o urologista possa explicar as diferentes repercussões que as terapêuticas existentes para a neoplasia maligna da próstata têm na fertilidade masculina. O objectivo desta revisão é comparar o impacto que as diferentes opções terapêuticas existentes na neoplasia maligna da próstata têm na fertilidade masculina. Métodos: Realização de revisão qualitativa da literatura publicada entre 1987-2019, de acordo com as orientações ENTREG e metodologia PRISMA, utilizando a base de dados PubMed. Foram considerados elegíveis todos os artigos sobre este tema escritos em inglês, incluindo estudos randomizados controlados, meta-análises e revisões sistemáticas. Todos os resumos foram lidos por dois autores com subsequente selecção daqueles que cumprissem os critérios definidos, após avaliação de qualidade utilizando a checklist qualitativa CASP. Em caso de discordância, um terceiro urologista foi consultado. Resultados: De acordo com os critérios definidos, foram identificadas 436 referências e 10 publicações foram incluídas por se referirem directamente ao objectivo definido. Apesar da escassez de literatura publicada, é possível concluir que a vigilância activa não tem implicações na fertilidade. De acordo com os dados disponíveis, a terapêutica focal e a braquiterapia são as opções terapêuticas com menor probabilidade de provocar incapacidade permanente na fertilização por métodos naturais, em oposição a prostatectomia radical, radioterapia, hormonoterapia e quimioterapia. Conclusão: Actualmente, com o aumento da sobrevivência após tratamento de cancro da próstata, é necessário avaliar as repercussões que as diferentes opções terapêuticas têm na fertilidade, de forma que os doentes possam fazer uma decisão informada e, se necessário, recorrer a estratégias de preservação de gâmetas. Apesar de não existirem estudos comparativos, a terapêutica focal e a braquiterapia parecem ter menor efeito deletério na fertilidade masculina. A vigilância activa é actualmente a única opção sem consequências na fertilidade