Amino acids, glucose metabolism and clinical relevance for phenylketonuria management

It is general knowledge that glycaemia is affected by digested nutrients.Amino acids intake appears to be an important regulator in this regard. Many questions need to be answered, such as the real mediators of this responseand the mechanisms underlying this metabolic behavior. Studies have been undertaken in order to investigate the role of amino acids on metabolic parameters. Their main fndings suggest that the ingestion of free aminoacids have a pivotal role in avoiding glycaemia excursions, improving glucosetolerance. In parallel, several important molecules for glucose metabolism have been exploited. Insulin and glucagon-like peptide - 1 (GLP-1) release seemto be the main triggers of this response. This insulinogenic effect is attributed to some amino acids, particularly the branched-chain amino acids (leucine, isoleucine and valine). GLP-1 may exert its effects by activating its receptor inpancreas and enhancing insulin release by β-cells or through its extrapancreaticactions. The mechanisms that may justify the aforementioned effects remainto be answered, being the mTOR pathway activation a possible key. Thesemetabolic effects may have a special interest within the nutritional management of Phenylketonuria (PKU), an inborn metabolic disease of phenylalanine (Phe) catabolism. Since a Phe restricted diet is the mainstay of PKU treatment, a chronic supplementation with a Phe-free amino acid mixture is used. Although scientifc evidence is scarce, it is hypothesized whether this chronic ingestion may modulate glycaemia

Complex sacral fracture

We reported a case of a patient with suspected cauda equina syndrome secondary to sacral fracture, after sustaining a fall. The difficulty in early diagnosis of complex sacral fractures and the lack of clearly defined guidelines for treatment are highlighted. Thorough clinical examination is mandatory, in order to make an adequate initial assessment and follow symptoms progression and response to treatment. The threshold for performing CT imaging (or MRI, if advised), when suspecting sacral fracture and neurological compromise, should be low. A multidisciplinary approach, with contributions from orthopaedic and/or neurosurgical surgery and physiatry, should be the gold standard of treatment. In this particular case, conservative management and close follow-up led to a significant improvement of problems and a good final outcome, showing that surgical decompression is not the only valid option and that further prospective studies are needed, regarding patient selection and timing of intervention

The influence of physical exercise on oestrogen and androgen receptor expression in a chemically and hormonally-induced rat model of prostate cancer

Background: Oestrogen (ER) and androgen (AR) recep- tors play an important role in normal prostate development and are also implied in prostate cancer (PCa) development. Several studies suggested that physical activity may decrease the risk of PCa development and also changes sexual hor- mones and their receptors. This study aimed to evaluate the effects of physical exercise on ERα and AR expression in a rat model of chemically and hormonally-induced PCa. Materials and Methods: Fifty-five male Wistar Unilever rats of 12 weeks of age were randomly divided into four groups: control sedentary (n = 10), control exercised (n = 10), induced sedentary (n = 15) and induced exercised (n = 20). Animals from exercised groups started the exercise training in a treadmill (Treadmill Control LE 8710, Harvard Apparatus, USA), at the age of 8 weeks, for 35 weeks (5 days/week). The protocol for PCa induction started at 12 weeks of age and consisted of sequential administration of flutamide (50 mg/kg, TCI Chemicals), testosterone propion- ate (100 mg/kg, TCI Chemicals) and N-methyl-N-nitrosourea (30 mg/kg, Isopac®, Sigma Chemical Co.), followed by sub- cutaneous implants of crystalline testosterone. Animals were sacrificed at 61 weeks of age and a complete necropsy was performed. All experiments were approved by DGAV (no. 021326). Antibodies for Erα (1:500, clone 6F11, Novocastra) and AR (clone PG21, Merck Millipore) were used for the immunohistochemical study. The staining extension was evaluated in normal prostate tissue and in dorsolateral pros- tate lesions (hyperplasia, dysplasia, prostatic intraepithelial neoplasia (PIN) and microinvasive carcinoma) and assessed to five levels (0%, 75%), con- sidering the extension of immunopositive tissue. Data was analysed with SPSS 25.Results: The normal prostate tissue and dorsolateral prostate lesions of animals from all groups were immunopositive for Erα and AR. However, the groups showed high immunoposi- tivity for AR and low positivity for Erα ( 0.05). The malignant lesions (PIN and microinvasive carcinoma) showed lower AR expression when compared with normal prostate tissue in all groups. Conclusions: As expected, the AR expression was lower in malignant lesions. Inversely to that reported in other studies, the exercise training did not modify the ERα and AR expres- sion, which may be related to the duration and type of exer- cise performed

Terapêutica Endoscópica do Volvo Sigmoideu numa População Debilitada. Qual a Relevância?

Background: Colonic volvulus, mainly from the sigmoid, is a relatively common cause of intestinal obstruction, particularly in the elderly and in patients with debilitating conditions. The high morbi-mortality of emergency surgery places the endoscopic approach as the first-line treatment for the resolution of this acute obstructive condition. Objectives: To assess the importance of endoscopic treatment for the resolution of colonic volvulus in a debilitated population. Method: This is a retrospective analysis of emergency lower gastrointestinal endoscopies in patients with colonic volvulus as diagnosis, performed over a 9-year period (2009-2018), as well as population characterization and follow-up after the first exam. Results: We performed 88 procedures in 52 patients (56.4% males, median age 83 years, range 33-94). Endoscopic resolution was effective in 86.4% (76/88) of the exams, without procedure complications. Eighty-one percent of patients presented with volvulus recurrence, 50% of which occurred during the 3 months after the initial procedure. Twenty-one were submitted to surgery, 12 of which were emergency procedures after endoscopic failure as the primary treatment (5 of which had mucosal necrosis at endoscopy). There was no mortality in elective surgery. In the emergency plus necrosis group, mortality was 60% (3/5) and 14.3% (1/7) in the emergency without necrosis group. Conclusions: Despite the high recurrence of volvulus after endoscopic treatment, it seems to be an adequate and low-risk first-line therapy for sigmoid volvulus in debilitated patients, allowing improvement of surgical conditions.info:eu-repo/semantics/publishedVersio

Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should be aware of. We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome

Anatomia e Fisiologia: evoluindo de “mãos dadas"

A Anatomia e a Fisiologia encontram-se intimamente ligadas e são unidades curriculares fundamentais em inúmeros cursos ligados às ciências da vida. Documentos ancestrais comprovam que a história da Anatomia e da Fisiologia teve início na Grécia e encontra-se associada a Hipócrates (460-370 a.C.), conhecido como o Pai da Medicina, e à sua obra “Corpus Hippocraticus”. O médico grego Claudius Galeno (129-200 d.C.) desenvolveu trabalhos nas áreas da Anatomia e da Fisiologia. Dos resultados das suas experiências em animais surge o conceito de fisiologia experimental. Galeno é considerado o “pai” da fisiologia experimental e a sua obra “Sobre o uso das partes do corpo humano” regeu a Medicina por catorze séculos, após os quais algumas das suas teorias foram contestadas. Os artistas renascentistas, como Leonardo da Vinci e Michelangelo, estudavam os corpos para obter perfeição nas formas artísticas, contribuindo para o desenvolvimento da Anatomia. Em plena época do Renascimento, surgiu pela primeira vez o significado da palavra Fisiologia de acordo com a definição de Jean Fernel (1497-1558). Este ficou conhecido pela célebre frase: “A Anatomia está para a Fisiologia como a Geografia está para a História: ambas descrevem o teatro de operações”. Jean Fernel é o marco entre a medicina medieval e a medicina da idade moderna. Vesalius (1514-1564) corrigiu erros de outros anatomistas e escreveu a obra “De humani corporis fabrica” que contribuiu para o reconhecimento da Anatomia como ciência básica. Já no século XVII, uma das maiores contribuições para a Fisiologia data de 1628, ano da publicação da obra “Exercitatio Anatomica de Motu Cordis et Sanguinis in Animalibus”, de William Harvey (1578-1657), onde pela primeira vez se descreveu a anatomia e o movimento do coração e a consequente circulação do sangue pelo corpo. O “De Motu Cordis” foi o primeiro tratado da época moderna dedicado a um tema estritamente fisiológico. Em 1876 foi fundada, em Londres, a Sociedade de Fisiologia e em 1887 nos Estados Unidos da América foi fundada a Sociedade de Fisiologia Americana. Ambas se dedicavam à investigação científica, educação e disseminação de conceitos relacionados com a fisiologia. O primeiro Congresso internacional de Anatomia decorreu em 1895, em Basileia

Chemical weathering outputs from the flood plain of the Ganga

Transport of sediment across riverine flood plains contributes a significant but poorly constrained fraction of the total chemical weathering fluxes from rapidly eroding mountain belts which has impor- tant implications for chemical fluxes to the oceans and the impact of orogens on long term climate. We report water and bedload chemical analyses from the Ganges flood-plain, a major transit reservoir of sediment from the Himalayan orogen. Our data comprise six major southern tributaries to the Ganga, 31 additional analyses of major rivers from the Himalayan front in Nepal, 79 samples of the Ganga collected close to the mouth below the Farakka barrage every two weeks over three years and 67 water and 8 bedload samples from tributaries confined to the Ganga flood plain,. The flood plain tributaries are characterised by a shallow d 18 O - dD array, compared to the meteoric water line, with a low dD excess from evaporative loss from the flood plain which is mirrored in the higher dD excess of the mountain rivers in Nepal. The stable-isotope data confirms that the waters in the flood plain tributaries are domi- nantly derived from flood plain rainfall and not by redistribution of waters from the mountains. The flood plain tributaries are chemically distinct from the major Himalayan rivers. They can be divided into two groups. Tributaries from a small area around the Kosi river have 87 Sr/ 86 Sr ratios > 0.75 and molar Na/Ca ratios as high as 6. Tributaries from the rest of the flood plain have 87 Sr/ 86 Sr ratios <0.74 and most have Na/Ca ratios <1. One sample of the Gomti river and seven small adjacent tributaries have elevated Na concentrations likely caused by dissolution of Na carbonate salts. The compositions of the carbonate and silicate components of the sediments were determined from sequential leaches of floodplain bedloads and these were used to partition the dissolved cation load between silicate and car- bonate sources. The 87 Sr/ 86 Sr and Sr/Ca ratios of the carbonate inputs were derived from the ace- tic-acid leach compositions and silicate Na/Ca and 87 Sr/ 86 Sr ratios derived from silicate residues from leaching. Modelling based on the 87 Sr/ 86 Sr and Sr/Ca ratios of the carbonate inputs and 87 Sr/ 86 Sr ratios of the silicates indicates that the flood plain waters have lost up to 70% of their Ca (average ~ 50%) to precipitation of secondary calcite which is abundant as a diagenetic cement in the flood plain sedi- ments. 31% of the Sr, 8% of the Ca and 45% of the Mg are calculated to be derived from silicate miner- als. Because of significant evaporative loss of water across the flood plain, and in the absence of hy- drological data for flood plain tributaries, chemical weathering fluxes from the flood plain are best calculated by mass balance of the Na, K, Ca, Mg, Sr, SO 4 and 87 Sr/ 86 Sr compositions of the inputs, comprising the flood plain tributaries, Himalayan rivers and southern rivers, with the chemical dis- charge in the Ganga at Farakka. The calculated fluxes from the flood plain for Na, K, Ca and Mg are within error of those estimated from changes in sediment chemistry across the flood plain (Lupker et al., 2012, Geochemica Cosmochimica Acta). Flood plain weathering supplies between 33 and 48% of the major cation and Sr fluxes and 58% of the alkalinity flux carried by the Ganga at Farakka which compares with 24% supplied by Himalayan rivers and 18% by the southern tributaries

Inequalities in access to cardiac rehabilitation after an acute coronary syndrome: the EPiHeart cohort

Objectives To estimate cardiac rehabilitation (CR) referral and participation rates among patients with acute coronary syndrome (ACS) and to identify their determinants, in two Portuguese regions. Design Prospective cohort study. Setting Patients consecutively admitted to the cardiology department of two hospitals, one in the district of Porto and one in the north-east region (NER) of Portugal, were enrolled in the EPIHeart cohort and then followed up for 6 months. Participants Between August 2013 and December 2014, 939 patients were included in the cohort, and 853 were re-evaluated at 6-month follow-up. Outcome measures Referral rate was defined as the proportion of eligible patients who were referred to a CR programme, whereas participation rate was defined as the proportion of eligible patients who completed a CR programme, as was recommended by their physicians. Results Patients referred were 32.3% and 10.7% of those eligible in Porto and NER, respectively. In both regions, referral to CR decreased with age and with longer travel times to CR centres and increased with education or social class. At follow-up, 128 patients from Porto (26.2% of those eligible and 81.0% of those referred) and 26 from NER (7.1% of those eligible and 66.7% of those referred) reported actually participating in a CR programme. In Porto, the main barriers to participation were the long time until a programme was available and lack of perceived benefit. Patients in NER identified distance to CR and costs as the main barriers. Conclusions CR remains clearly underused in Portugal, with major inequalities in access between regions. Achieving equitable and greater use of CR requires a multilevel approach addressing barriers related to healthcare system, providers and patients in order to improve provision, referral and participation.This study was supported by FEDER through the Operational Programme Competitiveness and Internationalisation and national funding from the Foundation for Science and Technology—FCT (Portuguese Ministry of Science, Technology and Higher Education) (FCOMP-01-0124-FEDER-028709), under the project ‘Inequalities in coronary heart disease management and outcomes in Portugal’ (FCT PTDC/DTP-EPI/0434/2012) and the Unidade de Investigação em Epidemiologia—Instituto de Saúde Pública da Universidade do Porto (EPIUnit) (POCI-01-0145-FEDER-006862; ref UID/DTP/04750/2013)

Response Regarding: Endoscopic Management of Sigmoid Volvulus in a Debilitated Population: What Relevance?

info:eu-repo/semantics/publishedVersio