المؤلفون: Vilhais, G, Alpuim Costa, D, Fontes-Sousa, M, Ribeiro, PC, Martinho, F, Botelho de Sousa, C, Santos, CR, Negreiros, I, Canastra, A, Borralho, P, Guia Pereira, A, Marçal, C, Germano Sousa, J, Chaleira, R, Rocha, JC, Calhau, C, Faria, A

مصطلحات موضوعية: Neoplasias da Mama, Quinase 4 Dependente de Ciclina, Microbiota, Breast Neoplasms, Cyclin-Dependent Kinase 4

الوصف: Locally advanced breast cancer poses significant challenges to the multidisciplinary team, in particular with hormone receptor (HR) positive, HER2- negative tumors that classically yield lower pathological complete responses with chemotherapy. The increasingly significant use of CDK 4/6 inhibitors (CDK4/6i) plus endocrine therapy (ET) in different breast cancer settings has led to clinical trials focusing on this strategy as a primary treatment, with promising results. The impact of the microbiota on cancer, and vice-versa, is an emerging topic in oncology. The authors report a clinical case of a postmenopausal female patient with an invasive breast carcinoma of the right breast, Luminal B-like, staged as cT4cN3M0 (IIIB). Since the lesion was considered primarily inoperable, the patient started letrozole and ribociclib. Following 6 months of systemic therapy, the clinical response was significant, and surgery with curative intent was performed. The final staging was ypT3ypN2aM0, R1, and the patient started adjuvant letrozole and radiotherapy. This case provides important insights on primary CDK4/6i plus ET in locally advanced unresectable HR+/HER2- breast cancer and its potential implications in disease management further ahead. The patient’s gut microbiota was analyzed throughout the disease course and therapeutic approach, evidencing a shift in gut microbial dominance from Firmicutes to Bacteroidetes and a loss of microbial diversity following 6 months of systemic therapy. The analysis of the intratumoral microbiota from the surgical specimen revealed high microbial dissimilarity between the residual tumor and respective margins. ; info:eu-repo/semantics/publishedVersion

العلاقة: Front. Oncol. 14:1360737.; http://hdl.handle.net/10400.26/50527Test

الإتاحة: https://doi.org/10.3389/fonc.2024.1360737Test
http://hdl.handle.net/10400.26/50527Test

المؤلفون: Luengo-Pérez, LM, Fernández-Bueso, M, Ambrojo, A, Guijarro, M, Ferreira, AC, Pereira-da-Silva, L, Moreira-Rosário, A, Faria, A, Calhau, C, Daly, A, MacDonald, A, Rocha, JC

مصطلحات موضوعية: Anthropometry, Biomarkers, Body Composition, Body Mass Index, Cardiovascular Diseases* / etiology, Humans, Phenylketonurias* / complications, HDE MTB

الوصف: Cardiovascular diseases are the main cause of mortality worldwide. Patients with phenylketonuria (PKU) may be at increased cardiovascular risk. This review provides an overview of clinical and metabolic cardiovascular risk factors, explores the connections between body composition (including fat mass and ectopic fat) and cardiovascular risk, and examines various methods for evaluating body composition. It particularly focuses on nutritional ultrasound, given its emerging availability and practical utility in clinical settings. Possible causes of increased cardiometabolic risk in PKU are also explored, including an increased intake of carbohydrates, chronic exposure to amino acids, and characteristics of microbiota. It is important to evaluate cardiovascular risk factors and body composition in patients with PKU. We suggest systematic monitoring of body composition to develop nutritional management and hydration strategies to optimize performance within the limits of nutritional therapy. ; info:eu-repo/semantics/publishedVersion

العلاقة: Nutrients . 2023 Dec 18;15(24):5133; http://hdl.handle.net/10400.17/4791Test

الإتاحة: https://doi.org/10.3390/nu15245133Test
http://hdl.handle.net/10400.17/4791Test

المؤلفون: Bernstein L, Hansen J, Kogelmann C, Ellerbrok M, Gizewska M, Gaughan S, Rocha JC, Belanger A, Rohr F

المصدر: Nutrition and Dietary Supplements, Vol Volume 13, Pp 145-154 (2021)

مصطلحات موضوعية: pku, phenylketonuria, pegvaliase, medical nutrition therapy, Nutrition. Foods and food supply, TX341-641, Nutritional diseases. Deficiency diseases, RC620-627

الوصف: Laurie Bernstein,1,2 Joyanna Hansen,3 Christian Kogelmann,4 Margret Ellerbrok,4 Maria Gizewska,5 Sommer Gaughan,6 Julio Cesar Rocha,7– 9 Amaya Belanger,10 Fran Rohr2 1Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA; 2Met Ed Co, Boulder, CO, USA; 3Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, USA; 4University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 5Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland; 6Inherited Metabolic Diseases Clinic, Children’s Hospital Colorado, Aurora, CO, USA; 7Nutrition and Metabolism, NOVA Medical School | Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Lisboa, 1169-056, Portugal; 8CINTESIS - Center for Health Technology and Services Research, Porto, Portugal; 9Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisboa, 1169-045, Portugal; 10Hospital Universitario Ramon y Cajal, Madrid, SpainCorrespondence: Fran Rohr Email fran.rohr@met-ed.netAbstract: Phenylketonuria (PKU) is one of the most common inherited metabolic disorders, and historically has required affected individuals to follow a severely protein-restricted diet with medical food for life. A novel enzyme substitution therapy, pegvaliase, allows many adults with PKU on therapy to have a reduction in blood phenylalanine (Phe) while on an unrestricted diet. However, there is limited information on optimal nutrition management of individuals with PKU on pegvaliase therapy. This manuscript summarizes a virtual European meeting focused on nutrition management of individuals on pegvaliase therapy, including three case studies and a patient perspective that together provide clinical insights into the real-world management of individuals with PKU on pegvaliase.Keywords: PKU, phenylketonuria, pegvaliase, medical nutrition therapy

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/normalizing-diet-in-individuals-with-phenylketonuria-treated-with-pegv-peer-reviewed-fulltext-article-NDSTest; https://doaj.org/toc/1179-1489Test

الوصول الحر: https://doaj.org/article/4f3c913f902d439ebbe6af5a03bcabeeTest

المؤلفون: Pinto, A, Daly, A, Rocha, JC, Ashmore, C, Evans, S, Ilgaz, F, Hickson, M, MacDonald, A

مصطلحات موضوعية: phenylketonuria, fruits, vegetables, metabolic control, phenylalanine

الوصف: In phenylketonuria (PKU), an important component of the UK dietary management system is a 50 mg phenylalanine (Phe)/1 g protein exchange system used to allocate the Phe/natural protein intakes according to individual patient tolerance. Any foods containing protein ≤ 0.5 g/100 g or fruits/vegetables containing Phe ≤ 75 mg/100 g are allowed without measurement or limit. In children with PKU, we aimed to assess the difference between the prescribed natural protein intake and their actual consumed intake, and to calculate the natural protein/Phe intake from foods given without measurement or restriction. Over a 6-month duration, three one-day diet diaries were collected every month by caregivers of children with PKU at the beginning of a follow-up study. Dietary intakes of Phe, as well as natural and total protein intakes, were calculated using Nutritics® (v5.09). Weekly blood Phe spots were collected by caregivers. The target blood Phe level was ≤360 μmol/L for ages up to 12 years and ≤600 μmol/L for ages ≥12 years. Sixteen early treated children (69% females) with PKU were recruited. The median age was 11 years (range: 9–13), and most had classical PKU (n = 14/16). A median of 18 (range 12–18) one-day diaries and 22 blood spots were analysed for each subject over 6 months. The median prescribed natural protein was 6 g/day (range: 3–27), but when calculated, the actual median intake from all foods consumed was 10 g/day (range: 4–37). The median prescribed Phe was 300 mg/day (range: 150–1350), but the actual median intake was 500 mg/day (range: 200–1850). The median difference between the prescribed and actual natural protein daily intakes was +4 g/day (range: −2.5 to +11.5), with a median percentage increase of 40% for natural protein/Phe intake (p < 0.001). The median blood Phe level was 250 μmol/L (range 20–750), with 91% of blood Phe levels within the target range. Only one patient (11 years) had less than 75% of their blood Phe levels within the target range. The UK Phe exchange system provides flexibility ...

وصف الملف: 4903-4903; Electronic; application/octet-stream

العلاقة: E-ISSN:2072-6643; 4903; https://pearl.plymouth.ac.uk/handle/10026.1/21860Test

الإتاحة: https://doi.org/10.3390/nu15234903Test
https://pearl.plymouth.ac.uk/handle/10026.1/21860Test

المؤلفون: Pinto, A, Ahring, K, Almeida, MF, Bélanger-Quintana, A, Burlina, A, Daly, A, van Dam, E, Feillet, F, Giżewska, M, Gökmen-Özel, H, Hoekstra, Y, Ilgaz, F, Leśniak, A, Loro, C, Rocha, JC, Rodenburg, I, Spronsen, F van, MacDonald, A

المصدر: Molecular Genetics and Metabolism ; volume 141, page 108394 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108394Test
https://api.elsevier.com/content/article/PII:S1096719224003251?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224003251?httpAccept=text/plainTest

المؤلفون: Pinto, A, Daly, A, Rocha, JC, Ashmore, C, Evans, S, Jackson, R, Hickson, M, MacDonald, A

المصدر: Molecular Genetics and Metabolism ; volume 141, page 108393 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108393Test
https://api.elsevier.com/content/article/PII:S109671922400324X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109671922400324X?httpAccept=text/plainTest

المؤلفون: Obura, DO, DeClerck, F, Verburg, PH, Gupta, J, Abrams, JF, Bai, X, Bunn, S, Ebi, KL, Gifford, L, Gordon, C, Jacobson, L, Lenton, TM, Liverman, D, Mohamed, A, Prodani, K, Rocha, JC, Rockström, J, Sakschewski, B, Stewart-Koster, B, van Vuuren, D, Winkelmann, R, Zimm, C

الوصف: This is the final version. Available on open access from Cell Press via the DOI in this record ; Despite decades of increasing investment in conservation, we have not succeeded in “bending the curve” of biodiversity decline. Efforts to meet new targets and goals for the next three decades risk repeating this outcome due to three factors: neglect of increasing drivers of decline; unrealistic expectations and time frames of biodiversity recovery; and insufficient attention to justice within and between generations and across countries. Our Earth system justice approach identifies six sets of actions that when tackled simultaneously address these failings: (1) reduce and reverse direct and indirect drivers causing decline; (2) halt and reverse biodiversity loss; (3) restore and regenerate biodiversity to a safe state; (4) raise minimum wellbeing for all; (5) eliminate over-consumption and excesses associated with accumulation of capital; and (6) uphold and respect the rights and responsibilities of all communities, present and future. Current conservation campaigns primarily address actions 2 and 3, with urgent upscaling of actions 1, 4, 5, and 6 needed to help deliver the post-2020 global biodiversity framework.

العلاقة: One Earth; orcid:0000-0003-0411-8519 (Abrams, Jesse F); orcid:0000-0002-6725-7498 (Lenton, Timothy M); Published online 5 December 2022; https://doi.org/10.1016/j.oneear.2022.11.013Test; http://hdl.handle.net/10871/132345Test

الإتاحة: https://doi.org/10.1016/j.oneear.2022.11.013Test
http://hdl.handle.net/10871/132345Test

المؤلفون: Moreira-Rosário, A, Marques, C, Pinheiro, H, Araújo, JR, Ribeiro, P, Rocha, R, Mota, I, Pestana, D, Ribeiro, R, Pereira, A, Sousa, MJ, Pereira-Leal, J, Sousa, J, Morais, J, Teixeira, D, Rocha, JC, Silvestre, M, Príncipe, N, Gatta, N, Amado, J, Santos, L, Maltez, F, Boquinhas, A, Sousa, G, Germano, N, Sarmento, G, Granja, C, Póvoa, P, Faria, A, Calhau, C

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: COVID-19, Dysbiosis, Gut microbiota, Shannon—Weiner diversity index, WHO Clinical Progression Scale

الوصف: The risk factors for coronavirus disease 2019 (COVID-19) severity are still poorly understood. Considering the pivotal role of the gut microbiota on host immune and inflammatory functions, we investigated the association between changes in the gut microbiota composition and the clinical severity of COVID-19. We conducted a multicenter cross-sectional study prospectively enrolling 115 COVID-19 patients categorized according to: (1) the WHO Clinical Progression Scale—mild, 19 (16.5%); moderate, 37 (32.2%); or severe, 59 (51.3%), and (2) the location of recovery from COVID-19—ambulatory, 14 (household isolation, 12.2%); hospitalized in ward, 40 (34.8%); or hospitalized in the intensive care unit, 61 (53.0%). Gut microbiota analysis was performed through 16S rRNA gene sequencing, and the data obtained were further related to the clinical parameters of COVID-19 patients. The risk factors for COVID-19 severity were identified by univariate and multivariable logistic regression models. In comparison to mild COVID-19 patients, the gut microbiota of moderate and severe patients have: (a) lower Firmicutes/Bacteroidetes ratio; (b) higher abundance of Proteobacteria; and (c) lower abundance of beneficial butyrate-producing bacteria such as the genera Roseburia and Lachnospira. Multivariable regression analysis showed that the Shannon diversity index [odds ratio (OR) = 2.85, 95% CI = 1.09–7.41, p = 0.032) and C-reactive protein (OR = 3.45, 95% CI = 1.33–8.91, p = 0.011) are risk factors for severe COVID-19 (a score of 6 or higher in the WHO Clinical Progression Scale). In conclusion, our results demonstrated that hospitalized patients with moderate and severe COVID-19 have microbial signatures of gut dysbiosis; for the first time, the gut microbiota diversity is pointed out as a prognostic biomarker of COVID-19 severity. ; This study was sponsored by the Fundação para a Ciência e a Tecnologia (FCT, project no. 268_596883842), BIOCODEX, and CINTESIS (reference UIDB/4255/2020). The funders had no role in study design, data ...

وصف الملف: application/pdf

العلاقة: Frontiers in Microbiology, vol.12:705020; https://www.frontiersin.org/articles/10.3389/fmicb.2021.705020/fullTest; https://hdl.handle.net/10216/153746Test

الإتاحة: https://doi.org/10.3389/fmicb.2021.705020Test
https://hdl.handle.net/10216/153746Test

المؤلفون: Pena, MJ, Costa, R, Rodrigues, I, Martins, S, Guimaraes, JT, Faria, A, Calhau, C, Rocha, JC, Borges, Nuno

المساهمون: Faculdade de Ciências da Nutrição e Alimentação

مصطلحات موضوعية: Ciências da Saúde, Ciências médicas e da saúde, Health sciences, Medical and Health sciences

الوصف: For many years, the main nitrogen source for patients with phenylketonuria (PKU) was phenylalanine-free amino acid supplements. Recently, casein glycomacropeptide (GMP) supplements have been prescribed due to its functional and sensorial properties. Nevertheless, many doubts still persist about the metabolic effects of GMP compared to free amino acids (fAA) and intact proteins such as casein (CAS). We endeavour to compare, in rats, the metabolic effects of different nitrogen sources. Twenty-four male Wistar rats were fed equal energy density diets plus CAS (control, n = 8), fAA (n = 8) or GMP (n = 8) for 8 weeks. Food, liquid intake and body weight were measured weekly. Blood biochemical parameters and markers of glycidic metabolism were assessed. Glucagon-like peptide-1 (GLP-1) was analysed by ELISA and immunohistochemistry. Food intake was higher in rats fed CAS compared to fAA or GMP throughout the treatment period. Fluid intake was similar between rats fed fAA and GMP. Body weight was systematically lower in rats fed fAA and GMP compared to those fed CAS, and still, from week 4 onwards, there were differences between fAA and GMP. None of the treatments appeared to induce consistent changes in glycaemia, while insulin levels were significantly higher in GMP. Likewise, the production of GLP-1 was higher in rats fed GMP when compared to fAA. Decreased urea, total protein and triglycerides were seen both in fAA and GMP related to CAS. GMP also reduced albumin and triglycerides in comparison to CAS and fAA, respectively. The chronic consumption of the diets triggers different metabolic responses which may provide clues to further study potential underlying mechanisms.

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/10216/137573Test; P-00V-BDD

الإتاحة: https://doi.org/10.3390/ijms22189731Test
https://hdl.handle.net/10216/137573Test

المؤلفون: Rockström, J, Gupta, J, Lenton, TM, Qin, D, Lade, SJ, Abrams, JF, Jacobson, L, Rocha, JC, Zimm, C, Bai, X, Bala, G, Bringezu, S, Broadgate, W, Bunn, SE

مصطلحات موضوعية: Atmospheric sciences, Physical geography and environmental geoscience, Climate change science, Hydrology

الوصف: Keeping the Earth system in a stable and resilient state, to safeguard Earth's life support systems while ensuring that Earth's benefits, risks, and related responsibilities are equitably shared, constitutes the grand challenge for human development in the Anthropocene. Here, we describe a framework that the recently formed Earth Commission will use to define and quantify target ranges for a “safe and just corridor” that meets these goals. Although “safe” and “just” Earth system targets are interrelated, we see safe as primarily referring to a stable Earth system and just targets as being associated with meeting human needs and reducing exposure to risks. To align safe and just dimensions, we propose to address the equity dimensions of each safe target for Earth system regulating systems and processes. The more stringent of the safe or just target ranges then defines the corridor. Identifying levers of social transformation aimed at meeting the safe and just targets and challenges associated with translating the corridor to actors at multiple scales present scope for future work. ; Full Text

العلاقة: Earth's Future; Rockström, J; Gupta, J; Lenton, TM; Qin, D; Lade, SJ; Abrams, JF; Jacobson, L; Rocha, JC; Zimm, C; Bai, X; Bala, G; Bringezu, S; Broadgate, W; Bunn, SE; et al.; Winkelmann, R, Identifying a Safe and Just Corridor for People and the Planet, Earth's Future, 2021, 9 (4), pp. e2020EF001866; http://hdl.handle.net/10072/404608Test

الإتاحة: https://doi.org/10.1029/2020EF001866Test
http://hdl.handle.net/10072/404608Test