Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 70 entries
Sorted by: Best Match Show Resources per page
Haematological malignancies and acute kidney injury requiring nephrology consultation: challenging the worst of the worst.

Clinical kidney journal

Chuva T, Maximino J, Barbosa J, Silva S, Paiva A, Baldaia J, Loureiro A.
PMID: 27274827
Clin Kidney J. 2016 Jun;9(3):418-23. doi: 10.1093/ckj/sfw026. Epub 2016 May 04.

BACKGROUND: Acute kidney injury (AKI) often complicates the course of haematological malignancies (HMs) and confers a worse prognosis. The majority of these patients are managed by the attending physician, yet, a small group, mostly coincident with the worst presentation...

Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.

Oncology letters

Diez O, Pelegrí A, Gadea N, Gutiérrez-Enríquez S, Masas M, Tenés A, Bosch N, Balmaña J, Graña B.
PMID: 22848303
Oncol Lett. 2011 Nov;2(6):1287-1289. doi: 10.3892/ol.2011.390. Epub 2011 Aug 19.

Limited information exists regarding BRCA1 and BRCA2 genetic testing and genetic diversity in BRCA1 and BRCA2 in sub-Saharan African populations. We report a novel mutation that consists of a deletion of 2 bp (c.1949_1950delTA) in the exon 11 of...

Tuning the overlap and the cross-layer correlations in two-layer networks: Application to a susceptible-infectious-recovered model with awareness dissemination.

Physical review. E

Juher D, Saldaña J.
PMID: 29776021
Phys Rev E. 2018 Mar;97(3):032303. doi: 10.1103/PhysRevE.97.032303.

We study the properties of the potential overlap between two networks A,B sharing the same set of N nodes (a two-layer network) whose respective degree distributions p_{A}(k),p_{B}(k) are given. Defining the overlap coefficient α as the Jaccard index, we...

Correction to: Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study.

Breast cancer (Tokyo, Japan)

Koh SJ, Ohsumi S, Takahashi M, Fukuma E, Jung KH, Ishida T, Dai MS, Chang CH, Dalvi T, Walker G, Bennett J, O'Shaughnessy J, Balmaña J.
PMID: 34562259
Breast Cancer. 2022 Jan;29(1):189-190. doi: 10.1007/s12282-021-01299-w.

No abstract available.

Contemporary outcomes of bladder carcinoma in situ treated with an adequate bacille Calmette-Guérin immunotherapy.

BJU international

Subiela JD, Rodríguez Faba Ó, Aumatell J, Calderón J, Mercadé A, Balañà J, Esquinas C, Algaba F, Breda A, Palou J.
PMID: 34375494
BJU Int. 2021 Aug 10; doi: 10.1111/bju.15567. Epub 2021 Aug 10.

OBJECTIVE: To assess whether bacillus Calmette-Guérin (BCG) responsiveness after initiation of an adequate BCG treatment (at least five of six instillations of induction and at least two of three instillations of maintenance) impacts oncological outcomes in patients with carcinoma...

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Cancers

Moles-Fernández A, Domènech-Vivó J, Tenés A, Balmaña J, Diez O, Gutiérrez-Enríquez S.
PMID: 34283047
Cancers (Basel). 2021 Jul 03;13(13). doi: 10.3390/cancers13133341.

The contribution of deep intronic splice-altering variants to hereditary breast and ovarian cancer (HBOC) is unknown. Current computational in silico tools to predict spliceogenic variants leading to pseudoexons have limited efficiency. We assessed the performance of the SpliceAI tool...

Heterogeneity of Diabetes: β-Cells, Phenotypes, and Precision Medicine: Proceedings of an International Symposium of the Canadian Institutes of Health Research's Institute of Nutrition, Metabolism and Diabetes and the U.S. National Institutes of Health's National Institute of Diabetes and Digestive and Kidney Diseases.

Diabetes

Cefalu WT, Andersen DK, Arreaza-Rubín G, Pin CL, Sato S, Verchere CB, Woo M, Rosenblum ND, Rosenblum N, Cefalu W, Andersen DK, Arreaza-Rubín G, Dhara C, James SP, Makarchuk MJ, Pin CL, Sato S, Verchere B, Woo M, Powers A, Estall J, Hoesli C, Millman J, Linnemann A, Johnson J, Pin CL, Hawkins M, Woo M, Gloyn A, Cefalu W, Rosenblum N, Huising MO, Benninger RKP, Almaça J, Hull-Meichle RL, MacDonald P, Lynn F, Melero-Martin J, Yoshihara E, Stabler C, Sander M, Evans-Molina C, Engin F, Thompson P, Shalev A, Redondo MJ, Nadeau K, Bellin M, Udler MS, Dennis J, Dash S, Zhou W, Snyder M, Booth G, Butte A, Florez J.
PMID: 34957490
Diabetes. 2021 Nov 13; doi: 10.2337/db21-0777. Epub 2021 Nov 13.

One hundred years have passed since the discovery of insulin-an achievement that transformed diabetes from a fatal illness into a manageable chronic condition. The decades since that momentous achievement have brought ever more rapid innovation and advancement in diabetes...

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

The Journal of molecular diagnostics : JMD

Rofes P, González S, Navarro M, Moreno-Cabrera JM, Solanes A, Darder E, Carrasco E, Iglesias S, Salinas M, Gómez C, Velasco À, Tuset N, Varela M, Llort G, Ramon Y Cajal T, Grau È, Dueñas N, de la Ossa Merlano N, Matías-Guiu X, Rivera B, Balmaña J, Pineda M, Brunet J, Capellá G, Del Valle J, Lázaro C.
PMID: 34454113
J Mol Diagn. 2021 Nov;23(11):1452-1459. doi: 10.1016/j.jmoldx.2021.07.024. Epub 2021 Aug 25.

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome responsible for 1% of colorectal cancers (CRCs). Up to 90% of classic FAPs are caused by inactivating mutations in APC, and mosaicism has been previously reported in 20% of de...

Clinical consequences of BRCA2 hypomorphism.

NPJ breast cancer

Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J.
PMID: 34504103
NPJ Breast Cancer. 2021 Sep 09;7(1):117. doi: 10.1038/s41523-021-00322-9.

The tumor suppressor FANCD1/BRCA2 is crucial for DNA homologous recombination repair (HRR). BRCA2 biallelic pathogenic variants result in a severe form of Fanconi anemia (FA) syndrome, whereas monoallelic pathogenic variants cause mainly hereditary breast and ovarian cancer predisposition. For...

Nonintensivist Training to Increase the Staff Capacity of Intensive Care Units During COVID-19 Pandemic Surge in Argentina.

Disaster medicine and public health preparedness

Monteverde E, Bosque L, Klappenbach R, Baliña J, Lartigue B, Arán MI, Cano N, Reina R, Silberman P, Ortiz C, Gutiérrez V, Neira J.
PMID: 34462041
Disaster Med Public Health Prep. 2021 Aug 31;1-7. doi: 10.1017/dmp.2021.282. Epub 2021 Aug 31.

OBJECTIVE: The aim of this study was to report the results of a nationwide critical-care course for non-intensivists to increase staff capacity of intensive care units (ICUs) during the coronavirus disease 2019 (COVID-19) pandemic in Argentina.METHODS: Three academic organizations,...

Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association

Sánchez A, Roos VH, Navarro M, Pineda M, Caballol B, Moreno L, Carballal S, Rodríguez-Alonso L, Ramon Y Cajal T, Llort G, Piñol V, López-Fernández A, Salces I, Picó MD, Rivas L, Bujanda L, Garzon M, Pizarro A, Martinez de Castro E, López-Arias MJ, Poves C, Garau C, Rodriguez-Alcalde D, Herraiz M, Alvarez-Urrutia C, Dacal A, Carrillo-Palau M, Cid L, Ponce M, Barreiro-Alonso E, Saperas E, Aguirre E, Romero C, Bastiaansen B, Gonzalez-Acosta M, Morales-Romero B, Ocaña T, Rivero-Sánchez L, Jung G, Bessa X, Cubiella J, Jover R, Rodríguez-Moranta F, Balmaña J, Brunet J, Castells A, Dekker E, Capella G, Serra-Burriel M, Moreira L, Pellise M, Balaguer F.
PMID: 33157315
Clin Gastroenterol Hepatol. 2020 Nov 03; doi: 10.1016/j.cgh.2020.11.002. Epub 2020 Nov 03.

BACKGROUND & AIMS: Colonoscopy reduces colorectal cancer (CRC) incidence and mortality in Lynch syndrome (LS) carriers. However, a high incidence of postcolonoscopy CRC (PCCRC) has been reported. Colonoscopy is highly dependent on endoscopist skill and is subject to quality...

Safety of assisted reproductive techniques in young women harboring germline pathogenic variants in BRCA1/2 with a pregnancy after prior history of breast cancer.

ESMO open

Condorelli M, Bruzzone M, Ceppi M, Ferrari A, Grinshpun A, Hamy AS, de Azambuja E, Carrasco E, Peccatori FA, Di Meglio A, Paluch-Shimon S, Poorvu PD, Venturelli M, Rousset-Jablonski C, Senechal C, Livraghi L, Ponzone R, De Marchis L, Pogoda K, Sonnenblick A, Villarreal-Garza C, Córdoba O, Teixeira L, Clatot F, Punie K, Graffeo R, Dieci MV, Pérez-Fidalgo JA, Duhoux FP, Puglisi F, Ferreira AR, Blondeaux E, Peretz-Yablonski T, Caron O, Saule C, Ameye L, Balmaña J, Partridge AH, Azim HA, Demeestere I, Lambertini M.
PMID: 34775302
ESMO Open. 2021 Nov 11;6(6):100300. doi: 10.1016/j.esmoop.2021.100300. Epub 2021 Nov 11.

BACKGROUND: Knowledge is growing on the safety of assisted reproductive techniques (ART) in cancer survivors. No data exist, however, for the specific population of breast cancer patients harboring germline BRCA1/2 pathogenic variants.PATIENTS AND METHODS: This is a multicenter retrospective...

Showing 1 to 12 of 70 entries