UI Index

Relationship between Topoisomerase 2A RNA Expression and Recurrence after Adjuvant Chemotherapy for Breast Cancer.

Clinical cancer research : an official journal of the American Association for Cancer Research

Sparano JA, Goldstein LJ, Childs BH, Shak S, Brassard D, Badve S, Baehner FL, Bugarini R, Rowley S, Perez E, Shulman LN, Martino S, Davidson NE, Sledge GW, Gray R.
PMID: 19996222
Clin Cancer Res. 2009 Dec 15;15(24):7693-7700. doi: 10.1158/1078-0432.CCR-09-1450.

PURPOSE: To perform an exploratory analysis of the relationship between gene expression and recurrence in operable hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-normal breast cancer patients treated with adjuvant doxorubicin-containing chemotherapy. EXPERIMENTAL DESIGN: RNA was extracted...

A factor analytic study of the Italian National Institute of Health Quality of Life - Core Evaluation Form (ISSQoL-CEF).

Patient preference and adherence

Lauriola M, Murri R, Massella M, Mirra M, Donnini S, Fragola V, Ivanovic J, Pavoni M, Mancini G, Bucciardini R.
PMID: 20361064
Patient Prefer Adherence. 2010 Mar 24;4:33-44. doi: 10.2147/ppa.s6454.

OBJECTIVES: The Italian National Institute of Health Quality of Life - Core Evaluation Form (ISSQoL-CEF) is a specific questionnaire measuring health-related quality of life for human immunodeficiency virus-infected people in the era of highly active antiretroviral therapy. The main...

Homozygous mutation in .

Neurology. Genetics

Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E.
PMID: 28702508
Neurol Genet. 2017 Jul 06;3(4):e168. doi: 10.1212/NXG.0000000000000168. eCollection 2017 Aug.

No abstract available.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in .

Journal of clinical medicine

Bugiardini E, Pope S, Feichtinger RG, Poole OV, Pittman AM, Woodward CE, Heales S, Quinlivan R, Houlden H, Mayr JA, Hanna MG, Pitceathly RDS.
PMID: 31288420
J Clin Med. 2019 Jul 08;8(7). doi: 10.3390/jcm8070991.

No abstract available.

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA.

Neurology. Genetics

Poole OV, Horga A, Hardy SA, Bugiardini E, Woodward CE, Hargreaves IP, Merve A, Quinlivan R, Taylor RW, Hanna MG, Pitceathly RDS.
PMID: 32337339
Neurol Genet. 2020 Mar 18;6(2):e413. doi: 10.1212/NXG.0000000000000413. eCollection 2020 Apr.

No abstract available.

Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants.

Circulation. Genomic and precision medicine

Lopes LR, Murphy D, Bugiardini E, Salem R, Jager J, Futema M, Majid Akhtar M, Savvatis K, Woodward C, Pittman AM, Hanna MG, Syrris P, Pitceathly RDS, Elliott PM.
PMID: 33970670
Circ Genom Precis Med. 2021 Jun;14(3):e003388. doi: 10.1161/CIRCGEN.121.003388. Epub 2021 May 10.

No abstract available.

Cardiovascular disease and COVID-19: a consensus paper from the ESC Working Group on Coronary Pathophysiology & Microcirculation, ESC Working Group on Thrombosis and the Association for Acute CardioVascular Care (ACVC), in collaboration with the European Heart Rhythm Association (EHRA).

Cardiovascular research

Cenko E, Badimon L, Bugiardini R, Claeys MJ, De Luca G, de Wit C, Derumeaux G, Dorobantu M, Duncker DJ, Eringa EC, Gorog DA, Hassager C, Heinzel FR, Huber K, Manfrini O, Milicic D, Oikonomou E, Padro T, Trifunovic-Zamaklar D, Vasiljevic-Pokrajcic Z, Vavlukis M, Vilahur G, Tousoulis D.
PMID: 34528075
Cardiovasc Res. 2021 Dec 17;117(14):2705-2729. doi: 10.1093/cvr/cvab298.

The cardiovascular system is significantly affected in coronavirus disease-19 (COVID-19). Microvascular injury, endothelial dysfunction, and thrombosis resulting from viral infection or indirectly related to the intense systemic inflammatory and immune responses are characteristic features of severe COVID-19. Pre-existing cardiovascular...

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Neurology. Genetics

Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM.
PMID: 31119193
Neurol Genet. 2019 Apr 01;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr.

OBJECTIVE: To characterize the phenotype in individuals with METHODS: Two probands with multiple affected relatives and one sporadic case were referred for evaluation of a PN. Their phenotype was determined by clinical ± neurophysiological assessment. Neuropathologic examination of sural...

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Nature genetics

Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S.
PMID: 32367058
Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 04.

Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG (p.Ala253GlnfsTer27) variant in SORD, in...

Reperfusion therapy for ST-elevation acute myocardial infarction in Eastern Europe: the ISACS-TC registry.

European heart journal. Quality of care & clinical outcomes

Cenko E, Ricci B, Kedev S, Vasiljevic Z, Dorobantu M, Gustiene O, Kneževic B, Milicic D, Dilic M, Trninic D, Smith F, Manfrini O, Badimon L, Bugiardini R.
PMID: 29474588
Eur Heart J Qual Care Clin Outcomes. 2016 Jan 01;2(1):45-51. doi: 10.1093/ehjqcco/qcv025.

AIMS: Widespread availability of tertiary hospitals with catheterization facilities, although vigorously promoted, has yet to become a reality in many countries with economy in transition. We sought to evaluate the clinical profile and mortality of patients who were hospitalized...

Physician survey of the effect of the 21-gene recurrence score assay results on treatment recommendations for patients with lymph node-positive, estrogen receptor-positive breast cancer.

Journal of oncology practice

Oratz R, Kim B, Chao C, Skrzypczak S, Ory C, Bugarini R, Broder M.
PMID: 21731516
J Oncol Pract. 2011 Mar;7(2):94-9. doi: 10.1200/JOP.2010.000046.

PURPOSE: To survey the effect of the 21-gene recurrence score (RS) assay results on adjuvant treatment recommendations for patients with lymph node-positive (N+), estrogen receptor-positive (ER+) breast cancer.METHODS: Medical oncologists who ordered the 21-gene RS assay were invited to...

T20QoL: an observational multicenter cohort study to evaluate the quality of life in HIV-patients treated with enfuvirtide (ENF, T-20) in combination with an optimized background therapy.

Biologics : targets & therapy

Bucciardini R, Massella M, Corpolongo A, Narciso P, Fragola V, Mirra M, Donnini S, Viganò O, Costarelli S, Tozzi V.
PMID: 19707388
Biologics. 2008 Sep;2(3):577-81. doi: 10.2147/btt.s3187.

AIM: To evaluate the impact of health-related quality of life (HRQoL) enfuvirtide-based (ENF-based) salvage regimens of treatment-experienced HIV patients, in an observational multicenter cohort study.METHODS: HRQoL was measured in a cohort of 16 patients over a 6-month follow-up using...