Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population

Background: The literature on biomarker testing for metastatic colorectal cancer (mCRC) in Europe is scarce. This study aimed to estimate the percentage of mCRC patients from five European countries tested for biomarkers over time. Materials & methods: An oncology database was retrospectively analyzed; evaluated biomarkers were RAS, BRAF and microsatellite instability (MSI). The patients were drug treated during 2018 and tested for relevant biomarkers in 2013–2018. Results: RAS testing was conducted in >90% of mCRC patients from 2014 onwards. BRAF testing increased from 31% of mCRC patients in 2013 to 67% in 2018. MSI testing increased from 10 to 41%. There was no notable trend over time for RAS and BRAF mutation or MSI-high prevalence. Conclusion: Biomarker testing among patients diagnosed with mCRC was increased over time. This study demonstrates the quick uptake of biomarker testing in clinical practice. These findings are significant as biomarker-based drugs are becoming more common.

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Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene

Journal of the Neurological Sciences ◽

10.1016/j.jns.2010.03.009 ◽

2010 ◽

Vol 293 (1-2) ◽

pp. 112-115 ◽

Cited By ~ 9

Author(s):

Stefania Battistini ◽

Claudia Ricci ◽

Enrico Maria Lotti ◽

Michele Benigni ◽

Stella Gagliardi ◽

...

Keyword(s):

Sod1 Gene ◽

Familial Als ◽

Exon 4 ◽

Novel Exon

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Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

Molecular and Cellular Probes ◽

10.1006/mcpr.1994.1046 ◽

1994 ◽

Vol 8 (4) ◽

pp. 329-330 ◽

Cited By ~ 32

Author(s):

Cheryl T. Jones ◽

Pamela J. Shaw ◽

G. Chari ◽

David J.H. Brock

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Amyotrophic Lateral Sclerosis Patient ◽

Sporadic Amyotrophic Lateral Sclerosis ◽

Sod1 Mutation ◽

Exon 4 ◽

Novel Exon ◽

Lateral Sclerosis

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Comorbidity in real clinical practice - the patient with gout, cardiovascular disease and kidney damage

South Russian Journal of Therapeutic Practice ◽

10.21886/2712-8156-2021-2-3-112-117 ◽

2021 ◽

Vol 2 (3) ◽

pp. 112-117

Author(s):

N. A. Kosheleva ◽

N. A. Magdeeva

Keyword(s):

Clinical Practice ◽

Progressive Increase ◽

Control Treatment ◽

Comorbid Conditions ◽

Treatment Efficiency ◽

Number Of Patients ◽

High Prevalence ◽

Systemic Side Effects ◽

Adherence To Therapy ◽

Real Clinical Practice

In real clinical practice more and more often doctors treat comorbid patients. The high prevalence of cardiovascular diseases with various comorbid conditions contributes to the progressive increase in the number of patients with a concurrence of several diseases. A comorbid patient is a serious problem for any clinician, since in this case it is necessary to take into account several components of therapy, which makes it difficult to control treatment efficiency, contributes to an increase in polypharmacy, the risk of local and systemic side effects of drugs, and reduces adherence to therapy. A comorbid patient is a serious problem for any clinician. The paper describes and discusses the clinical case of a comorbid patient, who admitted to the cardiological department initially but he had also rheumatological problems (gout), kidney affection.

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Anti-TIF-1γ Antibody Detection Using a Commercial Kit vs In-House Immunoblot: Usefulness in Clinical Practice

Frontiers in Immunology ◽

10.3389/fimmu.2020.625896 ◽

2021 ◽

Vol 11 ◽

Author(s):

Anaís Mariscal ◽

Milena Milán ◽

Andrés Baucells ◽

Maria Angeles Martínez ◽

Andrea Garcia Guillen ◽

...

Keyword(s):

Clinical Practice ◽

Connective Tissue ◽

Gold Standard ◽

Connective Tissue Diseases ◽

Antibody Detection ◽

Immunoblot Assay ◽

High Prevalence ◽

Autoantibody Detection ◽

Undifferentiated Connective Tissue Diseases ◽

Commercial Kit

ObjectivesAnti-TIF-1γ autoantibody detection is important for cancer screening in patients with dermatomyositis. The gold standard for anti-TIF-1γ detection, immunoprecipitation, is only available from a few specialized laboratories worldwide, so commercial ELISA/immunoblot tests have emerged in recent years. To analyze their usefulness in diagnosing cancer-associated dermatomyositis, we compared Euroimmun Euroline profile with our previously validated in-house immunoblot assay with human recombinant TIF-1γ.MethodsWe included 308 adult patients from Hospital de la Santa Creu I Sant Pau and Vall Hebrón Hospital (Barcelona, Spain) tested for anti-TIF-1γ autoantibodies using the Euroline profile and an in-house immunoblot assay.ResultsA total of 27 anti-TIF-1γ were detected by the Euroline and 12 by the in-house assay. Fair agreement was observed between Euroline and the in-house immunoblot Cohen’s kappa 0.3163. Expected prevalence of anti-TIF-1γ autoantibodies was observed for the two methods for dermatomyositis and undifferentiated connective tissue diseases, but unexpectedly high prevalence of anti-TIF-1γ autoantibodies was detected by Euroline compared to the in-house immunoblot for other diseases (16.5% Euroline vs 0.8% in-house immunoblot, p<0.01). The in-house IB compared to Euroline more reliably detected cancer in patients with DM with anti-TIF-1γ antibodies (p=0.0014 vs p=0.0502 for in-house immunoblot vs Euroline).ConclusionWe recommend using a second validated method to confirm Euroline-detected anti-TIF-1γ antibodies when the dermatomyositis diagnosis is not definitive. Furthermore, in the context of definite DM diagnosis with negative anti-TIF-1γ antibodies by Euroline and no other myositis specific antibody, is also recommendable to confirm by a second validated method.

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Phosphogliv® URSO: a comprehensive approach to the treatment of biliary pathology

Remedium Journal about the Russian market of medicines and medical equipment ◽

10.21518/1561-5936-2020-9-32-34 ◽

2020 ◽

pp. 32-34

Author(s):

Irina Shirokova ◽

Keyword(s):

Quality Of Life ◽

Clinical Practice ◽

Social Problem ◽

Medical Science ◽

Significant Progress ◽

High Prevalence ◽

Working Age ◽

Biliary Pathology ◽

Working Age Population

Biliary diseases are the most important medical and social problem associated with a high prevalence among working age population and a significant decrease in patients’ quality of life. Modern therapy methods, including the latest advances in medical science, have sustained significant progress in the treatment of biliary pathology. The design and introduction into clinical practice of the original drug Phosphogliv URSO has become an important step in making progress in this direction.

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Consumption of psychiatric drugs by patients of medical and surgical clinics in a general hospital

Revista Latino-Americana de Enfermagem ◽

10.1590/s0104-11692013000400017 ◽

2013 ◽

Vol 21 (4) ◽

pp. 948-955 ◽

Cited By ~ 2

Author(s):

Flavio Hiroshi Shirama ◽

Adriana Inocenti Miasso

Keyword(s):

Clinical Practice ◽

Quantitative Analysis ◽

General Hospital ◽

Health Professionals ◽

Common Mental Disorders ◽

Roman Catholicism ◽

Structured Interviews ◽

Psychiatric Drugs ◽

High Prevalence ◽

Benzodiazepine Drugs

PURPOSES: to identify the prevalence of the use of psychiatric drugs among patients admitted to medical and surgical clinics of a general hospital, and also the factors related to the consumption of this type of medication. METHOD: this is a transversal, descriptive, correlational study with quantitative analysis. For the collection of data, there was use of structured interviews and also reference to medical files. RESULTS: there was confirmation of a high prevalence of users of psychiatric drugs, which was associated to the female sex, to people who do not practice Roman Catholicism, and admittance to the clinic not covered by the Single Health System (Sistema Único de Saúde - SUS), as well as the presence of common mental disorders. Benzodiazepine drugs were the most commonly used psychiatric drugs. Among the total number of users, there has been the identification of patients who were not aware that they were receiving such medication. Doctors who are not psychiatrists were responsible for most prescriptions of psychiatric drugs. CONCLUSIONS: this signals the need to prepare health professionals to deal with psychological and social problems commonly found in clinical practice, in order to promote the rational use of psychiatric drugs.

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