Deutsche medizinische Wochenschrift
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Dtsch. Med. Wochenschr. · Jun 2023
Review[Clinical Application Examples of a Next-Generation Sequencing based Multi-Genepanel Analysis].
This review provides an overview of clinically useful applications of a next-generation sequencing (NGS)-based multi-gene panel testing strategy in the areas of oncology, hereditary tumor syndromes, and hematology. In the case of solid tumors (e.g. lung carcinoma, colon-rectal carcinoma), the detection of somatic mutations contributes not only to a better diagnostic but also therapeutic stratification of those affected. ⋯ Another useful indication for a multi-gene panel diagnostics and prognosis assessment are acute and chronic myeloid diseases. The criteria of the WHO-classification and the European LeukemiaNet-prognosis system for acute myeloid leukemia can only be met by a multi-gene panel test strategy.
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Dtsch. Med. Wochenschr. · Jun 2023
Randomized Controlled Trial[Endovascular Therapy for Peripheral Artery Disease - Therapeutic Options for Treatment of Severe Calcification].
Calcified lesions are a major limitation of endovascular therapy of peripheral artery disease. Recently published studies evaluating the impact of lithotripsy (Disrupt III) and directional atherectomy (REALITY) as vessel preparation devices for calcified femoro-popliteal lesions prior to the final treatment with drug-coated balloons (DCB). Disrupt III, a randomized controlled trial comparing lithotripsy and regular balloon angioplasty for vessel preparation prior to DCB, and REALITY, a single-arm study of directional atherectomy prior to DCB angioplasty resulted in low provisional stent and dissection rates. ⋯ Importantly, both vessel preparation strategies resulted in a low rate of post-procedural residual stenosis of >30%, the major predictor for loss of patency following DCB angioplasty in long-term. Lithotripsy is an emerging therapy concept for vessel preparation of calcified pelvic arteries prior to trans-femoral aortic valve implantation. In summary, vessel preparation of calcified arterial lesions by improving vessel compliance or reducing the plaque load represent promising technical methods reducing provisional stent rates and improving longer-term outcomes.
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Dtsch. Med. Wochenschr. · Jun 2023
[Update on Adult-Onset Still's Disease: Diagnosis, Therapy and Guideline].
Adult-onset Still's disease (ASOD) is an autoinflammatory disease of unknown etiology which is pathogenetically characterized by an involvement of the innate immune response with activation of neutrophils and an increased secretion of IL-1, IL-6, IL-18, type 1 interferons. Still's disease may occur at any age with distinct variability in signs and symptoms. Recently, the German Society of Rheumatology (DGRh) has issued an AOSD guideline which recommends diagnosing AOSD based on a characteristic combination of symptoms including intermittent fever, rash, arthralgia, and arthritis after exclusion of infections, neoplasms and other rheumatological conditions. ⋯ Important complications to consider consist in perimyocarditis, a multi-faceted pulmonary involvement, and macrophage activation syndrome (MAS). MAS features multi-organ involvement and cytopenias. Besides supportive measures often requiring intensive care, high dose glucocorticosteroids as well as above named biologics, and if necessary, also etoposide based therapeutic regimen are used.
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Dtsch. Med. Wochenschr. · Jun 2023
[COPD - what has changed in GOLD 2023 and is relevant for clinical practice?].
The annual report of the Global Initiative for Chronic Obstructive Lung Disease (GOLD) is one of the most relevant documents covering prevention, diagnosis and treatment of chronic obstructive pulmonary disease (COPD). The 2023 edition contains a number of changes with impact on clinical practice. For assessment and categorization, a new patient group termed E based on individual exacerbation history has been introduced. ⋯ When there is an indication for ICS therapy, a combination of LABA, LAMA and ICS should be used. For these triple combinations, a significant reduction of mortality could be demonstrated in selected patient populations. GOLD proposes a new definition and assessment of COPD exacerbations focussing on objectively assessible parameters and relevant differential diagnoses.