Sickle cell disease today: a 75-year journey from "first molecular disease" to "first gene-editing therapy"
Swiss Med Wkly. 2024 Apr 10;154:3829. doi: 10.57187/s.3829.NO ABSTRACTPMID:38616700 | DOI:10.57187/s.3829 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 15, 2024 Category: General Medicine Authors: Marc Schapira Mark J Koury Irene Roberts Source Type: research

Sickle cell disease today: a 75-year journey from "first molecular disease" to "first gene-editing therapy"
Swiss Med Wkly. 2024 Apr 10;154:3829. doi: 10.57187/s.3829.NO ABSTRACTPMID:38616700 | DOI:10.57187/s.3829 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 15, 2024 Category: General Medicine Authors: Marc Schapira Mark J Koury Irene Roberts Source Type: research

Exploring viral aetiology in upper respiratory tract infections: insights from metagenomic next-generation sequencing in Swiss outpatients before and during the SARS-CoV-2 pandemic
CONCLUSIONS: Viral mNGS allowed the initial diagnosis to be retrospectively re-evaluated. Assuming reduced turnaround times, mNGS has the potential to directly guide the treatment of upper respiratory tract infections. On an epidemiological level, our study highlights the utility of mNGS in respiratory infection surveillance, allowing early detection of epidemics and providing information crucial for prevention.PMID:38587784 | DOI:10.57187/s.3797 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 8, 2024 Category: General Medicine Authors: Verena Kufner Andrea C Frey Sara H Burkhard Stefan Schmutz Gabriela Ziltener Maryam Zaheri Caroline V Wiedmer Andreas Plate Alexandra Trkola Michael Huber Nicolas J Mueller Source Type: research

Exploring viral aetiology in upper respiratory tract infections: insights from metagenomic next-generation sequencing in Swiss outpatients before and during the SARS-CoV-2 pandemic
CONCLUSIONS: Viral mNGS allowed the initial diagnosis to be retrospectively re-evaluated. Assuming reduced turnaround times, mNGS has the potential to directly guide the treatment of upper respiratory tract infections. On an epidemiological level, our study highlights the utility of mNGS in respiratory infection surveillance, allowing early detection of epidemics and providing information crucial for prevention.PMID:38587784 | DOI:10.57187/s.3797 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 8, 2024 Category: General Medicine Authors: Verena Kufner Andrea C Frey Sara H Burkhard Stefan Schmutz Gabriela Ziltener Maryam Zaheri Caroline V Wiedmer Andreas Plate Alexandra Trkola Michael Huber Nicolas J Mueller Source Type: research

Exploring viral aetiology in upper respiratory tract infections: insights from metagenomic next-generation sequencing in Swiss outpatients before and during the SARS-CoV-2 pandemic
CONCLUSIONS: Viral mNGS allowed the initial diagnosis to be retrospectively re-evaluated. Assuming reduced turnaround times, mNGS has the potential to directly guide the treatment of upper respiratory tract infections. On an epidemiological level, our study highlights the utility of mNGS in respiratory infection surveillance, allowing early detection of epidemics and providing information crucial for prevention.PMID:38587784 | DOI:10.57187/s.3797 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 8, 2024 Category: General Medicine Authors: Verena Kufner Andrea C Frey Sara H Burkhard Stefan Schmutz Gabriela Ziltener Maryam Zaheri Caroline V Wiedmer Andreas Plate Alexandra Trkola Michael Huber Nicolas J Mueller Source Type: research

Exploring viral aetiology in upper respiratory tract infections: insights from metagenomic next-generation sequencing in Swiss outpatients before and during the SARS-CoV-2 pandemic
CONCLUSIONS: Viral mNGS allowed the initial diagnosis to be retrospectively re-evaluated. Assuming reduced turnaround times, mNGS has the potential to directly guide the treatment of upper respiratory tract infections. On an epidemiological level, our study highlights the utility of mNGS in respiratory infection surveillance, allowing early detection of epidemics and providing information crucial for prevention.PMID:38587784 | DOI:10.57187/s.3797 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 8, 2024 Category: General Medicine Authors: Verena Kufner Andrea C Frey Sara H Burkhard Stefan Schmutz Gabriela Ziltener Maryam Zaheri Caroline V Wiedmer Andreas Plate Alexandra Trkola Michael Huber Nicolas J Mueller Source Type: research

Exploring viral aetiology in upper respiratory tract infections: insights from metagenomic next-generation sequencing in Swiss outpatients before and during the SARS-CoV-2 pandemic
CONCLUSIONS: Viral mNGS allowed the initial diagnosis to be retrospectively re-evaluated. Assuming reduced turnaround times, mNGS has the potential to directly guide the treatment of upper respiratory tract infections. On an epidemiological level, our study highlights the utility of mNGS in respiratory infection surveillance, allowing early detection of epidemics and providing information crucial for prevention.PMID:38587784 | DOI:10.57187/s.3797 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 8, 2024 Category: General Medicine Authors: Verena Kufner Andrea C Frey Sara H Burkhard Stefan Schmutz Gabriela Ziltener Maryam Zaheri Caroline V Wiedmer Andreas Plate Alexandra Trkola Michael Huber Nicolas J Mueller Source Type: research

Pembrolizumab-associated anti-MDA5 dermatomyositis in a patient with lung cancer: a first case report
We report the first case of anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis as a systemic immune-related adverse event in a 64-year-old man receiving pembrolizumab to treat advanced lung cancer. The patient experienced hypothyroidism, myalgia, skin involvement, dyspnoea and diarrhoea. Laboratory tests revealed raised inflammatory markers, hypercreatinekinasemia and anti-MDA5 autoantibodies. Electroneuromyography and pathognomonic signs on physical examination confirmed the diagnosis of pauci-myopathic dermatomyositis. Pembrolizumab was discontinued and immunosuppressive therapy led to rapid ...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Antonino Marcello Pilia Lorenzo Salvati Alessia Guidolin Francesca Mazzoni Lorenzo Antonuzzo Paola Parronchi Francesco Liotta Source Type: research

Impact on diabetes control and patient-reported outcomes of a newer implantable continuous glucose monitoring system (Eversense ® CGM System): a single-centre retro- and prospective observational study
CONCLUSIONS: The use of the Eversense® CGM System resulted in changes in HbA1c of between -0.2% and -0.45%. The rate of premature sensor breakdown was low. Major complications following sensor implantation or removal were absent, apart from one case of infection and four cases of complicated removal. Patient-reported outcomes with the Eversense® CGM System showed a subjective positive impact on hypoglycaemia rates, greater confidence in managing hypoglycaemia and diabetes in general, and easy handling of the transmitter and mobile app. Technical issues must be considered but are nowadays, with the use of the newest senso...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: None Dimitri Guy Rohner None Lukas Burget None Christoph Henzen None Stefan Fischli Source Type: research

Clinical reasoning for the continuation or discontinuation of hip precautions after total hip arthroplasty in Switzerland: a qualitative study
CONCLUSION: A lack of clear instructions from the surgeon leads to ambiguity among therapists outside the acute hospital. A shared understanding of the need for and nature of hip precautions, guidelines from societies, or at least specific instructions from surgeons to therapists are warranted.PMID:38579291 | DOI:10.57187/s.3536 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Jaroslaw Krygowski Leah Reicherzer Thimo Marcin Source Type: research

Hepatitis C prevalence and cascade of care among patients in the decentralised opioid agonist therapy programme of the canton of St Gallen, Switzerland: a cross-sectional study
CONCLUSION: In the decentralised OAT setting of the canton of St Gallen, HCV Ab prevalence is high. Since HCV Ab and RNA screening uptake are markedly lower than in the centralised setting, potentially >40% of patients with chronic HCV are not diagnosed yet. HCV screening in the decentralised setting needs improvement, e.g. by increasing awareness and simplifying testing. High HCV treatment uptake and cure rates are possible in centralised and decentralised settings.PMID:38579293 | DOI:10.57187/s.3352 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Kerstin Wissel Pietro Vernazza Stefan Kuster Katharina Hensel-Koch Andrea Bregenzer Source Type: research

Lipoprotein(a) as a blood marker for large artery atherosclerosis stroke etiology: validation in a prospective cohort from a swiss stroke center
CONCLUSIONS: In a well-characterised cohort of patients with ischaemic stroke, we validated the association of higher Lp(a) levels with LAA stroke aetiology, independent of traditional cardiovascular risk factors. These findings may inform randomised clinical trials investigating the effect of Lp(a) lowering agents on cardiovascular outcomes. The CoRisk (CoPeptin for Risk Stratification in Acute Patients) study is registered on ClinicalTrials.gov.REGISTRATION NUMBER: NCT00878813.PMID:38579294 | DOI:10.57187/s.3633 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Salome Rudin Lilian Kriemler Tolga D Dittrich Annaelle Zietz Juliane Schweizer Markus Arnold Nils Peters Filip Barinka Simon Jung Marcel Arnold Urs Fischer Katharina Rentsch Mirjam Christ-Crain Mira Katan Gian Marco De Marchis Source Type: research

Perceptions and needs of an outpatient palliative care team regarding digital care conferences in palliative care: a mixed-method online survey
CONCLUSION: Digital care conferences are perceived as a feasible and useful tool by healthcare professionals in a local palliative care network in Switzerland. A pilot phase will be the next step towards systematic integration of this telemedicine modality into outpatient palliative care.PMID:38579295 | DOI:10.57187/s.3487 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Andreas Samuel Ebneter Maud Maessen Thomas C Sauter Georgette Jenelten Steffen Eychmueller Source Type: research

Successful treatment of immune checkpoint inhibitor-related periaortitis
We report a 64-year-old patient with melanoma receiving ipilimumab and nivolumab therapy who presented with a periaortic soft tissue mass around the abdominal aorta on restaging fluorodeoxyglucose positron emission tomography/computed tomography imaging. Clinical, laboratory, and radiologic findings resulted in a diagnosis of immune checkpoint inhibitor-related periaortitis. Periaortitis is a rare disease presenting with fibro-inflammatory tissue around the aorta and may lead to serious complications. Immune checkpoint inhibitors were discontinued, and the patient was treated with glucocorticoids, leading to a complete res...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Elias D B ührer Ian L Alberts Lisa Christ Berna C Özdemir Source Type: research

The magnitude of the plasma hepcidin response to oral iron supplements depends on the iron dosage
CONCLUSION: We found a dose-dependent effect of iron supplementation on plasma hepcidin levels. Lower iron dosage results in a smaller increase in hepcidin and might thus lead to more efficient intestinal iron absorption and fewer side effects. The effectiveness and side effects of low-dose iron treatment in women with iron deficiency should be further investigated. This study was registered at the Swiss National Clinical Trials Portal (2021-00312) and ClinicalTrials.gov (NCT04735848).PMID:38579297 | DOI:10.57187/s.3635 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Maximilian Karczewski Stana Simic Lanja Saleh Albina Nowak Morton G Schubert Diego Moretti Dorine W Swinkels Felix Beuschlein Paolo M Suter Pierre-Alexandre Krayenbuehl Source Type: research