Adam J. Streeter , Andreas Schmeling , André Karch
{"title":"How certainty is certain enough? Challenges in the statistical methodology for forensic age assessment of living individuals","authors":"Adam J. Streeter , Andreas Schmeling , André Karch","doi":"10.1016/j.medcle.2024.07.007","DOIUrl":"10.1016/j.medcle.2024.07.007","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 9","pages":"Pages e92-e97"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142650836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by a novel frameshift deletion mutation of the endoglin (ENG) gene","authors":"Jiangtao Wu , Bin Liu , Zhou Zhou","doi":"10.1016/j.medcle.2024.05.016","DOIUrl":"10.1016/j.medcle.2024.05.016","url":null,"abstract":"","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 9","pages":"Pages 473-474"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142656090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pilar Giraldo , María Camprodón , Paloma Cerro Alcolea , Elena Gras-Colomer , Daiana Ibarretxe , Sunil Lakhwani , Elvira Mora , María Purificación Velasco Calderón , Montserrat Morales-Conejo
{"title":"Identification of patient-reported outcomes measures (PROMs) and patient-reported experiences measures (PREMs) in Gaucher disease in Spain","authors":"Pilar Giraldo , María Camprodón , Paloma Cerro Alcolea , Elena Gras-Colomer , Daiana Ibarretxe , Sunil Lakhwani , Elvira Mora , María Purificación Velasco Calderón , Montserrat Morales-Conejo","doi":"10.1016/j.medcle.2024.06.004","DOIUrl":"10.1016/j.medcle.2024.06.004","url":null,"abstract":"<div><h3>Background</h3><div>Patient-reported outcome measures (PROMs) and patient-reported experiences measures (PREMs) are crucial for understanding the impact of GD on quality of life and patient's perceptions on care, but also to guide decision-making processes. Nevertheless, no specific PREMs in GD have been published, neither PROMs for Spanish GD patients have been developed.</div></div><div><h3>Methods</h3><div>Two project coordinators selected key-points to be included in a PROMs/PREMs questionnaire, and the scientific committee and a group of expert patients contributed to the initial draft. Then, 9 meetings with experts were held to discuss controversial points. After, a questionnaire with 103 items regarding symptomatology, aspects of daily life and care experience was developed. Finally, it was conducted a Delphi survey among a multidisciplinary group of experts in GD.</div></div><div><h3>Results</h3><div>Consensus was reached on 85 out of the 103 items. Recommendations on PROMs and PREMs regarding symptomatology, aspects of daily life and care experience were obtained. Consensus was reached on the importance of considering fatigue, concentration problems, and communication issues in GD patients using 5-step analog scales. Panelists recommended asking GD patients about the impact on social functioning and work/school performance. Finally, consensus was reached on considering care experiences, such as treatment satisfaction, treatment interruptions or transitions and healthcare professionals involved in patient's management to perceive patient's perceptions.</div></div><div><h3>Conclusion</h3><div>This expert consensus may help developing GD-specific PROMs/PREMs for improving GD management. Properly developed and validated PROMs/PREMs may help decision-making, establishing patient-tailored therapeutic and follow-up goals.</div></div>","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 9","pages":"Pages 449-457"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142656086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Robert Güerri-Fernández , Josep Benet , César Vargas
{"title":"Medical-legal aspects in infectious diseases","authors":"Robert Güerri-Fernández , Josep Benet , César Vargas","doi":"10.1016/j.medcle.2024.06.005","DOIUrl":"10.1016/j.medcle.2024.06.005","url":null,"abstract":"<div><div>This article reviews the medico-legal aspects associated with infectious diseases, highlighting their complexity and the challenges they pose. Infectious diseases cause not only an increase in morbidity and mortality in the healthcare setting but also involve complex legal issues. Healthcare-Associated Infections (HAIs) represent a growing risk with the increase in invasive procedures and can lead to patient complications and legal claims against healthcare professionals and institutions. The consequences of medical malpractice in this context are discussed, such as diagnostic delays, inappropriate use of treatments, and lack of adequate testing, which can have serious sequelae or even result in the patient's death.</div><div>The review focuses on highlighting the importance of prevention, considering that healthcare-associated infections can be difficult to avoid, posing complex legal challenges.</div><div>It concludes that managing infectious diseases and their legal consequences requires careful consideration of clinical practice guidelines, prevention and control strategies, and effective communication with patients. An integrated and evidence-based approach is advocated to address these challenges, emphasizing continuous education, the use of advanced diagnostic technologies, and interdisciplinary collaboration.</div></div>","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 9","pages":"Pages e98-e102"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142656092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sonia Pascual García , Ana Castell Herrera , Juan Julian Cuesta Pérez , Adriana Rodriguez Perojo , Araceli Abad Fernández , Maria Teresa Río Ramirez
{"title":"Catheter directed therapy in high-risk pulmonary embolism: Analysis of 9 cases","authors":"Sonia Pascual García , Ana Castell Herrera , Juan Julian Cuesta Pérez , Adriana Rodriguez Perojo , Araceli Abad Fernández , Maria Teresa Río Ramirez","doi":"10.1016/j.medcle.2024.04.027","DOIUrl":"10.1016/j.medcle.2024.04.027","url":null,"abstract":"<div><h3>Background</h3><div>Mechanical thrombectomy is a useful technique in patients with high-risk pulmonary embolism. It is indicated as an alternative to systemic fibrinolysis when it is contraindicated or as an adjuvant therapy when it fails.</div></div><div><h3>Objective</h3><div>To describe clinical characteristics, evolution and survival of patients with high-risk pulmonary embolism who have undergone mechanical thrombectomy.</div></div><div><h3>Method</h3><div>Single-center retrospective descriptive study of consecutive patients who underwent mechanical thrombectomy. Demographic, clinical and survival variables were analyzed.</div></div><div><h3>Results</h3><div>9 patients were included (56% men, 44% women). All patients had pulmonary artery pressure assessed using a Swan-Ganz catheter before thrombectomy. The median pulmonary artery pressure before the procedure was 46<!--> <!-->mmHg (51−38<!--> <!-->mmHg). Systemic fibrinolysis was also performed in 5 cases, in 2 of them in the setting of cardiorespiratory arrest, without hemorrhagic complications. No patient died during hospitalization. Survival one month after the procedure was 100%.</div></div><div><h3>Conclusions</h3><div>In our series, mechanical thrombectomy is a useful technique as an alternative to systemic fibrinolysis or as an adjuvant therapy to it.</div></div>","PeriodicalId":74154,"journal":{"name":"Medicina clinica (English ed.)","volume":"163 9","pages":"Pages 469-472"},"PeriodicalIF":0.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142656089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}