Medicina Clinica最新文献

{"title":"Parkinsonism in liver diseases or dysfunction","authors":"Sichen Li,&nbsp;Yuxia Zhua,&nbsp;Xi Liu","doi":"10.1016/j.medcli.2024.04.022","DOIUrl":"10.1016/j.medcli.2024.04.022","url":null,"abstract":"<div><div>Parkinsonism in liver diseases or dysfunction, mainly including neurological manifestations in hereditary liver diseases and neurological complications of advanced liver diseases, occur in isolation or in combination with other movement disorders, and progress along disease course. Prominent akinetic-rigidity syndrome, various onset and progression, poor levodopa<span> response and metabolism abnormalities reflected by serum biomarkers and neuroimaging, make this atypical parkinsonism recognizable and notable in clinical practice. Different susceptibility of brain areas, especially in basal ganglia, to manganese, iron, copper, ammonia overload, together with subsequent oxidative stress, neurotransmitter alterations, disturbed glia-neuron homeostasis and eventually neurotoxicity, contribute to parkinsonism under the circumstances of insufficient liver clearance ability. These mechanisms are interrelated and may interact collectively, adding to the complexity of clinical manifestations and treatment responses. This review summarizes shared clinical features of parkinsonism in liver diseases or dysfunction, depicts their underlying mechanisms and suggests practical flowchart for differential diagnosis.</span></div></div>","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":"163 9","pages":"Pages 461-468"},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141492598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hipertensión arterial pulmonar asociada a lupus eritematoso sistémico: descripción de una serie de casos","authors":"Rossio Gardenia Ortuño Lobo,&nbsp;Marina Garcia Carrasco,&nbsp;Gustavo Medina","doi":"10.1016/j.medcli.2024.05.009","DOIUrl":"10.1016/j.medcli.2024.05.009","url":null,"abstract":"","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":"163 9","pages":"Pages 480-481"},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mielitis por Listeria en adulto inmunocompetente con respuesta favorable a gentamicina intratecal","authors":"Eva González Martínez,&nbsp;Maite Misis del Campo,&nbsp;Fidel Nuñez Marín","doi":"10.1016/j.medcli.2024.05.006","DOIUrl":"10.1016/j.medcli.2024.05.006","url":null,"abstract":"","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":"163 9","pages":"Pages 479-480"},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","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 ,&nbsp;Bin Liu ,&nbsp;Zhou Zhou","doi":"10.1016/j.medcli.2024.05.012","DOIUrl":"10.1016/j.medcli.2024.05.012","url":null,"abstract":"","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":"163 9","pages":"Pages 473-474"},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inappropriate secretion of antidiuretic hormone as an initial clinical manifestation of neurocysticercosis.","authors":"María José Abenza Abildúa, Patricia González-Ruano Pérez, Luis Moreno-Dominguez","doi":"10.1016/j.medcli.2024.08.018","DOIUrl":"https://doi.org/10.1016/j.medcli.2024.08.018","url":null,"abstract":"","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Terapia dirigida por catéter en embolia pulmonar de alto riesgo: análisis de 9 casos","authors":"Sonia Pascual García ,&nbsp;Ana Castell Herrera ,&nbsp;Juan Julian Cuesta Pérez ,&nbsp;Adriana Rodriguez Perojo ,&nbsp;Araceli Abad Fernández ,&nbsp;Maria Teresa Río Ramirez","doi":"10.1016/j.medcli.2024.04.024","DOIUrl":"10.1016/j.medcli.2024.04.024","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":18578,"journal":{"name":"Medicina Clinica","volume":"163 9","pages":"Pages 469-472"},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141498426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hipertiroidismo paraneoplásico secundario a tumor testicular productor de gonadotrofina coriónica","authors":"Fernando Guerrero-Pérez ,&nbsp;María Pérez Prieto ,&nbsp;Nuria Vilarrasa","doi":"10.1016/j.medcli.2024.04.031","DOIUrl":"10.1016/j.medcli.2024.04.031","url":null,"abstract":"","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":"163 9","pages":"Pages 476-477"},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141727424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma calprotectin as a biomarker of inflammatory activity in ulcerative colitis.","authors":"Maria José Temido, Margarida Peixinho, Rosário Cunha, Andrea Silva, Sandra Lopes, Sofia Mendes, Ana Margarida Ferreira, Manuela Ferreira, Pedro Figueiredo, Francisco Portela","doi":"10.1016/j.medcli.2024.09.009","DOIUrl":"https://doi.org/10.1016/j.medcli.2024.09.009","url":null,"abstract":"<p><strong>Background: </strong>An ideal test to evaluate the inflammatory burden in ulcerative colitis is still an unmet need. Fecal calprotectin (FCP) and C-reactive protein (CRP) have significant limitations. Plasma calprotectin (PC) seems to be promising in inflammatory diseases, but its value in IBD is still to be determined. Our aim was to assess whether PC correlates with inflammatory activity in UC.</p><p><strong>Methods: </strong>Prospective single center cohort study. Consecutive patients previously diagnosed with UC undergoing endoscopy were included (June 2021-September 2022). Demographic, clinical, analytical (CRP, PC and FCP), endoscopic and histologic data was collected at the time of colonoscopy. PC was assessed with Gentian Calprotectin Immunoassay and, in a subgroup of patients, also with QUANTA Flash Circulating Calprotectin from INOVA.</p><p><strong>Results: </strong>Inclusion of 98 patients (60.2% male) with a median age 49 (38-61) years. The extent of colitis was distal in 12 (12.2%), left-sided in 49 (50%), and extensive in 37 (37.8%). Mesalazine was taken by 65 (66.3%) patients, with biologic monotherapy used in 24 (24.5%) and combination therapy in 6 (6.1%). Clinical, endoscopic and histological remission were detected, in 56 (57.1%), 48 (49%) and in 55 (56.1%) patients, respectively. Comparing MES 0/1 vs MES 2/3, a statistically significant difference was found with PC, CRP and FCP. Concerning endoscopic (MES=1) and histological (GS<2) remission, FCP was the only biomarker able to detect these outcomes. PC (Gentian) and PCi (INOVA) were highly correlated with CRP.</p><p><strong>Conclusion: </strong>PC has low value in distinguishing patients in remission from patients with endoscopic or histologic activity in UC. This essential role must continue be played by FCP.</p>","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cutaneous myiasis in a pediatric patient: An ultrasound diagnostic approach","authors":"Maria Luísa Santos e Silva Caldeira Marques,&nbsp;Aida Menéndez Parrón,&nbsp;Marta Ivars Lleó","doi":"10.1016/j.medcli.2024.01.050","DOIUrl":"10.1016/j.medcli.2024.01.050","url":null,"abstract":"","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":"163 9","pages":"Page e89"},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain","authors":"Claudia Abadía Molina ,&nbsp;Nuria Goñi Ros ,&nbsp;Ricardo González Tarancón ,&nbsp;Luis Rello Varas ,&nbsp;M. del Valle Recasens Flores ,&nbsp;Silvia Izquierdo Álvarez","doi":"10.1016/j.medcli.2024.05.015","DOIUrl":"10.1016/j.medcli.2024.05.015","url":null,"abstract":"<div><h3>Background</h3><div>The main genetic cause of iron overload is haemochromatosis (HC). In recent years, the study of non-HFE genes (<em>HFE2</em>, <em>HJV</em>, <span><em>HAMP</em></span>, <em>TRF2</em>, <em>SLC40A1</em>, and <span><span>BMP6</span></span>) has become relevant thanks to next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) techniques. Our objectives were to estimate the prevalence of both HFE (C282Y/HY63D variants) and non-HFE variants attending a tertiary hospital in Aragón, to predict the effect of the variants on the protein, and to establish a genotype–phenotype correlation evaluating with the clinical context.</div></div><div><h3>Methods</h3><div>Retrospective descriptive study from 2006 to 2020 of patients attended at genetic consultation in a reference hospital for HC in Aragon. We calculated prevalence of HFE and non-HFE variants. We analysed non-HFE genes (<em>HFE2</em>, <em>HJV</em>, <em>HAMP</em>, <em>TRF2</em>, <em>SLC40A1</em>, and <em>BMP6</em>), used bioinformatics tools, consulted different databases and measured clinical parameters (laboratory and imaging).</div></div><div><h3>Results</h3><div>The prevalence of C282Y homozygous was 5.95% respect the total of cases and 0.025% respect our population. The prevalence of non-HFE HC variants was 1.94% respect the total of cases and 0.008% respect our population. We found 27 variants in non-<em>HFE</em> genes and 4 in <em>HFE</em> gene, of which 6 were classified as variant of uncertain clinical significance (VUS), or likely pathogenic or pathogenic according to the ACMG classification criteria.</div></div><div><h3>Conclusion</h3><div>Our prevalence results are as expected, and similar to those obtained by other studies. Although some of the genetic findings explain the clinical symptoms of some of our patients, we remain have a high number of patients without a clear molecular diagnosis.</div></div>","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":"163 9","pages":"Pages 442-448"},"PeriodicalIF":2.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}