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[Lesch-Nyhan syndrome in dizygotic twins].
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Rocío V García, Norma Specola, Paula Ivarola, Roberto Caraballo
{"title":"[Lesch-Nyhan syndrome in dizygotic twins].","authors":"Rocío V García, Norma Specola, Paula Ivarola, Roberto Caraballo","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Lesch-Nyhan syndrome is an inborn error of purine metabolism caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase, with X-linked inheritance. At present, there are a few cases available in the international literature of twins with this condition. The object of this publication is to report the case of two twins with Lesch-Nyhan syndrome and to describe the clinical and therapeutic management. We present two dizygotic 10-year-old twins, with global developmental delay and nephrolithiasis, who developed dystonia and self-mutilation. The diagnosis was suspected due to the developmental delay associated with dystonia and hyperuricemia in two male patients, as in most of these patients. It was confirmed with the measurement of enzymatic activity, being undetectable. They required multiple therapeutic schemes, including extraction of teeth and restraint measures to avoid major injuries.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"445-448"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803197","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}
引用次数: 0
[Malaria and paludism: a necessary clarification].
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Mario O Melcon, Celeste Garcías
{"title":"[Malaria and paludism: a necessary clarification].","authors":"Mario O Melcon, Celeste Garcías","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"482"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803200","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}
引用次数: 0
[Mechanisms of tricuspid insufficiency in the follow-up of patients post orthotopic heart transplantation].
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Pilar Domenech, Estefanía Mestrallet, Ricardo Posatini, César Belziti, Rodolfo Pizarro
{"title":"[Mechanisms of tricuspid insufficiency in the follow-up of patients post orthotopic heart transplantation].","authors":"Pilar Domenech, Estefanía Mestrallet, Ricardo Posatini, César Belziti, Rodolfo Pizarro","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Tricuspid regurgitation (TR) is the most frequent valvulopathy after cardiac transplantation, with an incidence ranging from 19% to 84%. Severity increases with follow-up. The objectives were to describe the mechanisms involved in the development of post-transplantation TR.</p><p><strong>Materials and methods: </strong>Single-center, retrospective cohort study including patients who received orthotopic heart transplantation between 2012 and 2022. Echocardiograms were performed at 6, 12 and 18 months' post-transplantation. The mechanisms of tricuspid regurgitation described were atrial dilatation or bi-atrial technique, multiple endomyocardial biopsies, right ventricular dilatation and dysfunction, previous pulmonary hypertension and mismatch of the recipient cavity with the transplanted organ.</p><p><strong>Results: </strong>A total of 234 patients were included. The incidence of significant tricuspid regurgitation from 6 months post-transplantation was 12.8%. Right ventricular dilatation and dysfunction was the most prevalent mechanism in 67%, mismatch 17%, organic valve lesion and previous pulmonary hypertension 7% and atrial dilatation 3%. The 40% of patients who had right ventricular dysfunction also presented left ventricular dysfunction.</p><p><strong>Discussion: </strong>The incidence of tricuspid regurgitation in heart transplant patients was 12.8% during the follow-up. The main mechanism observed was the right ventricular dilatation and dysfunction.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"331-336"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803431","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}
引用次数: 0
[Acromegaly as a differential diagnosis of hyperphosphatemia].
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Mariela Varsavsky, Mariela Glerean, Mirena Buttazzoni
{"title":"[Acromegaly as a differential diagnosis of hyperphosphatemia].","authors":"Mariela Varsavsky, Mariela Glerean, Mirena Buttazzoni","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Acromegaly is characterized by hypersecretion of growth hormone (GH) caused by a pituitary adenoma in 99% of cases. Increased serum phosphate is a rare finding in this pathology. This hyperphosphatemia results from increased phosphate reabsorption in the proximal renal tubule via sodium-phosphate cotransporter type IIa: an effect mediated by insulin-like factor 1 (IGF-1) consequent to excess GH. We present the clinical case of a 66-year-old woman with persistent hyperphosphatemia 4.8 ng/dl (VN: 2.5-4.5) with elevated tubular phosphorus reabsorption (TPR) 95% (VN: 85-94) with subtle features of acromegaly. Acromegaly was diagnosed by IGF1 measurements and oral glucose tolerance test with GH measurement (OGTT/GH). In search of the source of GH hypersecretion, a pituitary MRI was requested, and the pituitary microadenoma was evident only in the third year of follow-up. Achieving remission of the disease (IGF-1 in normal range) after transsphenoidal endoscopic surgery and observing normalization of previous hyperphosphatemia. No evidence of recurrence was found in the 18 years of follow-up. In cases of hyperphosphatemia to review the signs and symptoms of acromegaly to diagnose and treat in early stages, when the probability of remission is high.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"434-438"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803648","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}
引用次数: 0
Fabry disease in Argentina: clinical, biochemical and molecular correlation in all reported GLA variants.
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Juan Politei, Romina Ceci, Domingo Procopio, Lucas Silvestroff, Rita Valdez, Paula A Rozenfeld
{"title":"Fabry disease in Argentina: clinical, biochemical and molecular correlation in all reported GLA variants.","authors":"Juan Politei, Romina Ceci, Domingo Procopio, Lucas Silvestroff, Rita Valdez, Paula A Rozenfeld","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Fabry disease is an X-linked trait due to pathogenic variants in the GLA gene, causing deficient GLA enzyme activity, and producing a chronic accumulation of globotriaosylceramide and its derivative globotriaosylsphingosine (LysoGb3) in tissues and fluids. Conflicting or discordant results of interpretation of multiple variants in GLA were reported in literature. The aim of this article is to report the spectrum of GLA variants in Argentine population, as well as the revised interpretation of variants classification. Moreover, we intend to find a possible correlation between biochemical parameters, clinical manifestations and genetic variants of adult male Fabry patients that could be of help for interpretation of variants.</p><p><strong>Materials and methods: </strong>Blood samples from patients with clinical suspicion of Fabry disease were evaluated for specific laboratory tests: alfa-galactosidase A enzyme activity, LysoGb3 and GLA genetic test.</p><p><strong>Results: </strong>There are 44 males with pathogenic GLA variants which showed deficient enzyme activity. Among them, thirty-two presented the classic phenotype (72%) and twelve the late onset clinical features (28%). Mean percentage of enzyme activity was 0.9% for classical patients and 3.2% for later onset ones. LysoGb3 values were increased in all males, with classic patients showing considerable higher values than that of late onset.</p><p><strong>Discussion: </strong>Our results showed that the combined analysis of the clinical picture, leukocyte enzyme activity, globotriaosylsphingosine concentration and a detailed exhaustive study of the genetic variant lead to a definite diagnosis in those cases previously interpreted as of unknown significance, together with a revised interpretation of the phenotype.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"322-330"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803734","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}
引用次数: 0
[Congenital tuberculosis: diagnosis based on puerperal febrile syndrome].
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Marianela Garofalo, Ana Fernandez Stepa, Andrés Benchetrit, Roxana Paul, Mario Matteo, Rubén Solari, Julián García
{"title":"[Congenital tuberculosis: diagnosis based on puerperal febrile syndrome].","authors":"Marianela Garofalo, Ana Fernandez Stepa, Andrés Benchetrit, Roxana Paul, Mario Matteo, Rubén Solari, Julián García","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Tuberculosis (TB) in Argentina has been on the rise in recent years, with a higher notification rate in the 15 to 49-year-old age group. Although it is estimated that the incidence of TB in pregnant and postpartum individuals is higher than in the general population, there is insufficient data in our country. Congenital transmission is very rare. We report a case of congenital TB transmission diagnosed through epidemiological criteria and molecular methods. We emphasize the importance of implementing TB screening algorithms in pregnancy, tailored to the populations served and the resources available, and we highlight the contribution of genomic sequencing at clinical and epidemiological levels.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 1","pages":"239-243"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123214","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}
引用次数: 0
[Flu vaccination coverage in the Hospital Italiano de Buenos Aires: Cross-sectional study].
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Marcelina Carretero, María L Posadas Martínez, Miriam Rosenek, Jose Benso, Gustavo G Vidal, Karina E Alvarez, Maria Del Lujan Sanchez, María C Puga, Luis A Di Giuseppe
{"title":"[Flu vaccination coverage in the Hospital Italiano de Buenos Aires: Cross-sectional study].","authors":"Marcelina Carretero, María L Posadas Martínez, Miriam Rosenek, Jose Benso, Gustavo G Vidal, Karina E Alvarez, Maria Del Lujan Sanchez, María C Puga, Luis A Di Giuseppe","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Influenza represents a global public health challenge. Influenza vaccination is crucial for preventing complications. The World Health Organization recommends a coverage rate of at least 75% for the at-risk population. The aim of this study was to evaluate vaccination coverage among members of the Health Plan of the Hospital Italiano de Buenos Aires.</p><p><strong>Materials and methods: </strong>Cross-sectional study nested within a dynamic cohort. All members of the Health Plan during the influenza vaccination campaigns of 2022 and 2023 were included. The influenza vaccination rate was calculated and reported as a percentage with its respective 95% confidence interval (CI95%). Demographic variables and comorbidities were analyzed.</p><p><strong>Results: </strong>The influenza vaccination rate was 12% in 2022 and 10% in 2023. Subjects aged between 6 and 23 months had the highest vaccination rates in both periods, at 43% (CI95% 41-46) in 2022 and 48% (CI95% 45-51) in 2023, followed by the population over 65 years old with a rate of 23% (CI95% 23-24) in 2022 and 18% (CI95% 18-19) in 2023. The most common comorbidities were hypertension and dyslipidemia.</p><p><strong>Discussion: </strong>Influenza vaccination coverage in our population fell below the recommendations of the World Health Organization, highlighting the presence of barriers to influenza immunization.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 1","pages":"8-15"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123220","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}
引用次数: 0
[Update on the treatment of hereditary angioedema in Argentina].
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Blas Larrauri, Alejandro Malbrán, Eloisa Malbrán
{"title":"[Update on the treatment of hereditary angioedema in Argentina].","authors":"Blas Larrauri, Alejandro Malbrán, Eloisa Malbrán","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Hereditary angioedema (HAE) is a rare autosomal dominant disease, characterized by episodes of edema involving the skin, gastrointestinal tract and larynx. HAE has a 15% to 50% historical asphyxia mortality. It is the consequence of C1 inhibitor deficiency. The identification of bradykinin as the principal mediator of the disease has led to the development of new drugs for the treatment of HAE. HAE treatment is agreed in international consensus. A therapeutic guide for the treatment of the disease was published in Medicina (Buenos Aires) in 2012, but new and relevant diagnostic and therapeutic advances have been described subsequently. We here update the pharmacology of new drugs available for the treatment of HAE in Argentina, as well as briefly describe the new forms of the disease.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"376-387"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803518","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}
引用次数: 0
[Coinfection with two dengue serotypes during the 2024 outbreak]. [在 2024 年登革热爆发期间同时感染两种登革热血清型]。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Karen A Poccia, Maria F Rugani, Jacqueline M Galiano
{"title":"[Coinfection with two dengue serotypes during the 2024 outbreak].","authors":"Karen A Poccia, Maria F Rugani, Jacqueline M Galiano","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Dengue is a viral infection that consists of four serotypes and is transmitted by a vector: the Aedes aegypti. mosquito, to humans. The infection can cause clinical presentations ranging from mild to severe. The first report of co-infection with two dengue serotypes in Moreno Municipality is presented. Six cases of DENV-1/DENV-2 co-infection were recorded at Moreno Hospital during epidemiological weeks 1-15 of 2024. During this period, a significant increase in reported dengue cases was observed compared to previous years. The co-infected cases did not show significant clinical differences compared to other patients who experienced the disease with a single serotype. This type of finding keeps us alert to the possibility of new co-infection cases, allowing for a more in-depth characterization of this identified group.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"458-460"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803698","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}
引用次数: 0
Diffusion restriction in the fornix following endovascular treatment of an anterior communicating artery aneurysm. 前交通动脉瘤血管内治疗后的穹窿扩散受限。
IF 0.6 4区 医学
Medicina-buenos Aires Pub Date : 2025-01-01
Santiago A Cutiller, Juan J Cirio, Edwina L L Rodríguez, Jose R Beltran, Vanesa V Goytia, Pedro Lylyk
{"title":"Diffusion restriction in the fornix following endovascular treatment of an anterior communicating artery aneurysm.","authors":"Santiago A Cutiller, Juan J Cirio, Edwina L L Rodríguez, Jose R Beltran, Vanesa V Goytia, Pedro Lylyk","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"469"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803730","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}
引用次数: 0
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