Malena Chiaborelli, Camila Volij, Karin S Kopitowski, Sergio A Terrasa
{"title":"[Excessive use of vitamin D testing in the private health system].","authors":"Malena Chiaborelli, Camila Volij, Karin S Kopitowski, Sergio A Terrasa","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Given the importance of reducing lowvalue care practices and acknowledging that vitamin D testing in the general population is rising despite the absence of evidence to support such conduct, we decided to investigate its overuse.</p><p><strong>Materials and methods: </strong>Design: cross-sectional study.</p><p><strong>Data source: </strong>electronic medical records.</p><p><strong>Population: </strong>patients aged between 18 and 64 on the Hospital Italiano de Buenos Aires Health Maintenance Organization membership list, to whom at least one test of vitamin D had been performed between July 1st and December 31st 2022. A sample of electronic medical records was manually analyzed. In the presence/suspicion of a clinical condition that counts with recommendation for Vitamin D testing, its indication was considered appropriate; however, in its absence, it was considered inappropriate.</p><p><strong>Results: </strong>A total of 10 095 vitamin D tests were performed on 9623 patients (mean age 47, 78.1% female). These patients were 10% of the 97 584 HMO members aged between 18 and 64 in 2022. A hundred and sixty of the 242 patients whose electronic medical records were analyzed (66%, CI 95% 60 - 72), did not have a clinical condition that justified vitamin D testing. The most frequent clinical conditions found for testing were osteopenia in 37/242 patients (15%); osteoporosis, 13/242 (5%) and chronic kidney disease 11/242 (5%).</p><p><strong>Discussion: </strong>Two-thirds of the vitamin D tests performed did not have a clinical condition that justified the practice. These findings represent an opportunity to design strategies to institutionally reduce this low-value care practice.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 1","pages":"56-63"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123219","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}
Nerina García Rosolen, Silvana P Fili, Mario A Aranda, Diego Fernández, Vanesa Ávalos Gómez, Estefania Rossetti, Carolina Pepe, Silvia Eandi Eberle, Carolina Zuanich
{"title":"[From persistent \"hypoxemia\" to the diagnosis of an hemoglobinopathy].","authors":"Nerina García Rosolen, Silvana P Fili, Mario A Aranda, Diego Fernández, Vanesa Ávalos Gómez, Estefania Rossetti, Carolina Pepe, Silvia Eandi Eberle, Carolina Zuanich","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Low oxygen (O2) affinity hemoglobin (Hb) variants are a group of structural hemoglobinopathies, caused in most cases by point mutations in beta or alpha globin genes. The clinical presentation is widely variable, from asymptomatic patients to those presenting cyanosis and/or low O 2 saturation without signs of chronic hypoxia. Accurate identification of these patients is essential to avoid invasive cardiorespiratory procedures that could be unnecessary. We present the case of a girl in an acute viral illness context, with repeated low peripheral O2 saturation (SpO2) readings without clinical picture of hypoxemia. The differential diagnosis included a low O 2 affinity Hb, suspected by an increased partial pressure of O2 at 50% (p50) and confirmed by molecular biology. We highlight the usefulness of arterial blood gas analysis and the p50 determination in the initial phase of evaluation of an unexplained \"hypoxemia\".</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 1","pages":"221-224"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123221","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}
María Natalia Nachón, Gustavo Bruno, Pascual Valdez, Matías Mirofsky, Andrea Vaucher, Sofía Carozzi, Monserrat Chimeno Viñas, Emilio Casariego, Luis Cámera, Natasha Smiliansky, María Cristina Jimenez, Ricardo Hidalgo, María Florencia Arcondo, Lucio Criado, Robert Díaz, Alejandro Cárdenas, Miguel Blanco, Emilio Buchaca, Helga Codina, Mariflor Vera, Diego Brosio, Ricardo Gómez Huelgas, Luis Rojas, Omar Castillo, Alejandra Gaydou, Alberto Ruiz Cantero, Carlos Nitsch, Alfredo Cabrera Rayo, Marina Curria, Cristhian Armenteros, Agustina Dutto, Hugo Zelechower, Jorge Soto, Yazmin Abuabara, Andrea Odzak, Coral Cristaldo, Sonia Indacochea Cáceda, Bismarck Pérez, Juliana Gomez, Fernando Lipovestky, Karen Cárcamo
{"title":"[Clinical approach to the patient with obesity document by the Argentine Society of Medicine, the Uruguayan Society of Internal Medicine, and the International Forum of Internal Medicine].","authors":"María Natalia Nachón, Gustavo Bruno, Pascual Valdez, Matías Mirofsky, Andrea Vaucher, Sofía Carozzi, Monserrat Chimeno Viñas, Emilio Casariego, Luis Cámera, Natasha Smiliansky, María Cristina Jimenez, Ricardo Hidalgo, María Florencia Arcondo, Lucio Criado, Robert Díaz, Alejandro Cárdenas, Miguel Blanco, Emilio Buchaca, Helga Codina, Mariflor Vera, Diego Brosio, Ricardo Gómez Huelgas, Luis Rojas, Omar Castillo, Alejandra Gaydou, Alberto Ruiz Cantero, Carlos Nitsch, Alfredo Cabrera Rayo, Marina Curria, Cristhian Armenteros, Agustina Dutto, Hugo Zelechower, Jorge Soto, Yazmin Abuabara, Andrea Odzak, Coral Cristaldo, Sonia Indacochea Cáceda, Bismarck Pérez, Juliana Gomez, Fernando Lipovestky, Karen Cárcamo","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Obesity is one of the non-communicable chronic diseases with the highest increase in recent decades in Latin America, affecting children, adolescents, and especially young adults. Forty percent of adults have a body mass index greater than 25 kg/m2. Numerous studies have demonstrated a relationship between obesity and cardiovascular diseases such as hypertension, coronary artery disease, heart failure, cardiac arrhythmias, diabetes, sleep apnea, and oncological diseases, among others. Weight loss in individuals with overweight and obesity has been shown to reduce the risk of developing comorbidities or improve their progression. Healthcare professionals must initiate patient care by considering their values and treatment goals, facilitating reflection, and fostering responsibility to promote long-term improvements. The initial approach, communication, and physician's attitude during the evaluation of a patient with obesity are significant determinants for successful treatment and patient health. The objective of this document is to compile the available information on the disease and present practical and summarized clinical management recommendations based on scientific evidence.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 4 ","pages":"1-38"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813620","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":"[Neonatal epileptics syndromes].","authors":"Graciela Del Pilar Guerrero Ruiz","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share alterations in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"75-80"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349714","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":"[Rare diseases: unraveling the biological bases to find future therapies].","authors":"Mercedes Serrano","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Rare diseases are characterized by low prevalence and high complexity, affecting millions globally. Although technologies like massive sequencing improve diagnose, therapeutic options remain largely symptomatic or palliative, with few curative treatments approved. In the context of rare diseases, especially genetic neurodevelopmental disorders, therapy development faces obstacles such as phenotypic variability, diverse molecular mechanisms, and complexities in assessing neurodevelopment in natural history and clinical trials. Current strategies include drug repositioning, biomarker development, and a multilateral approach in seeking solutions, offering hope. This work reviews various strategies in developing therapies, from gene therapy and epigenetic therapies to identifying biological targets.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"9-14"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349718","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":"[Non-surgical treatment of refractory epilepsy in children].","authors":"Juan Pablo Appendino, Carlos I Salazar","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Approximately 30% of people with epilepsy will be refractory. This manuscript reviews current evidencebased non-surgical treatment modalities for pediatric refractory epilepsy, including pharmacological and dietary strategies.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"63-68"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349715","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}
Alberto Navarro Vergara, Oscar Sans Capdevilla, Gabriel González Rabelino
{"title":"[Sleep in chronic neuropediatric diseases].","authors":"Alberto Navarro Vergara, Oscar Sans Capdevilla, Gabriel González Rabelino","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The prevalence of sleep disorders (SD) is notoriously increased in children with chronic neurological disease, with a negative bidirectional link that aggravates their symptomatology and has a negative impact on the quality of life of the child and their families. Identifying and recognizing this association is key for the child neurologist since the treatment of SD significantly improves daytime symptomatology in neurodevelopmental disorders, epilepsy, primary headaches, cerebral palsy and neuromuscular diseases.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"93-98"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349720","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":"[Autism: associated medical conditions].","authors":"Víctor Ruggieri","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Autism will accompany people throughout life with variations in its evolution and is frequently associated with other neurodevelopmental disorders (intellectual disability, attention deficit hyperactivity disorder, motor clumsiness, language disorder), neuropsychiatric disorders (depression, anxiety, schizophrenia, catatonia), epilepsy, sleep disorders, gastrointestinal disorders. In addition to the disorders typical of autism, we must consider an entire range of conditions, since their identification and adequate treatment will allow a better quality-of-life for people with autism. In 35% of cases, we can identify neurogenetic conditions which will allow us to prevent or identify associated medical entities. In this work we will analyze two groups, in a purely organizational way, medical conditions associated with defined entities (Down, Angelman, Fragile X, Rett, Phelan-McDermid and Timothy syndromes) and those that can be consistently associated in people with autism without an identified entity.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"39-44"},"PeriodicalIF":0.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349706","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}