Medicina-buenos Aires最新文献

Introduction: Diastolic function has a dynamic behavior according to modifying factors. We describe the variables used in its assessment by echocardiography in different population groups of men and women to determine whether changes can be predicted according to their risk factors.

Materials and methods: Observational and descriptive cross-sectional registry. A systematic collection of anthropometric characteristics, risk factors and specific echocardiographic variables of diastolic function was performed in an outpatient echocardiography laboratory. Quantitative variables were expressed as mean and standard deviation for Gaussian distribution variables. Discrete variables were analyzed using contingency tables, qualitative variables are expressed as percentages. Means were compared using the Student t test.

Results: A total of 107 patients were admitted. Those with sedentary lifestyle had a mean left atrial volume of 29 ml/m2, a deceleration time of 218 ms, a transmittal flow ratio E/A (EA) of 1.5, tissue Doppler ratio Ee´ (Ee) of 6 and e´a´ (ea) of 1.4; those who performed physical activity 3 times a week were characterized by having a left atrial volume of 35 ml/m2, a deceleration time of 210 ms, EA of 1.8, Ee of 5 and ea of 1.8. Patients with obesity had a left atrial volume of 35 ml/m2, deceleration time of 226 ms, E/A 1.1, Ee of 9 and ea of 1.2. Those with arterial hypertension had a left atrial volume of 33 ml/m2, deceleration time of 224 ms and E/A ratio of 1, Ee of 8 and ea of 1.

Discussion: The inclusion of certain risk factors in the history prior to echocardiographic evaluation can predict subgroups with different diastolic function.

Introduction: 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.

Materials and methods: Design: cross-sectional study.

Data source: electronic medical records.

Population: 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.

Results: 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%).

Discussion: 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.

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".

Klebsiella pneumoniae liver abscess syndrome due to hypermucoviscous strains is defined by the presence of monomicrobial liver abscess, without biliary tree or colorectal disease. These strains may be easily identified in the laboratory by performing a string test. It has the potential to spread to other organs, leading to a high morbimortality. We report two cases of liver abscess due to naturally susceptible Klebsiella pneumoniae, one of them with endogenous endophthalmitis as metastatic involvement that required evisceration.

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.

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.

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.

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.