Medicina-buenos Aires最新文献

Spinal epidural abscess (SEA) is a classically monomicrobial infection most commonly caused by Staphylococcus aureus (∼65%), followed by Gram-negative bacilli (∼16%), and less frequently by Gram-positive diplococci such as Streptococcus pneumoniae (∼7%), which typically reach the epidural space hematogenously from another focus, mainly respiratory. SEA can originate from hematogenous seeding or direct inoculation, and in approximately one-third of cases, the source of infection cannot be identified. We present a clinical case of SEA associated with pneumococcal bacteremia. A 65-year-old woman with no relevant medical history presented with a 48-hour history of right-sided lower back pain, rendering her unable to sit or stand, with radiation to the thigh and associated fever. A contrast-enhanced magnetic resonance imaging of the spine revealed 5 and 6 mm collections in the posterior epidural space at the L4 and L5 levels. Blood cultures grew multi-sensitive S. pneumoniae, prompting initiation of antibiotic therapy with good clinical response. The traumatology team assessed the patient and obtained a sample from the larger collection, which also yielded the same pathogen. Isolated pneumococcal spinal infection is a rare but extremely serious condition, with a mortality rate exceeding 20%, and can lead to significant neurological consequences if not managed through a multidisciplinary approach involving broad-spectrum antibiotics and, in some cases, surgical intervention.

Introduction: Chronic kidney disease (CKD) represents a growing health burden, with insufficient epidemiological evidence. The objective was to characterize the spatial distribution of CKD mortality in Argentina by sex, age group, and regions.

Materials and methods: Crude mortality rates (CMR), age-standardized mortality rates (ASMR), and age-specific mortality rates for CKD (ICD-10: N18) were calculated per 100 000 inhabitants for Argentina's 511 departments, grouped by geographic regions and stratified by sex; period 2017-2019. Mortality rates (MR) were represented in choropleth maps at the departmental level. Rates were compared by sex, and regional effects were evaluated by fitting a generalized Poisson regression model. Spatial autocorrelation was assessed using Moran's global index. A ratio between departmental ASMR and the national average was calculated, categorizing departments by percentiles (=P25, P25-average, average-P90, =P90), sex, and total population.

Results: A total of 10 850 CKD deaths were registered in Argentina (54% among males), with CMR and ASMR of 8.4 (95% CI: 7.8-9.1) and 9.2 (95% CI: 8.5-10.0) per 100 000 inhabitants, respectively. At the regional level, significantly different patterns were observed, with higher MR in males and a marked increase in mortality after the age of 60. Mortality rates showed spatial autocorrelation, with high mortality burdens in the northwest and southern regions of the country.

Discussion: Spatial clustering patterns in CKD mortality were identified in Argentina. The findings highlight the need for health policies that integrate sex- and region-specific approaches to reduce the burden of this disease with equity-based criteria.

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.

Introduction: 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.

Materials and methods: 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.

Results: 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.

Discussion: 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.

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.

Introduction: 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.

Materials and methods: 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.

Results: 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.

Discussion: 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.