Medicina-buenos Aires最新文献

Introduction: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gastroenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phenotype and genotype of Argentinian patients with MEN1.

Methods: A total of 68 index patients diagnosed with at least two of the three main tumors or one tumor and a relative with MEN1, and 84 first-degree relatives were studied. We sequenced the coding region (exons 2-10); the promoter, exon 1; and the flanking intronic regions of the MEN1 gene, following the Sanger method. We used MLPA in index patients without mutation.

Results: Prevalence of tumors: HPT 87.5%, GEPT 49% (p< 0.001). No statistical differences in the prevalence of HPT vs. PT (68%). Prevalence of pathogenic variants: 90% in familial cases and 51% in sporadic cases. Of the different 36 pathogenic variants, 13 (36.2%) were frameshift micro-rearrangement, 8 (22.2%) were missense, 9 (25%) were nonsense, 3 (8.3%) were mutations in splicing sites, 2 (5.5%) were large deletions and, 1 in-frame micro-rearrangement. We found 7 novel pathogenic variants. Thirty-nine percent (n = 33) of first-degree relatives of 23 families were found to be mutation carriers.

Conclusion: The phenotype and genotype of Argentinian patients was similar to other MEN1 populations. A high frequency of PT and the identification of seven novel mutations are underscored.

Introduction: Currently the patient is defined as an older adult (OA) when the age is at least 60 years. Given the long life expectancy, it is interesting to evaluate whether all OAs with acute myocardial infarction (AMI) are equal. The objectives were to know the prevalence of OA in AMI and within them, that of those ≥75 years of age and to analyze characteristics, reperfusion treatments and in-hospital mortality according to whether they are < or ≥ 75 years of age.

Methods: OA patients admitted to the National Registry of Infarction with ST segment elevation (ARGENIAM-ST) were analyzed. They were divided into group 1: 60-74 years old and group 2: ≥ 75 years old and compared with each other.

Results: 3626 AM, 75.9% from Group 1, the rest from Group 2. In group 2 there were more women, hypertensive and with a history of coronary arteries. There was a similar percentage of diabetes and dyslipidemia, but fewer of smokers. In Group 2, less reperfusion treatment was used (although more primary angioplasty), with similar door-to-balloon time. Patients in Group 2 received fewer medications of proven efficacy and in the hospital course, they had more bleeding (although not major), more heart failure and more mortality: 18.3% vs. 9.4%, p<0.001. Age ≥75 years was an independent predictor of mortality.

Conclusions: one in four patients with AMI is over 75 years old; they receive less reperfusion, have more heart failure, bleeding and twice the mortality rate than patients between 60 and 74 years.

Listeria monocytogenes is a Gram-positive aerobic bacterium; found ubiquitously in nature; which mainly affects newborns, older adults, immunosuppressed patients and pregnant women. However, Listeria disease can occur in the healthy population. Invasive listeriosis has three dominant clinical forms, bacteremia, neurolisteriosis and maternal-neonatal infection. Localized forms are infrequently described. The disease occurs mainly secondary to the consumption of contaminated food, including unpasteurized milk or cheese, and occurs in the form of isolated cases or outbreaks, usually beginning a few days after consumption of the contaminated food; although it has been described up to 2 months after ingesting them. There is also the possibility of direct transmission from animals and vertical transmission. Systemic listeriosis without dominant neurological symptoms is a rare event. Two cases are presented. The first was spondylodiscitis in a normal host and the second was Listeria bacteremia in a febrile immunocompromised patient.

The "acute undifferentiated febrile illness" (AUFI) encompasses a range of diseases characterized by the presence of fever, often prompting consultations in emergency services. During epidemics like COVID-19 or dengue, a surge in consultations occurs, resulting in long wait times for patients. Errors in first diagnosis can result in severe consequences. The objective is to provide a comprehensive review of the clinical approach to AUFI, focusing on certain viral infections (dengue, zika, Argentine hemorrhagic fever and COVID-19). This involves a detailed examination of the clinical presentation, laboratory and radiological findings, neurological manifestations, and definitive diagnosis through specific serological tests. AUFI is characterized by the onset of acute fever lasting less than seven days, accompanied by myalgia or headache without involvement of the upper respiratory tract and without a defined cause. Most cases are caused by common, self-limiting viral infections (e.g., influenza); however, they may also stem from more serious viral infections with a broad etiological spectrum. The differential diagnosis of acute febrile syndromes includes various infectious diseases, such as those previously mentioned. The definitive diagnosis is based on serological methods, PCR and IgM. Recommendations based on scientific evidence can help with early diagnosis and prevent possible serious complications.

Pulmonary pneumocytoma, formerly known as sclerosing hemangioma, is a rare, benign tumor that frequently affects women in the 4th and 5th decades of life. Here we present the case of a 17-year-old patient with a diagnosis of sclerosing pneumocytoma with infrequent presentation.

We present the case of a 35-year-old male patient, sandblaster for eight years, recently diagnosed with pulmonary tuberculosis and systemic sclerosis, who was admitted with dyspnea and poor general condition. Chest X-ray showed a grade I pneumothorax, and on the chest tomography he presented confluent hyperdense masses associated with a pattern of non- specific interstitial pneumonia (NSIP), findings compatible with complicated silicosis. Due to the advanced clinical stage, neither invasive diagnostic test nor pulmonary function test could be performed. Initial treatment included placement of a pleural drainage tube, antituberculosis treatment and chronic home oxygen. The patient was referred to the interstitial disease and rheumatology departments for multidisciplinary management, although the infectious condition contraindicated the possibility of immunosuppressive treatment. The patient eventually died under palliative care. Silica inhalation is the cause of silicosis, but it is also implicated in the development of systemic sclerosis (Erasmus syndrome) and although they share a common risk factor, it is rare to find both diseases coexisting. We present the case of a young patient in whom both diseases presented aggressively, with the aim of highlighting the importance of actively searching for expositional diseases and associated conditions.