Medicina
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Germline gain-of-function (GOF) mutation of the signal transducer and activator of transcription 3 (STAT3) gene causes a disease clinically characterized by a significant lymphoproliferation, including lymphadenopathy and/or hepatosplenomegaly, as well as childhood onset autoimmunity. Here we present an adult patient who, during his early years of life, presented recurrent infections, autoimmune hemolytic anemia and benign lymphoproliferative disease, characterized by hepatosplenomegaly and lymphadenopathy, being diagnosed with common variable immunodeficiency (CVID) at 13 years of age. He was diagnosed with lymphocytic interstitial pneumonia at the age of 20. ⋯ Our patient developed severe pulmonary disease and died, without access to treatment targeted to his molecular defect due to the advanced nature of his pulmonary involvement and the fact that many of the therapies were still in development at that time. The diagnosis of STAT3 GOF mutations should be suspected in patients with early-onset of lymphoproliferative disease, autoimmunity and hypogammaglobulinemia. This must be considered especially in the group of CVID patients with these characteristics, in order to allow the implementation of treatments targeting the molecular defect (JAK inhibitors and Il-6 receptor antagonists) that could modify the disease evolution.
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Acute leukemias are the most common neoplasm in pediatric patients. Currently, 80% of children with diagnosis of acute lymphoblastic leukemia (ALL) are cured with conventional chemotherapy, but 20% of them will have a recurrence of the disease. Measurable Residual Disease (MRD) has been described as an important prognostic factor that allows evaluating the response of patients to treatment. ⋯ The combined positive MRD values at day 33 and 78 of treatment allow the identification of high-risk patients in cases previously stratified by MRD using flow cytometry at day 15. The comparison between MRD determination by Ig/TCR rearrangements and FC showed excellent correlation. The present work constitutes a study of MRD by Ig/TCR carried out in a very significant number of patients consecutively diagnosed, treated within a homogeneous protocol and with excellent clinical follow-up.
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Hereditary angioedema (HAE) is a rare disease with an autosomal dominant heredity pattern, due to mutations in the gene encoding the C1 esterase inhibitor. The onset of symptoms usually occurs during childhood. Clinically, it is characterized by repeated episodes of angioedema that may affect the skin, abdomen and larynx/pharynx. ⋯ Despite the high probabilities of being a carrier of the mutation, she had not been previously studied. Diagnosis of HAE in a family member would require screening of all at-risk relatives. Early diagnosis is essential to establish a correct and timely therapeutic strategy in order to reduce the morbidity and mortality associated with the disease.
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Observational Study
[Incidence, clinical characteristic and evolution of Clostridioides difficile infection].
Clostridioides difficile infection (CDi) is one of the foremost hospital-acquired infections. We present an observational study aimed to describe the incidence, epidemiology, and clinical outcome of CDi in a tertiary university hospital in Buenos Aires. The episodes, diagnosed in 117 consecutive adult patients in the period 01/01/2017 to 01/04/2020, were distributed in three groups: 63 (53.9%) were classified as hospital-acquired infections (HA), 25 (21.4%) as community onset-health care-associated infections (CO-HCA) and 29 (24.8%) as community-associated infections (CA). ⋯ Ten recurrences occurred, representing 8.5% of CDI episodes. The 90-day mortality was 19.8%, being significantly higher in HA and CO-HCA infections (p = 0.014). Our findings highlight both the local burden of CDi morbidity and mortality and the need for the implementation of preventive strategies.
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Infective endocarditis (IE) is a disease that in recent decades has shown changes in its presentation, diagnosis and treatment. This is a prospective study of 252 patients admitted at a reference hospital in Buenos Aires, Argentina, with a diagnosis of IE and they were grouped according to the decade of admission: Group A: from January 1988 to December 1997 (89 patients -35.3%-), Group B: from January 1998 to December 2007 (88 patients -34.9%-), and Group C: from January 2008 to December 2018 (75 patients -29.8%). The characteristics were analyzed and compared: age, sex, underlying heart disease, blood cultures and germs, presence of vegetations, surgical treatment and in-hospital mortality. ⋯ The presence of vegetations and febrile syndrome on admission were independent predictor for lower mortality. The comparison over the years showed important changes in the epidemiological profile of IE. Probably due to advances in diagnostic techniques, treatment, and the implementation of interdisciplinary IE teams in the last decade, in-hospital mortality shows a strong tendency to decrease.