Presentación atípica del patrón electrocardiográfico de Wellens asociado con lesión de bifurcación coronaria

We present a patient who was admitted to the emergency room due to unstable angina, with an initial electrocardiogram without signs of acute ischemia and a favorable clinical evolution. During hospitalization, she developed the Wellens electrocardiographic pattern, noted in the literature as an infrequent, poorly identified finding and with an ominous prognosis. This electrocardiographic pattern is described in precordial derivatives, suggesting a significant lesion of a principal epicardial artery; our patient had similar electrocardiographic alterations in the high lateral leads, in whom the coronary bifurcation lesion not previously described in this scenario was confirmed.Presentamos el caso de una paciente que ingresó a emergencia por angina inestable, con electrocardiograma inicial sin signos de isquemia aguda y evolución clínica favorable. Durante la hospitalización desarrolló el patrón electrocardiográfico de Wellens, señalado en la literatura como un hallazgo infrecuente, poco identificado y de pronóstico ominoso. Este patrón electrocardiográfico se detalla en derivadas precordiales, sugiriendo una lesión significativa de una arteria epicárdica principal; la paciente tuvo alteraciones electrocardiográficas similares en las derivadas laterales altas, en quien se confirmó el compromiso de bifurcación coronaria no descrita previamente en este escenario

Parotid mycobacteriosis is frequently caused by Mycobacterium tuberculosis in advanced AIDS

BACKGROUND: Tuberculosis is one of the leading infectious diseases in the world, with more than 2 million new cases annually. It is one of the main causes of death of human immunodeficiency virus (HIV)-positive patients, involving multiple organs and particularly the lungs. Nevertheless there are few consistent studies about tuberculosis involving the parotid of HIV patients. The objective of this work was to describe the histological and immunohistochemical characteristics of 10 cases of mycobacteriosis involving the parotid of autopsied patients with advanced acquired immunodeficiency syndrome (AIDS), including identification of the Mycobacterium species. METHODS: Detection of 'M. tuberculosis complex' was performed by polymerase chain reaction (PCR) and ligase chain reaction (LCR) and Mycobacterium avium by PCR. RESULTS: All cases showed involvement of intraparotid lymph nodes, but the glandular parenchyma was affected in only three cases. Most of the cases (80%) presented a chronic non-caseating granulomatous inflammation, and in two cases predominated foamy macrophages, full of bacteria, and no granuloma formation. In areas of mycobacteriosis, macrophages predominated followed by TCD8, B and TCD4 lymphocytes. All cases were infected by Mycobacterium genus and 'M. tuberculosis complex' was detected in five cases by LCR and in eight by PCR, while M. avium was positive in one case only, which was also positive for M. tuberculosis. CONCLUSIONS: Parotid mycobacteriosis in advanced AIDS is characterized by intraparotid lymph node non-caseating inflammatory granulomatous lesion, caused mainly by M. tuberculosis.34740741

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency

Four transacting genes, CHTA, RFXANK, RFX5, and RFXAP, control coordinate MHC II expression. In humans, defects in these genes result in the absence of MHC II expression and thus a combined immunodeficency. CIITA is considered to be a master MHC II regulator and is responsible for the defect in complementation group A. Eight such affected families have been reported. We investigated the molecular basis of the defect in three patients in these families, all presenting a severe immunodeficiency. CIITA transcripts were detected in all three patients but in one at an abnormally low level. Three novel heterozygous mutations of CIITA were found in patients SP and RC. One SP CIITA allele contained a nonsense mutation, G2178A, leading to a premature stop codon and the other allele in SP was found not to be expressed, In patient RC, two in-frame deletions were detected: one of the nucleotides 3003-3084 corresponding to the exon coding from Leu964 to Asp991, in the paternal allele, and a CATdel3193-5 of the isoleucine codon at position 1027, in the maternal allele. Transfection of a CIITA-deficient cell line with the recombinant CATdel3193-5-CIITA cDNA revealed a loss of function for this mutant and retention of the protein in the cytoplasm. No mutations were detected in the 4.5-kb cDNA from patient OK but the level of CIITA transcript was found to be profoundly decreased. However, promoters III and IV were not affected. This last case represents the first described CIITA dysfunction due to putative mutation(s) in cis regulatory sequences of CIITA