Elevación del lactato en el postoperatorio como marcador de isquemia mesentérica aguda. Descripción de dos casos

Serum lactate is a non-specific marker of tissue hypoperfusion. Elevated serum lactate is used in the differential diagnosis of acute intestinal ischemia. Although this practice is controversial, in the absence of other validated markers lactate is still used because of its high sensitivity.We present the cases of two patients who developed acute mesenteric ischemia as a post-surgical complication. The patients reported moderate abdominal pain —a non-specific symptom in the postoperative context— and tests showed progressively increasing serum lactate levels, which facilitated suspicion and subsequent diagnostic confirmation through an imaging test.These cases highlight the physiopathological importance of lactate elevation in the perioperative context and of performing a differential diagnosis of its possible causes, including mesenteric ischemia. Although the outcome was negative in the first case, early suspicion allowed us to make an effective diagnosis and administer appropriate treatment in the second patient.     

Reticencia vacunal: análisis del discurso de madres y padres con rechazo total o parcial a las vacunas

Objective

To analyse and understand vaccination hesitancy discourses, particularly those of people who have decided not to vaccinate their sons and daughters.

Syringocystadenocarcinoma papilliferum associated with atypical stroma: A hitherto undocumented variant of sarcomatoid carcinoma

Carcinosarcomas are biphasic tumors composed of admixed malignant epithelial and mesenchymal components. Numerous terms have been used to name such neoplasms; therefore, terminological confusion is frequent. Most examples of carcinosarcomas are encountered in non‐cutaneous sites, with approximately 100 cases of cutaneous carcinosarcomas reported so far in the English literature. Although different theories have been suggested to explain the occurrence of these peculiar neoplasms, histogenetic mechanisms should be better hypothesized depending on each individual case. Even though prognosis tends to be related to the specific components of the lesion, especially the epithelial one, it seems that cases of cutaneous localization usually have a better outcome. We report an exceedingly rare case of syringocystadenocarcinoma papilliferum which showed an atypical stroma with sarcomatoid appearance, and highlight that the terminology used for this spectrum of lesions is disorganized and confusing.     

Loss of function,missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes.