Gallbladder Agenesis and Cystic Duct Absence in an Adult Patient Diagnosed by Magnetic Resonance Cholangiography: Report of a Case and Review of the Literature

Gallbladder agenesis (GA) is a rare congenital anomaly of the biliary system often associated with other congenital abnormalities. Patients become symptomatic in 23% of cases. GA is often misinterpreted as other diseases, therefore, leading to unnecessary surgery. We report a case of congenital GA associated to cystic duct absence and a biliary tract abnormality diagnosed by Magnetic Resonance with Cholangiopancreatography

Morphological and Structural Evaluation of Hydration/Dehydration Stages of MgSO4 Filled Composite Silicone Foam for Thermal Energy Storage Applications

Salt hydrates, such as MgSO4·7H2O, are considered attractive materials for thermal energy storage, thanks to their high theoretical storage density. However, pure salt hydrates present some challenges in real application due to agglomeration, corrosion and swelling problems during hydration/dehydration cycles. In order to overcome these limitations, a composite material based on silicone vapor-permeable foam filled with the salt hydrate is here presented. For its characterization, a real-time in situ environmental scanning electron microscopy (ESEM) investigation was carried out in controlled temperature and humidity conditions. The specific set-up was proposed as an innovative method in order to evaluate the morphological evolution of the composite material during the hydrating and dehydrating stages of the salt. The results evidenced an effective micro-thermal stability of the material. Furthermore, dehydration thermogravimetric/differential scanning calorimetric (TG/DSC) analysis confirmed the improved reactivity of the realized composite foam compared to pure MgSO4·7H2O.This work was partially funded by the Ministerio de Ciencia, Innovación y Universidades de España (RTI2018-093849-B-C31). This work was partially supported by ICREA under the ICREA Academia program

Transport Processes in Porous Media by Self-Potential Method

A controlled diffusion/infiltration column experimental activity was carried out with the aim of monitoring the leakage of a salty water plume by time-lapse self-potential (SP) measurements. In particular, three tracer tests with different NaCl concentrations (6.00, 1.00, and 0.25 g L−1) were performed and all the measured SP signals showed a sharp reduction corresponding to the arrival of saline front with negative electrical potential values (−78.99±3.24 mV, −54.52±2.28 mV, and −24.12±1.21 mV) which decrease with increasing volume of tracer introduced into the column. Then, measured self-potential values were converted into salt concentration ones by the Planck-Henderson equation and sand diffusion (D) and longitudinal dispersivity (αL) values were estimated by modelling the transport equations in the COMSOL Multiphysics environment. Finally, the results show that measured and estimated NaCl concentrations are well correlated

A novel pathogenic BRCA1 splicing variant produces partial intron retention in the mature messenger RNA

About 10% of all breast cancers arise from hereditary mutations that increase the risk of breast and ovarian cancers; and about 25% of these are associated with the BRCA1 or BRCA2 genes. The identification of BRCA1/BRCA2 mutations can enable physicians to better tailor the clinical management of patients; and to initiate preventive measures in healthy carriers. The pathophysiological significance of newly identified variants poses challenges for genetic counseling. We characterized a new BRCA1 variant discovered in a breast cancer patient during BRCA1/2 screening by next-generation sequencing. Bioinformatic predictions; indicating that the variant is probably pathogenetic; were verified using retro-transcription of the patient's RNA followed by PCR amplifications performed on the resulting cDNA. The variant causes the loss of a canonic donor splice site at position +2 in BRCA1 intron 21; and consequently the partial retention of 156 bp of intron 21 in the patient's transcript; which demonstrates that this novel BRCA1 mutation plays a pathogenetic role in breast cancer. These findings enabled us to initiate appropriate counseling and to tailor the clinical management of this family. Lastly; these data reinforce the importance of studying the effects of sequence variants at the RNA level to verify their potential role in disease onset