Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first years of life. To evaluate a potential genotype/phenotype correlation and whether CS and CISS1 represent two allelic diseases or manifestations at different ages of the same disorder, we carried out a detailed clinical analysis of 19 patients carrying mutations in CRLF1. We studied the functional significance of the mutations found in CRLF1, providing evidence that phenotypic severity of the two disorders mainly depends on altered kinetics of secretion of the mutated CRLF1 protein. On the basis of these findings, we believe that the two syndromes, CS and CISS1, represent manifestations of the same disorder, with different degrees of severity. We suggest renaming the two genetic entities CS and CISS1 with the broader term of Sohar-Crisponi syndrome.     

Gender differences in thrombogenicity among patients with angina and non-obstructive coronary artery disease

Journal of Thrombosis and Thrombolysis - Women more often present with angina and non-obstructive coronary artery disease (ANOCA) and have poorer clinical outcomes than men. These findings may be...     

Primary peripheral PNET/Ewing's sarcoma arising in the meninges,confirmed by the presence of the rare translocation t(21;22) (q22;q12)

Peripheral primitive neuroectodermal tumor/Ewing's sarcoma (ES) (pPNET/ES) of intracranial origin are very rare. These tumors are characterized by specific translocations involving a gene on chromosome 22q12, the most common being t(11;22) (q24;q12). We report a case of 37‐year‐old man with pPNET/ES arising in the meninges and bearing the rare translocation t(21;22) (q22;q12). The tumor was composed of sheets and nests of monotonous small cells with round to oval nuclei, finely dispersed chromatin, small nucleolus and scant cytoplasm. We discuss the importance of the differential diagnosis with central primitive neuroectodermal tumors (cPNET).     

Surgically assisted trans-hepatic anterior approach for central venous catheter placement: Safety and efficacy

We describe a child dependent on parenteral nutrition who developed loss of all conventional central venous catheter insertion sites coupled with very unusual collateralization due to extensive thrombosis of both the superior and inferior vena cava, including the azygos vein. We successfully achieved trans-hepatic anterior access to the infra-diaphragmatic vena cava. Since the success rate for this technique is low due to catheter dislodgement, the procedure was surgically assisted for increased safety and efficacy.     

Bismuthene nanosheets produced by ionic liquid assisted grinding exfoliation and their use for oxygen reduction reaction

We report the simple synthesis of bismuthene nanosheets (BiNS) by ionic liquid assisted grinding exfoliation, followed by size selection sequential centrifugation steps for the first time. The exfoliation process results in the formation of self-assembled spherule-like superstructures with abundant edge sites, which are able to catalyze the oxygen reduction reaction (ORR) via a two-electron pathway, with a higher efficiency than the bulk Bismuth. We rationalize the enhanced ORR activity of the BiNS to: (i) the presence of 1 dimensional topological edge states, which provide strong conduction channels for electron hopping between the bismuth layers and (ii) the more active role of edge sites in facilitating O₂ adsorption and dissociation of O–O bonds compared to the basal plane. The present study provides a pathway for employing 2D topological insulators as a new class of electrocatalysts for clean energy applications.

Bismuthene nanosheets were synthesized by ionic liquid assisted grinding exfoliation. Solvent evaporation led to the formation of self-assembled nanospherules. The electron rich edges of the nanosheets enhanced the oxygen reduction reaction.     

Management of Patients after Renal Graft Loss: An Open Question for Nephrologists

Patients undergoing renal graft failure and returning to dialysis are often regarded to like facing for the first time a substitutive treatment, without considering the technical complications, the economical impact, and the psychological implications. This review attempt, to give answers to various questions, concerning the management of vascular access, the immunosuppressive therapy, the transplantectomy, the emotional and neuropsychic aspects, and the quality of life of graft-failed patients.