Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency

Factor XIII (FXIII) deficiency is a very rare severe autosomal bleeding disorder with a frequency of 1:2,000,000 in the general population and only a few patients have been genetically characterized so far. We report a phenotype-genotype characterization of 10 unrelated Iranian patients. Two FXIII (transglutaminase) activity assays showed no FXIII activity, except a conserved residual activity in patients receiving prophylactic substitution treatment. FXIII antigen concentrations measured by two immunoassays were comparable. Genotype characterization identified four novel mutations (2 missense and 2 small deletions) and two previously reported missense mutations in the FXIII A subunit gene (F13A). Molecular modeling was carried out to reveal the structural consequences of the missense mutations, that caused the replacement of an arginine residue involved in the formation of structurally important extensive hydrogen-bonded network. The replacements [c.320G>A (p.Arg77His) in the beta-sandwich, c.868C>T (p.Arg260Cys), c.869G>A (p.Arg260His) and c.1236G>T (p.Arg382Ser) in the core domain] resulted in the loss or impairment of such H-bonded network. Energy decomposition analysis demonstrated that this situation leads to the instability and perhaps to the incorrect folding of the A subunit, that would explain the development of severe FXIII deficiency.     

Etherification of poly(oxymethylene)-diol [α-hydro-ω-hydroxypoly(oxymethylene)] with orthoesters in the presence of Lewis acids

Attempts were made to elucidate experimentally the behaviour of poly(oxymethylene)-diol [α-hydro-ω-hydroxypoly(oxymethylene)] in the etherification reaction in order to explain the decrease of the polymer molecular weight compared with that of the starting product and in order to determine the type of terminal groups and how the thermal resistance and alkali stability can be affected. In fact one finds that, in addition to the wanted terminal ether groups, formyl and orthoformyl (dialkoxymethyl) groups are formed having a different chemical resistance in comparison to that of the pure ethers, particularly in basic media.     

Role of Cachexia and Fragility in the Patient Candidate for Cardiac Surgery

Frailty is the major expression of accelerated aging and describes a decreased resistance to stressors, and consequently an increased vulnerability to additional diseases in elderly people. The vascular aging related to frail phenotype reflects the high susceptibility for cardiovascular diseases and negative postoperative outcomes after cardiac surgery. Sarcopenia can be considered a biological substrate of physical frailty. Malnutrition and physical inactivity play a key role in the pathogenesis of sarcopenia. We searched on Medline (PubMed) and Scopus for relevant literature published over the last 10 years and analyzed the strong correlation between frailty, sarcopenia and cardiovascular diseases in elderly patient. In our opinion, a right food intake and moderate intensity resistance exercise are mandatory in order to better prepare patients undergoing cardiac operation.     

In Vivo Observation of Cutaneous Larva Migrans by Fluorescence-Advanced Videodermatoscopy

Fluorescence-advanced videodermatoscopy is not a widespread diagnostic technique. Its application in dermatology can facilitate the diagnosis of diseases such as cutaneous larva migrans by enabling us to recognize the precise position of larva in vivo on the skin. Using this noninvasive technique, we detected a case of cutaneous larva migrans in a patient.     

A modified frozen elephant trunk hybrid device to facilitate supra‐aortic trunk anastomosis

Reimplantation of the supra‐aortic vessels can be challenging with Thoraflex Hybrid. A device modification made the vessel lengths more appropriate and the position of the neo‐vessels in the chest avoided malpositioning and kinking and facilitated sternum closure; this may improve operating times as well as allowing complete and continuous cerebral trivascular perfusion and corrects positioning of the intrathoracic vessels.     

Aponeurotic-Cutaneous Tract Exeresis in Patients With Persistent Lymphorrhea After Kidney Transplantation: A Valid Approach in a Day Surgery Setting

BackgroundLymphatic disorders (LDs) are the most common minor complications after kidney transplantation (KT), with an incidence rate between 0.6% and 33.9%, which appears to be related to both surgical and medical factors. LDs mostly resolve spontaneously, but occasionally a surgical approach may be required.Materials and MethodsWe report our experience with 7 KT recipients who developed persistent lymphorrhea (>150 mL/24 h) between October 2017 and March 2019. All cases were treated as outpatients with parietal fistulectomy (PF). The fibrotic aponeurotic-cutaneous tract was thoroughly excised, and the residual aponeurotic defect was closed by watertight suturing. Serial abdominal ultrasounds (US) were carried out after the procedure.ResultsA small perirenal graft lymphocele of <2 cm was detected by US in all patients after 48 to 72 hours, without any evidence of either vascular or ureteral compression. During the subsequent scheduled US follow-up, lymphoceles did not increase in size, and additional interventions were not needed. Neither superficial nor deep surgical-site infections were recorded in such patients.ConclusionsPF was found to be a safe and effective minimally invasive approach for persistent lymphorrhea after KT. It could be easily performed with local anesthesia in a day surgery setting and did not require patient hospitalization.