Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies

Inherited cardiomyopathies are frequent causes of sudden cardiac death (SCD), especially in young patients. Despite at the autopsy they usually have distinctive microscopic and/or macroscopic diagnostic features, their phenotypes may be mild or ambiguous, possibly leading to misdiagnoses or missed diagnoses. In this review, the main differential diagnoses of hypertrophic cardiomyopathy (e.g., athlete’s heart, idiopathic left ventricular hypertrophy), arrhythmogenic cardiomyopathy (e.g., adipositas cordis, myocarditis) and dilated cardiomyopathy (e.g., acquired forms of dilated cardiomyopathy, left ventricular noncompaction) are discussed. Moreover, the diagnostic issues in SCD victims affected by phenotype-negative hypertrophic cardiomyopathy and the relationship between myocardial bridging and hypertrophic cardiomyopathy are analyzed. Finally, the applications/limits of virtopsy and post-mortem genetic testing in this field are discussed, with particular attention to the issues related to the assessment of the significance of the genetic variants.     

Performance of the optically-coupled current-mirror with its input stage cooled to cryogenic temperature

The Optically-Coupled Current-Mirror (OCCM) is a novel feedback circuit architecture that allows linear transmission of analog signals via optical fibers. Its most distinctive feature is that the input stage is galvanically isolated and passive, as it consists just on the back-to-back connection of a LED and a photodiode. Only those components are required to be in close contact with the detector, and no power supply is required to be brought to the input stage. All active components are located at a safe distance, therefore saving them from being exposed to radiation, as it is common in most experiments at particle accelerators. We have investigated the properties of the OCCM when its passive input stage is cooled to cryogenic temperatures. Results have been extremely interesting as, for instance, the sharp increase in open-loop gain observed when cooling to 77 K, due to an enhanced LED efficiency. This translates into a higher dynamic range and still better linearity, opening new opportunities for the transmission of current signals generated in cryogenic detectors.     

Molecular dynamics simulations of polyphosphazenes: poly[bis(chloro)phosphazene][NPCl2] n

Suitable parameter sets for the CHARMm force field were derived for the structural units in polychlorophosphazene [P=N, P N, P Cl] using the Dinur Hagler energy second derivative procedure based on quantum mechanical SCI calculations using the 6–31G^* basis set. To validate the reliability of the parameter set, structural results obtained with CHARMm for the adopted model compounds (OP₂NCl₅ and OP₃N₂Cl₅) were compared with those derived fromab initio quantum mechanics using the 6–31G^* basis set. Application of molecular dynamics (MD) simulations in combinatioin with the available X-ray diffraction data provided structural and conformational information on the polymer. The calculation made using the periodic boundary conditions (PBC) agree well with the polychlorophosphazene ordered in a monoclinic unit cell (a=5.98,b=12.99,c=4.92 A; β=111.7). This model was stabilized mainly by the image atoms contribution to the electrostatic energy term and had aquasi-planar conformation of the backbone chain (glide symmetry). The MD calculations also provided evidence that the difference between single and double PN bonds is less marked than that measured experimentally. This result is, however, in agreement with more recent and accurate X-ray studies on poly(methylphosphazene). Validation of the polymer model provided a complete picture, otherwise experimentally inaccessible, of the internal fluctuations of the polymeric chains.     

Association between inflammatory bowel disease and sarcoidosis. Report of two cases and review of the literature

BACKGROUND: Common etiopathogenic factors may explain the association of systemic sarcoidosis with inflammatory bowel disease. METHODS: We report two cases of such an association: one of sarcoidosis that developed 2 years after proctocolectomy for ulcerative colitis and one of sarcoidosis and Crohn's colitis. Factors like increased cellular immunity or circulating immunocomplexes or autoantibodies may have a role. Exogenous agents or familiarity may also be involved. CONCLUSIONS: It is postulated that the association between sarcoidosis and inflammatory bowel disease (both ulcerative colitis and Crohn's disease) does not occur by chance alone and that the two conditions may share some genetic or immunologic alterations. The two diseases, however, follow an independent clinical course.     

Psychological stress symptoms before and after autologous bone marrow transplantation in patients with solid tumors

This study sought to examine patterns of changes of psychological stress symptoms in autologous bone marrow transplantation (ABMT) recipients. Forty-nine patients affected by solid tumors were assessed using the Symptom Questionnaire on admission to hospital (before high-dose chemotherapy and ABMT) and before discharge. Symptoms of anxiety and anger tended to decrease and relaxation of improve over time. Nevertheless, on admission to hospital 30-50% of the patients reported severe to moderate symptoms of anxiety and depression. Before discharge, the prevalence was still high (20-35%). The implications of these findings are discussed in terms of the need to monitor the evolution of emotional functioning of cancer patients undergoing ABMT.     

Adrenocortical and adrenomedullary homologs in eight species of adult and developing teleosts: morphology, histology, and immunohistochemistry

Morphology, histology, and immunohistochemistry of the adrenocortical and adrenomedullary homologs (adrenal glands) of the following developing and adult teleosts were examined: Salmoniformes-Oncorhynchus mykiss (rainbow trout), Salmo trutta fario (brown trout), Coregonus lavaretus (white fish); Cyprinodontiformes-Gambusia affinis (mosquito fish). Perciformes-Dicentrarchus labrax (sea bass), Sparus aurata (sea bream), Diplodus sargus (white bream), Oblada melanura (saddled bream). The anatomical relationships of the gland with the renal system and venous vessels were also noted. In adults of all species steroidogenic and catecholaminergic chromaffin cells were found in the head kidney, which is pronephric in origin and subsequently transformed into a hematopoietic lymphatic organ. In Perciformes, chromaffin cells are distributed around the anterior and posterior cardinal veins and ducts of Cuvier; in Salmoniformes, around the posterior cardinal veins and in the hematopoietic tissue; and in G. affinis, around the ducts of Cuvier and posterior cardinal veins, while a few are visible also around the sinus venosus. In Perciformes and Salmoniformes, numerous chromaffin cells are also present in the posterior kidney, derived from the opisthonephros, in contact with the caudal vein. Steroidogenic cells are always confined to the head kidney. During development chromaffin and steroidogenic cells appear early after hatching in the pronephric kidney, at the level of the ducts of Cuvier and of the cephalic part of the posterior cardinal veins. Later, chromaffin cells in Perciformes reach the anterior cardinal veins, and subsequently, in both Perciformes and Salmoniformes, they reach the developing posterior kidney. Their localization along the posterior kidney is still in progress about 4 months after hatching and is completed about a year after hatching. These findings support the concept that the structure of the adrenal gland in teleosts is intermediate between that of the other actinopterygians and that of tetrapods. The development differs from that of tetrapods in that it occurs mainly in the pronephros and only later do chromaffin cells reach the opisthonephric kidney.     

N-phenyl piprazine-polyester derivative as curing activator of unsaturated resins

An oligomeric compound (Pol-2A) has been synthesized by a Michael-type addition of N-phenyl piperazine to double bonds of the maleic units of a polyester resin. This compound was used as activator (with benzoyl peroxide) in the curing of unsaturated polyester resins and compared in its efficiency with N,N-dimethylaniline (DMA). Pol-2A showed actiator characteristics comparable to those of DMA, with a wider range of gel times, and similar mechanical properties of the end products, with the advantage of a severe lowering of diffusibility and related environmental toxicity.     

Peripheral O2 diffusion does not affect V(O2)on-kinetics in isolated insitu canine muscle

To test the hypothesis that muscle O2 uptake (V(O2)) on-kinetics is limited, at least in part, by peripheral O2 diffusion, we determined the V(O2) on-kinetics in 1) normoxia (Control); 2) hyperoxic gas breathing (Hyperoxia); and 3) hyperoxia and the administration of a drug (RSR-13, Allos Therapeutics), which right-shifts the Hb-O2 dissociation curve (Hyperoxia+RSR-13). The study was conducted in isolated canine gastrocnemius muscles (n = 5) during transitions from rest to 3 min of electrically stimulated isometric tetanic contractions (200-ms trains, 50 Hz; 1 contraction/2 s; 60-70% peak V(O2)). In all conditions, before and during contractions, muscle was pump perfused with constantly elevated blood flow (Q), at a level measured at steady state during contractions in preliminary trials with spontaneous Q x Adenosine was infused intra-arterially to prevent inordinate pressure increases with the elevated Q x Q was measured continuously, arterial and popliteal venous O2 concentrations were determined at rest and at 5- to 7-s intervals during contractions, and V(O2) was calculated as Q x arteriovenous O2 content difference. PO2 at 50% HbO2 saturation (P50) was calculated. Mean capillary PO2 (Pc(O2)) was estimated by numerical integration. P50 was higher in Hyperoxia+RSR-13 [40 +/- 1 (SE) Torr] than in Control and in Hyperoxia (31 +/- 1 Torr). After 15 s of contractions, Pc(O2) was higher in Hyperoxia (97 +/- 9 Torr) vs. Control (53 +/- 3 Torr) and in Hyperoxia+RSR-13 (197 +/- 39 Torr) vs. Hyperoxia. The time to reach 63% of the difference between baseline and steady-state V(O2) during contractions was 24.7 +/- 2.7 s in Control, 26.3 +/- 0.8 s in Hyperoxia, and 24.7 +/- 1.1 s in Hyperoxia+RSR-13 (not significant). Enhancement of peripheral O2 diffusion (obtained by increased PcO2 at constant O2 delivery) during the rest-to-contraction (60-70% of peak V(O2)) transition did not affect muscle V(O2) on- kinetics.     

Sentic Computing for social media marketing

In a world in which millions of people express their opinions about commercial products in blogs, wikis, fora, chats and social networks, the distillation of knowledge from this huge amount of unstructured information can be a key factor for marketers who want to create an image or identity in the minds of their customers for their product, brand or organization. Opinion mining for product positioning, in fact, is getting a more and more popular research field but the extraction of useful information from social media is not a simple task. In this work we merge AI and Semantic Web techniques to extract, encode and represent this unstructured information. In particular, we use Sentic Computing, a multi-disciplinary approach to opinion mining and sentiment analysis, to semantically and affectively analyze text and encode results in a semantic aware format according to different web ontologies. Eventually we represent this information as an interconnected knowledge base which is browsable through a multi-faceted classification website.     

Stannate and permanganate conversion coatings on AZ31 magnesium alloy

The formation of stannate and permanganate–phosphate conversion coatings on AZ31 magnesium alloy was investigated in situ by EIS measurements and their protective performances were studied by different electrochemical techniques in diluted (0.05 M) sodium sulphate solution.The influence that short or long treatment times exert on the performances of such conversion coatings is discussed. While permanganate–phosphate baths always built layers characterized by penetrating cracks, long stannate baths produced layers without interconnected porosity, but were defective. This accounted for the initial greater protectiveness achieved with the stannate treatment; nevertheless, the easy penetration of the electrolytic solution through such a layer quickly decreased its corrosion resistance.