Lupus anticoagulant, anticardiolipin antibodies and hepatitis C virus infection in thalassaemia

Anticardiolipin antibodies (ACA) and lupus anticoagulant (LA) have been detected in patients with hepatitis C virus (HCV) infection and have been associated in autoimmune diseases (i.e. systemic lupus erythematosus) with an increased risk of thromboembolic events. Because of the high prevalence of HCV infection and the thrombotic risk described in thalassaemia we decided to investigate the prevalence of ACA and LA in a cohort of 68 thalassaemia patients. We found a high prevalence (34%) of beta2-glycoprotein I independent ACA in our thalassaemia patients which was related to HCV infection. None of patients developed any complications related to antiphospholipid antibodies (APL); therefore the clinical significance of positivity for APL in patients with HCV infection is at present unclear. In conclusion, the results of our study indicate that ACA in the serum of HCV-infected thalassaemic patients exhibit the characteristics of natural autoantibodies rather than those of the pathogenic autoantibodies that are found in patients with systemic lupus erythematosus.     

Deadlock Avoidance in Store-and-Forward Networks--II: Other Deadlock Types

This paper describes the construction of loop-free buffer graphs which avoid four types of buffer deadlocks in store-and-forward networks. 1) Progeny deadlock, where original messages spawnother ones, and buffer contention occurs between the original and progeny messages. This occurs when positive or negative acknowledgments are created, e.g., if messages reverse direction after encountering a path failure. 2) Copy-release deadlock, where a message copy is stored at the source node and the buffer is not released until an acknowledgment is received from the destination node. Buffer contention may arise among the original messages, stored copies, and acknowledgments. 3) Pacing deadlock, where a local flow control protocol is used between a network node and attached terminals. Buffer contention may arise between the message flows into and out of the terminal, preventing the transmission of go-ahead commands. 4) Reassembly deadlock, whereby reassembly of packetized messages at the destination node cannot be completed. The solution presented here has the novel features of not requiring preallocation of reassembly buffers before transmission of multiple packets of a multipacket message, and not requiring dedication of buffer space at intermediate nodes for individual messages. These schemes are believed to have modest buffer requirements at each node, and if adequate buffer pools are provided, will incur negligible performance degradations under normal conditions, with overhead increasing under heavy buffer usage when deadlock is near.     

Design and control of an IPMC wormlike robot.

This paper presents an innovative wormlike robot controlled by cellular neural networks (CNNs) and made of an ionic polymer-metal composite (IPMC) self-actuated skeleton. The IPMC actuators, from which it is made of, are new materials that behave similarly to biological muscles. The idea that inspired the work is the possibility of using IPMCs to design autonomous moving structures. CNNs have already demonstrated their powerfulness as new structures for bio-inspired locomotion generation and control. The control scheme for the proposed IPMC moving structure is based on CNNs. The wormlike robot is totally made of IPMCs, and each actuator has to carry its own weight. All the actuators are connected together without using any other additional part, thereby constituting the robot structure itself. Worm locomotion is performed by bending the actuators sequentially from "tail" to "head," imitating the traveling wave observed in real-world undulatory locomotion. The activation signals are generated by a CNN. In the authors' opinion, the proposed strategy represents a promising solution in the field of autonomous and light structures that are capable of reconfiguring and moving in line with spatial-temporal dynamics generated by CNNs.     

Surface properties of phenolic compounds and their influence on the dispersion degree and oxidative stability of olive oil O/W emulsions

The surface and interfacial properties of gallic acid, catechin and quercetin, and their effect on the dispersion degree and the oxidative stability of olive oil oil-in-water (O/W) emulsions prepared using β-lactoglobulin and Tween 20 were studied.Gallic acid showed no effect on the surface properties while catechin was proven to be able to accumulate at the air/water interface, decreasing the surface tension values with increasing its concentration. All the phenolic antioxidants caused a decrease in the interfacial tension at the oil/water interface, even though only catechin and quercetin showed a concentration dependent behaviour.In emulsions, gallic acid did not affect the droplet size of the systems, catechin caused the formation of oil droplets bigger than those of the control, whilst quercetin improved the dispersion state of the emulsions with the increasing of its concentration. Gallic acid, despite its partitioning in the water phase due to its polarity, delayed the formation of both the hydroperoxides and TBARs and limited their accumulation. Catechin did not affect the formation of oxidation products whilst quercetin, among the tested antioxidants, caused the lowest formation of both hydroperoxides and TBARs through 33 days of storage.     

The use of EEG modifications due to motor imagery for brain-computer interfaces

The opening of a communication channel between brain and computer [brain-computer interface (BCI)] is possible by using changes in electroencephalogram (EEG) power spectra related to the imagination of movements. In this paper, we present results obtained by recording EEG during an upper limb motor imagery task in a total of 18 subjects by using low-resolution surface Laplacian, different linear and quadratic classifiers, as well as a variable number of scalp electrodes, from 2 to 26. The results (variable correct classification rate of mental imagery between 75% and 95%) suggest that it is possible to recognize quite reliably ongoing mental movement imagery for BCI applications.     

Post Zygotic,Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer,Producing a Monolateral Palmar Epidermolytic Nevus

Palmoplantar keratodermas (PPKs) are characterized by thickness of stratum corneum and epidermal hyperkeratosis localized in palms and soles. PPKs can be epidermolytic (EPPK) or non epidermolytic (NEPPK). Specific mutations of keratin 16 (K16) and keratin 1 (K1) have been associated to EPPK, and NEPPK. Cases of mosaicism in PPKs due to somatic keratin mutations have also been described in scientific literature. We evaluated a patient presenting hyperkeratosis localized monolaterally in the right palmar area, characterized by linear yellowish hyperkeratotic lesions following the Blaschko lines. No other relatives of the patient showed any dermatological disease. Light and confocal histological analysis confirmed the presence of epidermolityic hyperkeratosis. Genetic analysis performed demonstrates the heterozygous deletion {"type":"entrez-nucleotide","attrs":{"text":"NM_006121.4","term_id":"1519311739"}}NM_006121.4:r.274_472del for a total of 198 nucleotides, in KRT1 cDNA obtained by a palmar lesional skin biopsy, corresponding to the protein mutation {"type":"entrez-protein","attrs":{"text":"NP_006112.3","term_id":"119395750"}}NP_006112.3:p.Gly71_Gly137del. DNA extracted from peripheral blood lymphocytes did not display the presence of the mutation. These results suggest a somatic mutation causing an alteration in K1 N-terminal variable domain (V1). The deleted sequence involves the ISIS subdomain, containing a lysine residue already described as fundamental for epidermal transglutaminases in the crosslinking of IF cytoskeleton. Moreover, a computational analysis of the wild-type and V1-mutated K1/K10 keratin dimers, suggests an unusual interaction between these keratin filaments. The mutation taster in silico analysis also returned a high probability for a deleterious mutation. These data demonstrate once again the importance of the head domain (V1) of K1 in the formation of a functional keratinocyte cytoskeleton. Moreover, this is a further demonstration of the presence of somatic mutations arising in later stages of the embryogenesis, generating a mosaic phenotype.     

Pharmacogenetics Informed Decision Making in Adolescent Psychiatric Treatment: A Clinical Case Report

Advances made in genetic testing and tools applied to pharmacogenetics are increasingly being used to inform clinicians in fields such as oncology, hematology, diabetes (endocrinology), cardiology and expanding into psychiatry by examining the influences of genetics on drug efficacy and metabolism. We present a clinical case example of an adolescent male with anxiety, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder who did not tolerate numerous medications and dosages over several years in attempts to manage his symptoms. Pharmacogenetics testing was performed and DNA results on this individual elucidated the potential pitfalls in medication use because of specific pharmacodynamic and pharmacokinetic differences specifically involving polymorphisms of genes in the cytochrome p450 enzyme system. Future studies and reports are needed to further illustrate and determine the type of individualized medicine approach required to treat individuals based on their specific gene patterns. Growing evidence supports this biological approach for standard of care in psychiatry.     

High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders

Recently, autism-related research has focused on the identification of various genes and disturbed pathways causing the genetically heterogeneous group of autism spectrum disorders (ASD). The list of autism-related genes has significantly increased due to better awareness with advances in genetic technology and expanding searchable genomic databases. We compiled a master list of known and clinically relevant autism spectrum disorder genes identified with supporting evidence from peer-reviewed medical literature sources by searching key words related to autism and genetics and from authoritative autism-related public access websites, such as the Simons Foundation Autism Research Institute autism genomic database dedicated to gene discovery and characterization. Our list consists of 792 genes arranged in alphabetical order in tabular form with gene symbols placed on high-resolution human chromosome ideograms, thereby enabling clinical and laboratory geneticists and genetic counsellors to access convenient visual images of the location and distribution of ASD genes. Meaningful correlations of the observed phenotype in patients with suspected/confirmed ASD gene(s) at the chromosome region or breakpoint band site can be made to inform diagnosis and gene-based personalized care and provide genetic counselling for families.     

Interactive Multi‐objective Dynamic Optimization of Bioreactors under Parametric Uncertainty

Model‐based optimization techniques play a key role in achieving a sustainable operation of biochemical processes. Models are an approximation of the real process under study, hence, uncertainty is inherently present and for a sustainable process operation this uncertainty should be accounted for. In practice, optimality with respect to different conflicting objectives is required and multi‐objective optimization is a valuable tool. In this article the sigma point approach is applied to account for parametric uncertainty in the frame of interactive multi‐objective bioprocess optimization.     

Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients

Background: Pathological complete response (pCR) to neoadjuvant chemoradiotherapy (CRT) in locally advanced rectal cancer (LARC) is still ascribed to a minority of patients. A pathway based-approach could highlight the predictive role of germline single nucleotide polymorphisms (SNPs). The primary aim of this study was to define new predictive biomarkers considering treatment specificities. Secondary aim was to determine new potential predictive biomarkers independent from radiotherapy (RT) dosage and cotreatment with oxaliplatin. Methods: Thirty germ-line SNPs in twenty-one genes were selected according to a pathway-based approach. Genetic analyses were performed on 280 LARC patients who underwent fluoropyrimidine-based CRT. The potential predictive role of these SNPs in determining pathological tumor response was tested in Group 1 (94 patients undergoing also oxaliplatin), Group 2 (73 patients treated with high RT dosage), Group 3 (113 patients treated with standard RT dosage), and in the pooled population (280 patients). Results: Nine new predictive biomarkers were identified in the three groups. The most promising one was rs3136228-MSH6 (p = 0.004) arising from Group 3. In the pooled population, rs1801133-MTHFR showed only a trend (p = 0.073). Conclusion: This exploratory study highlighted new potential predictive biomarkers of neoadjuvant CRT and underlined the importance to strictly define treatment peculiarities in pharmacogenetic analyses.