Fisher's Discriminant and Relevant Component Analysis for static facial expression classification

This paper addresses the issue of automatic classification of the six universal emotional categories (joy, surprise, fear, anger, disgust, sadness) in the case of static images. Appearance parameters are extracted by an active appearance model(AAM) representing the input for the classification step. We show how Relevant Component Analysis (RCA) in combination with Fisher's Linear Discriminant (FLD) provides a good "plug-\&-play" classifier in the context of facial expression recognition framework. We test this method against several other classification techniques, including LDA, GDA and SVM, on the Cohn-Kanade database

Teaching video neuro images. the beevor sign in late-onset pompe disease

The Beevor sign, an upward deflection of the umbilicus on flexion of the neck, is a characteristic finding in facioscapulohumeral muscular dystrophy.1 Many other neuromuscular disorders involving axial muscles can present a Beevor sign.2 We report a 45-year-old man with late-onset Pompe disease showing a major Beevor sign (figure 1 and video on the Neurology® Web site at Neurology.org). He had progressive limb-girdle weakness that started in his 20s and severe axial weakness. Whole-body muscle MRI showed a complete fatty replacement and atrophy of the lower part of rectus abdominis and a milder involvement of the upper par

Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation

We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52. Clinical examination showed short stature, mild symmetric eyelid ptosis without ophthalmoplegia, scapular winging and Achilles tendon retraction. A muscle weakness was not noted. CK levels were up to 350 UI/L. Deltoid muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fiber hypotrophy. Whole body MRI revealed fatty infiltration of posterior legs compartments, lumbar paraspinal and serratus muscles. Myotonic dystrophy type1 and 2, Pompe disease and MTM1 and DNM2-related CNM were ruled out. By sequencing BIN1, we identified a heterozygous pathogenic mutation [c.107C > A (p.A36E)], and we demonstrate that the mutation strongly impairs the membrane tubulation property of the protein. One affected sister carried the same mutation. Her clinical examination and muscle MRI revealed a similar phenotype. Our findings expand the clinical and genetic spectrum of the autosomal dominant CNM associated with BIN1 mutations

Genome-wide scan for runs of homozygosity in South American Camelids

Background: Alpaca (Vicugna pacos), llama (Lama glama), vicugna (Vicugna vicugna) and guanaco (Lama guanicoe), are the camelid species distributed over the Andean high-altitude grasslands, the Altiplano, and the Patagonian arid steppes. Despite the wide interest on these animals, most of the loci under selection are still unknown. Using whole-genome sequencing (WGS) data we investigated the occurrence and the distribution of Runs Of Homozygosity (ROHs) across the South American Camelids (SACs) genome to identify the genetic relationship between the four species and the potential signatures of selection. Results: A total of 37 WGS samples covering the four species was included in the final analysis. The multi-dimensional scaling approach showed a clear separation between the four species; however, admixture analysis suggested a strong genetic introgression from vicugna and llama to alpaca. Conversely, very low genetic admixture of the guanaco with the other SACs was found. The four species did not show significant differences in the number, length of ROHs (100-500 kb) and genomic inbreeding values. Longer ROHs (> 500 kb) were found almost exclusively in alpaca. Seven overlapping ROHs were shared by alpacas, encompassing nine loci (FGF5, LOC107034918, PRDM8, ANTXR2, LOC102534792, BSN, LOC116284892, DAG1 and RIC8B) while nine overlapping ROHs were found in llama with twenty-five loci annotated (ERC2, FZD9, BAZ1B, BCL7B, LOC116284208, TBL2, MLXIPL, PHF20, TRNAD-AUC, LOC116284365, RBM39, ARFGEF2, DCAF5, EXD2, HSPB11, LRRC42, LDLRAD1, TMEM59, LOC107033213, TCEANC2, LOC102545169, LOC116278408, SMIM15, NDUFAF2 and RCOR1). Four overlapping ROHs, with three annotated loci (DLG1, KAT6B and PDE4D) and three overlapping ROHs, with seven annotated genes (ATP6V1E1, BCL2L13, LOC116276952, BID, KAT6B, LOC116282667 and LOC107034552), were detected for vicugna and guanaco, respectively. Conclusions: The signatures of selection revealed genomic areas potentially selected for production traits as well as for natural adaptation to harsh environment. Alpaca and llama hint a selection driven by environment as well as by farming purpose while vicugna and guanaco showed selection signals for adaptation to harsh environment. Interesting, signatures of selection on KAT6B gene were identified for both vicugna and guanaco, suggesting a positive effect on wild populations fitness. Such information may be of interest to further ecological and animal production studies

Symptoms and quality of life from patients undergoing hemodialysis in Switzerland

Background: Dialysis patients experience multiple symptoms impairing their quality of life. A relationship seems to exist between the cultural context and the burden of symptoms. In this study, the prevalence and severity of 30 symptoms and their relationship with quality of life among hemodialysis patients in Switzerland is explored. Methods: A cross-sectional correlation design was used with a convenience sample of 119 patients from five dialysis units. Presence and severity of symptoms were assessed with the Dialysis Symptom Index and quality of life with the WHOQOL-Bref questionnaire. Multivariate linear regressions were used to examine the relationship between the prevalence and severity of symptoms, respectively, and quality of life. T-tests and Fisher’s tests were used for the international comparison

Post-Newtonian evolution of massive black hole triplets in galactic nuclei - I. Numerical implementation and tests

Massive black hole binaries (MBHBs) are thought to be the main source of gravitational waves (GWs) in the low-frequency domain surveyed by ongoing and forthcoming Pulsar Timing Array campaigns and future space-borne missions, such as eLISA. However, many low-redshift MBHBs in realistic astrophysical environments may not reach separations small enough to allow significant GW emission, but rather stall on (sub) pc-scale orbits. This 'last-parsec problem' can be eased by the appearance of a third massive black hole (MBH) - the 'intruder' - whose action can force, under certain conditions, the inner MBHB on a very eccentric orbit, hence allowing intense GW emission eventually leading to coalescence. A detailed assessment of the process, ultimately driven by the induced Kozai-Lidov oscillations of the MBHB orbit, requires a general relativistic treatment and the inclusion of external factors, such as the Newtonian precession of the intruder orbit in the galactic potential and its hardening by scattering off background stars. In order to tackle this problem, we developed a three-body post-Newtonian (PN) code framed in a realistic galactic potential, including both non-dissipative 1PN and 2PN terms, and dissipative terms such as 2.5PN effects, orbital hardening of the outer binary, and the effect of the dynamical friction on the early stages of the intruder dynamics. In this first paper of a series devoted at studying the dynamics of MBH triplets from a cosmological perspective, we describe, test and validate our code

Beyond the Concepts of Elder and Marginal in DCD Liver Transplantation: A Prospective Observational Matched-Cohort Study in the Italian Clinical Setting

Donation after circulatory determination of death (DCD) is a valuable strategy to increase the availability of grafts for liver transplantation (LT). As the average age of populations rises, the donor pool is likely to be affected by a potential increase in DCD donor age in the near future. We conducted a prospective cohort study to evaluate post-transplantation outcomes in recipients of grafts from elderly DCD donors compared with younger DCD donors, and elderly donors after brainstem determination of death (DBD). From August 2020 to May 2022, consecutive recipients of deceased donor liver-only transplants were enrolled in the study. DCD recipients were propensity score matched 1:3 to DBD recipients. One-hundred fifty-seven patients were included, 26 of whom (16.6%) were transplanted with a DCD liver graft. After propensity score matching and stratification, three groups were obtained: 15 recipients of DCD donors & GE;75 years, 11 recipients of DCD donors <75 years, and 28 recipients of DBD donors & GE;75 years. Short-term outcomes, as well as 12 months graft survival rates (93.3%, 100%, and 89.3% respectively), were comparable among the groups. LT involving grafts retrieved from very elderly DCD donors was feasible and safe in an experienced high-volume center, with outcomes comparable to LTs from younger DCD donors and age-matched DBD donors

Facial Expressions Evaluation Survey

Facial expressions are probably the most visual method to convey emotions and one of the most powerful means to relate to each other. A typical automatic system for the recognition of facial expressions is based on a representation of the expression, learned from a training set of pre-selected meaningful features. The learning process relies on the labels associated by an expert or a group of experts to the training samples. The experts are asked to associate each images in the training set to one of the expressions we are dealing with. In other words we must have label makers (the experts) reliable enough and who have strong knowledge of the problem in order to ensure the correctness of what we are trying to learn. What is really important is to how get and use this knowledge. The facial expressions evaluation survey is born in order to find a way to extract this knowledge directly from the experts. In the issue of expressions evaluation every single human can be considered as an expert and gives his/her contribution in building this ”common sense knowledge”