Multi-Estimator Full Left Ventricle Quantification through Ensemble Learning

Cardiovascular disease accounts for 1 in every 4 deaths in United States. Accurate estimation of structural and functional cardiac parameters is crucial for both diagnosis and disease management. In this work, we develop an ensemble learning framework for more accurate and robust left ventricle (LV) quantification. The framework combines two 1st-level modules: direct estimation module and a segmentation module. The direct estimation module utilizes Convolutional Neural Network (CNN) to achieve end-to-end quantification. The CNN is trained by taking 2D cardiac images as input and cardiac parameters as output. The segmentation module utilizes a U-Net architecture for obtaining pixel-wise prediction of the epicardium and endocardium of LV from the background. The binary U-Net output is then analyzed by a separate CNN for estimating the cardiac parameters. We then employ linear regression between the 1st-level predictor and ground truth to learn a 2nd-level predictor that ensembles the results from 1st-level modules for the final estimation. Preliminary results by testing the proposed framework on the LVQuan18 dataset show superior performance of the ensemble learning model over the two base modules.Comment: Jiasha Liu, Xiang Li and Hui Ren contribute equally to this wor

Les Mélanomes Malins Nasosinusiens

Le mélanome malin nasosinusien est une tumeur rare prenant naissance au niveau des mélanocytes de la muqueuse respiratoire. Les auteurs rapportent deux observations de mélanomes malins nasosinusiens suivis et traités au service d\'ORL et de CCF de l\'hôpital Habib Thameur entre 1999 et 2005. Il s\'agit d\'un homme et d\'une femme âgés respectivement de 62 et 68 ans. La symptomatologie clinique est dominée par l\'obstruction nasale et l\'épistaxis. Le diagnostic est histologique après biopsie de la tumeur. Le traitement chirurgical est suivi d\'une radiothérapie externe dans les deux cas. L\'évolution est marquée par une récidive tumorale dans un cas. Primary mucosal melanoma of the nasal cavity and paranasal sinuses is an uncommun clinical entity occurring on the level of the melanocytes respiratory mucous membrane. The authors report two observations of malignant melanoma of sinonasal mucosa treated between 1999 and 2005. It acts of an old man and a woman respectively 62 and 68 years old, both presented with nasal obstruction and epistaxis. The diagnosis was histological after biopsy of the tumour. The surgical treatment was followed of an external radiotherapy in both cases. The evolution was marked by a local recurrence in one case. Journal Tunisien d\'ORL et de chirurgie cervico-faciale Vol. 16 2006: pp. 50-5

A Convex Max-Flow Segmentation of LV Using Subject-Specific Distributions on Cardiac MRI

Abstract. This work studies the convex relaxation approach to the left ventricle (LV) segmentation which gives rise to a challenging multi-region seperation with the geometrical constraint. For each region, we consider the global Bhattacharyya metric prior to evaluate a gray-scale and a ra-dial distance distribution matching. In this regard, the studied problem amounts to finding three regions that most closely match their respective input distribution model. It was previously addressed by curve evolution, which leads to sub-optimal and computationally intensive algorithms, or by graph cuts, which result in heavy metrication errors (grid bias). The proposed convex relaxation approach solves the LV segmentation through a sequence of convex sub-problems. Each sub-problem leads to a novel bound of the Bhattacharyya measure and yields the convex formulation which paves the way to build up the efficient and reliable solver. In this respect, we propose a novel flow configuration that accounts for labeling-function variations, in comparison to the existing flow-maximization con-figurations. We show it leads to a new convex max-flow formulation which is dual to the obtained convex relaxed sub-problem and does give the exact and global optimums to the original non-convex sub-problem. In addition, we present such flow perspective gives a new and simple way to encode the geometrical constraint of optimal regions. A comprehen-sive experimental evaluation on sufficient patient subjects demonstrates that our approach yields improvements in optimality and accuracy over related recent methods.

Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss

Otosclerosis (OTSC) is a complex bone disorder of the otic capsule, which causes conductive hearing impairment in human adults. The dysregulation of the signaling axis mediated by the receptor activator of nuclear factor-kappa-B (RANK), RANK ligand (RANKL), and osteoprotegerin has been widely attributed to the context of metabolic bone disorders. While genetic associations and epigenetic alterations in the TNFSF11 gene (RANKL) have been well-linked to metabolic bone diseases of the skeleton, particularly osteoporosis, they have never been addressed in OTSC. This study aimed to assess whether the genetic association of rs1021188 polymorphism in the upstream of TNFSF11 and the DNA methylation changes in its promoter CpG-region reveal the susceptibility of OTSC. Peripheral blood DNA samples were collected from unrelated Tunisian-North African subjects for genotyping (109 cases and 120 controls) and for DNA methylation analysis (40 cases and 40 controls). The gender-stratified analysis showed that the TNFSF11 rs1021188 C/T was associated with OTSC in men (p = 0.023), but not in women (p = 0.458). Individuals with CC genotype were more susceptible to OTSC, suggesting an increased risk to disease development. Using publicly available data, the rs1021188 was within a cluster grouping the subpopulations with African ethnicity. Moreover, 26 loci in the TNFSF11 gene were in linkage disequilibrium with rs1021188, revealing relative similarities between different populations. Significant differences in both DNA methylation and unmethylation status were detected with 4.53- and 4.83-fold decreases in the global DNA methylation levels in female and male OTSC groups, respectively. These changes could contribute to an increased risk of OTSC development. Bioinformatic analyses indicated that each of the rs1021188 variations and the DNA methylation changes in the promoter CpG-sites within TNFSF11 may play an important role in its transcription regulation. To our knowledge, this is the first study that investigates an independent effect of the rs1021188 polymorphism and DNA hypomethylation of TNFSF11 promoter in OTSC. Genetic and epigenetic changes in the regulatory regions of TNFSF11 could offer new molecular insights into the understanding of the complexity of OTSC

Le carcinome indifférencié des glandes salivaires

Le carcinome indifferencie primitif des glandes salivaires est rare. Son association avec le virus Epstein Barr, initialement decrite chez les esquimaux, est retrouvee dans la majorite des cas publies. Nous rapportons un nouveau cas tunisien survenu chez un homme age de 64 ans, revele par une tumefaction de la glande parotide gauche. Microscopiquement se discutait le caractere primitif ou secondaire de la tumeur, etaye par les examens complementaires. Le patient etait traite par une parotidectomie suivie d’un curage ganglionnaire et d’une radiotherapie. L’evolution etait favorable apres un an de recul.  Mots clès : Glande salivaire- Carcinome indifferencie- Virus Epstein Bar

FANCA Gene Mutations in North African Fanconi Anemia Patients

Populations in North Africa (NA) are characterized by a high rate of consanguinity. Consequently, the proportion of founder mutations might be higher than expected and could be a major cause for the high prevalence of recessive genetic disorders like Fanconi anemia (FA). We report clinical, cytogenetic, and molecular characterization of FANCA in 29 North African FA patients from Tunisia, Libya, and Algeria. Cytogenetic tests revealed high rates of spontaneous chromosome breakages for all patients except two of them. FANCA molecular analysis was performed using three different molecular approaches which allowed us to identify causal mutations as homozygous or compound heterozygous forms. It included a nonsense mutation (c.2749C > T; p.Arg917Ter), one reported missense mutation (c.1304G > A; p.Arg435His), a novel missense variant (c.1258G > A; p.Asp409Glu), and the FANCA most common reported mutation (c.3788_3790delTCT; p.Phe1263del). Furthermore, three founder mutations were identified in 86.7% of the 22 Tunisian patients: (1) a deletion of exon 15, in 36.4% patients (8/22); (2), a deletion of exons 4 and 5 in 23% (5/22) and (3) an intronic mutation c.2222 + 166G > A, in 27.3% (6/22). Despite the relatively small number of patients studied, our results depict the mutational landscape of FA among NA populations and it should be taken into consideration for appropriate genetic counseling

Brain MRI and biological diagnosis in five Tunisians MLD patients

Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e. arylsulfatase A (ASA). we studied 5/200 cases of MLD and clearly distinguished three clinical forms. One of them presented the juvenile form; two presented the late infantile form; and two other presented the adult form. The Magnetic Resonance Imaging (MRI) of these patients showed a diffuse, bilateral and symmetrical demyelination. The biochemical diagnosis of MLD patients evidencing the low activity of ASA and sulfatide accumulation