Case Report: Giant cystic schwannoma of the middle mediastinum with cervical extension

Schwannomas (neurilemmomas) are benign tumors arising from the Schwann cells of the neural sheath. They are typically, well-encapsulated lesions which rarely adhere to the adjacent structures. In the chest, schwannomas are often seen within the posterior mediastinum and commonly originating along intercostal nerves. Several operative approaches have previously been described for the resection of these tumors, including thoracoscopic techniques and posterolateral thoracotomy. We report in this case a giant cystic mediastinal schwannoma of the left recurrent laryngeal nerve with cervical extension, unresectable by the usual described approaches, which was completely removed through a cervical approach.Keywords: mediastinal tumor; schwannoma; thoracotomy; cervicotom

L’endocardite à Bartonella en Tunisie: Particularités lésionnelles et évolutives

L'endocardite à Bartonalla est une infection ubiquitaire, son diagnostic est difficile vu qu'il s'agit souvent d'endocardite à hémoculture négative. Lebut de cette étude est d'analyser les particularités lésionnelles et  évolutives de cette entité dans un pays du nord d'Afrique, la Tunisie et dedémontrer la gravité de cette infection. Nous avons étudié  rétrospectivement les dossiers médicaux de 20 patients atteints  d'endocardite à Bartonella, confirmée selon les critères de Dukes modifiés. L'âge moyen de nos patients était 37 ans avec une prédominance  masculine (SR=3). Tous nos malades avaient un niveau socio-économique bas. Le motif essentiel de consultation était la dyspnée, 6 patients étaient admis dans un tableau d'insuffisance cardiaque congestive. Une  prédilection des lésions au niveau de la valve aortique a été notée (14 cas). Quatorze patients avaient des végétations endocarditiques avec une taille qui dépasse 10 mm chez 8 malades. La majorité des patients (18 patients) présentaient une régurgitation valvulaire massive en rapport principalement avec des mutilations importantes (6 cas de ruptures de cordages mitraux, 2 cas de déchirures des sigmoïdes aortiques, un cas de perforation valvulaire aortique, un cas de désinsertion de prothèse  mitrale). Quinze malades (3/4) avaient nécessité une chirurgie à la phase active de la maladie, l'indication majeure était l'insuffisance cardiaque. Une complication neurologique était notée chez 2 malades et une  complication rénale chez 3 malades. Treize patients étaient guéris, 5 malades étaient décédés et 2 malades opérés ont présenté une  réinfection à staphylococcus aureus et à candida albicans en  postopératoire. L'endocardite à Bartonella est une infection grave. Cette Bactérie possède un potentiel destructif important. Le recours à la chirurgie est quasi constant. La morbi-mortalité est élevée. La recherche de cette bactérie devrait être alors systématique chez nos malades suspects d'endocardite d'autant plus que la bartonellose est endémique sur nos terres

Virulence properties and random amplification of polymorphic DNA (RAPD) fingerprinting of Candida albicans isolates obtained from Monastir dental hospital, Tunisia

Genotypic and phenotypic characterization as well as studies on the virulence factors of Candida albicans isolates obtained from oral cavity of patients was carried out using random amplified polymorphic DNA (RAPD) fingerprinting and epithelial cells adherence assay, respectively. RAPD patterns revealed the presence of 13 C. albicans genotypes separated into two clusters at 75% ofsimilarity when they were combined. Results also showed the presence of haemolytic protease activity as virulence factors with 88% of the C. albicans strains been able to adhere to Caco-2 cells and only 64% to Hep-2. RAPD-polymerase chain reaction (PCR) is a molecular tool used to differentiate the isolates into various genotypes based on their virulence properties.Key words: Candida albicans, stomatitis, random amplified polymorphic DNA, Hep-2, Caco-2 cells

QT Prolongation Complicated with Torsades de Pointes in Prosthetic Mitral Valve Endocarditis: A Case Report

We present the case of a 49-year-old male patient with prosthetic mitral valve endocarditis associated with QT prolongation and torsades de pointes. He was asymptomatic until the end of January 2012, when he was admitted to our hospital emergency unit because of syncope, fever, and suspicion of endocarditis. Cardiologic evaluation was requested and the transthoracic (TTE) and transesophageal (TEE) echocardiograms revealed vegetations on the prosthetic mitral valve. All cultures were positive for methicillin-sensitive Staphylococcus aureus. The corrected QT (QTc) interval was markedly prolonged upon admission (QTc 540 ms). He experienced torsades de pointes (TdP) several times and he was recovered after bystander cardiopulmonary resuscitation. The clinical course and the long QTc interval with deep inverted T wave were completely normalized 4 weeks after. He continued on triple antibiotic therapy for 45 days with a good revolution. The clinical features and the possible mechanisms of QT prolongation (inflammation, infection) of this patient are discussed

Biodiversity Studies for Sustainable Lagoon: Thermophilic and Tropical Fish Species vs. Endemic Commercial Species at Mellah Lagoon (Mediterranean, Algeria)

Lagoons play an important socio-economic role and represent a precious natural heritage at risk from fishing pressure and chemical and biological pollution. Our research focused on better understanding the discrimination of fish biodiversity, the detection of non-indigenous species, and the valorization of commercial indigenous species at Mellah lagoon (Algeria). Taxonomic characterization and barcoding for all fish species and Inkscape schematic drawings for the most common species are provided. A total of 20 families and 37 species were recorded. The thermophilic species Coris julis, Thalassoma pavo, and Aphanius fasciatus and tropical species such as Gambusia holbrooki and Parablennius pilicornis were identified. Numerous Mediterranean species of socio-economic importance are highlighted, and detailed information is summarized for the lagoon’s sustainability. This short-term evaluation goes hand in hand with long-term programs documenting the interaction between indigenous and non-indigenous species in the lagoon and will allow the development of a provisional relationship model for future studies. Thermophilic and tropical species patterns in the Mellah lagoon are presented. Taken together, we provide useful data that can guide future investigations and may become a potential management tool for achieving the Sustainable Development Goals and protecting species with large socio-economic roles from potential thermal stress impact

Seabird surveillance: combining CCTV and artificial intelligence for monitoring and research

Ecological research and monitoring need to be able to rapidly convey information that can form the basis of scientifically sound management. Automated sensor systems, especially if combined with artificial intelligence, can contribute to such rapid high-resolution data retrieval. Here, we explore the prospects of automated methods to generate insights for seabirds, which are often monitored for their high conservation value and for being sentinels for marine ecosystem changes. We have developed a system of video surveillance combined with automated image processing, which we apply to common murres Uria aalge. The system uses a deep learning algorithm for object detection (YOLOv5) that has been trained on annotated images of adult birds, chicks and eggs, and outputs time, location, size and confidence level of all detections, frame-by-frame, in the supplied video material. A total of 144 million bird detections were generated from a breeding cliff over three complete breeding seasons (2019–2021). We demonstrate how object detection can be used to accurately monitor breeding phenology and chick growth. Our automated monitoring approach can also identify and quantify rare events that are easily missed in traditional monitoring, such as disturbances from predators. Further, combining automated video analysis with continuous measurements from a temperature logger allows us to study impacts of heat waves on nest attendance in high detail. Our automated system thus produces comparable, and in several cases significantly more detailed, data than those generated from observational field studies. By running in real time on the camera streams, it has the potential to supply researchers and managers with high-resolution up-to-date information on seabird population status. We describe how the system can be modified to fit various types of ecological research and monitoring goals and thereby provide up-to-date support for conservation and ecosystem management

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

A CAPN1 missense mutation in Parson Russell Terrier dogs is associated with spinocerebellar ataxia. We now report that homozygous or heterozygous CAPN1-null mutations in humans result in cerebellar ataxia and limb spasticity in four independent pedigrees. Calpain-1 knockout (KO) mice also exhibit a mild form of ataxia due to abnormal cerebellar development, including enhanced neuronal apoptosis, decreased number of cerebellar granule cells, and altered synaptic transmission. Enhanced apoptosis is due to absence of calpain-1-mediated cleavage of PH domain and leucine-rich repeat protein phosphatase 1 (PHLPP1), which results in inhibition of the Akt pro-survival pathway in developing granule cells. Injection of neonatal mice with the indirect Akt activator, bisperoxovanadium, or crossing calpain-1 KO mice with PHLPP1 KO mice prevented increased postnatal cerebellar granule cell apoptosis and restored granule cell density and motor coordination in adult mice. Thus, mutations in CAPN1 are an additional cause of ataxia in mammals, including humans

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade. Distinctive phenotypic features are the presence of "kinky" hair and long eyelashes. The genetic basis of the disease has been well established, with over 40 associated mutations identified in the gene GAN, encoding the BTB-KELCH protein gigaxonin, involved in intermediate filament regulation. METHODS: An Illumina Human CytoSNP-12 array followed by whole exome sequence analysis was used to identify the disease associated gene mutation in a large consanguineous family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT-2) from which all but one affected member had straight hair. RESULTS: Here we report the identification of a novel GAN missense mutation underlying the CMT-2 phenotype observed in this family. Although milder forms of GAN, with and without the presence of kinky hair have been reported previously, a phenotype distinct from that was investigated in this study. All family members lacked common features of GAN, including ataxia, nystagmus, intellectual disability, seizures, and central nervous system involvement. CONCLUSIONS: Our findings broaden the spectrum of phenotypes associated with GAN mutations and emphasize a need to proceed with caution when providing families with diagnostic or prognostic information based on either clinical or genetic findings alone

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Alterations of Ca2+ homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca2+ efflux from the endoplasmic reticulum into the cytoplasm is controlled by binding of inositol 1,4,5-trisphosphate to its receptor. Activated inositol 1,4,5-trisphosphate receptors are then rapidly degraded by the endoplasmic reticulum-associated degradation pathway. Mutations in genes encoding the neuronal isoform of the inositol 1,4,5-trisphosphate receptor (ITPR1) and genes involved in inositol 1,4,5-trisphosphate receptor degradation (ERLIN1, ERLIN2) are known to cause hereditary spastic paraplegia (HSP) and cerebellar ataxia. We provide evidence that mutations in the ubiquitin E3 ligase gene RNF170, which targets inositol 1,4,5-trisphosphate receptors for degradation, are the likely cause of autosomal recessive HSP in four unrelated families and functionally evaluate the consequences of mutations in patient fibroblasts, mutant SH-SY5Y cells and by gene knockdown in zebrafish. Our findings highlight inositol 1,4,5-trisphosphate signaling as a candidate key pathway for hereditary spastic paraplegias and cerebellar ataxias and thus prioritize this pathway for therapeutic interventions

A multi-biometric iris recognition system based on a deep learning approach

YesMultimodal biometric systems have been widely applied in many real-world applications due to its ability to deal with a number of significant limitations of unimodal biometric systems, including sensitivity to noise, population coverage, intra-class variability, non-universality, and vulnerability to spoofing. In this paper, an efficient and real-time multimodal biometric system is proposed based on building deep learning representations for images of both the right and left irises of a person, and fusing the results obtained using a ranking-level fusion method. The trained deep learning system proposed is called IrisConvNet whose architecture is based on a combination of Convolutional Neural Network (CNN) and Softmax classifier to extract discriminative features from the input image without any domain knowledge where the input image represents the localized iris region and then classify it into one of N classes. In this work, a discriminative CNN training scheme based on a combination of back-propagation algorithm and mini-batch AdaGrad optimization method is proposed for weights updating and learning rate adaptation, respectively. In addition, other training strategies (e.g., dropout method, data augmentation) are also proposed in order to evaluate different CNN architectures. The performance of the proposed system is tested on three public datasets collected under different conditions: SDUMLA-HMT, CASIA-Iris- V3 Interval and IITD iris databases. The results obtained from the proposed system outperform other state-of-the-art of approaches (e.g., Wavelet transform, Scattering transform, Local Binary Pattern and PCA) by achieving a Rank-1 identification rate of 100% on all the employed databases and a recognition time less than one second per person