Case Report: A giant fecaloma revealed by severe aspiration pneumonia and urinary retention [version 1; peer review: 2 approved]

Fecaloma is an accumulation of hardened impacted stool typically occurring in the sigmoid colon and rectum. It mainly affects elderly and bedridden patients suffering from chronic constipation and can be revealed by different signs. We report a case of 74-year-old female, with anorexia, Alzheimer’s disease, and chronic constipation, who was admitted to the emergency department with complaints of dyspnea and anuria. Clinical examination showed fever, Glasgow Coma Scale score of 13/15, tachycardia with a blood pressure of 100/50 mmHg, polypnea with hypoxia, foci of crepitant rales in pulmonary auscultation and a tender hypogastric mass with mild diffuse abdominal tenderness. Digital rectal examination revealed hard fecal material. Computed tomography (CT) images demonstrated bilateral pulmonary parenchymal condensation and a huge heterogeneous fecaloma in the sigmoid colon and rectum compressing the bladder. Based on these findings, the diagnosis of giant fecaloma causing aspiration pneumonia and urinary retention was retained. Manual disimpaction and bowel enemas were done but they were unsuccessful and surgical treatment was refused. Ultimately the patient died due to septic shock. Early diagnosis should be made to relieve symptoms and prevent complications

Genetic landscape of a large cohort of Primary Ovarian Insufficiency : New genes and pathways and implications for personalized medicine

Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yield-ing infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology.Methods 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary. Findings A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromo-somal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link.Interpretation We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogene-sis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility.Funding Universite? Paris Saclay, Agence Nationale de Biome?decine.Copyright (c) 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)Peer reviewe

Bayesian Integrative Modeling of Genome-Scale Metabolic and Regulatory Networks

The integration of high-throughput data to build predictive computational models of cellular metabolism is a major challenge of systems biology. These models are needed to predict cellular responses to genetic and environmental perturbations. Typically, this response involves both metabolic regulations related to the kinetic properties of enzymes and a genetic regulation affecting their concentrations. Thus, the integration of the transcriptional regulatory information is required to improve the accuracy and predictive ability of metabolic models. Integrative modeling is of primary importance to guide the search for various applications such as discovering novel potential drug targets to develop efficient therapeutic strategies for various diseases. In this paper, we propose an integrative predictive model based on techniques combining semantic web, probabilistic modeling, and constraint-based modeling methods. We applied our approach to human cancer metabolism to predict in silico the growth response of specific cancer cells under approved drug effects. Our method has proven successful in predicting the biomass rates of human liver cancer cells under drug-induced transcriptional perturbations

Monitoring road traffic with a UAV-based system

International audienceUnmanned Aerial Vehicles (UAVs) are becoming an attractive solution for road traffic monitoring because of their mobility, low cost, and broad view range. Up to now, existing traffic monitoring systems based on UAVs only use one UAV with fixed trajectory to extract information about vehicles. In this paper, we propose a road traffic monitoring system using multiple UAVs. We develop a method to generate adaptive UAVs trajectories, which is based on the tracking of moving points in the UAV field of view. Also we generate UAVs trajectories using mobility models that are usually used to model vehicles mobility. UAVs monitor the traffic on a city road, they are responsible for collecting and sending, in real time, vehicle information to a traffic processing center for traffic regulation purposes. We show that the performance of our system is better than the performance of the fixed UAV trajectory traffic monitoring system in terms of coverage rates and events detection rates

Designing an energy efficient UAV tracking algorithm

International audienceIn this paper, we present a solution for Unmanned Aerial Vehicle (UAV) energy saving problem while ensuring a continuous tracking of a mobile target. Our tracking algorithm is based on three zones, and according to the target placement in those zones, the UAV will do a specific type of actions. We proposed an additional zone called the authorized zone. In this zone, the UAV keeps a fixed velocity and a fixed altitude, and this contributes to the limitation of the energy consumption while also maintaining a minimal altitude. We also proposed an adapted criterion which considers the velocity, altitude and acceleration changes to evaluate the energy consumption. The idea here is to limit the number of the UAV adjustments to reduce the energy consumption and still keeping the target in its camera field of view

Unmanned Aerial Systems: Overview and Open Challenges

International audienceUnmanned Aerial Systems (UAS) are attracting increasing attention since their introduction in many civil fields and after being solely dedicated to military applications. An UAS is composed of Unmanned Aerial Vehicles (UAV), ground stations and data links. UAVs may form a Flying Ad Hoc Network (FANET), they can communicate with each other or with the ground infrastructure to deliver and exchange information. UAV network topology has a direct impact on the communication scheme, which can be centralized or decentralized. Trajectory and speed variation of UAVs are represented by mobility models. UAVs can move individually or within a group. To meet the requirements of an UAS, which are ensuring high coverage and high speed, new wireless data links are being developed while taking into account the frequency spectrum availability. In this paper we briefly present the general characteristics of UAS, UAV and FANET. We present UAV different current applications, and then we discuss features of their topologies. Next we investigate the different UAV mobility models applied to individuals and to groups. Finally, we present a review of the most important communication protocols proposed for UAS

INTRACYTOPLASMIC SPERM INJECTION OUTCOME OF EJACULATED VERSUS TESTICULAR SPERM IN CRYPTOZOOSPERMIC MEN.

76th Scientific Congress of the American-Society-for-Reproductive-Medicine, ELECTR NETWORK, OCT 17-21, 2020International audienc

VARICOCELE INDUCE OXIDATIVE STRESS AND SPERM DNA DAMAGES IN INFERTILES PATIENTS.

76th Scientific Congress of the American-Society-for-Reproductive-Medicine, ELECTR NETWORK, OCT 17-21, 2020International audienc

Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate

International audienceActivation induced cytidine deaminase (AID) is an essential enzyme for class switch recombination (CSR) and somatic hypermutation (SHM) during secondary immune response. Mutations in the AICDA gene are responsible for Hyper IgM 2 syndrome where both CSR and SHM or only CSR are affected. Indeed, triggering either of the two mechanisms requires the DNA deamination activity of AID. Besides, different domains of AID may be differentially involved in CSR and SHM through their interaction with specific cofactors. Herein, we studied the AID-induced SHM activity of the AID-His130Pro mutant identified in a patient with Hyper IgM 2 syndrome. AID mutagenic activity was monitored by the reversion of nonsense mutations of the EGFP gene assessed by flow cytometry. We found that the His130Pro mutation, which affects CSR, preserves AID mutagenic activity. Indeed, the His130 residue is located in a putative specific CSR region in the APOBEC-like domain, known to involve CSR specific cofactors that probably play a major role in AID physiological activities