SIVA UAV: A Case Study for the EMC Analysis of Composite Air Vehicles

[EN] The increased use of carbon-fiber composites in unmanned aerial vehicles is a challenge for their EMC assessment by numerical solvers. For accurate and reliable simulations, numerical procedures should be tested not only for individual components, but also within the framework of complete systems. With this aim, this paper presents a benchmark test case based on experimental measurements coming from direct-current injection tests in the SIVA unmanned air vehicle, reproduced by a numerical finite-difference-time-domain solver that employs a new subgridding scheme to treat lossy composite thin panels. Validation was undertaken by applying the feature selective validation method, which quantifies the agreement between experimental and numerical data.This work was supported by the Projects TEC2013-48414C3-{ 1,2,3}-R, TEC2016-79214-C3-{1,2,3}-R, and TEC2015-68766-REDC (Spanish MINECO, EU FEDER), P12-TIC-1442 (J. de Andalucia, Spain), Alhambra-UGRFDTD (AIRBUS DS), and by the CSIRC alhambra.ugr.es supercomputing center.Cabello, MR.; Fernández, S.; Pous, M.; Pascual-Gil, E.; Angulo, LD.; López, P.; Riu, PJ.... (2017). SIVA UAV: A Case Study for the EMC Analysis of Composite Air Vehicles. IEEE Transactions on Electromagnetic Compatibility. 59(4):1103-1113. https://doi.org/10.1109/TEMC.2017.2648507S1103111359

Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5)

BackgroundSteroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene, is a transcriptional factor crucial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance including disorders of sex development and oligospermia–azoospermia in 46,XY adults. Preservation of fertility remains challenging in these patients.ObjectiveThe aim was to offer fertility preservation at the end of puberty in an NR5A1 mutated patient.Case reportThe patient was born of non-consanguineous parents, with a disorder of sex development, a small genital bud, perineal hypospadias, and gonads in the left labioscrotal fold and the right inguinal region. Neither uterus nor vagina was detected. The karyotype was 46,XY. Anti-Müllerian hormone (AMH) and testosterone levels were low, indicating testicular dysgenesis. The child was raised as a boy. At 9 years old, he presented with precocious puberty treated by triptorelin. At puberty, follicle-stimulating hormone (FSH), luteinising hormone (LH), and testosterone levels increased, whereas AMH, inhibin B, and testicular volume were low, suggesting an impaired Sertoli cell function and a partially preserved Leydig cell function. A genetic study performed at almost 15 years old identified the new frameshift variant NM_004959.5: c.207del p.(Phe70Serfs*5) at a heterozygous state. He was thus addressed for fertility preservation. No sperm cells could be retrieved from three semen collections between the ages of 16 years 4 months and 16 years 10 months. A conventional bilateral testicular biopsy and testicular sperm extraction were performed at 17 years 10 months of age, but no sperm cells were found. Histological analysis revealed an aspect of mosaicism with seminiferous tubules that were either atrophic, with Sertoli cells only, or presenting an arrest of spermatogenesis at the spermatocyte stage.ConclusionWe report a case with a new NR5A1 variant. The fertility preservation protocol proposed at the end of puberty did not allow any sperm retrieval for future parenthood

Host factor PLAC8 is required for pancreas infection by SARS-CoV-2

Although mounting evidence demonstrated that pancreas is infected by SARS-CoV-2 the severity and pathophysiology of pancreatic COVID-19 disease are still unclear. Here we investigated the consequences of SARS-CoV-2 infection of the pancreas and the role of Placenta-associated protein-8 (PLAC8). Our data showed pancreatic damage in patients who died from COVID-19. Notably, circulating pancreatic enzymes stratified patients according to COVID-19 severity and outcome. PLAC8 expression was associated with SARS-CoV-2 infection in postmortem analysis of COVID-19 patients and functional assays demonstrated the requirement of PLAC8 in SARS-CoV-2 pancreatic infection. Full SARS-CoV-2 infectious virus revealed a requirement of PLAC8 for efficient viral infection of pancreatic cell lines. Finally, we observed colocalization of PLAC8 and SARS-CoV-2 in the pancreas of deceased patients. In conclusion, our data confirm the human pancreas as a SARS-CoV-2 target and demonstrate the requirement of PLAC8 for SARS-CoV-2 pancreatic infection thereby opening new target opportunities for COVID-19-associated pancreatic pathogenesis.N

Health-related quality of life in patients with type 1 diabetes mellitus in the different geographical regions of Brazil : data from the Brazilian Type 1 Diabetes Study Group

Background: In type 1 diabetes mellitus (T1DM) management, enhancing health-related quality of life (HRQoL) is as important as good metabolic control and prevention of secondary complications. This study aims to evaluate possible regional differences in HRQoL, demographic features and clinical characteristics of patients with T1DM in Brazil, a country of continental proportions, as well as investigate which variables could influence the HRQoL of these individuals and contribute to these regional disparities. Methods: This was a retrospective, cross-sectional, multicenter study performed by the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG), by analyzing EuroQol scores from 3005 participants with T1DM, in 28 public clinics, among all geographical regions of Brazil. Data on demography, economic status, chronic complications, glycemic control and lipid profile were also collected. Results: We have found that the North-Northeast region presents a higher index in the assessment of the overall health status (EQ-VAS) compared to the Southeast (74.6 ± 30 and 70.4 ± 19, respectively; p < 0.05). In addition, North- Northeast presented a lower frequency of self-reported anxiety-depression compared to all regions of the country (North-Northeast: 1.53 ± 0.6; Southeast: 1.65 ± 0.7; South: 1.72 ± 0.7; Midwest: 1.67 ± 0.7; p < 0.05). These findings could not be entirely explained by the HbA1c levels or the other variables examined. Conclusions: Our study points to the existence of additional factors not yet evaluated that could be determinant in the HRQoL of people with T1DM and contribute to these regional disparities

Evaluation de l'échographie thyroïdienne dans le diagnostic étiologique des hypothyroïdies congénitales

Le diagnostic étiologique des hypothyroïdies congénitales (HC) distingue les dysgénésies (athyréoses et ectopies thyroïdiennes (ET)) et les dyshormonogénèses. La scintigraphie thyroïdienne est le test de référence pour définir ces causes. L'échographie thyroïdienne est un examen disponible, moins onéreux et non irradiant. L'objectif de notre travail est d'évaluer la performance de l'échographie 1) pour diagnostiquer les ET 2) pour différencier glande en place versus loge thyroïdienne vide. Une méta-analyse a été réalisée à partir d'une revue systématique de la littérature selon les critères recommandés par le QUOROM group. Les critères d'inclusion étaient des études prospectives portant sur les enfants atteints d'HC, évaluant la performance de l'échographie pour diagnostiquer une ET, le test de référence étant la scintigraphie 99mTc ou 1231. 1476 articles sélectionnés, 4 études de bonne qualité ont été inclues (201 patients). L'échographie est un test diagnostique de l'ET dont la spécificité est de 100% (95% IC [0.96- 1]) et la sensibilité de 33% (95% IC [0.21-0.46]). Pour repérer une loge thyroïdienne vide (ectopie ou athyréose), la sensibilité est de 89% (95% IC [0.81-0.9]), la spécificité de 100% (95% IC [0.95-1]), l'odds ratio diagnostic de 286 (95% IC [56-1457]). L'échographie thyroïdienne est donc un examen performant pour déterminer la cause de 1 'HC. Sa réalisation en première intention permet d'éviter la scintigraphie lorsque l'ET est visualisée, de réaliser une scintigraphie 99mTc lorsque la loge thyroïdienne est vide à l'échographie (pour différencier une ET d'une athyréose), et de réaliser une scintigraphie 1231 avec test au perchlorate lorsque la thyroïde est en place à l'échographieLYON1-BU Santé (693882101) / SudocSudocFranceF

Hypovirilisation par mutation inactivatrice du récepteur de la LH (à propos d'une observation)

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics

International audienceAbstract Objectives Elevated free T3 (FT3) is an important feature for the early diagnosis of several diseases among which Grave’s disease or Allan-Hernon-Dudley syndrome. However, there is a lack of age-adapted reference intervals for plasma thyroid hormones in children. We conducted a study to define reference values of peripheral FT3 in children using a commonly used automated immunoassay. Methods All thyroid function test (TFT) results from our lab collected during 9 months were extracted anonymously, and reference intervals establishment followed recommendations validated by International Federation of Clinical Chemistry (IFCC). Results We defined five reference intervals covering the whole pediatric period. Overall, 26.1% of peripheral FT3 measured in children with normal TSH are out of the adult reference range, and 22.2% are upper it leading to misinterpretation. In a 9-month old patient with severe neurodevelopmental disorders, a pathological elevated FT3 has been securely interpreted using the newly established interval. Conclusions The study highlights the poor relevance of adult intervals in pediatric cares, as it confirms that plasmatic FT3 is higher during the whole pediatric period. This work reports useful age-adapted reference intervals for free T3 in pediatrics using a widely used electrochemiluminescent Immunoassay (ECLIA) kit

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency

International audienceDesign Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may be isolated, secondary to abnormalities of genes involved in TSH biosynthesis, or associated with other pituitary deficits or abnormalities of genes involved in pituitary ontogenesis. Several genes are involved in thyrotroph development and function. Objective Our aim was to determine the genetic causes of TSHD, either isolated (ITSHD) or associated with somatotroph deficiency (TSHD-GHD), in the cohort of patients from the GENHYPOPIT network. Methods Next-generation sequencing (NGS) analyses were performed as a panel of genes on a cohort of patients with non-syndromic ITSHD or TSHGHD. The variants were classified according to the American College of Medical Genetics classification reviewed by the NGS-Diag network and correlated with the phenotype. Class 3, 4, and 5 single-nucleotide variants were checked by Sanger sequencing and copy number variants by multiplex ligation-dependent probe amplification (MLPA). Results A total of 64 index cases (22 ITSHD and 42 TSHD-GHD) were included in this cohort. A genetic cause was identified in 26.5% of patients, with 36.3% in the ITSHD group (variants in TSHβ and IGSF1) and 21.4% in TSHD-GHD (variants in IGSF1, TSHβ, TRHR, GH1, POU1F1, and PROP1). Among the pathogenic and likely pathogenic variants identified, 42% were in IGSF1, including six not previously reported. Conclusion Our results show that IGSF1 variants represent the most frequent aetiology of TSH deficiency. Despite a systematic NGS approach and the identification of new variants, most patients remain without a molecular diagnosis. Larger scale studies, such as exome or genome studies, should be considered in the future