Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this study was to describe the clinical and genetic landscape of non-5q SMA and evaluate the performance of neuropathy gene panels in these disorders. METHODS: Description of patients with non-5q SMA followed in the different neuromuscular reference centers in France as well as in London, United Kingdom. Patients without a genetic diagnosis had undergone at least a neuropathy or large neuromuscular gene panel. RESULTS: Seventy-one patients from 65 different families were included, mostly sporadic cases (60.6%). At presentation, 21 patients (29.6%) showed exclusive proximal weakness (P-SMA), 35 (49.3%) showed associated distal weakness (PD-SMA), and 15 (21.1%) a scapuloperoneal phenotype (SP-SMA). Thirty-two patients (45.1%) had a genetic diagnosis: BICD2 (n = 9), DYNC1H1 (n = 7), TRPV4 (n = 4), VCP, HSBP1, AR (n = 2), VRK1, DNAJB2, MORC2, ASAH1, HEXB, and unexpectedly, COL6A3 (n = 1). The genetic diagnostic yield was lowest in P-SMA (6/21, 28.6%) compared with PD-SMA (16/35, 45.7%) and SP-SMA (10/15, 66.7%). An earlier disease onset and a family history of the disease or consanguinity were independent predictors of a positive genetic diagnosis. Neuropathy gene panels were performed in 59 patients with a 32.2% diagnostic yield (19/59). In 13 additional patients, a genetic diagnosis was achieved through individual gene sequencing or an alternative neuromuscular NGS. DISCUSSION: Non-5q SMA is genetically heterogeneous, and neuropathy gene panels achieve a molecular diagnosis in one-third of the patients. The diagnostic yield can be increased by sequencing of other neuromuscular and neurometabolic genes. Nevertheless, there is an unmet need to cluster these patients to aid in the identification of new genes

Validation of TROPOMI Surface UV Radiation Product

The TROPOspheric Monitoring Instrument (TROPOMI) onboard the Sentinel-5 Precursor (S5P) satellite was launched on 13 October 2017 to provide the atmospheric composition for atmosphere and climate research. The S5P is a sun-synchronous polar-orbiting satellite providing global daily coverage. The TROPOMI swath is 2600 km wide, and the ground resolution for most data products is 7.2x3.5 km2 (5.6x3.5 km2 since 6 August 2019) at nadir. The Finnish Meteorological Institute (FMI) is responsible for the development and processing of the TROPOMI Surface Ultraviolet (UV) Radiation Product which includes 36 UV parameters in total. Ground-based data from 25 sites located in arctic, subarctic, temperate, equatorial and antarctic areas were used for validation of TROPOMI overpass irradiance at 305, 310, 324 and 380 nm, overpass erythemally weighted dose rate / UV index and erythemally weighted daily dose for the period from 1 January 2018 to 31 August 2019. The validation results showed that for most sites 60–80% of TROPOMI data was within ±20% from ground-based data for snow free surface conditions. The median relative differences to ground-based measurements of TROPOMI snow free surface daily doses were within ±10% and ±5% at two thirds and at half of the sites, respectively. At several sites more than 90% of clear sky TROPOMI data were within ±20% from ground-based measurements. Generally median relative differences between TROPOMI data and ground-based measurements were a little biased towards negative values, but at high latitudes where nonhomogeneous topography and albedo/snow conditions occurred, the negative bias was exceptionally high, from -30% to -65%. Positive biases of 10–15% were also found for mountainous sites due to challenging topography. The TROPOMI Surface UV Radiation Product includes quality flags to detect increased uncertainties in the data due to heterogeneous surface albedo and rough terrain which can be used to filter the data retrieved under challenging conditions

Archeohandi: protocol for a national disabilities database in archaeology in France

The archaeology of disability is a relatively recent and little-known approach in France. While the study of palaeopathology now goes hand in hand with funerary archaeology and osteoarchaeology, the French study of disabilities and disabling pathologies remains marginal and unevenly treated, depending on location, chronology and researcher’s interest. This paper focuses on highlighting the compatibility between this new research area, the obligations of osteoarchaeology, and the benefits of developing a national, diachronic, and interdisciplinary study. A database is designed within an interpretive, consensual framework, that can be adapted to overcome limitations and promote open-minded research on the care of the disabled in their own communities. A preliminary category selection of disabling pathologies has been made. These are trepanation, completely edentulous and/or compensating denture, neuronal impairment, severe scoliosis, Paget's disease, Diffuse Idiopathic Skeletal Hyperostosis (DISH), rickets, dwarfism, infectious diseases, unreduced fracture, amputation, severe degenerative disease and others. This list has been critically reviewed by experts in the field; it will evolve in a somewhat Darwinian fashion. Our database is hosted on the Huma-Num platform, with a management interface and quick access based on multiple tabs. The data includes information about archaeological operations, subjects, and pathologies; it is complemented by pictorial data stored on the Nakala platform. The development involved creating a prototype using HTML, CSS, JavaScript, SQL, and PHP, with features to display, add, modify, and delete operations and subjects. Enhancements have been made, including search optimization, charts, and the ability to export data in CSV format. The database, whose administrative interface can be accessed at archeohandi.huma-num.fr, contains so far 211 existing operations with a total of 1232 registered subjects spread throughout metropolitan France. These initial data reveal numerous research perspectives in osteoarchaeology that can be combined with other research topics, such as virtual reality

Les contremarques au tigre sur les monnaies napoléoniennes

Summary. — Several Napoleonic coins were overstruck with what present-day numismatists generally call an owl's head. This was thought to be a product of modern fantasy applied to the coins a century or so after the Napoleonic period. Forty-seven specimens have been collected. These show beyond any doubt that this was no late fantasy, but rather a mark of execratio made in 1815 which referred to Napoleon the Tiger (now confined in a cage). There is no connection here with the Chouans of Vendée as it is claimed in some recent catalogues.de Callataÿ François, Forestier Jean-Baptiste. Les contremarques au tigre sur les monnaies napoléoniennes. In: Revue numismatique, 6e série - Tome 160, année 2004 pp. 343-358

Lettres des représentants Lambert, Le Carpentier, Du Roy, Alquier et Forestier, en mission dans les départements et aux armées, qui applaudissent aux mesures prises par la Convention dans la journée du 9 et 10 thermidor, lors de la séance du 24 thermidor an II (11 août 1794)

Lambert Charles, Le Carpentier Jean-Baptiste, Duroy Jean-Michel, Alquier Charles-Jean, Forestier Pierre Jacques. Lettres des représentants Lambert, Le Carpentier, Du Roy, Alquier et Forestier, en mission dans les départements et aux armées, qui applaudissent aux mesures prises par la Convention dans la journée du 9 et 10 thermidor, lors de la séance du 24 thermidor an II (11 août 1794). In: Archives Parlementaires de 1787 à 1860 - Première série (1787-1799) Tome XCIV - Du 13 thermidor au 25 thermidor an II (31 juillet au 12 août 1794) Paris : Librairie Administrative P. Dupont, 1985. pp. 466-469

Discussion des paragraphes 3 et 4 de l'article premier sur la loi des émigrés, lors de la séance du 21 fructidor an II (7 septembre 1794)

Pelet Jean, Carrier Jean-Baptiste, Forestier Pierre-Jacques, Genissieu Jean-Joseph-Victor, Eschassériaux (Ainé) Joseph, Rühl Philipp jakob, Duquesnoy Adrien-Cyprien. Discussion des paragraphes 3 et 4 de l'article premier sur la loi des émigrés, lors de la séance du 21 fructidor an II (7 septembre 1794). In: Archives Parlementaires de 1787 à 1860 - Première série (1787-1799) Tome XCVI - Du 10 fructidor au 22 fructidor an II (27 août au 8 septembre 1794) Paris : CNRS éditions, 1990. pp. 344-345

Discussion des paragraphes 3 et 4 de l'article premier sur la loi des émigrés, lors de la séance du 21 fructidor an II (7 septembre 1794)

Pelet Jean, Carrier Jean-Baptiste, Forestier Pierre-Jacques, Genissieu Jean-Joseph-Victor, Eschassériaux (Ainé) Joseph, Rühl Philipp jakob, Duquesnoy Adrien-Cyprien. Discussion des paragraphes 3 et 4 de l'article premier sur la loi des émigrés, lors de la séance du 21 fructidor an II (7 septembre 1794). In: Archives Parlementaires de 1787 à 1860 - Première série (1787-1799) Tome XCVI - Du 10 fructidor au 22 fructidor an II (27 août au 8 septembre 1794) Paris : CNRS éditions, 1990. pp. 344-345

A CRENOBALNEOTERAPIA NA FRANÇA: VISÃO GERAL

Après un bref historique, il s’agit de décrire le thermalisme français avec ses différentes sources et stations et les indications d’une cure thermale prises en charge par le système de soins.Após uma breve história, descreve-sea balneoterapia francesa a partir das diferentes fontes e estações termais e as respectivas indicações de tratamentos financiadas pelo sistema público de saúde