3 research outputs found
La gestion des mammifÚres exotiques envahissants dans les collectivités françaises d'Outre-mer
La gestion des mammifÚres exotiques envahissants dans les collectivités françaises d'Outre-mer. 38. Colloque Francophone de Mammalogi
Rapport d'activité 2020-2021 de l'Observatoire des Tortues Marines de France métropolitaine et de Saint-Pierre-et-Miquelon
Renewed under the Decree of December 30, 2020, the Marine Turtle Observatory of mainland France and St-Pierre-et-Miquelon consists of three Marine Turtle Networks: the RĂ©seau Tortues Marines Atlantique Est (RTMAE) coordinated by the Centre d'Etudes et de Soins pour les Tortues Marines de l'Aquarium La Rochelle, the RĂ©seau Tortues Marines de MĂ©diterranĂ©e Française (RTMMF) coordinated by the SociĂ©tĂ© HerpĂ©tologique de France and the RĂ©seau Tortues Marines de St-Pierre-et-Miquelon, coordinated by the DTAM. The RTMAE has recorded 98 strandings/accidental captures/entanglements/opportunistic sightings at sea in 2020 and 68 in 2021. The RTMMF recorded 213 strandings/accidental captures/at-sea sightings in 2020, and 67 in 2021. The RTSPM recorded 13 opportunistic sightings at sea in 2021. Four species of sea turtle were observed in 2020 and 2021 on the coast of mainland France: Leatherback turtles (n=66), Loggerhead turtles (n=214), Kemp's ridleys (n=16) and Green turtles (n=3); in 2021, Loggerhead turtles (n=72), Leatherback turtles (n=54), Kemp's ridleys (n=3) and Green turtles (n=1). In Saint-Pierre-et-Miquelon, only Leatherback Turtles were observed. The temporal distribution of strandings recorded on the Channel-Atlantic coast shows a peak in January and February 2020, while in 2021 sightings took place mainly from October to December. On the Mediterranean coast, strandings were mainly recorded between April and August in 2020, and between February and August in 2021. Accidental captures/entanglements were observed throughout the year. On the Channel-Atlantic coast, the standard curved length of Leatherback turtles measured (n=22) averaged 140.6 cm. Loggerhead turtles measured (n=13) had an average curve length of 32.9 cm, while loggerhead turtles measured on the Mediterranean coast (n=65) had an average standard curve length of 52 cm. The main morbidity observed in the Channel-Atlantic region was hypothermia, and it was due to interactions with fishing activities in the Mediterranean.RenouvelĂ© dans le cadre de lâarrĂȘtĂ© du 30 dĂ©cembre 2020, lâObservatoire des Tortues Marines de France mĂ©tropolitaine et de St-Pierre-et-Miquelon consiste en trois RĂ©seaux Tortues Marines : le RĂ©seau Tortues Marines Atlantique Est (RTMAE) coordonnĂ© par le Centre dâEtudes et de Soins pour les Tortues Marines de lâAquarium La Rochelle, le RĂ©seau Tortues Marines de MĂ©diterranĂ©e Française (RTMMF) coordonnĂ© par la SociĂ©tĂ© HerpĂ©tologique de France et le RĂ©seau Tortues Marines de St-Pierre-et-Miquelon, coordonnĂ© par la DTAM. Le RTMAE, a enregistrĂ© 98 Ă©chouages/captures accidentelles/enchevĂȘtrements/observations opportunistes en mer en 2020 et 68 en 2021. Le RTMMF a rĂ©coltĂ© 213 Ă©chouages/captures accidentelles/observations en mer en 2020, et 67 en 2021. Le RTSPM a recensĂ© 13 observations en mer opportunistes en 2021. Quatre espĂšces de tortues marines ont Ă©tĂ© observĂ©es en 2020 et en 2021 sur le littoral de France mĂ©tropolitaine : Tortue luth (n=66), Tortue caouanne (n=214), Tortue de Kemp (n=16) et Tortue verte (n=3) ; En 2021, Tortues Caouannes (n=72), Tortues luth (n=54), Tortues de Kemp (n=3) et Tortues vertes (n=1). A Saint-Pierre-et-Miquelon, seules des Tortues Luth ont Ă©tĂ© observĂ©es. La distribution temporelle des Ă©chouages enregistrĂ©s sur la façade Manche-Atlantique permet dâobserver un pic au mois de janvier et de fĂ©vrier 2020, tandis quâen 2021 les observations ont eu lieu principalement dâoctobre Ă dĂ©cembre. Sur la façade mĂ©diterranĂ©enne, les Ă©chouages ont Ă©tĂ© majoritairement rĂ©pertoriĂ©s entre les mois dâavril et dâaoĂ»t en 2020 et entre fĂ©vrier et aoĂ»t en 2021. Les captures accidentelles/enchevĂȘtrements ont Ă©tĂ© observĂ©es toute lâannĂ©e. Sur la façade Manche-Atlantique, la longueur courbe standard des Tortues luth mesurĂ©es (n=22) est en moyenne de 140,6 cm. Les Tortues caouannes mesurĂ©es (n=13) avaient une longueur courbe de 32,9 cm en moyenne tandis que les Tortues caouannes mesurĂ©es sur la façade mĂ©diterranĂ©enne (n=65) avaient une longueur courbe standard moyenne de 52 cm en moyenne. La morbiditĂ© principale observĂ©e en Manche-Atlantique est lâhypothermie et tient aux interactions avec les activitĂ©s de pĂȘche en MĂ©diterranĂ©e
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
International audienceBackground: The most common inherited peripheral neuropathy is Charcot-Marie-Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known.Methods: The aim of the study was to analyze among a French series of 3,412 patients with inherited peripheral neuropathy (IPN), the ones who also suffer from hearing loss, to establish phenotype-genotype correlations. An NGS strategy for IPN one side and nonsyndromic hearing loss (NSHL) on the other side, were performed.Results: Hearing loss (HL) was present in only 44 patients (1.30%). The clinical data of 27 patients were usable. Demyelinating neuropathy was diagnosed in 15 cases and axonal neuropathy in 12 cases. HL varied from mild to profound. Five cases of auditory neuropathy were noticed. Diagnosis was made for 60% of these patients. Seven novel pathogenic variants were discovered in five different genes: PRPS1; MPZ; SH3TC2; NEFL; and ABHD12. Two patients with PMP22 variant, had also an additional variant in COCH and MYH14 respectively. No pathogenic variant was found at the DFNB1 locus. Genotype-phenotype correlations do exist, especially with SH3TC2, PRPS1, ABHD12, NEFL, and TRPV4.Conclusion: Involvement of PMP22 is not enough to explain hearing loss in patients suffering from IPN. HL can be due to cochlear impairment and/or auditory nerve dysfunction. HL is certainly underdiagnosed, and should be evaluated in every patient suffering from IPN