RFC1 gene intronic repeat expansion and unexplained chronic cough: A pathophysiological conundrum

International audienceTake home message: RFC1 gene intronic expansions as a cause of isolated chronic cough

Female fruit flies copy the acceptance, but not the rejection, of a mate

Acceptance and avoidance can be socially transmitted, especially in the case of mate choice. When a Drosophila melanogaster female observes a conspecific female (called demonstrator female) choosing to mate with one of two males, the former female (called observer female) can memorize and copy the latter female’s choice. Traditionally in mate-copying experiments, demonstrations provide two types of information to observer females, namely, the acceptance (positive) of one male and the rejection of the other male (negative). To disentangle the respective roles of positive and negative information in Drosophila mate copying, we performed experiments in which demonstrations provided only one type of information at a time. We found that positive information alone is sufficient to trigger mate copying. Observer females preferred males of phenotype A after watching a female mating with a male of phenotype A in the absence of any other male. Contrastingly, negative information alone (provided by a demonstrator female actively rejecting a male of phenotype B) did not affect future observer females’ mate choice. These results suggest that the informative part of demonstrations in Drosophila mate-copying experiments lies mainly, if not exclusively, in the positive information provided by the copulation with a given male. We discuss the reasons for such a result and suggest that Drosophila females learn to prefer the successful males, implying that the underlying learning mechanisms may be shared with those of appetitive memory in non-social associative learning

coronaires

Les révolutions successives ont marqué l’histoire de la cardiologie interventionnelle. La première fut l’introduction de l’angioplastie percutanée par ballonnet, utilisée en alternative à la chirurgie pour la revascularisation coronaire, suivie de l’invention des premiers stents métalliques nus (bare metal stent ou BMS) et leur amélioration en stents dits actifs à élution de médicaments (drug-eluting stent ou DES), réduisant drastiquement le taux de re-sténoses observé avec les BMS. L’amélioration des plates-formes et des polymères des stents (biocompatibles ou résorbables) a permis de réduire le taux de thromboses tardives de stent à des niveaux extrêmement bas. Le développement de stents auto-expansibles est actuellement proposé pour lutter contre le problème de mauvaise apposition tardive aux parois du vaisseau dans l’infarctus du myocarde. Enfin, les nouveaux stents intégralement biorésorbables, pouvant être combinés à des molécules actives antiprolifératives, deviendront très probablement les stents de choix pour la revascularisation coronaire dans un futur proche

Clinical features and maternal and fetal outcomes in women with Guillain-Barré syndrome in pregnancy

International audienceBackground: Guillain–Barre syndrome (GBS) is an acute inflammatory polyradiculoneuropathy rarely observed during pregnancy. Methods: In this retrospective study, we analyzed the characteristics of pregnant women with GBS (pGBS) diagnosed in French University Hospitals in the 2002–2022 period and compared them with a reference group of same-age non-pregnant women with GBS (npGBS) identified in the same institutions & timeframe. Results: We identified 16 pGBS cases. Median age was 31 years (28–36), and GBS developed in the 1st, 2nd, and 3rd trimester in 31%, 31% and 38% of cases respectively. A previous infection was identified in six cases (37%), GBS was demyelinating in nine cases (56%), and four patients (25%) needed respiratory assistance. Fifteen patients (94%) were treated with intravenous immunoglobulins, and neurological recovery was complete in all cases (100%). Unscheduled caesarean section was needed in five cases (31%), and two fetuses (12.5%) died because of cytomegalovirus (CMV) infection (1 case) and HELLP (Hemolysis, Elevated Liver enzymes and Low Platelets) syndrome (1 case). In comparison with a reference group of 18 npGBS women with a median age of 30 years (27–33), pGBS patients more frequently had CMV infection (31% vs 11%), had a prolonged delay between GBS onset and hospital admission (delay > 7 days: 57% vs 12%), more often needed ICU admission (56% vs 33%) and respiratory assistance (25% vs 11%), and more often presented with treatment-related fluctuations (37% vs 0%). Conclusions: This study shows GBS during pregnancy is a severe maternal condition with significant fetal mortality

Charcot‐Marie‐Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: an international multicentric retrospective study

Charcot-Marie-Tooth (CMT) disease, an untreatable hereditary polyneuropathy, may mimic chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), a treatable neuropathy. In this retrospective study, we analyzed the characteristics of CMT patients misdiagnosed as CIDP at 16 university hospitals in three countries, compared these patients with a reference group of CIDP patients, and estimated the cost of misdiagnosis. Among 1104 CIDP cases, we identified 35 CMT patients misdiagnosed as CIDP (3.2%). All were initially diagnosed with definite or probable CIDP (European Federation of Neurological Societies/Peripheral Nerve Society criteria), and mutations in PMP22, MPZ, and 10 other CMT genes were found in 34%, 31%, and 35% of cases, respectively. In comparison with a reference group of 35 CIDP patients, CMT patients were younger (median age at disease onset = 39 vs. 56 years) and more frequently had motor weakness at disease onset (80% vs. 29%), hearing loss (14% vs. 0%), normal brachial plexus imaging (70% vs. 40%), lower cerebrospinal fluid protein content (median = 0.5 vs. 0.8 g/L), and lower treatment response (20% vs. 69%). Treatment cost in these 35 misdiagnosed patients was estimated at 4.6 million euros (M€), whereas the cost of CMT genetic analysis in 1104 patients was estimated at 2.7 M€. In this study, 35 of 1104 (3.2%) patients initially diagnosed with CIDP had CMT. Importantly, the cost of treating these 35 misdiagnosed patients was significantly higher than the cost of performing CMT genetic analysis in 1104 patients (4.6 M€ vs. 2.7 M€), suggesting that CMT genetic investigations should be more widely used before diagnosing CIDP

Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.

Charcot-Marie-Tooth (CMT) disease, an untreatable hereditary polyneuropathy, may mimic chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), a treatable neuropathy. In this retrospective study, we analyzed the characteristics of CMT patients misdiagnosed as CIDP at 16 university hospitals in three countries, compared these patients with a reference group of CIDP patients, and estimated the cost of misdiagnosis. Among 1104 CIDP cases, we identified 35 CMT patients misdiagnosed as CIDP (3.2%). All were initially diagnosed with definite or probable CIDP (European Federation of Neurological Societies/Peripheral Nerve Society criteria), and mutations in PMP22, MPZ, and 10 other CMT genes were found in 34%, 31%, and 35% of cases, respectively. In comparison with a reference group of 35 CIDP patients, CMT patients were younger (median age at disease onset = 39 vs. 56 years) and more frequently had motor weakness at disease onset (80% vs. 29%), hearing loss (14% vs. 0%), normal brachial plexus imaging (70% vs. 40%), lower cerebrospinal fluid protein content (median = 0.5 vs. 0.8 g/L), and lower treatment response (20% vs. 69%). Treatment cost in these 35 misdiagnosed patients was estimated at 4.6 million euros (M€), whereas the cost of CMT genetic analysis in 1104 patients was estimated at 2.7 M€. In this study, 35 of 1104 (3.2%) patients initially diagnosed with CIDP had CMT. Importantly, the cost of treating these 35 misdiagnosed patients was significantly higher than the cost of performing CMT genetic analysis in 1104 patients (4.6 M€ vs. 2.7 M€), suggesting that CMT genetic investigations should be more widely used before diagnosing CIDP