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Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
2 mai 2024 02:00 - SFR Icat
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confront this challenging diagnosis and manage these patients throughout their adulthood. However, long-term follow-up data from large cohorts of CMS patients are lacking and the long-term prognosis of these patients is largely unknown. We report the clinical...
Elimination study of intact lipid nanocapsules after intravenous rat administration
1 mai 2024 02:00 - SFR Icat
Aim: The present study investigated renal elimination after intravenous administration of four different formulations of lipid nanocapsules (LNCs) containing dyes adapted to Förster resonance energy transfer (FRET-LNCs). Materials & methods: FRET-LNCs of 85 or 50 nm with or without a pegylated surface were injected and collected in the blood or urine of rats at different time points. Quantitative analysis was performed to measure intact FRET-LNCs. Results & conclusion: No intact LNCs were found...
Sexual dysfunction in cystic fibrosis
30 avr. 2024 02:00 - SFR Icat
CONCLUSION: The prevalence of sexual disorders is relatively high in males and females with cystic fibrosis. Therefore, it seems important to train specialist teams to address the issue of sexuality without embarrassment, and to encourage them to seek out and treat faecal incontinence, which is associated with greater severity or frequency of these symptoms.
Pruriginous vesicular eruption associated with nivolumab immunotherapy: A case of dermatitis herpetiformis
28 avr. 2024 02:00 - SFR Icat
No abstract
Tele-expertise assessment of chronic wounds by advanced practice dermatology nurses
28 avr. 2024 02:00 - SFR Icat
No abstract
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
27 avr. 2024 02:00 - SFR Icat
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3A or H3-3B...
Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions
26 avr. 2024 02:00 - SFR Icat
Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) containing 108 independent risk loci. In analyses stratified by subtype, 52 regions (78 loci) were associated with clear cell renal cell carcinoma (RCC) and 6 regions (7 loci) with papillary RCC. Notably, we report a variant common in African ancestry individuals ( rs7629500 ) in the 3' untranslated region of VHL, nearly...
Extracellular vesicles: new bullets in the fungal armory
25 avr. 2024 02:00 - SFR Icat
Invasive fungal infections represent millions of deaths per year, but their pathophysiology remains insufficiently understood. Host-fungi interplay has been recently shown to include extracellular vesicles derived from fungi and host infected cells. In this forum article we discuss their emerging role in modulating the host immune response with particular emphasis on their regulatory involvement during Candida albicans infection.
Gut hormone analogues and skeletal health in diabetes and obesity: Evidence from preclinical models
24 avr. 2024 02:00 - SFR Icat
Diabetes mellitus and obesity are rapidly growing worldwide. Aside from metabolic disturbances, these two disorders also affect bone with a higher prevalence of bone fractures. In the last decade, a growing body of evidence suggested that several gut hormones, including ghrelin, gastrin, glucose-dependent insulinotropic polypeptide (GIP), glucagon, and glucagon-like peptide-1 and 2 (GLP-1 and GLP-2, respectively) may affect bone physiology. Several gut hormone analogues have been developed for...
The associations of psychosocial work exposures with suicidal ideation in the national French SUMER study
24 avr. 2024 02:00 - SFR Icat
CONCLUSION: Psychosocial work exposures played a major role in suicidal ideation. More research may be needed to confirm our results, as suicidal ideation is an important warning signal for suicide prevention. More primary prevention towards the psychosocial work environment may be useful to reduce suicidal ideation at the workplace.
Synthetic cathinones in drug-facilitated sexual assault: A case report involving the novel generation substituted cathinone N-ethylpentedrone and a review of the literature
24 avr. 2024 02:00 - SFR Icat
The use of 3,4-methylenedioxymethamphetamine (MDMA) in drug-facilitated sexual assault (DFSA) is not uncommon. Indeed, the effects associated with the use of this substance may lead to disinhibition. Several synthetic cathinones, such as mephedrone or methylone, also possess marked entactogenic properties. This manuscript aims to (i) report a DFSA case involving a novel cathinone derivative, namely N-ethyl-pentedrone (NEPD) and (ii) review previously reported DFSA cases involving synthetic...
Literature highlights
23 avr. 2024 02:00 - SFR Icat
No abstract
Pediatric refractory chronic immune thrombocytopenia: Identification, patients' characteristics, and outcome
23 avr. 2024 02:00 - SFR Icat
Refractory chronic immune thrombocytopenia (r-cITP) is one of the most challenging situations in chronic immune thrombocytopenia (cITP). Pediatric r-cITP is inconsistently defined in literature, contributing to the scarcity of data. Moreover, no evidence is available to guide the choice of treatment. We compared seven definitions of r-cITP including five pediatric definitions in 886 patients with cITP (median [min-max] follow-up 5.3 [1.0-29.3] years). The pediatric definitions identified...
Author Correction: Fungal Colonization of the Airways of Patients with Cystic Fibrosis: The Role of the Environmental Reservoirs
22 avr. 2024 02:00 - SFR Icat
No abstract
Prevalence of major depressive disorder and post-traumatic stress disorder among first-time sleep center attendees
21 avr. 2024 02:00 - SFR Icat
CONCLUSION: Positive screening for MDD and PTSD are frequent in patients who attend sleep centers, especially amongst those presenting with insomnia. Nearly half of the patients with positive screening for MDD or PTSD were not receiving a dedicated pharmacological treatment. These figures emphasize systematic screening for psychiatric disorders in sleep clinics.