129 research outputs found
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is an RNA-mediated disorder caused by a non-coding CTG repeat expansion that, in particular, provokes functional alteration of CUG-binding proteins. As a consequence, several genes with misregulated alternative splicing have been linked to clinical symptoms. In our search for additional molecular mechanisms that would trigger functional defects in DM1, we took advantage of mutant gene-carrying human embryonic stem cell lines to identify differentially expressed genes. Among the different genes found to be misregulated by DM1 mutation, one strongly downregulated gene encodes a transcription factor, ZNF37A. In this paper, we show that this defect in expression, which derives from a loss of RNA stability, is controlled by the RNA-binding protein, CUGBP1, and is associated with impaired myogenesis—a functional defect reminiscent of that observed in DM1. Loss of the ZNF37A protein results in changes in the expression of the subunit α1 of the receptor for the interleukin 13. This suggests that the pathological molecular mechanisms linking ZNF37A and myogenesis may involve the signaling pathway that is known to promote myoblast recruitment during development and regeneratio
Entre microscopie et photographie, l'Université de Louvain découvre la photomicrographie
Alternative Therapeutic Approaches in Sleep-apnea Syndrome
A number of therapeutic alternatives to continuous positive airway pressure (CPAP) and surgery have been proposed to treat sleep apnea syndrome. Nasopharyngeal intubation may provide an immediate, simple and cost-effective means of bypassing upper airway obstruction during sleep. Tolerance is good in small children but is lower, between 30 and 40%, in adults. Clinical improvement is reported by more than half of the patients treated with this device and is confirmed by polysomnography. However, in most of these subjects, breathing during sleep is only partially corrected and sleep remains fragmented. Nasopharyngeal intubation should be proposed in infants, in patients who do not tolerate CPAP or as a therapeutic substitute for CPAP during holidays or traveling. The tongue retaining device and variants of orthodontic appliances have been proposed in order to increase upper airway patency. Tolerance is low, efficacy is usually incomplete and limited to patients with moderate forms of SAS, and long-term follow-ups are scarce. Sleep position training has been advocated as a means of reducing time spent in the supine position. Long-term efficacy has not been proven. Weight loss by caloric restriction or surgical procedures produces a variable improvement of sleep architecture and breathing during sleep. It should be proposed to all patients with SAS, as cure has been achieved in a few patients with the adjunction of weight loss and another treatment modality
From photography to cinematography: recording movement and gait in a neurological context.
The major challenge of photography has been freezing movement, to transform it into a fixed image or series of images. Very soon, photographers became interested in movement itself and tried to use photography as a tool to analyze movement. At the early stages, physicians interested in movement, perhaps surprisingly, made important technical contributions. Mécanisme de la physionomie humaine, by Duchenne, the first book with physiological experiments illustrated by photographs, is a landmark in this historical development. At the Salpêtrière, thanks to Charcot, photography officially entered clinical neurology. Medical journals with photographs were actively developed by Bourneville. Londe established a clinical photographic laboratory and published the first book on medical photography. The study of animal and human movement by Muybridge and Marey in the 1880s led to chronophotography and later cinematography. Clinicians such as Dercum and Richer took advantage of these new techniques to study pathological movement and gait in neurological diseases
Alternative Therapeutic Approaches in Sleep Apnea Syndrome
A number of therapeutic alternatives to continuous positive airway pressure (CPAP) and surgery have been proposed to treat sleep apnea syndrome. Nasopharyngeal intubation may provide an immediate, simple and cost-effective means of bypassing upper airway obstruction during sleep. Tolerance is good in small children but is lower, between 30 and 40%, in adults. Clinical improvement is reported by more than half of the patients treated with this device and is confirmed by polysomnography. However, in most of these subjects, breathing during sleep is only partially corrected and sleep remains fragmented. Nasopharyngeal intubation should be proposed in infants, in patients who do not tolerate CPAP or as a therapeutic substitute for CPAP during holidays or traveling. The tongue retaining device and variants of orthodontic appliances have been proposed in order to increase upper airway patency. Tolerance is low, efficacy is usually incomplete and limited to patients with moderate forms of SAS, and long-term follow-ups are scarce. Sleep position training has been advocated as a means of reducing time spent in the supine position. Long-term efficacy has not been proven. Weight loss by caloric restriction or surgical procedures produces a variable improvement of sleep architecture and breathing during sleep. It should be proposed to all patients with SAS, as cure has been achieved in a few patients with the adjunction of weight loss and another treatment modality
Charcot revisited: the case of Bruegel's chorea.
Since Jean-Martin Charcot's time, Pieter Bruegel has been invoked as a famous contributor to the iconography of chorea. This is based not on a picture by Bruegel himself but on a 19th century engraving declared by Charcot to depict St Vitus' dance or chorea germanorum, a form of mass hysteria. A search through the art history literature did not find chorea or St Vitus' dance as a subject of any of Bruegel's works. However, the picture presented by Charcot appeared to be based on a composition that features a pilgrimage of patients suffering from St John's disease or falling sickness, one of the many names applied to epilepsy. This study traces the history of Charcot's allusions to Bruegel's picture and explores the little-known works--drawings, engravings, and paintings--based on Bruegel's composition in the context of chorea, epilepsy, and hysteria. The conclusion of this study is that while Charcot ignored the precise details of Bruegel's composition, his overall interpretation was correct. Beyond any specific diagnosis, Bruegel's work remains universal, giving a unique and compelling picture of human suffering and of the plight of devoted caregivers
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