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Patho
Type de publication:
Article de JournalSource:
Journal of the Formosan Medical Association (2006)URL:
http://www.ncbi.nlm.nih.gov/pubmed/16801035?ordinalpos=7&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSumKeywords:
aortic dilatation; joint hypermobility; skin hyperextensibility; skin fragility; ehlers-danlos syndromeAbstract:
BACKGROUND/PURPOSE: Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous connective tissue disorder characterized by hyperextensibility of the skin, hypermobility of joints, and tissue fragility. This retrospective study analyzed the characteristics of patients with EDS. METHODS: Review of medical records identified 16 cases of EDS during the study period from November 1997 to October 2002. Data on these patients, including clinical presentation, physical examinations, Beighton score, echocardiogram, bone mineral density findings and clinical classification, were analyzed. RESULTS: The age of the patients ranged from 13 months to 36 years. All patients had skin hyperextensibility, joint hypermobility (Beighton score > 5 points), and tissue fragility. Complete bone mineral density study was performed in 11 patients and revealed that all had osteoporosis. Echocardiographic study was performed in 14 patients and showed aortic root dilatation/valve prolapse in 6/14 (43%). Other common features of EDS had the following prevalence: premature rupture of membranes in 3/16 (19%); prematurity in 3/16 (19%); neonatal hypotonia in 5/16 (31%); congenital hip dislocation in 3/16 (19%); unstable gait in 7/16 (44%); bone fracture(s) in 3/16 (19%); motor delay in 3/16 (19%); scoliosis in 3/16 (19%); short stature in 7/16 (44%); and positive family history in 8/16 (50%). All patients had a Beighton score of more than 5 points. CONCLUSION: The results of this study emphasize the importance of echocardiographic monitoring of aortic size and valvular condition, and assessment of bone mineral density in patients with EDS. Clinical evaluation and counseling should be undertaken prior to pregnancy in patients with EDS because of the risk from labor and vaginal delivery in patients with type IV and the inability to distinguish EDS subtypes in Taiwan due to the unavailability of biochemical assay or molecular mutation analysis as part of standard care.
Notes:
Intéressant et même important à connaître...
Type de publication:
Article de JournalSource:
The Isreal Medical Association Journal (2008)URL:
http://www.ncbi.nlm.nih.gov/pubmed/18494229?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSumKeywords:
marfan syndrome; protusio acetabuli; kyphosisAbstract:
N/A
Notes:
Article pour voir avec plus de précisions les manifestation squelettiques du syndrome de Marfan. Nous sommes à l'aise avec les scolioses mais cependant, la protusio acetabuli est une condition plus particulière qui vaut la peine qu'on la connaisse afin de pouvoir diriger adéquatement le patient qui viendra nous voir avec cette condition. À noter que la plupart des personnes atteintes sont diagnostiquées avant l'âge de 10 ans mais il peut arriver que le diagnostique soit porté beaucoup plus tard en raison du caractère évolutif des manifestation squelettiques.
Type de publication:
Article de JournalSource:
The Israel Medical Association Journal (2008)URL:
http://www.ncbi.nlm.nih.gov/pubmed/18494226?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSumKeywords:
marfan syndrome; kyphoscoliosis; aortic tear; dural ectasiaAbstract:
N/A
Notes:
Bon article pour savoir à quoi ressemble le syndrome de Marfan. En passant, pour ceux qui ne savant pas, Joey Ramones était atteint de ce syndrome... ce qui explique sa silhouette elancée.
Type de publication:
Article de JournalSource:
American journal of clinical nutrition (2006)URL:
http://www.ncbi.nlm.nih.gov/pubmed/16600922?ordinalpos=59&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSumKeywords:
cachexia; pathogenesis; sarcopenia; weight lossAbstract:
Cachexia causes weight loss and increased mortality. It affects more than 5 million persons in the United States. Other causes of weight loss include anorexia, sarcopenia, and dehydration. The pathophysiology of cachexia is reviewed in this article. The major cause appears to be cytokine excess. Other potential mediators include testosterone and insulin-like growth factor I deficiency, excess myostatin, and excess glucocorticoids. Numerous diseases can result in cachexia, each by a slightly different mechanism. Both nutritional support and orexigenic agents play a role in the management of cachexia.
Notes:
intéressant
Billets récents
Bibliographie
- Clinical features of Ehlers-Danlos syndrome
- Evaluation of acute headaches in adults
- Medial calcaneal nerve entrapment as a cause for chronic heel pain
- Triple-hop distance as a valid predictor of lower limb strength and power
- A review of plantar heel pain of neural origin: differential diagnosis and management
Commentaires
- Voilà qu'Hélène Baribeau
- Il semblerait que le fait de
- Ouf! Ouin... Ça me
- Merci Hougo pour ton
- je tiens à confirmer l'avis