Diversity in heritable disorders of connective tissue at a single center.

CONCLUSION: A wide diversity in HDCT was observed at a single center. Therefore, knowledge about the phenotype-genotype correlation in HDCT is still crucial in the diagnosis of this group of diseases, and an improvement in the screening tool will be needed. PMID: 32862725 [PubMed - as supplied by publisher]
Source: Connective Tissue Research - Category: Research Tags: Connect Tissue Res Source Type: research

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The objective of this study was to analyse hospital incidence of osteogenesis imperfecta (OI) in Spanish hospitals and the associated medical costs from a healthcare system perspective.Methods: To this aim, a retrospective multicentre study was designed analysing admission records from patients admitted with OI in specialised care settings in Spain between 2000 and 2017. Direct medical costs were calculated based on the diagnosis-related group-based hospital payment systems, determined by the Spanish Ministry of Health.Results: Overall, 3,747 admissions were reviewed, corresponding to 998 patients, 48.20% of which were mal...
Source: Journal of Medical Economics - Category: Health Management Tags: J Med Econ Source Type: research
CONCLUSIONS: The tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: PEDIATRICS Source Type: research
Source: The Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Source Type: research
Authors: Mussell EA, Jardaly A, Gilbert SR Abstract BACKGROUND: Flexible intramedullary nailing (FIMN) is relatively contraindicated for pediatric length unstable femoral fractures. AIM: To evaluate FIMN treatment outcomes for pediatric diaphyseal length unstable femoral fractures in patients aged 5 to 13 years. METHODS: This retrospective study includes pediatric patients (age range 5-13 years) who received operative treatment for a diaphyseal femoral fracture at a single institution between 2013 and 2019. Length unstable femur fractures treated with FIMN were compared to treatment with other fixation meth...
Source: World Journal of Orthopaedics - Category: Orthopaedics Tags: World J Orthop Source Type: research
Publication date: October 2020Source: Canadian Journal of Cardiology, Volume 36, Issue 10, SupplementAuthor(s): M. Elbatarny, C. David, J. Chung, M. Lafreniere-Roula, T. David, M. Ouzounian
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
ConclusionRespiratory symptoms negatively impact both psychosocial wellbeing in the OI population and limit daily physical activity. These limitations occur irrespective of their OI type, age, stature, or scoliosis and reflect the dramatic impact of respiratory status on quality of life for people with OI. Future studies should examine the etiology of respiratory insufficiency in this population so guidelines for management can be established.
Source: Archives of Orthopaedic and Trauma Surgery - Category: Orthopaedics Source Type: research
Publication date: Available online 28 September 2020Source: International Journal of Surgery Case ReportsAuthor(s): Singkat Dohar Apul Lumban Tobing, Danar Lukman Akbar
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
Aortic abnormalities on CXR Right aortic arch: Side of aortic arch is recognized by the indentation of tracheal air shadow. Normally it is on the left side as it is left aortic arch. In right aortic arch, the indentation is on the right side. Right aortic arch may be seen in tetralogy of Fallot and truncus arteriosus. Ascending aorta: Ascending aorta is seen well just above the right atrial contour on the right cardiac border when it is dilated. Dilated ascending aorta can occur in: Post stenotic dilatation in aortic stenosis Annuloaortic ectasia in Marfan syndrome Ascending aortic aneurysm Aortic knuckle: Intimal calci...
Source: Cardiophile MD - Category: Cardiology Authors: Tags: HBC 3 sign in coarctation of aorta Antler sign Ascending aorta calcium sign cephalization cottage loaf sign E sign in coarctation of aorta Figure of 8 sign inverted moustache sign knuckle sign Palla’s sign Redistribution Revers Source Type: blogs
Purpose of review The goal of this review is to give an overview of diagnosis and up-to-date management of major pediatric metabolic bone diseases that are associated with bone fragility, including nutritional rickets, hypophosphatemic rickets, osteogenesis imperfecta, Ehlers--Danlos syndrome, Marfan's syndrome, hypophosphatasia, osteopetrosis and skeletal fluorosis. Recent findings During the past decade, a number of advanced treatment options have been introduced and shown to be an effective treatment in many metabolic bone disorders, such as burosumab for hypophosphatemic rickets and asfotase alfa for hypophosphata...
Source: Current Opinion in Pediatrics - Category: Pediatrics Tags: ENDOCRINOLOGY AND METABOLISM: Edited by Sally Radovick Source Type: research
[Peripheral artery disease in patients younger than 50 years old: Which etiology?] Ann Cardiol Angeiol (Paris). 2016 Jun 16; Authors: Cotard S, Nouni A, Jaquinandi V, Gladu G, Kaladji A, Mahé G Abstract Peripheral arterial disease (PAD) encompasses disease of all arteries of the body except the coronary arteries. The main etiology whatever the patient's age is atherosclerosis. Different etiologies can induce PAD especially when patients are younger than 50 years old and have no cardiovascular risk factors (smoking, hypertension, diabetes…). PAD that appears before 50 years...
Source: Annales de Cardiologie et d'Angeiologie - Category: Cardiology Authors: Tags: Ann Cardiol Angeiol (Paris) Source Type: research
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