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1.
Eur J Med Genet ; 54(3): 284-6, 2011.
Article in English | MEDLINE | ID: mdl-21167328

ABSTRACT

We report a boy with asymmetric crying facies and bilateral absence of the 5th ray of the feet. In addition, craniofacial computed tomography showed a solitary median maxillary central incisor in combination with a narrow apertura piriformis. To our knowledge this intriguing combination of congenital abnormalities has not been described before.


Subject(s)
Abnormalities, Multiple/pathology , Facies , Incisor/abnormalities , Limb Deformities, Congenital/pathology , Nose/abnormalities , Abnormalities, Multiple/genetics , Crying , Humans , Imaging, Three-Dimensional , Infant , Karyotyping , Male , Tomography, X-Ray Computed/methods
2.
Int J Radiat Biol ; 59(4): 1053-68, 1991 Apr.
Article in English | MEDLINE | ID: mdl-1674271

ABSTRACT

The effect of irradiation on cardiac function was assessed using an isolated working rat heart preparation. The animals were given single doses of X-rays in the range 15-30 Gy to their hearts. Cardiac output (CO = aortic flow + coronary flow), heart weight and body weight were followed for a period of 10 months after treatment. Irradiation led to a decrease in cardiac function. This reduction was dose-dependent and progressive with time after treatment. The shape of the Frank-Starling curves constructed for irradiated hearts suggests a loss of contractile function of the myocardium. Coronary flow rates measured in 'working' hearts and in 'Langendorff' hearts were not significantly changed by the irradiation treatment. The isolated working rat heart preparation proved to be a simple and suitable animal model for the investigation of irradiation-induced cardiotoxicity.


Subject(s)
Heart/radiation effects , Animals , Body Weight/radiation effects , Cardiac Output/radiation effects , Coronary Circulation/radiation effects , Dose-Response Relationship, Radiation , Female , Heart/physiology , In Vitro Techniques , Organ Size/radiation effects , Perfusion/instrumentation , Perfusion/methods , Rats , Rats, Inbred Strains , Time Factors
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