OBJECTIVES To investigate the effects of transvalvar flow rate on aortic valve resistance and valve area after percutaneous transvenous balloon dilatation of the mitral valve in a homogeneous group of patients with rheumatic heart disease. DESIGN Retrospective analysis of 12 patients with combined aortic and mitral stenosis who had undergone balloon dilatation of the mitral valve over a perio...

Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with ...

OBJECTIVE To examine the practicability and accuracy of Doppler echocardiographic methods in determining aortic valve area. METHODS Aortic valve areas determined by three methods using Doppler echocardiography (applying the continuity equation and the modified Gorlin formula using data from Doppler echocardiography and right heart catheterisation) were compared with values obtained by heart c...

Gorlin's syndrome is an autosomal dominant disorder, mainly characterized by the presence of multiple and early-onset basal cell carcinomas, odontogenic keratocysts and palmoplantar pits. We describe the case of a patient with clinical and imaging features of Gorlin syndrome, and highlight the role of dermoscopy in the early detection of basal cell carcinomas. In addition, we discuss the dermos...

AIM To identify a gene linking microphthalmia with cyst with early onset medulloblastoma. METHODS Mutation analysis of the PTCH gene. RESULTS A mutation in exon 10 of the PTCH gene was identified, confirming a diagnosis of Gorlin syndrome. CONCLUSIONS This is the first genetically identified mutation giving rise to microphthalmia with cyst and provides a valuable link in the eye developme...

tion of latent function in acutely ischemic myocardium in the dog. Comparison of pharmacologic inotropic stimulation and post-extrasystolic potentiation. Circ Res 36: 490, 1975 14. Suko J, Ueba Y, Chidsey CA: Intracellular calcium and myocardial contractility. Circ Res 27: 227, 1970 15. Horn HR, Teichholz LE, Cohn PF, Herman MV, Gorlin R: Augmentation of left ventricular contraction pattern in ...

'Life is infinitely stranger than anything which the mind of Man could invent. We could not dare to conceive the things which are really mere commonplaces of existence. Ifwe could fly out of that window hand in hand, hover over this great city, gently remove the roofs and peep in at the queer things which are going on; the strange coincidences, the plannings, the cross-purposes, the wonderful c...

Brock (1957, 1959) using the term "Functional obstruction of the left ventricle" was the first to describe muscular subaortic stenosis. Since then, a number of reports (Bercu et al., 1958; Morrow and Braunwald, 1959; Brent et a!., 1960; Goodwin et al., 1960; Braunwald et al., 1960; Brachfeld and Gorlin, 1959, 1961; Pare et al., 1961; Boiteau and Allenstein, 1961) have appeared concerning this c...

Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant hereditary disorder; which is characterized by numerous basal cell carcinomas, maxillary keratocysts and bones malformations. It results from a mutation of the PATCHED gene. The estimate incidence for a general population is 1/50000 to 1/150000. We present a 30 year-old woman, with no similar famil...

CLINICAL CASE A 77 year-old male patient with Parkinson's disease and senile dementia had many facial basal cell carcinomas and an ectropion of the left eye. When he experienced respiratory difficulty he was diagnosed to have an ameloblastoma in left nostril requiring surgery. DISCUSSION Gorlin syndrome is an autosomal dominant condition characterized by basal cell carcinomas, and skeletal an...