klippel-feil syndrome is known by the classic triad of shortness of the neck , limitation of neck movements, and a low posterior hairline. there are often accompanying cervical spinal abnormalities such as kyphoscoliosis as well as urogenital and cardiac abnormalities. presented here we have a 20 year old young man with hypoesthesia and decreased motor function in the right hand. the problem be...

PURPOSE To assess the follow-up of patients with sarcoidosis and myocardial MRI abnormalities. MATERIALS AND METHODS Twelve patients with histologically proven sarcoidosis and highly suspected cardiac involvement underwent initial and 12-month follow-up cardiac assessment including cardiac MRI (T2-weighted, functional gradient echo, and T1-weighted gadolinium-diethylenetriamine penta-acetic a...

BACKGROUND Myocardial perfusion imaging (MPI) provides highly valuable information for risk stratification and determination of optimal clinical management. The goal of the present study was to assess the prognostic value of myocardial perfusion SPECT for the prediction of future cardiac events in Asian population. METHODS Five hundred and ten consecutive patients, who had undergone myocardia...

Nine patients with the Marfan syndrome and 40 of their first degree relatives were evaluated for the presence of cardiac, skeletal and ophthalmologic abnormalities. Aortic root dilatation and mitral valve prolapse were sought by echocardiography, and the metacarpal index was calculated from hand X-rays. Abnormalities of all the tests performed were present in all nine index cases, except for on...

morning glory syndrome (mgs) is a rare congenital optic disc anomaly characterized by a funnel-shaped, excavated optic disc surrounded by chorioretinal pigmentary disturbance. the main ophthalomoscopic feature of the mgs is enlarged optic disc with a funnel shaped scleral defect; elevated peripapillary chorioretinal pigmentation; and pale fluffy tissue of glial hyperplasia overlying the optic d...

BACKGROUND Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the ...

OBJECTIVE This study was done to study the prevalence of cardiac manifestations of dengue fever in patients presenting to our hospital and to find out the correlation of cardiac manifestations to warning signs of dengue and severe dengue. METHODS The study was conducted at Sree Gokulam Medical College and Research Foundation, which is a tertiary care hospital, in the Department of Medicine in...