Four probands have high low-density lipoprotein cholesterol (LDL-C) levels, ranging from 14.65 to 27.66 mmol/L. Their heterozygous
parents had relatively tow levels. B-mode ultrasound supplemented by Doppler was used to examine aortic/mitral valve structural alterations and carotid intima-media thickness (ITM) in all probands. The ITM values were between 1.2 and 2.3 mm, much higher than the normal value of < 0.8 mm.
Conclusion: Our data demonstrated that all the probands were associated with severe hypercholesterolemia, thick carotid IMT and a low CFVR (coronary flow velocity reserve) value. The novel mutation (C120Y) is a disease causing mutation. (c) 2008 Elsevier B.V. All rights reserved.”
“Study Design. Case report.
Objective. To describe the case of a Klippel-Feil anomaly associated with carotid agenesis.
Summary of Background Data.
Klippel-Feil anomaly is a spinal malformation characterized by fusion Selleck Barasertib of the cervical vertebrae. mTOR inhibitor Four subtypes have been identified for this congenital disorder with different severity of vertebral fusion and different extra-axial anomalies. Most cases are sporadic, although autosomal dominant and autosomal recessive cases are recognized. It can cause neurologic disorders and is associated to vascular abnormalities. However, agenesis of internal carotid and Klippel-Feil syndrome is an unusual association.
Methods. A 49-year-old woman came to our attention for recurrent transitory ischemic attacks presenting with weakness of left limbs associated with sensory abnormalities. Neurologic examination revealed mild left limb weakness and tactile hypoesthesia.
Results. Tipifarnib Brain magnetic resonance (MR) and MR angiography demonstrated absence of the right internal carotid and the
middle right cerebral artery was filled from the basilar artery. Fusion of vertebral bodies was documented at MR and confirmed at spinal CT scan. The day after the admission the neurologic examination became normal. Ticlopidine was then started.
Conclusion. Literature of vascular abnormalities in association with Klippel-Feil syndrome takes the form of anecdotal reports. Aortic coarctation, vertebral artery dissection, aneurysms, persistent trigeminal artery, and abnormal origin of internal carotid are described. An unusual association of carotid internal agenesis and Klippel-Feil syndrome is reported with a literature review.”
“Background and aims: To determine whether triglyceride/high-density lipoprotein chotesterol ratio (TG/HDL-C), which has been shown to be an indicator of the Metabolic syndrome (MetS) and insulin resistance, can predict coronary heart disease (CHD) independently of total cholesterol (TC) and other risk factors in an Iranian population with a high prevalence of MetS and tow HDL-C.
Methods and results: Between February 1999 and August 2001, 1824 men >= 40 years old, free of clinical cardiovascular diseases at baseline, were followed.