Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A highly polymorphic GCT repeat was identified and found to be unstable, with an increased number of repeats occurring in DM patients. In the case of severe congenital DM, the paternal triplet allele was inherited unaltered while the maternal, DM-associated allele was unstable. These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome. The triplet repeat sequence is within a gene (to be referred to as myotonin-protein kinase), which has a sequence similar to protein kinases.
Nicotine patches, when used to promote smoking cessation, significantly reduce the extent of exercise-induced myocardial ischemia as assessed by exercise thallium-201 SPECT.
Arising from the external and internal iliac veins, the common iliac veins (CIVs) carry blood from the lower extremities and pelvic region into the inferior vena cava at the level of the fifth lumbar vertebra. It is sometimes common to observe slight anomalies in vascular anatomy in patients; however, anomalies of the CIVs are rare. We present a case of a patient with significant edema of the left lower extremity due to extrinsic compression (May-Thurner syndrome [MTS]) involving a duplicated left CIV found during vascular angiography. Anomalies in pelvic vasculature are well documented in the medical literature; however, documented cases of a duplicated CIV remain few and far between. These anomalies in pelvic vascular anatomy are essential to be aware of to avoid surgical complications and understand their implications in associated pathologies.
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