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“Study Design. Retrospective
study of 20 consecutive patients who underwent en bloc tumor excision of sacral Selleck 3 Methyladenine chordomas and chondrosarcomas.
Objective. To evaluate the functional and oncological outcomes following en bloc tumor excision for sacral chordomas and chondrosarcomas.
Summary of Background Data. Chordomas and chondrosarcomas are 2 of the most common malignant primary tumors of the sacrum in adults. To date, few large clinical series with en bloc resection of these tumors exist.
Methods. An institutional primary spine tumor surgical database was retrospective reviewed. Twenty consecutive patients with sacral chordomas and chondrosarcomas who underwent primary en bloc tumor excisions from 2002 to 2007 were included in the study. Surgical margin, perioperative complications, and postoperative functional status in these patients were analyzed. Disease-free survival following en bloc tumor excision was determined using the Kaplan-Meier method.
Results. The study cohort included 8 males and 12 females with an average
age of 53.5 years and a man follow-up of 47.8 months. Wide or marginal en bloc resection was achieved in 14 patients. In 6 other patients, tumor was identified at the surgical margins, and they were considered to have contaminated/intralesional resections. The 30-day perioperative morbidities in this series included selleck screening library 1 death from pulmonary embolism and 9 wound complications. Forty percent of the patients had normal bladder and bowel functions after surgery, while 60% of the patients had partial or complete loss of bladder and bowel functions. All but 2 patients in this group remained ambulatory after the surgery. The mean disease-free survival for patients with wide or marginal en bloc tumor excisions was 51 months, but the mean disease-free Liproxstatin-1 mw survival was only 17.5 months for patients who had contaminated/intralesional resections.
Conclusion. Wide or marginal en bloc excision of sacral chordoma and chondrosarcoma is associated with significant improvement in disease-free
survival with acceptable perioperative morbidity rate.”
“Background and aims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused by mutations in the low-density lipoprotein receptor (LDL-R) gene, leading to elevated levels of cholesterol and an increased risk of coronary heart disease. In this article, from four homozygous FH phenotype probands we identified disease causing mutations and analyzed the relationship between genotype and phenotype.
Methods and results: DNA sequencing identified five LDL-R point mutations in four unrelated families. We found a novel homozygous mutation (C210R), a homozygous mutation at W462X, a compound heterozygous mutation of C122Y and T3831, and a G > A intron 3 splice site homozygous mutation.