introduction: lipomas of the larynx are very rare benign lesions; macroscopically, they resemble retention cysts, so their diagnosis is usually made after surgery.   case report: a rare case of pediatric paraglottic space lipoma in an 11-year-old boy is explained. the mass was mobile, soft, without fluctuation or pulsation. ct scan revealed a 5.7 cm cervical fat density with regional lymphadeno...

introduction: recent molecular studies on iranian β-thalassemia genes revealed the presence of eight common mutations associated with thalassemia. although these mutations are frequent, there are other rare and unknown mutations that can create large problems in designing preventive programs. we detected and explained the common mutations in north-western iran previously and detection of the ra...

Humanitarian applications include research that is primarily directed toward promoting human welfare. For example, humanity’s top 10 problems over the next 50 years have been outlined as the following: energy, water, food, environment, poverty, terrorism, disease, education, democracy, and population. Likewise, research focused on planning and responding to disasters can have an immediate impac...

While Canada ranks second in the world in terms of national land area, its most productive arable land is limited in extent. These lands are also under pressure due to rapid urbanization, especially in the high growth areas of southern Ontario, the CalgaryEdmonton corridor and the lower Fraser River valley of British Columbia. Currently, a program is underway in the Earth Sciences Sector of Nat...

BACKGROUND About 30 million individuals in the United States are living with a rare disease, which by definition have a prevalence of 200,000 or fewer cases in the United States ([National Organization for Rare Disorders], [About NORD], [2016]). Disease heterogeneity and geographic dispersion add to the difficulty of completing robust studies in small populations. Improving the ability to condu...

IN 1962 LORENTZ described a 41-year-old woman who had an ischemic stroke while taking oral contraceptives. By 1970, 93 cases of ischemic strokes in young women using oral contraceptives had been reported. Establishing that a common exposure, oral contraceptives, causes a rare outcome, stroke, is methodologically challenging. Experimental studies with random allocation of subjects are not possib...

es, have a very low incidence and include diseases that occur at a prevalence of less than 5 cases per 10 000 people in the overall population (1). New rare diseases are discovered every year, and some of today’s known diseases in this category have patient populations of fewer than a hundred (2). In a country like Croatia (population of 4.5 million), most physicians do not see a single patient...

Neutral dynamics occur in evolution if all types are 'effectively equal' in their reproductive success, where the definition of 'effectively equal' depends on the population size and the details of mutations. Empirically observed neutral genetic evolution in extremely large clonal populations can only be explained under current models if selection is completely absent. Such models typically con...

Genome-wide association studies have been able to identify disease associations with many common variants; however most of the estimated genetic contribution explained by these variants appears to be very modest. Rare variants are thought to have larger effect sizes compared to common SNPs but effects of rare variants cannot be tested in the GWAS setting. Here we propose a novel method to test ...

In the quest for the missing heritability of most complex diseases, rare variants have received increased attention. Advances in large-scale sequencing have led to a shift from the common disease/common variant hypothesis to the common disease/rare variant hypothesis or have at least reopened the debate about the relevance and importance of rare variants for gene discoveries. The investigation ...