background rhabdomyolysis is considered a rare medical condition in pediatric population. case report we report our experience on a one year old girl referred to shiraz nemazee hospital, southern iran with rhabdomyolysis due to severe hypernatremia, secondary to gastroenteritis. discussion rhabdomyolysis should be taken in to consideration in hypernatremic states, as it may lead to severe conse...

Rare diseases by definition are conditions that affect small numbers of people. The prevalence threshold that designates a disease as rare varies in different countries. Generally, diseases with prevalence fewer than 5 in 10,000 people are considered rare.1 Many rare diseases affect far fewer people worldwide, with some having a single identified case and others with cases numbering from tens t...

A subpopulation D of rare alleles is considered. The subpopulation is part of a large population that evolves according to a Moran model with selection and growth. Conditional on the current frequency, q, of the rare allele, an approximation to the distribution of the genealogy of D is derived. In particular, the density of the age, T(1), of the rare allele is approximated. It is shown that tim...

Although variations in allele frequencies at common SNPs have been extensively studied in different populations, little is known about the stratification of rare variants and its impact on association tests. In this paper, we used Affymetrix 500K genotype data from the WTCCC to investigate if variants in three different frequency categories (below 1%, between 1 and 5%, above 5%) show different ...

OBJECTIVES Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required. METHODS Discussion with an expert panel was augmented with references and case studies to explore robust approaches for HTA evidence generation for rare ...

Recent and rapid human population growth has led to an excess of rare genetic variants that are expected to contribute to an individual's genetic burden of disease risk. To date, much of the focus has been on rare protein-coding variants, for which potential impact can be estimated from the genetic code, but determining the impact of rare noncoding variants has been more challenging. To improve...

Principal components analysis (PCA) has been successfully used to correct for population stratification in genome-wide association studies of common variants. However, rare variants also have a role in common disease etiology. Whether PCA successfully controls population stratification for rare variants has not been addressed. Thus we evaluate the effect of population stratification analysis on...

Neonatal hyperbilirubinemia (NH) is a common finding in newborn babies in Indonesia. Common and rare variants of UGT1A1 have been known to contribute to NH etiology. This study aims to identify UGT1A1 genetic variation and haplotype associated with NH in Indonesian population. DNA was isolated from 116 cases and 115 controls and a targeted-deep sequencing approach was performed on the promoter,...

Determining differences between common and rare species is commonly used to identify factors responsible for rarity. Existing studies, however, suffer from two important drawbacks. First, studies compare species that are closely related phylogenetically but occupy different habitats. Second, these studies concentrate on single life history traits, with unknown relevance for population growth ra...

Rapid growth of the human population has caused the accumulation of rare genetic variants that may play a role in the origin of genetic diseases. However, it is challenging to identify those rare variants responsible for specific diseases without genetic data from an extraordinarily large population sample. Here we focused on the accumulated data from the human mitochondrial (mt) genome sequenc...