BACKGROUND Although rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. The aim of this epidemiological study was to provide descriptive figures referring to a sizable group of unrelated rare diseases. METHODS Data from the rare diseases registry established in the Veneto Region of north-east Italy (population 4,900,000), referr...

0006-3207/$ see front matter 2011 Elsevier Ltd. A doi:10.1016/j.biocon.2011.06.019 ⇑ Corresponding author. Tel.: +1 506 452 6047; fax E-mail address: [email protected] (S.B. Heard). Population-level impacts of insect herbivory on rare and endangered plants are poorly understood, being frequently suggested but seldom quantified. We compiled 37 studies from the primary literature encompassing 35 rare...

abstract malacoplakia is a rare chronic inflammatory disease associated with infection and immunosuppression, and very few occurrences have been reported in the bone. the authors describe the case of a 22-year-old woman with paraplegia and urinary and fecal incontinence whose thoracic spine magnetic resonance imaging suggested a tumoral or extensive inflammatory process in the body of the 8th, ...

using the gaussian 2003 software and mp2/ 6–311 ++ g** method for he: he, ne:ne andmp2/6-31g method for ar: ar, kr: kr and hf/sto-3g method for xe: xe, the optimizedinteraction energies between two like atoms of rare gases (he, ne, ar, kr and xe) as a functionof the distances between the centers of two considered atoms were evaluated and the resultswere interpreted according to the lennard – jo...

introduction: neonatal nasal airway obstruction induces various degrees of respiratory distress. the management of this disease, including surgical repair, will depend on the severity and location of the obstruction. we describe here a case of congenital nasal nostril stenosis that required surgical repair for stenting of both nares after coanal atresia repair.   case report: a 2 days old femal...

1. A potential driver of species abundance that remains understudied is the interaction between host species and their microbial symbionts. Beneficial symbionts could promote the dominance of common host species by increasing their population growth rates more than they do for rare species, and symbiont benefits could be important for maintaining rare species in communities. Alternatively, intr...

Next-generation sequencing technologies now make it possible to genotype and measure hundreds of thousands of rare genetic variations in individuals across the genome. Characterization of high-density genetic variation facilitates control of population genetic structure on a finer scale before large-scale genotyping in disease genetics studies. Population structure is a well-known, prevalent, a...

Both family- and population-based samples are used to identify genetic variants associated with phenotypes. Each strategy has demonstrated advantages, but their ability to identify rare variants and genes containing rare variants is unclear. To compare these two study designs in the identification of rare causal variants, we applied various methods to the population- and family-based data simul...