An epidemiological and genetic investigation of myotonia congenita was carried out in northern Finland. Altogether 58 patients were identified (of whom 54 lived in the study area) in 23 families, with a prevalence of 7.3 per 100000. The majority of the families originated from a sparsely populated area in western Lapland. The mean age at onset of the disease was 11 years with a range of 2 to 45...

Information of 82 children in Finland, treated during the years 1974 to 1983 for polycystic kidney disease, was collected retrospectively. The occurrence was of the order of 1:8000 births. Fifty-one of the children had early lethal disease and 31 survived for over 28 days. These children came from 69 families. They were divided by family studies into three groups: autosomal dominant polycystic ...

Chessboards are commonly used to calibrate cameras, and many robust methods have been developed to recognize the unoccupied boards. However, when the chessboard is populated with chess pieces, such as during an actual game, the problem of recognizing the board is much harder. Challenges include occlusion caused by the chess pieces, the presence of outlier lines and low viewing angles of the che...

Most tools for visualizing Semantic Web data structure the representation according to the concept definitions and interrelations that constitute the ontology’s vocabulary. Instances are often treated as somewhat peripheral information, when considered at all. The visualization of instance-level data poses different but significant challenges as instances will often be orders of magnitude more ...

Adults in a culture symbolically construct an ideal child, and this ideal child is shaped by the culture’s goals for child development. However, the nature of this ideal varies from culture to culture (Harkness and Super, 1996). Ethnic diversity therefore implies varymg definitions of the ideal child. Many American schools are currently populated by children coming from immigrant families. Inso...

Despite the abundance of research investigating general and academic vocabularies and developing dozens of word lists, few studies have compared academic vocabulary with general service word lists such as conversation vocabulary. Many EAP researchers assume that university students need to know all the words in West’s (1953) General Service List (GSL) as a prerequisite to academic words (e.g., ...

Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perf...

The highly conserved signature N-terminal peptide of histone protein H3 plays crucial roles in gene expression controls. We investigated the conformational changes of the peptide caused by lysine dimethylation and acetylation of the histone H3 N-terminal tail by molecular dynamics and replica-exchange molecular dynamics simulations. Our results suggest that the most populated structures of the ...