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At least 19 recordsLinked to original sources
PubMed1987

Effects of pentoxifylline on severe intermittent claudication.

Pentoxifylline has been shown to improve treadmill walking distances under blinded, controlled conditions in patients with intermittent claudication. From the pooled data of a blinded, controlled, randomized, multicenter trial, the data from all enrolled patients with severe claudication (less than 70 m on treadmill at baseline) were evaluated. The treadmill data from these more severely ill patients were analyzed separately as a "severe subset" (placebo n = 17; pentoxifylline n = 21). No differences between the two treatment groups were observed in demography, history, or baseline treadmill walking distances. The initial claudication distance (ICD) improved 68% over baseline with pentoxifylline and 12% with placebo (p = .012) after twenty-four weeks of treatment. A new, derived efficacy variable was developed, "minimum distance walked," which tended to minimize psychological effects on treadmill performance. Over sixteen to twenty-four weeks of treatment, the pentoxifylline group improved 49% over baseline and the placebo group 3% (p = .019), when the "minimum distance walked" measurement was used. In this controlled trial the subset of patients with severe intermittent claudication benefited from pentoxifylline therapy.

Aged↗
PubMed2026

Inference of elevated mutation rates and variant effects using 700k exomes.

Genomic sequencing is now widely accessible for genetic diagnostics and is emerging as a component of newborn screening. This technological development generates the need to characterize incoming mutations, create comprehensive datasets of genes causing rare Mendelian disorders, and identify pathogenic variants. Large-scale exome sequencing datasets such as Genome Aggregation Database (gnomAD) have been assembled to help address these challenges. The recent release of gnomAD (v4; n = 730,947) uncovers millions of rare coding variants, many of which have arisen more than once by independent recurrent mutations in the rapidly growing recent human population. Here, we use newly developed theoretical understanding of sampling properties of rare variants to estimate key population genetics parameters of practical importance to human genetics such as demography history, mutation rate, and selection. Solely relying on population data, our method Population Inferred Estimates of Selection (PIES) identifies novel genes with loss-of-function mutational hotspots likely due to selection in spermatogonia. PIES efficiently estimates selection coefficients for heterozygous loss-of-function variants. Combining population genetics inference with variant effect predictors, PIES predicts pathogenic missense mutations and improves variant prioritization for genetic diagnostics and newborn screening.

Journal Article↗
PubMed1987

An anterior cruciate ligament (ACL) evaluation format for assessment of artificial or autologous anterior cruciate reconstruction results.

The ACL evaluation format is a modification and extension of Marshall's approach to evaluation of ligamentous injuries of the knee, whereby functional and clinical improvement can be analyzed independently as well as cumulatively. There are three major parts entered on separate forms: history and surgery (Form 1); initial evaluation and follow-up (Form 2); and complications (Form 3). Form 1 has five sections: patient information (demography); history of injury; previous surgery; surgery performed; and postoperative course. Form 2 has six sections. These are the Lysholm knee function scoring scale, Tegner activity level rating scale, physical findings, complications, supplementary data, and Tegner activity level definitions. Form 2 records the preoperative and follow-up assessments for up to a five-year follow-up period. Form 2 can be used independently of the other forms. Form 3 elaborates in a detailed manner a complication occurrence. The format provides the evaluator with an easy to use, "computer/user friendly," method for the comprehensive assessment of artificial or autologous anterior cruciate reconstruction of the knee. The authors advocate the use of the ACL format as an international standard for data storage to facilitate comparison of results with accuracy and uniformity among investigation centers.

Evaluation Studies as Topic↗
PubMed1989

Consanguinity in the Archbishopric of Toledo, Spain, 1900-79. I. Types of consanguineous mating in relation to premarital migration and its effects on inbreeding levels.

This study, the first of a series on consanguinity in the Archbishopric of Toledo from 1900 to 1979, analyses in detail the types of consanguineous mating in a population of considerable size, some 650,000 persons, in Central Spain. During the period covered, very important transformations occurred in Spanish society. The data relate to 21,464 consanguineous marriages. They were divided into two groups, according to the premarital migration of the couple. Significant differences in the frequencies of the types of consanguineous matings, and their secular evolution, are found for the two groups. The expected trend in inbreeding in the total area shows two different tendencies: constancy till the end of the 1950s, followed by a fast decline during the last two decades.

Catholicism↗
PubMed2026

Population genomics, demography, and circum-Baltic connectivity of Early Medieval southwestern Finland.

BACKGROUND: Knowledge of Early Medieval Finland (1050-1250 CE) relies primarily on archaeological evidence, as contemporary sources are scarce. The available evidence indicates two distinct cultural-economic zones: coastal and inland. Using newly generated genomic data from 34 ancient individuals alongside modern Finnish genomes, we characterise Late Iron Age and Early Medieval ancestry in southwestern Finland, reconstruct demographic patterns, and place individuals within a circum-Baltic relatedness network. RESULTS: Early Medieval ancestry in inland southwestern Finland was very similar to that of present-day inhabitants. Ancient coastal and inland individuals were genetically indistinguishable, whereas modern coastal populations showed substantially more Scandinavian ancestry, and less Baltic ancestry compared to their ancient counterparts. IBD (identity-by-descent) analyses also indicate a major genetic shift in the coastal zone since the Early Medieval Period. Effective population size increased throughout the study period and was ~ 13,000 by 1250 CE. IBD links between Scandinavia and Early Medieval Finland align with known archaeological connections. Furthermore, we identify IBD links between individuals from Early Medieval Finland and victims of the Kronan warship sinking. CONCLUSIONS: We demonstrate nearly a millenium of population continuity in the inland zone of southwestern Finland, contrasted by a large, contemporaneous genetic shift in the coastal zone. This ancestry shift corresponds with documented medieval emigration from Sweden to Finland. The regional population rapidly expanded during this time period, likely due to new agricultural practices and favourable climatic conditions. Our circum-Baltic IBD network indicates that southwestern Finland was firmly embedded into the wider, pre-modern Baltic world.

Humans↗