Given the enormous progress in the knowledge of the human genome, genetic markers are now available throughout the genome. Haplotype analysis, allowing the simultaneous use of information from several markers, has thus become increasingly popular. However, we often face the problem of missing data and of haplotype identification. We have proposed a haplotype based method for the genetic study of multifactorial diseases in founder populations, the MILC method (Bourgain et al. 2000). MILC is based on the contrast of identity length between haplotypes transmitted to affected offspring and haplotype non-transmitted. In this study, the impact of different strategies, regarding missing data, on the MLIC method are evaluated. A real situation is considered where data are derived from a genome screen for asthma susceptibility alleles in the Hutterites. Results are illustrated on this asthma data set.
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http://dx.doi.org/10.1017/s000348000100896x | DOI Listing |
J Bone Joint Surg Am
January 2025
Department of Orthopaedic Surgery, Stanford University, Redwood City, California.
Background: The accurate inclusion of patient comorbidities ensures appropriate risk adjustment in clinical or health services research and payment models. Orthopaedic studies often use only the comorbidities included at the index inpatient admission when quantifying patient risk. The goal of this study was to assess improvements in capture rates and in model fit and discriminatory power when using additional data and best practices for comorbidity capture.
View Article and Find Full Text PDFPLoS One
January 2025
Centre for Research on Evaluation, Science and Technology (CREST), Stellenbosch University, Stellenbosch, South Africa.
Academic interest in scientists who regularly appear in the media dates back to Rae Goodell's seminal book "The visible scientists", in which she lists distinct characteristics of visible scientists, including being controversial, articulate, colorful, and reputable as a scientist. Visible scientists thus share relevant media-related characteristics that stand out in their portrayal as a group and are reminiscent of other celebrities' characteristics. However, questions arise: what is special about the celebrity being a scientist? How many and what types of scientists fall into this category? What are the peers' and the public's expectations towards the social role of the visible scientist? To date, work on visible scientists has focused on theorizing them in the context of the relationship between science and its publics and empirical studies have mainly sought to characterize visible scientists and focused on single countries.
View Article and Find Full Text PDFMol Pharm
January 2025
Regional Center of Advanced Technologies and Materials, Czech Advanced Technology and Research Institute (CATRIN), Palacký University Olomouc, Šlechtitelů 27, 779 00 Olomouc, Czech Republic.
Lipid-mediated delivery of active pharmaceutical ingredients (API) opened new possibilities in advanced therapies. By encapsulating an API into a lipid nanocarrier (LNC), one can safely deliver APIs not soluble in water, those with otherwise strong adverse effects, or very fragile ones such as nucleic acids. However, for the rational design of LNCs, a detailed understanding of the composition-structure-function relationships is missing.
View Article and Find Full Text PDFJAMA Cardiol
January 2025
Ifakara Health Institute, Ifakara Branch, Ifakara, United Republic of Tanzania.
Importance: Hypertension is the primary cardiovascular risk factor in Africa. Recently revised World Health Organization guidelines recommend starting antihypertensive dual therapy; clinical efficacy and tolerability of low-dose triple combination remain unclear.
Objectives: To compare the effect of 3 treatment strategies on blood pressure control among persons with untreated hypertension in Africa.
Dermatol Ther (Heidelb)
January 2025
Department of Dermatology, University of Tsukuba, Tsukuba, Japan.
Introduction: Patients with moderate-to-severe atopic dermatitis (AD), a body surface area (BSA) of ≤ 40%, and an itch numerical rating scale (NRS) score of ≥ 7 ("BARI itch dominant") have been characterized as an important group to consider for the oral janus kinase (JAK) 1/2 inhibitor baricitinib (BARI). Herein we aim to evaluate quality of life (QoL) and functioning outcomes in adult patients with BSA ≤ 40% and itch NRS ≥ 7 at baseline (BL) who received BARI 4 mg in the topical corticosteroid (TCS) combination trial BREEZE-AD7.
Materials: BREEZE-AD7 was a randomized, double-blind, placebo-controlled, parallel-group outpatient study involving adult patients with moderate-to-severe AD who received once-daily placebo or 2-mg or 4-mg BARI in combination with TCS for 16 weeks.
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