A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.

Background: Nine male and eight female calves born to a Normande artificial insemination bull named "Ly" were referred to the French National Observatory of Bovine Abnormalities for multiple fractures, shortened gestation, and stillbirth or perinatal mortality.

Results: Using Illumina BovineSNP50 array genotypes from affected calves and 84 half-sib controls, the associated locus was mapped to a 6.5-Mb interval on chromosome 19, assuming autosomal inheritance with germline mosaicism.

Large-scale detection and characterization of interchromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype data sets.

In this paper, we developed a highly sensitive approach to detect interchromosomal rearrangements in cattle by searching for abnormal linkage disequilibrium patterns between markers located on different chromosomes in large paternal half-sib families genotyped as part of routine genomic evaluations. We screened 5571 families of artificial insemination sires from 15 breeds and revealed 13 putative interchromosomal rearrangements, 12 of which were validated by cytogenetic analysis and long-read sequencing. These consisted of one Robertsonian fusion, 10 reciprocal translocations, and the first case of insertional translocation reported in cattle.

Sex, Racial, and Ethnic Diversity of Dermatology Trainees, 2014-2018.

Although the US population is becoming increasingly diverse, diversity in medicine is lacking. Our aim was to examine trends in sex, racial, and ethnic diversity of trainees in the field of dermatology. Graduate medical education supplements published annually in the were used to obtain demographic data of dermatology trainees from 2014 to 2018.

Women's representation at an academic dermatology conference: trending upwards, but not equal yet.

Although women make up a significant portion of the workforce in dermatology, they remain underrepresented in academia. This study investigates the number of male and female symposium speakers at the American Academy of Dermatology annual meetings over a three-year period and compares research productivity and academic rank between the men and women invited to speak. The results demonstrate a steady increase in the representation of female symposium speakers at the conference from 2016 to 2018, although a higher proportion of invited male speakers hold professorships and leadership positions.

Head, Face, and Neck Fractures Secondary to Ladder-Related Injuries Treated in United States Emergency Departments in 2009-2018.

Background: Ladders are a commonly used piece of equipment; however, their use is accompanied by a significant potential for injury. Fractures of the head, face, and neck are potential consequences of ladder use and can be devastating due to potential for severe sequalae.

Objectives: To describe the frequency and pattern of ladder-related head, face, and neck fractures from 2009-2018.

Injuries to the Head and Face From Skateboarding: A 10-Year Analysis From National Electronic Injury Surveillance System Hospitals.

Purpose: To estimate the incidence of patients presenting to emergency departments (EDs) as a result of facial trauma sustained from skateboarding.

Patients And Methods: The National Electronic Injury Surveillance System (NEISS) database was queried for skateboard-related head and face fractures, contusions, abrasions, and lacerations from 2009 through 2018. We identified 2,519 reported injuries, extrapolating to a national incidence of 100,201 injuries.

Gender disparity in speakers at a major academic emergency medicine conference.

Background: Although women make up a substantial portion of the workforce in emergency medicine, they remain under-represented in academia.

Methods: This study investigates trends in the representation of female speakers at the American College of Emergency Physicians scientific assembly-the largest academic emergency medicine conference in the world. Publication profiles, speaking duration and gender composition of speakers were collected and compared over a 3-year period.

Short communication: A splice site mutation in CENPU is associated with recessive embryonic lethality in Holstein cattle.

A genome scan for homozygous haplotype deficiency coupled with whole-genome sequence data analysis is a very effective method to identify embryonic lethal mutations in cattle. Among other factors, the power of the approach depends on the availability of a greater amount of genotyping and sequencing data. In the present study, we analyzed the largest known panel of Illumina BovineSNP50 (Illumina Inc.

Proposition of a safe Mycobacterium tuberculosis complex denaturation method that does not compromise the integrity of DNA for whole-genome sequencing.

Whole-genome sequencing plays now a leading role in epidemiologic studies of tuberculosis. DNA extraction of Mycobacterium tuberculosis complex (MTBC) requires complete inactivation of the strains, to be handled for further molecular procedures. In this study we compared two chloroform-based denaturation methods (one with a step of heat killing, one without) to a traditional heat inactivation method.

A missense mutation (p.Tyr452Cys) in the CAD gene compromises reproductive success in French Normande cattle.

We scanned the genome of 77,815 Normande cattle with different Illumina SNP chips (Illumina Inc., San Diego, CA) to map recessive embryonic lethal mutations using homozygous haplotype deficiency. We detected 2 novel haplotypes on chromosomes 11 and 24 but did not confirm 6 previously reported haplotypes.

Inhibitory Effect of CAPE and Kaempferol in Colon Cancer Cell Lines-Possible Implications in New Therapeutic Strategies.

Background: Phytochemicals are natural compounds synthesized as secondary metabolites in plants and represent an important source of molecules with therapeutic applications. Attention is accorded to their potential in anti-cancer therapies as single agents or adjuvant treatment. Herby, we evaluated the in vitro effects of a panel of natural compounds with focus on caffeic acid phenethyl ester (CAPE) and Kaempferol for the treatment of human colon cancer.

An initiator codon mutation in SDE2 causes recessive embryonic lethality in Holstein cattle.

Researching depletions in homozygous genotypes for specific haplotypes among the large cohorts of animals genotyped for genomic selection is a very efficient strategy to map recessive lethal mutations. In this study, by analyzing real or imputed Illumina BovineSNP50 (Illumina Inc., San Diego, CA) genotypes from more than 250,000 Holstein animals, we identified a new locus called HH6 showing significant negative effects on conception rate and nonreturn rate at 56 d in at-risk versus control mating.

Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals.

Stature is affected by many polymorphisms of small effect in humans . In contrast, variation in dogs, even within breeds, has been suggested to be largely due to variants in a small number of genes. Here we use data from cattle to compare the genetic architecture of stature to those in humans and dogs.

Use of meta-analyses and joint analyses to select variants in whole genome sequences for genomic evaluation: An application in milk production of French dairy cattle breeds.

As a result of the 1000 Bull Genome Project, it has become possible to impute millions of variants, with many of these potentially causative for traits of interest, for thousands of animals that have been genotyped with medium-density chips. This enormous source of data opens up very interesting possibilities for the inclusion of these variants in genomic evaluations. However, for computational reasons, it is not possible to include all variants in genomic evaluation procedures.

A missense mutation in PFAS (phosphoribosylformylglycinamidine synthase) is likely causal for embryonic lethality associated with the MH1 haplotype in Montbéliarde dairy cattle.

A candidate mutation in the sex hormone binding globulin gene was proposed in 2013 to be responsible for the MH1 recessive embryonic lethal locus segregating in the Montbéliarde breed. In this follow-up study, we excluded this candidate variant because healthy homozygous carriers were observed in large-scale genotyping data generated in the framework of the genomic selection program. We fine mapped the MH1 locus in a 702-kb interval and analyzed genome sequence data from the 1,000 bull genomes project and 54 Montbéliarde bulls (including 14 carriers and 40 noncarriers).

Inbreeding and crossbreeding parameters for production and fertility traits in Holstein, Montbéliarde, and Normande cows.

Breed differences and nonadditive genetic effects for milk production traits, somatic cell score (SCS), conception rate (CR), and days to first service (DFS) were estimated for Holstein × Montbéliarde and Holstein × Normande crossbreds, using an animal model adapted from the French genetic evaluation and extended to across-breed analysis. Inbreeding and breed differences were estimated from all purebred recorded cows. Only records from 1,137 herds with Holstein × Montbéliarde crossbred cows and from 1,033 herds with Holstein × Normande crossbred cows were used to estimate crossbreeding parameters.