8 research outputs found
Perceptions of Campus Climate by Sexual Minorities
Previous research has indicated that students who identify as lesbian, gay, bisexual, or transgender (LGBT) often have negative experiences on university campuses due to their sexual orientation or gender identity. Direct and indirect experiences contribute to an overall perception of the campus climate. This study used an online survey to assess students’ perceptions of campus climate, their experiences confronting bias, support of family members and friends, and whether they had considered leaving campus. Multiple regression analysis indicated that perceptions of poorer campus climate were predicted by greater unfair treatment by instructors, more impact from anti-lesbian, gay, bisexual, transgender, or queer (LGBTQ) bias on friends’ and families’ emotional support, and having hidden one’s LGBT identity from other students. Cluster analyses revealed four groups of participants distinguished by openness about their sexual orientation and negative experiences, with one group appearing to be at risk for poor retention. Results are discussed in terms of the needs of LGBTQ students on campus
Perceptions of Campus Climate by Sexual Minorities
Previous research has indicated that students who identify as lesbian, gay, bisexual, or transgender (LGBT) often have negative experiences on university campuses due to their sexual orientation or gender identity. Direct and indirect experiences contribute to an overall perception of the campus climate. This study used an online survey to assess students’ perceptions of campus climate, their experiences confronting bias, support of family members and friends, and whether they had considered leaving campus. Multiple regression analysis indicated that perceptions of poorer campus climate were predicted by greater unfair treatment by instructors, more impact from anti-lesbian, gay, bisexual, transgender, or queer (LGBTQ) bias on friends’ and families’ emotional support, and having hidden one’s LGBT identity from other students. Cluster analyses revealed four groups of participants distinguished by openness about their sexual orientation and negative experiences, with one group appearing to be at risk for poor retention. Results are discussed in terms of the needs of LGBTQ students on campus
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency
Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile-onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). Characteristic abnormal biochemical findings are secondary to dysfunction of valine metabolism. We describe four patients from two consanguineous families (one Pakistani and one Irish Traveler), who presented in infancy with LS. Urine organic acid analysis by GC/MS showed increased levels of erythro-2,3-dihydroxy-2-methylbutyrate and 3-methylglutaconate (3-MGC). Increased urine excretion of methacrylyl-CoA and acryloyl-CoA related metabolites analyzed by LC-MS/MS, were suggestive of SCEH deficiency; this was confirmed in patient fibroblasts. Both families were shown to harbor homozygous pathogenic variants in the ECHS1 gene; a c.476A > G (p.Gln159Arg) ECHS1variant in the Pakistani family and a c.538A > G, p.(Thr180Ala) ECHS1 variant in the Irish Traveler family. The c.538A > G, p.(Thr180Ala) ECHS1 variant was postulated to represent a Canadian founder mutation, but we present SNP genotyping data to support Irish ancestry of this variant with a haplotype common to the previously reported Canadian patients and our Irish Traveler family. The presence of detectable erythro-2,3-dihydroxy-2-methylbutyrate is a nonspecific marker on urine organic acid analysis but this finding, together with increased excretion of 3-MGC, elevated plasma lactate, and normal acylcarnitine profile in patients with a Leigh-like presentation should prompt consideration of a diagnosis of SCEH deficiency and genetic analysis of ECHS1. ECHS1 deficiency can be added to the list of conditions with 3-MGA