Embodiment of discrimination: a cross-sectional study of threats, humiliating treatment and ethnic discrimination in relation to somatic health complaints among Sámi in Sweden.

BACKGROUND: Ethnic discrimination is acknowledged as a social determinant of health for Indigenous populations worldwide. This study aimed to investigate embodiment of perceived ethnic discrimination among the Sámi population in Sweden. METHODS: A population-based health study was conducted among the Sámi population aged 18-84 years in 2021. Perceived discrimination was assessed by three variables: exposure to threat, humiliation treatment and ethnic discrimination. To capture current physical health, complaints of headache, back pain, stomach pain, sleeping problems, dizziness and tiredness were used. An overall somatic complaints score was created by summing up the six individual symptoms. The magnitude of the association between the independent variables and the outcomes was summarised with the ß coefficients and prevalence ratios using 95% credible intervals (95% CrI) for inferential purposes. RESULTS: Overall, 4.3% reported to have been exposed to threat, 26.1% to humiliation and 11.2% and 32.3% to ethnic discrimination in the last 12 months and beyond 12 months, respectively. After mutual adjustment, threat (ß=1.25; 95% CrI=0.88 to 1.60), humiliation (ß=1.29; 95% CrI: 1.14 to 1.44) and the two categories of discrimination (ß=0.92; 95% CI: 0.64 to 1.21 in the last 12 months and ß=0.68; 95% CI: 0.54 to 0.83 beyond) remained significantly associated to the overall somatic complaints score. Similar results were found for individual complaints. CONCLUSIONS: This study has shown a strong relationship between different expressions of perceived ethnic discrimination and a series of somatic complaints among the Sámi in Sweden. Efforts to alleviate interpersonal and institutional discrimination against the Sámi would contribute to improve their health.

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

The Nexilin F-Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z-disc protein important for cardiac function and development in humans, zebrafish, and mice. Heterozygote variants in the human NEXN gene have been reported to cause dilated and hypertrophic cardiomyopathy. Homozygous variants in NEXN cause a lethal form of human fetal cardiomyopathy, only described in two patients before. In a Swedish, four-generation, non-consanguineous family comprising 42 individuals, one female had three consecutive pregnancies with intrauterine fetal deaths caused by a lethal form of dilated cardiomyopathy. Whole-exome sequencing and variant analysis revealed that the affected fetuses were homozygous for a NEXN variant (NM_144573:c.1302del;p.(Ile435Serfs*3)). Moreover, autopsy and histology staining declared that they presented with cardiomegaly and endocardial fibroelastosis. Immunohistochemistry staining for Nexilin in the affected fetuses revealed reduced antibody staining and loss of striation in the heart, supporting loss of Nexilin function. Clinical examination of seven heterozygote carriers confirmed dilated cardiomyopathy (two individuals), other cardiac findings (three individuals), or no cardiac deviations (two individuals), indicating incomplete penetrance or age-dependent expression of dilated cardiomyopathy. RNA sequencing spanning the variant in cDNA blood of heterozygote individuals revealed nonsense-mediated mRNA decay of the mutated transcripts. In the current study, we present the first natural course of the recessively inherited lethal form of human fetal cardiomyopathy caused by loss of Nexilin function. The affected family had uneventful pregnancies until week 23-24, followed by fetal death at week 24-30, characterized by cardiomegaly and endocardial fibroelastosis.

A case of long QT syndrome: challenges on a bumpy road.

Beta-agonist treatment during pregnancy may unmask the diagnosis of long QT syndrome. The QT prolongation can result in functional AV block. A history of seizure and/or sudden death in a family member should raise suspicion of ventricular tachycardia. More than one mutation may coexist. Refusal of beta-blocker therapy complicates risk stratification.