RESUMO
The benefits and harms of identifying carriers in childhood have long been debated with European Guidelines advising against this practice. Yet over a thousand carriers are identified via newborn bloodspot screening per year in the United Kingdom alone. One of the concerns about identification is the impact it has on an individual's identity. This, in part, will be determined by how parents and peers view carriers, particularly during young adulthood. To address the paucity of research looking at how carriers are perceived by peers, this study sought to explore the views of young adults, who themselves are not carriers, toward carriers. As the narratives around COVID-19 increased, the salience of the term "carrier", the impact of such narratives on perceptions, was also explored. Twenty-five 18-25 year olds participated in a diary-interview study in the United Kingdom during 2021 to explore their perceptions of carriers via hypothetical scenarios. Data were analyzed using thematic analysis. Interviewees believed carriers would experience stigma-including societal and self-stigma. This was because people used existing illness beliefs to make sense of carrier status about which they had low levels of understanding. Interviewees believed carriers would experience challenges in familial and romantic relationships due to others' judgments. They also believed parents of carriers would experience a burden around making reproductive decisions, with clear views on what society would view as acceptable choices. Importantly interviewees felt knowledge of ones' own carrier status conferred complex communication challenges within relationships. These findings suggest an urgent need for more research and support for young adults entering a key stage in life for identity formation who have knowledge of their carrier status. The results suggest that support targeted toward the carrier regarding navigating complex communication and targeted more broadly to avoid stigma based on misunderstanding should be researched and developed.
RESUMO
BACKGROUND: Peripheral arterial disease (PAD) affects millions of Americans and leads to critical limb ischemia (CLI) in the most severe cases. Investigators have demonstrated the utility of hydrogen sulfide for restoring perfusion in rodent models of chronic ischemia. We sought to determine the minimum effective dose (MED) of sulfide necessary to restore perfusion in the rat hindlimb, to assess the persistence of limb perfusion after cessation of treatment, and to compare perfusion measurements between laser doppler and ultrasound methods. METHODS: In 3 separate experiments, sodium sulfide (1.0, 0.5, or 0.25 mg/kg twice daily for 14 days, 0.25 mg/kg twice daily for 7 days, 0.5 mg/kg once daily for 7 days, or 0.25 mg/kg twice daily for 3 days) or vehicle was administered after left femoral artery ligation and transection. Hindlimb perfusion was assessed by laser doppler flowmetry and contrast enhanced ultrasound over the duration of each study, and cellular proliferation and vascular density were assessed by immunohistochemical means in the initial experiment. RESULTS: Intravenous sodium sulfide at 0.25, 0.5, or 1.0 mg/kg twice daily for 2 weeks significantly enhanced the recovery of blood flow to the ischemic hindlimb by 7 days. The enhancement of blood flow with 1.0 mg/kg dosing was coincident with an increase in cellular proliferation and vascular density in the ischemic tissue. In a final experiment, i.v. administration of sodium sulfide at 0.5 mg/kg once daily for 7 days or 0.25 mg/kg twice daily for 7 days significantly elevated blood flow and skeletal muscle perfusion in the ischemic hindlimb, whereas 0.25 mg/kg twice daily for 3 days had no effect. This enhancement of blood flow appeared long lived, as blood flow remained elevated 3 weeks after cessation of treatment. CONCLUSIONS: These data, together with other published observations, demonstrate the efficacy of hydrogen sulfide in restoring perfusion to chronically ischemic tissue and establish a minimum efficacious dose in the rat hindlimb model.