Psychosocial Factors Associated with Resilience in a National Community-Based Cohort of Australian Gay Men Living with HIV

HIV-positive gay men may experience multiple sources of adversity and stress, related both to their HIV diagnosis and sexual identity. Most of these men, however, do not experience mental health problems. Little is known about factors that help them achieve resilience in the face of life challenges. This study examined psychosocial factors associated with resilience in a national community-based sample of 357 Australian HIV-positive gay men. Resilience was measured using the Connor–Davidson Resilience Scale. Higher levels of resilience were linked with experiencing low or no internalized HIV-related stigma, having no previous history of mental health problems, and a number of socioeconomic indicators. In addition to providing a more complete picture of the mental health of HIV-positive gay men, findings from this study can be used to inform strength-based approaches to mental health prevention and support.     

Recalcitrant granulomatous periorificial dermatitis with good response to low‐dose oral isotretinoin

Granulomatous periorificial dermatitis is a clinical variant of periorificial dermatitis. We present the case of an 18‐year‐old girl with several reddish papular lesions in the perioral, perinasal, and periorbital regions unresponsive to conventional therapy. After 6 months of therapy with low‐dose oral isotretinoin, the lesions fully remitted.     

Increasing mitochondrial ATP synthesis with butyrate normalizes ADP and contractile function in metabolic heart disease

Metabolic heart disease (MHD), which is strongly associated with heart failure with preserved ejection fraction, is characterized by reduced mitochondrial energy production and contractile performance. In this study, we tested the hypothesis that an acute increase in ATP synthesis, via short chain fatty acid (butyrate) perfusion, restores contractile function in MHD. Isolated hearts of mice with MHD due to consumption of a high fat high sucrose (HFHS) diet or on a control diet (CD) for 4 months were studied using ³¹P NMR spectroscopy to measure high energy phosphates and ATP synthesis rates during increased work demand. At baseline, HFHS hearts had increased ADP and decreased free energy of ATP hydrolysis (ΔG _{~ ATP}), although contractile function was similar between the two groups. At high work demand, the ATP synthesis rate in HFHS hearts was reduced by over 50%. Unlike CD hearts, HFHS hearts did not increase contractile function at high work demand, indicating a lack of contractile reserve. However, acutely supplementing HFHS hearts with 4mM butyrate normalized ATP synthesis, ADP, ΔG _{~ ATP} and contractile reserve. Thus, acute reversal of depressed mitochondrial ATP production improves contractile dysfunction in MHD. These findings suggest that energy starvation may be a reversible cause of myocardial dysfunction in MHD, and opens new therapeutic opportunities.     

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440–1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.