Alterations in lipids and apolipoproteins contribute to cardiovascular disease (CVD) and are common in people with HIV. The aim of our study was to compare lipid profiles and body composition between Show more
Alterations in lipids and apolipoproteins contribute to cardiovascular disease (CVD) and are common in people with HIV. The aim of our study was to compare lipid profiles and body composition between people with and without HIV and to explore whether any associations with HIV could be explained by socio-demographic, clinical characteristics and body composition. Cross-sectional analysis of a cohort study enrolling people with HIV and HIV-negative controls. Apolipoproteins [ApoB-100, ApoA1, Lp(a)] were analysed by immunoturbidimetry. Lipids (total cholesterol [TC], low-density lipoprotein [LDL], high-density lipoprotein [HDL]), clinical/demographic data and dual-energy X-ray absorptiometry (DXA)-measured body composition parameters were collected. Between-group differences were assessed with Student's T-test. Linear regression models assessed associations of lipids and apolipoproteins with HIV status and associations with socio-demographic, clinical characteristics and body composition. We included 108 people with HIV on treatment (93.5% with viral suppression) and 96 controls. People with HIV were younger, more likely to be male, with obesity, of African ethnicity, smokers and with a higher representation of CVD, hypertension, diabetes and statin use. ApoB-100, TC, HDL and LDL were significantly lower in people with HIV, with no between-group difference in ApoA, Lp(a) and body composition. HIV infection remained independently associated with lower TC and LDL after adjustment for possible confounders. People with HIV from a contemporary cohort had lower pro-atherogenic lipid parameters compared to controls, and no differences in body composition between people with HIV and controls were observed. Traditional risk factors for CVD and chronic inflammation might have a greater impact than dyslipidaemia itself on the increased CVD risk in people with HIV. Show less
Mutation of the CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, has recently been associated with late-onset, non-syndromic retinal dystrophy. Herein we describe the multimodal ima Show more
Mutation of the CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, has recently been associated with late-onset, non-syndromic retinal dystrophy. Herein we describe the multimodal imaging, immunological and systemic features of an adult with compound heterozygous CLN3 mutations. A 50-year-old female with non-syndromic retinal dystrophy from the age of 36 years underwent multimodal retinal imaging, electroretinography, neuroimaging, immunological studies and genetic testing. CLN3 transcripts were amplified from patient leukocytes by reverse transcriptase polymerase chain reaction and characterized by Sanger sequencing. Visual acuity declined to 6/12 and 6/76 due to asymmetrical central scotoma. ERG responses became electronegative and patient's serum contained anti-retinal antibodies. Final visual acuity stabilized at 6/60 bilaterally 3 years after peri-ocular steroid and rituximab infusion. Genetic testing revealed compound heterozygous CLN3 mutations: the 1.02 kb deletion and a novel missense mutation (c.175G>A). In silico, analyses predicted the c.175G>A mutation disrupted an exonic splice enhancer site in exon 3. In patient leukocytes, CLN3 expression was reduced and novel CLN3 transcripts lacking exon 3 were detected. Our case study shows that (1) non-syndromic CLN3 disease leads to rod and delayed primary cone degeneration resulting in constricting peripheral field and enlarging central scotoma and, (2) the c.175G>A CLN3 mutation, altered splicing of the CLN3 gene. Overall, we provide comprehensive clinical characterization of a patient with non-syndromic CLN3 disease. Show less