Enhancing quality of life and medication adherence for people living with HIV: the impact of an information system.

BACKGROUND: The widespread availability of antiretroviral therapy has led to improvements in life expectancy and thus an increase in the number of people living with HIV/AIDS (PLWHA) worldwide. However, a similar increase in the number of newly-diagnosed patients in Cyprus suggests the need for solutions designed to improve monitoring, planning, and patient communication. In this study, we aimed to determine whether the use of an information system to manage PLWHA might contribute to improved quality of life and critical adherence to prescribed drug regimens and ongoing medical care. METHODS: A randomized controlled trial study was conducted in Cyprus based on information that we collected using the highly valid and reliable Greek translation of the World Health Organization (WHO) Quality of Life (QOL) HIV-BREF questionnaire to assess sociodemographic variables and patient compliance. We distributed 200 questionnaires before implementing a Health Medical Care (HMC) information system at our clinic. Six months after implementing this system, 68 of the completed questionnaires were selected, including two groups of 34 participants who had been assigned at random to the intervention or the control group. Participants included PLWHA aged ≥ 18 years who had been receiving antiretroviral therapy for more than 12 months between July 15, 2020, and July 15, 2022. RESULTS: The changes in baseline to six-month scores reported for the intervention group were significantly higher than in the control group in all six subscales assessed with the WHOQOL-HIV-BREF questionnaire, as well as in the assessment of compliance. Furthermore, compliance with treatment was associated with higher scores in the questionnaire subscales, including physical health, psychological health, degree of autonomy, social relationships, life circumstances, and spirituality/religious/personal beliefs. We also identified specific demographic factors and behaviors that were associated with better compliance with scheduled medical care and the prescribed drug regimen. Specifically, men exhibited better compliance than women and younger PLWHA exhibited better compliance than the elderly as did individuals who reported a higher level of educational attainment. Additionally, individuals who did not use addictive substances, consumed less alcohol, and were managed using the monitoring information system all exhibited better compliance compared to those in the control group. CONCLUSION: The results of this study suggest that management of PLWHA via the use of an information system can contribute to improved QOL and drug compliance.

This study was conducted to find ways to improve the lives of people living with HIV/AIDS (PLWHA) in Cyprus. With more PLWHA receiving treatment and care, it's crucial to ensure they have a good quality of life and follow their treatment plans. The main question we wanted to answer was whether using a special computer system to manage PLWHA could make their lives better and help them stick to their treatment. We found that using this computer system indeed made a positive difference. People who used it reported better physical and mental health, more independence, better relationships, and overall improved life circumstances. The study showed that managing PLWHA with a computer system can lead to better quality of life and treatment adherence. Some groups, like men, younger individuals, and those with more education, did even better. Also, people who didn't use addictive substances or consume much alcohol had better results. In summary, using technology in healthcare can greatly benefit PLWHA in Cyprus. This study highlights the importance of innovative solutions in healthcare to enhance the well-being of people living with HIV/AIDS and ensure they receive the best possible care.

Fumarase deficiency in dichorionic diamniotic twins.

Fumarase deficiency is a rare autosomal recessive inborn error of metabolism of the Krebs Tricarboxylic Acid cycle. A heavy neurological disease burden is imparted by fumarase deficiency, commonly manifesting as microcephaly, dystonia, global developmental delay, seizures, and lethality in the infantile period. Heterozygous carriers also carry an increased risk of developing hereditary leiomyomatosis and renal cell carcinoma. We describe a non-consanguineous family in whom a dichorionic diamniotic twin pregnancy resulted in twin boys with fumarase deficiency proven at the biochemical, enzymatic, and molecular levels. Their clinical phenotype included hepatic involvement. A novel mutation in the fumarate hydratase gene was identified in this family.

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).

The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy.

Prenatal diagnosis in a family with X-linked hydrocephalus.

The neural cell adhesion molecule L1 is a transmembrane glycoprotein belonging to the immunoglobulin superfamily of cell adhesion molecules (CAMs). Its expression is essential during embryonic development of the nervous system and it is involved in cognitive function and memory. Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (Hydrocephalus as a result of Stenosis of the Aqueduct of Sylvius), MASA (Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs) syndrome, X-linked complicated spastic paraplegia type I (SPG1) and X-linked Agenesis of the Corpus Callosum (ACC). These four disorders represent a clinical spectrum that varies both between and within families. The main clinical features of this spectrum are Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus (CRASH syndrome). Since there is no biochemically assayed disease marker, molecular analysis of the L1CAM gene is the only means of confirming a clinical diagnosis. Most L1CAM mutations reported to date are point mutations (missense, nonsense, splice site) and only a few patients with larger rearrangements have been documented. We have characterised a rare intragenic deletion of the L1CAM gene in a sample of DNA extracted from a chorionic villus biopsy (CVB) performed at 12 weeks' gestation. =

Human recombination hot spots hidden in regions of strong marker association.

The fine-scale distribution of meiotic recombination events in the human genome can be inferred from patterns of haplotype diversity in human populations but directly studied only by high-resolution sperm typing. Both approaches indicate that crossovers are heavily clustered into narrow recombination hot spots. But our direct understanding of hot-spot properties and distributions is largely limited to sperm typing in the major histocompatibility complex (MHC). We now describe the analysis of an unremarkable 206-kb region on human chromosome 1, which identified localized regions of linkage disequilibrium breakdown that mark the locations of sperm crossover hot spots. The distribution, intensity and morphology of these hot spots are markedly similar to those in the MHC. But we also accidentally detected additional hot spots in regions of strong association. Coalescent analysis of genotype data detected most of the hot spots but showed significant differences between sperm crossover frequencies and historical recombination rates. This raises the possibility that some hot spots, particularly those in regions of strong association, may have evolved very recently and not left their full imprint on haplotype diversity. These results suggest that hot spots could be very abundant and possibly fluid features of the human genome.