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2.
Cureus ; 15(6): e41189, 2023 Jun.
Article de Anglais | MEDLINE | ID: mdl-37525782

RÉSUMÉ

High cholesterol levels are a significant risk factor for heart disease, the leading cause of death worldwide. Lowering cholesterol plays a crucial role in maintaining good health. One approach to reducing cholesterol is through dietary modifications, and avocados have been recognized as a potential food choice for this purpose. Avocados are rich in monounsaturated fatty acids (MUFAs), fiber, and plant sterols, which have cholesterol-lowering effects. Incorporating avocados into a low-fat diet can be beneficial. This study design followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines and conducted databases in Cochrane, SCOPUS, PubMed, and Web of Science up until May 2023, combining keywords related to avocados and cardiovascular diseases (CVDs). The study focused on randomized clinical trials (RCTs) and excluded observational studies, meta-analyses, surveys, abstracts, and reviews. Seven RCTs were included in the study, all reporting total cholesterol (TC) levels. The findings of the study showed that individuals who followed an avocado diet experienced reduced TC levels compared to those who followed a habitual diet or a low-fat diet. The avocado group exhibited lower TC levels compared to the control group in both the habitual diet and low-fat diet subgroups. When considering high-density lipoprotein (HDL) levels, the control group had higher HDL levels than the avocado group in the habitual diet subgroup, while the avocado group had higher HDL levels than the control group in the low-fat diet subgroup. In both the habitual diet and low-fat diet subgroups, the avocado group had lower levels of low-density lipoprotein (LDL) compared to the control group. The study concluded that incorporating avocados into the diet can be a beneficial dietary strategy for individuals aiming to lower their cholesterol levels and promote heart health. The avocado diet was associated with decreased LDL levels, but it did not significantly impact triglyceride (TG) levels or fasting glucose levels. Systolic blood pressure values showed minimal changes with the avocado diet.

3.
Cureus ; 15(4): e37933, 2023 Apr.
Article de Anglais | MEDLINE | ID: mdl-37267051

RÉSUMÉ

INTRODUCTION: 90% of visually impaired people live in developing countries. There are various types of vision impairment, but the focus of the current study is retinitis pigmentosa (RP). Up to now, 150 mutations have been reported that are linked with RP. METHODOLOGY: Healthy and affected members from two Pakistani families (RP01 and RP02) segregating autosomal recessive RP were selected for DNA extraction. PCR was conducted, and the amplified PCR products were analyzed using Polyacrylamide Gel Electrophoresis (PAGE) and visualized in the Gel Doc system for linkage analysis. The Gene Hunter 2.1r5 tool in the Simple Linkage v5.052 beta software suite was used to conduct multipoint parametric linkage analysis on the two consanguineous families examined on the 6K Illumina array. Exons and intron-exon borders of all known arRP genes found in homozygous areas were sequenced in the matching probands using a 3130 automated sequencer and the Big Dye Terminator Cycle Sequencing Kit v3.1. The mutation study was carried out using the AlaMut 1.5 program. RESULTS: In both families, linkage analysis was performed using microsatellite marker DIS422 for gene crumbs homolog 1 (CRB1) and microsatellite marker D8S2332 for gene Retinitis Pigmentosa 1 (RP1). Multipoint linkage analysis identifies genomic regions that could potentially contain the genetic defect. In family RP01, only a single peak with a maximal multipoint LOD score of 3.00 was identified on chromosome 1, whereas in family RP02, multiple peaks with multipoint LOD scores of 1.80 were identified on chromosome 8. Analysis of the CRB1 gene revealed a homozygous substitution of glycine for valine (c.1152T>G; p.V243G), whereas the RP1 gene demonstrated that leucine was substituted for proline as a result of cytosine to thymine transfer (c.3419C>T; p. P1035L).  Conclusion: Homozygosity mapping is a powerful method for finding genetic abnormalities that are both precise and comprehensive for identifying harmful variations in consanguineous families. This method is invaluable for providing accurate clinical diagnostic and genetic advice in remote regions of Pakistan while also increasing knowledge about autosomal recessive diseases and the dangers of mixing.

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