CASE SUMMARY: This is the case of a 54-year-old Malay woman with genetically confirmed FH complicated by premature coronary artery disease (PCAD). She was clinically diagnosed in primary care at 52 years old, fulfilling the Simon Broome Criteria (possible FH), Dutch Lipid Clinic Criteria (score of 8: probable FH), and Familial Hypercholesterolaemia Case Ascertainment Tool (relative risk score of 9.51). Subsequently, she was confirmed to have a heterozygous LDLR c.190+4A>T intron 2 pathogenic variant at the age of 53 years. She was known to have hypercholesterolaemia and was treated with statin since the age of 25. However, the lipid-lowering agent was not intensified to achieve the recommended treatment target. The delayed FH diagnosis has caused this patient to have PCAD and percutaneous coronary intervention (PCI) at the age of 29 years and a second PCI at the age of 49 years. She also has a very strong family history of hypercholesterolaemia and PCAD, where seven out of eight of her siblings were affected. Despite this, FH was not diagnosed early, and cascade screening of family members was not conducted, resulting in a missed opportunity to prevent PCAD.
DISCUSSION: Familial hypercholesterolaemia can be clinically diagnosed in primary care to identify those who may require genetic testing. Multidisciplinary care focuses on improving identification, cascade screening, and management of FH, which is vital to improving prognosis and ultimately preventing PCAD.
OBJECTIVE: To describe the prevalence of GORD and the use of anti-reflux medications amongst very preterm infants (<32 weeks' gestational age (GA)) in neonatal units in England and Wales.
DESIGN: Retrospective cohort study using the National Neonatal Research Database.
RESULTS: Among 58,108 infants [median GA (IQR) 29 (27-30) weeks], 15.8% (n = 9191) had a diagnosis of GORD and 36.9% (n = 12,446) received anti-reflux medications. Those who received anti-reflux medications were more preterm [GA, median (IQR): medications, 28 (26-30) vs. no medications, 30 (28-31); p
METHODS: In 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices' population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care.
RESULTS: Genetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolaemia who were managed in primary care. Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002).
CONCLUSION: Electronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. There needs to be a clearer management plan for these individuals in primary care.
TRIAL REGISTRATION NUMBER: NCT03934320.
METHODS: This is a cross sectional study. Myopic children who had been wearing ortho-K and SVSs for 12 months were recruited, and the questionnaires were distributed online. The PREP scores were obtained using a summary scoring method. The Shapiro-Wilk test was used to determine data normality. Unpaired t-test was performed for normally distributed data, and the Mann-Whitney test for non-normally distributed data. P
METHODS AND ANALYSIS: A total of 294 eligible participants will be recruited and allocated into 3 groups comprising of mHealth intervention alone, mHealth intervention integrated with personal medical nutrition therapy and a control group. Pretested structured questionnaires are used to obtain the respondents' personal information, anthropometry data, prenatal knowledge, physical activity, psychosocial well-being, dietary intake, quality of life, sleep quality and GWG. There will be at least three time points of data collection, with all participants recruited during their first or second trimester will be followed up prospectively (after 3 months or/and after 6 months) until delivery. Generalised linear mixed models will be used to compare the mean changes of outcome measures over the entire study period between the three groups.
ETHICS AND DISSEMINATION: Ethical approvals were obtained from the ethics committee of human subjects research of Universiti Putra Malaysia (JKEUPM-2022-072) and medical research & ethics committee, Ministry of Health Malaysia: NMRR ID-22-00622-EPU(IIR). The results will be disseminated through journals and conferences targeting stakeholders involved in nutrition research.
TRIAL REGISTRATION NUMBER: Clinicaltrial.gov ID: NCT05377151.
PURPOSE: To examine relationship between ulam consumption and the working memory and cognitive flexibility among aging adults from low-income households who are more susceptible to cognitive decline.
STUDY TYPE: Cross-sectional.
POPULATION/SUBJECTS: Thirty-two aging adults (45-75 years old).
FIELD STRENGTH/SEQUENCE: Task-based fMRI, 3.0T, T1 -weighted anatomical images, T2 *-weighted imaging data.
ASSESSMENT: The dietary and ulam consumption were assessed using the respective validated Dietary History and semiquantitative Food Frequency questionnaires. Working memory and cognitive flexibility were evaluated by using neuropsychological batteries (ie, mini-mental state examination [MMSE], Digit Span, and Rey auditory verbal learning test [RAVLT]) and task-based fMRI (N-back and Stroop Color Word Test [SCWT]). Brodmann's areas 9 and 46 were the regions of interest (ROIs) of DLPFC activation.
STATISTICAL TESTS: Multiple linear regression used to understand the relationship between ulam consumption and the working memory and cognitive flexibility, while analysis of covariance (ANCOVA) was used to compare the difference of working memory and cognitive flexibility among four percentiles of ulam consumption, after age, gender, and education years adjustments. Significance was decided by two-sided, P
OBJECTIVE: This study aimed to determine the effect of age on the protein profile of Malay individuals and its association with cognitive competency.
METHODS: A total of 160 individuals were recruited and grouped accordingly. Cognitive competency of each subject was assessed with several neuropsychological tests. Plasma samples were collected and analyzed with Q Exactive HF Orbitrap. Proteins were identified and quantitated with MaxQuant and further analyzed with Perseus to determine differentially expressed proteins. PANTHER, Reactome, and STRING were applied for bioinformatics output.
RESULTS: Our data showed that the Malay individuals are vulnerable to the deterioration of cognitive function with aging, and most of the proteins were differentially expressed in concordance. Several physiological components and pathways were shown to be involved, giving a hint of a promising interpretation on the induction of aging toward the state of the Malays' cognitive function. Nevertheless, some proteins have shown a considerable interaction with the generated protein network, which provides a direction of focus for further investigation.
CONCLUSION: This study demonstrated notable changes in the expression of several proteins as age increased. These changes provide a promising platform for understanding the biochemical factors affecting cognitive function in the Malay population. The exhibited network of protein-protein interaction suggests the possibility of implementing regulatory intervention in ameliorating Malay cognitive function.