Displaying publications 1 - 20 of 995 in total

Abstract:
Sort:
  1. Rajasuriar R, Chong ML, Ahmad Bashah NS, Abdul Aziz SA, Mcstea M, Lee ECY, et al.
    AIDS, 2017 06 19;31(10):1393-1403.
    PMID: 28358731 DOI: 10.1097/QAD.0000000000001475
    BACKGROUND: Aging among HIV-infected individuals on antiretroviral therapy (ART) is a significant clinical challenge; however, studies assessing multidimensional aspects of aging are lacking. We characterized 10 geriatric conditions encompassing multiple functional domains, its health impact and associated risk factors in HIV-infected and age-matched uninfected controls.

    METHODS: HIV-infected individuals were recruited from the outpatient clinic in University Malaya Medical Centre, Malaysia and controls from the community. All participants were aged at least 25 years of age with no acute illness, and HIV-infected individuals were on stable ART. Geriatric conditions were assessed and the burden scored as a composite of geriatric conditions present in an individual (total score = 10). Multivariate regression analysis was performed to determine the risk factors and health impact associated with the burden of geriatric conditions.

    RESULTS: We analyzed data from 336 HIV-infected individuals (total HIV+), of whom 172 were matched for age, sex, and ethnicity with 172 HIV-uninfected controls (matched subset). In the total HIV-positive cohort, median (interquartile range) age was 44 (38-51) years and CD4 T-cell count was 562 (398-737) cells/μl. The burden of geriatric conditions was significantly higher in the HIV-infected group compared with controls (P controls. Both sociobehavioural and HIV-related clinical factors were independently associated with an increasing burden of geriatric condition in HIV.

    CONCLUSIONS: A high burden of geriatric conditions with significant impact on health outcomes, including mortality risk scores are observed among HIV-infected individuals on ART in a resource-limited setting.

    Study site: Outpatient clinic, University Malaya Medical Centre (UMMC)
    Matched MeSH terms: Case-Control Studies
  2. Prasitsuebsai W, Sethaputra C, Lumbiganon P, Hansudewechakul R, Chokephaibulkit K, Truong KH, et al.
    AIDS Care, 2018 06;30(6):727-733.
    PMID: 29336591 DOI: 10.1080/09540121.2018.1425363
    We studied behavioral risks among HIV-infected and uninfected adolescents using an audio computer-assisted self-interview. A prospective cohort study was initiated between 2013 and 2014 in Malaysia, Thailand, and Vietnam. HIV-infected adolescents were matched to uninfected adolescents (4:1) by sex and age group (12-14 and 15-18 years). We enrolled 250 HIV-infected (48% male; median age 14.5 years; 93% perinatally infected) and 59 uninfected (51% male; median age 14.1 years) adolescents. At enrollment, HIV-infected adolescents were on antiretroviral therapy (ART) for a median (IQR) of 7.5 (4.7-10.2) years, and 14% had HIV-RNA >1000 copies/mL; 19% reported adherence <80%. Eighty-four (34%) HIV-infected and 26 (44%) uninfected adolescents reported having ever smoked cigarettes or drunk alcohol (p = 0.13); 10% of HIV-infected and 17% of uninfected adolescents reported having initiated sexual activity; 6 of the HIV-infected adolescents had HIV-RNA >1000 copies/mL. Risk behaviors were common among adolescents, with few differences between those with and without HIV.
    Matched MeSH terms: Case-Control Studies
  3. Ong JSK, Menon SK, Kew ST, Menon J, Mavros P, Thong SP, et al.
    APLAR Journal of Rheumatology, 2004;7(3):196-203.
    DOI: 10.1111/j.1479-8077.2004.00094.x
    Aims: To assess the association between non-steroidal anti-inflammatory drug (NSAID) use and upper gastrointestinal (GI) tract-related hospitalizations and to evaluate inpatient healthcare resource utilization associated with these complications in Malaysia.
    Methods: A retrospective case control study was performed using medical records of patients admitted to two Malaysian hospitals during 1999 and 2000. Cases were identified based on mode of presentation at hospital admission. One control was identified for each case, matched by age, sex and admission date. NSAID exposure was determined by drug use during one year prior to admission. Conditional logistic regression analysis was used to determine the association between NSAID use and upper GI complications, adjusting for predictors.
    Results: The 273 cases were significantly more likely to have used NSAIDs in the year prior to hospitalization than controls (27.8% vs. 6.2% of patients; P < 0.0001). Conditional logistic regression analysis adjusting for other predictors showed that the odds of being hospitalized for upper GI tract complications were 4.1 times higher among NSAID users than non-users (95% CI = 1.88-9.12). Other risk factors for GI-related hospitalizations were a history of upper GI tract complications (OR = 5.8, 95% CI = 1.28-26.53), use of gastroprotective agents (OR = 5.3, 95% CI = 1.67-16.79), and use of antacids (OR = 5.0, 95% CI = 2.10-11.91) in the previous year.
    Conclusion: This study demonstrated that NSAID exposure was significantly higher among patients hospitalized for GI-related complications than for other reasons, indicating that NSAID use is an independent risk factor for upper GI tract complications in this Malaysian sample.
    Matched MeSH terms: Case-Control Studies
  4. Saadatnia G, Mohamed Z, Ghaffarifar F, Osman E, Moghadam ZK, Noordin R
    APMIS, 2012 Jan;120(1):47-55.
    PMID: 22151308 DOI: 10.1111/j.1600-0463.2011.02810.x
    Infection with Toxoplasma gondii is widespread and important in humans, especially pregnant women and immunosuppressed patients. A panel of tests is usually required for diagnosis toxoplasmosis. Excretory secretory antigen (ESA) is highly immunogenic, and thus it is a good candidate for investigation into new infection markers. ESA was prepared from tachyzoites of RH strain of T. gondii by mice intraperitoneal infection. Sera were obtained from several categories of individuals who differed in their status of anti-Toxoplasma IgM, IgG and IgG avidity antibodies. The ESA was subjected to SDS-PAGE, two-dimensional gel electrophoresis and Western blot analysis. Antigenic bands of approximate molecular weights of 12, 20 and 30 kDa, when probed with anti-human IgM-HRP and IgA-HRP, showed good potential as infection markers. The highest sensitivity of the bands was 98.7% with combination of IgM and IgA blots with sera of patients with anti-Toxoplasma IgM+ IgG+. The specificities were 84% and 70% with sera from other infections and healthy controls in IgM blots and IgA blots respectively. By mass spectrometry, the 12 kDa protein was identified as thioredoxin. The two top proteins identified for 20 kDa molecule were microneme protein 10 and dense granule protein 7; whereas that for 30 kDa were phosphoglycerate mutase 1 and phosphoglycerate mutase.
    Matched MeSH terms: Case-Control Studies
  5. Abdul Hamid Abdul Rahman, Shamsul Azhar Shah, Normala Ibrahim
    ASEAN Journal of Psychiatry, 2009;10(2):157-168.
    MyJurnal
    Objective: The study aims to determine pattern of verbal memory and learning impairment and its associated factors among patients with bipolar I disorder in a psychiatric clinic of a university hospital. Methods: A case control study comparing verbal memory test
    performance in 40 patients with bipolar I disorder to that of 40 healthy normal subjects using Rey Auditory Verbal Learning Test (RAVLT). The association between demographic, clinical
    characteristics and poor verbal memory performance were examined. Results: Up to 92% of patients with bipolar I disorder have impaired short term working memory in this hospital-based study. They also recalled fewer words in all the RAVLT trials and had difficulties
    learning the word list in comparison to that of normal healthy individuals. Verbal memory and learning impairment are observed in bipolar illness in the absence of active mood symptoms while duration and severity of illness are not found to have any effect on verbal memory and learning. Conclusion: There is consistent verbal memory and learning problems in individuals with bipolar I disorder and their presence in the absence of mania, depression and mixed symptoms during the course of the illness suggests a trait related deficit.

    Study site: Psychiatric Clinic, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM)
    Matched MeSH terms: Case-Control Studies
  6. Veeramuthu V, Seow P, Narayanan V, Wong JHD, Tan LK, Hernowo AT, et al.
    Acad Radiol, 2018 09;25(9):1167-1177.
    PMID: 29449141 DOI: 10.1016/j.acra.2018.01.005
    RATIONALE AND OBJECTIVES: Magnetic resonance spectroscopy is a noninvasive imaging technique that allows for reliable assessment of microscopic changes in brain cytoarchitecture, neuronal injuries, and neurochemical changes resultant from traumatic insults. We aimed to evaluate the acute alteration of neurometabolites in complicated and uncomplicated mild traumatic brain injury (mTBI) patients in comparison to control subjects using proton magnetic resonance spectroscopy (1H magnetic resonance spectroscopy).

    MATERIAL AND METHODS: Forty-eight subjects (23 complicated mTBI [cmTBI] patients, 12 uncomplicated mTBI [umTBI] patients, and 13 controls) underwent magnetic resonance imaging scan with additional single voxel spectroscopy sequence. Magnetic resonance imaging scans for patients were done at an average of 10 hours (standard deviation 4.26) post injury. The single voxel spectroscopy adjacent to side of injury and noninjury regions were analysed to obtain absolute concentrations and ratio relative to creatine of the neurometabolites. One-way analysis of variance was performed to compare neurometabolite concentrations of the three groups, and a correlation study was done between the neurometabolite concentration and Glasgow Coma Scale.

    RESULTS: Significant difference was found in ratio of N-acetylaspartate to creatine (NAA/Cr + PCr) (χ2(2) = 0.22, P control group. A moderate weak positive correlation were found between Glasgow Coma Scale with NAA/Cr + PCr (ρ = 0.36, P cases of mTBI.

    Matched MeSH terms: Case-Control Studies
  7. Zulkipli ZH, Abdul Rahmat AM, Mohd Faudzi SA, Paiman NF, Wong SV, Hassan A
    Accid Anal Prev, 2012 Nov;49:237-44.
    PMID: 23036400 DOI: 10.1016/j.aap.2011.12.011
    This study presents an analysis of crash characteristics of motorcyclists who sustained spinal injuries in motorcycle crashes. The aim of the study is to identify the salient crash characteristics that would help explain spinal injury risks for motorcyclists. Data were retrospectively collected from police case reports that were archived at MIROS from year 2005 to 2007. The data were categorized into two subcategories; the first group was motorcycle crashes with spinal injury (case) and the second group was motorcycle crashes without spinal injury (control). A total of 363 motorcyclists with spinal injury and 873 motorcyclists without spinal injury were identified and analyzed. Descriptive analysis and multivariate analysis were performed in order to determine the odds of each characteristic in contributing to spinal injury. Single vehicle crash, collision with fixed objects and crash configuration were found to have significant influence on motorcyclists in sustaining spinal injury (p<0.05). Although relatively few than other impact configurations, the rear-end impacted motorcyclist shows the highest risk of spinal injury. Helmets have helped to reduce head injury but they did not seem to offer corresponding protection for the spine in the study. With a growing number of young motorcyclists, further efforts are needed to find effective measures to help reduce the crash incidents and severity of spinal injury. In sum, the study provides some insights on some vital crash characteristics associated with spinal injury that can be further investigated to determine the appropriate counter-measures and prevention strategies to reduce spinal injury.
    Matched MeSH terms: Case-Control Studies
  8. Shafiee MN, Mongan N, Seedhouse C, Chapman C, Deen S, Abu J, et al.
    Acta Obstet Gynecol Scand, 2017 May;96(5):556-562.
    PMID: 28176325 DOI: 10.1111/aogs.13106
    INTRODUCTION: Women with polycystic ovary syndrome have a three-fold higher risk of endometrial cancer. Insulin resistance and hyperlipidemia may be pertinent factors in the pathogenesis of both conditions. The aim of this study was to investigate endometrial sterol regulatory element binding protein-1 gene expression in polycystic ovary syndrome and endometrial cancer endometrium, and to correlate endometrial sterol regulatory element binding protein-1 gene expression with serum lipid profiles.

    MATERIAL AND METHODS: A cross-sectional study was performed at Nottingham University Hospital, UK. A total of 102 women (polycystic ovary syndrome, endometrial cancer and controls; 34 participants in each group) were recruited. Clinical and biochemical assessments were performed before endometrial biopsies were obtained from all participants. Taqman real-time polymerase chain reaction for endometrial sterol regulatory element binding protein-1 gene and its systemic protein expression were analyzed.

    RESULTS: The body mass indices of women with polycystic ovary syndrome (29.28 ± 2.91 kg/m(2) ) and controls (28.58 ± 2.62 kg/m(2) ) were not significantly different. Women with endometrial cancer had a higher mean body mass index (32.22 ± 5.70 kg/m(2) ). Sterol regulatory element binding protein-1 gene expression was significantly increased in polycystic ovary syndrome and endometrial cancer endometrium compared with controls (p controls and positively correlates with serum triglyceride in both polycystic ovary syndrome and endometrial cancer.

    Matched MeSH terms: Case-Control Studies
  9. Tran L, Radwan I, Minh LHN, Low SK, Hashan MR, Gomaa MD, et al.
    Acta Trop, 2021 Jan 06.
    PMID: 33421421 DOI: 10.1016/j.actatropica.2021.105823
    BACKGROUND AND OBJECTIVES: Modulation of the immune reaction is essential in the development of various diseases, including dengue's "Cytokine Tsunami", an increase in vascular permeability with concomitant severe vascular leakage. We aim to identify the role of T-helper (Th) cells, Th2 and Th7, with their related cytokines in dengue pathogenesis.

    MATERIAL AND METHODS: Nine electronic databases and manual search were applied to detect available publications. A meta-analysis using a fixed- or random-effect model was performed to measure standardized mean difference (SMD) with 95% confidence interval (CI). The National Institute of Health (NIH) tools for observational cohort, cross-sectional, and case-control studies were used to examine the risk of bias. The protocol was recorded in PROSPERO with CRD42017060230.

    RESULTS: A total of 38 articles were found including 19 case-control, 11 cross-sectional and 8 prospective cohort studies. We indicated that Th2 cytokines (IL-4, IL-6, IL-8) and Th17 cytokine (IL-17) in dengue patients were notably higher than in a healthy control group in acute phase (SMD = 1.59, 95% CI [0.68, 2.51], p = 0.001; SMD = 1.24, 95% CI [0.41, 2.06], p = 0.003; SMD = 1.13, 95% CI [0.61, 1.66], p<0.0001; SMD = 1.74, 95% CI [0.87, 2.61], p<0.0001), respectively.

    CONCLUSIONS: This study provides evidence of the significant roles of IL-4, IL-6, IL-8, IL-10 and IL-17 in the pathogenesis of developing a severe reaction in dengue fever. However, to fully determine the association of Th cytokines with dengue, it is necessary to perform further studies to assess kinetic levels during the duration of the illness.

    Matched MeSH terms: Case-Control Studies
  10. Chew FL, Yong CK, Mas Ayu S, Tajunisah I
    Age Ageing, 2010 Mar;39(2):239-45.
    PMID: 20065356 DOI: 10.1093/ageing/afp259
    BACKGROUND: hip fractures are an increasing source of morbidity and mortality in older people. The role of visual function tests such as visual impairment, stereopsis, contrast sensitivity and visual field defects in low fragility hip fractures in Asian populations is not well understood.
    OBJECTIVE: to determine the association between various visual function tests and low fragility hip fractures in an Asian population.
    DESIGN: case-control study.
    SETTING: University Malaya Medical Centre, Kuala Lumpur, Malaysia.
    SUBJECTS: 108 cases aged > or = 55 years admitted with low fragility fractures and 108 controls (matched for age, gender and race).
    METHODS: both cases and controls underwent a detailed ophthalmological examination, which included visual acuity, stereopsis, contrast sensitivity and visual field testing.
    RESULTS: poorer visual acuity (odds ratio, OR = 4.08; 95% confidence interval, CI: 1.44, 11.51), stereopsis (OR = 3.60, 95% CI: 1.55, 8.38), contrast sensitivity (OR = 3.34, 95% CI: 1.48, 7.57) and visual field defects (OR = 11.60, 95% CI: 5.21, 25.81) increased the risk of fracture. Increased falls were associated with poorer visual acuity (OR = 2.30, 95% CI: 1.04, 5.13), stereopsis (OR = 2.11, 95% CI: 1.03, 4.32), contrast sensitivity (OR = 2.12, 95% CI: 1.05, 4.30) and visual field defects (OR = 3.40, 95% CI: 1.69, 6.86).
    CONCLUSION: impaired visual acuity, stereopsis, contrast sensitivity and visual field defects are associated with an increased risk of low fragility hip fractures. We recommend that all patients aged > or = 55 should have an annual ophthalmological examination that includes visual acuity, contrast sensitivity, stereopsis and visual field testing to assess the risks for falls and low fragility fractures.
    Matched MeSH terms: Case-Control Studies
  11. Chaturvedi A, Rao G, Praharaj SK, Guruprasad KP, Pais V
    Alcohol Alcohol, 2020 Jun 25;55(4):391-394.
    PMID: 32363396 DOI: 10.1093/alcalc/agaa033
    AIM: Chronic alcohol consumption can activate and dysregulate the neuroimmune system which leads to neuroinflammation. Neuroimmune regulatory proteins (NIReg) (e.g. Cluster of Differentiation 200 (CD200)) are the regulators of innate immune response and are responsible for silencing the innate immunity and suppression of inflammation. In this study, we explored the changes of serum levels of CD200 in patients with alcohol dependence at baseline, after one-week alcohol withdrawal and after one-month of alcohol abstinence.

    METHODS: Seventeen patients with alcohol dependence admitted for de-addiction treatment and 12 healthy controls were enrolled in the study. Blood samples were collected at baseline, after one-week, and after one-month, and CD200 levels were measured using enzyme-linked immunosorbent assay kit and compared with the healthy controls.

    RESULTS: The serum level of the neuroimmune regulatory protein CD200 in alcohol dependent group (at baseline) was significantly lower compared to healthy controls (p=0.003), and increased after one-week, and one-month period.

    CONCLUSION: The present study indicates that decrease of CD200 serum levels in alcohol dependent patients and its rise during alcohol withdrawal and abstinence may provide a preliminary evidence of the role of neuroimmune regulatory proteins in neuroadaptation during alcohol withdrawal.

    Matched MeSH terms: Case-Control Studies
  12. Leecyous B, Bakhtiar F, Tang MM, Yadzir ZHM, Abdullah N
    Allergol Immunopathol (Madr), 2020 06 09;48(6):626-632.
    PMID: 32532468 DOI: 10.1016/j.aller.2020.01.006
    INTRODUCTION: Basophil activation test (BAT) and immunoassays are the most widely used in vitro tests to diagnose IgE-mediated allergic reactions to penicillin. However, studies to determine if one test is interdependent from another are limited.

    OBJECTIVE: The present study aimed to measure the agreement between BAT and immunoassay in diagnosis of penicillin allergy.

    METHOD: BAT was performed using penicillin G (Pen G), penicillin V (Pen V), penicilloyl-polylysine (PPL), minor determinant mix (MDM), amoxicillin (Amx) and ampicillin (Amp) in 25 patients. Immunoassay of total IgE (tIgE) and specific IgE (sIgE) antibodies to Pen G, Pen V, Amx and Amp were quantified. Skin prick test (SPT) using PPL-MDM, Amx, Amp and Clavulanic acid were also performed.

    RESULTS: Minimal agreement was observed between BAT and immunoassay (k=0.25). Of two BAT-positive patients, one patient is positive to Amx (59.27%, SI=59) and Amp (82.32%, SI=82) but sIgE-negative to all drug tested. This patient is also SPT-positive to both drugs. Another patient is BAT-positive to Pen G (10.18%, SI=40), Pen V (25.07%, SI=100) and Amp (19.52%, SI=79). In sIgE immunoassay, four patients were sIgE-positive to at least one of the drugs tested. The sIgE level of three patients was between low and moderate and they were BAT-negative. One BAT-positive patient had a high level of sIgE antibodies (3.50-17.5kU/L) along with relatively high specific to total IgE ratio ≥0.002 (0.004-0.007).

    CONCLUSIONS: The agreement between BAT and immunoassay is minimal. Performing both tests provides little increase in the sensitivity of allergy diagnosis work-up for immediate reactions to penicillin.

    Matched MeSH terms: Case-Control Studies
  13. Momtaz YA, Hamid TA, Ibrahim R
    Am J Alzheimers Dis Other Demen, 2013 Dec;28(8):759-62.
    PMID: 24085247 DOI: 10.1177/1533317513504612
    OBJECTIVE: The aim of this study was to identify the unique impact of mild cognitive impairment (MCI) on sexual activity among older adults.

    METHODS: Data for the study were drawn from a national survey entitled the "Determinants of Wellness among Older Malaysians: A Health Promotion Perspective" conducted in 2010.

    RESULTS: According to the Mini-Mental State Examination education-adjusted cutoff points, 15.6% of the 1046 respondents were identified as having MCI. Older adults with MCI had a significantly lower level of sexual activity than the healthy cognitive group (chi-square = 50.20, P < .001, 32.5% vs 62.3%). The results of 3-step hierarchical logistic regression model revealed that MCI is significantly associated with decreased sexual activity in community-dwelling older adults, over and beyond demographic factors, and age-related medical conditions affecting sexual activity (odds ratio 0.33, P < .001, 95% confidence interval 0.23-0.49).

    CONCLUSION: Findings from the present study support the significant role of cognitive functioning to perform sexual activity in later life.

    Matched MeSH terms: Case-Control Studies
  14. Dimitrakopoulou VI, Travis RC, Shui IM, Mondul A, Albanes D, Virtamo J, et al.
    Am J Epidemiol, 2017 Mar 15;185(6):452-464.
    PMID: 28399564 DOI: 10.1093/aje/kww143
    Genome-wide association studies (GWAS) have identified over 100 single nucleotide polymorphisms (SNPs) associated with prostate cancer. However, information on the mechanistic basis for some associations is limited. Recent research has been directed towards the potential association of vitamin D concentrations and prostate cancer, but little is known about whether the aforementioned genetic associations are modified by vitamin D. We investigated the associations of 46 GWAS-identified SNPs, circulating concentrations of 25-hydroxyvitamin D (25(OH)D), and prostate cancer (3,811 cases, 511 of whom died from the disease, compared with 2,980 controls-from 5 cohort studies that recruited participants over several periods beginning in the 1980s). We used logistic regression models with data from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3) to evaluate interactions on the multiplicative and additive scales. After allowing for multiple testing, none of the SNPs examined was significantly associated with 25(OH)D concentration, and the SNP-prostate cancer associations did not differ by these concentrations. A statistically significant interaction was observed for each of 2 SNPs in the 8q24 region (rs620861 and rs16902094), 25(OH)D concentration, and fatal prostate cancer on both multiplicative and additive scales (P ≤ 0.001). We did not find strong evidence that associations between GWAS-identified SNPs and prostate cancer are modified by circulating concentrations of 25(OH)D. The intriguing interactions between rs620861 and rs16902094, 25(OH)D concentration, and fatal prostate cancer warrant replication.
    Matched MeSH terms: Case-Control Studies
  15. Jia G, Ping J, Shu X, Yang Y, Cai Q, Kweon SS, et al.
    Am J Hum Genet, 2022 Dec 01;109(12):2185-2195.
    PMID: 36356581 DOI: 10.1016/j.ajhg.2022.10.011
    By combining data from 160,500 individuals with breast cancer and 226,196 controls of Asian and European ancestry, we conducted genome- and transcriptome-wide association studies of breast cancer. We identified 222 genetic risk loci and 137 genes that were associated with breast cancer risk at a p 
    Matched MeSH terms: Case-Control Studies
  16. Glubb DM, Maranian MJ, Michailidou K, Pooley KA, Meyer KB, Kar S, et al.
    Am J Hum Genet, 2015 Jan 08;96(1):5-20.
    PMID: 25529635 DOI: 10.1016/j.ajhg.2014.11.009
    Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER(+): odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, ptrend = 5.7 × 10(-44)) and estrogen-receptor-negative (ER(-): OR = 1.10, 95% CI = 1.05-1.15, ptrend = 3.0 × 10(-4)) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10(-5)]) and five variants composing iCHAV3 (lead rs11949391; ER(+): OR = 0.90, 95% CI = 0.87-0.93, pcond = 1.4 × 10(-4)). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.
    Matched MeSH terms: Case-Control Studies
  17. Ghoussaini M, French JD, Michailidou K, Nord S, Beesley J, Canisus S, et al.
    Am J Hum Genet, 2016 Oct 06;99(4):903-911.
    PMID: 27640304 DOI: 10.1016/j.ajhg.2016.07.017
    Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495-45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER+) breast cancer (per-g allele OR ER+ = 1.15; 95% CI 1.13-1.18; p = 8.35 × 10-30). After adjustment for rs10941679, we detected signal 2, consisting of 38 SNPs more strongly associated with ER-negative (ER-) breast cancer (lead SNP rs6864776: per-a allele OR ER- = 1.10; 95% CI 1.05-1.14; p conditional = 1.44 × 10-12), and a single signal 3 SNP (rs200229088: per-t allele OR ER+ = 1.12; 95% CI 1.09-1.15; p conditional = 1.12 × 10-05). Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the g (risk) allele of rs10941679 was associated with increased expression of FGF10 and MRPS30. Functional assays demonstrated that SNP rs10941679 maps to an enhancer element that physically interacts with the FGF10 and MRPS30 promoter regions in breast cancer cell lines. FGF10 is an oncogene that binds to FGFR2 and is overexpressed in ∼10% of human breast cancers, whereas MRPS30 plays a key role in apoptosis. These data suggest that the strongest signal of association at 5p12 is mediated through coordinated activation of FGF10 and MRPS30, two candidate genes for breast cancer pathogenesis.
    Matched MeSH terms: Case-Control Studies
  18. Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, et al.
    Am J Med Genet A, 2020 12;182(12):2939-2950.
    PMID: 32985117 DOI: 10.1002/ajmg.a.61888
    Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p 
    Matched MeSH terms: Case-Control Studies
  19. Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, et al.
    Am J Med Genet A, 2017 Jan;173(1):42-53.
    PMID: 27991738 DOI: 10.1002/ajmg.a.38043
    Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P cases; n = 132 controls) was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of 0.924, and accuracy of 0.943. Only the angles at medial canthus and ala of the nose were common significant findings amongst different ethnicities (Caucasians, Africans, and Asians) when compared to ethnically matched controls. The Asian group had the least number of significant digital facial biometrics at 4, compared to Caucasians at 8 and Africans at 7. In conclusion, this study displays the wide variety of findings across different geographic populations in Down syndrome and demonstrates the accuracy and promise of digital facial analysis technology in the diagnosis of Down syndrome internationally. © 2016 Wiley Periodicals, Inc.
    Matched MeSH terms: Case-Control Studies
  20. Burgeiro A, Fuhrmann A, Cherian S, Espinoza D, Jarak I, Carvalho RA, et al.
    Am J Physiol Endocrinol Metab, 2016 Apr 01;310(7):E550-64.
    PMID: 26814014 DOI: 10.1152/ajpendo.00384.2015
    Type 2 diabetes mellitus is a complex metabolic disease, and cardiovascular disease is a leading complication of diabetes. Epicardial adipose tissue surrounding the heart displays biochemical, thermogenic, and cardioprotective properties. However, the metabolic cross-talk between epicardial fat and the myocardium is largely unknown. This study sought to understand epicardial adipose tissue metabolism from heart failure patients with or without diabetes. We aimed to unravel possible differences in glucose and lipid metabolism between human epicardial and subcutaneous adipocytes and elucidate the potential underlying mechanisms involved in heart failure. Insulin-stimulated [(14)C]glucose uptake and isoproterenol-stimulated lipolysis were measured in isolated epicardial and subcutaneous adipocytes. The expression of genes involved in glucose and lipid metabolism was analyzed by reverse transcription-polymerase chain reaction in adipocytes. In addition, epicardial and subcutaneous fatty acid composition was analyzed by high-resolution proton nuclear magnetic resonance spectroscopy. The difference between basal and insulin conditions in glucose uptake was significantly decreased (P= 0.006) in epicardial compared with subcutaneous adipocytes. Moreover, a significant (P< 0.001) decrease in the isoproterenol-stimulated lipolysis was also observed when the two fat depots were compared, and it was strongly correlated with lipolysis, lipid storage, and inflammation-related gene expression. Moreover, the fatty acid composition of these tissues was significantly altered by diabetes. These results emphasize potential metabolic differences between both fat depots in the presence of heart failure and highlight epicardial fat as a possible therapeutic target in situ in the cardiac microenvironment.
    Matched MeSH terms: Case-Control Studies
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links