Articles

Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting

Duchenne Muscular Dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease, characterized by progressive loss of muscle strength. Respiratory failure is the main cause of morbidity and mortality in ...

Authors: Kristy Iskandar, Sunartini, Andika Priamas Nugrahanto, Nissya Ilma, Alvin Santoso Kalim, Guritno Adistyawan, Siswanto and Roni Naning

Biofilm formation and antibiotic resistance of Klebsiella pneumoniae isolated from clinical samples in a tertiary care hospital, Klaten, Indonesia

Klebsiella pneumoniae (K. pneumoniae) is a common cause of health-care associated infections (HAIs) and has high levels of antibiotic resistance. These bacteria are well-known for their ability to produce biofilm...

Authors: Hera Nirwati, Kian Sinanjung, Fahrina Fahrunissa, Fernando Wijaya, Sarastia Napitupulu, Vania P. Hati, Mohamad S. Hakim, Andreanita Meliala, Abu T. Aman and Titik Nuryastuti

The 1-monolaurin inhibit growth and eradicate the biofilm formed by clinical isolates of Staphylococcus epidermidis

Biofilm is one of the causes of antibiotic resistance. One of the biofilm-producing bacteria is Staphylococcus epidermidis which has been proven to infect long-term users of urinary catheters and implant devices....

Authors: Andre Krislee, Chaerul Fadly, Dwi Aris Agung Nugrahaningsih, Titik Nuryastuti, Febri Odel Nitbani, Jumina and Eti Nurwening Sholikhah

Risk factors of preoperative Hirschsprung-associated enterocolitis

Hirschsprung-associated enterocolitis (HAEC) is a life-threatening complication of Hirschsprung disease (HSCR), that might occur preoperatively. We investigated the risk factors of preoperative HAEC.

Authors: Dicky Yulianda, Andy Indra Sati, Akhmad Makhmudi and Gunadi

Heparanase upregulation from adipocyte associates with inflammation and endothelial injury in diabetic condition

Diabetes Mellitus (DM) is one of the metabolic diseases which leads to fatty tissue injury, and consequently inducing lipotoxicity and cellular senescence. This condition contributes to endothelial dysfunction...

Authors: Nur Arfian, Wiwit Ananda Wahyu Setyaningsih, Muhammad Mansyur Romi and Dwi Cahyani Ratna Sari

Outcome of adult congenital heart disease patients undergoing cardiac surgery: clinical experience of dr. Sardjito hospital

Patients with congenital heart disease require surgery to correct the cardiac defect they had in order to prevent heart failure. Unfortunately, data regarding outcome of adult CHD in Indonesia is still limited...

Authors: Juni Kurniawaty and Yunita Widyastuti

Low BRAF V600 mutation prevalence in primary skin nodular melanoma in Indonesia: a real-time PCR detection among Javanese patients

Cutaneous melanoma is a rare, aggressive skin malignancy with a high mortality rate. Although only contributing 7.6% of the cases worldwide, Asia is responsible for 18.6% of deaths from cutaneous melanoma. BRA...

Authors: Hanggoro Tri Rinonce, Rovi Panji Mustiko Aji, Ni’mah Hayati, Maria Fransiska Pudjohartono, Bidari Kameswari and Irianiwati

The effect of 5α-oleandrin on keloid fibroblast activities

Keloids develop due to hyperactivity of keloid fibroblast (KF) in proliferation, migration, and collagen deposition along with low rates of collagen degradation. These are a result of the Wnt/β catenin signali...

Authors: Ishandono Dachlan, Yohanes Widodo Wirohadidjojo, Mae Sri Hartati Wahyuningsih, Teguh Aryandono, Hardyanto Soebono and Dwiki Afandy

A diagnostic approach for differentiating abdominal tuberculosis from ovarian malignancy: a case series and literature review

Abdominal tuberculosis is an uncommon variant of extrapulmonary tuberculosis. It accounts for 3.5% of extrapulmonary tuberculosis. Diagnosis of abdominal tuberculosis is still a challenge due to its non-specif...

Authors: Moh Nailul Fahmi and Annisaa Pelita Harti

Effect of gamma-mangostin on testosterone levels in Leydig cell culture of Sprague-Dawley rat induced by advanced glycation end products: a preliminary study

Advanced glycation end products (AGE) is a toxic compound in the human body that can deteriorate health and induce an inflammatory response. One of the type of cells affected is Leydig cells, cells that produc...

Authors: Dicky Moch Rizal, Aditya Rifqi Fauzi and Rustamaji

Conference Proceedings – 4^th International Conference on Molecular Diagnostics and Biomarker Discovery: Antibody Technology

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Correction to: Community participation and private sector engagement are fundamental to achieving universal health coverage and health security in Africa: reflections from the second Africa health forum

Following publication of the original article [1], the authors reported the following author name error is the article:

Authors: Olushayo Olu, Pamela Drameh-Avognon, Emil Asamoah-Odei, Francis Kasolo, Tomas Valdez, Grace Kabaniha, Humphrey Karamagi, Suvajee Good, Helena O’Malley, Zabulon Yoti, Nirina Razakazoa, Etienne Minkoulou, Jean-Marie Dangou, Symplice Mbola Mbassi, Mariano Salazar Castellon, Joseph Cabore…

Abstracts from the 4^th Asian Conference in Pharmaceutical Sciences (Asia Pharm IV)

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Ageing, frailty and resilience in Botswana: rapid ageing, rapid change. Findings from a national working group meeting and literature review

The demography of Botswana is rapidly changing. Successes in tackling communicable diseases and economic development increased life expectancy from 53.7 years in 2006 to 66.8 years in 2016. The prevalence of d...

Authors: Barbara Lachana Onen, Ciara Harris, Agnieszka Ignatowicz, Justine Davies, Michalis Drouvelis, Andrew Howes, Oathokwa Nkomazana, Churchill Lukwiya Onen, Elizabeth Sapey, Billy Tsima and Daniel Lasserson

Community participation and private sector engagement are fundamental to achieving universal health coverage and health security in Africa: reflections from the second Africa health forum

Inadequate access to quality health care services due to weak health systems and recurrent public health emergencies are impediments to the attainment of Universal Health Coverage and health security in Africa...

Authors: Olushayo Olu, Pamela Drameh-Avognon, Emil Asamoah-Odei, Francis Kasolo, Thomas Valdez, Grace Kabaniha, Humphrey Karamagi, Suvajee Good, Helena O’Malley, Zabulon Yoti, Nirina Razakazoa, Etienne Minkoulou, Jean-Marie Dangou, Symplice Mbola Mbassi, Mariano Salazar Castellon, Joseph Cabore…

Abstracts from the 8th International Conference for Healthcare and Medical Students (ICHAMS)

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CISBETI 2019 - International Congress of Health, Well-Being, Technology and Innovation

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Abstract Book - 4^th B Chromosome Conference

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Proceedings of the 2017 Advancing the Science of Community Engaged Research (CEnR) Conference

To address an urgent need to advance the field of community engaged research, faculty at Vanderbilt University Medical Center and Meharry Medical College organized the national meeting "Advancing the Science o...

Authors: Al Richmond, Sergio Aguilar-Gaxiola, Eliséo J. Perez-Stable, Usha Menon, Chanita Hughes-Halbert, Karriem S. Watson, Regina Greer-Smith, Courtney Clyatt, Jonathan N. Tobin and Consuelo H. Wilkins

Proceedings of Advancing the Science of Community Engaged Research (CEnR): Innovative and Effective Methods of Stakeholder Engagement in Translational Research: abstracts

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People and research: improved health systems for West Africans, by West Africans - report on special supplement

Authors: Sue Godt, Sharmila Mhatre and Anne-Marie Schryer-Roy

Addressing challenges in children’s mental health in disaster-affected areas in Japan and the Philippines – highlights of the training program by the National Center for Global Health and Medicine

Natural disasters such as earthquakes, typhoons, floods, and volcanic eruptions frequently occur in Republic of Philippines and mental health care for children affected by these natural disasters is a major pu...

Authors: Masahide Usami, Marian Fe Theresa Lomboy, Naoko Satake, Crystal Amiel M. Estrada, Mitsuya Kodama, Ernesto R. Gregorio Jr, Yuriko Suzuki, Ramir B. Uytico, Minerva P. Molon, Ikuhiro Harada, Keita Yamamoto, Kumi Inazaki, Hirokage Ushijima, Cynthia Leynes, Jun Kobayashi, Romeo R. Quizon…

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity. Classic symptoms include neonatal respiratory d...

Authors: Hannah Farley, Bruna Rubbo, Zuzanna Bukowy-Bieryllo, Mahmoud Fassad, Myrofora Goutaki, Katharine Harman, Claire Hogg, Claudia E. Kuehni, Susana Lopes, Kim G. Nielsen, Dominic P. Norris, Ana Reula, Nisreen Rumman, Amelia Shoemark, Hannah Wilkins, Agatha Wisse…

Abstracts from the 3rd BEAT-PCD Conference and 4th PCD Training School

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Cholera prevention and control in Asian countries

Cholera remains a major public health problem in many countries. Poor sanitation and inappropriate clean water supply, insufficient health literacy and community mobilization, absence of national plans and cro...

Authors: Mesbah Uddin Ahmed, Mario Baquilod, Claudio Deola, Nguyen Dong Tu, Dang Duc Anh, Cindy Grasso, Anu Gautam, Wan Mansor Hamzah, Seng Heng, Sopon Iamsirithaworn, Musal Kadim, S. K. Kar, Mai Le Thi Quynh, Anna Lena Lopez, Julia Lynch, Iqbal Memon…

Abstracts from the 7th International Conference for Healthcare and Medical Students (ICHAMS)

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Evaluation of a phenotype imputation approach using GAW20 simulated data

Statistical power, which is the probability of correctly rejecting a false null hypothesis, is a limitation of genome-wide association studies (GWAS). Sample size is a major component of statistical power that...

Authors: Yuning Chen, Gina M. Peloso and Josée Dupuis

Logistic Bayesian LASSO for detecting association combining family and case-control data

Because of the limited information from the GAW20 samples when only case-control or trio data are considered, we propose eLBL, an extension of the Logistic Bayesian LASSO (least absolute shrinkage and selectio...

Authors: Xiaofei Zhou, Meng Wang, Han Zhang, William C. L. Stewart and Shili Lin

Gene-methylation epistatic analyses via the W-test identifies enriched signals of neuronal genes in patients undergoing lipid-control treatment

An increasing number of studies are focused on the epigenetic regulation of DNA to affect gene expression without modifications to the DNA sequence. Methylation plays an important role in shaping disease trait...

Authors: Rui Sun, Haoyi Weng, Ruoting Men, Xiaoxuan Xia, Ka Chun Chong, William K. K. Wu, Benny Chung-Ying Zee and Maggie Haitian Wang

Genome-wide linkage scan for loci influencing plasma triglyceride levels

We conducted a genome-wide linkage scan to detect loci that influence the levels of fasting triglycerides in plasma. Fasting triglyceride levels were available at 4 time points (visits), 2 pre- and 2 post-feno...

Authors: Juan M. Peralta, Nicholas B. Blackburn, Arthur Porto, John Blangero and Jac Charlesworth

Evaluating the performance of gene-based tests of genetic association when testing for association between methylation and change in triglyceride levels at GAW20

Although methylation data continues to rise in popularity, much is still unknown about how to best analyze methylation data in genome-wide analysis contexts. Given continuing interest in gene-based tests for n...

Authors: Jason Vander Woude, Jordan Huisman, Lucas Vander Berg, Jenna Veenstra, Abbey Bos, Anya Kalsbeek, Karissa Koster, Nathan Ryder and Nathan L. Tintle

Methods to evaluate rare variants gene-age interaction for triglycerides

Triglycerides are an important measure of heart health. Although more than 90 genes have been found to be associated to lipids, they only explain 12 to 15% of the variance in lipid levels. Evidence suggests th...

Authors: Tony Huayang Gao, Jianjun Zhang, Diaz Medina Miguelangel and Xuexia Wang

Assessment of fenofibrate-methylation interactions on triglycerides using longitudinal family data

Triglyceride (TG) concentrations decrease in response to fenofibrate treatment, and also are associated with DNA methylation. But how interactions between fenofibrate response and DNA methylation affect TGs re...

Authors: Jih-Chang Yu, Fang-Chi Hsu and Yen-Feng Chiu

Analysis of genetic and nongenetic factors influencing triglycerides-lowering drug effects based on paired observations

Obesity is a risk factor for heart disease, stroke, diabetes, high blood pressure, and other chronic diseases. Some drugs, including fenofibrate, are used to treat obesity or excessive weight by lowering the l...

Authors: Zheng Xu, Qing Duan, Juan Cui, Yumou Qiu, Qidong Jia, Cong Wu and Jennifer Clarke

Homozygosity disequilibrium associated with treatment response and its methylation regulation

Homozygosity disequilibrium (HD), indicating a nonrandom pattern of sizable runs of homozygosity that deviates from a random allocation of homozygous and heterozygous genotypes in the genome, is an important p...

Authors: Hsin-Chou Yang and Chia-Wei Chen

An efficient analytic approach in genome-wide identification of methylation quantitative trait loci response to fenofibrate treatment

The study of DNA methylation quantitative trait loci (meQTLs) helps dissect regulatory mechanisms underlying genetic associations of human diseases. In this study, we conducted the first genome-wide examinatio...

Authors: Jiayi Wu Cox, Devanshi Patel, Jaeyoon Chung, Congcong Zhu, Samantha Lent, Virginia Fisher, Achilleas Pitsillides, Lindsay Farrer and Xiaoling Zhang

Identifying fenofibrate responsive CpG sites

As part of GAW20, we analyzed the familiality and variability of methylation to identify cytosine-phosphate-guanine (CpG) sites responsive to treatment with fenofibrate. Methylation was measured at approximate...

Authors: Rita Cantor, Linda Navarro and Calvin Pan

Family-based genome-wide association of inflammation biomarkers and fenofibrate treatment response in the GOLDN study

In this paper we analyzed whole-genome genetic information provided by GAW20 from the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) study for family data. Lipid levels such as triglycerides (TGs) a...

Authors: Sarmistha Das, Pronoy Kanti Mondal, Saurabh Ghosh and Indranil Mukhopadhyay

Using penalized regression to predict phenotype from SNP data

In a typical genome-enabled prediction problem there are many more predictor variables than response variables. This prohibits the application of multiple linear regression, because the unique ordinary least s...

Authors: Svetlana Cherlin, Richard A. J. Howey and Heather J. Cordell

Methods for detecting methylation by SNP interaction in GAW20 simulation

To examine whether single-nucleotide polymorphism (SNP) by methylation interactions can be detected, we analyzed GAW20 simulated triglycerides at visits 3 and 4 against baseline (visits 1 and 2) under 4 genera...

Authors: E. Warwick Daw, James Hicks, Petra Lenzini, Shiow J. Lin, Judy Wang, Christine Williams, Ping An, Michael A. Province and Aldi T. Kraja

Data for GAW20: genome-wide DNA sequence variation and epigenome-wide DNA methylation before and after fenofibrate treatment in a family study of metabolic phenotypes

GAW20 provided participants with an opportunity to comprehensively examine genetic and epigenetic variation among related individuals in the context of drug treatment response. GAW20 used data from 188 families (

Authors: Stella Aslibekyan, Laura Almasy, Michael A. Province, Devin M. Absher and Donna K. Arnett

Heritability and genetic associations of triglyceride and HDL-C levels using pedigree-based and empirical kinships

The heritability of a phenotype is an estimation of the percent of variance in that phenotype that is attributable to additive genetic factors. Heritability is optimally estimated in family-based sample popula...

Authors: Nicholas B. Blackburn, Arthur Porto, Juan M. Peralta and John Blangero

Genome-wide analysis in multiple-case families: assessing the relationship between triglyceride and methylation

The main goal of this paper is to estimate the effect of triglyceride levels on methylation of cytosine-phosphate-guanine (CpG) sites in multiple-case families. These families are selected because they have 2 ...

Authors: Angga M. Fuady, Renaud L. M. Tissier and Jeanine J. Houwing-Duistermaat

Evidence of batch effects masking treatment effect in GAW20 methylation data

Using the real data set from GAW20, we examined changes in the distribution of DNA methylation before and after treatment. Paired analysis of differences in both mean and variance had grossly inflated type 1 e...

Authors: Angelo J. Canty and Andrew D. Paterson

CpG-set association assessment of lipid concentration changes and DNA methylation

Epigenome association studies that test a large number of methylation sites suffer from stringent multiple-testing corrections. This study’s goals were to investigate region-based associations between DNA meth...

Authors: Kaiqiong Zhao, Lai Jiang, Kathleen Klein, Celia M. T. Greenwood and Karim Oualkacha

Network analysis of drug effect on triglyceride-associated DNA methylation

DNA methylation, an epigenetic modification, can be affected by environmental factors and thus regulate gene expression levels that can lead to alterations of certain phenotypes. Network analysis has been used...

Authors: Elise Lim, Hanfei Xu, Peitao Wu, Daniel Posner, Jiayi Wu, Gina M. Peloso, Achilleas N. Pitsillides, Anita L. DeStefano, L. Adrienne Cupples and Ching-Ti Liu

Direct and indirect genetic effects on triglycerides through omics and correlated phenotypes

Even though there has been great success in identifying lipid-associated single-nucleotide polymorphisms (SNPs), the mechanisms through which the SNPs act on each trait are poorly understood. The emergence of ...

Authors: Anne E. Justice, Annie Green Howard, Lindsay Fernández-Rhodes, Misa Graff, Ran Tao and Kari E. North

A deep neural network based regression model for triglyceride concentrations prediction using epigenome-wide DNA methylation profiles

Epigenetic modification has an effect on gene expression under the environmental alteration, but it does not change corresponding genome sequence. DNA methylation (DNAm) is one of the important epigenetic mech...

Authors: Md. Mohaiminul Islam, Ye Tian, Yan Cheng, Yang Wang and Pingzhao Hu

Investigating potential causal relationships between SNPs, DNA methylation and HDL

Using data on 680 patients from the GAW20 real data set, we conducted Mendelian randomization (MR) studies to explore the causal relationships between methylation levels at selected probes (cytosine-phosphate-...

Authors: Lai Jiang, Kaiqiong Zhao, Kathleen Klein, Angelo J. Canty, Karim Oualkacha and Celia M. T. Greenwood

Application of Bayesian networks to GAW20 genetic and blood lipid data

Bayesian networks have been proposed as a way to identify possible causal relationships between measured variables based on their conditional dependencies and independencies. We explored the use of Bayesian ne...

Authors: Richard A. J. Howey and Heather J. Cordell