A5000512240- Congenital gastrointestinal and neural anomalies
- Intestinal Malrotation and Obstruction Disorders
- Iron Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- Congenital Anomalies and Fetal Surgery
- Digestive system and related health
- Colorectal Cancer Treatments and Studies
- Genetic factors in colorectal cancer
- Renal and related cancers
- Renal Diseases and Glomerulopathies
- Colorectal Cancer Screening and Detection
- Mitochondrial Function and Pathology
- Pregnancy and preeclampsia studies
- Gastric Cancer Management and Outcomes
- Neonatal Health and Biochemistry
- Chronic Kidney Disease and Diabetes
- Cancer Immunotherapy and Biomarkers
- Genetic Neurodegenerative Diseases
- Vitamin D Research Studies
- Genomic variations and chromosomal abnormalities
- Gastrointestinal motility and disorders
- Neonatal Respiratory Health Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genetic and Kidney Cyst Diseases
- Neurological disorders and treatments
Padjadjaran University
2015-2025
Dr. Hasan Sadikin General Hospital
2020-2025
Erasmus MC
2012-2021
Andalas University
2019
University Medical Center Groningen
2010-2013
University of Groningen
2010-2013
Erasmus University Rotterdam
2012-2013
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which is responsible for disease (COVID-19), potentially have kidney adverse effects. This organ expressed angiotensin-converting enzyme (ACE2), the transmembrane protein facilitate entering of virus into cell. Therefore, early detection manifestations COVID-19 crucial. Previous studies showed ACE2 role in various indications this disease, especially MicroRNAs (miRNAs) affected expression. review aims at summarizing literature...
Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within distal intestine. Previous studies that have searched for genes underlying HSCR focused on ENS-related pathways and not fitting current knowledge thus often been ignored. We identify validate novel using whole exome sequencing (WES), burden tests, in silico prediction, unbiased vivo analyses...
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants the Enteric Smooth Muscle actin γ-2 (ACTG2) gene have been recently identified. To investigate mechanism by ACTG2 lead to MMIHS, we screened cohort of eleven MMIHS patients, eight sporadic and three familial cases, performed immunohistochemistry, molecular modeling dynamics (MD) simulations, vitro assays. In all variant was expression detected intestinal...
<h3>Background & Aims</h3> Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part gut. Variants ret proto-oncogene <i>(RET</i>) have been associated with up to 50% familial and 35% sporadic cases. We searched for variants that affect risk a large, multigenerational family history HSCR linkage region previously (4q31.3–q32.3) exome wide. <h3>Methods</h3> performed sequencing analyses Netherlands 5 members diagnosed 2...
The World Health Organization reports that colorectal cancer (CRC) is the second leading cause of cancer-related mortality globally, with an estimated 1.9 million new cases annually. Tumor-infiltrating lymphocytes (TILs) are frequently associated and believed to play a significant role in immune response cells. Regarding chemotherapy responses patients cancer, this study aims investigate association between nutritional status infiltrating lymphocyte counts, specifically CD4+ CD8+. This...
CXCL11 (C-X-C motif chemokine ligand 11) encodes a chemokine, small signaling protein involved in immune and inflammatory responses. This study aims to evaluate the association between gene expression variations metastasis colorectal cancer (CRC) patients, highlighting its potential as biomarker for metastasis. is observational laboratory-based utilized tissue samples from patients stored Tissue Bank of Research Unit, Division Digestive Surgery, Faculty Medicine, Universitas Padjadjaran....
The role of vitamin D in placental functions and fetal growth had been addressed many reports with conflicting results. However, such report is limited for Indonesian population. aim this study was to explore the association between maternal level first trimester biometry later stage pregnancy adjusted OR other determinants like hemoglobin ferritin level.From July 2016 a prospective cohort pregnant women begun four cities West Java, Indonesia. Data on D, ferritin, level, demography were...
Loss-of-function mutations in CLMP have been found patients with Congenital Short Bowel Syndrome (CSBS), suggesting that its encoded protein plays a major role intestinal development. is membrane co-localizes tight junction proteins, but function largely unknown. We expressed wild-type (WT)-CLMP and mutant-CLMP (associated CSBS) human epithelial T84 cells that, as we show here, do not produce endogenous CLMP. investigated the effects of WT-CLMP proteins on key cellular processes are...
Studies had shown that iron-cycling was disturbed by inflammatory process through the role of hepcidin. Pregnancy is characterized shifts interleukin. Our objective to determine if 25(OH) vitamin D (colecalciferol) status associated with ferritin, anemia, and its changes during pregnancy. Method. A cohort study done in 4 cities West Java, Indonesia, beginning July 2016. Subjects were followed up until third trimester. Examinations included maternal colecalciferol, haemoglobin level. Result....
Despite it has been reported that several loci are involved in Hirschsprung's disease, the molecular basis of disease remains yet essentially unknown. The study collective properties modules functionally-related genes provides an efficient and sensitive statistical framework can overcome sample size limitations rare diseases. Here, we present extension a previous Spanish series HSCR trios to international cohort 162 validate generality underlying functional mechanisms previously found....
Hirschsprung's disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths intestine. The RET gene major HSCR gene. Reduced penetrance mutations and phenotypic variability suggest involvement additional modifying genes in disease. A RET-dependent modifier locus was mapped to 9q31 families bearing no coding sequence (CDS) mutations. Yet, causative be identified. To fine-map region, we genotyped 301 tag-SNPs spanning 7 Mb on 137 Dutch trios. This...
INTRODUCTION: Vitamin D deficiency and anemia are examples of nutritional problems global health significance. When these issues effect pregnant women, they may become a threat to the fetus’ potention for intrauterine growth. It has been known that first trimester is golden period fetal programming which influences fetuses their life after birth. This study was aiming analyze association between maternal vitamin D, serum ferritin, hemoglobin level neonatal birth weight. METHODS: From July...
Steroid-resistant nephrotic syndrome (SRNS) is a burden in the country due to progressive severity of chronic kidney disease (CKD). Calcineurin inhibitors (CNIs) or monoclonal antibodies are currently recommended for treatment this disease. In developing countries, steroid and cyclophosphamide (CPA) available drugs used during treatment. This study aims provide non-invasive modality that can be predict response SRNS children CPA therapy. Subsequently, proteinuria duration was shortened...