A5027444390- Congenital gastrointestinal and neural anomalies
- vaccines and immunoinformatics approaches
- SARS-CoV-2 and COVID-19 Research
- Congenital Anomalies and Fetal Surgery
- Digestive system and related health
- COVID-19 diagnosis using AI
- Intestinal Malrotation and Obstruction Disorders
- Animal Virus Infections Studies
- Neurogenetic and Muscular Disorders Research
- Prenatal Screening and Diagnostics
- MicroRNA in disease regulation
- Diversity and Career in Medicine
- Ocular Infections and Treatments
- Wound Healing and Treatments
- Corneal Surgery and Treatments
- Advances in Oncology and Radiotherapy
- COVID-19 and healthcare impacts
- Gastrointestinal disorders and treatments
- Zebrafish Biomedical Research Applications
- Bacteriophages and microbial interactions
- Genetic Neurodegenerative Diseases
- Tissue Engineering and Regenerative Medicine
- Cancer Risks and Factors
- Renal and related cancers
- Pediatric Hepatobiliary Diseases and Treatments
Kyushu University
2023-2024
Universitas Gadjah Mada
2017-2022
Background Recently, SARS-CoV-2 virus with the D614G mutation has become a public concern due to rapid dissemination of this variant across many countries. Our study aims were (1) report full-length genome sequences collected from four COVID-19 patients in Special Region Yogyakarta and Central Java provinces, Indonesia; (2) compare clade distribution Indonesia ( n = 60) March September 2020 (3) perform phylogenetic analysis complete genomes different countries, including Indonesia. Methods...
Abstract Background Transmission within families and multiple spike protein mutations have been associated with the rapid transmission of SARS-CoV-2. We aimed to: (1) describe full genome characterization SARS-CoV-2 correlate sequences epidemiological data family clusters, (2) conduct phylogenetic analysis all samples from Yogyakarta Central Java, Indonesia other countries. Methods The study involved 17 patients COVID-19, including two clusters. determined full-genome using Illumina MiSeq...
MicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, findings are still inconclusive. We aimed to investigate effect of miRNA-206 and its targets, fibronectin 1 (FN1), serum deprivation response (SDPR), paired box 3 (PAX3) expressions on multifactorial HSCR in Indonesia, a genetically distinct group within Asia. determined miRNA-206, FN1, SDPR PAX3 both ganglionic aganglionic colon patients control by quantitative real-time polymerase chain...
Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common genetic neuromuscular disease in children, resulting from a defect DMD gene located on Xp21.2. The new emerging treatment using exon skipping strategy tailored to specific mutations, thus molecular diagnostics are particularly important. This study aimed detect deletion Indonesian DMD/BMD patients and analyze potential amenability by therapy. Thirty-four male were enrolled this study, 23 of them (67.6%) underwent muscle biopsy...
Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations neuregulin 1 (NRG1) gene have been implicated some cases intestinal aganglionosis. This study aims to investigate contribution NRG1 HSCR development an Indonesian population. We analyzed entire coding region 54 histopathologically diagnosed patients. All patients were sporadic non-syndromic with 53/54 (98%)...
Biliary atresia (BA) is the most common cause of neonatal jaundice, characterized by progressive and rapid liver fibrosis. Recent studies have shown that microRNAs (miRNAs) contribute to fibrogenesis. We investigated miRNA-21 impact in fibrogenesis Indonesian BA patients.There were 5, 4, 7 patients with type 2A, 2B, 3, respectively. Quantitative real-time polymerase chain reaction (qPCR) showed expression was significantly increased (18-fold) compared controls (- 4.4 ± 4.0 vs. - 0.2 4.8; p =...
Abstract Background Duchenne Muscular Dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease, characterized by progressive loss of muscle strength. Respiratory failure the main cause morbidity and mortality in DMD patients. devices have been reported to increase effectiveness cough pulmonary function, thus prolong survival rate. However, there scarcity studies about patients’ respiratory profiles usage Indonesia. Methods We recruited 8 Indonesian patients Dr. Sardjito Hospital...
Background: The semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by loss ganglion cells varying lengths gastrointestinal tract. We wished to investigate role SEMA3D variants, both rare and common as well its mRNA expression Indonesian HSCR patients. Methods: Sanger sequencing was performed 54 patients find pathogenic variant SEMA3D. Next, we determined 18 13 anorectal malformation colons controls...
Abstract Background Recently, pathogenic alleles within ubiquitin N-recognin domain-containing E3 ligase 4 ( UBR4 ) gene have been shown to be associated with Hirschsprung disease (HSCR). We determined the expressions in Indonesian HSCR patients. Methods analyzed colons of patient and anorectal malformation (ARM) as control by real-time polymerase chain reaction (qPCR). Results Thirty-seven patients non-syndromic eighteen controls were involved this study. qPCR revealed that expression was...
Some Hirschsprung’s disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed investigate SK3 expression’s impact after a properly surgery Indonesian population, genetically distinct group within Asia. assessed gene both and aganglionic colon of controls by quantitative...
<title>Abstract</title> Purpose Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is defined as a congenital visceral myopathy with genetic mutations. However, the etiology and pathophysiology are not fully understood. We aimed to generate gene <italic>leiomodin-1a</italic> (<italic>lmod1a</italic>) modification technique establish zebrafish model of MMIHS. Methods targeted <italic>lmod1a</italic> in using CRISPR/Cas9. After confirming genotype, we measured expression levels...
Objectives: Breast cancer tend to be more progressive with poorer prognosis in younger patients than those at an older age. Single Nucleotide Polymorphisms (SNPs) of P53 Pro72Arg, MDM2 SNP309, P21 Ser31Arg, ER SNP594, HER2 Ile655Val, and FGFR2 rs2981582 have drawn attention as genetic factors associated risk. However, there were contradictory results involving different races their association is still unknown Indonesian populations. This study was performed examine the proportion these six...
Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants SEMA3C Indonesian patients HSCR.In this prospective clinical study, we analyzed gene 55 HSCR through DNA sequencing bioinformatics analyses.Two were found: p.Val337Met (rs1527482) p.Val579 = (rs2272351). The variant rs1527482 (A) was significantly overrepresented our (9.1%)...
Hirschsprung disease (HSCR) is a complex genetic disorder characterized by the lack of ganglion cells in intestines. A current study showed that NRG1 rare variant frequency Indonesian patients with HSCR only 0.9%. Here, we investigated impact expressions and methylation patterns on pathogenesis HSCR.This cross-sectional determined type I (HRGα, HRGβ1, HRGβ2, HRGβ3, HRGγ, NDF43 isoforms), II III both ganglionic aganglionic colons 20 10 control real-time polymerase chain reaction (qPCR). For...
Abstract Objective: The COVID-19 pandemic has had an impact not only on clinical practices but also residency programs as important part of hospital medical services. We investigated the pediatric surgery program in our institution. Results: A questionnaire was developed, consisting 24 questions: a) perspectives residents about infection during their program; b) learning process; c) academic evaluations; and d) residents' suggestions to improve quality outbreak. Most (85.7%) agreed that...
Hirschsprung disease (HSCR) is a heterogeneous genetic characterized by the absence of ganglion cells in intestinal tract. The REarranged during Transfection (RET) most responsible gene for its pathogenesis. RET's somatic mosaicisms have been reported HSCR; however, they are still under-recognized. Therefore, we determined frequency mutation RET rs2435357 HSCR patients at our institution.We performed genotyping from 73 formalin-fixed and paraffin-embedded (FFPE) rectal 60 non-HSCR controls...
Background: Some Hirschsprung’s disease (HSCR) patients showed persistent bowel symptoms following an appropriately pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expressions in the HSCR ganglionic intestines. We aimed investigate SK3 impact after a properly surgery Indonesian population, genetically distinct group within Asia. Methods: assessed ganglionic/aganglionic colon specimens of and control using...