A5026625850- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Leprosy Research and Treatment
- Prenatal Screening and Diagnostics
- Diabetic Foot Ulcer Assessment and Management
- Liver Disease Diagnosis and Treatment
- Public Health and Nutrition
- Medicinal Plant Research
- RNA modifications and cancer
- Congenital heart defects research
- Endoplasmic Reticulum Stress and Disease
- Protein Tyrosine Phosphatases
- Genomics and Rare Diseases
- Medicinal Plants and Neuroprotection
- Connective tissue disorders research
- Birth, Development, and Health
- Moringa oleifera research and applications
- Silkworms and Sericulture Research
- Piperaceae Chemical and Biological Studies
- Pressure Ulcer Prevention and Management
- Gene expression and cancer classification
- Diverticular Disease and Complications
- BRCA gene mutations in cancer
- RNA Research and Splicing
Diponegoro University
2011-2024
Radboud University Nijmegen
2011-2016
Radboud University Medical Center
2011-2016
Center for Human Genetics
2013
Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification FMR1 mutation leads to new treatment options. This study focused on determining prevalence gene among ASD Indonesia. DSM-IV-TR criteria were administered diagnose ASD; symptom severity was classified using Childhood Autism Rating Scale. Cytogenetic analysis, polymerase chain reaction, and Southern blot for analysis carried out confirm diagnosis fragile syndrome. The site full...
Genetic factors play a significant role in the etiology of intellectual disability (ID). The goal this study was to identify microscopically visible chromosomal abnormalities an Indonesian ID population and determine their frequency, pattern, clinical features. A total 527 intellectually disabled individuals from special schools institutions 4 different areas on Java Island, Indonesia, were screened for cytogenetic abnormalities. Additional analyses carried out verification or further...
Unbalanced subtelomeric chromosomal rearrangements are often associated with intellectual disability (ID) and malformation syndromes. The prevalence of such has been reported to be 5-9% in ID populations.To study the Indonesian population.We tested 436 subjects unexplained using multiplex ligation dependent probe amplification (MLPA) specific designed sets probes detect human imbalances (SALSA P070 P036D). If necessary, abnormal findings were confirmed by other MLPA kits, fluorescent situ...
The prevalence of Fragile X Syndrome (FXS) is 1 in 4000 males and 2500 females, respectively, the general population. Several screening studies aimed at determining FXS have been conducted individuals with intellectual disabilities (IDs) a varying from 1.15% to 6.3% across different ethnic groups. A previous study Indonesia showed an 1.9% among ID rapid, effective, inexpensive method for FMR1 screening, using dried blood spots capable detecting expanded allele both was recently reported. We...
Apert syndrome (AS) is a rare autosomal dominant disorder characterised by craniosynostosis and limb malformations, associated with congenital heart disease other systemic including intellectual disability.We report two Indonesian patients AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) p.Pro253Arg (c.758C>G) mutations the fibroblast growth factor receptor 2 (FGFR2) gene, respectively.Although has been frequently described, this first clinical of AS confirmed Indonesia.The...
We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, subtelomeric MLPA analysis. Subsequent genome wide array analysis performed on DNA blood revealed 1.1 Mb deletion in 14q32.2q32.31 (chr14:100,388,343-101,506,214; hg19). carrier testing the parents by...
Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, recognizable facial phenotype, and multiple congenital anomalies. The striking phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, heart defects, hypospadias, Hirschsprung disease are particularly important clues for the initial clinical diagnosis. All molecularly confirmed...
One of the most serious and devastating complications diabetes mellitus is diabetic ulcers. They are difficult to treat often result in limb loss. Topical sucralfate platelet-rich plasma have potential improve healing outcomes chronic ulcers, including This research aims determine effectiveness therapy for improvement ulcer wound healing.Ninety Wistar rats were used this study classified into five groups. Four groups induced treated with topical only, combination plasma, control group which...
Specific patterns of the hereditary breast and ovarian cancer (HBOC) syndrome are related to mutations in BRCA1 gene. One hundred unrelated patients were interviewed obtain clinical symptoms signs, pedigree familial history HBOC cancer. Subsequently, data calculated using Breast Ovarian Analysis Disease Incidence Carrier Estimation Algorithm (BOADICEA) risk prediction model. Patients with high score BOADICEA offered genetic testing. Eleven BOADICEA, 2 low patient's family members 15 controls...
Background: Intellectual disability (ID) is a major public health problem because the defect, treatment and rehabilitation require long life both medical socio-economic assessment. Fragile X syndrome (FXS) most common cause of inherited X-linked intellectual disabilities with reduced penetrance. With regards to behavioral emotional phenotype, FXS commonly mixed up idiopathic autism. The prevalence found higher in males compared females. In accordance rapid development diagnosis technique,...
Objective: This study aimed to evaluate the effect of catfish (Pangasius hypophthalmus) oil on hs-CRP and transthyretin levels undernourished Wistar rats.
 Methods: Thirty male rats were divided into five equal groups. Healthy control (KN) is normal that consumed a standard diet only negative (K-) protein-free only. Undernourished protein free at doses 0.020 ml/200 g-body-weight/d, 0.040 g-body-weight/d 0.060 classified P1, P2 P3 groups, respectively. Hs-CRP parameter inflammatory...
Background: Leprosy is an infectious disease caused by Mycobacterium leprae bacteria which still the focus of a global problem and causes disability in patients. The degree leprosy assessed as mild severe result inflammatory process. This study aims to determine relationship between IL-6 serum levels biomarker Methods: A Cross-sectional observational analytical on patients aged 20-60 years, not pregnant, undergoing treatment at Donorojo Jepara Hospital from March April 2024. Serum were...
Background: Ulcers are one form of chronic wounds as complication experienced by leprosy sufferers. In the process healing such ulcers, TGF-β has a broad role. Several studies have stated that in wound conditions there is decrease levels so increasingly difficult to heal. This study aims determine relationship between serum and degree ulcer healing. Methods: an observational analysis with cross-sectional design involved 33 patients undergoing treatment at dr. Rehatta Jepara Hospital period...
Moringa oleifera Lam. atau tanaman kelor dikenal dengan berbagai khasiat medisnya. telah terbukti memiliki banyak manfaat kesehatan, termasuk efek antitumor, antiinflamasi, antioksidan, dan antimikroba. Penelitian ini bertujuan untuk menganalisis ekstrak daun sebagai terapi adjuvan terhadap kadar faktor pertumbuhan dalam penyembuhan luka, yaitu TGF-β, pada pasien ulkus kusta. eksperimental menggunakan desain pre- and post-randomized single-blinded controlled trial. membandingkan kelompok...
Fragile X-associated disorders caused by the premutation of FMR1 gene, includes fragile tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% males over age 50 and 75% 80. molecular analysis was done using PCR confirmed Southern Blot. Three were diagnosed quantification based on standard neurological examination. Cognitive impairment assessed Raven WAIS-R test. MRI to identify middle cerebellar peduncle (MCP) sign, white matter disease and/or cerebral atrophy. cases are identified,...
AbstrakPenderita sindrom Down (SD) sering mengalami gangguan sistem imun, yangmenyebabkan kerentanan terhadap infeksi, tingginya angka kesakitan dan kematian.Polimorfisme gen TNF-α -308G>A berkaitan dengan peningkatan infeksi.Tujuan penelitian ini adalah untuk mengetahui polimorfisme pada penderitaSD di Semarang. Penelitian merupakan deskriptif, jumlah sampel 68orang (34 penderita SD 34 kontrol) yang ada laboratorium CEBIOR. Pemeriksaanpolimorfisme dilakukan menggunakan metode PCR-RFLP...
Background Intellectual disability (ID) often coincides with anabnormal head circumference (HC). Since the HC is a reflectionof brain size, abnormalities in may be sign of anomaly.Although microcephaly secondary to ID, hereditary(autosomal recessive) forms primary (MCPH)exist that result ID.Objective To investigate mutations MCPH genes patientswith ID and microcephaly.Methods From population 527 Indonesian individuals withID, 48 patients (9.1 %) were selected. Thesepatients previously found...
Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with worldwide prevalence of approximately 1:1,000 to 1:2,500. The characterized by distinctive facial features, congenital heart defects (CHD), and short stature. Distinctive features consist broad high forehead, hypertelorism, downslanting palpebral fissures, arched palate, low set posteriorly rotated ears thick helix, neck excess nuchal skin posterior hairline. Additional frequent include chest...