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Profile of Hypospadias Cases in Central Java, Indonesia Ziske Maritska; Ardy Santosa; Mahayu Dewi Ariani; Achmad Zulfa Juniarto; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 1, No 1 (2015): April 2015
Publisher : Faculty of Medicine, Diponegoro University

Background: Hypospadia is believed to be a multifactorial disease. The risk factors that may induce the formation of hypospadias are environmental factors, endocrine disruptors, and genetic factors. The aim of this study was to describe the profile of hypospadias patients who visited the Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.Methods: This study is an observational study, using patients’ medical record in CEBIOR from 2010 to 2012. The hypospadias cases were classified into syndromic, isolated and severe hypospadias based on their phenotype. The history of pregnancy, birth characteristics, and family history of the patients were described.Results: There were 120 cases of hypospadias, consisted of 48.33% severe hypospadias, 41.67% mild isolated hypospadias and 10% syndromic hypospadias. There were 38.33% hypospadias cases whose mothers were being exposed to repellant usage and 39.17% cases whose fathers were smoking. Forty (33.33%) probands’ mothers were aged above 35 years old when they gave birth to their affected son.Conclusion: Majority of hypospadias cases were severe and mild isolated. Environtmental factors including maternal age more than 35 years old, use of repellant, and smoking fathers were found in this study.

Genetic Analysis for the Diagnosis of Disorders of Sexual Development in Indonesia Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 2, No 2 (2016): December 2016
Publisher : Faculty of Medicine, Diponegoro University

Disorders of sex development (DSD) is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical, while in clinical practice this term means any abnormality of the external genitalia. DSD patients have been managed by a multidisciplinary gender team in our center as collaboration between Dr. Kariadi province referral hospital and Faculty of Medicine Diponegoro University. Diagnosis should be established by specific physical examination hormonal, chromosomal and DNA studies; and imaging for most of the cases depending on indication.Since 2004 the involvement of molecular and cytogenetic analysis so far can diagnosed many of the DSD cases. Most of the genetically proven cases were Congenital Adrenal hyperplasia, Androgen Insensitivity syndrome and sex chromosomal DSD that lead abnormal gonadal development. Many of them remain undiagnosed, further testing such as advanced DNA study should be carried out in collaboration with other center in overseas.The novel genes were found in some cases that contributed for the management of DSD. Information for medical professionals, patients, family members and community about the availability and necessity of DSD diagnosis should be delivered to improve DSD management and patient quality of life.

Focal areas of a high rate of fragile X in Indonesia: a long term follow up Sultana MH Faradz; Tri Indah Winarni
Journal of Biomedicine and Translational Research Vol 5, No 2 (2019): December 2019
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v5i2.6895

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region fragile X mental retardation 1 gene (FMR1), which is located on Xq27.3. The abnormal CGG expansion leads to methylation and transcriptional silencing of the FMR1 gene, resulting in a reduction or loss of fragile X mental retardation 1 protein (FMRP) and causes long, thin, and immature dendritic spines, which lead to deficits in cognitive function, behavioral problems, and learning ability

Polymorphisms of TLR4 Asp299Gly and TNF-α -308G/A in Leptospirosis Nur Farhanah; Muhammad Hussein Gasem; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 2, No 1 (2016): July 2016
Publisher : Faculty of Medicine, Diponegoro University

Background : TLR4 Asp299Gly and TNF-α -308G/A polymorphisms have been shown to be associated with increased susceptibility and severity of infection. TLR4 Asp299Gly polymorphism could affect the host’s ability to respond to leptospira sp. TNF-α -308G/A polymorphism, is associated with the high producer of TNF-α.Methods : Total of 36 leptospirosis patients (IgM anti leptospira and MAT positive) and healthy individual with the equal number were included. The polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using site spesific restriction enzyme.Results : Distribution of homozygous wild-type TLR4 Asp299Gly polymorphism was higher in both of groups ( 94.5:97.2%.) and homozygous mutant allele was absent. There was not significantly difference of TLR4 Asp299Gly in leptospirosis patients and healthy group ( ρ=1.00; OR 0.5; 95%CI, 0.04-5.6) and between mild and severe leptospirosis (ρ=0.54; OR 1.54 ; 95% CI, 1.20-1.98). The presence of homozygous wild-type TNF-α -308G/A polymorphism was higher between leptospirosis patients and healthy group (100:94.5%) andhomozygous mutant allele was not found in both of the groups. No significantly different of TNF-α -308G>A polymorphism between leptospirosis patient and healthy group (ρ=0.49).Conclusions : In this study, the polymorphisms of TLR4 Asp299Gly and TNF-α -308G/A were not associated with the susceptibility and severity of leptospirosis.

The Evaluation of Parental Acceptance Towards Children with Sex Chromosomal Disorders of Sex Development Using A Mixed-Method Iit Fitrianingrum; Annastasia Ediati; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 7, No 1 (2021): April 2021
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v7i1.10710

Background: Sex chromosomal Disorder of sex development (DSD) is an atypical abnormality of external genitalia which is mismatched with its sex chromosome traits. The condition of children with DSD affects the dynamics in the family. Parents’ reactions after discovering this health problem vary greatly, such as being in a state of shock, confusion, or self-blame. However, parents’ acceptance is extremely important for better quality of caring, to the healthy social and emotional child development, and to make the best decisions regarding gender assignment.Objective: To describe the acceptance process of parents that have children with sex chromosomes mosaicism DSD.Methods: This study used a mixed-method with a sequential explanatory approach, which was preceded by quantitative data collection followed by qualitative. The total respondents consisted of 14 mothers and 12 fathers of 14 sex chromosome mosaicism DSD patients with XX/XY, X/XY, XYY or XXY variants. Quantitative data were collected using the Indonesian version of the Parental Acceptance-Rejection Questionnaire (PARQ), and interviews were conducted to determine the acceptance process.Results: Most acceptance cases were based on the surgical stage completion in which a higher number of mothers (71.43%) than fathers (50%).Conclusion: It is uneasy for parents to accept children with sex chromosome mosaicisms DSD, hence the fathers struggle more than mothers in accepting those affected. To the best of our knowledge this is the first study in Indonesia to help parent understand and accept their child condition.

A Cohort Study of Intellectual Disability Focusing on Fragile X Syndrome in Indonesia Tri Indah Winarni; Farmaditya EP Mundhofir; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 2, No 1 (2016): July 2016
Publisher : Faculty of Medicine, Diponegoro University

Background: Intellectual disability (ID) is a major public health problem because the defect, treatment and rehabilitation require long life both medical and socio-economic assessment. Fragile X syndrome (FXS) is the most common cause of inherited X-linked intellectual disabilities (ID) with reduced penetrance. With regards to behavioral and emotional phenotype, FXS commonly mixed up with idiopathic autism. The prevalence is found higher in males compared to females. In accordance with rapid development of diagnosis technique, the prevalence of FXS is defining worldwide including Indonesia using, currently, simple molecular method.Objectives: This study was aimed to diagnose genetic cause of ID and to establish the prevalence of FXS among ID population in Central Java, and Yogyakarta Province.Method: Screening has been performed since 1994 continuously in high risk population (special school with and without autism) using clinical, cytogenetic, and FMR1 gene PCR-based molecular approach. Cascade testing was subjected to the family members with positive result of FXS and many new cases were disclosed in our cohort study.Results: The prevalence of FXS among ID population was calculated to be 1.9% (5/262) in 1994 and 1.7% (9/527) in 2011. Among autism population it was determined to be 6.15% (4/65). Trisomy 21 was found in 14% (74/527) as a major cause of ID.Conclusion: The prevalence of FXS among screened ID population overtime is comparable.

JAK2 V617F Analysis in Indonesian Myeloproliferative Neoplasms Patients Fanti Saktini; Santosa Santosa; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 1, No 2 (2015): December 2015
Publisher : Faculty of Medicine, Diponegoro University

Background : Three subtypes of myeloproliferative neoplasms (MPNs): Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) showed overlapping phenotype. There has been no specific cytogenetic marker identified in these subtypes. JAK2 V617F mutation prevalence in Caucasian MPNs was first reported as 97% in PV, 57% in ET, and 50% in PMF.Objective: This study was done to define the prevalence of JAK2 V617F mutation and to identify cytogenetic markers in MPNs.Methods : The study design was cross-sectional. Patients who were admitted to Dr. Kariadi Hospital with clinical diagnosis of MPNs were referred for bone marrow cytogenetic analysis in Telogorejo Hospital. JAK2 V617F mutation was tested for using Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR) from peripheral blood vein. Clinical data were secondary data retrieved from hospital medical records.Results : There was no cytogenetic abnormality found in all MPNs patients. The prevalence of JAK2 V617F mutation in MPNs patients was 73,68%. Mutation prevalence distribution in each subtypes were 100% in PV, 63,6% in ET and 100% in PMF. Conclusion : Chromosomal abnormality was not found using conventional cytogenetic analysis. More sensitive methods might elucidate submicroscopic chromosomal abnormalities in these patients. The prevalence of JAK2 V617F mutation was comparable with studies in Caucasian. It is recommended that JAK2 V617F testing should be incorporated in the management therapy of MPNs in Indonesia.

Screening A Trinucleotide Repeat Expansion: How precise PCR can be? Ziske Maritska; Baharudin Baharudin; Ardy Santosa; Ching Leng Kee; Tan Yue Ming; Sultana MH Faradz
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 3 No. 3 (2019): Bioscientia Medicina: Journal of Biomedicine and Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.32539/bsm.v3i3.94

ABSTRACT Background. Trinucleotide Repeat Expansion (TRE) in human DNA could lead to various diseases. An expanded CAG repeat (>31 or 37 repeats, depends on the ethnicity) in Androgen Receptor gene is suggested to be associated with the occurrence of isolated hypospadias. In an effort to identify the exact numbers of repeats, sequencing has been the most favored method to be conducted despite its cost. Objective. This study wished to investigate the possibilities of using Polymerase Chain Reaction (PCR) method to screen expanded repeats in isolated hypospadias, as one of the TRE diseases. Materials and Methods. Numbers of CAG repeat in twelve hypospadias patients and one normal male was first predicted from the visualization of PCR products in 3% agarose gel electrophoreses with 20 bp ladder marker before it was finally sequenced. Results. Two samples gave the same exact result, while the rest showed a range of 1-11 bp differences. Statistically, there was a significant difference between the mean of CAG repeats from PCR method (M=26.1667, SD=6.71272) and the mean of CAG repeats from sequencing (M=23.75, SD=5.70685); t(11)= 4.570, p=0.001. Furthermore, the sensitivity of PCR was 100% and the specificity was 83.33%. Conclusion. It can be concluded that PCR method could be used as a screening method in identifying TRE with large numbers of repeats. However, PCR in TRE disease with small numbers of expanded repeats needs to be followed by sequencing in order to obtain the exact numbers of repeats. Keywords: Trinucleotide Repeat Expansion, Polymerase Chain Reaction, Sequencing, Isolated Hypospadias

Molecular analyses in Indonesian individuals with intellectual disability and microcephaly Farmaditya EP Mundhofir; Rahajeng N Tunjungputri; Willy M Nillesen; Bregje WM van Bon; Martina Ruiterkamp-Versteeg; Tri I Winarni; Ben CJ Hamel; Helger G Yntema; Sultana MH Faradz
Paediatrica Indonesiana Vol 53 No 2 (2013): March 2013
Publisher : Indonesian Pediatric Society

Background Intellectual disability (ID) often coincides with anabnormal head circumference (HC). Since the HC is a reflectionof brain size, abnormalities in HC may be a sign of a brain anomaly.Although microcephaly is often secondary to ID, hereditary(autosomal recessive) forms of primary microcephaly (MCPH)exist that result in ID.Objective To investigate mutations in MCPH genes in patientswith ID and microcephaly.Methods From a population of 527 Indonesian individuals withID, 48 patients with microcephaly (9.1 %) were selected. Thesepatients were previously found to be normal upon conventionalkaryotyping, fragile X mental retardation 1 (FMRl) gene analysis,subtelomeric deletion, and duplication multiplex ligationdependentprobe amplification (MLPA). Sanger sequencing forabnormal spindle-like microcephaly-associated (ASPM) and WDrepeat domain 62 (WDR62) was performed in all 48 subjects, whilesequencing for microcephalin (MCPHl), cyclin-dependent kinase5 (CDK5) regulatory subunit-associated protein 2 (CD5KRAP2) ,centromere protein} (CENPJ), and SCUfALl interrupting locus(STIL) was conducted in only the subjects with an orbitofrontalcortex (OFC) below -4 SD.Results In all genes investigated, 66 single nucleotide polymorphisms(SNPs) and 15 unclassified variants which were predictedas unlikely to be pathogenic (lN2), were identified. Possiblepathogenic variants (lN3) were identified in ASPM. However,since none of the patients harboured compound heterozygouslikely pathogenic mutations, no molecular MCPH diagnosis couldbe established. Interestingly, one of the patients harboured thesame variants as her unaffected monozygotic twin sister, indicatingthat our cohort included a discordant twin.Conclusions This study is the first to investigate for possible geneticcauses ofMCPH in the Indonesian population. The absenceof causative pathogenic mutations in the MCPH genes tested may originate from several factors. The identification of UV2and UV3 variants as well as the absence of causative pathogenicmutations calls for further investigations.

Screening A Trinucleotide Repeat Expansion: How precise PCR can be? Ziske Maritska; Baharudin Baharudin; Ardy Santosa; Ching Leng Kee; Tan Yue Ming; Sultana MH Faradz
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 3 No. 3 (2019): Bioscientia Medicina: Journal of Biomedicine and Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.32539/bsm.v3i3.94

ABSTRACT Background. Trinucleotide Repeat Expansion (TRE) in human DNA could lead to various diseases. An expanded CAG repeat (>31 or 37 repeats, depends on the ethnicity) in Androgen Receptor gene is suggested to be associated with the occurrence of isolated hypospadias. In an effort to identify the exact numbers of repeats, sequencing has been the most favored method to be conducted despite its cost. Objective. This study wished to investigate the possibilities of using Polymerase Chain Reaction (PCR) method to screen expanded repeats in isolated hypospadias, as one of the TRE diseases. Materials and Methods. Numbers of CAG repeat in twelve hypospadias patients and one normal male was first predicted from the visualization of PCR products in 3% agarose gel electrophoreses with 20 bp ladder marker before it was finally sequenced. Results. Two samples gave the same exact result, while the rest showed a range of 1-11 bp differences. Statistically, there was a significant difference between the mean of CAG repeats from PCR method (M=26.1667, SD=6.71272) and the mean of CAG repeats from sequencing (M=23.75, SD=5.70685); t(11)= 4.570, p=0.001. Furthermore, the sensitivity of PCR was 100% and the specificity was 83.33%. Conclusion. It can be concluded that PCR method could be used as a screening method in identifying TRE with large numbers of repeats. However, PCR in TRE disease with small numbers of expanded repeats needs to be followed by sequencing in order to obtain the exact numbers of repeats. Keywords: Trinucleotide Repeat Expansion, Polymerase Chain Reaction, Sequencing, Isolated Hypospadias

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