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All Journal MEDIA MEDIKA INDONESIANA Journal of Nutrition and Health Jurnal Psikologi Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Jurnal Keperawatan Anak Indonesian Journal of Urology Journal of Biomedicine and Translational Research Universa Medicina Paediatrica Indonesiana Bioscientia Medicina : Journal of Biomedicine and Translational Research Bioscientia Medicina : Journal of Biomedicine and Translational Research

Sultana MH Faradz

Division Of Human Genetics, Center For Biomedical Research, Faculty Of Medicine Diponegoro University

Author-ID : 3272400

Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Nursing Public Health Social Sciences

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Frequency of MTHFR GENE C677T Polymorphism for Non-Syndromic Autism Spectrum Disorder Patients Bremmy Laksono; Ani Melani Maskoen; Tri Indah Winarni; Syarief Taufik; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 1, No 2 (2015): December 2015
Publisher : Faculty of Medicine, Diponegoro University

Background: The folate metabolism is a pathway that may involve in the non-syndromic Autism Spectrum Disorder (ASD). Methylenetetrahydrofolate reductase enzyme has a key role in folate metabolism. The C677T polymorphism of MTHFR gene could reduce the effectiveness of the enzyme.Objectives: To evaluate the frequency of MTHFR geneC677T polymorphism for non-syndromic ASD patients.Method: Thirty-four DNA samples were taken from each group. PCR mixture was consisted of 1µL DNA, 2.5µL PCR buffer, 0.5µL dNTP, 1.5µL MgCL2, 0.125µLTaqenzyme, 0.5µLofforwardandreverseprimerandaquabidesttoreach a volume of 25 µL. The PCR profiles were initiation 95ºC for 5 min, denaturation 94ºC for 1min, annealing 55ºCfor 45 seconds, and elongation 72ºC for30 seconds. The cycles were done in 35 times an dfinal elongation was at 72ºC for 5min. The PCR product was 198bp, and then digested by the Hinfl enzyme for 16hours at 37°C, and visualized using2%agarosegeland then electrophoresed for 30 minutes at 100 volts.Result: Non-syndromic ASD samples showed none had homozygote mutant type (677TT), 3 (8.8%) samples had heterozygote (677CT)and 31 (91.2%) samples had wild type (677CC). Meanwhile, normal control showed only 1 (2.9%)sample had homozygote mutant type(677TT), 9 (26.5%) samples had heterozygote (677CT)and 24 (70.6%) samples had wild type (677CC).Conclusion: The frequency of MTHFR geneC677T polymorphism in patients with non-syndromic ASD and controls are not significantly different.

Adiponutrin and Adiponectin Gene Variants in Indonesian Patients with Non-Alcoholic Fatty Liver Disease: a Preliminary Study Rayvita AN Meagratia; Ferdy Kurniawan Cayami; Udin Bahrudin; Wiwik Lestari; Nani Maharani; Sultana MH Faradz; Hery Djagat Purnomo
Journal of Biomedicine and Translational Research Vol 7, No 2 (2021): August 2021
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v7i2.11777

BackgroundVariants of adiponutrin (PNPLA3) and adiponectin (ADIPOQ) genes were considered to be associated with non-alcoholic fatty liver disease (NAFLD). Although the prevalence of NAFLD is increasing, there are limited numbers of studies about the association in Indonesian population.ObjectiveTo confirm whether specific variants of adiponutrin (PNPLA3) and adiponectin (ADIPOQ) genes are associated with NAFLD in Indonesian patients.MethodsData and DNA of 152 participants were obtained from a previous study in Dr. Kariadi Hospital, Semarang, Indonesia. PCR-RFLP analysis was performed for detection of PNPLA3 rs738409 and ADIPOQ rs2241767 variants. The diagnosis and severity of NAFLD were assessed according to NAFLD activity score (NAS) based on histopathology assessment of liverbiopsy.ResultsAllele G of PNPLA3rs738409 was associated with NAFLD in both bivariate (p=0.009, OR 2.52, CI 95% 1.25–5.07) and multivariate (p=0.008, OR 2.62, CI 95% 1.29%–5.32%) analysis, while ADIPOQ rs2241767 had no significant association. In NAFLD participants, both genotypes showed allele G was higher in the group of possible non-alcoholic steatohepatitis (NASH) – NASH (NAS >2) than in the simple steatosis group (NAS <2) i.e. 40.0% vs. 3.75% for the rs2241767 variant and 23.75% vs. 1.25% for the rs738409 variant, without significant association.ConclusionVariant PNPLA3 rs738409 was associated with NAFLD incidence in studied population. Among NAFLD participants, the frequency of both variants were found higher in the possible NASH – NASH group, yet needs to be confirmed with more participants and a multicenter study.Data and DNA of 152 participants were obtained from a previous study in Dr. Kariadi Hospital, Semarang, Indonesia. PCR-RFLP analysis was performed for detection of PNPLA3 rs738409 and ADIPOQ rs2241767 variants. The diagnosis and severity of NAFLD were assessed according to NAFLD activity score (NAS) based on histopathology assessment of liverbiopsy.

Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients Aisha Balkhar Ali; Rita Indriyati; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 4, No 1 (2018): July 2018
Publisher : Faculty of Medicine, Diponegoro University

Background: Primary amenorrhea (PA) is a symptom that can be caused by different disorders such as gonadal, endocrinal, physiological and genetic disorders. Aim of study: This study provided the clinical and cytogenetic profiles of Indonesian primary amenorrhea patients and introduced clinical criteria of those patients with their karyotype results using score system. Methods: A retrospective descriptive study of 79 PA patients, whom referred to Cytogenetic and Molecular unit Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University. We made a scoring system consisted of 4 scores, all patients had been distributed to match the scores according to their clinical criterias and then confirmed with the karyotype results. Results: The karyotype results of 79 patients of PA revealed 55 (69.6%) patients with female karyotype 46,XX; 6 (7.6%) patients with male karyotype 46,XY; 8(10.1%) patients with monosomy X; 3 (3.8%) patients with 45,X/46,XX; 3 (3.8%) patients with Isochromosome 45 X/46, X,i(Xq). Mosaicism with Y constitution 45,X/46,XY was seen in 2 (2.5%) patients; marker chromosome 45,X/46,X+mar (2%) in 1 patient (1.3%); and chromosome 1 and X translocation 46,XX,t(1;X)(p34;q25) detected in 1(1.3%) patient. Scoring system results showed that all patients with normal karyotype (46,XX/46,XY) were matched with score 1 and 2 while 17 patients with chromosomal abnormalities were matched with score 3 and 4, only 1 patient with mosaic Turner syndrome 45,X(10%)/46,XX(90%) matched score 1. Conclusion: Turner syndrome was the most common cause of primary amenorrhea which attests the importance of cytogenetic analysis for diagnosis of primary amenorrhea patients. The scoring system needs further validated for measuring reliability and validity.

Autosomal Recessive Limb Girdle Muscular Dystrophy In A Complex Consanguineous Family: The First Cases Series In Indonesia Nydia Rena Benita Sihombing; Nurin Aisyiyah Listyasari; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 3, No 2 (2017): December 2017
Publisher : Faculty of Medicine, Diponegoro University

Background: Limb girdle muscular dystrophy (LGMD) is a neuromuscular abnormality with clinical heterogeneity and various severity, where over 30 subtypes have been identified. Meanwhile, molecular diagnosis of LGMD is not commonly carried out in Indonesia. We present a large pedigree of familial LGMD, with over 14 years of follow-up.Case Presentation: A 12-year old female patient came with muscle weakness. She had toe walking since age of 6, followed by calf hypertrophy for over three years. Family history revealed complex consanguinity. Her younger sister and her parents’ cousin had similar condition, with the latter was already bedridden.Physical examination results were waddling gait, lordotic spine, and absent deep tendon reflexes. Muscle biopsy showed sign of dystrophic process. Immunoperoxidase staining of some proteins resulted normal. Single nucleotide polymorphism (SNP) array in two siblings revealed homozygosity on chromosome 15 containing CAPN3 gene of LGMD2A subtype.Recently, the patient is wheelchair bound and undergoes rehabilitation. Her sister is still able to walk with abnormal gait, while her parents’ cousin had passed away in age 55. From the multiple consanguinity, it could be concluded as autosomal recessive type LGMD.Conclusion: A large family with LGMD from Indonesia was presented with more than 14 years of care. Clinical diagnosis was made based on physical and additional examination, however molecular analysis for establishing definitive diagnosis is still limited. Further studies such as targeted or whole exome sequencing is warranted to elucidate the cause of disease. Long-term evaluation and supportive care, in addition to proper counseling may increase quality of life.

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country Nurin Aisyiyah Listyasari; Ardy Santosa; Achmad Zulfa Juniarto; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 3, No 1 (2017): July 2017
Publisher : Faculty of Medicine, Diponegoro University

Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and psychosocial. Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities.

Factors Affecting Parents' Acceptance towards Children with Familial Intellectual Disability (ID) Elsa Gusrianti; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 4, No 2 (2018): December 2018
Publisher : Faculty of Medicine, Diponegoro University

Background: Familial intellectual disability (ID) is a condition where two or more family members are affected ID, which may influence the whole family well-being. Children with intellectual disability often receive negative response from the society, which may trigger different reactions from the parents, such as denial or neglect of their child. Besides, most parents give more attention and provide the best care for their children. Factors that may influence parents’ acceptance towards children with familial ID are social support, religious coping, supporting facilities, family income, education, mothers’s age, and other significant factors.Objective: This study was aimed to analyze factors that affect parents’ acceptance towards children with familial intellectual disabilities (ID).Methods: This was an analytic observational study with cross sectional approach. Data were collected using interview with 20 mothers of familial intellectually disabled children including demographic data, pedigree construction, using Parental Rejection Questionnaire (PARQ), Brief Arab Religious Coping Scale (BARCS), Social Support Questionnaire Short Form (SSQSR) and Supporting Facilities Questionnaires. Data was analyzed using multivariate logistic regression.Results: Parents’ acceptance was significantly affect by social support (p<0.05), while religious coping, supporting facilities, family income, education, and mothers’s age did not significantly influence parents’ acceptance (p >0.05).Conclusion: Social support has influenced parent’s acceptance of their familial ID Children

Delayed Puberty in Girls with Primary Amenorrhea: A Report of Cases Fatinah Shahab; Inu Mulyantoro; Hary Tjahjanto; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 7, No 2 (2021): August 2021
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v7i2.12054

Background:Female puberty starts when the pituitary hormone producing follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which will stimulate the ovaries to produce estrogen. Delayed puberty with primary amenorrhea in female is the lack of breast development followed by the absence of menses 3 years after the initiation of breast development. Sex chromosomes have an important role in determining the sex, germ cell differentiation of foetus, and reproductive functions of an offspring, thus, sex chromosomal aberrations frequently cause primary amenorrheaCase presentation: We report two delayed puberty cases with the chief complain of primary amenorrhea. Both cases showed hypoplasia of uterus and ovaries on pelvic imaging and hormonal assay showed low of FSH. The first case was gonadal dysgenesis with 46,XX karyotype and low level of estrogen and the second case was a turner syndrome with 45,X karyotype and normal level of estrogen. Conclusion:This study reported delayed puberty with primary amenorrhea cases due to different chromosomal aberration pattern which have similar clinical features. Therefore, cytogenetic examination is needed for any primary amenorrhea cases in order to accomplish the confirmatory diagnosis and for the clinicians to make a correct intervention and treatment.

A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development Nurin Aisyiyah Listyasari; Iit Fitrianingrum; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 5, No 1 (2019): July 2019
Publisher : Faculty of Medicine, Diponegoro University

Background:Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism in sex chromosome is a major component of Disorders of Sex Development (DSD) results in a large clinical spectrum of genital ambiguity. Case Presentation:We report long term follow-up of a 15-year-old male who was evaluated for ambiguous genitalia with a karyotype of 46,XY (85%) / 46,XX (15%). He presented with abnormal urethral opening (hypospadias) and left sided undescended testis since birth. Work-up was done for cytogenetic analysis, hormonal assays, imaging, exploratory laparotomy, and hypospadias repair. For more than 15 years he was reared as a boy, with no further complaints, until he reached puberty. He then developed gynecomastia and monthly painful hematuria. MRI evaluation revealed a left adnexal cystic mass and anteflexed uterus with loculated fluid collection posterior to urinary bladder suggesting hematometra. We discuss the genetics, diagnostics, as well as genetic counseling of this patient.Conclusion: This case is reported in view of the interesting clinical presentation of this rare mosaicism. A strong emphasis on a multidisciplinary approach and close follow-up is important to ensure both physical and psychological well-being of DSD patients.

CHARGE Syndrome: An Indonesian Case Report Jessica Juan Pramudita; Agustini Utari; Tri Indah Winarni; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 3, No 1 (2017): July 2017
Publisher : Faculty of Medicine, Diponegoro University

Background: CHARGE syndrome is an autosomal dominant congenital and rare genetic disease.The prevalence of CHARGE syndrome approximately 1:12,000 births.In the previous study, the CHD7 gene mutation is responsible in about 2/3 cases of CHARGE syndrome. The syndrome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All defects are not seen in every case and a different spectrum of associations is seen in most of the cases.Method: Case was undergone physical examination by experience pediatricians, pedigree construction, and other diagnostic procedure (X-ray, echocardiography, and multi slice computer tomography (MSCT) scan).Results: A boy aged 2 years 9 months with clinical features with match major and minor criterias of CHARGE syndrome.

Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report Ni Made Indri Dwi Susanti; Inu Mulyantoro; Dik Puspasari; Nurin Aisyiyah Listyasari; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 6, No 1 (2020): April 2020
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v6i1.6218

ABSTRACT Background:Primary amenorrhea may result from congenital abnormalities in the development of the gonads, genital tract, or external genitalia or from a disturbance within the hypothalamic-pituitary-ovarian axis. Gonadal dysgenesis is a disorder of sex development in which the diagnosis is based on the histology of gonads and is the main cause of primary amenorrhea. Optimal protocol of management for phenotypic female with 46, XY gonadal dysgenesis involves prophylactic gonadectomy at diagnosis.Case Presentation: The patient was referred to our hospital at the age of 15 years old for primary amenorrhea. She was obese with no secondary sex sign. Gynecologic examination revealed a normal vagina and clitoris. Rectal Toucher examination revealed no internal genitalia structure. The laboratory data: FSH levels was above normal range, LH and testosterone levels were within normal range. Pelvic Ultrasonography uterus and vaginal structure and testis were not visualized. Cytogenetic and ARgene analysis found a 46, XY karyotype and no pathogenic variants. On laparoscopy, Mullerian structure and Wolffian remnant structure were identified and biopsies were performed. Based on histopathological examination and immunohistochemical markers of the right and left gonad showed the impression of Malignant Mixed Germ Cell-Sex Cord Stromal Tumor. SRY gene examination was positive.Examination of other DSD gene analysis has not been done. Second laparoscopy for gonadectomy and removal of Mullerian and Wolfiian remnant structure were performed. Conclusion:Chromosomal analysis should become the first line testing in primary amenorrhea followed by advanced molecular test. Multidisciplinary managements recommended for DSD cases.

Co-Authors A, Mahayu Dewi Achmad Zulfa Juniarto Agustini Utari Aisha Balkhar Ali Amir, Mentari Ani Melani Maskoen Annastasia Ediati Ardy Santosa Ardy Santosa Ardy Santosa Aulia, Siti Farhanah Baharudin Baharudin Banundari Rachmawati Ben CJ Hamel Bregje WM van Bon Bremmy Laksono Ching Leng Kee Costrie G. W Daldiyono Hardjodisatro, Daldiyono Darmono Dik Puspasari Donna Hermawati Dwi Kustiani, Dwi Eddy Sudijanto, Eddy Fanti Saktini Farmaditya EF Mundhofir, Farmaditya EF Farmaditya EP Mundhofir Farmaditya EP Mundhofir Farmaditya EP Mundhofir Fatinah Shahab Ferdy Kurniawan Cayami Hardhono Susanto Hary Tjahjanto Helger G Yntema Hery D Purnomo, Hery D Hery Djagat Purnomo Inu Mulyantoro Inu Mulyantoro Jessica Juan Pramudita Kasno Kasno Lantip Rujito Lies Anne Severijnen, Lies Anne M. Besari Adi Pramono, M. Besari Adi Mahayu Dewi Ariani Maria Belladonna Rahmawati Martina Ruiterkamp-Versteeg Muhammad Hussein Gasem Nani Maharani Ni Made Indri Dwi Susanti Niken Safitri Dyan Kusumaningrum Noor Pramono Nur Farhanah Nurin Aisyiyah Listyasari Nurin Aisyiyah Listyasari Nurin Aisyiyah Listyasari Nydia Rena Benita Sihombing Nydia Rena Benita Sihombing Octaviani Indrasari Ranakusuma Peter Hanzon, Peter R Djokomoeljanto1, R Rahajeng N Tunjungputri Rahman Jamal Rayvita AN Meagratia Rita Indriyati Rob Willemsen, Rob Santosa Santosa Sue-Mian Then Suhartono Syarief Taufik Tan Yue Ming Tri I Winarni Tri Indah Winarni Udin Bahrudin Vikawati, Nura Eky W, Costrie G. Willy M Nillesen Wiwik Lestari Ziske Maritska

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