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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

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (168.325 KB) | DOI: 10.14710/jbtr.v3i1.1225

Abstract

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.
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

Abstract

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
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

Abstract

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

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (13.082 KB) | DOI: 10.14710/jbtr.v2i1.536

Abstract

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. 
Hubungan Polimorfisme SNP8NRG433E1006 Gen Neuregulin 1 (NRG1) dengan Skizofrenia pada Etnik Jawa Cinta Cynthia Rudianto; Gara Samara Brajadenta; Alifiati Fitrikasari; Tri Indah Winarni
Global Medical & Health Communication (GMHC) Vol 6, No 1 (2018)
Publisher : Universitas Islam Bandung

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (369.834 KB) | DOI: 10.29313/gmhc.v6i1.2658

Abstract

Gen neuregulin 1 (NRG1) berfungsi penting pada perkembangan sistem saraf dan merupakan kandidat gen penyebab skizofrenia. Polimorfisme SNP8NRG433E1006 pada NRG1 merupakan salah satu faktor risiko yang sering ditemukan pada skizofrenia. Penelitian ini bertujuan menganalisis hubungan polimorfisme SNP8NRG433E1006 gen NRG1 dengan skizofrenia pada etnik Jawa. Penelitian dilakukan pada bulan Januari 2016 hingga April 2017. Sebanyak 30 pasien skizofrenia dan 30 kontrol etnik Jawa dari Rumah Sakit Jiwa Daerah (RSJD) Dr. Amino Gondohutomo Semarang memenuhi kriteria inklusi. Informed consent didapatkan dari keluarga pasien. Sampel darah EDTA dilakukan ekstraksi DNA, amplifikasi nested polymerase chain reaction (PCR), dan sekuensing. Hubungan polimorfisme SNP8NRG433E1006 gen NRG1 dengan skizofrenia dianalisis menggunakan Fisher’s exact test. Dari hasil sekuensing pada kelompok kontrol tidak ditemukan polimorfisme, sedangkan pada kelompok pasien skizofrenia ditemukan dua pasien memiliki polimorfisme SNP8NRG433E1006 dengan mutasi homozigot c.172G>A (6%). Hasil Fisher’s exact test menunjukkan tidak ada hubungan antara polimorfisme SNP8NRG433E1006 gen NRG1 dan skizofrenia pada etnik jawa (p=0,246; p>0,05). Simpulan, peran polimorfisme SNP8NRG433E1006 gen NRG1 terhadap kejadian skizofrenia pada etnik Jawa tidak terbukti. CORRELATION OF SNP8NRG433E1006 POLYMORPHISM NEUREGULIN 1 (NRG1) GENE WITH SCHIZOPHRENIA IN JAVA ETHNICNeuregulin 1 (NRG1) gene has some important roles in nervous system development and functioning. This gene leading as one of schizophrenia susceptibility gene. SNP8NRG433E1006 of NRG1 is one risk factors of schizophrenia. The objective of this study was to analyse correlation between SNP8NRG433E1006 of NRG1 and schizophrenia in Java ethnic. The study was conducted in January 2016 until April 2017. Thirty patients with schizophrenia and 30 control in which from Java ethnic at Dr. Amino Gondohutomo Semarang Mental Hospital were recruited. Informed consent was obtained from patient’s family. The blood sample went throught DNA extraction, nested PCR and sequencing. Correlation between SNP8NRG433E1006 of NRG1 and schizophrenia was analysed using Fisher’s exact test. All blood sampling were successfully sequenced. We found two SNP8NRG433E1006 of NRG1 with homozygote mutation c.172G>A in thirty Java ethnic with schizophrenia (6%). There was no significant correlation between SNP8NRG433E1006 of NRG1 and schizophrenia in Java ethnic (p=0.246, p>0.05). In conclusion, the role of SNP8NRG433E1006 of NRG1 polymorphism in schizophrenia is not proven.
Anthropometric Markers, Visceral Adipocyte Index, Inflammation Markers and Bone Density in Reproductive Obese Women Meita Hendrianingtyas; Lisyani B.Suromo; Tri Indah Winarni
Jurnal Gizi Indonesia (The Indonesian Journal of Nutrition) Vol 10, No 2 (2022): Juni
Publisher : Department of Nutrition Science, Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jgi.10.2.135-140

Abstract

Background: Obesity has been associated with the risk of various diseases. The correlation between anthropometry and bone health is complex. Visceral adipocyte index (VAI) is one of the compositions of body fat compositions that mostly associated with proinflammatory cytokine, which can stimulate C- reactive protein (CRP) that affects bone density.Objectives: This study aimed to prove the correlation between VAI, CRP and BMD in Asian reproductive obese womenMaterials and Methods: A cross sectional study was conducted in November 2020 - February 2021 and a total of 134 women of reproductive age with obesity participated in this study. Weight, height, body mass index (BMI) and rate of visceral fat were measured by body composition analyzer. Waist (WC) and hip circumferences (HC) measured by using tape; lipid profile and CRP level were examined using a clinical chemistry automatic analyzer, and the examination of bone mineral density (BMD) using dual-energy x-ray absorptiometry. Waist to hip ratio (WHR)and VAI calculated manually. Pearson and Spearman test were used for statistical analysis.Results: There were positive weak correlations between weight, height, BMI, WC, HC, rate of visceral fat, WHR and VAI. There were weak positive correlations between HC, WHR and CRP. There were positive moderate correlations between weight, height, BMI, waist, visceral fat, WHR and CRP. Conclusion: Although there were correlations between anthropometric parameters and VAI and also CRP, but we did not found correlation between VAI and CRP to all BMD parameters.
Parathyroid Hormone-25(OH)D and Calcium-Phosphorus Ratio as Osteopenia Risk Factors in Women with Central Obesity Meita Hendrianingtyas; Banundari Rachmawati; Ignatius Riwanto; Budi Mulyono; Suhartono Suhartono; Tri Indah Winarni; Lisyani Budipardigdo Suromo
The Indonesian Biomedical Journal Vol 14, No 2 (2022)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v14i2.1816

Abstract

BACKGROUND: Central obesity has a close association with inflammation and the state of bone mass. Osteopenia is an abnormal condition of bone density. Bone mass density is influenced by several factors, such as 25(OH)D, parathyroid hormone (PTH), calcium (Ca) and phosphorus (P). The aim of this study was to evaluate the role of PTH-25(OH)D and Ca-P ratio as risk factors for osteopenia in women with central obesity.METHODS: A cross-sectional study was conducted in September 2020 to March 2021. The total subjects were 130 women aged 25-50 years old with central obesity. The diagnosis of osteopenia was done using dual X-ray absorptiometry (DXA) to measure bone mineral density. Enzyme linked fluorescent assay (ELFA) method was done to measure PTH and 25(OH)D levels, ion selective electrode method to measure Ca, and photometer method to measure P level. The receiver operating characteristic (ROC) curve was used to determine the optimal cut-off value and calculated prevalence ratio (PR) for osteopenia risks, followed by logistic regression analysis.RESULTS: The PR of PTH level was 10.18 (95% CI: 1.15–5.85; p=0.01); the PTH-25(OH)D ratio was 5.12 (95% CI: 1.13–23.19; p=0.04); Ca level was 6.0 (95% CI: 1.33–27.14; p=0.02) and Ca-P ratio was 4.89 (95%CI: 1.33–17.97; p=0.02). The PR for PTH together with Ca level was 18.71 (95% CI: 2.17–160.40; p=0.008).CONCLUSION: The PTH-25(OH)D ratio and the Ca-P ratio are risk factors for the incidence of osteopenia in women with central obesity. A high PTH-25(OH)D ratio and a high Ca-P ratio would have a higher risk of developing osteopenia in this population.KEYWORDS: CRP, PTH-25(OH)D, Ca-P, osteopenia, central obesity, women
Status Antropometri pada Anak dengan Sindrom Down di Indonesia: Kurva Sindrom Down versus Kurva Internasional Selvia Eva Sabatini; Tithasiri Audi Audi Rahardjo; Vynda Ulvyana; Ferdy Kurniawan Cayami; Tri Indah Winarni; Agustini Utari
Sari Pediatri Vol 24, No 1 (2022)
Publisher : Badan Penerbit Ikatan Dokter Anak Indonesia (BP-IDAI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/sp24.1.2022.44-50

Abstract

Latar belakang. Sindrom Down merupakan kondisi abnormalitas jumlah kromosom yang paling sering ditemui. Anak dengan sindrom Down memiliki pola pertumbuhan yang berbeda dibandingkan dengan anak pada umumnya sehingga kurva pertumbuhan standar tidak bisa diterapkan untuk anak dengan sindrom Down. Di Indonesia, kurva internasional seperti kurva WHO dan CDC sering dipakai untuk menilai pertumbuhan anak dengan sindrom Down. Tujuan. Membandingkan status antropometri anak dengan sindrom Down menggunakan kurva sindrom Down dan kurva internasional.Metode. Penelitian belah lintang dilakukan pada 100 anak dengan sindrom Down, interpretasi hasil pengukuran (Z-score) meliputi length for age (LAZ)/height for age (HAZ), weight for age (WAZ) dan body mass index (BMI) menggunakan kurva sindrom Down, kurva CDC 2000, dan kurva WHO. Analisis Anova dan Friedman dilakukan untuk membandingkan hasil pengukuran antropometri ketiga kurva.Hasil. Penelitian ini melibatkan 53 (53%) anak laki-laki dan 47 (47%) anak perempuan sindrom Down dengan median usia 1,62 tahun (min-maks 0,04-11,42). Terdapat perbedaan bermakna pada LAZ/HAZ pada ketiga kurva pertumbuhan (p=0,00). Pada interpretasi HAZ antar kurva, didapatkan perbedaan bermakna (p=0.00), tetapi tidak ditemukan perbedaan bermakna pada interpretasi status gizi dari ketiga kurva tersebut. Kesimpulan. Terdapat perbedaan status pertumbuhan anak dengan sindrom Down dengan kurva sindrom Down dan kurva internasional.
Pengaruh Terapi Deep Pressure Terhadap Ketenangan Siswa Sekolah Dasar: Studi Pendahuluan menggunakan Elektroensefalogram (EEG) Maula, Mohamad Izzur; Mursyd, Ariq Imam; Pramudtya, Reza; Husaini, Farhan Ali; Afif, Ilham Yustar; Winarni, Tri Indah; Jamari, Jamari
ROTASI Vol 26, No 1 (2024): VOLUME 26, NOMOR 1, JANUARI 2024
Publisher : Departemen Teknik Mesin, Fakultas Teknik, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/rotasi.26.1.15-20

Abstract

Individu dengan kondisi kesehatan tertentu, seperti gangguan integrasi sensorik/sensory integration disorder (SID) dan spektrum gangguan autisme/autism spectrum disorder (ASD) sering mengalami pengalaman yang menantang seperti kewalahan terhadap situasi baru, jika dipicu dapat berubah menjadi hiperarousal dan kecemasan. Deep pressure telah digunakan sebagai metode terapeutik untuk mengurangi masalah tersebut. Studi ini mencari potensi keuntungan dari terapi deep pressure dengan tujuan menerapkan pendekatan baru untuk menilai efek menenangkan dari terapi rompi deep pressure yang dapat diinflasi menggunakan EEG untuk mengukur aktivitas otak. Studi awal ini melibatkan 5 anak laki-laki dari sekolah dasar. Rompi yang dapat mengembung (inflatable) dan rompi yang diberi beban digunakan untuk mendapatkan efek menenangkan, dan elektroensefalogram (EEG) digunakan untuk mengukur aktivitas otak yang diperoleh dalam tiga fase yang berbeda: 1 menit sebelum (pret-est), 3 menit selama (on-test), dan 1 menit setelah eksperimen (post-test) pada 5 subjek. Sinyal EEG direkam menggunakan Muse Headband dan dianalisis menggunakan EEGLAB. Tiga gelombang otak seperti theta, alpha, dan beta relative band energies dipertimbangkan. Nilai-nilai ini sangat penting dalam menentukan apakah ada penurunan yang signifikan dalam tingkat stres atau kecemasan untuk setiap perlakuan dibandingkan dengan yang lain. Hasil statistik mengilustrasikan, posttest dari sub-gelombang energi relatif alpha meningkat sementara sub-gelombang energi beta dan theta relatif menurun dibandingkan dengan pretest. Studi ini menunjukkan peningkatan efek menenangkan di antara siswa. Secara keseluruhan, temuan kami menunjukkan potensi rompi yang dapat diinflasi dan rompi berat bervibrasi sebagai alat berharga untuk terapi deep pressure.
Control Design of Automatic Inflatable Vest for Deep Pressure Therapy Husaini, Farhan; Maula, Mohammad; Ammarullah, Muhammad; Afif, Ilham; Lamura, M Danny; Winarni, Tri Indah; Jamari, J
ROTASI Vol 26, No 1 (2024): VOLUME 26, NOMOR 1, JANUARI 2024
Publisher : Departemen Teknik Mesin, Fakultas Teknik, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/rotasi.26.1.28-34

Abstract

This research focuses on enhancing the control system of the commercial inflatable vest to optimize pressure regulation for deep pressure therapy (DPT) in children with autism spectrum disorder (ASD). The main goal is to provide a safe and reliable DPT experience with calming effects. The proposed control system incorporates a feedback loop mechanism to maintain the desired pressure level and includes safety features to prevent overinflation. The study dis-cusses the development of the pressure control system, covering both hardware and software components. Experimental results demonstrate the system's effectiveness in maintaining the target pressure with the average error is 1.531%. This study has successfully advanced deep pressure therapy devices, emphasizing the significance of automatic pressure control that meets the criteria for medical gas pressure (error no greater than 5%) and incorporates safety features as a therapy device.