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ANALISIS GEN GSTM1 NULL, GSTT1 NULL, RASIO GSH/GSSG DAN KADAR LOGAM BERAT TERHADAP DERAJAT AUTISM SPEKTRUM DISORDER Hermawati, Donna; A, Mahayu Dewi; Utari, Agustini; Winarni, Tri Indah; Faradz, Sultana MH
JNH (Journal of Nutrition and Health) Vol 7, No 2 (2019): JNH (JOURNAL OF NUTRITION AND HEALTH)
Publisher : Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (473.941 KB) | DOI: 10.14710/jnh.7.2.2019.1-10

Abstract

Background : Autism Spectrum Disorder (ASD) is an behavioral disorder included in multifactorial disease. Several theory said that genetics factor, parental age, immunologic dysfunction, chemical induced, heavy metal intoxication and oxidative stress are related to ASD. A study about genetics and environmental factor is very important. High polymorphism of GSTM1 and GSTT1 genes were reported in autism population. The measurement of heavy metal concentration in hair specimen has been done to know excretion ability of the body. GSTM1 null and GSTT1 null polymorphism in subjects with autism, reflect individual vulnerability for environmental induced, such as heavy metal. Objectives : The objectives of this study was to know the frequency of GSTM1 null and GSTT 1null od ASD patients compare to the wildtype and the heavy metal concentration (Pb and Hg) of ASD patients Methods: Blood samples and hair specimen were collected from thirty eight autism children of Autism School in Semarang, Surakarta and Probolinggo. The Multiplex Polymerase Chain Reaction was used to analyze GSTM1 and GSTT1 gene. The GSH and GSSG concentration were done using ELISA. Heavy metal (Pb) concentration of hair specimen were done using  Atomic Absorption Spectrophotometer. Results : The higher frequency of GSTM1 null & GSTT1 null were obtained in ASD children compared to the wildtype. The average of  Pb concentration reached beyond the maximum standart (3,34 ppm).
Hubungan Kadar Lipid Darah dan hsCRP pada Anak Obesita Anindita Soetadji; Agustini Utari; Rina Pratiwi; Maria Mexitalia; Hertanto W Subagjo
Medica Hospitalia : Journal of Clinical Medicine Vol. 2 No. 3 (2014): Med Hosp
Publisher : RSUP Dr. Kariadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.36408/mhjcm.v2i3.190

Abstract

Latar belakang : Obesitas telah menjadi epidemi global karena prevalensi dan komplikasinya baik pada anak maupun dewasa. Meskipun aterosklerosis telah diketahui dimulai pada masa anak, tetapi sampai sekarang belum ada penanda aterosklerosis dini khususnya pada anak. Tujuan penelitian ini adalah mencari hubungan antara kadar lipid darah dengan hsCRP sebagai penanda dini aterosklerosis pada anak. Metode : Desain penelitian adalah belah lintang. Tempat penelitan di SMP Domenico Savio, salah satu SMP di Semarang, yang telah diketahui tinggi angka obesitasnya. Dinilai indeks massa tubuh (IMT) dan persentase lemak tubuh pada murid usia 12-14 tahun, serta kadar lipid darah (kolesterol total, LDL, HDL serta trigliserida) dari darah puasa. Sampel dipilih secara acak, dihitung dengan rumus untuk uji korelasi, dibutuhkan sampel 35 anak obesitas, dan diambil 35 anak normal sebagai pembanding, maka total subyek penelitian minimal adalah 70 orang. Hasil : Terdapat perbedaan kadar trigliserid (95%CI;0,13-0,26) dan hsCRP (95%CI;0,37-0,87) pada kelompok obesitas dan kontrol. Pada seluruh subyek, hsCRP berhubungan sedang dengan IMT (r=0,445;p< 0,05) dan persen lemak tubuh (r=0,44;p<0,05) serta hubungan lemah antara kadar HDL dan hsCRP (r=-0,227; p<0,05). Simpulan : Kadar hsCRP akan meningkat bila terjadi peningkatan IMT dan persentase lemak tubuh, sedangkan kadar HDL kolesterol bersifat protektif terhadap peningkatan hsCRP
Diagnosis dan Tatalaksana Hiperplasia Adrenal Kongenital Agustini Utari
Medica Hospitalia : Journal of Clinical Medicine Vol. 4 No. 1 (2016): Med Hosp
Publisher : RSUP Dr. Kariadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (193.913 KB) | DOI: 10.36408/mhjcm.v4i1.249

Abstract

Hiperplasia Adrenal Kongenital (HAK) merupakan suatu kelainan autosomal resesif yang menyebabkan terjadinya gangguan pembentukan kortisol akibat defek enzimatik pada steroidogenesis. Tipe HAK terbanyak adalah defisiensi 21hidroksilase. Manifestasi klinik HAK akibat defisiensi 21hidroksilase secara umum bisa dbagi menjadi tipe klasik dan non klasik. Tipe klasik dibedakan menjadi dua kelompok yakni tipe salt wasting (kekurangan garam) dan simple virilizing. Diagnosis ditegakkan berdasarkan peningkatan kadar serum 17 hidroksiprogresteron (17OHP). Pengobatan utama adalah dengan memberikan glukokortikoid dengan atau tanpa mineralokortikoid
Assessing Worry in Children: Psychometric Evaluation of the Indonesian Version of the Penn State Worry Questionnaire for Children (PSWQ-C) Annastasia Ediati; Agustini Utari
Journal of Educational, Health and Community Psychology Vol 8 No 1 March 2019
Publisher : Universitas Ahmad Dahlan

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (145.16 KB) | DOI: 10.12928/jehcp.v8i1.10527

Abstract

The Penn State Worry Questionnaire for Children (PSWQ-C) is a well-known 14-items self-report measure of worry in children and adolescents. Previous studies reported favorable psychometric properties in clinical and non-clinical samples, but recommendations given to use the full version or the shortened version of PSWQ-C are inconclusive. As a standardized measure of worry was not available in Indonesia prior to the study, the present study aims to evaluate the Indonesian version of PSWQ-C as a measure of worry on children and to assess worry in a large non-clinical sample of Indonesian children. We conducted forward-backward translation and applied the Indonesian translation of PSWQ-C on 653 children (3rd to 5thgrades) from four state elementary schools in Semarang city. Furthermore, we also conducted comparison analysis across gender and grades. Principal component analysis resulted in two-factor structure of 14 items as well as a one-factor structure comprised 11 items. The reversed scoring items had poor psychometric qualities. The Indonesian version of 11-items PSWQ-C has satisfactory internal consistency (α = 0.808). Young girls significantly scored higher than boys, but no significant differences were found across grades. The Indonesian version of the 11-item PSWQ-C demonstrated favorable psychometric properties to be applied in the future studies. Intervention to prevent or reduce anxiety and depression in young children should consider gender and grades differences. 
Gangguan Perilaku pada Anak Perempuan dengan Hiperplasia Adrenal Kongenital: Persepsi Orang Tua Nida Hanifah; Annastasia Ediati; Mahayu Dewi Ariani; Sultana MH Faradz; Agustini Utari
Sari Pediatri Vol 22, No 2 (2020)
Publisher : Badan Penerbit Ikatan Dokter Anak Indonesia (BP-IDAI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/sp22.2.2020.65-70

Abstract

Latar belakang. Paparan androgen sejak prenatal diduga berdampak pada banyak aspek perkembangan anak perempuan dengan Hiperplasia Adrenal Kongenital (HAK). Namun, data mengenai gangguan emosi atau gangguan perilaku pada anak dengan HAK di Indonesia masih terbatas.Tujuan. Mengetahui problem emosi/perilaku pada anak dengan HAK.Metode. Penelitian ini menggunakan desain belah lintang. Subyek penelitian diambil dari 11 anak perempuan dengan HAK berumur 6-18 tahun. Kontrol (n=11) diambil dari anak tanpa HAK dengan umur dan jenis kelamin yang sesuai dengan sampel. Data diambil dengan kuesioner CBCL/6-18 yang diisi oleh orang tua. Analisis data menggunakan Uji Mann-Whitney untuk melihat perbedaan skor antara anak dengan HAK dan tanpa HAK.Hasil. Terdapat perbedaan perilaku yang signifikan antara anak dengan HAK dan kontrol (p<0,05) dalam hal problem sosial, problem perhatian, perilaku agresif, dan gangguan perilaku secara keseluruhan (skor total). Ada kecenderungan anak dengan HAK mengalami lebih banyak problem internalisasi daripada anak tanpa HAK, tetapi statistik kurang mendukung (p=0,052). Namun demikian, nilai T-score pada anak dengan HAK masih dalam rentang normal (T<65).Kesimpulan. Asesmen dan pendampingan psikologis bagi anak dengan HAK sangat diperlukan, terutama pada anak perempuan dengan HAK. Penanganan HAK secara dini dapat segera dilakukan untuk mencegah eskalasi problem psikologis pasca pubertas.
A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM) Nydia Rena Benita Sihombing; Asri Purwanti; Agustini Utari
Journal of Biomedicine and Translational Research Vol 4, No 2 (2018): December 2018
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (857.779 KB) | DOI: 10.14710/jbtr.v4i2.3578

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Background: Trisomy 18 is one of the most prevalent chromosomal aberrations in newborns, with characteristic features of internal organs such as heart and kidney abnormalities, as well as craniofacial and musculoskeletal anomalies. We present a rare case of trisomy 18 with atypical features of split-hand/split-foot malformation (SHFM).Case Presentation: A four-months-old baby was brought to hospital with dyspnea and history of multiple congenital anomalies (MCA). Abnormalities found including brachycephaly, facial dysmorphisms, split hands and split feet. Other anomalies were atrial and ventricular septal defects, umbilical hernia, and right lung atelectasis. Based on physical examination and additional workups, SHFM was suspected. Genome-wide array analysis revealed gain on entire chromosome 18. Only few cases of trisomy 18 with SHFM have been reported, with split feet as the most findings. Conclusion: This case represents SHFM as a unique limb involvement in patient with trisomy 18, a valuable finding to be taken into account in trisomy 18 features. Careful examination and diagnosis as well as subsequent genetic counseling are granted, and routine cytogenetic analysis is vital as a first-tier diagnostic workup on patient with MCA.
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.
The Correlations between Cord Blood Leptin and Leptin Level at Six Months with Infant Growth Ika Rara Rosita; Agustini Utari; Maria Mexitalia
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.v7i2.11821

Abstract

Background: Leptin plays an important role in regulating body weight, metabolism, and reproductive functions. Leptin affects metabolism by reducing nutrient intake and increasing energy expenditure which eventually also plays a role in infant growth.Objective: This study aims to determine the relationship between leptin levels and infant growth age 0-6 months.Methods: A prospective cohort study was done for six months on 38 infants, age 0-6 months, from breastfeeding mothers with normal pregnancies. The samples were taken twice, firstly when the infant was born using an umbilical cord blood sample, and secondly at the age of six months, using a vein blood sample. Serum leptin levels were measured using the ELISA method. Infant growth was assessed using WHO 2005’s z-scores.Results: A total of 50 babies were included in the study, 38 of them had been studied completely. Significant correlations were found between the mean of the umbilical cord and six months of age leptin levels (p <0.001), between delta leptin with WHZ and delta leptin with WAZ at six months of age (p = 0.002 and p = 0.003, respectively), and between leptin levels with WHZ (p<0.001) and leptin levels with WAZ (p = 0.004) at six months of age. Leptin levels at the age of six months are lower than umbilical cord blood leptin. Conclusion: The greater decrease of leptin level in the first six months is associated with better infant growth.
Insulin-like growth factor-1 and growth in infants 0-6 months of age Bob Kevin Pardede; Agustini Utari; Maria Mexitalia
Paediatrica Indonesiana Vol 61 No 2 (2021): March 2021
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi61.2.2021.89-93

Abstract

Background During infancy, growth is affected by many factors, including hormones. Insulin-like growth factor-1 (IGF-1) is a hormone with an important role in regulating somatic growth and organ development. Objective To analyze for possible correlations between IGF-1 levels and infant growth from 0-6 months of age. Methods A prospective study was conducted on 38 infants from birth to 6 months of age. Inclusion criteria were full-term newborns with normal birth weight and singleton birth. Serum IGF-1 was measured twice, from umbilical cord blood at birth and at 6 months of age. Anthropometric measurements were made every three months. Paired T-test was used to analyze mean IGF-1 among time points, and Pearson’s correlation test was used to analyze IGF-1 levels and growth. Results Mean IGF-1 level decreased from birth to 6 months of age (89.6 ng/mL vs. 48.3 ng/mL, respectively; P<0.001). Delta IGF-1 had positive significant correlations with delta weight at 3 months (r=0.347; P=0.033) and 6 months (r=0.386; P=0.017), as well as delta head circumference at 3 months (r= 0.356; P=0.028) and 6 months (r=0.357; P=0.028). However, there were significant negative correlations between umbilical cord IGF-1 with delta body weight (r= −0.459; P=0.004) and delta length at 6 months (r= −0.414; P=0.010). Conclusions. There iss a decrease in IGF-1 levels at the first 6 months of life. Umbilical cord IGF-1 level has negative correlations with the weight and length increment at the age of 6 months.
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.