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All Journal Journal of Nutrition and Health Journal of Educational, Health and Community Psychology Journal of Biomedicine and Translational Research Sari Pediatri Paediatrica Indonesiana Medica Hospitalia Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML) Diponegoro International Medical Journal (DIMJ) Media Publikasi Promosi Kesehatan Indonesia (MPPKI) eJournal Kedokteran Indonesia Indonesian Journal of Biomedicine and Clinical Sciences
Agustini Utari
Bagian Ilmu Kesehatan Anak, Fakultas Kedokteran Universitas Diponegoro Semarang
Biochemistry, Genetics & Molecular Biology Dentistry Education Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Nursing Public Health

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Clinical Characteristics of Down Syndrome with Congenital Heart Disease Safira Azzahra; Agustini Utari; Anindita Soetadji
eJournal Kedokteran Indonesia Vol 10, No. 1 - April 2022
Publisher : Faculty of Medicine Universitas Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (352.793 KB) | DOI: 10.23886/ejki.10.108.33-8

Abstract

Down syndrome (DS) or trisomy 21, causes overexpression of genes in most affected organs, including congenital heart disease (CHD). CHD is found in 40-60% of people with DS, with a high mortality rate in early life.Clinical signs and symptoms often found are essential indicators of early diagnosis of CHD. This study aimed todetermine the clinical characteristics of DS children with and without CHD. This study was a retrospective study.The study was conducted on August until October 2019. We took data from the inpatient and outpatient medicalrecords database for the years 2017-2019 in Dr. Kariadi Hospital, Semarang, Indonesia. Some informationincludes clinical signs and symptoms, nutritional status, comorbidities, and frequency of hospitalization in amonth were collected.  A total of 66 patients were diagnosed with DS, consisting of 44 DS patients with CHDand 22 DS patients without CHD. There were no differences in nutritional status, interrupted breastfeeding, chestretraction, respiratory rate, thyroid disorder, hearing abnormalities, acute otitis media, and obstructive sleepapnea in both groups (p> 0.05). There were significant differences in the clinical characteristics of cyanosis(p=0.005), heart murmur (p=<0.001), and frequency of acute respiratory tract infection in a year (p=<0.001), andfrequency of hospitalization per month (p=0.039) in DS children with and without CHD. In conclusion, we foundsignificant difference in clinical characteristic in DS children with and without CHD.
Disorders of Sex Development: A Review of Medical and Psychosocial Aspects Saktini, Fanti; Asikin, Hang Gunawan; Sarjana A.S, Widodo; Utari, Agustini
Diponegoro International Medical Journal Vol 5, No 2 (2024): December 2024
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/dimj.v5i2.25084

Abstract

Background: Disorders of Sex Development (DSD) refer to a spectrum of congenital conditions involving atypical chromosomal, gonadal, or phenotypic development. Although recent studies have improved our understanding of the medical management of DSD, the psychosocial impact and the role of multidisciplinary care in addressing these challenges remain less well known.Objective: This review aims to examine the classification, diagnostic approaches, and medical and psychosocial challenges associated with DSD, while also highlighting the importance of multidisciplinary support.Methods: A narrative review was conducted to explore the current research and clinical guidelines on DSD, including studies on medical management and psychosocial interventions.Results: The review found that early diagnosis and management are essential to reducing life-threatening risks and psychosocial distress in individuals with DSD. The impact of societal stigma, gender identity complexities, and increased rates of anxiety and depression were observed to contribute to body image concerns. A multidisciplinary care team, involving psychiatrists, endocrinologists, and other specialists, was highlighted as critical for holistic patient care.Conclusion: The findings underscore the importance of a multidisciplinary approach in addressing both the medical and psychosocial aspects of DSD. While collaborative decision-making and individualized care strategies showed positive outcomes, further research is needed to optimize long-term health and quality of life for individuals with DSD.
Down Syndrome Combined with Robertsonian Translocation (13;14) Carrier Lestari, Esa Loyallita; Utari, Agustini; Winarni, Tri Indah; Hendrianingtyas, Meita
INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY Vol. 31 No. 2 (2025)
Publisher : Indonesian Association of Clinical Pathologist and Medical laboratory

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24293/ijcpml.v31i2.2205

Abstract

Down Syndrome (DS) is a genetic disorder in the form of adding chromosome 21 due to abnormal cell division. This condition causes a distinctive physical appearance and intellectual impairment. The prevalence of DS is between 10-11 out of 10,000 live births worldwide. A 2-week-old baby presented with complaints of jaundice with the clinical picture of DS. There was a mild increase in fT4 levels, and TSH levels were still within the reference value range. Karyotype examination showed Robertsonian translocation of chromosomes 13 and 14 and several abnormalities, namely trisomy 21.
Incidence rate of depression and factors affecting children and adolescents with type 1 diabetes mellitus (T1DM) in Semarang, Central Java Fadia Raihani Aprilia Herenda; Tanjung Ayu Sumekar; Agustini Utari; Fanti Saktini
Indonesian Journal of Biomedicine and Clinical Sciences Vol 57 No 3 (2025)
Publisher : Published by Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.22146/inajbcs.v57i3.16897

Abstract

Type 1 diabetes mellitus (T1DM) is characterized by pancreatic ß-cell damage due to an autoimmune process that causes a lack of endogenous insulin production. In 2018, 1,220 children with T1DM was reported in Indonesia. Children and adolescents with T1DM require lifelong insulin treatment leading to diabetes distress and depression. Type 1 diabetes mellitus and psychological problems are bidirectionally interconnected. This study aimed to determine the incidence of depression and influencing factors in children and adolescents with T1DM in Semarang City, Indonesia. This analytical observational study with a crosssectional design was conducted from March to October 2023 at Diponegoro National Hospital and Dr. Kariadi General Hospital, Semarang, using consecutive sampling. The inclusion criteria were children aged 7–17 years diagnosed with T1DM and receiving treatment. Parents of respondents provided informed consent before their children completed the Children’s Depression Inventory (CDI) questionnaire to assess depression. A CDI score of ≥13 was classified as indication of depression. The data were analyzed descriptively and bivariately using Chi-square and Fisher’s exact tests. Among 27 respondents, 8 children were diagnosed with depression and 19 respondents scored on the guilt subscale of the CDI questionnaire, indicating moderate depressive symptoms. Approximately 30% of children and adolescents with T1DM were diagnosed with depression. The most influential factor associated with this depression was a history of chronic disease in children.
Edwards Syndrome and Trisomy 8: a case report of a newborn with multiple congenital anomalies with double aneuploidy Utari, Agustini; Maharani, Nani; Indriyati, Rita; Sihombing, Nydia Rena Benita; Sarosa, Gatot Irawan; Winarni, Tri Indah
Paediatrica Indonesiana Vol. 65 No. 4 (2025): July 2025
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi65.4.2025.350-6

Abstract

Chromosomal aneuploidy is the most common genetic cause of multiple congenital anomalies (MCA), contributing to high neonatal mortality and morbidity rates in intensive care units. Prevalence of live birth double trisomy is rarely reported, with previous studies reporting the involvement of autosomal aneuploidy combined with sex chromosomal aneuploidy that is a more tolerable or benign phenotype. Mostly, a live-born baby with a double trisomy is associated with mosaicism.  This report aims to present a rare case of a viable baby with non-mosaic double autosomal trisomy involving chromosomes 8 and 18. A term baby from advanced maternal and paternal age with low birth weight and height was born from spontaneous vaginal delivery from unremarkable pregnancy. The phenotype was suitable with Edward syndrome with congenital heart anomalies confirmed by cytogenetic analysis with additional extra chromosome 8 (48, XX,+8,+18). The baby was on and off the mechanical ventilator due to respiratory failures, and her health condition gradually deteriorated, leading to her death at the age of 2.5 months due to neonatal pneumonia.
Exploring Maternal Knowledge and Stimulation Practices in the Development of Children with Down Syndrome Susilowati, Endang; Meiranny, Arum; ‘Aisy, Ghina; Winarni, Tri; Utari, Agustini
Media Publikasi Promosi Kesehatan Indonesia (MPPKI) Vol. 8 No. 9: SEPTEMBER 2025 - Media Publikasi Promosi Kesehatan Indonesia (MPPKI)
Publisher : Fakultas Kesehatan Masyarakat, Universitas Muhammadiyah Palu

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.56338/mppki.v8i9.7686

Abstract

Introduction: Down syndrome is a common genetic disorder in children, with rising cases in Central Java—from 210 in 2020 to 650 in 2024—a 63% increase in three years. Children with Down syndrome face developmental challenges across all domains including motor, sensory, cognitive, language, and social aspects. Parental involvement, especially mothers, plays a crucial role in optimizing developmental outcomes. However, observations at POTADS Semarang indicate limited maternal knowledge and inadequate stimulation practices. This study aims to explore maternal knowledge and behaviors related to developmental stimulation in children with Down syndrome at POTADS Semarang.. Methods: This analytic survey employed a cross-sectional approach conducted in August 2024 with 75 mothers meeting the inclusion criteria. Data were collected using a structured and closed questionnaire. Ethical approval was obtained from the Research Bioethics Committee of Sultan Agung Islamic University, and informed consent was obtained from all participants. Results: The study found a significant correlation between maternal knowledge and stimulation behavior. Statistical analysis showed a 2-tailed significance value of 0.003 (<0.05). Most mothers (44%) had moderate knowledge of child development stimulation, and the majority (53.3%) demonstrated negative behaviors in providing age-appropriate developmental stimulation. Conclusion: Among the 75 respondents, 40 (53.3%) were over 35 years old, 52 (69.3%) were unemployed, and 58 (77.3%) had completed secondary education. Spearman Rank test analysis yielded a p-value of 0.003 (<0.05), indicating a significant relationship between maternal knowledge and behaviors regarding developmental stimulation. Mothers with moderate and low levels of knowledge were more likely to exhibit negative stimulation behaviors.
Effect of Probiotic Supplementation on Sprague Dawley Rat Liver Histopathology Fed by High Fat High Fructose Diet Kusumawati, Ninung Rose Diana; Panunggal, Damianus Galih; Mexitalia, Maria; Sidhartani, Magdalena; Pratiwi, Juwita; Utari, Agustini
Journal of Biomedicine and Translational Research Vol 7, No 2 (2021): August 2021
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v7i2.11918

Abstract

Background: Non-alcoholic fatty liver disease (NAFLD) is an important cause of liver disease burden worldwide. The gastrointestinal microbiota has a close relationship with the liver as the liver is most exposed to intestinal bacteria. Microbial manipulation is a potential and effective therapy as an alternative in the management of NAFLD/NASH. It has been found that probiotics prevent NAFLD/NASH. However, the study about the protective effect of probiotics on NAFLD/NASH is still limited. Objective: The objective of this study is to evaluate the effect of probiotics on liver histopathology Sprague Dawley rats which given high-fat high fructose (HFHFr) dietMethods: This study is a murine-model post-test-only control study group design. The samples were 21 Sprague Dawley male rats in 7 – 8 weeks of age and were divided into three groups. The Control Group (C) was provided with a standard chow diet for eight weeks. The Non-Probiotic (NP) group was given a High-Fat High Fructose (HFHFr) diet for eight weeks. The Probiotic group (P) was given a HFHFr diet for eight weeks, and a combination of HFHFr and probiotic supplementation consisted of Lactobacillus acidophilus, Bifidobacterium longum, and Streptococcus thermophilus for the next eight weeks. Histopathological samples were obtained from liver biopsy to assess steatosis, NAFLD activity score (NAS), and fibrosis stages. Wilcoxon test was done to analyze body weight before and after treatment. We analyzed the difference in histopathological results using the Mann-Whitney test.Results: We found a significant difference in NAFL and NAS Score between NP and P group. The P group was shown to have lower trends for NAFLD and NASH than the NP group, but not for fibrosis. There is no significant difference between pre and post-test body weight. Conclusion: Probiotics supplementation has a protective effect on liver histopathology against disturbances caused by the HFHFr diet.
Co-Authors A, Mahayu Dewi Aman B Pulungan Anindita Soetadji Anindita Soetadji Annastasia Ediati Asikin, Hang Gunawan Asri Purwanti Attika A. Andarie Bob Kevin Pardede Diadra Annisa Donna Hermawati Endang Susilowati Fadia Raihani Aprilia Herenda Fanti Saktini Ferdy Kurniawan Cayami Frida Soesanti Gatot Irawan Sarosa, Gatot Irawan Hertanto W Subagjo I Wayan Bikin Ika Rara Rosita Indriyati, Rita Jessica Juan Pramudita Lestari, Esa Loyallita Madarina Julia Magdalena Sidhartani, Magdalena Mahayu Dewi Ariani Maria Mexitalia Maria Mexitalia meiranny, arum Meita Hendrianingtyas Nani Maharani Nida Hanifah Niken Pritayati Ninung Rose Diana Kusumawati Nydia Rena Benita Sihombing Panunggal, Damianus Galih Pratiwi, Juwita Rina Pratiwi Safira Azzahra Selvia Eva Sabatini Sihombing, Nydia Rena Benita Sultana MH Faradz Sultana MH Faradz Tanjung Ayu Sumekar Tithasiri Audi Audi Rahardjo Tri Indah Winarni Tri Winarni Vynda Ulvyana Widodo Sarjana A.S ‘Aisy, Ghina