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Journal of Biomedicine and Translational Research

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Published by Universitas Diponegoro

ISSN : - EISSN : 25032178 DOI : -

Core Subject : Health, Science,

Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

Journal of Biomedicine and Translational Research (JBTR) is an open access, international peer-reviewed journal that considers articles on: clinical medicine, molecular medicine, tropical medicine, infectious diseases, cardiovascular medicine, molecular biology, genetics, immunology, microbiology, biochemistry, and pharmacotherapy with particular interest on the link between clinical and basic research called translational research.

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Articles 173 Documents

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Phenylalanine and Tryptophan Intake of Hyperactive Children with Autism Puspito Arum; Dahlia Indah Amareta; Faridlotul Zannah
Journal of Biomedicine and Translational Research Vol 3, No 2 (2017): December 2017
Publisher : Faculty of Medicine, Diponegoro University

Background: Hyperactive is behavior which demonstrates the attitude of more energy than normal behavior. Level of neurotransmitter dopamine and serotonin in the body may be the factor of this disorder behavior. Level of phenylalanine and serotonin were found high in hyperactive children with autism. Level phenylalanine in the brain shows that it is not changed into tyrosine so dopamine can not be form. Serotonin derived from an amino acid tryptophan.Objective: To understand the association between phenylalanine and tryptophan intake to hyperactivity of children with autism.Methods: A survey analytic research with cross sectional approach involving 20 subjects. Phenylalanine and tryptophan intake data was collected by Semi Quantitative-Food Frequency Questionnaire (SQ-FFQ), and hyperactivity disorder of children with autism was measured based on DSM-IV guidelines. Results: Eight (40%) children had low hyperactivity, 9 (45%) children had moderate hyperactivity, 2 (10%) children had severe hyperactivity, and 1 (5%) child had very severe hyperactivity. Mean phenylalanine intake was 4899.74mg (±1543.42) with maximum and minimum intake respectively 7735.42mg and 1843.88mg. Tryptophan intake was 1153.91mg (±384.99) with maximum and minimum intake respectively 1953.89mg and 367.69mg. There was significant association between phenylalanine intake (p=0,034; r=0,477) and tryptophan intake and hyperactivity (p=0,026; r=0,492).Conclusion: There is an association between intakes of amino acid phenylalanine and amino acid tryptophan with hyperactivity of autistic children

Macrophage Activity Test of Pulmonary Tuberculosis Patients with Diabetes Mellitus (TB-DM) Arlita Leniseptaria Antari; Indah Saraswati; David Pakaya; Aryoko Widodo
Journal of Biomedicine and Translational Research Vol 2, No 2 (2016): December 2016
Publisher : Faculty of Medicine, Diponegoro University

Background: Control of pulmonary TB is getting more and more complicated as the number of patients with diabetes mellitus (DM) is increasing. The increasing prevalence of DM is followed by the increasing prevalence of pulmonary TB. Diabetes Mellitus patients have 4,7 times higher risk to develop pulmonary TB compared to patients without DM, since DM can increase the frequency and severity of an infection, including pulmonary TB.Aim: To analyze macrophage activity (phagocytosis, intracellular killing, and TNF-α synthesis) of TB-DM patients.Method: The research is an experimental study using a PBMC cultured sample from TB-DM patient's which undergo observation of macrophage activity (phagocytic, intracellular killing and TNF-α synthesis). The data were taken from microscopic observation of TB-DM patients, colony growth of viable Mycobacterium tuberculosis and the TNF-α level secreted by macrophages.Result: Microscopic observation showed that there are less amount of phagocytosed M. tuberculosis (in macrophage/intracellular level) and there is a little amount of formed vacuoles and giant cells. Furthermore, macrophages in TB-DM patients secrete low level of TNF- α, and there are more viable M. tuberculosis from this macrophage.Conclusions: Macrophages of TB-DM patients are less activated, with reduced phagocytic activity (due to the intrinsic defect of PMN) and reduced antigen presenting activity of phagocytes toward M. tuberculosis. Therefore, there is a need for a further study focused on macrophage activity enhancement on TB-DM patients against M. tuberculosis infection in DM patients.Keywords: macrophage, TB-DM, phagocytosis, intracellular killing, TNF- α.

Genetic Background of β Thalassemia Modifier: Recent Update Lantip Rujito; Teguh Haryo Sasongko
Journal of Biomedicine and Translational Research Vol 4, No 1 (2018): July 2018
Publisher : Faculty of Medicine, Diponegoro University

Thalassemia has become major health problem among developing countries. Genetic background which contain enormous mutations and variations have lead in clinical problem differences.The genetic basis of thalassemia, beta specifically, is mutations of the gene encoding the β chain of the hemoglobin (Beta-Globin, HBB). However, today it is known that abnormalities in this gene do not necessarily determine the clinical appearance of β thalassemia patients.A set of genes has been found that can modify the primary β thalassemia disorder. Secondary modifier contains genes that have been associated with elevated levels of HbF and improvement ratio of α / β globin chain. The genes involved are HBA, HBG, BCL11A, HBS1L-MYB and other cofactor genes regulating erythropoiesis. Tertiary genetic modifier comes from other genes related to the disease severity including iron metabolism, redox activity, and clinical complications. The review aims to provide the latest updates regarding the known β Thalassemia modifier genes and some other genes involved in the changes of the clinical manifestations.

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.

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.

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.

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.

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.

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.

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.

Page 4 of 18 | Total Record : 173

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