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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 5 Documents

Search results for , issue "Vol 4, No 2 (2018): December 2018" : 5 Documents clear

Marfan Syndrome, A Review Gerard Pals
Journal of Biomedicine and Translational Research Vol 4, No 2 (2018): December 2018
Publisher : Faculty of Medicine, Diponegoro University

Marfan syndrome is named after the French pediatrician Antoine Bernard-Jean Marfan who described in 1896 a girl with arachnodactyly and long limbs1. The patient also had congenital contractures of the elbows and would not fulfill the current criteria for Marfan syndrome. She probably was suffering from a condition that we now call contractural arachnodactyly, caused by mutations in the FBN2 gene.The clinical features of Marfan syndrome affect many systems of the body. The most obvious are the skeletal features, long limbs, tall stature, long thin fingers (arachnodactyly or spider fingers). The skeletal features can be scored objectively as: arm span more than 1.05 x body length; wrist sign (thumb and index finger can encircle the wrist of the other hand with at least one digit overlap) and thumb sign (when making a fist around the thumb, one digit of the thumb sticks out). The main neurological symptom is dural ectasias. The most severe symptoms are cardiovascular: mitralis valve prolapse, aortic dilatation and thoracic aortic aneurysms and dissections, which may lead to sudden death5. However, I noticed in discussions with patients that they often consider the ocular symptoms, severe myopia and lens luxation, the worst for themselves, because the latter may lead to blindness.

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

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.

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

Malaria, hepatitis B and HIV /AIDS, and their co-infection among Patients Visiting Health Centres in Akure, Nigeria Afolabi, Olajide Joseph; Aremo, A; H, Oluwabunmi; Itansanmi, I; I, Anuoluwa
Journal of Biomedicine and Translational Research Vol 4, No 2 (2018): December 2018
Publisher : Faculty of Medicine, Universitas Diponegoro

Co-infection is the simultaneous infection of host by multiple pathogenic species, which may co-exist together or not. In this study, the co-infection of malaria, HIV/AIDS and hepatitis B was investigated, using four different locations in Akure, Ondo State. Blood samples were aseptically collected from the left thumbs of 500 respondents using sterile lancets. Thin and thick smear of the blood samples were observed for malaria parasites using X100 magnification of the light microscope. Hepatitis B and HIV/AIDS were tested using diagnostic test kits. The results show that highest prevalence of malaria was observed in Oba-Ile (82.09%) among age group 31-40 years (92.72%). The lowest prevalence was found in Ala-Ajagbusi (73.17%) among age group 21-30 years (70.03%). Highest prevalence of hepatitis (7.06%) was observed in Orita-Obele while the lowest prevalence was observed in Ala- Ajagbusi (4.88%). HIV/AIDS infection was found Orita-Obele (1.76%, n=3) and Ala-Ajagbusi (2.44%, n=2). The results further show that all the individuals that tested positive to hepatitis B virus and HIV also tested positive to malaria. Also, 3 of the 5 individuals infected with HIV/AIDS tested positive to hepatitis B virus. Similarly, malaria, hepatitis B virus and HIV cohabit in 2 individuals; 1 in age group 21-30 years and 1 in age group 31-40 years. Coinfection of malaria with hepatitis and HIV/AIDS suggests that malaria is an opportunistic infection among the hepatitis and AIDS patients. This calls for prompt malaria treatment among the immunocompromised patients. More so, there should be adequate and consistent public health advocacy programs, to enlighten the populace about malaria, hepatitis B and HIV/AIDS in order to completely mitigate the disease spread in the area.

The Effects of Zinc Supplementation on Immune Response of Obese Children With Family History of Atopy W Wistiani; Dewi Ratih; M Mulyono; Saekhol Bakri
Journal of Biomedicine and Translational Research Vol 4, No 2 (2018): December 2018
Publisher : Faculty of Medicine, Diponegoro University

Introduction: Obesity is associated with low-grade chronic inflammation and disbalance between cytokine production of T helper1 and T helper2 cells. Zinc plays role in balancing immune response, has anti-oxidant and anti-inflammation activities; its deficiency also common in obesity. The role of zinc supplementation in children with obesity with risk of atopy needs to be elucidated.Materials and Method: We performed randomized controlled trial double-blind to investigate the effect of daily 15 mg zinc supplementation for 6 weeks in children aged 13 to 14 years old with obese who has family history of atopy. Subjects were divided into group of zinc supplementation and placebo, recruited from junior high schools from Semarang municipality, performed during periods from January to December 2013. Plasma zinc concentration, leptin, immunoglobulin-E (Ig-E), interferon-γ (IFN-γ), interleukin-4 (IL-4) were measured, also body weight, height and ISAAC questionnaire to recruit subjects with family history of atopy.Result: There were 36 subjects. The concentration of zinc serum, Ig-E, IFN-γ, and IL-4 of two groups before supplementation were not significantly different (p>0.05). Zinc supplementation increase the mean level of zinc concentration on treatment group compare to placebo group (27.74+11.80 vs 3.47+2.55, p=0.000). The concentration of Ig-E, IFN-γ and IL-4 serum were decreased at treatment group (15.5+20.46 vs 20.02+38.02, p=0.613), (1.82+3.59 vs 0.911+3.51, p=0.174), and (4.76+6.49 vs 2.44+4.41, p=0.085) respectively. Conclusion: Zinc supplementation increased the level of zinc serum concentration of obese children and decreased the risk of atopy.

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