Relationship between C677T Methylenetetrahydrofolate Reductase Gene Polymorphism and Homocysteine in Cerebral Palsy

Objective: To observe the relationship between methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and homocysteine levels in cerebral palsy (CP) children. Methods: This cross-sectional study was conducted in several hospitals, school for children with special needs, and rehabilitation centers in Bandung from March to November 2014, on children with CP aged 4–14 years who met the inclusion criteria. Genotyping was performed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and direct sequencing. Homocysteine serum level was measured using chemiluminescent microparticle immunoassay (CMIA) method. Statistical analysis was conducted using t test. Results: In this study, 150 CP children had MTHFR C677T gene polymorphism with a frequency of 18%, consisting of TT homozygotes (4%), CT heterozygotes (14%), and T allele (11%. The mean serum level of homocysteine in CP with C677T MTHFR gene polymorphism was 8.22 (±1.89) µmol/L, higher than those without polymorphism (p=0.046). Conclusions: A relationship between MTHFR C677T gene polymorphism and homocysteine level in children with cerebral palsy is found in this study. Keywords: Cerebral palsy, homocysteine, methylenetetrahydrofolate reductase polymorphism DOI: 10.15850/ijihs.v4n1.68

Risk factors of gastric premalignant lesion in gastritis patients

Gastric cancer is the second leading cause of cancer-related mortality and the fourth most common cancer globally. Gastric premalignant lesions are well known risk factors for the development of gastric cancer. The purpose of this study was to investigate the risk factors of gastric premalignant lesion. This cross-sectional study observed gastritis patients at Adam Malik General Hospital, Permata Bunda General Hospital, Universitas Sumatera Utara Hospital, all located in Medan, Indonesia. A total of 120 gastritis patients were included in this study. Patients were interviewed with a questionnaire to obtain demographic data, alcohol intake, smoking status, high salt diet and NSAID use. Diagnosis of Helicobacter pylori infection was made using positive results of the carbon-14 urea breath test (14C-UBT), rapid urease test, and/or immunohistochemistry. Endoscopy and biopsy were conducted to diagnose gastric premalignant lesion. Gastric premalignant lesion diagnosis was made when one or more of the following were present: Chronic atrophic gastritis, intestinal metaplasia, or dysplasia. Data were analysed using SPSS version 22. There were 35/120 (29.2%) of gastritis patients having gastric premalignant lesion. Multivariate analysis has shown that H. pylori infection, patients with family history of gastric cancer, alcohol consumption and Batak ethnic have increased risk to develop gastric premalignant lesion (p<0.05). All these results implied that risk factors of gastric premalignant lesion were H. pylori infection, family history of gastric cancer, alcohol intake and Batak ethnic

Association between VEGF-634G>C Gene Polymorphism with Gastric Premalignant Lesions and Serum VEGF Levels in Helicobacter pylori Gastritis Patients

AIM: To evaluate the association between VEGF-634G&gt;C gene polymorphism with premalignant gastric lesions as well as the level of VEGF.METHODS: This cross-sectional study included patients with H. pylori gastritis at Haji Adam Malik General Hospital, Permata Bunda General Hospital, and Universitas Sumatera Utara Hospital, Medan, Indonesia. Detection of H. pylori infection was made using positive results of 14C-UBT, rapid urease test, and/or immunohistochemistry. Gastric premalignant lesion diagnosis was made when one or more of the following were present: chronic atrophic gastritis, intestinal metaplasia, or dysplasia. Real-time polymerase chain reaction (RT-PCR) was used to examine VEGF-634G&gt;C gene polymorphism. Additionally, serum samples of patients with H. pylori gastritis were obtained to determine the level of circulating VEGF. Data were analysed using SPSS version 22.RESULTS: A total number of 87 patients with H. pylori gastritis were included in this study. Of all participants, 26 patients (29.9%) showed gastric premalignancy. There was a significant association between GG+GC genotype of VEGF-634G&gt;C and gastric premalignant lesions (P = 0.003; OR (CI 95%) = 6.07 (1.88-41.71)). VEGF-634 G&gt;C polymorphism also showed an association with VEGF serum levels (P = 0.005). Patients with the GG+GC genotype would be at risk of 3.16 times to have high VEGF levels compared to CC genotypes.CONCLUSION: VEGF-634G&gt;C polymorphism, in particular, GG+GC genotype was associated with an increased risk of gastric premalignant transformation as well as having high VEGF levels in patients with H.pylori gastritis

The effect of low birth weight on endothelial dysfunction in young adults: a retrospective cohort study

Aim. To investigate the effect of low birth weight (LBW) on endothelial function, and to determine the role of plasma adiponectin in endothelial dysfunction by conducting flow mediated brachial artery (FMBA) test or vasodilation response (VR) and by measuring plasma asymmetrical dimethylarginine (ADMA) in young adults born with LBW.Methods. In a retrospective cohort study, subjects were randomly selected from the Growth Study Cohort of Tanjungsari in the Sumedang district of West Java. They consisted of 67 LBW and 67 NBW (normalbirth weight) young adults.Results. The relative risk for LBW to have low brachialis artery vasodilation response was 2.94, 95% confidence interval (CI): 1.91–4.53, and to have low plasma adiponectin concentration 1.53, (95% CI: 1.07–2.18). Multivariate analysis via Hotelling’s trace showed a statistically significant difference (p &lt; 0.001) for all variables studied (FMBA, plasma ADMA, and plasma adiponectin concentrations) but simultaneous confidence interval measurements indicated that the value of FMBA and the concentration of plasmaadiponectin were significantly lower, respectively p &lt; 0.001, 95% CI: –4.409–(–2.114), and p = 0.015,95% CI: –1.083–(–0.082) in LBW compared to NBW subjects. The correlation between plasma adiponectin concentration and plasma ADMA concentration (r = –0.16, p = 0.176), and FMBA (r = 0.13, p = 0.281) in LBW subjects were not significant.Conclusions. There is an effect of LBW on endothelial function. Plasma adiponectin’s action in endothelial dysfunction in young adults with LBW has a potential role which is yet to be defined

Quantitative Measure to Differentiate Wicket Spike from Interictal Epileptiform Discharges

A number of benign EEG patterns are often misinterpreted as interictal epileptiform discharges (IEDs) because of their epileptiform appearances, one of them is wicket spike. Differentiating wicket spike from IEDs may help in preventing epilepsy misdiagnosis. The temporal location of IEDs and wicket spike were chosen from 143 EEG recordings. Amplitude, duration and angles were measured from the wave triangles and were used as the variables. In this study, linear discriminant analysis is used to create the formula to differentiate wicket spike from IEDs consisting spike and sharp waves. We obtained a formula with excellent accuracy. This study emphasizes the need for objective criteria to distinguish wicket spike from IEDs to avoid misreading of the EEG and misdiagnosis of epilepsy

Spinocerebellar Ataxia 3 (SCA3) Patient with Peripheral Neuropathy

Spinocerebellar ataxia (SCA) 3 is a neurodegenerative disease which involves cerebellum and extra cerebellum. Neuropathy in SCA3 manifests in various ways, including axonal and demyelination lesions in sensory and motor nerves. There has not been any study that describes the peripheral neuropathy characteristics of SCA3 patients in Indonesia at the time of this publication. This paper reports a case of a 43-year-old male with known spinocerebellar ataxia 3 presented with hereditary ataxia and mild numbness in both palms since two years before. No abnormalities were found during the sensory examination. The NCS showed severe axonal demyelinating sensorimotor peripheral neuropathy. In magnetic resonance imaging (MRI), an atrophy in the cerebellum with cerebral multiple lacunar infarction was identified. Electrophysiological results revealed profound axonal lesion in peripheral nerves. To conclude, peripheral neuropathy in SCA3 represents the dominance of axonal lesions in motor nerves

Natural resistance-associated macrophage protein 1 gene polymorphisms in thalassemia patients with tuberculosis infection

that needs regular blood transfusions leading to accumulation of iron in the cells. This iron overload level in macrophage might cause intracellular bacteria, particularly Mycobacterium tuberculosis (MTB) to multiply. Polymorphisms in natural resistance-associated macrophage protein 1 (NRAMP1), a metal transporter across the phagosome membrane, play important role in regulating iron, which is also needed by MTB. Increased iron in thalassemia patients may have an increased potential risk for TB. Objective To compare natural resistance-associated macrophage protein 1 (NRAMP1) gene polymorphisms (INT4, D543N, and 3’UTR) in thalassemia patients with and without tuberculosis (TB) infection. Methods A cross-sectional measurement of NRAMP1 genetic polymorphisms was performed in pediatric thalassemia patients with TB (n=40) and without TB (n=50). Iron status including serum iron, total iron-binding capacity (TIBC), and ferritin, was compared between the two groups. The NRAMP1 genetic polymorphisms were analysed using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Allelic and genotypic distributions of each polymorphism were assessed for possible associations with TB infection. Results Mean serum iron and TIBC in thalassemia patients with TB were higher compared to thalassemia patients without TB (mean serum: 166.26 vs. 134.92 μmol/L, respectively; P=0.026) and (mean TIBC: 236.78 vs. 195.84 μmol/L, respectively; P=0.029). In thalassemia patients with TB, we observed significantly higher frequency of the C allele in INT4 (10% vs. 2%, respectively; OR=5.44; 95%CI 1.1 to 26.4; P=0.02) and the TGTG deletion allele (78.8% vs. 51%, respectively; OR=3.56; 95%CI 1.83 to 6.9; P=0.0002) in 3’UTR polymorphisms than in thalassemia patients without TB. There were no significant  differences in distributions of the A allele between TB and non-TB groups (16.3% vs. 15%, respectively; P=0.84) or the GA genotype (32.5% vs. 30%, respectively; P=0.79) in D543N. Conclusion The NRAMP1 polymorphisms are known to be associated with major gene susceptibility to TB, and in our thalassemia patients this association is even more pronounced

Epidermal Growth Factor and Adenosine Triphosphate Induce Natrium Iodide Symporter Expression in Breast Cancer Cell Lines

AIM: This study aims to investigate the effect of ATP, EGF and combination of those two to the Natrium Iodide Symporter (NIS) expression in MCF7, SKBR3 and HaCaT cell lines. METHODS: MCF7, SKBR3 and HaCaT cell lines were treated with ATP, EGF and combination of those two for 6, 12 and 24 hours. The expression of NIS mRNA was measured through quantitative-reverse transcription-polymerase chain reaction (qRT-PCR). The NIS protein expression was confirmed by immunocytofluorescence. RESULTS: NIS mRNA was expressed in SKBR3 and HaCaT cell lines but not in MCF7. The levels of NIS mRNA expression, after treatment by epidermal growth factor (EGF), adenosine Tri-Phosphate (ATP) or the combination of both for 6 and 12 hours were not significantly different from those of untreated cells. However, the treatment by a combination of ATP and EGF for 24 hours increases the level of NIS mRNA expression by 1.6 fold higher than that of the untreated cells (1.6241 ± 0.3, p &lt; 0.05) and protein NIS expression increase significantly by the treatment than untreated cells (P &lt; 0.05). CONCLUSION: The level of NIS expression varies among the different subtypes of breast cancer cell lines. MCF7 cell line is representing the luminal A subtype of breast cancer does not express NIS. Only SKBR3 cell line express NIS and this subtype might be suitable to receive radioiodine therapy as those cells expressing NIS. A combination treatment of EGF and ATP increases the expression of NIS mRNA and protein at the membrane in SKBR3 cells

Why Regions with Archipelagic Characteristics in Indonesia Also Need Asymmetric Decentralization?

Indonesia has been practicing both symmetric and asymmetric decentralization for decades. This study believes that asymmetric decentralization should not only for those five provinces (Jakarta, Yogyakarta, Aceh, Papua and West Papua). If political considerations and the effectiveness and efficiency of government, asymmetric decentralization becomes a necessary choice for many other regions in Indonesia. This includes autonomous regions characterized by islands (archipelagic regions). Hence, this paper will discuss a number of reasons why archipelagic regions also need asymmetrical arrangements. How to make such arrangements functional? What potential challenges might be encountered? This study employs qualitative approach with theory-driven type. Operationally, this study is sustained by a series of Focus Group Discussion (FGD) and documentary method. Aiming at strengthening the capacity of the government for more effective governance and development process, the uniqueness and various specific problems faced by archipelagic regions become the main reasons for applying asymmetric decentralization. Proposing a separate policy provides an effective strategy for certainty and functional de jure and de facto asymmetry arrangements. Handling various existing problems which could weaken the capacity to carry out asymmetric decentralization policy would be the most appropriate strategy to make the policy facilitates its potential benefits

Biologi molekuler dasar dalam bidang kesehatan

xxii, 200 hal.; 23 cm