scholarly journals Avaliação das Variantes Genéticas dos Genes AMELX e ENAM na Cárie Dentária em Adolescentes

2021 ◽  
Vol 24 (5-esp.) ◽  
pp. 650-654
Author(s):  
Gabriela Paschoalini Romagni ◽  
Paula Marino Costa ◽  
Sandra Mara Maciel ◽  
Maria Paula Jacobucci ◽  
Regina Célia Poli-Frederico

A doença cárie é considerada, atualmente, como biofilme sacarose dependente, entretanto, estudos recentes apontam que fatores genéticos também podem influenciar seu desenvolvimento. Variantes nos gene amelogenina (AMELX) e enamelina (ENAM), responsáveis pela formação do esmalte, têm sido propostas como potencialmente envolvidos na doença. O objetivo deste estudo foi avaliar se a ocorrência de cárie dentária em adolescentes está relacionado às variantes nos genes AMELX e ENAM. Para a avaliação da prevalência de cárie foi utilizado o índice de dentes cariados, perdidos e obturados (CPO-D), segundo critérios da Organização Mundial de Saúde. As amostras de DNA foram extraídas das células da mucosa oral. Para a análise dos polimorfismos de nucleotídeo único (SNPs) dos genes AMELX (rs17878486) e ENAM (rs7671281) foi utilizada  a técnica de amplificação de fragmentos de DNA pela reação em cadeia da polimerase foi realizada (PCR) em tempo real pelo sistema TaqMan (Applied Biosystems, Foster City, EUA). Para a análise estatística, foi utilizado o teste exato de Fisher e qui-quadrado com nível de significância de 5%. Apenas os fatores socioeconômicos influenciaram a experiência de cárie. Concluiu-se que o componente genético, na população deste estudo, não influenciou o desenvolvimento da cárie.   Palavras-chave: Polimorfismo genético. Adolescentes. Esmalte.   Abstract Caries disease is currently considered a sucrose-dependent biofilm, however recent studies indicate that a genetic component can also influence its development. Variants in the amelogenin (AMELX) and enamelin (ENAM) genes, responsible for the enamel formation, have been proposed as potentially involved in the disease. The purpose of this study was to evaluate whether the occurrence of dental caries in adolescents is related to variants in the AMELX and ENAM genes. To assess the caries prevalence, the index of decayed, missing and filled teeth (DMFT) were used, according to World Health Organization criteria. DNA samples were extracted from oral mucosa cells. For the analysis of single nucleotide polymorphisms (SNPs) of the AMELX (rs17878486) and ENAM (rs7671281) genes, the amplifying DNA fragments technique  by the polymerase chain reaction was performed (PCR) in real time by the TaqMan system (Applied Biosystems, Foster City, USA). For the statistical analysis, Fisher's exact test and chi-square were used with a 5% significance level. Only socioeconomic factors influenced the caries experience. It was concluded that the genetic component in the population of this study, did not influence the development of caries.   Keywords: Genetic polymorphism. Adolescents. Enamel.

Author(s):  
Afiatun Rahmah ◽  
Rizki Amalia ◽  
Nelly Mariati

Based on IDHS Survey in 2012, the average Maternal Mortality Rate (MMR) was recorded at 359/100,000 live births. The average mortality rate was much higher compared to the results of IDHS survey in 2007 which was reached 228/100,000 live births. World health organization (WHO) in 2000s introduced Intranatal Care to prevent complications in childbirth. Intranatal care then was introduced to the student through university subject, in which 40% was theory and 60% was laboratory clinic practicum. This research aimed to determine the correlation between laboratory skills frequency and the result of intranatal care practicum of midwifery program students of health faculty in Universitas Muhammadiyah Banjarmasin. Methods: This research was quantitative study using descriptive analytic method with cross sectional approach. Sampling technique used was total sampling. The data were collected using secondary data which was presented in the form of data, tables, diagrams, or research topics by using Chi Square test with 95% significance level of 5,991. 32 (37,2%) respondents with <5 times of lab skill frequency showed <75 test scores, while 51 out of 54 (59,3%) respondents who had ≥5 lab skill frequency had ≥ 75 exam scores. Statistical analysis using Chi Square showed the value of p=0,000, which means that there was a correlation between lab skill frequency and the results of the practical test. Conclusion: It can be concluded that improving learning activities in the laboratory will improve students' practical abilities


2021 ◽  
Vol 18 (2(Suppl.)) ◽  
pp. 1086
Author(s):  
Haider Turky Mousa Al-Mousawi ◽  
Qabas Neamah AL-Hajjar

Human cytomegalovirus (CMV) is the globally highly prevalent herpesvirus worldwide. CMV infects populations of all ages according to the Center for Disease Control and Prevention (CDC) and World Health Organization (WHO). CMV infections remain the most common viral complication potentially multiple in humans and are a major cause of congenital normality in women, which is why they are critical for diagnosis in several times when it happens during pregnancy. Pregnant women with CMV infection can be in charge of abortion or congenital expandaedby. This study involves the collection a total of (90) samples taken from each aborted and pregnant woman (70 with abortion cases and 20 of pregnant without history of abortion as control subjects) referring to Babylon teaching hospital for Maternity and Children, covering a period from (October 2018 to March 2019) to investigate the occurrence of Cytomegalovirus (CMV) in Babylon city. Patients and controls were evaluated for IgG, IgM antibodies and anti-HCMV IgG, IgM for (90) subjects were controlled in this study using the Enzyme Immunoassay Test Kit and read by enzyme - linked immunosorbent analyze (ELISA). In addition the  polymerase  chain reaction (PCR)  DNA  detection  for  CMV  are  based  on  the  amplification  of  pathogen  genomes  in  a particular  region  using different primers. The Chi-square test was used to analyze the data. The results show among 90 samples, women were evaluated for CMV infection, the seroprevalence titer was significantly higher at P <0.05 in seropositive cases ranging from 62(89%) toward positive CMV IgG, while the 65 (93%) of patients were positive CMV IgM from (70) women with abortions. By contrast, the results obtained from the controls were 9 (45%) subjects seropositive for IgG and all of them were seronegative with IgM. The anti – HCMV IgG finding showed high positivity that represents the furthermost of CMV infections among females through ages ranging between 20-29 years. Furthermore, the outcomes of molecular detection showed that a small number of samples 13 (19%) were HCMV DNA detectable in aborted women less than in pregnant women 3 (15%).       


PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e8436
Author(s):  
Tianyu Cheng ◽  
Jingjing Wang ◽  
Shuyu Xiong ◽  
Bo Zhang ◽  
Qiangqiang Li ◽  
...  

Purpose To investigate the association between insulin-like growth factor 1 (IGF1) single-nucleotide polymorphisms (SNPs) and myopia in a young Chinese population. Methods A total of 654 Chinese children aged 6–13 years from one primary school participated in our study and underwent a series of comprehensive ocular examinations, including cycloplegic refraction and measurements of axial length. Myopia was defined as a spherical equivalence (SE) ≤ −0.5 D in the worse eye. In total, six tagging SNPs of IGF1 were genotyped using the PCR-LDR (Polymerase Chain Reaction-Ligation Detection Reaction) method. We tested four different genetic modes (the allele, dominant, recessive, and additive models) of these SNPs and used multivariate logistic regression to calculate the effect of SNPs on myopia. In addition, we conducted a haplotype analysis with a variable-sized slide-window strategy. Results Overall, 281 myopic children and 373 non-myopic controls were included in the analysis. The SNP rs2162679 showed a statistical difference between the two groups in both the allele (p = 0.0474) and additive (p = 0.0497) models. After adjusting for age and gender, children with the genotype AA in the SNP rs2162679 had a higher risk of myopia than those with the genotype GG (OR = 2.219, 95% CI [1.218–4.039], p = 0.009). All haplotypes that varied significantly between the two groups contained the SNP rs2162679, and the four-SNP window rs5742653–rs2162679 had the lowest p value (Chi square = 5.768, p = 0.0163). However, after permutation tests, none of the associations remained statistically significant. Conclusion The SNP rs2162679 in IGF1 was associated with myopia in a young Chinese population. The G allele in the SNP rs2162679 may protect against myopia.


2018 ◽  
Vol 4 (1) ◽  
pp. 19
Author(s):  
Lisa Septiana

Background: Female infertility is one of the most important issues for public health. According to the World Health Organization, the incidence of infertile cases are increasing each year. Likewise, according to the Central Bureau of Statistics, infertile incidence in Indonesia has been increasing. Pupuk Kaltim Siaga Ramania Hospital is one of the hospitals in East Kalimantan Province with improving number for visiting infertile patients. This study aimed to analyze the factors related to the incidence of infertility. Subjects and Method: The design of this study is cross-sectional. The study was conducted at Poly obstetric Pupuk Kaltim Siaga Ramania Hospital from January to March, 2018. A sample of 180 fertile women with sampling through purposive sampling technique. The dependent variable was infertility. The independent variables were age, obesity, long married, and employment status on the incidence of infertility. The data were collected by medical records and questionnaires. Data were analyzed with Chi Square statistical analysis with significance level of 0.05.Results: Female infertility was affected by age (p=0.000, X2 count= 18,037), obesity (OR=3.360; CI 95%=1.773-6.367; p<0.000; X2 count = 13.155), long married (OR=4.972; CI 95%=2.525-9.790; p<0.000; X2 count = 21.670), dan employment status (OR=2.764; CI 95%=1.478-5.171; p<0.002; X2 count = 9.401). Conclusion: It can be concluded that there is correlation of age, obesity, long married, and employment status on the incidence of infertility. It is necessary for improving the knowledge regarding risk factors and for couples who had obesity to applied a pattern of a healthy diet by keeping weight ideally. Keywords                    : age, obesity, long married, employment and infertilityBibliography   :  26 (2007-2017)


Author(s):  
Yuni Kurniati Yuni Kurniati

ABSTRACT [World Health Organization ( WHO ) , diarrhea is the number one cause of infant mortality worldwid. In Indonesia , toddler diarrhea is the number two killer after ARI ( Acute Respiratory Infection ) . Research purposes to determine the factors associated with the incidence of diarrhea in infants in the Free Health Center Palembang in 2012 . Sampling is done by sampling rondom method , data analysis, univariate and  =abivariate statistical chi - square test with a significance level of  0.05 . The results from 378 respondents who have children who suffer from diarrhea 213 ( 56.3 % ) . Age of toddlers at high risk of diarrhea, 121 ( 63.4 % ) . Higher education totaled 121 ( 47.3 % ) . High economic status who had diarrhea 56 ( 46.3 % ) . test results obtained chi - square with toddler age p value = 0.008 p value = maternal education and economic status of families 0,000 p value  = 0.05 .a  = 0.009 smaller  So that the hypothesis stating no statistically significant association between toddler age , education and economic status with the incidence of diarrhea in infants statistically proven. Expected for health workers to improve education about prevention of diarrhea in an effort to reduce the incidence of diarrhea in Indonesia.                                      ABSTRAK World Healt Organization (WHO), diare adalah penyebab nomor satu kematian balita di seluruh dunia. Di Indonesia, diare adalah pembunuh balita nomor dua setelah ISPA (Infeksi Saluran Pernapasan Akut). Tujuan penelitian untuk mengetahui faktor-faktor yang berhubungan dengan kejadian diare pada balita di Puskesmas Merdeka Palembang tahun 2012. Pengambilan sampel ini dilakukan dengan metode rondom sampling, analisa data dilakukan secara univariat dan bivariat dengan uji statistik chi-square  dengan tingkat kemaknaan a = 0,05. Hasil penelitian dari 378 responden yg memiliki balita yg terkena diare 213 (56,3%),. Umur balita yang beresiko tinggi  terkena diare 121 (63,4%). Pendidikan tinggi berjumlah 121 (47,3%). Status ekonomi tinggi yang terkena diare 56 (46,3%). Hasil uji ­chi-square dengan didapatkan umur balita p value = 0,008 pendidikan ibu p value = 0,000 dan status ekonomi keluarga p value = 0,009 lebih kecil   a = 0,05. Sehingga hipotesis menyatakan ada hubungan bermakna antara umur balita, pendidikan dan status ekonomi dengan kejadian diare pada balita terbukti secara statistik. Diharapkan bagi tenaga kesehatan untuk meningkatkan penyuluhan tentang pencegahan diare dalam upaya menurunkan angka kejadian diare di Indonesia.    


2020 ◽  
Vol 4 (1) ◽  
pp. 51-59
Author(s):  
Ade Devriany ◽  
Endah Mayang Sari

Air Susu Ibu (ASI) merupakan makanan alamiah yang ideal untuk bayi, terutama pada bulan-bulan pertama. Berdasarkan data dari United Nations Children's Fund (UNICEF) dan WHO (World Health Organization), pemberian ASI eksklusif di dunia masih tergolong rendah. Tujuan penelitian yait untuk mengetahui pengaruh pemberian ASI eksklusif terhadap grafik pertumbuhan pada KMS pada bayi. Penelitian ini adalah penelitian observasional dengan desain cross sectional study. Subyek penelitian ini adalah seluruh bayi usia 6 – 11 bulan di wilayah kerja Puskesmas Girimaya Pangkalpinang sebanyak 172 orang. Sampel minimal pada penelitian ini adalah 105 bayi yang dipilih dengan Stratified Random Sampling. Pengumpulan data dalam penelitian ini menggunakan KMS dalam menilai pertumbuhan bayi dan kuesioner untuk menilai pemberian ASI eksklusif. Analisa data dilakukan menggunakan uji Chi-Square dengan fisher exact test. Hasil penelitian menunjukkan bahwa lebih banyak bayi yang tidak diberikan ASI eksklusif yaitu sebesar 59% dan bayi yang tumbuh normal sebesar 78,1%. Hasil analisis bivariat menyatakan ada hubungan pemberian ASI eksklusif  terhadap pertumbuhan bayi usia 6-12 bulan di wilayah kerja Puskesmas Girimaya


2004 ◽  
Vol 48 (7) ◽  
pp. 2581-2587 ◽  
Author(s):  
Sara Brega ◽  
Frédérique de Monbrison ◽  
Carlo Severini ◽  
Rachanee Udomsangpetch ◽  
Inge Sutanto ◽  
...  

ABSTRACT Mutations in the dhfr gene of Plasmodium vivax (pvdhfr) are associated with resistance to the antifolate antimalarial drugs. Polymorphisms in the pvdhfr gene were assessed by hybridization probe technology on the LightCycler instrument with 134 P. vivax-infected blood samples from Turkey (n = 24), Azerbaijan (n = 39), Thailand (n = 16), Indonesia (n = 53), and travelers (n = 19). Double mutations (S58R and S117N) or quadruple mutations (F57L/I, S58R, T61M, and S117N) in the pvdhfr genes were found in all Thai samples (100%). pvdhfr mutant-type alleles were significantly more common in samples from travelers (42%) than in those from patients from Indonesia (5%). Surprisingly, the pvdhfr single-mutation allele (S117N) was identified at a high frequency in parasites from Turkey and Azerbaijan (71 and 36%, respectively), where sulfadoxine-pyrimethamine is not recommended for the treatment of P. vivax malaria by the World Health Organization and the Malaria National Programs.


2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 5081-5081
Author(s):  
M. V. Silva ◽  
F. Calais da Silva ◽  
D. Ligeiro ◽  
H. Trindade

5081 Background: Gene polymorphisms in key immunoregulatory molecules may contribute to the heterogeneity in outcome between individuals with bladder superficial carcinome receiving the immunotherapeutic treatment with BCG. This study aims to verify and identify cytokine gene polymorphisms that could influence the immune response to BCG and antitumoural action in those patients. Methods: We studied 90 patients, after turb and BCG intravesical, there where 72 responders (80 %), 18 non-responders (20%) all patients are multiple or recurrent except T1 G3 or Cis, the median follow up is 4,5 years The cytokines single nucleotide polymorphisms (SNP’s) (IL-1a (-889T/C), IL-1β (-511C/T), IL-1β (3962T/C), IL-1R (970 C/T), IL-1Ra (11100 T/C), IL-4 (-590 C/T), IL4-Ra (+576 G/A), IL-6 (-174 G/C), IL-10 (-1082GA/-819CT/-592CA), IL-12p35 (-916C/T), TGF-β (Codon 10 C/T), TNF-a (488GA/-238GA/-308GA), TNF-β (252 G/A), IFN-γ (+874 T/A)) genotypes were assessed by PCR with Sequence Specific Primers (PCR-SSP). Genotypes and allele frequencies of responders and non-responders (with tumour recidive) to the treatment were compared and evaluated by the two-sided Fisher’s exact test or Chi square and odds ratios (OR) were calculated as an estimate of relative risk. Results: It was found a correlation of cytokine gene polymorphisms to outcome of patients for both the genotype and haplotype TNF-a 488G/-238G/-308G frequencies, which are significantly higher in patients with tumour recidive after BCG treatment (non-responders 72,2% vs responders 42% OR=3,6; 95%CI 1.15 to 11.17 p=0.033). From the other genes studied, we could depict a weak association of the IL-1R 970 T/T genotype, with a higher frequency in non-responder patients (27,8% vs 4.2% in responders, p<0.05) and with IL-10 -1082 A allele also more frequent in non-responders to BCG (75% vs 54,8%; p<0.05). Conclusions: These results suggest that host genetics of immune regulatory molecules may play a role in predicting the antitumoural response after BCG treatment of bladder cancer. Confirmation of these findings in other populations is required. No significant financial relationships to disclose.


2020 ◽  
Vol 9 (2) ◽  
pp. 219
Author(s):  
Nadya Ayudiawati Nurbasari ◽  
Sharon Gondodiputro ◽  
Lazuardhi Dwipa

The inability of families to care for their elderly causes them to place the elderly in the Panti Werdhas. The elderly who move to a Panti Werdha usually have difficulties to adapt the new surroundings that can affect their quality of life. The World Health Organization (WHO) developed instruments to measure quality of life, a multidimensional and cross-cultural approach,  namely WHO Quality of Life-BREF (WHOQOL-BREF) and WHO Quality of Life-OLD (WHOQOL-OLD). Both instruments have been translated into Indonesian language. The aim of the study was to analyze the differences in quality of life between the elderly who live in the Panti Werdhas and in the community. A cross-sectional analytic quantitative study was carried out  from October to November 2019 at 5 Panti Werdhas and 6 public health centers (Puskesmas) in Bandung City, West Java, Indonesia. The total number of respondents in the Panti Werdha and at the Puskesmas as many as 42 respondents. The selection of respondents in the Panti Werdhas used purposive sampling, whereas in the puskesmas used consecutive sampling. The Chi-square or Fisher's Exact test was used to analyze the respondent's characteristics and  the Mann-Whitney test was used to analyze differences in the quality of life.  This study discovered that respondents living in the Panti Werdhas were older, not married/divorced and less educated compared to respondents in the community. The quality of life of the elderly in Panti Werdhas was lower compared to the elderly in the community for all dimensions (p=≤0.05) except the dimensions of death and dying (p=0.741). It can be concluded that there are differences in the quality of life between the elderly who live in Panti Werdhas and in the community  except at the dimensions of death and dying.


2020 ◽  
Author(s):  
Pedro Berzosa ◽  
V González ◽  
L Taravillo ◽  
A Mayor ◽  
M Romay-Barja ◽  
...  

Abstract Background The World Health Organization (WHO) recommends rapid diagnostic tests (RDTs) as a good alternative malaria-diagnosis method in remote parts of sub-Saharan Africa. The majority of commercial RDTs currently available detect the Plasmodium falciparum protein histidine-rich protein 2 (PfHRP2). There have also been recent reports of pfhrp2 gene deletions being found in parasites collected from several African countries. The WHO has concluded that lacking the pfhrp2 gene must be monitored in Africa. The purpose of the study was to analyse why the samples that were positive by PCR were negative by RDTs and, therefore, to determine whether there have been deletions in the pfhrp2 and/or pfhrp3 genes. Methods Malaria NM-PCR was carried out on all the samples collected in the field. A group of 128 samples was positive by PCR but negative by RDT; these samples were classified as RDT false-negatives. PCR was carried out for exon2 of pfhrp2 and pfhrp3 genes to detect the presence or absence of these two genes. Frequencies with 95% confidence intervals (CIs) were used for prevalence estimates. Associations were assessed by the Chi-square test or Fisher´s exact test. The level of significance was set at p ≤0.05. Statistical analyses were performed using the software package SPSSv.15.0. Results After PCR, 81 samples were identified (4.7%, 95% CI: 3.8-5.8) which had deletion in both genes, pfhrp2 and pfhrp3 . Overall, however, 11 samples (0.6%, 95% CI: 0.36-1.14) had deletion only in pfhrp2 but not in pfhrp3 , and 15 (0.9%, 95% CI: 0.6-1.5) presented with deletion only in pfhrp3 but not in pfhrp2 . Considering the pfhrp2 gene separately, within the total of 1,724 samples, 92 (5.3%, 95% CI: 4.37-6.5) had evidence of deletion. Conclusion The present study provides the first evidence of deletion in the pfhrp2 and pfhrp3 genes in P. falciparum isolates from Equatorial Guinea. However, larger studies across different regions within the country and across different seasonal profiles are needed to determine the full extent of pfhrp2 and pfhrp3 deletion. It is strongly recommended to implement an active surveillance programme in order to detect any increases in pfhrp2 and pfhrp3 deletion frequencies.


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