scholarly journals Higher G allele frequency of RET C2307t>G polymorphism in female patients with Hirschsprung disease in Yogyakarta, Indonesia

2008 ◽  
Vol 48 (2) ◽  
pp. 88 ◽  
Author(s):  
Ahmad Hamim Sadewa ◽  
Saryono Saryono ◽  
Rochadi Rochadi ◽  
Wiryatun Lestariana ◽  
Wayan T Artama

Background Hirschsprung disease (HSCR) is a heterogenouscongenital disorder and the current research show that the RETgene is a major locus involved in its pathogenesis. However,whether these genes take a part in sporadically Indonesian HSCRhave not been fully understood.Objective The aim of this study was to analyze the association ofRET gene c2307T>G polymorphism among HSCR patient inYogyakarta population.Methods Genomic DNA was extracted from bowel tissues of 34patients with sporadic HSCR which were removed by surgery ascase group and blood DNA from 46 healthy persons as controlgroup without history of genetic disorder. Exon 13 of RET genewas amplified by polymerase chain reaction (PCR) and wasanalyzed by restriction fragment length polymorphism (RFLP).Results Of 34 patients, 22 were males and 12 were females, givingmale to female ratio of 1.83:1. The c2307T>G polymorphism inRET exon 13 was not significantly difference between patientand control group (chi-square test P=0.17). However, there wasa significant difference in female patient compare with control(chi-square test P=0,04).Conclusion The RET gene c2307T>G polymorphism was foundamong HSCR patient in Yogyakarta population. This poly-morphism can be used as predictor for development of HSCRamong female individual.

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 4535-4535
Author(s):  
Esra Turan Erkek ◽  
Esra Nazligul ◽  
Meliha Nalcaci ◽  
Melih Aktan ◽  
Mustafa Nuri Yenerel

Abstract Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder. Chronic intravascular hemolytic anemia, bone marrow failure and thrombophilia are the main clinical findings. Thrombosis is one of the most important cause of morbidity and mortality of this disease. Multiple factors are held responsible for thrombotic tendency in these patients. Endothelial progenitor cells (EPCs) originate from primitive hematopoietic stem cells and are able to turn into endothelial cells. There are extremely small numbers of EPCs in the circulation under normal conditions. The level of EPCs is considered to be indicative of restoration capacity in case of vascular disease and potential damage. Lower EPC levels are also considered as a risk factor in cardiovascular diseases. In this study, our aim was to investigate circulating EPCs in PNH and their relationship with thrombosis. Seventeen patients with PNH, 18 patients with aplastic anemia and 10 healthy volunteers were included in the study. CD309, CD133 and CD34 antibodies were used in order to determine circulating EPCs by flow cytometry and cells which expressed all three antibodies were analyzed as EPC. Prepared samples were read using a prepared list mode software for endothelial progenitor cells on FACS Diva software in BD FACS Canto II device with 6 color lasers and a total of 1,000,000 cells per analysis were evaluated. EPC levels were compared between untreated PNH patients and who were on eculizumab therapy. Statistical analysis was performed using SPSS 22.0 software. The distribution of variables was evaluated by Kolmogorov-Smirnov test, the analysis of quantitative data was evaluated by ANOVA, Kruskal-Wallis, Mann-Whitney U tests and the analysis of the qualitative data was evaluated by chi-square test. Findings and Discussion: The thrombotic complications were observed in five PNH patients. All of these patients had a history of portal vein thrombosis. One of them also had a history of peripheral arterial disease and amputation related to this. There was not a significant difference in EPC levels between patients with and without a history of thrombosis (p>0,05). We also did not find any significant difference between levels of EPC's in PNH groups with or without eculizumab therapy (p˃0,05). There was no significant difference in levels of EPC between aplastic anemia and PNH groups (p ˃ 0,05). However, we found a significant positive correlation between the levels of EPC and LDH in multivariate analysis (p < 0,05). This finding suggests that hemolysis causes vascular endothelium and promotes new blood vessel formations. Increased EPCs in PNH might be an indirect indicator for vascular endothelium damage in PNH. Table. General Features and Rates of EPC of PNH, AA, Healthy Volunteers Groups Aplastic Anemia group PNH group Control group p Age mean±s.smedian (min-max) 40.0±14.7 37.5 (20.0-67.0) 41.9±13.9 43.0 (19.0-78.0) 29.3±3.5 29.5(24.0-34.0) 0.047 Sex Female n-% Male n-% 7 38,9% 11 61.1% 9 52.9% 8 47.1% 5 50% 5 50% 0.687 EPC(%) mean±s.s median (min-max) 0.2% 0.2% 0.1% (0.0-0.6%) 0.3%±0.3% 0.1% (0.0-0.9%) 0.1%±0.0% %0,0(%0,0-0,2) 0.393 All Events (x1000) mean±s.s median (min-max) 617±172* 565 (360-914) 588±255* 471 (250-1000) 878±143 950(655-1000) 0.003 CD309 and CD34 mean±s.s median (min-max) 0.003±0.002 0.002 (0.001-0.007) 0.005±0.004 0.000-0.011) 0.001±0.001 0.001 (0.000-0.002) 0.009 CD133 mean±s.s median (min-max) 45.8±36.3 58.3 (0.0-88.2) 45.8±39.6 60 (0.0-94.7) 42.0±19.4 46.4 (11.1-81.3) 0.867 ANOVA / Kruskal-Wallis / Mann-Whitney U test / Chi-square test *The difference with the control group, p <0.05 EPCs: Endothelial progenitor cells Disclosures Yenerel: Alexion: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau.


2008 ◽  
Vol 20 (1) ◽  
pp. 228
Author(s):  
A. Ideta ◽  
K. Hayama ◽  
M. Urakawa ◽  
Y. Aoyagi

Skewing the sex ratio of offspring towards males or females is very important for the livestock industry. Many factors, such as maternal stress, have been suggested to affect the sex ratio (Pratt NC et al. 1989 J. Reprod. Fertil. 87, 763–769). In a recent study (Ideta A et al. 2007 J. Reprod. Dev. doi:10.1262/JRD.19035), the proportion of female embryos recovered from superovulated heifers in which ovulation patterns were observed by repeated transrectal ultrasonography tended to be higher than the expected ratio of 50:50 (66.7%, 26/39). To investigate this phenomenon, we repeated the experiment using a larger number of Holstein heifers. The superovulatory treatment began in the midluteal phase of the estrous cycle (days 8 to 10) and consisted of eight decreasing doses of FSH i.m. (total of 28 Armour units, Antrin R-10, Kawasaki-Mitaka, Kanagawa, Japan) for 4 days with treatment twice daily. Doses of 5 mL and 3 mL of a PGF2α analogue (Veterinary Pronalgon F Injection containing 5 mg mL–1 Dinoprost, Pfizer Animal Health, Tokyo, Japan) were administered i.m. to the animals along with the seventh and eighth FSH treatment, respectively. The heifers were divided into two groups. One group, the rectal palpation (RP) group (n = 9), received transrectal ultrasonography with rectal palpation at 4-h intervals from 36 to 76 h after the first PGF2α treatment. The other group, the Control group (n = 8) received no treatment. The heifers were artificially inseminated at 56 and 72 h after the first PGF2α treatment using frozen–thawed semen from one bull. Seven-day embryos were recovered nonsurgically. Grade 1 to 3 embryos (IETS classification) were selected for this study. Male and female embryos were separated using the loop-mediated isothermal amplification procedure (Hirayama H et al. 2004 Theriogenology 62, 887–896). Data were analyzed using ANOVA and chi-square test. The mean number of recovered ova and embryos was 15.7 � 3.8 (RP) and 14.4 � 2.2 (Control). There was no significant difference in the percentages of unfertilized ova (RP; 14.9 %, 21/141 and Control; 11.3% 13/115, P > 0.05), grade 1 embryos (RP; 51.1%, 72/141 and Control; 54.8%, 63/115, P > 0.05) and grade 1 to 3 embryos (RP; 65.2%, 92/141 and Control; 69.6%, 80/115, P > 0.05) between the two groups. The proportion of female grade 1 embryos in the RP group (66.7%, 48/72) was significantly higher than the expected ratio of 50:50 (P < 0.01). The female ratio of grade 1 embryos in the Control group was 50.8% (32/63). Furthermore, the proportion of female grade 1 to 3 embryos in the RP groups (66.3%, 61/92) was significantly higher than the expected ratio of 50:50 (P < 0.005). The female ratio of grade 1 to 3 embryos in the Control group was 51.3% (41/80). Results indicate that frequent ultrasound examinations and rectal palpations following superovulatory treatment may skew the sex ratio of embryos towards females in Holstein heifers.


2010 ◽  
Vol 80 (1) ◽  
pp. 37-42 ◽  
Author(s):  
S. M. Banabilh ◽  
A. R. Samsudin ◽  
A. H. Suzina ◽  
Sidek Dinsuhaimi

Abstract Objective: To test the null hypothesis that there is no difference in facial profile shape, malocclusion class, or palatal morphology in Malay adults with and without obstructive sleep apnea (OSA). Materials and Methods: Subjects were 120 adult Malays aged 18 to 65 years (mean ± standard deviation [SD], 33.2 ± 13.31) divided into two groups of 60. Both groups underwent clinical examination and limited channel polysomnography (PSG). The mean OSA and control values were subjected to t-test and the chi square test. Results: Physical examination showed that 61.7% of the OSA patients were obese, and 41.7% of those obese patients had severe OSA. The mean body mass index (BMI) was significantly greater for the OSA group (33.2 kg/m2 ± 6.5) than for the control group (22.7 kg/m2 ± 3.5; P &lt; .001). The mean neck size and systolic blood pressure were greater for the OSA group (43.6 cm ± 6.02; 129.1 mm Hg ± 17.55) than for the control group (35.6 cm ± 3.52; 114.1 mm Hg ± 13.67; P &lt; .001). Clinical examination showed that the most frequent findings among OSA groups when compared with the control group were convex profiles (71.7%), Class II malocclusion (51.7%), and V palatal shape (53.3%), respectively; the chi square test revealed a significant difference in terms of facial profile and malocclusion class (P &lt; .05), but no significant difference in palatal shape was found. Conclusion: The null hypothesis is rejected. A convex facial profile and Class II malocclusion were significantly more common in the OSA group. The V palatal shape was a frequent finding in the OSA group.


2021 ◽  
Vol 45 (5) ◽  
pp. 312-316
Author(s):  
Mishra Neha Sanjeev ◽  
Harsimran Kaur ◽  
Sandeep Singh Mayall ◽  
Rishika ◽  
Ramakrishna Yeluri

Objective: To evaluate the effectiveness of placing a resorbable collagen barrier in impeding the extrusion of obturation material in primary molars undergoing resorption. Study design: All the 94 canals in 47 mandibular molars were allocated to 2 groups- Group ‘A’- 47 canals with collagen barrier (Test group) and Group ‘B’- 47 canals without collagen barrier (Control group) based on randomization protocol. Pulpectomy was performed and obturation of both test and control canals were radiographically assessed. Pearson’s chi – square test was applied to analyze the results. The significance level was predetermined at p &lt; 0.05. Results: Among the test group, 93.6% of the canals showed no extrusion while, 6.4% showed visible extrusion of the material outside the apex. In the control group, 83% showed no extrusion whereas 17% of the canals showed visible extrusion outside the apex. But no significant difference was noted (p&gt;0.05). Conclusion: The placement of resorbable collagen barrier in the apical third of the canal prevented the extrusion of obturating material beyond the apex in resorbing primary molars.


2021 ◽  
Vol 21 ◽  
pp. e226341
Author(s):  
Moses Okechukwu Azouru ◽  
Modupe Olufunmilayo Ashiwaju ◽  
Augustine Edomwonyi ◽  
Afolabi Oyapero ◽  
Bola Obisesan ◽  
...  

Treatment of dental caries in children still remains challenging due to lack of cooperation with conventional treatment modalities. Recently, the use of Silver Diamine Fluoride (SDF) has proved useful in addressing this challenge. Aim: This clinical trial aimed to evaluate the effectiveness of Silver Diamine Fluoride (SDF) in arresting caries in children in Lagos, Nigeria. Methods: This was a phase III balanced randomized controlled school based interventional study on 240 children. The study group was treated with SDF while GIC was used in the control group. Follow up visits in 2 weeks, 1 month, and 3 months were carried out to assess the treatment outcome. Inferential statistics with the use of Pearson Chi-square test and Independent Student t-test were used at 5% level of significance. Results: There was significant relationship between SDF and caries arrest in 2 weeks, 1 month and 3 months’ assessment period (p = 0.001). The control group showed continuous decline (71.7%, 54.3% and 50.9%) in restorative success from 2 weeks to 3 months respectively. The mean ± SD and Confidence Interval (CI) of arrested caries in the SDF group were 113± 1.24 and 113.1 – 113.5 respectively. In the control group the mean ± SD and CI of restorative success were 69.3±11.8 and 67.2 – 71.4. The effect size was 5.24. Conclusion: The result of the study showed that SDF was effective in arresting caries in children without any harm and there was statistically significant difference in the use of 38% SDF in arresting caries in children.


2019 ◽  
Vol 8 (2) ◽  
pp. 95-100
Author(s):  
Mehry Bozorgnejad ◽  
Mohammad Reza Zarei ◽  
Leila Mamashli ◽  
Fatemeh Mohaddes Ardebili

Background: Burning is one of the worst accidents that people may now experience in modern society. One of the most critical problems of burn patients is the anxiety caused by medical treatments such as burn dressing. The present study aimed to determine the effect of rhythmic breathing on the anxiety of dressing change in burn patients. Materials and Methods: This experimental clinical trial was done on 60 burn hospitalized patients in Ayatollah Mousavi educational-therapeutic hospital of Zanjan province in 2017. The sampling was performed continuously and the samples were randomly assigned to control and experimental groups (30 subjects in each group). The data collection tool included a demographic questionnaire and numerical anxiety scale. First, the demographic characteristics questionnaire was completed by the samples. Then, the rhythmic breathing was taught to the experimental group for 20 minutes until complete learning, and they were asked to perform the rhythmic breathing during dressing. Before and after dressing, anxiety was evaluated in the experimental and control groups for 3 consecutive days. After collecting data and entering them into SPSS 20, data were analyzed using descriptive statistics, chi-square test, independent and dependent t test, and Friedman test. Results: Based on the findings of the study, both groups were homogeneous in terms of age, gender, education, percentage and the degree of burn, and there was no statistically significant difference. The results of the Friedman test showed that the anxiety severity had a statistically significant difference in both control and experimental groups before and after the intervention (P<0.001). However, the severity of anxiety after the intervention further reduced in the experimental group compared to the control group, and this reduction was statistically significant in the experimental group (P<0.001). Conclusion: In general, rhythmic breathing is effective in reducing anxiety caused by a dressing change in burn patients. Thus, this method can be used to decrease the anxiety of dressing.


2021 ◽  
Vol 10 (4) ◽  
pp. 354-367
Author(s):  
Tahereh Baloochi Beydokhti ◽  

Objective: Hemodialysis is one of the most common treatment methods in kidney patients. To do this, repeated insertion of the needle into the vessel is necessary. Patients treated with hemodialysis are exposed to stress and pain caused by perforation of their arteriovenous fistula about 300 times a year. More than 1/5 of hemodialysis patients express this pain as unbearable. This study aims to evaluate the effect of acupressure at SP6 and ST36 acupoints on the pain caused by fistula needle placement in hemodialysis patients. Methods: This study is a double-blind randomized clinical trial conducted in 2016 on 90 hemodialysis patients with arteriovenous fistula in Mashhad, Iran. They were randomly divided into three groups of SP6, ST36, and control. Data were collected after obtaining a written informed consent by a demographic form and the Visual Analog Scale (VAS). Data analysis was performed in SPSS v.16 software by using Kolmogorov-Smirnov test, Kruskal-Wallis test, one-way ANOVA, paired t-test, and Chi-square test. Results: There was a statistically significant difference between VAS scores after the intervention in all three group (P<0.001). The Mean±SD VAS scores before the intervention in SP6, ST36, control groups were 54.47±18.93, 51.5±22.83, 46.6±17.73, respectively which changed to 45.63±20.53, 40.2±20.01, and 51.87±19.05 after the intervention, indicating that acupressure at SP6 and ST36 acupoints reduced pain in patients, while the pain increased in the control group. Conclusion: Acupressure at SP6 and ST36 acupoints is an effective method in relieving pain caused by the insertion of a needle into the arteriovenous fistula in hemodialysis patients.


2019 ◽  
Vol 25 (6) ◽  
pp. 460-463
Author(s):  
Gino Fellipe Santoro ◽  
Katlyn Duarte de Mello ◽  
Zair Cândido de Oliveira Netto ◽  
Gabrielle Pfutzenreuter ◽  
Julio Cesar Bassan ◽  
...  

ABSTRACT Introduction Physical performance depends on a variety of biological and mechanical properties. These different phenotypes are related through the complex interaction between the environment and the individual genetic profile. The hypothesis is that there is a hereditary component that interferes in physical fitness. ACE stands out among the genes that may influence this response. Objectives The objective of this study is to analyze the polymorphism of the ACE gene in American football athletes. Methods: At the end of the study, the sample was composed of 45 male athletes and 72 non-athletes. DNA was extracted from the jugal mucosa. ACE polymorphisms were genotyped through polymerase chain reaction and analyzed using the electrophoresis process. To compare the frequency of genotypes between athletes and the control group, we used the Chi-square test. The association between the frequencies of alleles was verified through the 2X2 contingency tables analyzed using the Chi-square test with Yates correction. The type of study was diagnostic - Investigation of a diagnostic test, level of evidence II. A p-value of ≤0.05 was considered statistically significant for all the analyses. Results The results showed a greater frequency of the D allele in American football athletes when compared with non-athletes, and a significant difference in the genotypic distribution of the athletes being composed of a higher number of the DD genotype as compared to the control group. Conclusion The study provides evidence of the allelic and genotypic influence of ACE polymorphism in amateur American football players in Brazil. Level of evidence II; Investigation of a diagnostic test.


2020 ◽  
Author(s):  
Donglie Zhu ◽  
Hang Fu ◽  
Zelong Yang ◽  
Mingzuo Jiang ◽  
Yanjie Ren ◽  
...  

Abstract Aims: The present study aimed to explore the correlation between cholecystectomy and cholangiocarcinoma, and to provide preliminary clinical basis for precise cholecystectomy in China.Methods: We conducted a retrospective analysis of 9744 patients with cholangiocarcinoma, colon cancer, pancreatic cancer, femoral fracture, and hepatic hemangioma diagnosed in Xijing hospital from August 2008 to August 2018. They were divided into three groups: case group (1749 cases of cholangiocarcinoma), positive control group (3137 cases of colon cancer and 1950 cases of pancreatic cancer), negative control group (1794 cases of femoral fracture and 1114 cases of hepatic hemangioma). We collected the general information (gender, age), past medical history, cholecystectomy history from the patients, and these data were analyzed by chi-square test and logistic regression analysis. Results: The cholecystectomy rate of the case group was significantly higher than that of the positive control group and the negative control group by chi-square test (p<0.025). The cholecystectomy rate and the history of cholecystolithiasis were analyzed by logistic multivariate regression analysis. The OR values of cholecystectomy rate were 1.553 (95%CI: 1.311-1.840) and 3.181 (95%CI: 2.561-3.951), respectively, and the difference was statistically significant (p<0.000). The OR values of the history of cholecystolithiasis were 2.460 (95%CI: 2.093-2.890) and 5.426 (95%CI: 4.325-6.809), respectively, and the difference was statistically significant (p<0.000). In case group, the difference between cholecystectomy and cholecystolithiasis was statistically significant (p<0.000) by chi-square test. Conclusions: In conclusion, cholecystectomy is one of the risk factors of cholangiocarcinoma and the patients who undergo cholecystectomy have a higher risk of cholangiocarcinoma than the control groups. Cholecystectomy should be conducted with caution and the precise surgical treatment of gallbladder diseases is advocated.


2007 ◽  
Vol 19 (1) ◽  
pp. 185
Author(s):  
Y. Takagi ◽  
M. Shimizu ◽  
M. Morimura ◽  
S. Yokomizo ◽  
K. Hara ◽  
...  

Embryos of various species are successfully vitrified and cryopreserved in liquid nitrogen (&lt;−150°C). Like the preservation of frozen somatic cells cooled by dry ice (−79°C), the cryopreservation of embryos at −79°C is useful for a reduction in the shipping costs. The purpose of this study was to evaluate the effect of the cryopreservation period at −79°C on the in vitro embryo viability of vitrified mouse morulae after thawing. Morula-stage mouse embryos were collected from superovulated ICR donors 70 h after hCG injection. The embryos were exposed first to 5% DMSO + 5% ethylene glycol (EG) in Dulbecco's PBS + 20% FCS (mPBS) for 2 min, and then equilibrated for 20–30 s in a vitrification solution composed of 10% DMSO + 10% EG + 0.6 M sucrose in mPBS. The embryos were loaded onto cryoloops (Lane et al. 1999 Nat. Biotech. 17, 1234–1236) and plunged directly into liquid nitrogen. The cryoloops were placed in 1.2-mL cryotubes and stored in a −79°C freezer for 1–7 days. The embryos were warmed by passing through 4 dilution media and rinsed with mWM culture medium. They were then cultured at 37°C in 5% CO2 for 44 h. Non-cryopreserved embryos and embryos cryopreserved in liquid nitrogen served as controls. Data were analyzed by the chi-square test and the Student's t-test. Results are shown in Table 1. There was no significant difference (P &gt; 0.01) in the developmental abilities to the blastocyst stage of the vitrified embryos that were cryopreserved at −79°C for 1 day, 3 days, and 5 days, the embryos cryopreserved in liquid nitrogen, and the non-vitrified control. The blastocyst rate of embryos was significantly lower (P &lt; 0.01) for the Day 7 group than for the control group. The cell numbers of blastocysts were significantly lower (P &lt; 0.01) for the Day 1, Day 3, Day 5, and Day 7 groups than for the control group. This study suggests that vitrified mouse morulae can be successfully cryopreserved at −79°C for 5 days. Table 1. Effect of the cryopreservation period on the viability of vitrified mouse morulae preserved at −79°C


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