P1811GENETIC POLYMORPHISMS IN STAT4, VEGF2578 AND PTPN22 GENES IN CHILDREN WITH GLOMERULOPATHIES

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Ina Kazyra ◽  
Alexandr Sukala ◽  
Hanna Bialkevich ◽  
Anna Krylova-Alefirenko ◽  
Natalia Tur ◽  
...  

Abstract Background and Aims Glomerular diseases (GD) often have genetic predisposition, especially those autoimmune or immune complex-mediated. Our aim was to assess an impact of genetic polymorphism in STAT4 rs7574865 and rs3821236, VEGF rs699947 and PTPN22 rs2476601 on the risk of development of primary (PG) and secondary (SG) glomerulopathies in children. Method We enrolled 81 child with GD (m:f 33/48) and 335 healthy controls (m:f 184/151). Patients of the study group were arranged into two groups: 1st - with PG (38 children aged 3-17 yrs, 13±3,45, m:f 22/16) and 2nd - with SG (43 children aged 7-17 yrs, 13±3,59, m:f 11/32). 1st group included 35 patients with hereditary nephritis, 2 with IgA nephropathy, 1 – FSGS. 2nd group included 10 patients with ANCA associated vasculitis, 11 with IgA vasculitis, 22 with systemic lupus erythematosus (SLE). These patients were identified and monitored at the National Center for Pediatric Nephrology. Control group (CG) was matched with the study groups for age and sex and included 335 healthy children (m:f 184/151, age 2-17 yrs, 14,28±2,56). We analyzed DNA by polymerase chain reaction for identification of genotypes. Results The frequency of genotypes and allels for STAT4 rs 7574865 was found to be GG 55,26% in 1st, 46,51% in 2nd versus (vs) 62,09% in CG; GT 39,47%, 41,86% vs 32,24%; TT 5,26%, 11,63% vs 5,67%; for minor allele T 25,00%, 32,60% vs 21,79%, respectively. For STAT4 rs3821236: GG found in 65,79% in 1st, 55,81% in 2nd vs 65,07% in CG; GA genotype in 26,32%, 41,86% and 30,15%; AA genotype in 7,89%, 2,33% and 4,78%; minor allele A in 21,05%, 23,26% and 19,85%, respectively. For VEGF2578 rs 699947: AA 28,95% in 1st, 30,23% in 2nd vs 20,30% in CG; AC 44,74% and 51,16% vs 57,31%; CC 26,32% and 18,60% vs 22,39%; minor allele C 48,68%, 44,19% vs 51,04% in 1st and 2nd vs CG, respectively. For PTPN22: CC 68,42% in 1st, 59,46% in 2nd vs 72,95% in CG; CT 28,95%, 35,14%, 24,59%; TT 2,63%, 5,41% and 2,46%; minor allele T in 17,11%, 22,97% vs 14,75% in 1st,2nd and CG, respectively. The distribution of genotypes observed was tested with the Hardy-Weinberg Equilibrium. There were no differences found in rates of polymorphic genotypes in CG and patients with GD. For PTPN22 rs 2476601 and VEGF2578 rs6999467 no statistically significant difference between children of 1st, 2nd and CG was observed. We found the difference between patients with GD and healthy children (HC) for minor allele T of STAT4 rs7574865 (OR [95%CI]=1,73 [1,06-2,82], p=0,03), which was most prominent for female patients with SG (OR [95%CI]=2,31 [1,3-4,12], p=0,005). The development of SG was associated with the presence of GT+TT genotype (vs GG genotype) of STAT4 rs7574865 (OR=4,92; 95% CI [2,62-9,23]; p<0,001). Statistical testing showed significant differences between healthy female controls and SLE females for minor allele T of STAT4 rs7574865 (OR [95%CI]=2,14 [1,07-4,27], p=0,04) and GT+TT genotypes vs GG genotype of STAT4 rs7574865 (OR=2,54; 95%CI[1,00-6,42]; p<0,05). The analysis of genotypes/alleles for polymorphic locus rs3821236 of STAT4 revealed significant association of GA genotype (OR[95%CI]=2,55 [1,17-5,55], p=0,021), as well as of the sum of genotypes with at least one minor allele (GA+AA) (OR[95%CI]=3,51 [1,59-7,76], p=0,002) with the development of SG in girls. An association of the presence of the minor allele A of STAT4 rs3822136 with the likelihood of SG development in females was observed (OR[95%CI]=2,69 [1,5-4,83], p=0,001). Conclusion Minor allele T and GT+TT genotypes of STAT4 rs7574865 is associated with the risk of SG development in children and especially with the risk of SLE development in girls. Minor allele A and GA+AA genotypes of the STAT4 rs3822136 are associated with the predisposition to SG in girls. Minor allele T and GT+TT genotypes of the PTPN22 rs 2476601 are observed to be more frequent in both groups of GD and especially in girls, though failed to be statistically significant (p>0,05).

2020 ◽  
Vol 2 (1) ◽  
pp. 36-44
Author(s):  
Satyawan G. Damle ◽  
Ritika Bansal ◽  
Dhanashree D. Sakhare

Objective: To compare the success rate of different obturation procedures in primary mandibular second molars clinically and also by digital radiovisiography. Methods: A total of 40 children aged between 4-8 years with deeply carious mandibular second primary molars indicated for single session pulpectomy were selected. Canals were obturated with Metapex. The 3 study groups (Endodontic plugger, Handheld lentulospiral, Navi Tip syringe) were compared with the control group (reamer) both clinically and radiovisiographically. The data collected were statistically analyzed using Pearson’s Chi-square and Fisher’s exact test. Results: The use of Navi tip syringe led to the least number of voids followed by Endodontic plugger and Reamer and the highest number of voids was reported with Lentulospiral. Navitip presented maximum number of optimally filled cases followed by Endodontic plugger and Lentulospiral and least number of optimally filled cases with reamer. However, there was no statistically significant difference (p>0.05) in any of the groups with clinical (pain and tenderness to percussion) and radiographic parameters (presence or absence of voids and length of obturation). Conclusion: Within the limitations of the present study, though the clinical outcome was statistically insignificant, Navitip syringe exhibited encouraging results and is a promising option for obturation in primary teeth.


2020 ◽  
Vol 19 (1) ◽  
Author(s):  
Diana Ahu Prah ◽  
Linda Eva Amoah ◽  
Matthew P. Gibbins ◽  
Yaw Bediako ◽  
Aubrey J. Cunnington ◽  
...  

Abstract Background The immune mechanisms that determine whether a Plasmodium falciparum infection would be symptomatic or asymptomatic are not fully understood. Several studies have been carried out to characterize the associations between disease outcomes and leucocyte numbers. However, the majority of these studies have been conducted in adults with acute uncomplicated malaria, despite children being the most vulnerable group. Methods Peripheral blood leucocyte subpopulations were characterized in children with acute uncomplicated (symptomatic; n = 25) or asymptomatic (n = 67) P. falciparum malaria, as well as malaria-free (uninfected) children (n = 16) from Obom, a sub-district of Accra, Ghana. Leucocyte subpopulations were enumerated by flow cytometry and correlated with two measures of parasite load: (a) plasma levels of P. falciparum histidine-rich protein 2 (PfHRP2) as a proxy for parasite biomass and (b) peripheral blood parasite densities determined by microscopy. Results In children with symptomatic P. falciparum infections, the proportions and absolute cell counts of total (CD3 +) T cells, CD4 + T cells, CD8 + T cells, CD19 + B cells and CD11c + dendritic cells (DCs) were significantly lower as compared to asymptomatic P. falciparum-infected and uninfected children. Notably, CD15 + neutrophil proportions and cell counts were significantly increased in symptomatic children. There was no significant difference in the proportions and absolute counts of CD14 + monocytes amongst the three study groups. As expected, measures of parasite load were significantly higher in symptomatic cases. Remarkably, PfHRP2 levels and parasite densities negatively correlated with both the proportions and absolute numbers of peripheral leucocyte subsets: CD3 + T, CD4 + T, CD8 + T, CD19 + B, CD56 + NK, γδ + T and CD11c + cells. In contrast, both PfHRP2 levels and parasite densities positively correlated with the proportions and absolute numbers of CD15 + cells. Conclusions Symptomatic P. falciparum infection is correlated with an increase in the levels of peripheral blood neutrophils, indicating a role for this cell type in disease pathogenesis. Parasite load is a key determinant of peripheral cell numbers during malaria infections.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Melek Pehlivan ◽  
Tülay K. Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
Aslı Ö. Koçyiğit ◽  
...  

Abstract Objectives There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the TAGAP gene; however, there has been no study on Turkish pediatric patients. We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the TAGAP gene of Turkish pediatric patients. Methods Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest. Results It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele. Conclusions There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.


Animals ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1569
Author(s):  
Tomislav Šušnjar ◽  
Ivana Kuzmić Prusac ◽  
Ivan Švagelj ◽  
Anđela Jurišić ◽  
Tomislav Šušnjar ◽  
...  

Background: The aim of this study was to compare consequences in single and triple testicular biopsy by biopty gun in pubertal rats using histological and immunohistochemical analysis. Methods: Thirty-two Sprague-Dawley male rats were used as the experimental model. The rats were randomly divided into three study groups. The rats from the first group (n = 12) received a single-biopsy of upper pole of the left testis, while the rats from the second group (n = 10) received triple-biopsy of upper and lower poles and lateral surface of left testis. The third group (n = 10) was a control group. On the eightieth day after the biopsy in all rats bilateral orchiectomy and funiculectomy were performed to obtain testicular tissue and sperm for analysis. The consequences of the puncture were observed by pathohistology, immunohistochemistry and semen analysis. Results: The results of the study showed lower percentage of sperm count (14.5 mill/mL vs. 16 mill/mL, p = 0.130), sperm motility (24.6% vs. 32.7%, p > 0.05), abnormal sperm (30% vs. 27%, p > 0.05), atrophic tubules (21% vs. 6%, p < 0.001), volume (1.7 mL vs. 2.28 mL, p < 0.01) and apoptotic index (1.56 vs. 1.19, p = 0.650) in the testes with a triple-biopsy compared to the testes with a single-biopsy. Semen analysis showed a borderline significant difference between the group with triple-biopsy where sperm count was lower than it in the control group (14.5 mill/mL vs. 17.5 mill/mL, p = 0.05). A single-biopsy has little effect on the testis, especially on overall fertility. A triple-biopsy showed higher degree of the testicular damage but without a significant impact on overall fertility. Semen analysis showed that single- and triple-biopsies did not have a significant effect on sperm count, motility and morphology. Conclusion: Biopty gun procedure is a cheap, simple and reliable method for testicular biopsy in rats without a significant effect on sperm count, motility and morphology.


Author(s):  
Elif Karatoprak ◽  
Samet Paksoy

AbstractThe aim of this study was to investigate the thyroid functions in children receiving levetiracetam or valproate monotherapy. We retrospectively reviewed the records of children with controlled epilepsy receiving valproic acid (VPA group) or levetiracetam monotherapy (LEV group) for at least 6 months. Free thyroxine 4 levels (fT4) and thyroid stimulating hormone (TSH) levels were compared between VPA group, LEV group, and age- and gender-matched healthy children (control group). A total of 190 children were included in the study: 63 were in the VPA, 60 in the LEV, and 67 in the control group. Although there was no significant difference regarding average fT4 levels, higher TSH levels were found in the VPA group when compared with the LEV and control groups (p < 0.001 and p < 0.001, respectively). There was no significant difference in terms of fT4 and TSH values in the LEV group when compared with the control group (p = 0.56 and p = 0.61, respectively). Subclinical hypothyroidism (defined as a TSH level above 5 uIU/mL with a normal fT4 level was detected in 16% of patients in the VPA group, none in the LEV and control groups. Our study found that VPA therapy is associated with an increased risk of subclinical hypothyroidism while LEV had no effect on thyroid function tests.


2017 ◽  
Vol 45 (06) ◽  
pp. 343-349 ◽  
Author(s):  
Nicole Wente ◽  
Jan-Hendrik Paduch ◽  
Doris Klocke ◽  
Elisabeth Mansion-de Vries ◽  
Martina Hoedemaker ◽  
...  

SummaryObjective: The aim of the study was to investigate the use of somatic cell count (SCC) and aerobic bacterial counts as possible tools to choose animals for selective dry cow treatment (DCT) on cow level. Blanket antibiotic DCT is an approved and common method in Germany aimed at increasing the cure rate of existing intramammary infections (IMI) at the time of drying off and decreasing the risk of new infections during the dry period. However, not all animals benefit equally from an antibiotic DCT. Moreover, dairies, consumers and politicians demand a reduction in the use of antibiotics in farm animals. Several criteria for identifying animals which would benefit from antibiotic DCT have been described in the literature. Material and methods: Animals chosen for this investigation were divided into three study groups: Aerobic Count Petrifilm® group A (153 cows), SCC group S (160 cows) and control group C (169 cows). All quarters were treated with an internal teat sealant (ITS) no matter which group the cows belonged to. Results: Group C, in which all cows received an antibiotic DCT, achieved the best results referred to udder health, particularly regarding bacteriological dry period cure. However, the results of the two study groups A and S, in which the animals were dried off selectively, were only marginally worse. A significant difference regarding bacterial dry period cure was revealed between group S and group C (p = 0.039), whereas no significant difference concerning new IMI risk could be detected between the three study groups. Compared to a blanket antibiotic DCT of all cows in the corresponding study group, a reduction of the usage of antibiotics of 23.5 % (A) and 55 % (S) was noticed, respectively. Furthermore, it could be shown that the lactation number as well as the microorganisms present at the time of drying off influence udder health. Conclusion: Selective DCT is an alternative method to the widespread blanket antibiotic DCT. However, it has to be mentioned that selective DCT involves the described marginal decline in udder health and the additional amount of time, which might arise from the procedure of choosing the right animals and performing the applied rapid test methods.


2021 ◽  
pp. 20200505
Author(s):  
Aykağan Coşgunarslan ◽  
Emin Murat Canger ◽  
Damla Soydan Çabuk

Objectives: Proton pump inhibitors (PPI) provide a long-lasting anti-acidic effect by inhibiting the proton pump, and they are one of the most commonly prescribed drugs worldwide. PPIs adversely affect the bone structure via deficiency of vitamins and minerals. The aim of this study was to investigate the possible PPI-induced bone changes in the mandible on panoramic radiographs with the methods of fractal analysis and panoramic morphometric indices. Methods: Panoramic radiographs of 402 patients were used (201 PPI users, 201 control group). Fractal analysis was performed on 4 regions of interests (ROI): 1- upper part of the ramus, 2- angulus, 3- anterior of the mental foramen, 4- distal of the middle ramus. Also, the panoramic mandibular index (PMI), mandibular cortical width (MCW), and Klemetti index (KI) were performed on radiographs. Results: There were significant differences in terms of ROI3, MCW, and KI between the control and study groups (p < 0.05) while there was no significant difference for ROI1, ROI2, ROI4, and PMI (p > 0.05). Males were severely affected than females. Conclusions: Osteoporotic changes were detected in the trabecular and cortical bone in the mental foramen region in PPI users with fractal analysis and morphometric indices, while there were no differences for mandibular ramus and angulus regions according to fractal analysis.


2014 ◽  
Vol 86 (3) ◽  
pp. 212 ◽  
Author(s):  
Orhan Koca ◽  
Mehmet Akyüz ◽  
Bilal Karaman ◽  
Zeynep Yesim Özcan ◽  
Metin Öztürk ◽  
...  

Objectives: Nocturnal enuresis (NE) is very common and is one of the most common causes for patients to be admitted to urology, pediatrics, child psychiatry and child surgery departments. We aimed to investigate the effect on depression and self-esteem of this disorder that can cause problems on person's social development and human relations. Material and methods: 90 patients who were admitted to our clinic with complaints of nocturnal enuresis were enrolled. Investigations to rule out organic causes were performed in this group of patients. Out of them 38 children and adolescents (age range 8-18 years) with primary monosymptomatic nocturnal enuresis (PMNE) agreed to participate in the study In the same period 46 healthy children and adolescents with a similar age range without bed wetting complaint were included in the study as a control group. The age of the family, educational and socioeconomic level were questioned and Piers-Harris Children's Self-Concept Scale (PHCSCS) and Children's Depression Inventory (CDI) forms were filled out. Results: Mean age of the cases (18 females or 47.4% and 20 males or 52.6%) was 10.76 ± 3.82 years whereas mean age of controls (26 females or 56.5% and 20 males or 43.5%) was 10.89 ± 3.11 years. Depression scale was significantly higher (p = 0.001) in the case group than in the control group (10.42 ± 4.31 vs 7.09 ± 4.35). In both groups there was no statistically significant difference by age and sex in terms of depression scale (p &gt; 0.05). Conclusion: NE is widely seen as in the community and is a source of stresses either for children and for their families. When patients were admitted to physicians for treatment, a multidisciplinary approach should be offered and the necessary psychological support should be provided jointly by child psychiatrists and psychologists.


2015 ◽  
Vol 52 (4) ◽  
pp. 272-277 ◽  
Author(s):  
Sedat IŞIKAY ◽  
Şamil HIZLI ◽  
Serkan ÇOŞKUN ◽  
Kutluhan YILMAZ

Background - Celiac disease is an autoimmune systemic disorder in genetically predisposed individuals precipitated by gluten ingestion. Objective - In this study, we aimed to determine asymptomatic spike-and-wave findings on electroencephalography in children with celiac disease. Methods - A total of 175 children with the diagnosis of celiac disease (study group) and 99 age- and sex-matched healthy children as controls (control group) were included in the study. In order to determine the effects of gluten free diet on laboratory and electroencephalography findings, the celiac group is further subdivided into two as newly-diagnosed and formerly-diagnosed patients. Medical histories of all children and laboratory findings were all recorded and neurologic statuses were evaluated. All patients underwent a sleep and awake electroencephalography. Results - Among 175 celiac disease patients included in the study, 43 were newly diagnosed while 132 were formerly-diagnosed patients. In electroencephalography evaluation of patients the epileptiform activity was determined in 4 (9.3%) of newly diagnosed and in 2 (1.5%) of formerly diagnosed patients; on the other hand the epileptiform activity was present in only 1 (1.0%) of control cases. There was a statistically significant difference between groups in regards to the presence of epileptiform activity in electroencephalography. Pearson correlation analysis revealed that epileptiform activity in both sleep and awake electroencephalography were positively correlated with tissue transglutaminase levels (P=0.014 and P=0.019, respectively). Conclusion - We have determined an increased epileptiform activity frequency among newly-diagnosed celiac disease patients compared with formerly-diagnosed celiac disease patients and control cases. Moreover the tissue transglutaminase levels were also correlated with the presence of epileptiform activity in electroencephalography. Among newly diagnosed celiac disease patients, clinicians should be aware of this association and be alert about any neurological symptoms.


Pteridines ◽  
2017 ◽  
Vol 28 (3-4) ◽  
pp. 177-183 ◽  
Author(s):  
Angel Fenol ◽  
V.R. Swetha ◽  
Sajitha Krishnan ◽  
Jayachandran Perayil ◽  
Rajesh Vyloppillil ◽  
...  

AbstractNeopterin is a novel predictor for coronary events especially in diabetic patients and also an indicator for the effectiveness of the periodontal treatment. In this study, we assessed whether salivary neopterin can be used as a potential biomarker in evaluating the risk of cardiovascular disease in type 2 diabetic patients with chronic periodontitis. Forty subjects between 25 and 75 years of age and who matched the criteria were selected and divided into four groups. Their periodontal status was evaluated. Stimulated whole saliva and blood were collected for analysis of salivary neopterin and fibrinogen and HbA1c levels, respectively. Nonsurgical periodontal therapy was carried out. Patients were recalled after 3 months, and the same procedure was repeated. A reduction in all the parameters was seen after treatment in all the four groups. Salivary neopterin levels showed significant difference (p<0.001) in the values between the study groups and the control group before treatment. After 3 months of treatment, salivary neopterin levels showed a statistical significant reduction (p<0.001) in all the study groups. Neopterin could serve as an effective tool to assess the inflammatory process related to periodontitis and diabetes mellitus and also predict future cardiovascular events in diabetic patients.


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