Investigating AXIN1 gene polymorphisms in Turkish children with cryptorchidism: A pilot study.

INTRODUCTION: Cryptorchidism is one of the most common congenital anomalies in male children, occurring in 2-5% of full-term male infants. Both genetic and environmental factors are observed to play a role in its etiology. A study conducted in Japan identified the AXIN1 gene as being associated with cryptorchidism. OBJECTIVE: We aimed to conduct a pilot study on AXIN1 gene polymorphism in Turkish children with cryptorchidism, and whether AXIN1 gene polymorphism is a risk factor for cryptorchidism. STUDY DESIGN: Between January 2023 and December 2023, we have planned a prospective controlled study including 84 boys operated for cryptorchidism as study group, and 96 boys operated for circumcision as control group. The remaining blood samples of preoperative laboratory tests in ethylenediamine tetraacetic acid (EDTA) tubes were kept at -20 Co freezer for genomic studies. Patient demographics, physical examination and operative findings were recorded, study patients were grouped according to testis localization. After collecting all samples, genomic DNA isolation procedure was done, and analysis of the 3 polymorphisms (rs12921862, rs1805105 and rs370681) of AXIN1 gene was performed using conventional Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) method. Genotype and allele frequencies of each group was analyzed and compared. RESULTS: The most common location of cryptorchid testis was proximal inguinal (53%), followed by distal inguinal (25.3%), bilateral (13.3%), and intra-abdominal (8.4%). Regarding the 3 polymorphisms of AXIN1 gene, there was no significant difference between study and control groups, in terms of genotype and allele frequencies (P > 0.05). Eight haplotype blocks were estimated for 3 polymorphisms of AXIN1. However, no significant difference was observed between study and control groups regarding haplotype distributions (P > 0.05). In addition, the comparison of the localization of testis with AXIN1 gene polymorphism did not show any significant difference among cryptorchid testis groups (P > 0.05). DISCUSSION: The AXIN1 gene is located on chromosome 16p and its polymorphisms have been associated with various diseases. In a Chinese study, the rs370681 polymorphism was found to be associated with cryptorchidism. However, our results showed no association between the AXIN1 gene haplotypes for the studied polymorphisms and cryptorchidism. CONCLUSION: In this study we have investigated the AXIN1 gene polymorphism in Turkish children with cryptorchidism as a pilot study. Although we could not identify any difference as compared to control group, further research is necessary to uncover the underlying molecular mechanisms contributing to the development of cryptorchidism.

The evolution of hypospadias publications: A bibliometric approach.

BACKGROUND/OBJECTIVE: Although the increasing prevalence of hypospadias has been reported in many countries, there is a lack of bibliometric studies that make a holistic assessment of the publications about this issue. This study aims to make a holistic evaluation, latest developments, and trend topics about hypospadias publications between 1980 and 2018 through bibliometric analysis. METHODS: All the publications about hypospadias published in the Web of Science index between 1980 and 2018 were downloaded and analyzed using bibliometric methods. The Spearman's correlation coefficient was utilized to analyze the correlations between economic productivity and performance of the countries on hypospadias. Linear regression analysis was performed to estimate the number of publications for the following years. RESULTS: Bibliometric analyses were performed with 1940 articles. With 527 (27.2%) publications, the USA was the country that made the most contribution to the literature. The top active 3 journals were the Journal of Urology, Journal of Pediatric Urology, and Urology. A high correlation was detected between hypospadias publication productivity and GDP (r=0.791, p<0.001). The regression analysis results showed that the expected number of articles to be produced was 95 (75-116) for 2019 and 106 (47-164) for 2024. CONCLUSIONS: This study provides a holistic evaluation of the articles about hypospadias, which is an anomaly that should be repaired and treated with surgery due to its potential problems for the children at kindergarten and school age. Increasing the collaboration between especially developing countries and research in different countries with samples from different communities through multidisciplinary studies are recommended.

The protective effect of Ganoderma lucidum on testicular torsion/detorsion-induced ischemia-reperfusion (I/R) injury.

PURPOSE: To investigate the protective effect of Ganoderma lucidum on testicular torsion/detorsion (T/D)-induced ischemia-reperfusion (I/R) injury. METHODS: Thirty male Wistar albino rats were randomly categorized into 3 groups: Group 1: sham, Group 2 ( T/D): 2,5 hours of ischemia and 7 days of reperfusion, Group 3 (T/D+ G. lucidum ): 2,5 hours of ischemia and 7 days of reperfusion and 7 days of 20 mg/kg via gastric gavage G. lucidum polysaccharides per day. Biochemical assays of Malondialdehyde (MDA), superoxide dismutase (SOD), Catalase (CAT), Glutathione (GSH) levels , histopathology and expression levels of VEGF and Bcl-2 with immunohistochemical methods were examined in testicular tissue. RESULTS: G. lucidum treatment was found to have prevented the T/D-induced I/R injury by decreasing MDA levels of the testis. SOD, CAT and GSH activities were decreased in group 2, while they were increased in group 3 (p<0.001) and significant improvement in the tube diameter was observed in group 3. Bcl-2-positive germinal cells were lowered in group 3 compared to the group 2. VEGF expression showed an increase in group 2, whereas it decreased in group 3. CONCLUSION: The antioxidant G. lucidum is thought to induce angiogenesis by reducing the apoptotic effect in testicular torsion-detorsion.

Comparison of Primary and Recurrent Urinary Tract Infections in Children.

Aim We aimed to compare the demographic and ultrasound data regarding first-episode urinary tract infections with recurrent infections in children. Methods A total of 509 children aged 0-16 years who were diagnosed to have a urinary tract infection (UTI) as confirmed with positive urinary culture tests were retrospectively investigated. A comparison of baseline parameters, responsible pathogen incidences, and ultrasound findings was made between children who had a single episode of UTI (n=418, 82.1%) with those having second or more recurrent episodes of urinary tract infection (n=91, 17.9%). Results The mean age of children with a single episode of urinary tract infection was significantly lower than those who had recurrent urinary tract infection (5.33±4.38 vs. 7.01±4.83 years, p=0.003). Incidences of Escherichia coli and Enterococcus faecalis was significantly higher in patients with recurrent urinary tract infection than those who had single episode (n=315, 75.4% vs. n=80, 87.9%, p=0.009 and n=8, 1.9% vs. n=9, 9.9%, p<0.001, respectively). An abnormal ultrasound was significantly more common in patients with recurrent urinary tract infection than those who had a single episode (n=41, 54.6% vs. n=59, 22.7%). Increased renal parenchymal echogenicity (p=0.002), bladder cystitis (p=0.01) and hydronephrosis (p<0.001) were significantly more common in patients with recurrent urinary tract infection than those who had a single episode of urinary tract infection. Conclusion Escherichia coli and Enterococcus faecalis were the most common responsible pathogens in recurrent urinary tract infections. Structural changes, such as hydronephrosis and bladder cystitis, are likely to have an important role in the etiology of children with recurrent urinary tract infection.

The Development of Necrotizing Enterocolitis Publications: A Holistic Evolution of Global Literature with Bibliometric Analysis.

INTRODUCTION: Despite the fact that necrotizing enterocolitis (NEC) is one of the reasons for morbidity and mortality in the newborn intensive care units, the literature indicates no bibliometric studies that made a holistic evaluation of the publications on this issue. This study aims to make a holistic evaluation of NEC publications to reveal the latest developments and trend topics. MATERIALS AND METHODS: Bibliometric analyses were performed by retrieving all the publications in Web of Science (WoS: Web of Science Core Collection database maintained by Clarivate Analytics) database between 1980 and 2018 using the "necrotizing enterocolitis" keyword. The correlations between economic productivity, humanity index, and performances of the countries on the topic of NEC were investigated with Spearman's correlation coefficient. RESULTS: A review of the related literature indicated 2,968 publications on NEC between 1980 and 2018. Of these publications, 1,690 (56.9%) were indexed in the article document category in WoS. There was an important increasing trend in the number of publications after 2006. Results of the present study showed that the Journal of Pediatric Surgery and Journal of Pediatrics were the top effective journal that contributed to the literature in terms of publication productivity. The top productive country that produced most publications about NEC was the United States (863, 51.1%). CONCLUSION: Research on NEC is conducted in a limited number of countries. There seem to be more research opportunities in the developed countries because survival rates of premature babies having a disease like NEC are lower in the undeveloped countries, and survival rates are higher in developed countries due to appropriate intensive care conditions. Therefore, undeveloped countries should be supported in terms of NEC and provided with funds.

Experimental study on prophylactic effects of vardenafil in ischemia-reperfusion model with intestinal volvulus injury in rats.

AIM: An experimental study was performed to evaluate the effects of Vardenafil on ischemia-reperfusion (I/R) injury in an experimental volvulus model by histochemical and biochemical methods. MATERIALS AND METHODS: Thirty-five male Wistar rats were divided in five groups (n = 7). In Group 1, a 5 cm segment of small intestine 2 cm proximal to cecum was excised to have a control group. In the second group, 5 cm segment of small intestine 2 cm proximal to cecum was rotated 360° clockwise direction and sutured with 4/0 polyglactin to generate an experimental model of volvulus. At the end of 2 h of ischemia, the same intestinal segment was sampled. In group 3, after achieving ischemia similar to group 2, two hours of reperfusion injury was obtained by removing the sutures. Rats in Group 4 received vardenafil after 1.5 h of ischemia and then 2 h of reperfusion. And finally, in Group 5, vardenafil was administered 2 h before laparotomy and 5 cm of intestine was removed without I/R injury. Intestinal segments were evaluated for total antioxidant status (TAS), total oxidant status (TOS) and oxidative stress index (OSI) with biochemical and histopathological analysis. RESULTS: Serum TOS levels and OSI were not significantly different between groups (p = 0.910, P = 0,43 respectively). The serum TAS level was decreased in group 3 as compared to vardenafil groups 4 and 5, without a statistical significance (p = 0.428). In histopathologic analysis, we found that vardenafil, partially reduced I/R injury. The villus structure was preserved but, congestion and inflammation were moderate. CONCLUSION: Vardenafil partially reduced I/R injury histopathologically on intestine. Our study shows that it does not have statistically antioxidant effect on intestinal I/R injury in experimental model of volvulus. However, effects of vardenafil in I/R injury of liver, kidney, heart, testis, over and brain which were cited in literature were not confirmed with I/R injury on intestine.

Cutaneous Ciliated Cyst in an Unusual Location: Between Two Scapulas.

Cutaneous ciliated cyst is defined as a rare, painless lesion frequently encountered on the lower extremities of young girls after puberty. The cyst is surrounded by the columnar ciliary epithelium. Apart from the lower extremities of girls, they may be localized on the scalp, scapula, thumb, abdomen, umbilicus, thigh, heel, knee, and gluteal region. There are two theories to explain this localization. The first is that they are mullerian heterotrophy, while the other is that they are ciliated metaplasia of eccrine glands. In this paper, we described a cutaneous ciliated cyst, which was observed with a previously undescribed localization on the back of a 13-year-old female patient.