This experiment was conducted to evaluate and compare the effects of a dietary inclusion with Aspergillus oryzae and Saccharomyces cerevisiae on productive performance, egg quality, intestinal morphology, and SGLT1 gene expression in laying Japanese quail. A total of 320 laying quails aged 47-day-old were randomly allocated to 8 treatments with 4 replicates of 10 quails each, for 7 weeks. The experimental diets consisted of a basal corn-soybean meal or control, control diet þ 50 mg/kg tetracycline, control diet þ 100 and 200 mg/kg A. oryzae, control diet þ 100 and 200 mg/kg S. cerevisiae, control diet þ 100 and 200 mg/kg of the combination of both A. oryzae and S. cerevisiae at equal proportions. At the end of the experiment, 4 quails per treatment were slaughtered, and tissue samples from the jejunum (1.5 cm in length) were removed for intestinal morphology measurements. Samples from the midsegment of the jejunum (150-200 mg) were taken to evaluate the gene expression of sodium-glucose cotransporter (SGLT1). The dietary inclusion of S. cerevisiae at 200 mg/kg significantly improved the feed conversion ratio (FCR) and egg production and reduced the feed intake (FI) (p < .001). The greatest shell thickness values were found in those fed on diets containing S. cerevisiae at 200 mg/kg. The quails fed on diets containing the combination of both probiotics at 100 mg/kg showed significantly higher egg weight (p < .001). Shell percent and yolk index increased significantly in quails fed on S. cerevisiae-supplemented diets at 100 mg/kg (p < .05). The villus height in the S. cerevisiae-supplemented group (200 mg/kg) was significantly higher than other groups (p < .05). The villus width was significantly higher in quails given 200 mg/kg A. oryzae compared to those received 100 mg/kg A. oryzae or 200 mg/kg S. cerevisiae (p < .05). Supplementation of S. cerevisiae at both tested levels resulted in significantly higher SGLT1 gene expression in the jejunum (p < .05). In conclusion, the results of this experiment demonstrated that among the two probiotics, S. cerevisiae at the level of 200 mg/kg as a functional feed additive has a better potential to improve productive performance, intestinal morphology, and SGLT1 gene expression of laying Japanese quails. HIGHLIGHTS Supplementation of diet with 200 mg/kg S. cerevisiae improved egg production, shell thickness, and FCR. The addition of 200 mg/kg S. cerevisiae to the diets improved the gut development by enhancing the villus height. Inclusion of diet with S. cerevisiae at both levels upregulated the gene expression of SGLT1.

BackgroundSteroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS. Over the past decade, extensive genetic heterogeneity has become evident while disease-causing variants are still only identified in 30% of cases in previously reported studies with proportion and type of variants identified differing depending on the age of onset and ethnical background of probands. A genetic diagnosis however can have implications regarding clinical management, including kidney transplantation, extrarenal disease manifestations, and, in some cases, even causal therapy. Genetic diagnostics therefore play an important role for the clinical care of SRNS affected individuals.Methodology and resultsHere, we performed NPHS2 Sanger sequencing and subsequent exome sequencing in 30 consanguineous Iranian families with a child affected by SRNS with a mean age of onset of 16 months. We identified disease-causing variants and one variant of uncertain significance in 22 families (73%), including variants in NPHS1 (30%), followed by NPHS2 (20%), WT1 (7%) as well as in NUP205, COQ6, ARHGDIA, SGPL1, and NPHP1 in single cases. Eight of these variants have not previously been reported as disease-causing, including four NPHS1 variants and one variant in NPHS2, ARHGDIA, SGPL1, and NPHP1 each.ConclusionIn line with previous studies in non-Iranian subjects, we most frequently identified disease-causing variants in NPHS1 and NPHS2. While Sanger sequencing of NPHS2 can be considered as first diagnostic step in non-congenital cases, the genetic heterogeneity underlying SRNS renders next-generation sequencing based diagnostics as the most efficient genetic screening method. In accordance with the mainly autosomal recessive inheritance pattern, diagnostic yield can be significantly higher in consanguineous than in outbred populations.

: Gastric cancer is one of the most common upper gastrointestinal malignancies. Some Iranian provinces, such as in the northern and northwestern areas, are at a high risk, whereas the central and western provinces are at a medium and the southern regions at low risk. This study was carried out to estimate the impact of the expression patterns of ASIC1 and IL-6 genes and the IL-6rs-174 and ASIC1rs 75624685 polymorphisms in the pathogenesis of gastric cancer. Materials and methods: Tetra-ARMS PCR was employed to analyze the polymorphism status of the ASIC1 and IL-6 genes with 85 paraffin-embedded tissue blocks from cases and 117 normal blood samples as controls. We also investigated mRNA expression levels of these genes in 12 cases and controls using real-time PCR. Results: Our results showed a significant association between expression of ASIC1 and elevated risk of gastric cancer (p<0.001).

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This experiment evaluated the effects of Saccharomyces cerevisiae (S. cerevisiae) and citric acid on production performance, egg quality, intestine histomorphology, and avian β-defensin 1 and 2 (AvBD 1 and 2) gene expressions in laying Japanese quails. A total of 400 48-day-old quails were randomly assigned to a 2×2×2 factorial arrangement of treatments with 5 replicates (each containing 10 quails) for 7 weeks. Variable factors consisted of S. cerevisiae (0 and 100 mg/kg diet), citric acid (0 and 5 g/kg diet), and Virginiamycin (0 and 50 mg/kg diet). At the completion of the trial, one bird per replicate was randomly killed, and jejunal tissue samples were removed to evaluate intestinal morphometric characteristics. Samples were taken from the midpoint of the jejunum to measure the gene expression of AvBD 1 and 2. Dietary inclusion of both S. cerevisiae and citric acid resulted in increased egg weight, egg mass, reduced feed intake, and improved FCR (p<0.05). The addition of S. cerevisiae to diets containing citric acid reduced feed intake, increased egg weight, and improved FCR (p<0.05). Shell weight and shell thickness were increased in birds fed each of S. cerevisiae and citric acid supplements (p<0.05). Dietary S. cerevisiae and citric acid similarly increased intestinal villus height, width, surface area, and the villus height to crypt depth ratio (p<0.0001). Results showed that AvBD 1 and 2 genes expression were up-regulated on quails fed S. cerevisiaesupplemented diets (p<0.0001). In conclusion, these results suggest that supplementation of S. cerevisiae and citric acid as functional feed additives either alone or in combination could be a potential alternative to antibiotics in the diet of Japanese laying quails.

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Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement disorder, ataxia, and eventually death. Diagnosis is often delayed due to the rarity of the conditions. Results: Here, we report a case presenting with clinical features of CLN2, carrying a homozygous novel nonsense variant in TPP1 (NM_000391:c.C832T, (p.Q278*), rs1352347549). Moreover, we performed a comprehensive literature review regarding previously identified disease-causing TPP1 mutations and genotype-phenotype correlations. Conclusion: Depending on the type of mutation, different phenotypes are observed in patients with CLN2, suggesting that the severity of phenotypes is related to the genotype of the patients.