Association of polymorphism (RS1800896) of IL-10 gene and IL-10 gene expression in ovarian cancer patients from Georgia

Background/Aim: Ovarian cancer is one of the most important causes of tumour-associated mortality and morbidity in women. Some genetic alterations, determining predisposition to ovarian cancer have already been identified, but these are mostly syndrome-associated cases, most ovarian tumours are still regarded as sporadic. The aim of this research was to identify new predisposing factors that might increase ovarian cancer risk. Genetic variants of IL-10 gene in patients with ovarian cancer was analysed. Methods: Forty-eight patients with ovarian cancer along with 48 agematched controls were included in the study. Single nucleotide polymorphism (SNP) genotyping and gene expression assays for IL-10 were performed using TaqMan assay (Thermo Scientific, USA). The selected SNP was rs1800896 upstream of IL-10 gene (IL-10-1082). All statistical analyses were performed by GraphPad Prism 9.3.1 for Mac. Results: The genotype distributions of IL-10 gene polymorphisms among cancer and control groups were all according to the expected Hardy-Weinberg equilibrium. There was no statistically significant difference in frequency of genotypes and alleles between the two study groups (p > 0.05). In another analysis, the samples were grouped according to the polymorphic variant IL-10 (-1082) A/G. Subjects having the homozygous variant (A/A) had lower IL-10 mRNA levels than those with the homozygous wild (G/G) genotype in both, ovarian cancer patients and controls, p < 0.05. mRNA levels on IL-10 were different among cases and controls (p < 0.05). Patients with ovarian cancer had higher level of mRNA for IL-10. Conclusions: These results support the theory that IL-10 gene expression levels differ in patients with and without ovarian cancer. Polymorphic variant IL-10 (-1082) A/G couldn't be confirmed to explain this difference in gene expression levels

A de novo chromosome 9p duplication in a female child with short stature and developmental delay

Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disability, and characteristic facial dysmorphic features. The most common origin of this syndrome is malsegregation of a parental reciprocal translocation. Only about 25 cases are reported as de novo in the literature, the rest being inherited from asymptomatic balanced carrier parents. We report an additional new case of de novo partial trisomy 9p in an 8-year-old girl, and describe her clinical manifestations and diagnostic testing results

The central nucleus of amygdala is involved in tolerance to the antinociceptive effect of NSAIDs

Velike sportske manifestacije izazivaju globalnu pozornost i imaju izrazito velik utjecaj na zemlju odnosno grad domaćina. Bez obzira na velik broj dugoročnih i kratkoročnih ekonomskih koristi za zemlju domaćina, vlada kriza interesa za domaćinstvo Olimpijskih igara prije svega zbog milijunskih troškova organizacije. Zahtjevi prema gradovima domaćinima su veliki. Uz sportske kapacitete, potrebno je osigurati olimpijsko selo sportašima, smještaj organizatorima, medijima, gostima, transport i još dosta drugih popratnih stvari. Već i sam proces kandidiranja, prije nego se uopće krene s organizacijom, može biti prilično skup. U ovom diplomskom radu, na primjeru Olimpijskih igara u Sočiju koje slove za jedne od najskupljih u povijesti, analiziraju se prije svega negativni utjecaji velikih sportskih manifestacija na turizam i odnos troškova i koristi organizacije. Neiskorištena infrastruktura čije održavanje stoji milijune dolara, proračunski minusi, nezadovoljstvo lokalnog stanovništva i pad podrške istog za takvim manifestacijama rezultat su neprilagođene strategije organiziranja takve manifestacije za što je Soči odličan primjer jer je kao grad s suptropskom klimom bio domaćin Zimskim olimpijskim igrama.Mega sport events attract global attention and have a huge impact on the host country or city. Despite the large number of long-term and short-term economic benefits to the host country, there is a crisis of interest in hosting the Olympic Games, primarily due to enormous costs related to the organization of events. Requirements for host cities are high. In addition to sports facilities, it is necessary to provide the Olympic Village with athletes, accommodation for organisers, media, guests, transportation and many other related costs. The very process of applying, before moving on with the organization at all, can be quite expensive. In this master thesis, the example of the Sochi Olympics, which is considered one of the most expensive in history, will highlight the negative impacts of major sporting events on tourism in the country and the balance between cots and benefits of hosting the event. Unused infrastructure worth millions of dollars, budget holes, dissatisfaction of the local population and a decline in support for such events are the result of an unadapted strategy for organizing such a manifestation. Sochi stands as a prime example because it hosted the Winter Olympics as a subtropical climate

First case report of Nager syndrome patient from Georgia

Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosomal recessive and autosomal dominant modes of inheritance have been reported, most cases of Nager syndrome are spontaneous. Heterozygous variants in SF3B4 on chromosome 1q21 are found in approximately 60% of patients. Here, we report a first patient from Georgia diagnosed with Nager syndrome with detailed description of its clinical manifestations and diagnosis

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report

Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combination of I1234V and 1677delTA variants with classic CF features, the third child with a combination of I1234V and L997F variants with atypical CF, and the apparently healthy mother with a combination of 1677delTA and L997F alleles. Interestingly, the sibling with I1234V and L997F variants had normal sweat test results and had a much milder phenotype than the other two siblings with I1234V and 1677delTA variants, suggesting that this combination is causative for atypical CF. The fact that their mother with the combination of 1677delTA and L997F appears to be healthy suggests that the L997F variant causes different phenotypes in different allele combinations. The current cases show that there is a genotype-phenotype correlation in this disease and underline the importance of genotyping individuals with suspected CF to allow prediction of disease severity and effective treatment

Antinociceptive tolerance to NSAIDs in the anterior cingulate cortex is mediated via endogenous opioid mechanism

Abstract Background In the past decade several studies have reported that in some brain areas, particularly, in the midbrain periaqueductal gray matter, rostral ventro-medial medulla, central nucleus of amygdala, nucleus raphe magnus, and dorsal hippocampus, microinjections of non-steroidal anti-inflammatory drugs (NSAIDs) induce antinociception with distinct development of tolerance. Given this evidence, in this study we investigated the development of tolerance to the analgesic effects of NSAIDs diclofenac, ketorolac and xefocam microinjected into the rostral part of anterior cingulate cortex (ACC) in rats. Methods Male Wistar experimental and control (saline) rats were implanted with a guide cannula in the ACC and tested for antinociception following microinjection of NSAIDs into the ACC in the tail-flick (TF) and hot plate (HP) tests. Repeated measures of analysis of variance with post-hoc Tukey-Kramer multiple comparison tests were used for statistical evaluations. Results Treatment with each NSAID significantly enhanced the TF and HP latencies on the first day, followed by a progressive decrease in the analgesic effect over a 4-day period, i.e., developed tolerance. Pretreatment with an opioid antagonist naloxone completely prevented the analgesic effects of the three NSAIDs in both behavioral assays. Conclusions These findings support the concept that the development of tolerance to the antinociceptive effects of NSAIDs is mediated via an endogenous opioid system possibly involving descending pain modulatory systems