70 research outputs found

    Gastric cancer : epidemiology, risk factors, classification, genomic characteristics and treatment strategies

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    Gastric cancer (GC) is one of the most common malignancies worldwide and it is the fourth leading cause of cancer-related death. GC is a multifactorial disease, where both environmental and genetic factors can have an impact on its occurrence and development. The incidence rate of GC rises progressively with age; the median age at diagnosis is 70 years. However, approximately 10% of gastric carcinomas are detected at the age of 45 or younger. Early-onset gastric cancer is a good model to study genetic alterations related to the carcinogenesis process, as young patients are less exposed to environmental carcinogens. Carcinogenesis is a multistage disease process specified by the progressive development of mutations and epigenetic alterations in the expression of various genes, which are responsible for the occurrence of the disease

    Helicobacter pylori cytotoxin-associated gene A virulence and its association with the epithelial-mesenchymal transition in gastric cancer

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    Gastric cancer is currently one of the most prevalent malignancies worldwide with a high mortality rate. Helicobacter pylori (H. pylori) infection significantly contributes to the onset and progression of gastric cancer mainly due to the induction of chronic inflammatory responses. The pathogenicity of H. pylori is associated with a vast number of virulence factors among which cytotoxin-associated gene A (CagA) plays a crucial role. We conducted a literature review of PubMed, Web of Science, and Scopus on September 1st, 2021. There were no limits regarding the year and the language of publication. Articles included in this review concerned human and animal studies. The following search string was applied during the search: (gastric cancer) AND (epithelial-mesenchymal transition) AND (Helicobacter pylori) AND (cytotoxin-associated gene A). The final analysis included 135 articles independently reviewed by the authors. H. pylori CagA-positive strains seem to be more virulent compared to the CagA-negative strains. CagA pathogenicity includes the increased secretion of pro-inflammatory cytokines, induction of cancer stem cell-like properties, apoptosis prevention, or overactivation of particular oncogenic pathways. H. pylori might induce epithelial-mesenchymal transition (EMT) via numerous pathways, among which CagA-related pathogenicity is considered to be of high significance. Mechanisms associated with CagA action are involved in the maintenance of chronic H. pylori infection, subsequent EMT induction, and further onset and progression of gastric cancer. Because of a huge number of H. pylori strains with different virulence mechanisms, the clinical outcome of patients is also associated with the particular type of strain that infected a patient

    Determining Curie temperature of (Ga,Mn)As samples based on electrical transport measurements: low Curie temperature case

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    In this paper we show that the widely accepted method of the determination of Curie temperature (TC) in (Ga,Mn)As samples, based on the position of the peak in the temperature derivative of the resistivity,completely fails in the case of non-metallic and low-TC unannealed samples. In this case we propose an alternative method, also based on electric transport measurements, which exploits temperature dependence of the second derivative of the resistivity upon magnetic field.Comment: 5 pages, 3 figure

    Overtraining syndrome - what we already know

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    Introduction: Overtraining syndrome (OTS) is a state of excess sportsmen's overload caused by too high an intensity of training. The main cause of OTS is too big a training load. Also, they are other risk factors like restrictive diets, inordinate stress, and inflated expectations of a family and a coach. Description of the state of knowledge: despite numerous hypotheses like dysregulation of hypothalamus and pituitary, inflammatory hypothesis, and glycogen hypothesis the exact cause of OTS is not fully understood. None of these hypotheses explains completely all of the symptoms. In diagnosis, several laboratory tests are required to exclude other diseases. After it, because of possible systemic character diagnostic process of OTS is still problematic. One of the diagnostic methods relies on the measurement of hormone levels. Another potential diagnostic method is the measurement of saliva immunoglobulins and other anti-viral proteins. Also, the measurement of serum cell-free DNA can be used. After the onset of OTS, the most important treatment method is rest, which should last for 6-12 weeks or longer. Nowadays, treatment options are looking for shortenings this time. These options are anti-inflammatory drugs and repeated hypoxia-hyperoxia exposure combined with low-intensity training. Since the only well-established treatment method is prolonged rest, prevention is the most important aspect of OTS management. Adequate education of young athletes and their parents is also important. Summary: Overtraining syndrome is a serious problem that concerns many athletes. This problem not only affects results and careers but also sportsmen’s life. Because of the wide scope of symptoms, which can be often nonspecific making the correct diagnosis can be difficult

    Current strategies of the brachial plexus palsy management

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    The importance of brachial plexus palsy treatment is associated with its significant severity, along with Brachial plexus palsies can be treated by means of many different surgical and non-surgical methods which allow regeneration of full efficiency of the affected limb. The choice of method depends on such factors as type and region of injury, patient’s age or clinical presentation of the injury. The purpose of this review is to present current strategies of treating brachial plexus palsies, depending on therapeutic needs of the particular patient. This is a review study based upon selective literature overview, with emphasis on works published within past 13 years. 6 separate methods of brachial plexus palsy were assessed, without distinction of the reason of palsy occurring. Some of the invasive methods include operative treatment performed directly on occupied nervous tissue, such as microneural plexus reconstruction and nerve transfers (lower subscapular nerve transfer and contralateral C7 nerve transfer) whilst the others revolve around restoration of function of affected neighboring structures by themselves, e.g. shoulder tendon transfers. Rehabilitation and botulinum toxin-based treatment are non-operative methods revolving around enhancement of the function of the affected upper limb. Main measure of effectiveness of the treatment is assessment of the range of motion of the affected limb (ROM). There is still not enough information available regarding long-term efficiency of microneural plexus reconstruction and botulinum toxin-based treatment. They require further investigation while other methods are used commonly

    Optic nerve neuropathies – causative factors, methods of diagnostics, current and future possibilities of treatment

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    Introduction:  Optic neuropathies are a broad group of diseases in which the dominant disturbance is damage to the optic nerve, often irreversible. Underlying causes of neuropathy are both genetic and environmental. Despite limited treatment options, much research is currently being done on substances that could improve optic nerve function and alleviate the clinical consequences of optic nerve damage. Purpose: This article describes current findings in both the optic nerve neuropathy pathophysiology and diagnosis of the disorder, as well as treatment options and future perspectives. State of knowledge: The pathogenetic cause of neuropathy is mainly demyelination within the neural sheath, often caused by inflammation. It is characterized by progressive loss of vision. The most common genetic cause of optic neuropathy is mitochondrially inherited Leber hereditary optic neuropathy (LHON) and is characterized by mostly sudden and painless loss of visual acuity. Toxic neuropathies are a group of diseases caused by heavy metals, pharmaceuticals, methanol and carbon monoxide. Nutritional neuropathy is mainly related to vitamin B1, B9 and B12 deficiency, and is a rare example of neuropathy that can be curable at the early stage of the disease. Another group of neuropathies is caused by ischemia and can be divided according to the place of the optic nerve affected – AION (anterior ischemic optic neuropathy) and PION (posterior ischemic optic neuropathy). Conclusions: The therapeutic options in the treatment of optic neuropathy strictly depend on the causative factor. Nutritional deficiencies are treated with appropriate supplementation, so it is vital to truly determine the missing vitamins and elements

    High-throughput sequencing of gastric cancer patients : unravelling genetic predispositions towards an early-onset subtype

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    Background: Gastric cancer is the fourth most common cause of cancer-related death. Currently, it is broadly accepted that the molecular complexity and heterogeneity of gastric cancer, both inter- and intra-tumor, display important barriers for finding specific biomarkers for the early detection and diagnosis of this malignancy. Early-onset gastric cancer is not as prevalent as conventional gastric carcinoma, but it is a preferable model for studying the genetic background, as young patients are less exposed to environmental factors, which influence cancer development. Aim: The main objective of this study was to reveal age-dependent genotypic characteristics of gastric cancer subtypes, as well as conduct mutation profiling for the most frequent alterations in gastric cancer development, using targeted next-generation sequencing technology. Patients and methods: The study group included 53 patients, consisting of 18 patients with conventional gastric cancer and 35 with an early-onset subtype. The DNA of all index cases was used for next-generation sequencing, employing a panel of 94 genes and 284 single nucleotide polymorphisms (SNPs) (TruSight Cancer Panel, Illumina), which is characteristic for common and rare types of cancer. Results: From among the 53 samples processed for sequencing, we were able to identify seven candidate genes (STK11, RET, FANCM, SLX4, WRN, MEN1, and KIT) and nine variants among them: one splice_acceptor, four synonymous, and four missense variants. These were selected for the age-dependent differentiation of gastric cancer subtypes. We found four variants with C-Score ≥ 10, as 10% of the most deleterious substitutions: rs1800862 (RET), rs10138997 (FANCM), rs2230009 (WRN), and rs2959656 (MEN1). We identified 36 different variants, among 24 different genes, which were the most frequent genetic alterations among study subjects. We found 16 different variants among the genes that were present in 100% of the total cohort: SDHB (rs2746462), ALK (rs1670283), XPC (rs2958057), RECQL4 (rs4925828; rs11342077, rs398010167; rs2721190), DDB2 (rs326212), MEN1 (rs540012), AIP (rs4930199), ATM (rs659243), HNF1A (rs1169305), BRCA2 (rs206075; rs169547), ERCC5 (rs9514066; rs9514067), and FANCI (rs7183618). Conclusions: The technology of next-generation sequencing is a useful tool for studying the development and progression of gastric carcinoma in a high-throughput way. Our study revealed that early-onset gastric cancer has a different mutation frequency profile in certain genes compared to conventional subtype

    COVID-19: Specific and Non-Specific Clinical Manifestations and Symptoms: The Current State of Knowledge

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    Coronavirus disease 2019 (COVID-19), due to the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), has become an epidemiological threat and a worldwide concern. SARS-CoV-2 has spread to 210 countries worldwide and more than 6,500,000 confirmed cases and 384,643 deaths have been reported, while the number of both confirmed and fatal cases is continually increasing. COVID-19 is a viral disease that can affect every age group-from infants to the elderly-resulting in a wide spectrum of various clinical manifestations. COVID-19 might present different degrees of severity-from mild or even asymptomatic carriers, even to fatal cases. The most common complications include pneumonia and acute respiratory distress syndrome. Fever, dry cough, muscle weakness, and chest pain are the most prevalent and typical symptoms of COVID-19. However, patients might also present atypical symptoms that can occur alone, which might indicate the possible SARS-CoV-2 infection. The aim of this paper is to review and summarize all of the findings regarding clinical manifestations of COVID-19 patients, which include respiratory, neurological, olfactory and gustatory, gastrointestinal, ophthalmic, dermatological, cardiac, and rheumatologic manifestations, as well as specific symptoms in pediatric patients

    Liver Steatosis, Gut-Liver Axis, Microbiome and Environmental Factors. A Never-Ending Bidirectional Cross-Talk

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    The prevalence of non-alcoholic fatty liver disease (NAFLD) is increasing worldwide and parallels comorbidities such as obesity, metabolic syndrome, dyslipidemia, and diabetes. Recent studies describe the presence of NAFLD in non-obese individuals, with mechanisms partially independent from excessive caloric intake. Increasing evidences, in particular, point towards a close interaction between dietary and environmental factors (including food contaminants), gut, blood flow, and liver metabolism, with pathways involving intestinal permeability, the composition of gut microbiota, bacterial products, immunity, local, and systemic inflammation. These factors play a critical role in the maintenance of intestinal, liver, and metabolic homeostasis. An anomalous or imbalanced gut microbial composition may favor an increased intestinal permeability, predisposing to portal translocation of microorganisms, microbial products, and cell wall components. These components form microbial-associated molecular patterns (MAMPs) or pathogen-associated molecular patterns (PAMPs), with potentials to interact in the intestine lamina propria enriched in immune cells, and in the liver at the level of the immune cells, i.e., Kupffer cells and stellate cells. The resulting inflammatory environment ultimately leads to liver fibrosis with potentials to progression towards necrotic and fibrotic changes, cirrhosis. and hepatocellular carcinoma. By contrast, measures able to modulate the composition of gut microbiota and to preserve gut vascular barrier might prevent or reverse NAFL

    Epicardial adipose tissue and right ventricular dysfunction in patients with acute pulmonary embolism

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    Epicardial adipose tissue has been linked with increased cardiovascular morbidity. Its correlation with right ventriclar morphology and physiology is a recent concept. The aim of the study was to analyze severity of right ventricular dysfunction in the course of acute pulmonary embolism with the amount of epicardial adipose tissue. Retrospective analsis of 192 computed tomography studies with confirmed pulmonary embolism was performed. Patients were divided into two groups with low and high amount of epicardial adipose tissue. Although no significant differences of BMI and severity of pulmonary embolism were observed between the groups, in patients with high amount of epicardial fat, right ventricular dysfunction was significantly more severe
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