Acute lymphoblastic leukemia (ALL) is a heterogeneous group of hematologic malignancies characterized by abnormal proliferation of immature lymphoid cells. It is the most commonly diagnosed childhood cancer with an almost 80% cure rate. Despite favorable survival rates in the pediatric population, a significant number of patients develop resistance to therapy, resulting in poor prognosis. ALL is a heterogeneous disease at the genetic level, but the intensive development of sequencing in the last decade has made it possible to broaden the study of genomic changes. New technologies allow us to detect molecular changes such as point mutations or to characterize epigenetic or proteomic profiles. This process made it possible to identify new subtypes of this disease characterized by constellations of genetic alterations, including chromosome changes, sequence mutations, and DNA copy number alterations. These genetic abnormalities are used as diagnostic, prognostic and predictive biomarkers that play an important role in earlier disease detection, more accurate risk stratification, and treatment. Identification of new ALL biomarkers, and thus a greater understanding of their molecular basis, will lead to better monitoring of the course of the disease. In this article, we provide an overview of the latest information on genomic alterations found in childhood ALL and discuss their impact on patients’ clinical outcomes.
Gynecological neoplasms pose a serious threat to women’s health. It is estimated that in 2020, there were nearly 1.3 million new cases worldwide, from which almost 50% ended in death. The most commonly diagnosed are cervical and endometrial cancers; when it comes to infertility, it affects ~48.5 million couples worldwide and the number is continually rising. Ageing of the population, environmental factors such as dietary habits, environmental pollutants and increasing prevalence of risk factors may affect the reproductive potential in women. Therefore, in order to identify potential risk factors for these issues, attention has been drawn to trace elements. Trace mineral imbalances can be caused by a variety of causes, starting with hereditary diseases, finishing with an incorrect diet or exposure to polluted air or water. In this review, we aimed to summarize the current knowledge regarding trace elements imbalances in the case of gynecologic cancers as well as female fertility and during pregnancy.
Human Papilloma Virus (HPV) is one of the most common sexually transmitted infections worldwide. HPV infection has a strong relationship with the onset of cervix uteri, vagina, penis, anus, and oropharynx, but also tonsils and tongue cancers. Some epidemiological data indicate that except for gynecologic cancers, HPV infection can be one of the risk factors associated with a greater risk of induction and progression of gastrointestinal cancers. Data, however, remain contradictory and definite conclusions cannot be drawn, so far. The following review aims to organize recent evidence and summarize the current state of knowledge regarding the association between HPV infection and gastrointestinal tumors primarily focusing on esophageal, liver, gastric, colorectal, and anal cancers.
Introduction: The human gut microbiota has become the subject of extensive research in recent years and the knowledge of the species inhabiting the gut is growing rapidly. Microbiota plays an important role in human health and diseases. It takes part in obtaining and storing energy, as well as in metabolic functions. The aim of the study: The purpose of the study is to collect and review scientific publications about the impact of gut microbiota on human health. Material and method: The paper uses standard criteria as the research method. The articles used to create the reviews were published on the PubMed and Google Scholar platforms. Description of the state of knowledge: Numerous studies suggest that composition of intestinal microbiota has impact on the long-term functioning of the human organism. Depressive disorders appear to be associated with changes in the microbiota. In depressed patients, fewer bacteria of the type Bacteroidetes and higher level of Alistipes are found. A few studies have demonstrated a link between gut microbial signatures and hypertension. Studies have shown that T2DM patients may have an altered composition of gut microbiota, mainly a decreased Bacteroidetes/ Firmicutes ratio and decrease in some functional bacteria when compared to healthy people. Intestinal microorganisms are also a key element in the proper functioning of the immune system by influencing the maturation process of the immune system's cells. Summary: To sum up, numerous studies indicate that abnormal composition of the intestinal microflora is the cause of not only faster development of metabolic syndrome, but also other diseases. It influences the development of circulatory, nervous or immune system diseases. Its abnormal composition is influenced by many factors such as diet, lifestyle or antibiotic therapy.
Introduction and purpose: COVID-19 is a highly contagious disease that is caused by a new strain of SARS-CoV-2 coronavirus (type 2 acute respiratory syndrome virus). Globally, as of 14 July 2021, there have been more than 4 million deaths and almost 190 million confirmed cases of infection. Mental health disorders are sets of behaviours, ways of thinking or perceiving and other mental activities and relations with other people which are a source of suffering or impediments to the individual functioning of the affected person. The most common mental health disorders are anxiety disorders, insomnia, depression and somatic disorders. State of knowledge: The COVID-19 pandemic has disrupted people's lives around the world through the rapid spread of the disease, high mortality and negative health effects. Over time, there is growing public concern that health systems may become overburdened and that adequate medical care will not be available to everyone affected by the disease. There are also concerns that isolation and reduced mobility will be long-term with serious consequences for mental health and well-being. Summary: There is already evidence of the negative psychological effects of the COVID-19 pandemic on children and adolescents, as well as the elderly who have been isolated, making these individuals more susceptible to developing long-term psychiatric disorders.
Acromegaly is a relatively rare disease, with the incidence of 0.2 - 1.1 cases in 100 000 people per year. Increased secretion of growth hormone (GH) is the main pathomechanism. GH stimulates the liver to the insulin-like growth factor type 1 (IGF-1) production. It leads to the tissues overgrowth, facial changes, metabolic and cardiovascular comorbidities, such as diabetes, hyperthyroidism, or hypertension. The main aim of this review is to provide the most up to date knowledge about epidemiology and risk factors of neoplasms which occur more often in acromegaly, than in the general population. Some studies showed that substances from the IGF group – including IGF-1, have a cancerogenic effect on the cells. According to that fact, groups of acromegalic patients were examined in the search for cancers. Studies delivered that there is a higher chance of neoplasms in acromegalic patients. The most widely described cancers in the relation with this disease are: prostate cancer, breast cancer, thyroid cancer, and colon cancer. There are some neoplasms which have lesser number of studies, such as: renal cancer, neoplasms of the female reproductive system, haematological cancers as well as osteosarcoma. Cancers occurs more frequently in acromegalic patients and have a major impact on patients' life-span. Early detection as well as quick provision with the adequate treatment is highly necessary for extending patients’ lives.
Introduction and purpose: More and more reports suggest that diabetes plays an important role in the pathogenesis of Alzheimer's disease (AD). Understanding this link may provide a new approach to modulating the onset and progression of sporadic AD cases. The aim of the study is to present the current state of knowledge on the basic mechanisms and factors influencing the development of AD in patients with type 2 diabetes in the context of clinical practice. State of knowledge: It is estimated that up to 80% of Alzheimer's patients have glucose intolerance or diabetes. Impaired insulin signaling can lead to abnormal processing and accumulation of beta-amyloid protein, which can result in memory deficits and cognitive decline. Insulin deficiency can also cause over-activity of the GSK3 enzyme, leading to tau hyperphosphorylation and senile plaque accumulation. Diabetes can also cause fibrotic changes in cerebral vessels, disrupting brain metabolism and potentially leading to hippocampus atrophy. The release of cytokines during the metabolic syndrome can also cause oxidative stress and neuroinflammation, which may contribute to neuronal atrophy. It has been reported that healthy diet, physical exercises and prevention of metabolic diseases may reduce the incidence of AD. Conclusions: Epidemiological data and pathophysiological studies indicate a significant relationship between these diseases that AD is sometimes called Type 3 diabetes. Early detection of hyperglycemia and its proper management, may be crucial in the context of the clinical prevention of dementia diseases. It is essential to pay attention to the cognitive abilities of patients with metabolic diseases.
Introduction and purpose: Male hypogonadism is diagnosed in patients with total testosterone under 9-12nmol/L (250-350ng/dl) in serum which is associated with numerous symptoms which can severely lower the quality of patients life. Due to the cause and associated levels of gonadotropins it can be divided to hypergonadotropic and hypogonadotropic hypogonadism. Hypogonadotropic hypogonadism occurs far less often, but it’s considered to remain underdiagnosed. The purpose of this study is to review most of the inborn diseases that involve hypogonadotropic hypogonadism as one of their components.Current state of knowledge: Patients with Kallmann syndrome constitute the majority of confirmed hypogonadotropic hypogonadism cases, however due to variable epidemiological data and differing diagnosing processes the exact incidence cannot be estimated – it ranges from 1 in 85 000, to 1 in 5000 males and about 3-4 times less often in women. Other conditions that can occur with hypogonadotropic hypogonadism are Isolated Gonadotropin-Releasing Hormone deficiency, Gonadotropin disorders, Prader-Willi Syndrome, some pleiotropic syndromes like CHARGE syndrome, Patau syndrome, Pfeiffer syndrome, Hartsfield syndrome, Waardenburg syndrome, Bardet-Biedl syndrome, or other syndromes. The evaluation and treatment of some of these conditions does not involve hypogonadism or other gonadal disorders due to short lifespan, which cause the underestimations in hypogonadism morbidity.Conclusions: Regardless of lower incidence of hypogonadotropic hypogonadism compared to hypergonadotropic type, endocrinologists should stay aware of its under-diagnosis and actively search for signs of low gonadotropic hormones and gonadotropin-releasing hormone levels in hypogonadal patients.
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