Marek Ruchała's research while affiliated with Poznan University of Medical Sciences and other places

Publications (475)

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Adrenocortical carcinomas (ACC) are rare endocrine malignancies, often with a poor prognosis. Visfatin/NAMPT regulates a variety of signaling pathway components, and its overexpression has been found in carcinogenesis. Our study aimed to assess the clinical usefulness of visfatin/NAMPT serum level in discriminating between ACC and benign adrenocort...
Article
Neuroendocrine tumors are a heterogeneous group of neoplasms originating from the diffuse endocrine system. Depending on primary location and hormonal status, they range in terms of clinical presentation, prognosis and treatment. Functional tumors often develop symptoms indicating an excess of hormones produced by the neoplasm (exempli gratia insul...
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Thyroid hormones influence female fertility, directly stimulating oocyte maturation and regulating prolactin and sex hormone binding globulin (SHBG) concentrations. Hyperthyroidism affects 1-2%, overt hypothyroidism 0.3%, and subclinical hypothyroidism up to 15% of women of childbearing age. Approximately 10% of euthyroid women have elevated concen...
Article
Nearly 30% of patients with lipid profile abnormalities suffer from secondary dyslipidaemias. Endocrine disorders are one of the most important causes of dyslipidaemia. Dyslipidaemia can be observed in the pathologies of a variety of endocrine glands, including the thyroid, the pituitary, the adrenals, and the gonads. The most common endocrinopathy...
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The demand for selenium (Se) increases during pregnancy since this element supports child growth, proper neuronal development and maternal thyroid function. The issue is particularly relevant for populations living in areas with a limited selenium supply, where many pregnant women opt for Se supplementation. The efficiency of this measure is unknow...
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Updated Polish recommendations for the management of patients with neuroendocrine neoplasms (NENs) of the small intestine (SINENs) and of the appendix (ANENs) are presented herein. The small intestine, and especially the ileum, is one of the most common locations for these neoplasms. Most of them are well-differentiated and slow-growing tumours; un...
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Colorectal neuroendocrine neoplasms (CRNENs), especially rectal tumours, are diagnosed with increased frequency due to the widespread use of colonoscopy, including screening examinations. It is important to constantly update and promote the principles of optimal diagnostics and treatment of these neoplasms. Based on the latest literature and arrang...
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Continuous progress in the diagnostics and treatment of neuroendocrine neoplasms (NENs), the emerging results of new clinical trials, and the new guidelines issued by medical societies have prompted experts from the Polish Network of Neuroendocrine Tumours to update the 2017 recommendations regarding the management of neuroendocrine neoplasms. This...
Article
Thyroid hormones (THs) play an important role in the regulation of energy metabolism. They also take part in processes associated with the central nervous system (CNS), including survival and differentiation of neurons and energy expenditure. It has been reported that a correlation exists between the functioning of the thyroid gland and the symptom...
Article
In this paper, we present the current guidelines for the diagnostics and management of pancreatic neuroendocrine neoplasms (PanNENs) developed by Polish experts providing care for these patients in everyday clinical practice. In oncological diagnostics, in addition to biochemical tests, molecular identification with the use of NETest liquid biopsy...
Article
After another meeting of experts of the Polish Network of Neuroendocrine Tumours, updated recommendations for the management of patients with gastric and duodenal neuroendocrine neoplasms (GNENs and DNENs), including gastrinoma, have been issued. As before, the epidemiology, pathogenesis, and clinical symptoms of these neoplasms have been discussed...
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Hashimoto’s thyroiditis (HT) is the most common autoimmune disease and the leading cause of hypothyroidism, in which damage to the thyroid gland occurs due to the infiltration of lymphocytes. It is characterized by increased levels of antibodies against thyroid peroxidase and thyroglobulin. In this review, we present the metabolic profile, the effe...
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The complex mechanisms, which are related to the pathophysiology and the development of autoimmune thyroid diseases, involve transforming growth factor beta (TGF-β) and its interplay with the immune system. The aim of this review is to examine the role of TGF-β regarding thyroid autoimmunity and explore the potent role of this molecule either as a...
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In order to identify the molecular pathways governing melanoma and track its progression, the next-generation sequencing (NGS) approach and targeted sequencing of cancer genes were employed. The primary tumor, as well as metastatic tissue, of an 84-year-old patient diagnosed with vulvar melanoma (VM), were investigated. The primary tumor specimen s...
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Contribution of UCP1 single nucleotide polymorphisms (SNPs) to susceptibility for cardiometabolic pathologies (CMP) and their involvement in specific risk factors for these conditions varies across populations. We tested whether UCP1 SNPs A-3826G, A-1766G, Ala64Thr and A-112C are associated with common CMP and their risk factors across Armenia, Gre...
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The guidelines Thyroid Cancer 2022 are prepared based on previous Polish recommendations updated in 2018. They consider international guidelines - American Thyroid Association (ATA) 2015 and National Comprehensive Cancer Network (NCCN); however, they are adapted according to the ADAPTE process. The strength of the recommendations and the quality of...
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Purpose The role of nicotinamide phosphoribosyltransferase (NAMPT)/visfatin in a more aggressive course of many malignancies has been proven. Previous studies have noticed the importance of visfatin in thyroid neoplastic tissue, but the diagnostic and prognostic value of its serum concentration has not been investigated so far. Our study aimed to c...
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Numerous scientific societies around the world have published their TIRADS (Thyroid Imaging Reporting and Data System) classifications that evaluate the risk of malignancy of focal thyroid lesions, presenting different ultrasound features for each category and lesion size thresholds to determine eligibility for biopsy. The use of such risk estimati...
Article
Thyroid cancer is a tumour with a steadily increasing incidence. It accounts for 7% to 15% of focal lesions detected by ultrasound, depending on age, gender and other factors affecting its occurrence. Fine-needle aspiration biopsy is an essential method to establish the diagnosis but, in view of its limitations, sonoelastography is seen as a non-in...
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Nowadays obesity becomes a significant global problem. Hence, recently more and more attention has been paid to substances present in the body that have a significant impact on metabolic processes and thermogenesis, in the context of their potential use in the prevention and treatment of obesity. It is well known that the relationship between thyro...
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Signalling between the tissues integrating synthesis, transformation and utilization of energy substrates and their regulatory hormonal axes play a substantial role in the development of metabolic disorders. Interactions between cytokines, particularly liver derived hepatokines and adipokines, secreted from adipose tissue, constitute one of major a...
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Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis. The aim of the study was to reveal genetic factors responsible for thyroid maldevelopment in two siblings with THA. None of the family members presented with congenital heart defect. The samples were subjected to whole-exome sequencing (WES) (Il...
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Obesity is a chronic and complex disease associated with metabolic, organ and endocrine complications. In the study, we analyzed a group of 105 patients suffering from obesity without any other previously recognized serious disorders who had been referred to a single endocrine center. The study aimed to assess the prevalence of selected organ and e...
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Background: Polycystic ovary syndrome (PCOS) encompasses endocrine, reproductive and metabolic disturbances. Abdominal pain and bowel movement disturbances are common complaints of PCOS patients. It remains uncertain whether the characteristic features of PCOS are associated with an increased incidence of irritable bowel syndrome (IBS). Methods: 13...
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Thyroid nodular disease is one of the most frequent endocrine diseases [...]
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Obesity is a chronic disease that is associated with increased metabolic and cardiovascular risk, excessive morbidity and mortality worldwide. The authors of the present consensus, clinicians representing medical specialties related to the treatment of obesity and its complications, reviewed a number of European and American guidelines mostly publi...
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A previous case report described an adrenal incidentaloma initially misdiagnosed as adrenocortical carcinoma (ACC), which was treated with mitotane. The final diagnosis was metastatic melanoma of unknown primary origin. However, the patient developed rapid disease progression after mitotane withdrawal, suggesting a protective role for mitotane in a...
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Hepcidin is a protein responsible for maintaining iron (Fe) homeostasis. Data regarding the role of hepcidin in the pathomechanism of Fe balance disturbances associated with acromegaly (AG) are scarce. The aim of the study was to assess the impact of alterations in complete blood count parameters, Fe homeostasis, gonadal status and GH/IGF-1 on the...
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Background Insulin resistance (IR) is common in women with polycystic ovary syndrome (PCOS). Metabolic syndrome (MS) involves IR, arterial hypertension, dyslipidemia, and visceral fat accumulation. Therefore, fatness indices and blood lipid ratios can be considered as screening markers for MS. Our study aimed to evaluate the predictive potential of...
Article
Introduction: Tobacco smoke constitutes, among others, polycyclic aromatic hydrocarbons (PAHs) and heterocyclic analogs, aromatic amines, N-nitrosamines, volatile hydrocarbons, aldehydes, phenols, miscellaneous organic compounds, metals, and inorganic compounds Tobacco smoking can harm a women's reproductive system and may reduce fertility. The ob...
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Eating speed (ES) as a dietary behaviour has become a widely discussed factor for weight management and obesity. This study analysed the relationship between ES and anthropometric indicators of obesity, including BMI and waist circumference (WC) in adults. A search conducted of PubMed, Web of Science, Science Direct and Scopus found six longitudina...
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Iodine is an essential component for fetal neurodevelopment and maternal thyroid function. Urine iodine is the most widely used indicator of iodine status. In this study, a novel validated ion-pair HPLC–UV method was developed to measure iodine concentration in clinical samples. A sodium thiosulfate solution was added to the urine sample to convert...
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Introduction: Rathke cleft cysts (RCC) arise as developmental abnormalities of the pituitary gland and are usually diagnosed incidentally. However, they may present with headaches, visual impairment, or pituitary dysfunction. Rathke cleft cysts are poorly described in the Polish literature. We aimed to characterize presenting symptoms, associated...
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Appropriate care of pregnant women with coexisting thyroid dysfunction is still a subject of much controversy. In recent years, there has been a dynamic increase in the number of scientific reports on the diagnosis and treatment of thyroid diseases in women planning pregnancy, pregnant women, and women in the postpartum period. These mainly concern...
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Purpose Genetically predisposed individuals may develop several autoimmune diseases—autoimmune polyendocrine syndromes (APS). APS types 2–4, are complex disorders, which combine various organ-specific autoimmune conditions. Recent reports support the considerable role of the BACH2 gene in immune cell differentiation and shifting the T-cell balance...
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Thyroid diseases may cause a variety of functional and structural body changes, including eye and vision abnormalities, which can have a negative impact on a patient’s well-being. However, only a few studies on the impact of other benign thyroid diseases on the visual process are available in the literature. In this study, using the Polish version...
Article
Background: Pregnancy is a state of a higher iodine intake demand. Proper iodine status is important during pregnancy for fetal neurodevelopment and maternal thyroid function. Urinary iodine concentration (UIC) is the most common indicator of iodine status. Objectives: The aim of this study was to develop and validate a novel ion-pair HPLC-UV meth...
Article
Gaucher disease (GD) caused by mutation in the GBA gene has a wide spectrum of phenotypes. Besides the storage disorder, secondary alteration of various pathways occurs with modification of the expression of many genes. In our work we analysed the expression profile of genes in adult patients with type 1 GD. Methods: This study was an observation...
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Background Slipped capital femoral epiphysis (SCFE) is a hip disorder frequently occurring in adolescence. In adults it is rare and so far very few cases have been documented. Case presentation This report presents a 25-year-old patient diagnosed with an anterior fossa giant chondroma, hypogonadotropic hypogonadism, and SCFE. The patient underwent...
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Introduction: Patients with acromegaly have substantially reduced quality of life (QoL). This study evaluated QoL in patients with acromegaly treated with lanreotide autogel. Material and methods: This was a prospective, non-interventional, observational, multi-centre study conducted in Poland (NCT02396966). We included patients with acromegaly,...
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The COVID-19 pandemic has widely influenced oncological imaging mainly by presenting unexpected pulmonary and mediastinal lesions. The ongoing global program of vaccination has led to incidental diagnosis of axillary lymphadenopathy. We present a case of increased accumulation of ¹⁸ F-FDG in an axillary lymph node in a PET/CT scan performed in a 43...
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Objective: Chemicals that disrupt the endocrine homeostasis of the human body, otherwise known as endocrine disruptors (EDCs), are found in the blood, urine, amniotic fluid, or adipose tissue. This paper presents the current knowledge about EDCs and the reproductive system. Materials and methods: The article is an overview of the impact of EDCs...
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Visceral adipose tissue (VAT) accumulation, is a part of a polycystic ovary syndrome (PCOS) phenotype. Dual-energy x-ray absorptiometry (DXA) provides a gold standard measurement of VAT. This study aimed to compare ten different indirect methods of VAT estimation in PCOS women. The study included 154 PCOS and 68 age- and BMI-matched control women....
Article
Introduction: The biochemical diagnosis of neuroendocrine tumours (NETs) uses assays of specific and nonspecific markers. Nonspecific markers include, among others, neuron-specific enolase (NSE). The aim of this study was to evaluate NSE in patients with midgut type tumours treated with somatostatin analogues. Material and methods: The study gro...
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The paper summarizes the current knowledge about the influence of SARS-CoV-2 on the thyroid gland and benign thyroid diseases, with emphasis on the situation in Poland. Based on the latest scientific literature published up to May 1, 2021 and the PubMed, Google Scholar, EMBASE and Web of Science database searches, keywords related to SARS-CoV-2 and...
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The relationship between congenital defects of the brain and facial anomalies was proven. The Hedgehog signaling pathway plays a fundamental role in normal craniofacial development in humans. Mutations in the sonic hedgehog (SHH) signaling gene CDON have been recently reported in patients with holoprosencephaly and with pituitary stalk interruption...
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Background: Polycystic ovary syndrome (PCOS) is a multi-symptom disorder linked with a range of metabolic and hormonal disturbances. Psychological and sexual aspects of PCOS also need to be considered. Objective of the study: This study aimed to assess sexual satisfaction(SS) in PCOS patients and eumenorrheic controls (CON). The relationships betwe...
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Complete blood count is one of the most common diagnostic methods used in everyday practice. Hormonal status is known to affect blood count parameters. The aim of this study is to summarize changes in blood count that may indicate endocrine disorders, based on a literature review. Red cell parameters deteriorate in thyroid disorders including autoi...
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(1) Background: Isolated hypogonadotropic hypogonadism (IHH) is a genetic condition characterized by impaired puberty and fertility. IHH can significantly impact patient health-related quality of life (HRQoL), sexual satisfaction (SS) and mood. (2) Methods: Participants included 132 IHH subjects (89 men and 43 women) and 132 sex- and age-matched co...
Preprint
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The contribution of UCP1 single nucleotide polymorphisms (SNPs) to susceptibility for cardiometabolic pathologies (CMP) and their involvement in specific risk factors for these conditions varies across populations. We tested whether UCP1 SNPs A-3826G, A-1766G, Ala64Thr and A-112C are associated with the most common CMP (cardiovascular disease, hype...
Article
Full-text available
Immunoglobulin G4-related disease (IgG4-RD) is a chronic inflammatory disorder associated with fibrosis and abundant tissue lymphoplasmacytic infiltrations. It typically affects the pancreas, the salivary glands, and the retroperitoneal space. However, it might also involve multiple other organs, including the orbit and the thyroid. Recent studies...
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Kallmann syndrome (KS) is a combination of isolated hypogonadotropic hypogonadism (IHH) with olfactory dysfunction, representing a heterogeneous disorder with a broad phenotypic spectrum. The genetic background of KS has not yet been fully established. This study was conducted on 46 Polish KS subjects (41 males, 5 females; average age: 29 years old...
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Purpose Women with polycystic ovary syndrome (PCOS) present with or without biochemical hyperandrogenism (HAPCOS or non-HAPCOS, respectively). Cardiometabolic and hormonal abnormalities have been reported in women with PCOS, particularly those with hypertension. However, no direct comparison between normotensive (blood pressure <140/90 mmHg) patien...