[In]In-CP04 as a novel cholecystokinin-2 receptor ligand with theranostic potential in patients with progressive or metastatic medullary thyroid cancer: final results of a GRAN-T-MTC Phase I clinical trial.

Introduction: Medullary thyroid cancer (MTC) is a rare malignant tumour of the parafollicular C-cells with an unpredictable clinical course and currently suboptimal diagnostic and therapeutic options, in particular in advanced disease. Overexpression of cholecystokinin-2 receptors (CCK2R) represents a promising avenue to diagnostic imaging and targeted therapy, ideally through a theranostic approach.

Materials And Methods: A translational study (GRAN-T-MTC) conducted through a Phase I multicentre clinical trial of the indium-111 labelled CP04 ([In]In-CP04), a CCK2R-seeking ligand was initiated with the goal of developing a theranostic compound.

Prevalence of Selected Single-Nucleotide Variants in Patients with Neuroendocrine Tumors-Potential Clinical Relevance.

Introduction: The genetic basis of neuroendocrine tumors (NETs), whose incidence is continuously increasing, is still not fully defined. The majority of NETs are sporadic, and only a small percentage occur as part of hereditary genetic syndromes. However, the associations of multiple genetic variants have been found as clinically relevant in several neoplasms.

Adrenal bleeding due to pheochromocytoma - A call for algorithm.

Background: Adrenal hemorrhage is a rare, usually life-threating complication. The most common neoplasm resulting in spontaneous adrenal bleeding is pheochromocytoma and it accounts for nearly 50% of cases. Currently, the recommendations for the diagnosis and management of patients with adrenal bleeding due to pheochromocytoma are unavailable.

Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.

Purpose: The prevalence of CYP21A2 gene variants and genotype-phenotype correlations are variable among populations. The aim of this study was to characterize CYP21A2 gene variants in adult patients with classical congenital adrenal hyperplasia (CCAH) from southern Poland and to analyze genotype-phenotype correlations.

Materials/methods: A total of 48 patients (30 women and 18 men) with CCAH were included in the study.

Modifier Role of Common Variants in Sporadic Medullary Thyroid Carcinoma.

Although the disease-causing effect of pathogenic variants in the gene has been unambiguously identified, there is a lack of consensus regarding the possible impact of common variants in this gene. Our study aimed to test whether variants in exons 10, 11, and 13-16 that are commonly detected during routine diagnostic testing might have any modifying effect on MTC. In sporadic MTC patients with no pathogenic variants but with or without common variants in , the following variants were evaluated: rs1799939 (p.

Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg).

Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease with heterogeneous clinical manifestations. There are only a few reports of heterozygous activating mutations of glucokinase () attributable to FHH, with no reports describing effects in the course in pregnancy with affected mother/affected child. A large kindred with FHH and :c.

A rare case of aggressive, hereditary paraganglioma associated with a pathogenic variant in SDHD.

Not required for Clinical Vignette.

fT3:fT4 ratio in Graves' disease - correlation with TRAb level, goiter size and age of onset.

Introduction: Graves' Disease (GD) is an autoimmune hyperthyroidism occurring mostly in young women. The main pathogenic role of the disease is attributed to TSH receptor antibodies (TRAb), which stimulate the thyroid gland to increase production of the most active thyroid hormone- triiodothyronine (T3). High level of TRAb and a large goiter size are commonly known as poor prognostic factors for the disease and are used to predict relapse.

Ectopic ACTH syndrome of different origin-Diagnostic approach and clinical outcome. Experience of one Clinical Centre.

Purpose: Ectopic Cushing Syndrome (EAS) is a rare condition responsible for about 5-20% of all Cushing syndrome cases. It increases the mortality of affected patients thus finding and removal of the ACTH-producing source allows for curing or reduction of symptoms and serum cortisol levels. The aim of this study is to present a 20-year experience in the diagnosis and clinical course of patients with EAS in a single Clinical Centre in Southern Poland as well as a comparison of clinical course and outcomes depending on the source of ectopic ACTH production-especially neuroendocrine tumors with other neoplasms.

Coexistence of neurofibromatosis type 1 with multiple malignant neoplasia.

Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is inherited in autosomal dominant way genetic disorder, with an incidence at birth 1:3000. It is one of the most common congenital disorders. It is characterized by café-au-lait spots, neurofibromas, and less common MPTST and gliomas of the optic nerve.

[The relation between the low T3 syndrome in the clinical course of myocardial infarction and heart failure].

It has been proven that either excess or deficiency of thyroid hormones has harmful influence on the cardiovascular system function. On the other hand, severe systemic conditions like myocardial infarction or severe heart failure may affect thyroid hormones secretion and their peripheral conversion, leading to low T3 syndrome. Amongst many mechanisms causing T4 to T3 conversion disturbances, important role plays decreased activity of D1 deiodinase and increased activity of D3 deiodinase.

Current Approaches to the Diagnosis of Classical form of Congenital Adrenal Hyperplasia.

Congenital adrenal hyperplasia (CAH) is one of the most common diseases transmitted in an autosomal recessive manner and is caused by mutations of enzymes which are responsible for the process of adrenal steroidogenesis. According to the impairment of enzymes involved in steroidogenesis, several types of CAH can be distinguished. The most common type is associated with mutations in the CYP21A2 gene, encoding 21-hydroxylase enzyme and has different clinical forms: Classical (in which there are two types: salt wasting and simple virilization) and non-classical, characterized by less severe symptoms and late onset.

Noninsulinoma pancreatogenous hypoglycaemia in adults--a spotlight on its genetics.

Hyperinsulinaemic hypoglycaemia (HH) is also classically referred to as "nesidioblastosis". Heterogeneous clinical manifestation of the disease causes risk of late diagnosis or even misdiagnosis. In infants and children, it can lead to serious and permanent damage to the central nervous system, which leads to the manifesting mental retardation.

[Influence of selected endogenous and environmental factors on the course and complications of Grave's disease].

Unlabelled: Graves' disease (GD) is an autoimmune thyroid disease with complex and not fully established etiology. It occurs when environmental factors influence people genetically prone to this illness. The aim of this study was to determine the impact of selected factors (endogenous and environmental) on the course and complications of disease in patients with recurrent GD.

[Symptoms and early diagnostic possibilities of pancreatic endocrine cells hyperplasia (nesidioblastosis)].

Nesidioplastosis in adults is one of a rare causes of hyperinsulinemic hypoglycemia. Symptoms include chronic or recurrent hypoglycemias, often with neurological signs. Due to the looses of consciousness with coexisting seizures, in many cases patients are treated on epilepsy.

Are RECIST criteria sufficient to assess response to therapy in neuroendocrine tumors?

Material And Methods: Within the group of 47 patients treated with peptide receptor radionuclide therapy (PRRT), four patients were chosen: three with inoperable tumors without liver metastases and one with two lesions in the pancreas and metastases.

Results: In all patients, after PRRT, the changes in the sum of the longest diameters of tumors were between -1% and -21%, resulting in stable disease reported [strict Response Evaluation Criteria in Solid Tumors (RECIST)]. But the measurements of tumor volume and attenuation in computed tomography and the tumor to nontumor ratio in somatostatin receptor scintigraphy resulted in different response assessments.

Dietary patterns as risk factors of differentiated thyroid carcinoma.

Unlabelled: Nutritional factors are known to be important in the development of different metabolic diseases. The history of nodular or diffuse goiter is closely related to risk of thyroid carcinoma. On account of the function of the thyroid gland, many studies focus on iodine intake.

Can treatment using radiolabelled somatostatin analogue increase the survival rate in patients with non-functioning neuroendocrine pancreatic tumours?

Background: The aim of the study was to assess the effectiveness of peptide receptor radionuclide therapy (PRRT) in patients with non-functioning neuroendocrine pancreatic tumours (NFPNTs) and to compare survival rates in patients with NFPNTs and in patients with other neuroendocrine tumours (NETs) treated using radiolabelled somatostatin analogue in our Department. We would like to analyze factors potentially determining the effectiveness of the therapy and also to assess the myelo- and nephrotoxicity.

Material And Methods: Fourteen patients with disseminated disease and/or inoperable NFPNT were qualified to PRRT based on positive SRS (somatostatin receptor scintigraphy).

Positive family history of thyroid disease as a risk factor for differentiated thyroid carcinoma.

Introduction: Apart from the environmental risk factors for differentiated thyroid carcinoma (DTC), such as iodine deficiency and ionising radiation, it seems that there are also other, biological risk factors, for example, familial predisposition to thyroid disease.

Objectives: The aim of the study was to assess the occurrence of thyroid disease in the families of patients with DTC.

Patients And Methods: A case-control study was conducted in a group of 232 patients with DTC and in 342 age- and sex-matched healthy subjects.

Factors connected with the female sex seem to play an important role in differentiated thyroid cancer.

Aim: The aim of the study was to analyze whether female sex hormones and other factors connected with the female sex could increase the risk of differentiated thyroid cancer (DTC).

Material And Methods: Ninety-nine patients with a mean age ± SD of 40.5 ± 5.

Factors connected with the female sex seem to play an important role in differentiated thyroid cancer.

Aim: The aim of the study was to analyze whether female sex hormones and other factors connected with the female sex could increase the risk of differentiated thyroid cancer (DTC).

Material And Methods: Ninety-nine patients with a mean age±SD of 40.5±5.

Thyroid disorders-assessments of trace elements, clinical, and laboratory parameters.

The trace elements studied in this work (Se, Cu, Zn) are the essential constituents or cofactors required to activate numerous enzymes and proteins, playing crucial role in various physiological processes. The disturbed levels of abovementioned elements may adversely affect the endocrine system, resulting in various thyroid disorders among other upsets. The aim of this study was to investigate possible associations between them and parameters of redox balance, thyroid function indices as well as clinical records (duration of disease and therapy, lag time between thyroid surgery and this study examination, LT4 dosage) in patients with different thyroid disorders, including malignant diseases of the gland.