Are head and neck versus abdominal paragangliomas driven by different single nucleotide events?

Paragangliomas (PGLs) are a heterogeneous group of tumours of the nonepithelial neuroendocrine type, with a significant percentage being genetically determined. They can develop from cells of the parasympathetic as well as the sympathetic nervous system. Tumours located in the head and neck usually have a parasympathetic origin, whereas those in the abdomen have a sympathetic origin.

Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.

Gaucher disease (GD), the most common ultra-rare metabolic disorder, results from lipid accumulation. Systemic inflammation, cellular stress, and metabolic dysfunction may influence endocrine function, including the thyroid. This study evaluated thyroid function and morphology in 60 GD patients, alongside carbohydrate and lipid metabolism.

Comparison of models predicting efficacy of radioiodine therapy in patients with differentiated thyroid cancer.

Introduction: Differentiated thyroid cancer (DTC) is the most common endocrine malignancy, with incidence rising in recent decades. Despite a favorable prognosis, management remains complex, often involving thyroidectomy followed by radioactive iodine (RAI) therapy, with varying efficacy.

Objectives: We aimed to assess predictive models for RAI therapy efficacy in patients with DTC and to identify thyroid biomarker cutoff values.

Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.

Introduction And Objectives: Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of magnetic resonance imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.

Patients And Methods: The present research was a single-center retrospective case-control study.

Specific Deletions of Chromosomes 3p, 5q, 13q, and 21q among Patients with G2 Grade of Non-Small Cell Lung Cancer.

Non-small cell lung cancer (NSCLC) leads as a primary cause of cancer-related premature mortality in Western populations. This study leverages cutting-edge gene-expression-profiling technologies to perform an in-depth molecular characterization of NSCLC specimens, with the objective of uncovering tumor-specific genomic alterations. By employing DNA microarray analysis, our research aims to refine the classification of NSCLC for early detection, guide molecular-targeted treatment approaches, enhance prognostication, and broaden the scientific understanding of the disease's biology.

Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.

Introduction: Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and genetically heterogeneous disorder. Deleterious variants in over 50 genes have been implicated in the etiology of IHH, which also indicates a possible role of digenicity and oligogenicity. Both classes of genes controlling GnRH neuron migration/development and hypothalamic/pituitary signaling and development are strongly implicated in nIHH pathogenesis.

Genetic predisposition to differentiated thyroid cancer in the Polish population.

Introduction: Genome sequencing technologies reveal molecular mechanisms of differentiated thyroid cancer (DTC). Unlike somatic mutation analysis from thyroidectomy samples, germline mutations showing genetic susceptibility to DTC are less understood.

Objectives: The study aimed to assess the prevalence of germline mutations predisposing to DTC in a cohort of Polish individuals based on their whole genome sequencing data.

Serum Phosphorus and Calcium as Biomarkers of Disease Status in Acromegaly.

Acromegaly is a chronic disease caused by the hypersecretion of growth hormone (GH), leading to changes in the growth of visceral tissues and glucose impairment. Serum biomarkers that correlate with disease status are still unclear. This study aims to assess the potential of phosphorus and calcium as biomarkers in the clinical evaluation of patients with acromegaly and clarify their relationship with SAGIT and other common biomarkers.

Intake of Low Glycaemic Index Foods but Not Probiotics Is Associated with Atherosclerosis Risk in Women with Polycystic Ovary Syndrome.

Unlabelled: Women with polycystic ovary syndrome (PCOS) are at high cardiometabolic risk. The atherogenic index of plasma (AIP) strongly predicts atherosclerosis. Some studies suggest that probiotic intake may lower AIP.

The potential utility of the SAGIT instrument in the clinical assessment of patients with acromegaly, a large single-centre study.

SAGIT is an instrument created for the clinical assessment of acromegaly. Our objective was to test the usefulness of this tool in assessing disease activity of acromegalic patients in a single centre of Poznan, Poland using a retrospective study. Medical records of patients with acromegaly hospitalised at the Department of Endocrinology, Metabolism and Internal Medicine of Poznan University of Medical Sciences in Poland between January 2015 and December 2020 were analysed.

Follicular Thyroid Adenoma and Follicular Thyroid Carcinoma-A Common or Distinct Background? Loss of Heterozygosity in Comprehensive Microarray Study.

Pre- and postsurgical differentiation between follicular thyroid adenoma (FTA) and follicular thyroid cancer (FTC) represents a significant diagnostic challenge. Furthermore, it remains unclear whether they share a common or distinct background and what the mechanisms underlying follicular thyroid lesions malignancy are. The study aimed to compare FTA and FTC by the comprehensive microarray and to identify recurrent regions of loss of heterozygosity (LOH).

Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.

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 showed multiple somatic mutations in gene, suggesting its major contribution to melanoma origin.

Are patients with polycystic ovary syndrome more prone to irritable bowel syndrome?

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).

Lipid ratios and obesity indices are effective predictors of metabolic syndrome in women with polycystic ovary syndrome.

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.

Presenting symptoms and endocrine dysfunction in Rathke cleft cysts - a two-centre experience.

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.

Indirect Predictors of Visceral Adipose Tissue in Women with Polycystic Ovary Syndrome: A Comparison of Methods.

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.

Lower sexual satisfaction in women with polycystic ovary syndrome and metabolic syndrome.

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).

Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.

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).

Reduced Quality of Life and Sexual Satisfaction in Isolated Hypogonadotropic Hypogonadism.

(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 controls.

Is Preptin a New Bone Metabolism Parameter in Hemodialysis Patients?

Background: Preptin is a bone-anabolic pancreatic peptide hormone. Its role in bone metabolism has been studied in rats and in patients with diabetes, but its levels and significance in bone metabolism in hemodialyzed (HD) patients is unknown.

Methods: The relationships between preptin and anthropometric and biochemical parameters related to bone metabolism were studied in 73 patients on chronic hemodialysis (48 males, 25 females; mean age of 57 years; HD vintage of 69.

Cardiovascular, anthropometric, metabolic and hormonal profiling of normotensive women with polycystic ovary syndrome with and without biochemical hyperandrogenism.

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) patients with HAPCOS and non-HAPCOS has been made.

Thyroid gland dysfunction and its effect on the cardiovascular system: a comprehensive review of the literature.

There is an intimate and functional relationship between the cardiovascular system and the thyroid gland; from sharing the same embryologic origin to modulating each of the components of the heart for a normal function. Due to this relationship, patients suffering from cardiovascular diseases often undergo a thyroid function test to rule out hypo- or hyperthyroidism. The signs and symptoms of hyper- and hypothyroidism are clinically relevant and profound.