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. PATIENTS AND METHODS: We analyzed sequencing data from 1076 unrelated individuals totaling over 1018 billion read pairs and yielding an average 35.26 × read depth per genome, released openly for academic and clinical research as the Thousand Polish Genomes database (https://1000polishgenomes.com). The list of genes chosen for further analysis was based on the review of previous studies. RESULTS: The cohort contained 104 variants located within the coding and noncoding DNA sequences of 90 genes selected by ClinVar classification as pathogenic and potentially pathogenic. The frequency of variants in the Polish cohort was compared with the frequency estimated for the non­Finnish European population obtained from the gnomAD database (gnomad.broadinstitute.org). Significant differences in variant frequency were found for the APC, ARSB, ATM, BRCA1, CHEK2, DICER1, GPD1L, INSR, KCNJ10, MYH9, PALB2, PLCB1, PLEKHG5, PTEN, RET, SEC23B, SERPINA1, SLC26A4, SMAD3, STK11, TERT, TOE1, and WRN genes. CONCLUSIONS: Even though the Polish population is genetically similar to the other European populations, there are significant differences in variant frequencies contributing to the disease development and progression, such as those in the RET, CHEK2, BRCA1, SLC26A4, or TERT genes. Further studies are needed to identify genomic variants associated directly with DTC.

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. We retrospectively analyzed data from 306 medical records of patients with acromegaly hospitalized between 2015 and 2020. Factors such as patient biometrics, duration of disease, SAGIT score, tumor size, GH, insulin-like growth factor 1 (IGF-1), calcium, phosphorus, parathormone, and vitamin D were analyzed concerning current disease status (naïve, non-remission, remission). The results showed that serum phosphorus significantly correlated with IGF-1 and SAGIT scores for patients with active acromegaly. Specifically, the best predictor for the remission of acromegaly was a phosphorus level < 3.98 mg/dL and serum calcium levels < 9.88 mg/dL. Based on logistic regression, the higher the serum phosphorus level, the lower the odds of achieving remission (an increase in one unit leads to a decrease in the chance of about 80%). In conclusion, phosphorus and calcium can be effective biochemical markers for predicting disease status in acromegaly.

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

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. This study analysed the relationship between the frequency of dietary intake of low glycaemic index (prebiotic) and probiotic foods and atherosclerosis risk in women with PCOS. METHODS: A total of 127 women were divided into two groups: AIP over 0.11 (highAIP) and AIP ≤ 0.11 (lowAIP). The KomPAN® questionnaire was used to measure food frequency intake; pro-healthy, non-healthy, low glycaemic and probiotic dietary indexes were calculated based on daily food consumption. Body composition was measured by air displacement plethysmography (BodPod). AIP was calculated as a logarithm of triglycerides and high-density lipoproteins from plasma. RESULTS: The highAIP group was 63% less likely to consume low glycaemic index foods three or more times a day than the lowAIP group. The HighAIP group was also 62% less likely to consume buckwheat, oats, whole-grain pasta or coarse-ground grains at least a few times a week. Pro-healthy foods tended to be less frequently consumed by the highAIP group, when adjusted for BMI and age. CONCLUSION: Women with PCOS at high risk of atherosclerosis consumed less low glycaemic index foods than women with a low risk of atherosclerosis. Intake of high-fibre, low glycaemic index foods could prevent atherosclerosis in women with PCOS; however, the effect of probiotic food intake remains unclear.

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). We analyzed formalin-fixed paraffin-embedded (FFPE) samples acquired from 32 Caucasian patients diagnosed with FTA (16) and FTC (16). We used the OncoScan™ microarray assay (Affymetrix, USA), using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP). The total number of LOH was higher in FTC compared with FTA (18 vs. 15). The most common LOH present in 21 cases, in both FTA (10 cases) and FTC (11 cases), was 16p12.1, which encompasses many cancer-related genes, such as TP53, and was followed by 3p21.31. The only LOH present exclusively in FTA patients (56% vs. 0%) was 11p11.2-p11.12. The alteration which tended to be detected more often in FTC (6 vs. 1 in FTA) was 12q24.11-q24.13 overlapping FOXN4, MYL2, PTPN11 genes. FTA and FTC may share a common genetic background, even though differentiating rearrangements may also be detected.

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. SAGIT scores were assessed according to each patient's clinical and biochemical data. The results show that SAGIT scores were higher in treatment-naïve patients and the lowest in controlled patients. There were positive correlations between SAGIT scores and concentrations of calcium, phosphorus, HbA1C levels, and tumour invasiveness at the time of diagnosis. However, parameters such as age, vitamin D concentration, and time from diagnosis showed an inverse relationship with the SAGIT score. In ROC curve analysis, SAGIT scores of 5 or less discriminated controlled patients from uncontrolled (p < 0.0001, sensitivity 76.7%, specificity 78.5%, AUC 0.867). Also, SAGIT higher than 6 indicated for treatment start or escalation (p < 0.0001, sensitivity 80.88%, specificity 77.59%, AUC 0.866). Lack of signs and symptoms (S = 0) could not discriminate between controlled and uncontrolled disease, but predicted therapy maintenance (p < 0.0004, sensitivity 59.5%, specificity 58.2%, AUC 0.604). In conclusion, The SAGIT instrument is easy to use even when completed in the retrospective medical record review. It can be useful for distinguishing clinical stages of acromegaly and in decision-making.

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 TP53 gene, suggesting its major contribution to melanoma origin. The metastatic sample showed additional alterations, including other melanoma-related genes. Clinical relevancy is postulated to juxtamembrane region instability of KIT gene (c-KIT). We did not identify BRAF or NRAS alterations, which are typical for the most common melanoma pathway-MAPK cascade. However, it should be noted that this is the first report evidencing PDGFRA in melanoma, although its role in triggering VM needs to be further elucidated.

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). Methods: In the study, 133 patients with PCOS diagnosed according to international evidence-based guidelines and 72 age- and BMI-matched eumenorrheic controls were enrolled. Anthropometric measurements and biochemical and hormonal characteristics were collected. The Rome IV criteria were used for IBS diagnosis. Quality of life (QoL) and depressive symptoms were also assessed. Results: IBS symptom prevalence in PCOS was not significantly different than in controls. Hyperandrogenism and simple and visceral obesity did not appear to affect IBS prevalence in PCOS. There were no anthropometric, hormonal or biochemical differences between IBS-PCOS and non-IBS-PCOS patients, apart from IBS-PCOS patients being slightly older and having lower thyroid-stimulating hormone. Metabolic syndrome (MS) prevalence was higher in IBS-PCOS than non-IBS-PCOS. QoL appears to be significantly lower in IBS-PCOS compared to PCOS-only patients. The occurrence of depression was higher in IBS-PCOS vs non-IBS-PCOS patients. At least one alarm symptom was reported by 87.5% of IBS-PCOS; overall, this group experienced more alarm symptoms than the IBS-only group. Conclusions: Since a link between PCOS and IBS comorbidity and increased MS prevalence was noted, patients presenting with both conditions may benefit from early MS diagnostics and management. The high incidence of alarm symptoms in PCOS women in this study highlights the need for differential diagnosis of organic diseases that could mimic IBS symptoms.

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. Our study aimed to evaluate the predictive potential of selected indirect metabolic risk parameters to identify MS in PCOS. METHODS: This cross-sectional study involved 596 women aged 18-40 years, including 404 PCOS patients diagnosed according to the Rotterdam criteria and 192 eumenorrheic controls (CON). Anthropometric and blood pressure measurements were taken, and blood samples were collected to assess glucose metabolism, lipid parameters, and selected hormone levels. Body mass index (BMI), waist-to-height ratio (WHtR), homeostasis model assessment for insulin resistance index (HOMA-IR), visceral adiposity index (VAI), lipid accumulation product (LAP), non-high-density lipoprotein cholesterol (non-HDL-C), and triglycerides-to-HDL cholesterol ratio (TG/HDL-C) were calculated. MS was assessed using the International Diabetes Federation (IDF) and the American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI) criteria. RESULTS: MS prevalence was significantly higher in PCOS versus CON. Patients with both MS and PCOS had more unfavorable anthropometric, hormonal, and metabolic profiles versus those with neither MS nor PCOS and versus CON with MS. LAP, TG/HDL-C, VAI, and WHtR were the best markers and strongest indicators of MS in PCOS, and their cut-off values could be useful for early MS detection. MS risk in PCOS increased with elevated levels of these markers and was the highest when TG/HDL-C was used. CONCLUSIONS: LAP, TG/HDL-C, VAI, and WHtR are representative markers for MS assessment in PCOS. Their predictive power makes them excellent screening tools for internists and enables acquiring accurate diagnoses using fewer MS markers.

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. We aimed to characterize presenting symptoms, associated endocrine dysfunction, and concomitant disorders in the Polish population of patients with RCC. MATERIAL AND METHODS: We performed a retrospective analysis of medical records of 102 patients diagnosed with RCC between 2006 and 2021 at Heliodor Swiecicki Clinical Hospital in Poznan and Independent Public Clinical Hospital No. 4 in Lublin. RESULTS: The cohort was 72% female, with a mean age of 43 years. The median maximal cyst diameter was 7 mm. The majority of subjects were overweight or obese and presented lipid profile or glucose disturbances. Common presenting symptoms included headache, vertigo, and visual impairment. Less frequently we observed sexual dysfunction, irregular menses, galactorrhoea, or fatigue. Hormonal abnormalities were identified in 30% of patients, with hyperprolactinaemia being the commonest endocrinopathy (23%). Pituitary function in patients with RCC did not correlate with cyst size. Both concomitant pituitary adenomas and pineal cysts were diagnosed in 3% of patients. A considerable proportion of subjects were diagnosed with Hashimoto's thyroiditis and multinodular goitre. CONCLUSIONS: RCCs occur mostly in females and may result in a variety of symptoms and hormonal dysfunction. Patients require a full clinical and endocrine evaluation regardless of the cyst diameter. We report a substantial co-occurrence of RCC and metabolic disorders and primary thyroid diseases, which requires further investigation.

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. The study included 154 PCOS and 68 age- and BMI-matched control women. Subjects were divided into age groups: 18-30 y.o. and 30-40 y.o. Analysis included: body mass index (BMI), waist circumference (WC), waist-to-hip ratio (WHR), waist-to-height ratio (WHtR), waist/height 0.5 (WHT.5R), visceral adipose index (VAI), lipid accumulation product (LAP), and fat mass index (FMI). VAT accumulation, android-to-gynoid ratio (A/G), and total body fat (TBF) was measured by DXA. ROC analysis revealed that WHtR, WHT.5R, WC, BMI, and LAP demonstrated the highest predictive value in identifying VAT in the PCOS group. Lower cut-off values of BMI (23.43 kg/m2) and WHtR (0.45) were determined in the younger PCOS group and higher thresholds of WHtR (0.52) in the older PCOS group than commonly used. Measuring either: WHtR, WHT.5R, WC, BMI, or LAP, could help identify a subgroup of PCOS patients at high cardiometabolic risk. The current observations reinforce the importance of using special cut-offs to identify VAT, dependent on age and PCOS presence.

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). The studied KS patients were screened for defects in a 38-gene panel with next-generation sequencing (NGS) technology. The analysis revealed 27 pathogenic and likely pathogenic (P/LP) variants, and 21 variants of uncertain significance (VUS). The P/LP variants were detected in 20 patients (43.5%). The prevalence of oligogenic P/LP defects in selected genes among KS patients was 26% (12/46), whereas the co-occurrence of other variants was detected in 43% (20 probands). The examined KS patients showed substantial genotypic and phenotypic variability. A marked difference in non-reproductive phenotypes, involving defects in genes responsible for GnRH neuron development/migration and genes contributing to pituitary development and signaling, was observed. A comprehensive gene panel for IHH testing enabled the detection of clinically relevant variants in the majority of KS patients, which makes targeted NGS an effective molecular tool. The significance of oligogenicity and the high incidence of alterations in selected genes should be further elucidated.

CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy.

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 syndrome (PSIS). This study's aim was an elucidation of an 18-year-old patient presenting PSIS, multiple pituitary hormone deficiency, and congenital unilateral facial and abducens nerve palsy. Additionally, bilateral sensorineural hearing loss, dominating at the right site, was diagnosed. From the second year of life, growth deceleration was observed, and from the age of eight, anterior pituitary hormone deficiencies were gradually confirmed and substituted. At the MRI, characteristic triad for PSIS (anterior pituitary hypoplasia, interrupted pituitary stalk and ectopic posterior lobe) was diagnosed. We performed a comprehensive genomic screening, including microarrays for structural rearrangements and whole-exome sequencing for a monogenic defect. A novel heterozygous missense variant in the CDON gene (c.1814G > T; p.Gly605Val) was identified. The variant was inherited from the mother, who, besides short stature, did not show any disease symptoms. The variant was absent in control databases and 100 healthy subjects originating from the same population. We report a novel variant in the CDON gene associated with PSIS and congenital cranial nerve palsy. The variant revealed autosomal dominant inheritance with incomplete penetrance in concordance with previous studies reporting CDON defects.

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). The relationships between SS, depressive symptoms, health-related quality of life (HRQoL), and hormonal and metabolic profiles were evaluated. METHODS: In this study, 190 patients with PCOS (mean age 26.34 ± 5.47 years) and 197 age-matched CON (mean age 27.12 ± 4.97 years) were enrolled. All subjects completed Polish version of the Sexual Satisfaction Questionnaire (SSQ), WHO Quality of Life-BREF (WHOQOL-BREF), and the Center for Epidemiologic Studies Depression Scale-Revised (CESD-R) questionnaire. Fasting blood samples were collected to assess hormonal, lipid, and glucose profiles. Anthropometric measures were collected. Metabolic syndrome (MS) was evaluated according to the IDF-AHA/NHLBI criteria. RESULTS: Patients with PCOS and MS had lower SS vs non-MS-PCOS. There were no significant differences in the level of SS, presence of depressive symptoms, or HRQoL between PCOS and CON (P > 0.05). Negative correlations were found between the SS level and BMI, waist circumference, and waist-to-height ratio in PCOS women. However, overweight or obese PCOS women did not differ in SS levels vs normal-weight PCOS patients. The social dimension of WHOQOL-BREF was the only significant predictor of SS in PCOS patients. CONCLUSIONS: SS in PCOS women appears to be undisturbed. However, MS in PCOS patients could negatively influence SS. The level of SS should be assessed in PCOS women, especially if MS is present.

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. HRQoL, depressive symptoms, erectile dysfunction (ED), and SS were assessed in an online survey using the Zung Self-Rating Depression Scale (SDS), 15D instrument of HRQoL (15D), Sexual Satisfaction Questionnaire (SSQ), and 5-item International Index of Erectile Function (IIEF-5). (3) Results: QoL and SS were significantly lower in the IHH group vs. controls. There was a high rate of ED (53.2% vs. 33%, p = 0.008) and depressive symptoms (45.00 ± 17.00 vs. 32.00 ± 12.00, p < 0.001) in patients vs. controls. The age of patients at IHH diagnosis inversely correlated with their overall 15D scores. An alarming non-compliance rate was seen (51.6%). No differences were found between scores of patients receiving hormone replacement therapy (HRT) and untreated subjects in any of the scales. (4) Conclusions: The HRQoL, SS, ED, and depression levels observed in IHH patients, despite HRT, are alarming. Late IHH diagnosis may have a particularly negative impact on HRQoL. More attention should be devoted to HRT adherence and various HRQoL aspects of IHH patients.

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 69.7 months). Of these subjects, 36 patients had diabetes or impaired glucose tolerance (DM/IGT), and 37 patients had normal glucose tolerance (NGT). Dual-energy X-ray absorptiometry of the femoral neck and lumbar spine were also performed. RESULTS: No differences were observed in preptin levels between DM/IGT and NGT HD patients. Preptin was positively correlated with HD vintage (r = 0.312, p = 0.007). Negative correlations between preptin and bone mineral density (BMD), T-score, and Z-score in the lumbar spine (L2-L4) were observed (r = -0.319, p = 0.009; r = -0.341, p = 0.005; r = -0.375, p = 0.002). Preptin was positively correlated with parathormone (PTH) levels (r = 0.379, p < 0.001) and osteocalcin levels (r = 0.262, p = 0.027). CONCLUSIONS: The results indicate that preptin may reflect on bone and mineral metabolism disturbances seen in HD patients. The significant correlation of preptin with PTH and osteocalcin suggests that preptin may be important in indirect measurement of bone turnover in HD patients.

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. This study compared different cardiovascular (CV), anthropometric, metabolic and hormonal features between normotensive patients with HAPCOS and non-HAPCOS and healthy women. METHODS: We consecutively recruited 249 normotensive patients with PCOS and 85 healthy eumenorrheic women to a case-control observational study. Based on blood androgen concentration, patients with PCOS were divided into HAPCOS (n = 69) or non-HAPCOS (n = 180) groups. RESULTS: Although within normal ranges, patients with HAPCOS had significantly (p < 0.05) higher peripheral and central systolic blood pressure and pulse pressure, C-reactive protein, low-density lipoprotein cholesterol, triglycerides, glucose, and insulin than subjects with non-HAPCOS, and healthy women. They also had lower N-terminal prohormone of B-type natriuretic peptide (NT-proBNP) concentration. In contrast, their body mass index (BMI) was higher of over 4 kg/m2 than patients with non-HAPCOS and nearly 6 kg/m2 than in healthy participants. Except for BMI, statistical differences in the cardiometabolic profile were of little clinical relevance. CONCLUSIONS: Young normotensive women with HAPCOS have a worse cardiometabolic profile but lower NT-proBNP concentration than patients with non-HAPCOS. Features of this profile in both PCOS groups are within ranges typical for healthy women. Increased BMI is the only clinically relevant feature differentiating hyperandrogenic from non-hyperandrogenic patients with PCOS, and healthy women.

Diet quality scores in relation to fatness and nutritional knowledge in women with polycystic ovary syndrome: case-control study.

OBJECTIVE: The purpose of the study was to analyse the dietary habits identified by diet quality scores (DQS) in the scope of body fatness (BF) and nutritional knowledge (NK) of polycystic ovary syndrome (PCOS) women. DESIGN: Case-control study. The DQS were accessed by Dietary Habits, and Nutrition Beliefs Questionnaire (KomPAN, The Committee of Human Nutrition, Polish Academy of Science) included food frequency consumption of thirty-three food items and was formulated by six diet indexes: Pro-Healthy-Diet-Index (pHDI-10), Non-Healthy-Diet-Index (nHDI-14), High-Glycemic-Diet-Index-7 (hGIDI-7), Low-Glycemic-Diet-Index-4 (lGIDI-4), High-Sugar-Diet-Index-4 (hSDI-4) and High-Saturated-Fats-Diet-Index-8 (hSFDI-8). The BF was analysed by air displacement plethysmography (BodPod, Life Measurement Inc.). NK was assessed by using the twenty-five 'true or false' statements included in the KomPAN questionnaire. SETTING: Poland, Clinical Hospital, Department of Endocrinology, Metabolism, and Internal Diseases. PARTICIPANTS: The study group included 122 PCOS women and 116 age- and socio-economic status-matched healthy controls (CON) aged 17-44 years. RESULTS: Higher BF and lower NK in PCOS women v. controls were observed. PCOS women had a lower pHDI-10 and LGIDI-4 than CON. There was no relation between NK and DQS in PCOS women. The higher NK in the CON group was associated with increased intensity of pHDI-10 and lower frequency of hSFDI-8 levels. CONCLUSIONS: Pro-healthy DQS and NK of PCOS women in this study were lower than CON. Professional dietary education might improve dietary behaviours and understanding of the necessity of dietary habits modification in this group. A multidisciplinary approach is needed in the treatment of PCOS women.

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. The cardiac function changes can be explained through the cellular mechanism of the thyroid hormone action on the heart. Minor alteration of thyroid hormone can change vascular resistance, cardiac contractility, blood pressure, and heart rhythm, because of the presence of the thyroid hormone receptors on these tissues. A better understanding of the impact of thyroid hormones on the cardiovascular system is paramount for physicians to make a quick decision and initiate a treatment plan because it has been shown to reverse some of the cardiac changes such as systolic and diastolic dysfunction. With this literature review, we aim to describe the holistic effect of thyroid hormones on the cardiovascular system, from its effect on a cellular level to changes in cardiac functions in subclinical and overt hypo/hyperthyroidism. Additionally, we will describe the effects of the drug treatment regimen of thyroid on the cardiac function.

Head and Neck Paragangliomas-A Genetic Overview.

Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. Head and neck paragangliomas (HNPGL) can be categorized into carotid body tumors, which are the most common, as well as jugular, tympanic, and vagal paraganglioma. A review of the current literature was conducted to consolidate knowledge concerning PGL mutations, familial occurrence, and the practical application of this information. Available scientific databases were searched using the keywords head and neck paraganglioma and genetics, and 274 articles in PubMed and 1183 in ScienceDirect were found. From these articles, those concerning genetic changes in HNPGLs were selected. The aim of this review is to describe the known genetic changes and their practical applications. We found that the etiology of the tumors in question is based on genetic changes in the form of either germinal or somatic mutations. 40% of PCC and PGL have a predisposing germline mutation (including VHL, SDHB, SDHD, RET, NF1, THEM127, MAX, SDHC, SDHA, SDHAF2, HIF2A, HRAS, KIF1B, PHD2, and FH). Approximately 25-30% of cases are due to somatic mutations, such as RET, VHL, NF1, MAX, and HIF2A. The tumors were divided into three main clusters by the Cancer Genome Atlas (TCGA); namely, the pseudohypoxia group, the Wnt signaling group, and the kinase signaling group. The review also discusses genetic syndromes, epigenetic changes, and new testing technologies such as next-generation sequencing (NGS).