Publications by authors named "Marek Ruchała"

282 Publications

Selected thyreology problems during the COVID-19 pandemic. Hypothyroidism and hyperthyroidism - did anything change?

Endokrynol Pol 2021 ;72(2):170-178

Chair and Department of Endocrinology, Metabolism, and Internal Medicine, University of Medical Sciences, Poznan, Poland.

On March 11, 2020, the World Health Organisation (WHO) observed the scale of epidemic risk and declared the state of the COVID-19 pandemic. Most countries, including Poland, implemented national and local emergency management plans to deal with the imminent threat of SARS-CoV-2 infection, one of the most serious in this century, according to many experts. In the era of pandemic, during which an epidemiological regime and social distancing are constantly recommended, and routine medical care and planned surgical procedures have been postponed or significantly reduced, patients and their physicians have to struggle on a daily basis with difficult access to diagnostic and therapeutic procedures. This is a great challenge for both groups. The aim of this study is to assess the current state of knowledge about thyreological diseases during the COVID-19 pandemic and to provide indications for the introduced therapeutic changes on the basis of recent scientific literature published up to December 2020 and searches of the PubMed, Google Scholar, EMBASE, and Web of Science databases, which searched for keywords related to SARS-CoV-2 and its influence on thyreology problems. The main focus was on diagnostic and therapeutic differences in the era of the COVID-19 pandemic, bearing in mind the most common endocrinopathies, i.e. hypothyroidism and hyperthyroidism, as well as advantages and disadvantages and possibilities of using telemedicine in the common practice of a specialist physician.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5603/EP.a2021.0013DOI Listing
January 2021

The rationale for selenium supplementation in patients with autoimmune thyroiditis, according to the current state of knowledge.

Endokrynol Pol 2021 ;72(2):153-162

Department of Endocrinology, Metabolism, and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.

Selenium (Se) supplements are commonly prescribed to autoimmune thyroiditis (AIT) patients by European endocrinologists, despite the lack of official guidelines. The majority of Europe is depleted of natural Se sources, and the daily population intake does not comply with recommended values. Optimal individual plasma Se concentration is reached when the selenoproteins (selenoprotein P, glutathione peroxidase) are fully saturated. However, Se intake has to be regulated because both Se shortage and overdose negatively impact health. In the case of AIT, Se may alleviate symptoms or prevent progression to hypothyroidism and postpartum hypothyroidism. Se supplementation in euthyroid, subclinical, or overt hypothyroid AIT patients decreased thyroid autoantibodies, lowered or maintained the TSH level, decreased the fT4/fT3 ratio, reduced the body's oxidative stress and inflammatory status, and amended quality of life and thyroid ultrasound structure and volume. In pregnant females, adequate Se intake protected them against miscarriages, preeclampsia/hypertension, preterm birth, small-for-gestational-age infants' birth, and improved child's neuropsychological development. In the elderly population, adequate Se supplementation decreased cardiovascular diseases and hypertension risk, but prolonged intake of excessive doses increased the all-cause mortality rate. Routine Se supplementation implementation requires from researchers and clinicians consideration of specific populational differences in natural Se and iodine supply, the patient's clinical situation (supplementation simultaneously or before levothyroxine treatment, AIT/non-AIT hypothyroidism), individual response to supplementation (Se and selenoprotein P assessment), predisposition (genetic testing), the status of other trace elements, and the interplay between those micronutrients. Moreover, the safety of commercially available Se formulations, doses, and duration of treatment should be determined. Proper guidelines are warranted to standardise the medical approach to Se supplementation. This article presents a comprehensive review of recent randomised-controlled trials, meta-analyses, and clinical trials concerning the risks and benefits of Se supplementation in different clinical settings and specific populations with particular emphasis on AIT in a practical manner.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5603/EP.a2021.0017DOI Listing
January 2021

Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity.

Endocrine 2021 May 8. Epub 2021 May 8.

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.

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 towards regulatory T-cells. BACH2 polymorphisms are associated with autoimmune disorders, including Addison's disease (AD), Graves' disease (GD), and probably type 1 diabetes (T1D). Our study was aimed to investigate the BACH2 variant, rs3757247, in endocrine autoimmunity in the Polish population.

Methods: The analysis comprised 346 individuals with APS, 387 with T1D only, and 568 controls. Genotyping was performed using TaqMan chemistry.

Results: APS type 2 was found in 219 individuals, type 3 in 102, and type 4 in 25 subjects. Overall, AD was diagnosed in 244 subjects, Hashimoto's thyroiditis-in 238, T1D-in 127, GD-in 58, vitiligo and chronic gastritis each in 40 patients, celiac disease-in 28, premature menopause in 18, and alopecia in 4 patients. Minor T allele at rs3757247 was found in 56.4% APS vs. 44.1% control alleles (OR 1.59; 95%CI: 1.30-1.95, p < 0.0001). The distribution of genotypes revealed excess TT homozygotes in the APS cohort (33.2 vs. 20.1% in controls, p < 0.0001). The frequencies of rs3757247 alleles and genotypes in T1D patients did not present significant differences vs. controls (p-values > 0.05).

Conclusions: These results provide evidence of the association between BACH2 polymorphism and polyglandular autoimmunity. Since carriers of rs3757247 display increased risk for additional autoimmune conditions, this variant could identify individuals prone to develop APS.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12020-021-02743-9DOI Listing
May 2021

Overexpression of miR-7977 in CD4+ T cells is associated with multiplex autoimmunity in patients with Addison's disease.

Eur J Endocrinol 2021 May 1. Epub 2021 May 1.

M Ruchala, Department of Endocrinology, Metabolism and Internal Medicine, University of Medical Sciences, Poznan, 60-355, Poland.

Objective: Autoimmune Addison's disease (AD) results from a combination of the genetic predisposition, unclear environmental triggers and ensuing immune dysfunction. MicroRNA molecules (miRNAs) are involved in post-transcriptional regulation of numerous target genes, hence may affect the immune function and promote autoimmunity. A deregulated miRNAs profile was reported in several autoimmune conditions. Our study was aimed at a global analysis of miRNA expression in CD4+ T cells from patients with AD.

Methods: CD4+ T cells were separated from peripheral blood, total RNA enriched in miRNAs extracted, and microRNAs expression determined by Small RNA Sequencing. Global miRNA was investigated in 11 AD subjects and 9 age-matched healthy controls, with subsequent validation of the differentially expressed miRNAs by reverse-transcription quantitative real-time PCR (RT-qPCR) in 29 patients and 28 controls.

Results: The analysis revealed upregulation of 9 miRNAs and downregulation of miR-509-3p in CD4+ T cells from patients with AD (cut-off fold change (FC) >2, Benjamini-Hochberg p <0.05). RT-qPCR validation confirmed overexpression of miR-7977 (p<0.0001, FC= 2.7), miR-374a-5p and miR-1260b (p<0.05, FC=1.3 and 1.2 respectively). miR-7977 was upregulated in patients with coexisting autoimmune conditions vs. those with isolated AD (p=0.005, mean FC=2.2). Moreover, miR-7977 abundance appeared correlated with the number of autoimmune comorbidities (p<0.0001, r=0.736) and serum autoantibodies against thyroid peroxidase (p<0.001, r=0.588).

Conclusions: Our study demonstrates upregulated expression of miR-7977 in CD4+ T cells from patients with AD, especially with its polyendocrine form. Further analyses are warranted to replicate our results, establish marker utility of miR-7977, and elucidate its functional role in autoimmunity.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-21-0007DOI Listing
May 2021

Aggregation of autoimmunity in extended families of people with autoimmune Addison's disease.

Intern Med J 2021 May 5. Epub 2021 May 5.

Department of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, 49 Przybyszewskiego, 60-355, Poznań, Poland.

Background: Autoimmunity accounts for 90% of cases of primary adrenal insufficiency (Addison's disease, AD). Affected persons present a significant co-occurrence of autoimmune conditions, hence, clustering of autoimmunity is also predicted among their relatives.

Aims: The aim of our study was to evaluate the burden of autoimmunity in families of people with AD.

Methods: 116 individuals with AD were surveyed about the occurrence of 23 autoimmune diseases among their relatives.

Results: 74.1% of persons with AD reported at least one relative with an autoimmune disorder - 257 cases were diagnosed in 221 relatives. Hashimoto's thyroiditis was found in 100 individuals, followed by Graves' disease and vitiligo - in 25 and 24 relatives, respectively. Type 1 diabetes was diagnosed in 23 relatives, psoriasis in 15, rheumatoid arthritis in 12, pernicious anaemia in 11, multiple sclerosis in 8, while premature menopause in 8 women. AD was found in 7 relatives, alopecia in 6, and celiac disease in 5. Other conditions were rare. Significant correlation was noticed between the number of autoimmune conditions in AD proband and the number of affected relatives (p = 0.031). 66.4% of people with AD had a first-degree relative suffering from autoimmunity. Autoimmune conditions were more frequent among females: sisters (p < 0.001), mothers (p = 0.002) and grandmothers (p = 0.002).

Conclusions: Considerable prevalence of autoimmune conditions in relatives of persons with AD confirms substantial risk of autoimmunity, especially in females and relatives of patients affected by multiplex autoimmunity. Our data corroborate the recommendation of active screening for autoimmune disorders, particularly thyroid disease, among AD family members. This article is protected by copyright. All rights reserved.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/imj.15337DOI Listing
May 2021

Is Preptin a New Bone Metabolism Parameter in Hemodialysis Patients?

Life (Basel) 2021 Apr 12;11(4). Epub 2021 Apr 12.

Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 60-355 Poznań, Poland.

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, = 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, = 0.009; r = -0.341, = 0.005; r = -0.375, = 0.002). Preptin was positively correlated with parathormone (PTH) levels (r = 0.379, < 0.001) and osteocalcin levels (r = 0.262, = 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.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/life11040341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8069327PMC
April 2021

Is low radioiodine uptake a contraindication to radioiodine therapy in patients with benign thyroid disease?

Adv Clin Exp Med 2021 Apr;30(4):369-378

Department of Nuclear Medicine, Warsaw Medical University, Poland.

Background: Radioiodine therapy (131I) is a standard procedure in the treatment of hyperthyroidism in the course of Graves' disease or toxic nodules. However, the use of 131I in patients with low radioiodine uptake (RAIU) may be controversial.

Objectives: To determine the influence of lithium carbonate (Li) on iodine kinetics.

Material And Methods: Patients with hyperthyroidism and low RAIU (< 30%) were divided into 2 groups: a Li(-) group of 305 patients not receiving Li adjuvant therapy and a Li(+) group of 264 patients receiving adjuvant therapy. The serum concentrations of free triiodothyronine (fT3), free thyroxine (fT4) and thyroid stimulating hormone (TSH) were assessed at baseline, 24 h, 48 h, 72 h and 96 h, and 1, 6 and 12 months after 131I therapy. The RAIU was assessed after 5 h, 24 h, 48 h, 72 h, and 96 h.

Results: Levels of fT3 in the Li(+) group compared to the Li(-) group were significantly higher at baseline, lower after 48 h, 72 h, 96 h and 1 month, and did not differ significantly after 24 h, 6 months and 12 months. Levels of fT4 in the Li(+) group compared to the Li(-) group were significantly higher at baseline, lower after 24 h, 48 h, 72 h, 96 h and 1 month, and not differ significantly after 6 and 12 months. The RAIU in the hyperthyroidism Li(-) and Li(+) groups, respectively, was 11.9 ±5.6% compared to 23.9 ±10.1% (p < 0.001) after 5 h; 25.9 ±8.3% compared to 40.5 ±12.4% (p < 0.05) after 24 h; 7.8 ±8.1% compared to 40.9 ±13.7% (p < 0.05) after 48 h; 26.2 ±10.2% compared to 39.5 ±11.2% (p < 0.01) after 72 h; and 24.7 ±7.1% compared to 37.4 ±10.1% (p < 0.01) after 96 h.

Conclusions: Adjuvant therapy with Li in patients with hyperthyroidism caused a significant increase in RAIU and positive changes in the fT3 and fT4 profiles. The use of lithium carbonate prior to the inclusion of 131I in hyperthyroid patients with low RAIU should be considered.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.17219/acem/126287DOI Listing
April 2021

Immunohistochemical analysis of ghrelin expression in various types of adrenal tumors.

Folia Histochem Cytobiol 2021 Apr 9. Epub 2021 Apr 9.

Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland.

Introduction: Ghrelin, originally isolated from the endocrine cells of the gastric mucosa, is also expressed in many peripheral tissues, including normal adrenals and adrenocortical tumors. It was shown that ghrelin stimulates proliferation and inhibits apoptosis of adrenocortical cells. In the current study, we compared ghrelin expression at the protein level in various adrenal tumors. We analyzed whether immunoreactive ghrelin could be considered as a potential marker for different types of adrenal tumors.

Material And Methods: Study was carried out on 200 adrenal specimens arranged on microscope slide in tissue microarray format. We performed standardized immunohistochemical reactions with semiquantitative reaction intensity measurements.

Results: At the protein level, the expression of ghrelin was significantly reduced in adrenocortical adenocarcinoma in relation to the control group and pheochromocytoma as well as cancer-adjacent normal adrenal tissue. In contrast, a relatively high ghrelin expression was found in pheochromocytoma compared to all analyzed groups, with the exception of cancer-adjacent normal adrenal tissue.

Conclusions: The ghrelin expression profile at the protein level may be associated with the type of adrenal tumors. In this context, our results suggest that adrenal immunoreactive ghrelin may be considered as a sensitive and specific marker for differentiating adrenocortical carcinoma from adrenocortical adenoma and pheochromocytoma.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5603/FHC.a2021.0009DOI Listing
April 2021

Buccal Resveratrol Delivery System as a Potential New Concept for the Periodontitis Treatment.

Pharmaceutics 2021 Mar 20;13(3). Epub 2021 Mar 20.

Department of Pharmacognosy, Poznan University of Medical Sciences, Święcickiego 4, 60-781 Poznań, Poland.

The health benefits of resveratrol have been proven to inhibit the development of numerous diseases. A frequent limitation in its use is a low bioavailability stemming from a poor solubility and fast enterohepatic metabolism. Thus, the aim of the research was to investigate the possibility to formulate mucoadhesive cyclodextrin- and xanthan gum-based buccal tablets in order to increase the solubility of resveratrol and to eliminate bypass enterohepatic metabolism. Systems of resveratrol with α-cyclodextrin (α-CD), β-cyclodextrin (β-CD), γ-cyclodextrin (γ-CD) and 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) prepared by the dry mixing method (ratio 1:1) were selected for the of tablets where xanthan gum was used as a mucoadhesive agent. They were identified on the basis of PXRD, FT-IR analysis. Tablets F1 (with α-CD), F2 (with β-CD) and F3 (with γ-CD) were characterized by the highest compactibility as well as by favorable mucoadhesive properties. Resveratrol release from these tablets was delayed and controlled by diffusion. The tablets prepared in the course of this study appear to constitute promising resveratrol delivery systems and are recommended to increase the effectiveness of the treatment in many diseases, particularly periodontitis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/pharmaceutics13030417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8003728PMC
March 2021

Effect of restoration of euthyroidism on visfatin concentrations and body composition in women.

Endocr Connect 2021 Apr 26;10(4):462-470. Epub 2021 Apr 26.

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.

Dysregulation of thyroid function has known impact on body metabolism, however, data regarding metabolic outcome after restoration of thyroid function is limited. Therefore, the aim of the study was to investigate the effect of restoration of euthyroidism on serum visfatin, and its associations with insulin resistance and body composition. This is an observational study with consecutive enrollment. Forty-nine hyperthyroid (median age of 34 years) and 44 hypothyroid women (median age of 46 years) completed the study. Laboratory parameters and body composition analysis were assessed before and after the therapy. In the hyperthyroid group, visfatin concentrations increased (P < 0.0001), while glucose concentrations decreased (P < 0.0001). Total body mass and fat mass in the trunk and limbs significantly increased during the treatment. In the hypothyroid group, significant weight loss resulted from decrease of fat and muscle masses in trunk and limbs. Visfatin serum concentrations positively correlated with total fat mass (r = 0.19, P = 0.01) and insulin concentrations (r = 0.17, P = 0.018). In conclusion, restoration of thyroid function is not associated with beneficial changes in body composition, especially among hyperthyroid females.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1530/EC-21-0059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8111308PMC
April 2021

and expression in papillary thyroid cancer.

Oncol Lett 2021 May 2;21(5):342. Epub 2021 Mar 2.

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.

Recent studies have revealed the significant role of and genes in the development and aggressiveness of numerous types of malignant tumor. Therefore, the present study aimed to investigate the expression of and in papillary thyroid cancer, and to determine the correlation between the expression of these genes and clinical characteristics. Resected thyroid tissue samples from 62 patients with papillary thyroid cancer were investigated. Thyroid tissue derived from the healthy regions of removed nodular goiters from 30 patients served as the control group. Reverse transcription-quantitative PCR analysis was employed to detect relative mRNA expression levels. Primer sequences and TaqMan hydrolysis probe positions for and were determined using the Roche Universal ProbeLibrary Assay Design Center version 2.50. expression was detected in all thyroid cancer samples and in 83.3% of benign lesions. Notably, was revealed to be upregulated in thyroid cancer tissues compared with control tissues (P=0.0002). expression was positively correlated with tumor stage (P<0.0001; r=0.504), and multiple comparison analysis revealed that the highest expression of was detected in samples staged pT4 (P=0.0001). expression was detected in all thyroid cancer samples and in 96.7% of healthy thyroid tissues; notably, the expression levels were similar in both groups. In addition, there was no correlation between expression and the aggressiveness of papillary thyroid cancer. In conclusion, overexpression of the gene may be associated with the development of papillary thyroid cancer and may be a potential therapeutic target in papillary thyroid cancer.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3892/ol.2021.12603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7967944PMC
May 2021

Sonographic Features Differentiating Follicular Thyroid Cancer from Follicular Adenoma-A Meta-Analysis.

Cancers (Basel) 2021 Feb 24;13(5). Epub 2021 Feb 24.

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 61-701 Poznan, Poland.

Certain ultrasound features are associated with an increased risk of thyroid malignancy. However, they were studied mainly in papillary thyroid cancers (PTCs); these results cannot be simply extrapolated for the differentiation of follicular thyroid adenomas and cancers (FTAs and FTCs). The aim of our study was to perform a meta-analysis to identify sonographic features suggesting malignancy in the case of follicular lesions, potentially differentiating FTA and FTC. We searched thirteen databases from January 2006 to December 2020 to find all relevant, full-text journal articles written in English. Analyses assessed the accuracy of malignancy detection in case of follicular lesions, potentially differentiating FTA and FTC included the odds ratio (OR), sensitivity, specificity, positive and negative predictive values. A random-effects model was used to summarize collected data. Twenty studies describing sonographic features of 10,215 nodules met the inclusion criteria. The highest overall ORs to increase the risk of malignancy were calculated for tumor protrusion (OR = 10.19; 95% confidence interval: 2.62-39.71), microcalcifications or mixed type of calcifications (coexisting micro and macrocalcifications): 6.09 (3.22-11.50), irregular margins: 5.11 (2.90-8.99), marked hypoechogenicity: 4.59 (3.23-6.54), and irregular shape: 3.6 (1.19-10.92). The most crucial feature associated with an increased risk of FTC is capsule protrusion, followed by the presence of calcifications, irrespectively of their type.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/cancers13050938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7956257PMC
February 2021

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

Endocrine 2021 Feb 22. Epub 2021 Feb 22.

Department of Cardiology - Intensive Therapy, Poznan University of Medical Sciences, Poznan, Poland.

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/m than patients with non-HAPCOS and nearly 6 kg/m 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.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12020-021-02648-7DOI Listing
February 2021

Effect of Various Exercise Regimens on Selected Exercise-Induced Cytokines in Healthy People.

Int J Environ Res Public Health 2021 01 31;18(3). Epub 2021 Jan 31.

Department of Cardiology-Intensive Therapy, Poznan University of Medical Sciences, 60-355 Poznań, Poland.

Different forms of physical activity-endurance, resistance or dynamic power-stimulate cytokine release from various tissues to the bloodstream. Receptors for exercise-induced cytokines are present in muscle tissue, adipose tissue, liver, brain, bones, cardiovascular system, immune system, pancreas, and skin. They have autocrine, paracrine and endocrine activities. Many of them regulate the myocyte growth and differentiation necessary for muscle hypertrophy and myogenesis. They also modify energy homeostasis, lipid, carbohydrate, and protein metabolism, regulate inflammation and exchange information (crosstalk) between remote organs. So far, interleukin 6 and irisin have been the best studied exercise-induced cytokines. However, many more can be grouped into myokines, hepatokines and adipomyokines. This review focuses on the less known exercise-induced cytokines such as myostatin, follistatin, decorin, brain-derived neurotrophic factor, fibroblast growth factor 21 and interleukin 15, and their relation to various forms of exercise, i.e., acute vs. chronic, regular training in healthy people.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijerph18031261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7908590PMC
January 2021

Is There an Ideal Diet to Protect against Iodine Deficiency?

Nutrients 2021 Feb 4;13(2). Epub 2021 Feb 4.

Department of Gastroenterology, Dietetics and Internal Diseases, Poznan University of Medical Sciences, Heliodor Swiecicki Hospital, 60-355 Poznan, Poland.

Iodine deficiency is a global issue and affects around 2 billion people worldwide, with pregnant women as a high-risk group. Iodine-deficiency prevention began in the 20th century and started with global salt iodination programmes, which aimed to improve the iodine intake status globally. Although it resulted in the effective eradication of the endemic goitre, it seems that salt iodination did not resolve all the issues. Currently, it is recommended to limit the consumption of salt, which is the main source of iodine, as a preventive measure of non-communicable diseases, such as hypertension or cancer the prevalence of which is increasing. In spite of the fact that there are other sources of iodine, such as fish, seafood, dairy products, water, and vegetables, the high consumption of processed food with a high content of unionised salt, alternative diets or limited salt intake can still lead to iodine deficiency. Thus, iodine deficiency remains a relevant issue, with new, preventive solutions necessary. However, it appears that there is no diet which would fully cover the iodine requirements, and iodine food supplementation is still required.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/nu13020513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7914421PMC
February 2021

The Safety and Efficacy of the Repeated PRRT with [Y]Y/[Lu]Lu-DOTATATE in Patients with NET.

Int J Endocrinol 2021 23;2021:6615511. Epub 2021 Jan 23.

Nuclear Medicine Department, Medical University of Warsaw, Warsaw, Poland.

Purpose: The peptide receptor radionuclide therapy (PRRT) is a treatment option for patients with disseminated, inoperable G1 and G2 neuroendocrine tumours (NETs). The study aims to evaluate the safety, efficacy, and progression-free survival (PFS) of patients after retreatment (R-PRRT) and re-retreatment (RR-PRRT) with tandem isotopes [Y]Y/[Lu]Lu-DOTATATE. . Out of 99 treated patients with G1 and G2 NETs, 26 were included in the study and treated with the repeated PRRT (with 5 undergoing the re-repeated PRRT treatment) after an initial positive response to four PRRT cycles and later progression of the disease. [Ga]Ga-DOTATATE PET/CT and CT/MRI procedures were performed before and after the treatment. Patients were treated with [Y]Y/[Lu]Lu-DOTATATE (1 : 1) with mixed amino acid infusion for kidney protection. Toxicity was evaluated using the CTCAE 3.0 criteria.

Results: The median follow-up was 88 months (the range: 42-164). The median cumulative administered activity was 22.2 GBq (the range: 17.8-30.7 GBq). Myelodysplastic syndrome occurred in one patient (3.8%), and grade 4 renal toxicity was also detected in one patient (3.8%). No other cases of grade 3 or 4 bone marrow and renal toxicity were observed. The median PFS rate was 31 months after the PRRT and 23 months following the R-PRRT. The OS rate from the diagnosis (OS-d) was 109 months and from the start of the PRRT (OS-t)-92.4 months. During the restaging, 3-6 months after the PRRT, PR, SD, and PD were observed in 19.2%, 80.8%, and 0% of the patients, respectively. After the R-PRRT, PR, SD, and PD were observed in 50%, 42.3%, and 7.7% of the patients, respectively.

Conclusions: The repeated therapy with [Y]Y/[Lu]Lu-DOTATATE is safe and effective for patients with disseminated, inoperable G1 and G2 neuroendocrine tumours.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1155/2021/6615511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847334PMC
January 2021

Evaluation of interleukin-29 in autoimmune and inflammatory thyroid diseases.

Clin Endocrinol (Oxf) 2021 Jan 15. Epub 2021 Jan 15.

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.

Objective: Interleukins play an important role in the development of autoimmune disorders. The aim of this study was to compare the concentration of interleukin-29 (IL-29) between healthy controls (CS) and patients with selected thyroid disorders: Graves' disease (GD), Hashimoto's thyroiditis (HT) and subacute thyroiditis (SAT).

Design And Methods: The following parameters were examined in the group of 95 individuals (45 with GD, 22 with HT, 28 with SAT) and 72 CS: thyroid hormones and autoantibodies, inflammatory markers and the concentration of IL-29 in serum.

Results: The concentration of IL-29 in the GD subgroup was higher than that in the CS subgroup [264.0 (62.5-1018.0) vs. 62.5 (62.5-217.0) pg/mL, P = .001]. We found no differences in IL-29 concentrations between the CS and HT or SAT subgroups. Multivariable linear regression analysis indicated that IL-29 was a statistically significant independent predictor of GD presence (r = 0.24; P = .003) after adjustment for TRAb (R = 0.45; P < .001). The ROC analysis of IL-29 at GD diagnosis revealed an IL-29 cut-off of 123 pg/mL (sensitivity: 0.689 and specificity: 0.625) as the best value, which significantly indicated the presence of GD [area under the ROC curve (AUC): 0.676; 95% confidence interval (CI): 0.574-0.778, P < .001].

Conclusion: This is the first study to demonstrate elevated IL-29 serum levels in patients with GD. Our results suggest that IL-29 might be engaged in one of the pathogenetic pathways of GD, but no HT and SAT. Future studies are required to evaluate the potential of the protein as a therapeutic target in GD.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.14418DOI Listing
January 2021

Titin and dystrophin serum concentration changes in patients affected by thyroid disorders.

Endokrynol Pol 2021 9;72(1):1-7. Epub 2020 Dec 9.

Department of Endocrinology, Metabolism, and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.

Introduction: It is well established that thyroid hormones significantly affect skeletal muscle function, causing symptoms like myalgia and muscle weakness. Hypothyroid patients present increased levels of creatine kinase (CK), indicating muscle destruction. Lately, we proposed new serum markers of muscle disturbances in thyroid disorders: titin (TTN) and dystrophin (DMD). The aim of this study is to determine the association between thyroid status, muscle metabolism, and serum levels of TTN and DMD in patients affected by hypoand hyperthyroidism, before and after the treatment.

Material And Methods: In the study 56 subjects were enrolled. The studied group consisted of 16 patients with newly diagnosed overt hypothyroidism and 20 patients with hyperthyroidism. Twenty healthy controls were also included in the study. Body composition, thyroid hormones, and biochemical markers of muscle deterioration levels were evaluated before and after restoration of euthyroidism.

Results: Dystrophin and TTN levels were noticeably lower in the hypothyroid group and hyperthyroid group in comparison with controls, at the border of statistical significance. Along with the thyroid hormones and CK normalisation, DMD levels increased in the hypothyroid group, with no significant lowering of TTN levels. However, TTN concentrations and the fT3/fT4 ratio became significantly lower than in controls. Hyperthyroid patients experienced no significant changes in TTN and DMD.

Conclusions: The presented data indicate that TTN and DMD are potential new markers of musculoskeletal deterioration in thyroid disorders. In addition, the shift in TTN and DMD serum concentrations after the treatment of hypothyroidism accompanied by decreased fT3/fT4 ratio suggest the influence of the chosen therapeutic approach on muscle metabolism.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5603/EP.a2020.0083DOI Listing
December 2020

Chromogranin A assessment in patients with neuroendocrine neoplasm of the small bowel and carcinoid syndrome treated with somatostatin analogues.

Adv Clin Exp Med 2020 Nov;29(11):1319-1324

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poland.

Background: Chromogranin A (CgA) is one of the non-specific markers measured in the biochemical diagnostics of neuroendocrine neoplasms (NENs).

Objectives: To analyze the CgA levels of patients with carcinoid syndrome who are being treated with somatostatin analogues (SSAs), depending on the histologic maturity of the neoplasm, the degree of liver involvement and the stage of the disease.

Material And Methods: The study group comprised of 41 patients, including 29 women (70.7%) and 12 men (29.3%). All of the patients had undergone surgical removal of the primary site. Hepatic metastases were found in all patients and they all were treated with SSAs. Chromogranin A concentration was determined using the enzyme-linked immunosorbent assay (ELISA).

Results: Among the patients with grade 1 tumors, the mean CgA value was 298.83 ng/mL, whereas in the group with grade 2 tumors, the CgA value was 1498.44 ng/mL, which was a statistically significant difference (p < 0.001). In the group of patients with 10% liver involvement, the mean CgA value was 394.44 ng/mL, whereas in the group of patients with 25% liver involvement, this value was 1,770.63 ng/mL, demonstrating significantly higher values (p < 0.001). Among the patients with a progressing disease, the mean CgA concentration value was 1,620.78 ng/mL, whereas in the group of patients with a stable disease, these were considerably lower, amounting to 230.36 ng/mL (p < 0.001).

Conclusions: Assessing CgA level in patients with carcinoid syndrome is helpful in the diagnostics and monitoring of treatment because CgA values depend on the tumor grade and the severity of the disease.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.17219/acem/126290DOI Listing
November 2020

Expert opinion on liquid L-thyroxine usage in hypothyroid patients and new liquid thyroxine formulation - Tirosint SOL [Opinia ekspertów dotycząca stosowania płynnej postaci lewotyroksyny oraz nowego preparatu Tirosint SOL u chorych na niedoczynność tarczycy].

Endokrynol Pol 2020 ;71(5):441-465

Department of Endocrinology, Medical Centre of Postgraduate Education, Warsaw, Poland.

Hypothyroidism is a common endocrine disorder affecting 3-15% of the adult population in subclinical form and 0.3-0.8% as overt disease. The mainstay of treatment is replacement monotherapy with levothyroxine (LT4). Currently several oral LT4 formulations including tablets, softgel capsules, and liquid formulations are available. Liquid LT4 is manufactured as LT4 solution in 85% glycerol and 96% ethanol and as LT4 solution in purified water and glycerol. The latest formulation, Tirosint SOL, gained FDA approval in 2017. To evaluate the clinical utility of liquid LT4 we reviewed the literature using three databases: PubMed/MEDLINE, Scopus, and Embase and found 405 articles among which 23 prospective and two retrospective studies were further evaluated. Finally, several case reports on rare clinical conditions were discussed. Our review demonstrated that liquid LT4 was more effective than tablet formulation in patients with malabsorption caused by interfering diseases, drugs, and bariatric surgery. The better pharmacokinetics of liquid LT4 was also confirmed in subjects without malabsorption: patients on replacement or suppressive therapy, who switched from tablet to liquid formulation in equivalent dose, gained better hormonal control, and required less frequent TSH measurements. The drug also appeared effective and easy to handle in patients fed by enteric tube. Liquid LT4 appeared equally effective whenever taken before or during breakfast. The analysis of the drug utility in particular populations including newborns, pregnant women, and the elderly confirmed the high value and safety of liquid LT4. However, in neonates the higher incidence of TSH suppression on liquid in comparison to tablet LT4 therapy was noted, and particular attention to avoid over-treatment must be paid. Concluding: the literature review revealed that liquid LT4 is especially advantageous in patients with malabsorption and the critically ill, but it seems also very promising in common therapy. The lack of alcohol content in the new formulation makes Tirosint SOL especially attractive.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5603/EP.a2020.0065DOI Listing
January 2020

Adropin Stimulates Proliferation and Inhibits Adrenocortical Steroidogenesis in the Human Adrenal Carcinoma (HAC15) Cell Line.

Front Endocrinol (Lausanne) 2020 8;11:561370. Epub 2020 Oct 8.

Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland.

Adropin is a multifunctional peptide hormone encoded by the (energy homeostasis associated) gene. It plays a role in mechanisms related to increased adiposity, insulin resistance, as well as glucose, and lipid metabolism. The low adropin levels are strongly associated with obesity independent insulin resistance. On the other hand, overexpression or exogenous administration of adropin improves glucose homeostasis. The multidirectional, adropin-related effects associated with the regulation of metabolism in humans also appear to be attributable to the effects of this peptide on the activity of various elements of the endocrine system including adrenal cortex. Therefore, the main purpose of the present study was to investigate the effect of adropin on proliferation and secretory activity in the human HAC15 adrenal carcinoma cell line. In this study, we obtained several highly interesting findings. First, GPR19, the main candidate sensitizer of adrenocortical cells to adropin, was expressed in HAC15 cells. Moreover, GPR19 expression was relatively stable and not regulated by ACTH, forskolin, or adropin itself. Our findings also suggest that adropin has the capacity to decrease expression levels of steroidogenic genes such as steroidogenic acute regulatory protein () and , which then led to a statistically significant inhibition in cortisol and aldosterone biosynthesis and secretion. Based on whole transcriptome study and research involving transforming growth factor (TGF)-β type I receptor kinase inhibitor we demonstrated that attenuation of steroidogenesis caused by adropin is mediated by the TGF-β signaling pathway likely to act through transactivation mechanism. We found that HAC15 cells treated with adropin presented significantly higher proliferation levels than untreated cells. Using specific intracellular inhibitors, we showed that adropin stimulate proliferation via ERK1/2 and AKT dependent signaling pathways. We have also demonstrated that expression of GPR19 is elevated in adrenocortical carcinoma in relation to normal adrenal glands. High level of GPR19 expression in adrenocortical carcinoma may constitute a negative prognostic factor of disease progression.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2020.561370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579427PMC
October 2020

Head and Neck Paragangliomas-A Genetic Overview.

Int J Mol Sci 2020 Oct 16;21(20). Epub 2020 Oct 16.

Department of Otolaryngology, Head and Neck Surgery, Poznan University of Medical Sciences, 60-355 Poznań, Poland.

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 and ). Approximately 25-30% of cases are due to somatic mutations, such as , and . 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).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21207669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7589036PMC
October 2020

Effect of Central Obesity and Hyperandrogenism on Selected Inflammatory Markers in Patients with PCOS: A WHtR-Matched Case-Control Study.

J Clin Med 2020 Sep 20;9(9). Epub 2020 Sep 20.

Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego St, 60-355 Poznań, Poland.

White blood cell counts (WBC), lymphocyte-to-monocyte ratio (LMR), and monocyte-to-high-density lipoprotein cholesterol ratio (MHR) are used as chronic inflammation markers. Polycystic ovary syndrome (PCOS) is a constellation of systemic inflammation linked to central obesity (CO), hyperandrogenism, insulin resistance, and metabolic syndrome. The waist-to-height ratio (WHtR) constitutes a highest-concordance anthropometric CO measure. This study aims to access WBC, LMR, and MHR in PCOS and healthy subjects, with or without CO. Establishing relationships between complete blood count parameters, high-sensitivity C-reactive protein (hsCRP), and hormonal, lipid and glucose metabolism in PCOS. To do this, WBC, LMR, MHR, hsCRP, anthropometric, metabolic, and hormonal data were analyzed from 395 women of reproductive age, with and without, PCOS. Correlations between MHR, and dysmetabolism, hyperandrogenism, and inflammation variables were examined. No differences were found in WBC, LMR, MHR, and hsCRP between PCOS and controls ( > 0.05). PCOS subjects with CO had higher hsCRP, MHR, and WBC, and lower LMR vs. those without CO ( < 0.05). WBC and MHR were also higher in controls with CO vs. without CO ( < 0.001). MHR correlated with anthropometric, metabolic, and endocrine parameters in PCOS. WHtR appeared to strongly predict MHR in PCOS. We conclude that PCOS does not independently influence WBC or MHR when matched for CO. CO and dysmetabolism may modify MHR in PCOS and control groups.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcm9093024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565377PMC
September 2020

Impact of the Q.Clear reconstruction algorithm on the interpretation of PET/CT images in patients with lymphoma.

EJNMMI Res 2020 Aug 26;10(1):99. Epub 2020 Aug 26.

Department of Nuclear Medicine, Affidea Poznań, Poznań, Poland.

Background: Q.Clear is a new Bayesian penalized-likelihood PET reconstruction algorithm. It has been documented that Q.Clear increases the SUVmax values of different malignant lesions.

Purpose: SUVmax values are crucial for the interpretation of PET/CT images in patients with lymphoma, particularly when the early and final responses to treatment are evaluated. The aim of the study was to systematically analyse the impact of the use of Q.Clear on the interpretation of PET/CT in patients with lymphoma.

Methods: A total of 280 F-FDG PET/CT scans in patients with lymphoma were performed for staging (sPET), for early treatment response (iPET), after the end of treatment (ePET) and when a relapse of lymphoma was suspected (rPET). Scans were separately reconstructed with two algorithms, Q.Clear and OSEM, and further compared.

Results: The stage of lymphoma was concordantly diagnosed in 69/70 patients with both algorithms on sPET. Discordant assessment of the Deauville score (p < 0.001) was found in 11 cases (15.7%) of 70 iPET scans and in 11 cases of 70 ePET scans. An upgrade from a negative to a positive scan by Q.Clear occurred in 3 cases (4.3%) of iPET scans and 7 cases (10.0%) of ePET scans. The results of all 70 rPET scans were concordant. The SUVmax values of the target lymphoma lesions measured with Q.Clear were higher than those measured with OSEM in 88.8% of scans.

Conclusion: Although the Q.Clear algorithm may alter the interpretations of PET/CT in only a small proportion of patients, we recommend using standard OSEM reconstruction for the assessment of treatment response.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13550-020-00690-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450027PMC
August 2020

Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.

Int J Mol Sci 2020 Aug 11;21(16). Epub 2020 Aug 11.

Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 60-355 Poznan, Poland.

Combined pituitary hormone deficiency represents a disorder with complex etiology. For many patients, causes of the disease remain unexplained, despite usage of advanced genetic testing. Although major and common transcription factors were identified two decades ago, we still struggle with identification of rare inborn factors contributing to pituitary function. In this report, we follow up genomic screening of CPHD patient cohort that were previously tested for changes in a coding sequences of genes with the use of the whole exome. We aimed to find contribution of rare copy number variations (CNVs). As a result, we identified genomic imbalances in 7 regions among 12 CPHD patients. Five out of seven regions showed copy gains whereas two presented losses of genomic fragment. Three regions with detected gains encompassed known CPHD genes namely , and . Among new CPHD loci, the most interesting seem to be the region covering gene, that is abundantly expressed in developing brain, and together with contributes to pituitary organogenesis as it was evidenced before in functional studies. In conclusion, with the use of broadened genomic approach we identified copy number imbalances for 12 CPHD patients. Although further functional studies are required in order to estimate its true impact on expression pattern during pituitary organogenesis and CPHD etiology.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21165757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461210PMC
August 2020

S-Detect Software vs. EU-TIRADS Classification: A Dual-Center Validation of Diagnostic Performance in Differentiation of Thyroid Nodules.

J Clin Med 2020 Aug 3;9(8). Epub 2020 Aug 3.

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.

Computer-aided diagnosis (CAD) and other risk stratification systems may improve ultrasound image interpretation. This prospective study aimed to compare the diagnostic performance of CAD and the European Thyroid Imaging Reporting and Data System (EU-TIRADS) classification applied by physicians with S-Detect 2 software CAD based on Korean Thyroid Imaging Reporting and Data System (K-TIRADS) and combinations of both methods (MODELs 1 to 5). In all, 133 nodules from 88 patients referred to thyroidectomy with available histopathology or with unambiguous results of cytology were included. The S-Detect system, EU-TIRADS, and mixed MODELs 1-5 for the diagnosis of thyroid cancer showed a sensitivity of 89.4%, 90.9%, 84.9%, 95.5%, 93.9%, 78.9% and 93.9%; a specificity of 80.6%, 61.2%, 88.1%, 53.7%, 73.1%, 89.6% and 80.6%; a positive predictive value of 81.9%, 69.8%, 87.5%, 67%, 77.5%, 88.1% and 82.7%; a negative predictive value of 88.5%, 87.2%, 85.5%, 92.3%, 92.5%, 81.1% and 93.1%; and an accuracy of 85%, 75.9%, 86.5%, 74.4%, 83.5%, 84.2%, and 87.2%, respectively. Comparison showed superiority of the similar MODELs 1 and 5 over other mixed models as well as EU-TIRADS and S-Detect used alone (-value < 0.05). S-Detect software is characterized with high sensitivity and good specificity, whereas EU-TIRADS has high sensitivity, but rather low specificity. The best diagnostic performance in malignant thyroid nodule (TN) risk stratification was obtained for the combined model of S-Detect ("possibly malignant" nodule) and simultaneously obtaining 4 or 5 points (MODEL 1) or exactly 5 points (MODEL 5) on the EU-TIRADS scale.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcm9082495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464710PMC
August 2020

Changes in cognitive functions in a girl with severe acquired hypothyroidism in comparison to the healthy twin sister.

Endokrynol Pol 2020 27;71(4):365-366. Epub 2020 Jul 27.

Department of Clinical Psychology, Poznan University of Medical Sciences, Poznan, Poland.

Not required for Clinical Vignette.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5603/EP.a2020.0043DOI Listing
July 2020

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.

Endocrine 2021 Feb 21;71(2):514-519. Epub 2020 Jul 21.

Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Street, 60-355, Poznan, Poland.

Purpose: Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis, affecting 0.05-0.5% population. The aim of the study was an identification of genetic factors responsible for thyroid maldevelopment in two siblings with THA.

Methods: We evaluated a three-generation THA family with two sisters presenting the disorder. Proband (Patient II:3) was diagnosed at the age of 45 due to neck asymmetry. Left lobe agenesis and nontoxic multinodular goiter were depicted. Proband's sister (Patient II:6) was euthyroid, showed up at the age of 39 due to neck discomfort and left-sided THA was demonstrated. Affected individuals were subjected to whole-exome sequencing (WES) (Illumina, TruSeq Exome Kit) and all identified variants were evaluated for pathogenicity. Sanger sequencing was used to confirm WES data and check segregation among first-degree relatives.

Results: In both siblings, a compound heterozygous mutations NM_000168.6: c.[2179G>A];[4039C>A] (NP_000159.3: p.[Gly727Arg];[Gln1347Lys]) were identified in the GLI3 gene, affecting exon 14 and 15, respectively. According to the American College of Medical Genetics, variants are classified as of uncertain significance, and were found to be very rare (GnomAD MAF 0.007131 and 0.00003187). The segregation mapping and analysis of relatives indicated causativeness of compound heterozygosity.

Conclusions: We demonstrated for the first time a unique association of THA phenotype and the presence of compound heterozygous mutations p.[Gly727Arg];[Gln1347Lys] of GLI3 gene in two siblings.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12020-020-02422-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881956PMC
February 2021