Gender-dependent and age-of-onset-specific association of the rs11675434 single-nucleotide polymorphism near TPO with susceptibility to Graves' ophthalmopathy.

The role of TPO gene polymorphism in the susceptibility to Graves' disease (GD) remains unclear. However, single-nucleotide polymorphisms (SNPs) near TPO have been recently associated with serum levels of thyroid peroxidase (TPO) antibody in two independent genome-wide association studies. Moreover, we have observed a strong association between the rs11675434 SNP located near TPO and the presence of clinically evident Graves' ophthalmopathy (GO).

Lipoxin A (LXA) as a potential first trimester biochemical marker of intrauterine growth disorders.

Objective: To evaluate first trimester maternal serum levels of lipoxin A (LXA) in prediction of intrauterine fetal growth.

Methods: Study group of 185 patients in singleton pregnancy was divided into three subgroups according to neonatal birthweight: ≤10th percentile (SGA), 11-89th percentile (AGA) and ≥90 percentile (LGA).

Results: We observed decreased values of LXA concentrations, both in SGA- and LGA groups, when compared to AGA (68.

Prevalence and impact of autoimmune thyroid disease on myasthenia gravis course.

Objectives: Autoimmune thyroid diseases (ATDs) frequently accompany myasthenia gravis (MG) and may influence its course. We aimed to determine the association and impact of ATD with early- (<50 years), late-onset MG, or thymoma-MG.

Materials And Methods: Prevalence of ATD was measured in a cross-sectional study of 343 consecutive patients with MG (236 F, 107 M) aged 4-89 years; 83.

[Woman 19-old with hirsutism, obesity and acanthosis nigricans].

19-year-old hirsute woman with obesity, skin lesions with features of acanthosis nigricans around neck, armpits, thoracic cage and wrists escalating for couple of months, elevated testosterone and insulin plasma levels was admitted to hospital to perform diagnostic approach. The final diagnosis was hyperandrogenism-insulin resistance-acanthosis nigricans syndrome (HAIR-AN syndrome), considered as a subtype of policystic ovary syndrome (PCOS) and impaired glucose tolerance. HAIR-AN is characterized by coexistence of: hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN).

Adrenal incidentaloma in adults - management recommendations by the Polish Society of Endocrinology.

Introduction: A wide use of imaging techniques results in more frequent diagnosis of adrenal incidenataloma.

Aim: To analyse the current state of knowledge on adrenal incidentaloma in adults in order to prepare practical management recommendations.

Methods: Following a discussion, the Polish Society of Endocrinology expert working group have analysed the available data and summarised the analysis results in the form of recommendations.

Differences in Gene-Gene Interactions in Graves' Disease Patients Stratified by Age of Onset.

Background: Graves' disease (GD) is a complex disease in which genetic predisposition is modified by environmental factors. Each gene exerts limited effects on the development of autoimmune disease (OR = 1.2-1.

Toxic epidermal necrolysis in patient with malignant astrocytoma.

Unlabelled: Toxic epidermal necrolysis (TEN) is a severe, life-threatening mucocutaneus adverse reaction, most commonly triggered by medication. Treatment in some aspects is still controversial.

Case Report: Patient with malignant astrocytoma, treated with palliative radiotherapy, developed massive erythema with bullae.

Complete recovery of visual acuity as the main goal of treatment in patients with dysthyroid optic neuropathy.

Introduction: To evaluate the effectiveness of methylprednisolone (MP) and surgical treatment in achieving complete reversal of dysthyroid optic neuropathy (DON) and predictive factors of this therapy.

Material And Methods: The group consisted of 10 patients (18 eyes) with DON. The diagnosis of DON was based on at least two criteria from the following: (i) deterioration of visual acuity (VA< 1.

The Associations Between Body Cell Mass and Nutritional and Inflammatory Markers in Patients With Chronic Kidney Disease and in Subjects Without Kidney Disease.

Objectives: Body cell mass (BCM), a component of lean tissue mass (LTM), is a metabolically active part of the body. Lean tissue loss is one of the diagnostic criteria of protein energy wasting. In patients with chronic kidney disease (CKD), a decrease of lean tissue, including BCM, may be replaced by an increase of extracellular water.

Is Free Testosterone Concentration a Prognostic Factor of Survival in Chronic Renal Failure (CRF)?

Background: Lowered testosterone level in CRF patients is associated with elevated risk of death due to cardiovascular reasons, and is influenced by many factors, including acid-base balance disorders.

Aims: evaluation of testoste-rone concentration (TT) and free testosterone concentration (fT) in pre-dialysis and dialysis patients; assessment of TT and fT relationships with biochemical parameters; evaluation of prognostic importance of TT and fT in predicting patient survival.

Material And Methods: 4 groups of men: 14 - on hemodialysis (HD), 13 - on peritoneal dialysis (PD), 9 - with chronic renal failure (CRF) and 8 - healthy (CG), aged 56±17, 53±15, 68±12, 43±10 years, respectively.

The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.

Objective: As nonclassic congenital adrenal hyperplasia (NCCAH) needs to be taken into account in women with hyperandrogenism, we aimed to assess whether the recommended level of poststimulated 17OHP ≥30 nmol/l confirms NCCAH.

Patients And Methods: Forty, consecutive women with biochemical and/or clinical hyperandrogenism (aged 25·4, 18-38) suspected of having NCCAH were recruited to the study. In patients with 17OHP level between 5·1 and 29·9 nmol/l an ACTH stimulation test was performed.

The morning and late-night salivary cortisol ranges for healthy women may be used in pregnancy.

Objectives: The diagnosis of adrenal dysfunction in pregnancy and in women taking oral contraceptives remains a diagnostic challenge. Salivary cortisol seems to be a useful tool for the diagnosis of Cushing's syndrome and adrenal insufficiency. However, the changes in salivary cortisol concentration in healthy pregnancy are not clearly defined.

Assessment of systemic and pulmonary arterial remodelling in women with systemic sclerosis.

Objectives: Systemic sclerosis (SSc) leads to pulmonary circulation dysfunctionand there are some indications of systemic circulation impairment. We evaluated the influence of SSc on the elastic properties of large systemic arterial walls and potential correlations between systemic and pulmonary circulation involvement.

Method: We examined 75 consecutive women (mean age 53.

[Abortion and conscientious objection].

Polish laws specify the parties responsible for lawful medical care in the availability of abortion differently than the Resolution of the Council of Europe. According to Polish regulations they include all Polish doctors while according to the Resolution, the state. Polish rules should not discriminate against anyone in connection with his religion or belief, even more so because the issue of abortion is an example of an unresolved ethical dispute.

The effect of surgical treatment of phaeochromocytoma on concomitant arterial hypertension and diabetes mellitus in a single-centre retrospective study.

Introduction: Phaeochromocytoma is one of the numerous causes of secondary hypertension. Furthermore, phaeochromocytoma may first present with type 2 diabetes mellitus. The objective of our study was to evaluate the effects of adrenalectomy on patient recovery with regards to normotension and well-controlled glycaemia.

Effect of common single nucleotide polymorphisms in COX-1 gene on related metabolic activity in diabetic patients treated with acetylsalicylic acid.

Introduction: The objective of this study was to investigate the effect of common single nucleotide genomic polymorphisms in the cyclooxygenase-1 (COX-1) gene on the thromboxane A2 (TxA2) metabolite concentrations in serum and urine, as well as on prostaglandin F2α (PGF2α) urinary excretion in the diabetic population on acetylsalicylic acid (ASA) therapy.

Material And Methods: The study cohort consisted of 284 Caucasians with diabetes type 2 who had been taking ASA tablets at the dose of 75 mg/day for at least 3 months. Genotyping for the 4 selected SNPs within the COX-1 gene (two nonsynonymous-coding variants, rs3842787 [C50T, P17L] and rs5789 [C174A, L237M]; and two other synonymous SNPs, rs3842788 [G128A, Q41Q] and rs5788 [C644A]) was performed using the Sequenom iPLEX platform.

Association between vitamin D concentration and levels of sex hormones in an elderly Polish population with different genotypes of VDR polymorphisms (rs10735810, rs1544410, rs7975232, rs731236).

Background: Vitamin D co-regulates the synthesis of sex hormones in part by interaction with its nuclear receptor. The aim of this study was to determine whether there is an association of vitamin D concentration vs the level of sex hormones in elderly Polish individuals with different genotypes of the vitamin D receptor (VDR) gene.

Materials And Methods: Rs10735810, rs1544410, rs7975232, and rs731236 polymorphisms of VDR, the serum sex hormone level, free estrogen index (FEI) and free androgen index (FAI) as well as vitamin D, were evaluated in 766 persons (362 women and 404 men) selected from 5695 Polish population, aged 65-90years from the PolSenior survey.

LC-MS/MS improves screening towards 21-hydroxylase deficiency.

Basal serum 17OHP measurement remains the first screening step for nonclassic congenital adrenal hyperplasia (NCCAH) and the accuracy of the test is of high value. The aim of this study was to compare the accuracy of immunoassays to LC-MS/MS in the assessment of serum 17OHP and androgens concentration in women with hyperandrogenism and controls. 17OHP, total testosterone, androstendione and DHEA-S were measured in 39 women with clinically and/or biochemically evident hyperandrogenism and in 29 age-matched controls without clinical hyperandrogenism.

Long-term cholecalciferol administration in hemodialysis patients: a single-center randomized pilot study.

Background: Data on the potent pleiotropic extraskeletal effects of vitamin D have renewed interest in its use in selected populations, including patients with chronic kidney disease, but the available data are still insufficient to make recommendations. This study assessed the long-term effect of small cholecalciferol doses on serum vitamin D, parathormone (PTH), and bone mineral density (BMD) in hemodialysis patients.

Material/methods: Nineteen patients with serum 25(OH)D <20 ng/mL were randomized into cholecalciferol (2000 IU 3×/week) and no-treatment groups, then observed for 1 year.

The association of thyroid peroxidase antibody risk loci with susceptibility to and phenotype of Graves' disease.

Background: Despite great progress, the genetic basis of Graves' disease (GD) remains poorly understood. Recently, a population-based genomewide association study (GWAS) identified five novel loci (ATXN2/SH2B3, MAGI3, BACH2, TPO and KALRN) as significantly associated with the presence of thyroid peroxidase autoantibodies (TPOAbs), whereas several other loci showed suggestive association.

Methods: In this study, we investigated 16 single nucleotide polymorphisms (SNPs) associated with TPOAbs for the association with susceptibility to and phenotype of GD in a cohort of 647 patients with GD and 769 controls from a Polish Caucasian population.

Is high dose intravenous methylprednisolone pulse therapy in patients with Graves' orbitopathy safe?

High dose intravenous glucocorticoid pulse (i.v. GCS) therapy is a proven approach in patients with active, moderate to severe Graves' orbitopathy (GO) and dysthyroid optic neuropathy (DON).

Enzymatic activity of type 1 iodothyronine deiodinase in selected liver tumors.

Introduction: Type 1 iodothyronine deiodinase (D1) converts thyroxin (T4) into tri-iodothyronine (T3). Strong evidence indicates that thyroid hormone metabolism is disturbed in neoplasms such as thyroid and breast cancer. However, there is limited data concerning the function of the D1 enzyme in liver tumors.