Dorota Sikorska

Bilateral primary pigmented nodular adrenal disease as a component of Carney syndrome — case report

We report a case of a 20-year-old patient with Cushings syndrome as a component of Carney syndrome. Carney syndrome is an autosomal dominant disease with co-existing bilateral pigmented nodular adrenal disease, heart and skin myxoma, skin pigmentation, breast fibroadenoma, testicular and ovarian tumours, thyroid tumours, and pituitary adenomas. (Endokrynol Pol 2017; 68 (1): 70-72).

The feature selection approach for evaluation of potential rheumatoid arthritis markers using MALDI-TOF datasets

BACKGROUND The selection of the most representative mass profiles, in rheumatoid arthritis (RA) serum samples was developed. This allows for selection and identification of potential biomarkers in RA serum samples. METHODS The RA and controls samples were analyzed using MALDI-TOF. Two different protein elution procedures utilizing ZipTips (E1 and E2) were examined. The statistical evaluation of data was performed using different feature selection (FS) methods in combination with different classifiers, while identification of selected masses was performed using MALDI-TOF-TOF. RESULTS Utilization of proposed statistical strategy allowed for the selection of different masses according to FS method and elution procedure. Obtained masses were further subjected for targeted identification. The panel of proteins were identified as potential markers. The role of these proteins was discussed in relation to pathomechanism of RA. CONCLUSION Application of advanced biostatistical analysis of obtained MALDI-TOF datasets, resulted with targeted selection of potential RA biomarkers. Five proteins were identified due the E1 procedure, and six proteins were identified due the E2 procedure, respectively. The panel of identified proteins suggest that presented statistical methodology and proteomic strategy was correct and gave valid results. Obtained results may contribute to development of clinically useful multicomponent diagnostic tool.

Do medical students adhere to advice regarding a healthy lifestyle? A pilot study of BMI and some aspects of lifestyle in medical students in Poland

BACKGROUND The components of lifestyle of medical students, with comprehensive reporting of their physical activity and drinking and eating behavior, are rarely evaluated. Being overweight (increased body mass index - BMI) is associated with health problems, an unhealthy lifestyle (inadequate sleep, diet and exercise) being implicated. OBJECTIVES The aim was to determine if there were discrepancies between assessments of actual lifestyle and advice regarding the principles of a healthy lifestyle. MATERIAL AND METHODS The relationship between lifestyle and BMI was investigated in 270 medical students (158 females, 112 males) who answered a questionnaire about aspects of their lifestyle. RESULTS The mean ±SD BMI in males (23.41 ±0.25kg/m2) was significantly higher than in females (20.52 ±0.16kg/m2). Many aspects of lifestyle differed significantly with gender, including sleep habits, number of meals eaten, types of food eaten (fast food, amounts of fresh fruit and vegetables, sweets, etc.) and alcohol consumption, males generally having less healthy lifestyles. After correcting the associations between BMI and lifestyle factors for gender, one main finding was a positive association between BMI and alcohol intake, BMI rising by 0.014 kg/m2/g alcohol intake per week. CONCLUSIONS These results show clear differences between actual and advised lifestyle with regard to many aspects of sleep, food and fluid intake, and exercise. Most students, particularly males, had not adopted a healthy lifestyle. Possible future problems associated with this require more emphasis.

Dialysis vintage stratified comparison of body composition, hydration and nutritional state in peritoneal dialysis and hemodialysis patients

Introduction Body mass decomposition and hydration state imbalances affect patients on maintenance dialysis. We compared body composition, hydration and nutritional state of patients on peritoneal dialysis (PD) and hemodialysis (HD) based on dialysis vintage (DV). Material and methods Three hundred and fifty-nine prevalent patients on HD (n = 301) and PD (n = 58) were divided into 3 subgroups depending on DV: < 2 years HD (n = 41) and PD (n = 28), 2–4 years HD (n = 111) and PD (n = 17), > 4 years HD (n = 149) and PD (n = 13). Bioimpedance analysis delivered data including overhydration (OH), Lean (LTM) and adipose lipids mass (FAT). Other measurements included daily diuresis (DD), subjective global assessment (SGA) and serum albumin (alb), C-reactive protein (CRP) and total cholesterol (TChol), and hemoglobin (Hb). Results Dialysis vintage < 2 years. Hemodialysis patients were older (65.5 ±18.5 vs. 50.9 ±17.1; p < 0.01) with a higher mortality (28 vs. 1; p < 0.01) and OH (8.0 ±4.3 vs. 1.6 ±3.1; p < 0.001). Hemoglobin (10.6 ±1.5 vs. 11.8 ±1.7; p < 0.05), TChol (180.2 ±47.0 vs. 211.7 ±46.3; p < 0.05), DD (871 ±729 vs. 1695 ±960; p < 0.001) and LTM (46.5 ±12.9 vs. 53.8 ±14.4; p < 0.05) were lower on HD. Dialysis vintage 2–4 years: when compared to PD, HD patients had higher OH (11.7 ±5.9 vs. 2.1 ±3.2; p < 0.001) and lower Hb (10.8 ±1.5 vs. 11.9 ±1.4; p < 0.01). Dialysis vintage > 4 years: compared to PD, HD patients had higher LTM (44.3 ±11.7 vs. 38.6 ±7.9; p < 0.05) and lower FAT (34.4 ±11.1 vs. 42.8 ±6.4; p < 0.01). Conclusions Dialysis patients’ body composition depends on dialysis modality and DV. Dialysis vintage < 2 years is associated with better hydration, nutritional state, and survival in PD patients, but longer DV reduces these benefits. Dialysis vintage > 4 years associated with similar hydration and mortality in both PD and HD while body composition was better on HD.

SAT0223 Soluble Semaphorin 3A and Neuropilin-1: New Markers for Dysregulation of Angiogenesis in Systemic Sclerosis?

Background Semaphorins, through interactions with their receptors- neuropilins, play critical roles in many biological processes such as the regulation of immunity, apoptosis, cell migration and angiogenesis. Systemic sclerosis (SSc) is an autoimmune disease, characterised by dysregulation of angiogenesis, leading to severe ischemia and loss of capillaries. Objectives The aim of the study was to investigate if soluble semaphorin 3A and neuropilin-1 could be involved in the dysregulation of angiogenesis in systemic sclerosis. Methods This was an investigator-initiated cross-sectional study. Serum samples obtained from 37 patients with systemic sclerosis (age 53 ± 9 years) and control serum samples obtained from 24 healthy individuals (age 51 ± 15 years) and 20 patients with Sjögrens syndrome (age 46 ± 9 years). Samples were analyzed for the presence of soluble semaphorin 3A and neuropilin-1 using enzyme-linked immunosorbent assays. The results were expressed as median and range and compared by Mann-Whitney U test. P≤0.05 were considered statistically significant. Results Serum semaphorin 3A levels were significantly higher in patients with systemic sclerosis (median 1.81 ng/mL; range 0.43–4.72 ng/mL) versus healthy controls (median 0.21 ng/mL; range 0.16–0.28 ng/mL) (p<0.001). Neuropilin-1 levels were significantly increased (median 844.26 pg/mL; range 556.80–1271.54 pg/mL) in comparison to those detected in healthy controls (median 58.60 pg/mL; range 33.75–80.00 pg/mL) (p<0.001) and patients with Sjögrens syndrome (median 278 pg/mL; range 137.50–443.70 pg/mL) (p<0.001). There was tendency to higher values of neuropilin-1 in patients with long lasting illness (Spearmans; r=0.29, p=0.075). Conclusions Our data show that semaphorin 3A and neuropilin-1 levels are significantly increased in patients with systemic scleroderma. Semaphorin 3A and neuropilin-1 may be involved in the modifications of neuro-vascular mechanisms leading to dysregulation of angiogenesis in systemic scleroderma. Disclosure of Interest None declared

Atypical location of granulomatosis with polyangiitis (Wegener's) with heart involvement--effectiveness of treatment with rituximab.

A patient at the age of 52 years, with a diagnosis of granulomatosis with polyangiitis, was admitted to the Department of Rheumatology and Rehabilitation due to disease progression. The first symptoms of the disease occurred 3 years earlier. Initially, recurrent otitis media were seen. The patient was subsequently treated in the Department of Otolaryngology. On the basis of clinical symptoms, the results of additional tests, and histopathological examination, granulomatosis with polyangiitis was diagnosed. In the process of treatment the following were used: methylprednisolone (500 mg IV pulses), prednisone (max. 50 mg/day), cyclophosphamide (600 mg IV pulses), and azathioprine (75 mg/day). Despite the treatment, disease progression was observed, as follows: central nervous system involvement with accompanying depression and cardiac involvement. Echocardiography revealed discrete hypokinesia and heterogeneous echogenicity of intraventricular septum. Magnetic resonance imaging (MRI) confirmed oval change of heart in the pericardium, infiltrating the right ventricular outflow tract, and pulmonary trunk, with dimensions of 32 × 30 × 17 mm (Fig. 1A, B). The results of laboratory tests found high levels of antibodies cANCA (79.0 RU/mL) and the presence of inflammation (ESR = 48 mm/h, CRP = 11.6 mg/L). Due to the high activity of the disease with cardiac involvement, immunosuppressive therapy was intensified — applied pulses of cyclophosphamide (600 mg IV) and glucocorticosteroids (methylprednisolone 1000 mg IV). In spite of the treatment remission was not obtained. After 2 months, in a control cardiac MRI a persistent mass (28 × 27 × 13 mm) was found in the pericardium. Therefore, it was decided to apply a biological treatment. After obtaining the approval of the Bioethics Committee of the Medical University in Poznan the patient received a total rituximab dose of 2.0 g in four divided administrations (500 mg) at 7-day intervals, while continuing treatment with glucocorticosteroids (prednisone 50 mg/day). Following the treatment achieved clinical improvement and normalisation of laboratory results (negative cANCA and absence of inflammatory markers). In the control MRI a reduction of the mass in the pericardium to the dimensions of 18 × 8 × 16 mm was observed. Another 6 months after treatment with rituximab a total reduction of the mass in the heart was observed. This case confirms that granulomatosis with polyangiitis is a systemic disease with a broad spectrum of organ involved and indicates the effectiveness of treatment with rituximab. Figure 1. A, B. Magnetic resonance: an oval change in the pericardium, infiltrating the right ventricular outflow tract and pulmonary trunk A

Serum free amino acid levels in rheumatoid arthritis according to therapy and physical disability

Background: In presented study the amino acid analysis was performed in serum derived from rheumatoid arthritis patients (RA) according to undertaken therapy and classification of physical disability. The results were compared with previously published data. Methods: The levels of 31 free amino acids were determined in 50 serum samples derived from RA subjects and 51 controls. The RA patients were divided into two groups according to the therapy (methotrexate/leflunomide, infliximab/adalimumab/etanercept/tocilizumab, prednisolone/NSAID) and classification of physical disability of the patients. Levels of amino acids were measured by LC‐MS/MS. The obtained results were subjected to multivariate statistical tests. Results: According to the therapy that was being used, threonine differentiated RA patients treated with methotrexate/leflunomide ‐ infliximab/adalimumab/etanercept/tocilizumab (p = 0.00954) and infliximab/adalimumab/etanercept/tocilizumab ‐ prednisolone/NSAID (p = 0.03109), while tryptophan differentiated RA patients treated with methotrexate/leflunomide ‐ infliximab/adalimumab/etanercept/tocilizumab (p = 0.01723). In the functional classification, arginine differentiated RA samples between class III and IV (p = 0.02332), while glycine differentiated them between class I+II and III of the Steinbrocker functional classification (p = 0.03366). Conclusions: An analysis of the metabolome profile requires the use of validated bioanalytical methods that are strictly dedicated for this purpose. The obtained results are not accidental (p value less than 0.05), and all of the selected amino acids play an important role in inflammation and immune response. It is suggested that studied amino acids can be considered as a markers for diagnosis of RA and monitoring pharmacotherapy of the disease.

The importance of hypoalbuminemiain peritoneal dialysis patients: Impact of gender

BACKGROUND High mortality in peritoneal dialysis (PD) patients is associated with the presence of nontraditional cardiovascular risk factors, such as malnutrition. However, hypoalbuminemia in patients undergoing PD may have gender-dependent consequences. OBJECTIVES The aim of the study was to evaluate the relationship between hypoalbuminemia, overhydration (OH), inflammation, and cardiovascular risk, depending on gender. MATERIAL AND METHODS The group studied consisted of 54 PD patients: 26 male (mean age: 59 ±19 years) and 28 female (mean age: 52 ±15 years) patients. Serum albumin levels were measured routinely by the hospital central laboratory. The degree of OH was assessed by bioelectrical impedance analysis (BIA). Serum concentrations of C-reactive protein (CRP) and interleukin (IL)-6 were measured as inflammatory markers. Levels of N-terminal prohormone of brain natriuretic peptide (NT-proBNP) and troponin T (TnT) were used to assess cardiovascular risk. RESULTS Median serum albumin concentration was 3.9 g/dL (3.6-4.2 g/dL). Both genders were comparable regarding most parameters except body weight (79 ±16 kg vs 67 ±16 kg; p = 0.009), but no differences were observed in body mass index (BMI) (26.3 ±5.0 kg/m2 vs 26.2 ±5.9 kg/m2; non significant (NS)). There was also no difference in the prevalence of hypoalbuminemia between female and male PD patients (23% vs 21%; NS). In females, low serum albumin concentrations were associated with OH, inflammation and cardiovascular risk, while in males serum albumin levels correlated with the parameters of dialysis and cardiovascular risk. CONCLUSIONS The impact of hypoalbuminemia may be gender-dependent. It seems that hypoalbuminemia is more important for female patients. It is also possible that different mechanisms regulate serum albumin concentration in female and male PD patients.

Results from Polish Spondyloarthritis Initiative registry (PolSPI) – methodology and data from – the first year of observation

Objectives Report on one-year results from the Polish Spondyloarthritis Initiative registry (PolSPI), containing the cross-sectional analysis of clinical and imaging data as well as database methodology. Material and methods The PolSPI registry includes patients with axial (axSpA) and peripheral (perSpA) spondyloarthritis according to ASAS classification criteria, and/or patients with ankylosing spondylitis according to modified New York criteria, psoriatic arthritis according to CASPAR criteria, arthropathy in inflammatory bowel disease, reactive arthritis, juvenile spondyloarthritis or undifferentiated spondyloarthritis. Epidemiologic data and history of signs, symptoms and treatment of spondyloarthritis are collected and assessment of disease activity is performed. Radiographic images of sacroiliac joint, cervical and lumbar spine, and results of bone densitometry are collected. Every 6 months blood samples for inflammatory markers, and for long-term storage are taken. Results During a one-year period from September 2015 to August 2016, 63 patients were registered on an electronic database; 44 (69.8%) of patients were classified as axial spondyloarthritis (axSpA) and 19 (30.2%) as peripheral spondyloarthritis (perSpA) according to ASAS criteria. Statistically significant differences between axSpA and perSpA were discovered in the percentage of HLA-B27 antigen occurrence (92.6% and 50%, respectively), BASDAI (2.8% and 4.1%, respectively), DAS 28 (2.66% and 4.03%, respectively), percentage of peripheral arthritis (20% and 88.8%, respectively), enthesitis (26.7% and 70.6%, respectively), dactylitis (6.7% and 88.9%, respectively), as well as extra-articular symptoms: acute anterior uveitis (26.7% and 5.6%, respectively) and psoriasis (6.9% and 55.6%, respectively). Patients with axSpA had significantly higher mean grade of sacroiliac involvement according to New York criteria, higher mSASSS score, and lower T-score in femoral neck in bone densitometry. Conclusions At the early stage of the disease patients with axSpA compared to those with perSpA, have more advanced structural damage of sacroiliac joints and spine, and lower bone mineral density in the femoral neck. In the upcoming years the PolSPI registry will prospectively follow-up patients with SpA, recording response to treatment and carrying out research on interaction of inflammation and bone remodelling.

The polymorphism of the ACE gene affects left ventricular hypertrophy and causes disturbances in left ventricular systolic/diastolic function in patients with autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently occurring autosomal diseases inherited in the dominant manner. Due to this, lesions in the cardiovascular system of ADPKD patients have caught the attention of clinical investigators worldwide. The aim of the study was to analyse cardiovascular complications in ADPKD patients with a focus on left ventricular hypertrophy (LVH) and selected components of its systolic/diastolic function based on echocardiography. The study was conducted on 55 patients with ADPKD (24 males, 31 females), subdivided into three groups according to the stage of chronic kidney disease (CKD). The patient group with ADPKD and ESRD (group C) manifested an increased incidence of the D allele as compared to group A and group B (χ 2 = 4.217, P = 0.04). In all ADPKD patients with the DD genotype, left ventricular mass (LVM), posterior wall thickness (PWT), and interventricular septal thickness (IVS) were significantly higher compared to patients possessing the II and ID genotypes (P < 0.02, P < 0.003, and P < 0.009, resp.). The DD genotype exists more frequently in ADPKD patients with ESRD and is associated with a higher occurrence of LVH and disturbances in systolic-diastolic function when compared to ADPKD ESRD patients with the II and ID genotypes.