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Background: Air pollution is a major risk factor for public health worldwide, but evidence linking this environmental problem with the mortality of children in Central Europe is limited. Objective: To investigate the relationship between air pollution due to the emission of industry-related particulate matter and mortality due to respiratory diseases under one year of age. Methods: A retrospective birth cohort analysis of the dataset including 2,277,585 children from all Polish counties was conducted, and the dataset was matched with 248 deaths from respiratory diseases under one year of age. Time to death during the first 365 days of life was used as a dependent variable. Harmful emission was described as total particle pollution (TPP) from industries. The survival analysis was performed using the Cox proportional hazards model for the emission of TPP at the place of residence of the mother and child, adjusted individual characteristics, demographic factors, and socioeconomic status related to the contextual level. Results: Infants born in areas with extremely high emission of TPP had a significantly higher risk of mortality due to respiratory diseases: hazard ratio (HR) = 1.781 [95% confidence interval (CI): 1.175, 2.697], p = 0.006, compared with those born in areas with the lowest emission levels. This effect was persistent when significant factors were adjusted at individual and contextual levels (HR = 1.959 [95% CI: 1.058, 3.628], p = 0.032). The increased risk of mortality was marked between the 50th and 150th days of life, coinciding with the highest exposure to TPP. Conclusions: The emission of TPP from industries is associated with mortality due to respiratory diseases under one year of age. A considerable proportion of children’s deaths could be prevented in Poland, especially in urban areas, if air pollution due to the emission of particle pollution is reduced.

Introduction: All epidemiological studies suggest that vitamin D deficiency is prevalent among the Polish general population. Since vitamin D deficiency was shown to be among the risk factors for many diseases and for all-cause mortality, concern about this problem led us to update the previous Polish recommendations. Methods: After reviewing the epidemiological evidence, case-control studies and randomized control trials (RCTs), a Polish multidisciplinary group formulated questions on the recommendations for prophylaxis and treatment of vitamin D deficiency both for the general population and for the risk groups of patients. The scientific evidence of pleiotropic effects of vitamin D as well as the results of panelists’ voting were reviewed and discussed. Thirty-four authors representing different areas of expertise prepared position statements. The consensus group, representing eight Polish/international medical societies and eight national specialist consultants, prepared the final Polish recommendations. Results: Based on networking discussions, the ranges of total serum 25-hydroxyvitamin D concentration indicating vitamin D deficiency [

Objectives Hypoparathyroidism is a rare disease in children that occurs as a result of autoimmune destruction of the parathyroid glands, a defect in parathyroid gland development or secondary to physical parathyroid gland disturbance. Typical symptoms of hypoparathyroidism present as hypocalcaemia and hyperphosphatemia due to decreased parathyroid hormone secretion and may lead to nerve and muscles disturbances resulting in clinical manifestation of tetany, arrhythmias and epilepsy. Currently, there is no conventional hormone replacement treatment for hypoparathyroidism and therapeutic approaches include normalising mineral levels using an oral calcium supplement and active forms of vitamin D. Case presentation We present the case of a 10-year-old girl with primary hypoparathyroidism who had no prior history of autoimmune disorders, but who subsequently developed systemic lupus erythematosus.

Beneficial effects of physical activity (PA) are confirmed in patients with all types of long-lasting diabetes. The possibility of PA to be a factor prolonging remission phase in children with new-onset type 1 diabetes (T1D) has not yet been thoroughly studied.The aim of the study was to elucidate the influence of regular PA on prevalence of partial remission (PR), metabolic control, daily insulin requirement (DIR), and C-peptide secretion in children newly diagnosed with T1D.A total of 125 children diagnosed with T1D were studied prospectively for 2 years. Patients were controlled every 3 months and advised with PA according to ISPAD recommendations. Anthropometric parameters, HbA1c, C-peptide level and DIR were analyzed. Patients' PA level was assessed using a self-designed questionnaire.We classified 43% of participants as physically-active. In this group, lower HbA1c after 2 years, lower DIR after 3, 6 months, and after 2 years (all P .05) were found. At discharge from hospital, the prevalence of DIR 0.5 U/kg/24 h with near normoglycemia was similar in both groups. Then, we observed higher PR prevalence in active group lasting over time and resulting in 44% vs 13% after 2 years (P .001). C-peptide after 2 years was comparable in both groups, with higher prevalence of clinically significant levels (0.2 nmoL/L) in active group: 79.6% vs 61.4% (P = .029).These data support the view that regular PA may essentially contribute to extending PR time in pediatric diabetes, and may therefore lead to a better long-term metabolic control of the disease.

The aim of this cross-sectional study was to assess the influence of simvastatin treatment in children with familial hypercholesterolemia (FH) on parameters of cellular immunity. Twenty-six children with FH were included, of which thirteen were treated with 10 mg simvastatin for at least 26 weeks, and thirteen were age- and sex-matched with a low-cholesterol diet only. Total WBC count and lipid profile were measured. Flow cytometry was used to identify lymphocyte subsets and determine the expression of adhesion molecules (AM) and toll-like receptors (TLRs) on leukocytes. No differences were found in the basic values of peripheral blood count and subpopulations of lymphocytes between groups. The percentage of granulocytes with the expression of AM was higher in those treated with statins. The TLR-2 expression on granulocytes and monocytes showed higher values, whereas the TLR-4 expression was lower on lymphocytes and granulocytes in simvastatin-treated children. Treatment with simvastatin in children with FH is not associated with alterations in the amounts of granulocytes and monocytes. There is no association between statin treatment and the pattern of peripheral blood lymphocyte subpopulations. The role of AM and TLRs needs further investigation, given the effect of statins on the innate immunity may be important for their efficacy and safety during growth.

Background: Despite numerous studies of women having children later in life, evidence of the relationship between maternal factors and newborn outcomes in Central and Eastern European countries is limited. This study aimed to examine the association between maternal age, biological determinants, including parity and sex of the newborn, demographic and social background, and birth weight in 3.8 million singleton live births in Poland. Methods: The effect of maternal age on birth weight (in grams and Z-scores) adjusted for confounders was assessed using Generalized Linear Models. Results: The mean (±SD) birth weights of neonates born to primiparous women and multiparous women were 3356.3 ± 524.9 g and 3422.7 ± 538.6 g, respectively, which corresponded to a Z-score of −0.07 ± 0.96 and 0.14 ± 1.00, respectively (p ≤ 0.001). After controlling for biological, demographic, and social factors, a significant decrease in birth weight was found for primiparous women of the age group ≥30 years and multiparous women aged ≥35 years compared to the age group of 25–29 years. The lowest neonatal birth weight was observed in the case of women aged ≥45 years. Confounders did not affect birth weight Z-scores among primiparous women, whereas among multiparous women, together with educational factors, they reversed Z-scores from positive to negative values. The lower birth weight of neonates was overall associated with lower maternal education. Conclusions: Regardless of parity, advanced maternal age is strongly associated with a decreased neonatal birth weight, implying complications in early pregnancy and the antenatal period as well as obstetric complications. Counseling to support women’s family planning decisions and improving women’s education during their reproductive age may help to alleviate unfavorable newborn outcomes.

Juvenile idiopathic arthritis (JIA), as a chronic condition, is associated with symptoms negatively impacting health-related quality of life (HRQL). Regarding growing interest in the implementation of the patient-reported outcome measures (PROMs), we aimed to review the non-disease specific PROMs addressing HRQL assessment, potentially useful in the clinical care of JIA and daily practice. A systematic literature search was conducted using MEDLINE/PubMed, Google Scholar, Scopus and Embase databases (1990 to 2021), with a focus on the recent 5-years period. Entry keywords included the terms: “children”, “adolescents”, “JIA”, “chronic diseases”, “HRQL”, “PROMs” and wordings for the specific tools. Several available PROMs intended to measure HRQL, non-specific to JIA, were identified. The presented outcomes differed in psychometric properties, yet all were feasible in assessing HRQL in healthy children and those with chronic diseases. Both EQ-5D-Y and PedsQL have already been tested in JIA, showing relevant reliability, validity, and similar efficiency as disease-specific measurements. For PROMIS® PGH-7 and PGH-7 + 2, such validation and cross-cultural adaptation need to be performed. Considering the future directions in pediatric rheumatology, the large-scale implementation of PROMIS® PGH-7 and PGH-7 + 2 in JIA offers a particularly valuable opportunity. The PROMs reflect the patient perception of the chronic disease and allow to understand child’s opinions. The PROMs may provide an important element of the holistic medical care of patients with JIA and a standardized tool for clinical outcomes, monitoring disease severity and response to treatment. Supplementary Information The online version contains supplementary material available at 10.1007/s00296-021-05077-x.

Small for gestational age (SGA) births are a significant clinical and public health issue. The objective of this review was to summarize maternal biological and socio-demographic factors and preventive strategies used to reduce the risk of SGA births. A literature search encompassing data from the last 15 years was conducted using electronic databases MEDLINE/PubMed, Google Scholar and Scopus to review risk factors and preventive strategies for SGA. Current evidence shows that primiparity, previous stillbirths, maternal age ≤24 and ≥35 years, single motherhood, low socio-economic status, smoking and cannabis use during pregnancy confer a significant risk of SGA births. Studies on alcohol consumption during pregnancy and SGA birth weight are inconclusive. Beneficial and preventive factors include the “Mediterranean diet” and dietary intake of vegetables. Periconceptional folic acid supplementation, maternal 25-hydroxyvitamin D, zinc and iron levels are partly associated with birth weight. No significant associations between COVID-19 vaccinations and birthweight are reported. A midwifery-led model based on early and extensive prenatal care reduces the risk of SGA births in women with low socio-economic status. Major preventive measures relate to the awareness of modifiable and non-modifiable risk factors of SGA, leading to changes in parents’ lifestyles. These data support that education, monitoring during pregnancy, and implementing preventive strategies are as important as biological determinants in risk reduction of SGA births.

The study was aimed to review a rare coexistence of type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA) regarding different clinical approaches to the management and treatment options. Medical complications of the two autoimmune disorders in children and adolescents have been evaluated, particularly in those treated with glucocorticosteroids (GCS) and insulin. A review of the literature regarding reports on concomitant T1D and JIA was conducted using resources available in Medline, Google Scholar, and Web of Science databases, with a specific focus on the combination of T1D and JIA in a pediatric population. The review was extended by our analysis of two patients treated in a single center for this comorbidity. Eligible reports of four cases were found, and including our two original records, a total of six pediatric patients (5 females) were analyzed, of which three had also other autoimmune diseases (thyroiditis, coeliac disease, autoimmune hepatitis), whereas four had been treated with a long-term GCS, and two were receiving biological therapy (etanercept or adalimumab). Only one of them had good metabolic control of diabetes. Diabetes in childhood may coexist with other autoimmune diseases, including rheumatologic conditions. Hyperglycemia can worsen JIA therapy by induction and maintaining inflammation. Using modern diabetes technologies (like personal insulin pumps and continuous glucose monitoring) helps to minimize the deteriorating effect of JIA exacerbations and the rheumatoid treatment on metabolic control of diabetes.

Low bone mineral density (BMD) was diagnosed in 24% of childhood cancer survivors (CCS), whereas very low BMD was relatively uncommon at 8%. We suggest that low BMD in CCS may become alleviated over time. Stem cell transplantation, radiotherapy, and underweight were the strongest independent predictors of decreased BMD. Childhood cancer survivors (CCS) are at risk of premature bone loss, although published studies are inconsistent. The objective of this study was to evaluate the prevalence and pattern of low bone mineral density (BMD) in short- and long-term CCS, and to determine clinical factors affecting skeleton after anticancer treatment. This retrospective study was conducted in a cohort of 326 children and young adult CCS (147 females) who completed anticancer treatment. BMD was determined by dual-energy X-ray absorptiometry (DXA). Low BMD was defined as a Z-score ≤ − 1.0, and the very low BMD as a Z-score ≤ − 2.0. Additionally, the changes in BMD over time were studied in 123 CCS who had been re-examined by DXA during follow-up. Median age at diagnosis was 7.27 years (range, 4.4–10.6); median time between end of treatment and DXA was 6.12 (range, 4.0–22.0). Low BMD was found in 24% of CCS, while very low BMD was relatively uncommon (8%). Based on multivariate analysis, the following were significantly associated with low BMD at the follow-up: hematopoietic stem cell transplantation (OR 3.13, 95% CI 1.02–9.63), head and neck radiotherapy (OR 2.54, 95% CI 1.32–4.90), and body weight below the standard reference (OR 3.57, 95% CI 1.24–10.23). The time-related trajectory showed an improvement (BMDLS) or stabilization (BMDTB) in Z-scores values. These data based on serial DXA measurements, encompassing a long-lasting observation period, show that CCS may not be at risk of premature bone loss in young adulthood. However, it is unknown how the scenario for skeletal mass is until the CCS will achieve older or postmenopausal age.

Purpose To evaluate the extent to which the population of Polish preadolescents is vitamin D deficient and to assess seasonal variations in vitamin D status. Participants and methods A total of 720 healthy children aged 9–13 years (409 girls, 311 boys) residing in 6 representative geographical locations in Poland were studied. A parental-assisted questionnaire provided data on nutritional habits, vitamin D supplements and sun exposure. Serum concentration of 25-hydroxyvitamin was determined twice, after the winter in March and after the summer in October. Results In March, vitamin D deficiency (25–50 nmol/L) was found in 64%, and severe deficiency (

Background: Vitamin D deficiency is reported in rheumatological diseases in adults. The aim was to evaluate the prevalence of vitamin D deficiency in children with juvenile idiopathic arthritis (JIA) and to investigate potential correlations between vitamin D status and clinical factors, laboratory traits, and medical treatment, including methotrexate (MTX) and glucocorticoids (GCs). Methods: In 189 patients aged 3–17.7 years, with JIA in the stable stage of the disease, anthropometry, clinical status, serum 25-hydroxyvitamin D [25(OH)D], calcium (Ca), phosphate (PO4), total alkaline phosphatase (ALP), erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) were assessed. Results: Median 25(OH)D level was 15.00 ng/mL, interquartile range (IQR) 12.00 ng/mL. Vitamin D deficiency was found in 67.2% and was independent of sex, disease manifestation, and CRP, ESR, ALP, or PO4 levels. Higher doses of MTX corresponded with lower 25(OH)D levels using both univariate and multivariate models (p < 0.05). No such trend was found for GCs treatment. Serum Ca was lower in patients treated with GCs (p = 0.004), MTX (p = 0.03), and combined GCs/MTX (p = 0.034). Conclusions: JIA patients are vitamin D depleted independently of disease activity or inflammatory markers. MTX therapy may be an iatrogenic factor leading to inadequate 25(OH)D levels. Vitamin D supplementation should be considered in all children with JIA, particularly those receiving long-term MTX therapy.

It is reported that alterations in protein glycosylation are present in adult rheumatic diseases; however, the data related to pediatric rheumatic conditions are very scarce. The aim of this study was to assess the effect of juvenile idiopathic arthritis (JIA) on the serum glycosylation profile of transferrin isoforms. Twenty-five patients with different clinical forms of an active JIA and 22 healthy controls were studied. Serum samples were analyzed by capillary electrophoresis on MINICAP electrophoretic system (Sebia, France) to determine the levels of transferrin isoforms. In patients with JIA, tetrasialotransferrin (median 82.6%; range 68.8–99.5) concentration was lower (P = 0.032), and pentasialotransferrin (median 14%; range 0.5–31.2) was higher (P = 0.020) in comparison to controls (median 84.45; range 79.8–87.4; median 11.55; range 9.7–16.1, respectively). No significant correlations between concentration of transferrin isoforms and disease activity score (JADAS 27) or the degree of disability (VAS and CHAQ) were found. Erythrocyte sedimentation rate and CRP levels correlated positively with disialotransferrin (R = 0.493, P = 0.017; R = 0.850, P

The aim of the study was to investigate whether salivary mineral content may be associated with bone status in women after menopause.The study group consisted of 125 postmenopausal women aged 64.3 ± 6.9 yr, derived from the epidemiological SilesiaOsteoActive Study. All participants underwent hip and spine bone densitometry using dual energy X-ray absorptiometry, dental examination, and saliva content analysis. Data for salivary pH, copper, calcium, phosphorus, and zinc concentrations were evaluated.Mean femoral neck bone mineral density (BMD) was 0.739 ± 0.118 g/cmHigh salivary calcium content and low salivary pH may be indicative of low hip and decreased spine BMD, respectively. These associations may reflect demineralization process (calcium redistribution) influencing bone, and a negative effect of acidity on mineral tissues, although causal pathway remains not clear.

Osteoarthritis (OA) is characterized by deterioration of the joints and associated with considerable pain and disability. OA is a chronic disease that requires intervention with both non-pharmacological and pharmacological treatment modalities and, inevitably, disease progression may necessitate successive treatments throughout the course of the disease. There is increasing data on the shortfalls of current pharmacological treatment of OA, and safety concerns associated with analgesic therapy use in OA arising from increasing evidence of gastrointestinal, cardiovascular, hepatic and renal adverse events with paracetamol and non-steroidal anti-inflammatory drugs (NSAIDs). Consequently, symptomatic slow-acting drugs for OA (SYSADOAs) may now be considered as a first-line treatment for knee OA, with a particular emphasis placed on the outstanding benefit: risk ratio of pharmaceutical-grade glucosamine and chondroitin sulfate formulations. In this short communication we review recent publications concerned with the safety of paracetamol, NSAIDs and SYSADOAs. Greater understanding of the benefits and limitations of current medications will lead to better disease management in OA. Furthermore, adherence to guideline recommendations across Europe and internationally, such as those from the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO), will promote evidence-based medicine and patient-centric care, ultimately leading to greater physician and patient satisfaction.

ObjectivesThe Sarcopenia Quality of Life (SarQoL) questionnaire, a sarcopenia-specific patient-reported outcome measure, evaluates quality of life with 55 items. It produces 7 domain scores and 1 overall quality of life score, all between 0 and 100 points. This study aims to contribute to the interpretation of the SarQoL scores by calculating the standard error of measurement (SEM) and smallest detectable change (SDC) in a sample of subjects from 9 studies.MethodsSubjects from 9 studies (conducted in Belgium, Brazil, Czech Republic, England, Greece, Lithuania, Poland and Spain) were included. The SEM, a measure of the error in the scores that is not due to true changes, was calculated by dividing the standard deviation of the difference between test and retest scores (SDdiff) by √2. The SDC, defined as change beyond measurement error, was calculated by multiplying SDdiff by 1.96. Bland-Altman plots were assessed for the presence of systematic errors.ResultsA total of 278 sarcopenic subjects, aged 77.67 ± 7.64 years and 61.5% women, were included. The SEM for the overall SarQoL score ranged from 0.18 to 4.20 points for the individual studies, and was 2.65 points when all subjects were analyzed together. The SDC for the overall score ranged from 0.49 to 11.65 points for the individual studies, and was 7.35 points for all subjects. The Bland-Altman plots revealed no systematic errors in the questionnaire.ConclusionThis study shows that, for individual subjects, a change in overall quality of life of at least 7.35 points (on a scale from 0 to 100) would have to be observed to confirm that a true change, beyond measurement error, has occurred. It also demonstrated that the SarQoL questionnaire is a precise instrument, with the observed scores within less than 3 points of the theoretical "true score".

Objectives The aim of this study was to determine how pediatric patients and their parents perceive health care during hospital stays, what are their expectations of doctor behaviors, and which components of care do they consider to be the most important. Methods A qualitative descriptive study was carried out using the open interview technique. Twenty-six parents and 22 children undergoing hospital treatment participated. Results Our analysis identified two major themes: (1) doctor verbal and non-verbal behaviors, which included informing and explaining, conversations on topics other than the illness, tone of voice and other behaviors; and (2) perceived strategies used by doctors. This category included claims of doctors' intentional use of medical jargon to avoid addressing parental questions directly. Parents admitted that they did not understand medical vocabulary, but they also thought they might understand more of the medical issues if the doctor spoke using terms comprehensible to them. Conlcusions Our study shows the importance of interpersonal relationship affecting patient perception of quality of pediatric care. Parents of pediatric patients perceive that doctors behave in ways that deflect parents' questions and avoid providing them with medical information. Such behaviors include doctors excusing themselves by saying they are busy and using medical jargon. Medical students and doctors should be trained to communicate effectively with patients and their parents and develop skills to convey information in a simple and comprehensible way.

The aim of this study was to evaluate levels of osteocalcin (OC), osteoprotegerin (OPG) and total soluble receptor activator of nuclear factor-&kappa, B ligand (RANKL), and bone mineral density (BMD) in patients on long-term acenocoumarol (AC) treatment. The cross-sectional study was carried out in 42 patients treated long-term with AC and 28 control subjects. Serum concentrations of OC, OPG, and sRANKL were measured using enzyme linked immunosorbent assay (ELISA) kits, and BMD at the femoral neck and lumbar spine were assessed by dual energy X-ray absorptiometry. A significantly decreased concentration of OC was found in AC users compared to control subjects (4.94 &plusmn, 2.22 vs. 10.68 &plusmn, 4.5, p &lt, 0.001). Levels of OPG, sRANKL logarithm (log), sRANKL/OPG log ratio, and BMD were comparable between. In female AC users, positive correlations between OC and RANKL log, and between OC and RANKL/OPG log ratio (p = 0.017, p = 0.005, respectively), and a negative correlation between OC and OPG (p = 0.027) were found. Long-term AC anticoagulation significantly decreases OC concentration, but does not affect other bone metabolism markers or BMD. Our results also suggest the possibility that long-term treatment with AC may alleviate bone resorption in postmenopausal women.

Recently, SarQoL&reg, (Sarcopenia and Quality of Life), a quality of life (QoL) questionnaire specific to sarcopenia, was successfully developed. For practical reasons, there is a great interest in validating this questionnaire in other populations. The aim of this cross-sectional study was to translate and adjust the SarQoL&reg, into Polish and to standardize the validity of this method for the assessment of sarcopenic individuals in Poland with regard to psychometric properties. The English version was used for the translation process. A total of 106 community-dwelling Caucasian subjects aged 73.3 &plusmn, 5.94 years (65.1% females) were studied, with 60 participants being diagnosed sarcopenic. The translation and cross-cultural adaptation was carried out in five phases according to specific standard guidelines. There were no major linguistic issues in the translation process. The data confirmed a good discriminant validity, i.e., significantly lower scores for all domains (reduced global QoL in sarcopenic subjects compared to non-sarcopenic ones, 54.9 &plusmn, 16.5 vs. 63.3 &plusmn, 17.1, p = 0.013), and high internal consistency (Cronbach&rsquo, s alpha coefficient was 0.92). The significant correlation of the SarQoL&reg, scores with those of other questionnaires (SF-36v2&reg, Health Survey and EuroQoL-5-Dimension) that are supposed to have similar dimensions indicated the consistent construct validity of the SarQoL&reg, PL questionnaire. No floor/ceiling effects were found. An excellent agreement was found between the test and the re-test (intraclass coefficient correlation (ICC): 0.99). The first Polish version of the SarQoL&reg, questionnaire is valid and consistent and therefore may be used with reliability for clinical and research purposes regarding QoL assessment of sarcopenic individuals. However, further research, in particular prospective studies, is needed to determine potential limitations and the suitability of the new tool for the Polish scenario and specificity.

Recently, SarQoL® (Sarcopenia and Quality of Life), a quality of life (QoL) questionnaire specific to sarcopenia, was successfully developed. For practical reasons, there is a great interest in validating this questionnaire in other populations. The aim of this cross-sectional study was to translate and adjust the SarQoL® into Polish and to standardize the validity of this method for the assessment of sarcopenic individuals in Poland with regard to psychometric properties. The English version was used for the translation process. A total of 106 community-dwelling Caucasian subjects aged 73.3 ± 5.94 years (65.1% females) were studied, with 60 participants being diagnosed sarcopenic. The translation and cross-cultural adaptation was carried out in five phases according to specific standard guidelines. There were no major linguistic issues in the translation process. The data confirmed a good discriminant validity, i.e., significantly lower scores for all domains (reduced global QoL in sarcopenic subjects compared to non-sarcopenic ones; 54.9 ± 16.5 vs. 63.3 ± 17.1, p = 0.013), and high internal consistency (Cronbach’s alpha coefficient was 0.92). The significant correlation of the SarQoL® scores with those of other questionnaires (SF-36v2® Health Survey and EuroQoL-5-Dimension) that are supposed to have similar dimensions indicated the consistent construct validity of the SarQoL®-PL questionnaire. No floor/ceiling effects were found. An excellent agreement was found between the test and the re-test (intraclass coefficient correlation (ICC): 0.99). The first Polish version of the SarQoL® questionnaire is valid and consistent and therefore may be used with reliability for clinical and research purposes regarding QoL assessment of sarcopenic individuals. However, further research, in particular prospective studies, is needed to determine potential limitations and the suitability of the new tool for the Polish scenario and specificity.

Дослідження, які були проведені протягом останніх двох десятиліть, розширили уявлення про роль вітаміну D у регулюванні абсорбції кальцію та фосфату і метаболізму кісток та низки плейотропних ефектів в органах і тканинах тіла. Більшість спостережних та екологічних досліджень повідомляють про зв’язок між підвищеною концентрацією 25-гідроксивітаміну D [25(OH)D] у сироватці крові з поліпшенням результатів деяких хронічних, інфекційних та неінфекційних захворювань. Отже, численні установи та наукові організації розробили керівництва щодо використання вітаміну D та рекомендації щодо оптимальних сироваткових концентрацій 25(OH)D. Згідно з рекомендаціями керівництва, орієнтованого на здоров’я кісток, цільова концентрація 25(OH)D має становити 20 нг/мл (50 нмоль/л), а дози вітаміну D – 400–800 МО залежно від віку. Рекомендації, орієнтовані на плейотропні ефекти вітаміну D, радять досягати концентрації 25(OH)D 30 нг/мл (75 нмоль/л), а дози вітаміну D мають варіюватися у діапазоні від 400 до 2000 МО на добу залежно від віку, маси тіла, стану захворювання та етнічного походження. Розумний і збалансований вибір рекомендацій зумовлений такими факторами, як стан здоров’я, вік, маса тіла, регіон проживання, харчові та культурні звички, що робить регіональні або державні рекомендації більш придатними для застосування у клінічній практиці. У той самий час як отримання вітаміну D з природних джерел, тобто раціону харчування та регіону проживання, може сприяти підвищенню концентрації 25(ОН)D у певних підгрупах, для загальної популяції ці джерела вважають неефективними для підтримання цілорічної концентрації 25(ОН)D у діапазоні 30‑50 нг/мл (75–125 нмоль/л). Побічні ефекти вітаміну D, пов’язані з його самостійним вживанням, такі, як гіперкальціємія та гіперкальціурія, виникають рідко, і, як правило, є результатом застосування надзвичайно високих доз вітаміну D протягом тривалого часу.

In the Original Publication, the e-mail address of the author Milan Petronijevic is incorrect. The correct e-mail address is milanpetronijevic@yahoo.com.

The study objective was to assess the prevalence of cardiovascular disease risk factors in patients treated for childhood cancer (N=101) and to determine the involvement of clinical (cancer type and therapy) and/or genetic (FTO gene rs9939609 polymorphism) factors. Anthropometric features, laboratory findings, and standardized osteodensitometric indices (fat and lean mass) were considered. Overweight/obesity was found in 17.82% of the patients; however, central adiposity was found in as many as 42.5%. At least one abnormality in lipid metabolism was observed in 35.6%. Densitometry revealed elevated levels of fat mass in 44.55% of the patients. None of the parameters studied were associated with the FTO gene polymorphism. Standardized waist circumference was significantly higher in patients treated for leukemia than those treated for solid tumors (p=0.04). Our findings indicate a high rate of central adiposity among childhood cancer survivors, especially leukemia patients. The prevalence of risk factors of cardiovascular disease after anticancer therapy is not FTO gene polymorphism-dependent.

Introduction During the last years, changes in the diagnosis and treatment have caused a significant increase of the number of young adults who experienced cancer in childhood. This enlarging population is affected by many health problems, including multiple hormone deficiencies and bone mineral deficits. This is the first polish study assessing bone mineral density and endocrine status in young adult cancer survivors. Material and methods A total of 76 long-term survivors treated for pediatric cancer were identified. The mean age at the time of study was 24.1 ±3.5 years. Bone mineral density and TSH, fT3, fT4, FSH, LH, estradiol and testosterone level were assessed for each patient. Results Nine subjects were diagnosed with subclinical hypothyroidism. We found higher level of TSH in the study group, in comparison with control group (p = 0.015). Eighteen patients had increased level of FSH. In the study group higher number of patients with high FSH level was found in comparison with the control group (p = 0.049). A low BMD was observed in 7 patients whereas mild BMD deficits were found in 19 participants. Conclusions In conclusion, our data show that young adult cancer survivors might experienced various hormonal problems including low bone mass, thyroid impairment and gonadal dysfunction. Some of the patients required treatment, but they were not diagnosed before this study. There is the lack of proper clinical assessment among adult childhood cancer survivors in Poland. Therefore, we demonstrated the need for a comprehensive plan for longitudinal follow-up for late effects in these population.

We present a natural history of a 32-year-old man with Hajdu-Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH2 (c.6424-6427delTCTG, p.Ser2142ArgfsX4), who has been followed up for a period of 23 years (between 9 and 32 years). During follow-up, we observed abnormalities of vision, hearing, voice, and progression of craniofacial features in the form of skeletal dysplasia with affected skull, dentition, spine, limbs, fingers, and toes. Low bone mineral density and history of fragility fractures also suggested primary osteoporosis being a clinical manifestation. According to Stengel-Rutkowski, Schimanek, and Wernheimer (1984; Human Genetics, 6, 272-295), systematic data acquisition has been used for quantitative analysis of anthropological, radiographic, and clinical features at childhood, adolescence, and young adulthood separately. A detailed phenotype description together with the results of reanalysis of 14 reports so far published on patients with HJCYS and NOTCH2 mutation showed similar phenotype evolution with age. The spectrum of observed features may improve diagnostic tools for HJCYS at different periods of the lifespan.

Perhaps the role of Vitamin D supplementation has been most exhaustively studied in calcium absorption, skeletal wellbeing, muscular potency, balance and risk of falling. Nonetheless, new data has emerged and the recent research on sarcopenia makes the topic increasingly interesting. Given the socioeconomic burden of the musculoskeletal consequences of hypovitaminosis D it is vital to keep abreast with the latest literature in the field. The recommended Vitamin D supplementation dose should suffice to increase the serum 25 hydroxyvitamin D level to 30 ng/mL (75 nmol/L) and this level should be optimally maintained with a maintenance dose, particularly for those diagnosed with osteoporosis.