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Introduction: Tyrosine kinase inhibitors (TKIs) have greatly improved the treatment outcome for most patients with chronic myeloid leukemia (CML). Ponatinib is a new pan-inhibitor of TK active in resistant CML. This study aimed to evaluate the efficacy and safety of ponatinib in patients suffering from CML., Patients and Methods: This multicenter, non-randomized, observational, retrospective study evaluated the efficacy and safety of ponatinib administered in adult CML patients in any disease phase, including those with a detected ABL T315I mutation, which were resistant or intolerant to previous-generation TKIs. The study comprised 43 patients benefiting from the ponatinib donation program who were treated in 16 Polish centers., Results: For patients who started treatment with ponatinib in chronic phase (CP) (n = 23) and in accelerated phase (AP) (n = 3) the median time on ponatinib was 19.5 months (range: 1.0-35.4), and 31.7 months (range: 31.0-34.1), respectively. All these patients were in CP after 1 month of treatment and at the end of observation - none of them progressed to AP or blastic phase (BP) during the study, meaning that progression-free survival was 100% at the end of observation (35.4 months). The estimated 2-year survival in this group of patients was 84%. For all 43 patients, median survival was not reached (lower quartile 6.3 months), and estimated 2-year survival was 60%., Conclusion: Our analysis confirmed ponatinib efficacy in a significant proportion of patients heavily pre-treated with TKIs achieving durable responses in both CP and AP/BP CML groups., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: In patients with Duchenne Muscular Dystrophy (DMD), the respiratory system determines the quality and length of life; therefore, the search for easy and safe everyday monitoring of the pulmonary function is currently extremely important, particularly in the COVID-19 pandemic. The aim of the study was to evaluate the influence of a three-month home electronic spirometry (e-spirometry) monitoring of the pulmonary function and strength of respiratory muscles as well as the patients' benefits from this telemetric program., Methods: Twenty-one boys with DMD (aged 7-22; non-ambulatory-11) received a remote electronic spirometer for home use with a special application dedicated for patients and connected with a doctor platform. Control of the hospital spirometry (forced vital capacity-FVC, forced expiratory volume in 1 second-FEV1, peak expiratory flow-PEF) and respiratory muscle strength (maximal inspiratory-MIP and expiratory pressures-MEP) before and after the three-month monitoring were performed as well telemonitoring benefit survey., Results: A total of 1403 measurements were performed; 15 of the participants were able to achieve correct attempts. There were no differences between the hospital and the home spirometry results as well as between respiratory muscle strength during v1 vs. v2 visits for the whole study group (all parameters p > 0.05); the six participants achieved increased value of FVC during the study period. There was a positive correlation between ΔFVC and the number of assessments during the home spirometry (r = 0.7, p < 0.001). Differences between FVC and MIP cmH2O (r = 0.58; p = 0.01), MEP cmH2O (r = 0.75; p < 0.001) was revealed. The mean general satisfaction rating of the telemonitoring was 4.46/5 (SD 0.66) after one month and 4.91/5 (SD 0.28) after three months. The most reported benefit of the home monitoring was the improvement in breathing (38% of participants after one month, 52% after three months of telemonitoring). Forgetting about the procedures was the most common reason for irregular measurements; the participants reported also increased motivation but less time to perform tests., Conclusions: The study indicates high compliance of the home telemonitoring results with the examination in the hospital. Benefits from home spirometry were visible for all participants; the most important benefit was breathing improvement. The remote home spirometry is usable for everyday monitoring of the pulmonary function in DMD patients as well can be also treated as respiratory muscle training.

The molecular mechanism that regulates iron homeostasis is based on a network of signals, which reflect on the iron requirements of the body. HFE-related hemochromatosis is characterized by excessive intestinal absorption of dietary iron, in particular cases resulting in pathologically high iron storage in tissues and organs. During childhood, HFE gene homozygosity or heterozygosity manifests exclusively in the form of biochemical abnormalities. Because of their mutual link, bioavailable iron and endogenous erythropoietin (EPO) are indispensable for effective erythropoiesis. We analyzed the impact of p.(His63Asp) polymorphism of the HFE gene on erythropoiesis taking into consideration endogenous EPO production in the developmental age. In the study we performed, we observed a significant, strong and negative correlation between the concentration of EPO, hemoglobin, and red blood cell count. A negative trend was also noted on the impact of iron concentration and transferrin saturation on EPO production. In conclusion, this preliminary study demonstrates an impaired impact of endogenous EPO on erythropoiesis in the presence of increased iron content in carriers of p.(His63Asp) (heterozygotes) variant of the HFE gene in developmental age., Competing Interests: The authors declare no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Patients with Duchenne muscular dystrophy (DMD) may be at higher risk of a severe course of COVID-19. The aim of the study was to evaluate: (1) the incidence and course of COVID-19 infection in DMD patients; (2) the vaccination status of DMD patients; and (3) COVID-19 related anxiety among DMD families. Materials and Methods: The study was conducted during an online symposium for DMD patients and their families. All participants (DMD families; n = 150) were asked to fill in the online survey with questions about COVID-19 infection history, vaccination against SARS-CoV-2 and anxiety during pandemic. Results: 53 DMD patients filled in the survey. Five (9.43%) were COVID-19 positive with mild symptoms of respiratory infection and anosmia; 23 (42.6%) were vaccinated, but in almost 20% of DMD families, none of the family members was vaccinated. Respondents revealed anxiety related both to the vaccination procedure and to COVID-19 infection (complications after infection 93.6%, death 62.4% respondents). Changes in health care system organization also aroused concern among participants (85.3%). Conclusion: The course of the COVID-19 infection in DMD patients was mild. Not enough patients with DMD and their families are vaccinated. Education about the management of COVID-19 infections and the vaccination procedure for DMD patients is needed and expected.

Background: Duchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. Pulmonary function is crucial for duration of life in this disease. Currently, the European Respiratory Society is focused on digital health, seeking innovations that will be realistic for digital respiratory medicine to support professionals and patients during the COVID-19 pandemic., Aims: The aim of this study was to investigate whether it is possible to monitor pulmonary function at home using an individual electronic spirometry system in boys with Duchenne muscular dystrophy., Materials and Methods: In this observational, prospective study, conducted from March 2021 to June 2021, twenty boys with DMD (aged 8-16) were enrolled. The patients were recruited from the Rare Disease Centre, University Clinical Centre, of Gdańsk, Poland. Medical history and anthropometric data were collected, and spirometry (Jaeger, Germany) was performed in all patients at the start of the study. Each patient received an electronic individual spirometer (AioCare) and was asked to perform spirometry on their own every day, morning and evening, at home for a period of 4 weeks. The number of measurements, correctness of performing measurements, forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), and peak expiratory flow (PEF) were evaluated., Results: Finally, 14 out of 20 boys enrolled in the study with a mean age of 12.5 years (7 non-ambulatory) applied and received a home spirometer (AioCare). A total of 283 measurements were performed by all patients at home for 4 weeks. Half of the patients were able to perform measurements correctly. There were no significant differences between mean values of FVC, FE1, PEF between home and hospital spirometry ( p > 0.05) expect PEF pv% ( p < 0.00046). Patients with higher FEV1 ( p = 0.0387) and lower BMI ( p = 0.0494) were more likely to take home spirometer measurements. The mean general satisfaction rating of home-spirometry was 4.33/5 (SD 0.78), the mean intelligibility rating was 4.83/5 (SD 0.58). Reasons for irregular measurements were: forgetting (43%), lack of motivation (29%), difficulty (14%), lack of time (14%)., Conclusion: Home electronic monitoring of pulmonary function in patients with DMD is possible to implement in daily routines at home. This protocol should be introduced as early as possible in patients 7-8 years old with good, preserved lung function. Patients accept this form of medical care but require more education about the benefits of e-monitoring. There is a need to implement a system to remind patients of the use of electronic medical devices at home, e.g., via SMS (short message service).

Introduction: Allergen-specific immunotherapy (AIT) is the core treatment in allergic rhinitis and asthma. Although widely used, some patients do not benefit from treatment and there is no efficacy objective marker., Aim: To define the profile of gene transcripts during the build-up phase of AIT and their comparison to the control group and then search for a viable efficacy marker in relation to patient symptoms., Material and Methods: AIT was administered in 22 patients allergic to grass pollen. Analysis of 15 selected transcript expression was performed in whole blood samples taken before AIT (sample A) and after reaching the maintenance dose (sample B). The control group included 25 healthy volunteers (sample C). The primary endpoint was Relative Quantification. The gene expression analysis was followed by clinical evaluation with the use of Allergy Control Score (ACS)., Results: Comparison between samples A and B of gene expression showed a significant increase in IFNG expression ( p = 0.03). In relation to the control group, pretreatment samples from patients showed higher levels of AFAP1L1 ( p = 0.006), COMMD8 ( p = 0.001), PIK3CD ( p = 0.027) and TWIST2 ( p = 0.0003) in univariate analysis. A generalized linear regression model was built according to the Bayesian Information Criterion based on the IFNG, FCER1A and PCDHB10 expression pattern for prediction of the AIT outcome. The model showed a correlation in predicted and observed changes in ACS., Conclusions: There is a significant change in the expression of IFNG during the build-up phase of AIT. The authors propose an in vitro model of AIT efficacy prediction for further validation., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2021 Termedia Sp. z o. o.)

The all consequences of tobacco smoking on the lungs and kidney function in kidney transplant recipients are unknown. We investigate the impact of tobacco smoking on lung and kidney functions in kidney transplantation recipients., Methods: Finally, 55 patients were evaluated after kidney transplantation (age 50.8±13.4). Pulmonary function was performed using spirometer Pneumo Screen; anthropometry with body composition using electronic scale, dynamometer, and multi-frequency bioimpedance analysis. Biochemical parameters were measured in serum, eGFR was calculated according to the CKD-EPI formula., Results: Smoking history was reported by 23 kidney transplant recipients (42%); among them 12 (22%) were current smokers (mean pack-years=28.3±15.2). There were significant differences of spirometry parameters (FEV1, FEV1/FVC, MMEF% predictive value) between non-smokers vs active smokers (p<0.003; p<0.005; p<0.04; respectively). Current smokers presented significantly lower eGFR and higher IL-6 serum levels compare to both-past smokers and non-smokers (p<0.02; p<0.04 respectively), the other biochemical parameters did not differ between these groups. The pack-years positively correlated with MRC dyspnoe scale and triglycerides, and negatively with HDL cholesterol levels., Conclusions: Active tobacco smoking was relatively common in kidney transplant recipients and was associated with poorer pulmonary function, systemic inflammation, and its possible impact on kidney graft. Other parameters of inflammation associated with renal function should be studied in active smokers before and after kidney transplantation. Effective smoking cessation programs are required in patients before and after kidney transplantation.

Chicken meat is often a major component of a modern diet. Allergy to chicken meat is relatively rare and occurs independently or in subjects allergic to ovalbumin (OVA). We examined the effect of adoptive transfer of OVA-CD4 + T cells on the immune response to OVA in mice fed chicken meat. Donor mice were injected intraperitoneally with 100 µg of OVA with Freund's adjuvant two times over a week, and CD4 + T cells were isolated from them and transferred to naïve mice (CD4 + /OVA/ChM group), which were then provoked with OVA with FA and fed freeze-dried chicken meat for 14 days. The mice injected with OVA and fed chicken meat (OVA/ChM group), and sensitized (OVA group) and healthy (PBS group) mice served as controls. Humoral and cellular response to OVA was monitored over the study. The CD4 + /OVA/ChM group had lowered levels of anti-OVA IgG and IgA, and total IgE. There were significant differences in CD4 + , CD4 + CD25 + , and CD4 + CD25 + Foxp3 + T cells between groups. OVA stimulation decreased the splenocyte proliferation index and IFN-γ secretion in the CD4 + /OVA/ChM group compared to the OVA group. IL-4 was increased in the OVA/ChM mice, which confirms allergenic potential of the egg-meat protein combination. Transfer of OVA-experienced CD4 + T cells ameliorated the negative immune response to OVA.

Background: The COVID-19 pandemic forced reorganization of the multidisciplinary healthcare system for Duchenne muscular dystrophy. Digital solutions seem to be optimal for providing rehabilitation at this time. The aim of this study was to investigate whether it is possible to conduct respiratory physical therapy with the use of telerehabilitation in Duchenne muscular dystrophy., Methods: The study was conducted during an online conference for families with DMD. During the physical therapy panel we showed the video with the instructions of respiratory exercises. All participants ( n = 152) were asked to fill in the online survey evaluating the quality, acceptance, and understanding of the instructions., Results: The survey was filled in by 45 (29.6%) participants. The mean rating of satisfaction was 4.70/5, and for intelligibility was 4.78/5. Thirty-seven (82.2%) patients declared that they had performed the exercises, all caregivers declared that it was possible to perform the proposed exercises a few times a week or daily, and only two respondents replied to invitations to individual online sessions., Conclusions: Findings from the study show that respiratory telerehabilitation may be implemented for DMD patients; however, the interest in digital rehabilitation among caregivers of DMD boys in Poland is low. The reasons for this situation require further research.

During the so-called "second wave of the pandemic" in Europe, the authors conducted a cross-sectional online survey that aimed to examine changes in dietary habits and associated practices, as well as physical activity during the COVID-19 pandemic and before the onset of lockdowns in three European countries: Poland, Austria and the United Kingdom., Methods: The online observational study, both prospective and retrospective, conducted with the use of social media for the distribution of an anonymous online questionnaire, was completed from 1 October to 30 October 2020, during the second wave of the pandemic in Europe. The study encompassed a total of 1071 adults from Poland ( n = 407), Austria ( n = 353) and the United Kingdom ( n = 311)., Results: The results of this study indicate that the COVID-19 confinement period influenced eating behavior and the level of physical activity in a group of adult residents of Poland, Austria and the United Kingdom. The general shopping frequency decreased, regardless of the place and manner. However, there was an increased interest in online grocery shopping. The resulting data revealed an increased frequency of the daily consumption of food products such as dairy, grains, fats, vegetables and sweets ( p < 0.05). A rise in the frequency of purchasing frozen goods and food with long shelf life has also been observed. The changed workplace and working conditions or unemployment probably affected a perceptible rise in alcohol consumption ( p = 0.02). In turn, physical activity levels markedly decreased, which reflected the body mass changes., Conclusion: The dietary habits in the studied countries have changed as a result of the pandemic situation. They contribute to the aggravation of the problem of excess body weight and its health consequences.

The presence of various proteins, including modified ones, in food which exhibit diverse immunogenic and sensitizing properties increases the difficulty of predicting host immune responses. Still, there is a lack of sufficiently reliable and comparable data and research models describing allergens in dietary matrices. The aim of the study was to estimate the immunomodulatory effects of β-lactoglobulin (β-lg) in comparison to those elicited by κ-casein (κ-CN), in vivo and ex vivo, using naïve splenocytes and a mouse sensitization model. Our results revealed that the humoral and cellular responses triggered by β-lg and κ-CN were of diverse magnitudes and showed different dynamics in the induction of control mechanisms. β-Lg turned out to be more immunogenic and induced a more dominant Th1 response than κ-CN, which triggered a significantly higher IgE response. For both proteins, CD4 + lymphocyte profiles correlated with CD4 + CD25 + and CD4 + CD25 + Foxp3 + T cells induction and interleukin 10 secretion, but β-lg induced more CD4 + CD25 + Foxp3 - Tregs. Moreover, ex vivo studies showed the risk of interaction of immune responses to different milk proteins, which may exacerbate allergy, especially the one caused by β-lg. In conclusion, the applied model of in vivo and ex vivo exposure to β-lg and κ-CN showed significant differences in immunoreactivity of the tested proteins (κ-CN demonstrated stronger allergenic potential than β-lg), and may be useful for the estimation of allergenic potential of various food proteins, including those modified in technological processes.

There is no effective therapy for milk allergy. The role of lactic acid bacteria (LAB) and probiotics in protection against allergy-related outcomes is still under investigation. The aim of the study was to evaluate the immunomodulative and therapeutic potential of yogurt drinks in cow's milk allergy (CMA) management. We compared immunoreactivity of α-casein (α-CN), β-casein (β-CN), κ-casein (κ-CN), α-lactalbumin (α-LA), and β-lactoglobulin (β-LG) in 27 yogurt drinks fermented with different basic yogurt cultures, or yogurt cultures enriched with Lactobacillus plantarum and/or Bifidobacterium lactis strains, by competitive ELISA assay. Drinks with the lowest antigenic potential were used as allergoids for CMA therapy. BALB/c mice were sensitized via intraperitoneal injection of α-CN + β-LG mixture with aluminum adjuvant, and gavaged with increasing doses of selected low-immunogenic drinks (YM-basic, or YM-LB-enriched with L. plantarum and B. lactis ) to induce tolerance. Milk- or phosphate-buffered saline (PBS)-dosed mice served as controls. Compared to milk, the immunoreactivity of proteins in drinks increased or decreased, depending on the bacterial sets applied for fermentation. Only a few sets acted synergistically in reducing immunoreactivity. The selected low-immunogenic drinks stimulated allergic mice for profiling Th2 to Th1 response and acquire tolerance, and the effect was greater with YM-LB drink, which during long-lasting interventional feeding strongly increased the secretion of regulatory cytokines, i.e., IL-10 and TGF-β, and IgA and decreased IL-4, IgE, and anti-(α-CN + β-LG) IgG 1 . The studies revealed variations in the potency of yogurt bacteria to change allergenicity of milk proteins and the need for their strict selection to obtain a safe product for allergy sufferers. The YM-LB drink with reduced antigenic potential may be a source of allergoids used in the immunotherapy of IgE mediated CMA, but further clinical or volunteer studies are required.

Recently, progress has been observed in the knowledge about Duchenne Muscular Dystrophy (DMD), which is a severe and commonly diagnosed genetic myopathy in childhood, historically resulting in early death. Currently, there are a lot of methods available to improve the clinical course of DMD and extend patients' life expectancy to more than 30 years of age. The key issue for DMD patients is the period between 16-18 years of age, which is described as a transition from pediatric- to adult-oriented healthcare. Adolescents and adults with DMD have highly complex healthcare needs associated with long-term steroid usage, orthopedic, ventilation, cardiac, and gastrointestinal problems. The current paper provides a comprehensive overview of special healthcare needs related to the transfer of a patient with DMD from child-oriented to adult-oriented care. Additionally, the need to organize effective care for adults with DMD is presented.

Background and objective : Allergy belongs to a group of mast cell-related disorders and is one of the most common diseases of childhood. It was shown that asthma and allergic rhinitis diminish the risk of various cancers, including colon cancer and acute lymphoblastic leukemia. On the other hand, asthma augments the risk of lung cancer and an increased risk of breast cancer in patients with allergy has been observed. Thus, the relation between allergy and cancer is not straightforward and furthermore, its biological mechanism is unknown. The HTRA (high temperature requirement A) proteases promote apoptosis, may function as tumor suppressors and HTRA1 is known to be released by mast cells. Interleukin-12 (Il-12) is an important cytokine that induces antitumor immune responses and is produced mainly by dendritic cells that co-localize with mast cells in superficial organs. Material and methods : In the present study we have assessed with ELISA plasma levels of the HTRA proteins, Il-12, and of the anti-HTRA autoantibodies in children with allergy (40) and in age matched controls (39). Children are a special population, since they usually do not have comorbidities and take not many drugs the processes we want to observe are not influenced by many other factors. Results : We have found a significant increase of HTRA1, 2 and 3, and of the Il-12 levels in the children with atopy (asthma and allergic rhinitis) compared to controls. Conclusion : Our results suggest that the HTRA1-3 and Il-12 levels might be useful in analyzing the pro- and antioncogenic potential in young atopic patients.

Methods: In the study, we included 86 children diagnosed with atopic asthma ( n = 25), allergic rhinitis ( n = 20), and atopic dermatitis ( n = 20) and healthy control subjects ( n = 21) of Caucasian origin from the Polish population. The blood leukocyte expression of 31 genes involved in neuroinflammatory response (neurotrophins, their receptors, neuropeptides, and histamine signaling pathway) was analysed using TaqMan low-density arrays. The relative expression of selected proteins from plasma was done using TaqMan Protein Assays. Statistical analysis was done using Statistica., Results: Blood expression of 31 genes related to neuroimmune interactions showed significant increase in both allergic diseases, allergic rhinitis and atopic dermatitis, in comparison to the control group. We found 12 genes significantly increased in allergic rhinitis and 9 genes in which the expression was elevated in atopic dermatitis. Moreover, 9 genes with changed expression in atopic dermatitis overlapped with those in allergic rhinitis. Atopic asthma showed 5 genes with altered expression. The peripheral expression of neuroinflammatory genes in the human study was verified in target tissues (nasal epithelium and skin) in a rat model of allergic inflammation., Conclusions: A common pattern of neuroinflammatory gene expression between allergic rhinitis and atopic dermatitis may reflect similar changes in sensory nerve function during chronic allergic inflammation., Competing Interests: The authors declare that there is no conflict of interest regarding the publication of this paper., (Copyright © 2020 Paulina Sobkowiak et al.)

Background: The rising trend in allergic diseases has developed in parallel with the increasing prevalence of obesity, suggesting a possible association. The links between eating habits and allergies have not been sufficiently clarified., Aim: To evaluate the nutritional status, eating habits, and risk factors of obesity and pulmonary function in children with allergic rhinitis., Materials and Methods: We evaluated 106 children with allergic rhinitis (mean age 12.1 ± 3.4 years; M/F 60/46) from the Department of Allergology. Clinical data were collected regarding allergies, physical activity, nutritional status (Bodystat), dietary habits (Food Frequency Questionnaire validated for the Polish population), skin prick test with aeroallergens (Allergopharma), and spirometry (Jaeger)., Results: All children suffered from allergic rhinitis; among them, 43 (40.6%) presented symptoms of asthma. There were differences between children with only allergic rhinitis (AR group) and children with both rhinitis and asthma (AA group) in pulmonary function (forced expiratory volume in one second (FEV 1 ) 100 ± 11 vs. 92.1 ± 15.0; p < 0.05). A total of 84 children (79%) presented a normal body mass index (BMI) (10-97 percentile), 8 (7.5%) were underweight, and 14 (13.5%) were overweight or obese. There were no differences in body composition between the AR and AA groups. Incorrect eating habits were demonstrated by most of the children, e.g., consumption of three or fewer meals in a day (38%), sweets every day (44%), snacking between meals every day (80%), and eating meals less than 1 h before bedtime (47%). Compared to the AR group, the AA group was more likely to eat more meals a day ( p = 0.04), snack more often ( p = 0.04), and eat before sleeping ( p = 0.005). Multiple regression analysis showed a significant association between high BMI and snacking between meals and low physical activity (adjusted R 2 = 0.97; p < 0.05)., Conclusions: The risk factors for obesity in children with allergies include snacking and low physical activity. Most children with respiratory allergies, especially those with asthma, reported incorrect eating habits such as snacking and eating before bedtime. A correlation between pulmonary function and body composition or dietary habits was not found.

Green pea ( Pisum sativum ) is a component of European cuisine; however, an estimated 0.8% of Europeans suffer from allergies to pea proteins. We examined the immunoreactive potential of pea albumins (PA) in BALB/c and C57BL/6 mice. Mice were orally gavaged with PA or glycated pea albumins (G-PA) for 10 consecutive days, in combination with an adjuvant. Both PA and G-PA increased PA-specific serum antibody titers to about 2 12 for anti-PA IgG, ∼2 7 for anti-PA IgA, and ∼2 7.8 for anti-PA IgA in fecal extracts ( p < 0.001). On day 42 postexposure, the antibodies titers decreased and were greater in BALB/c compared to C57BL/6 mice ( p < 0.05). Distribution of CD4 + and CD8 + T cells in lymphoid tissues presented strain-specific differences. PA was found to induce lymphocyte proliferation; however, G-PA did not. Both PA and G-PA changed CD4 + and CD8 + T cells percentages in some lymphoid tissues; however, this did not impact cytokines production by splenocyte cultures evidenced by the stimulation of Th1, Th2, and Th17 cells. The observed immunomodulatory properties of PA and G-PA and lack of a sign of allergic reaction render them suitable for supplements in personalized diets, but further research is needed to precisely understand this activity.

Introduction: Allergen specific immunotherapy (AIT) is the only treatment modifying the course of the disease in patients allergic to airborne allergens. It has been proven to be effective in allergic populations, however individual patients vary in terms of response to the therapy., Aim: To assess the factors that might affect the efficacy of AIT., Material and Methods: Patients treated with AIT for grass pollen or house dust mites were included. The efficacy of AIT was assessed with the use of Allergy Control Score (ACS), performed before and at least 1 year after AIT. The following variables were assessed as potential risk factors for a worse response to AIT: age, gender, type of allergy, type of allergen, type of vaccine, type of AIT and smoking history., Results: The study group consisted of 145 subjects.AIT was effective in the entire group; the mean ACS results decreased from 21.14 to 14.41 points ( p < 0.0001). No differences in efficacy in terms of assessed risk factors were found, except for smoking history (ACS change in the smoking group was smaller: from 21.8 to 18.1 points; p = 0.09, OR = 0.323; 95% CI: 0.11-0.88; p = 0.02)., Conclusions: Smoking history may affect AIT outcomes., (Copyright © 2019 Termedia.)

The incidence of allergic diseases has been increasing in recent decades, and currently, nearly 30% of the European population suffer from some type of allergy. Also, an increasing number of people are suffering from infertility. Both diseases are related to the hormonal and immune systems, which prompts the question as to whether there is a causal relationship between allergic disorders and the reproductive system. The purpose of this review is to evaluate whether there is a link between allergic diseases and infertility, using the available literature., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2019 Termedia Sp. z o. o.)

Competing Interests: The authors declare no conflict of interest.

Childhood leukaemia survivors (CLS) are known to have developed long-term impairment of lung function. The reasons for that complication are only partially known. The aims of this study were to assess pulmonary function in CLS and identify (1) risk factors and (2) clinical manifestations for the impairment of airflow and lung diffusion. The study group included 74 CLS: 46 treated with chemotherapy alone (HSCT-), 28 with chemotherapy and haematopoietic stem cell transplantation (HSCT+), and 84 healthy subjects (control group (CG)). Spirometry and diffusion limit of carbon monoxide (DLCO) tests were performed in all subjects. Ten (14%) survivors had restrictive, five (7%) had obstructive pattern, and 47 (66%) had reduced DLCO. The age at diagnosis, type of transplant, and type of conditioning regimen did not significantly affect the pulmonary function tests. The DLCO%pv were lower in CLS than in CG (p < 0.03) and in the HSCT+ than in the HSCT- survivors (p < 0.05). The pulmonary infection increased the risk of diffusion impairment (OR 5.1, CI 1.16-22.9, p = 0.019). DLCO was reduced in survivors who experienced CMV lung infection (p < 0.001). The main symptom of impaired lung diffusion was poor tolerance of exercise (p < 0.005). The lower lung diffusion capacity is the most frequent abnormality in CLS. HSCT and pulmonary infection, in particular with CMV infection, are strong risk factors for impairment of lung diffusion capacity in CLS. Clinical manifestation of DLCO impairment is poor exercise tolerance. A screening for respiratory abnormalities in CLS seems to be of significant importance.

The role of mast cell (MC) activity in pathophysiology is complex and challenging and its clinical effects are difficult to predict. Apart from the known role of MCs in basic immunological processes and allergy, underlined is their importance in bone mineralization and in regulation of autoimmune reactions. Mast cell mediators, especially those released from mast cells in degranulation, but also those released constitutively, are important both in metabolic and immunological processes. Mastocytosis is a heterogeneous group of disorders characterized by accumulation of MC in one or more organs. There are scientific data indicating that mastocytosis patients are at increased risk of osteoporosis in the systemic form of the disease and children with cutaneous mastocytosis have a higher rate of hypogammaglobulinemia. Moreover, the origin of osteoporosis in patients with allergy is no longer considered as linked to steroid therapy only, but to the mast cell mediators' activity as well. There are indications that osteoporosis symptoms in this group of patients may develop independently of the cumulative steroids' dose. Thus, the influence of mast cells on metabolic and immunologic processes in allergic patients should be investigated. The assessment of mast cell activity and burden in mastocytosis may be used to guide clinical management of patients with allergy., (Copyright © 2018. Published by Elsevier B.V.)

Atypical chronic myeloid leukaemia (aCML) belongs to myelodysplastic/myeloproliferative neoplasms. Because of its rarity and changing diagnostic criteria throughout subsequent classifications, data on aCML are very scarce. Therefore, we at the Polish Adult Leukemia Group performed a nationwide survey on aCML. Eleven biggest Polish centres participated in the study. Altogether, 45 patients were reported, among whom only 18 patients (40%) fulfilled diagnostic criteria. Among misdiagnosed patients, myelodysplastic/myeloproliferative syndrome unclassifiable and chronic myelomonocytic leukaemia were the most frequent diagnoses. Thirteen patients were male, median age 64.6 years (range 40.4-80.9). The median parameters at diagnosis were as follows: white blood cell count 97 × 10 9 /L (23.8-342) with immature progenitors amounting at 27.5% (12-72), haemoglobin 8.6 g/dL (3.9-14.9), and platelet count 66 × 10 9 /L (34-833). Cytoreductive treatment was used in all patients, and 2 patients underwent allogeneic hematopoietic stem cell transplantation. The median overall survival was 14.1 months (95% CI, 7.2), with median acute myeloid leukaemia-free survival of 13.3 months (95% CI, 3.6-22.6). Cumulative incidence of acute myeloid leukaemia transformation after 1 year in aCML group was 12.5% (95% CI, 0%-29.6%). To conclude, aCML harbours a poor prognosis. Treatment options are limited, with allogeneic hematopoietic stem cell transplantation being the only curative method at present, although only a minority of patients are transplant eligible. Educational measures are needed to improve the quality of diagnoses., (Copyright © 2018 John Wiley & Sons, Ltd.)

Background and Aim: Interleukin-1 is a pro-inflammatory cytokine found in two forms (α and β). The α form is mainly cell-bound, whereas IL-1β is primarily secreted by macrophages in response to immune system stimulation. We hypothesized that polymorphic variants of interleukin 1 genes may play a role in childhood asthma risk. The aim of this study was to investigate if IL-1α and β polymorphism is associated with asthma in a pediatric population and if the genotype affects its serum level., Methods: The studied population included 310 children aged 6-18 years old (152 with asthma and 158 healthy children). Genotypes were determined with real-time PCR method using TaqMan Genotyping Assays. Serum level was measured with ELISA Set. Statistical analysis was done in Statistica v.12.0. Linkage disequilibrium and haplotype analysis was done in Haploview v. 4.2., Results: We found that three IL-1β polymorphisms rs1143634, rs1143633, and rs1143643 were associated with allergic asthma risk (P = 0.034; OR = 1.523; P = 0.024, OR = 1.477; 0.044, OR = 1.420, respectively). We also found a strong linkage disequilibrium between these polymorphisms and CAC haplotype was associated significantly with asthma risk (P = 0.023). For IL1α, we did not observe association with asthma. We then analyzed if IL-1β expression was altered in serum and we found that asthmatic children showed significantly higher IL-1β levels than healthy controls (P = 0.047). No association with asthma was observed for IL-1 α variants., Conclusions: This study indicates that IL-1β gene polymorphism may affect allergic asthma risk in children., (© 2017 Wiley Periodicals, Inc.)

Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal changes. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM&#95;021625.4:c.1781G > A - p.(Arg594His) in exon 11 of the TRPV4 gene. We have documented abnormalities in endochondral formation of the long and short tubular bones as well as round bones of the wrists and feet. The vertebral bodies had increased thickness of hyaline cartilage which enveloped ossification centers. The vertebrae and discs also had abnormalities in size, shape and structure. These anomalies were most likely the consequence of notochordal remnants presence within the intervertebral discs and in the vertebral bodies. The advantages of MR imaging in bone dysplasias caused by TRPV4 mutations are emphasized in this article., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Chondromyxoid fibroma-like osteosarcoma (CMF-OS) is a low-grade osteosarcoma, often misdiagnosed on initial biopsy as a benign lesion, with five cases previously described. We report a 13-year-old male with an intramedullary lytic CMF-OS of the right tibial proximal metaphysis with cortical destruction and soft tissue extension. Diagnosis was based on malignant new bone formation, increased mitotic figures, lamellar bone permeation with bony destruction, and correlation with imaging studies. There were no metastasis at presentation and the tumor showed good response to standard chemotherapy with >95% necrosis.

Objectives: The epidemiology of myelodysplastic syndromes (MDS) differs among countries. Here, we present the first epidemiological indices determined for Poland., Methods: Twenty-one haematological centres participated in the study. Patients diagnosed with MDS and acute myeloid leukaemia (AML) with 20-29% blasts were enrolled. Data collection was conducted for strictly predefined period., Results: The overall crude incidence rate for all MDS subtypes was 1.95 (95% CI, 1.81-2.09) per 100 000 person-years: 2.46 (95% CI, 2.24-2.69) for males and 1.47 (95% CI, 1.31-1.65) for females; after excluding AML cases, the indices were as follows: 2.35 (95% CI, 2.08-2.66) for males and 1.27 (95% CI, 1.08-1.5) for females. Prevalence rate was 6.2 per 100 000 persons (95% CI, 5.96-6.45), that is 6.86 (95% CI, 6.49-7.24) for males and 5.58 (95% CI, 5.26-5.92) for females. Both incidence and prevalence increased with increasing age. The most frequently diagnosed MDS subtype was refractory cytopenia with multilineage dysplasia (RCMD), responsible for 30.3% of all newly diagnosed MDSs., Conclusions: RCMD is the most frequent MDS subtype in Poland. Incidence and prevalence indices are lower than those reported for other populations, which probably results from inadequate diagnosis of potential cases of this disease., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The aim of the present study was to determine the effect of vitamin C supply in the diet of lactating women on vitamin C concentrations in human milk (n = 97) sampled at different stages of lactation. Vitamin C levels were measured by liquid chromatography. Dietary intake of vitamin C was determined based on 3-day food dairies kept by breastfeeding mothers. Maternal dietary intakes of vitamin C from natural sources on lactation day 90 (n = 18) were significantly higher than on lactation days 15 (n = 42) and 30 (n = 37). The number of women taking vitamin C supplements decreased in successive stages of lactation. The average daily intake of vitamin C was estimated at 119 mg, but nearly 20% of mothers consumed less than 50 mg of vitamin C per day. No significant correlations were observed between lactation stage and vitamin C levels in breast milk (r = 0.110, p = 0.064). The average vitamin C concentrations in human breast milk were determined at 50.9 mg / L, and were not higher than 80.6 mg / L regardless of lactation stage and maternal intake of vitamin C. Vitamin C excretion into breast milk is regulated to prevent exceeding saturation level. The vitamin C concentration in milk was positive correlated with maternal intake of vitamin C from food, in the case of non-supplemented diet (r = 0.402, p = 0.041). Our results suggest that vitamin C occurring in food is much better absorbed and passes into breast milk than vitamin C from supplements.

Epidemiological studies on myelodysplastic syndromes (MDS) in Middle-Eastern Europe are scarce. No data about the demographic, clinical, and laboratory features of Polish MDS patients have been published. The aim of this study was to assess the epidemiological data and toxic exposure of Polish MDS patients and their association with hematological parameters and clinical outcomes. For 15 months, 966 living MDS patients were enrolled at 24 centers (12 university and 12 community hospitals). Follow-up was conducted for the next 55 months. The percentage of patients older than 80 years (16%) was between the values for Eastern and Western countries. In patients younger than 55 years, a female predominance was observed (male/female ratio 0.70:1 vs. 1.29:1; p < 0.001). Female patients had higher platelet counts (160 × 10⁹/l vs. 111 × 10⁹/l; p < 0.001). Patients exposed to chemicals were younger than patients without such exposure; their median age at MDS diagnosis was 66 vs. 70 years (p = 0.037). Smokers had significantly lower hemoglobin concentrations (8.6 vs. 9.1 g/dl; p = 0.032) and lower platelet counts (99 × 10⁹/l vs. 137 × 10⁹/l; p < 0.001) than nonsmokers. We provide the first description of the characteristics of Polish MDS patients. Females predominated in the group aged <60 years and they had higher platelet counts. The course of the disease is affected by toxic exposure and smoking., (© 2015 S. Karger AG, Basel.)

The gut microbiota comprises a large and diverse range of microorganisms whose activities have a significant impact on health. It interacts with its host at both the local and systemic level, resulting in a broad range of beneficial or detrimental outcomes for nutrition, infections, xenobiotic metabolism, and cancer. The current paper reviews research on the role of intestinal microflora in colorectal cancer development. Especially a protective effect of beneficial bacteria and probiotics on the risk of cancer development is highly discussed. There is substantial experimental evidence that the beneficial gut bacteria and their metabolism have the potential to inhibit the development and progression of neoplasia in the large intestine. Most of the data derive, however, from experimental and animal trials. Over a dozen well-documented animal studies have been published, wherein it has been clearly revealed that some lactic acid bacteria, especially lactobacilli and bifidobacteria, inhibit initiation and progression of colorectal cancer. Studies on cancer suppression in humans as a result of the consumption of probiotics are still sparse. Nevertheless, some epidemiological and interventional studies seem to confirm the bacterial anticancerogenic activity also in human gut. The mechanism by which probiotics may inhibit cancer development is unknown. Probiotics increase the amount of beneficial bacteria and decrease the pathogen level in the gut, consequently altering metabolic, enzymatic and carcinogenic activity in the intestine, decreasing inflammation and enhancing immune function, which may contribute to cancer defense.

Newcastle disease virus (NDV), member of the Paramyxoviridae family and avian influenza virus (AIV), member of the Orthomyxoviridae family, are two main avian pathogens causing serious economic problems in poultry health. Both are enveloped, single-stranded, negative-sense RNA viruses and cause similar symptoms, ranging from sub-clinical infections to severe diseases, including decrease in egg production, acute respiratory syndrome, and high mortality. Similar symptoms hinder the differentiation of infection with the two viruses by standard veterinary procedures like clinical examination or necropsy. To overcome this problem, we have developed a new duplex real-time PCR assay for the detection and differentiation of these two viruses. Eighteen NDV strains, fourteen AIV strains, and twelve other (negative control) strains viruses were isolated from allantoic fluids of specific pathogen-free (SPF), embryonated eggs. Four-weeks-old SPF chickens were co-infected with both viruses (NDV - LaSota and AIV - H7N1). Swabs from cloaca and trachea were collected and examined. The results obtained in this study show that by using duplex real-time PCR, it was possible to detect and distinguish both viruses within less than three hours and with high sensitivity, even in case a bird was co-infected. Additionally, the results show the applicability of the real-time PCR assay in laboratory practice for the identification and differentiation of Newcastle disease and influenza A viruses in birds.

Unlabelled: Smoking cigarettes is very common among lactating women. The objective evaluation of an exposure to cigarette smoke is needed, as cotinine concentration. On many research a questionnaire is the only determinant of fact and intensification of smoking. The aim of this research was to establish a reliability of the questionnaire concerning cigarette smoking among lactating mothers by analyzing cotinine/creatinine ratio., Material and Methods: In 51 lactating mothers (participants of the research on oxidative stress in Obstetrics Departments on 3rd day post partum) during check-up visit, on 30th day post partum a questionnaire concerning smoking cigarettes before, during pregnancy and after childbirth, and amount of cigarettes smoked was made. Samples of matutinal urine were deep freezed in - 700 till cotinine was evaluated immunoenzymatically. Women were divided into groups: I of non-smokers (32 women), II of smokers (19 women). Statistical analysis was made by means of unparametric test U Mann-Whitney., Results: Average cotinine/creatinine ratio was 33,8 ng/mg in group I; 1275.9 ng/mg in group II. Specificity and sensitivity of data earned by virtue of statement of correspondents was 81% and 89%. Test of cotinine concentration in urine demonstrated 100% sensitivity and 94% specificity compared to the cotinine/creatinine ratio. Directly proportional relationship was stated between amount of cigarette smoked and concentration of cotinine in urine (55.9 ng/ ml cotinine/cigarette)., Conclusions: A questionnaire should not be the only method evaluating smoking among lactating women. The concentration of cotinine shows slightly lower specificity than cotinine/creatinine ratio. Both tests can be dealt equivalent.

In this article we describe localization and structure of genes from GNAS1 cluster, which mutations are responsible for characteristic group of features described mainly as Albright's syndrome. We present the capabilities of expressions of different phenotypes depending on types of molecular changes and possibilities of genetic prognosis with problems need to be solved in interdisciplinary support.

In this article we describe problems of genetic counseling with features of morphological phenotype, biochemical and molecular changes observed in osteodystrophy Albright syndrome, inherited autosomal dominant condition.

The Aim of the Study: was to determinate the serum neopterin concentration in children with lower respiratory tract infections., Material and Methods: eighty-seven children with lower respiratory tract infections, aged from 1 month to 8 years, were analyzed. The control group consisted of 105 children without infection. The serum C-reactive protein level and whole blood count with differential white blood count were estimated The serum neopterin concentration was evaluated using the immunoenzyme assay (ELISA)., Results: statistically significantly higher serum neopterin concentration was observed in the studied than in the control group. The sensitivity of serum neopterin concentration evaluation in children with lower respiratory tract infection was 90.5% and specificity 55.2%. No correlation was found between serum neopterin concentrations and commonly evaluated inflammatory markers., Conclusions: serum neopterin concentration is elevated in children with lower respiratory tract infections and may be of clinical value as the marker of a viral infection.

The phenotype of a girl at age of 12 years with a partial trisomy 4q caused by unique direct duplication 4q27 --> q31.3 included the thick, broad and straight eyebrows, upward slanting palpebral fissures, a deep-set eyes, narrow bridge and long back of the nose, flattened philtrum columns, narrow of vermilion borders of both upper and lower lips, protrusion of maxillary alveolar processus and anterior teeth together with shortened and posteriorly situated mandible, malocclusion corresponding with II class of Angle and long fingers, narrowing towards distal phalanges has been described. Further investigations are needed to delineate the clinical spectrum of features essential for partial trisomy 4q.

Unlabelled: Effort dyspnoea or dyspnoea at rest are predominating among subjective complaints in patients with myasthenia (myasthenia gravis--MG). THE AIM of the study was to evaluate the airway function in patients with MG by means of the chosen spirometric parameters analysis., Material and Methods: We observed 68 patients with MG in which type I (the ocular myasthenia), type IIA (the mild generalized form), type IIB (the subacute generalized form) and type IIC (the acute generalized form) was diagnosed based on Osserman classification and on 20 healthy volunteers (control group--CG). The function of the airways was assessed by means of "flow-volume" spirometry., Results: The mean values of FEV1, MEF25-75 i FVC in the type II MG were lower than in CG. The mean value of PEF in the type II was lower than in CG and lower than in type I. In the type I of MG the mean values of evaluated parameters were not different than in CG. Decrease of PEF value was the most often found. The frequency of decreased PEF and FEV1 values was higher in type II than in CG. In all types of generalized MG the reduced FVC was found more frequently than in healthy people. In each types of MG (the type IIA, IIB, IIC) the mean values of the estimated parameters and the frequency of the deviation from predicted values were not different., Conclusion: The results show that in type II of MG the decrease of spirometric parameters is observed more often than in healthy people and these abnormalities are most marked in PEF. In the ocular MG the distinct tendency to FVC decrease is observed.

In this article, the literature regarding the effects of achalasia cardiae on pulmonary disorders is reviewed. We specifically focused on the issue how achalasia may be associated with: airway obstruction, stridor, cough and recurrent pneumonia. Authors suggested it is necessary to carry out full differential diagnosis considering achalasia cardiae in patients with unsatisfactory treatment of recurrent respiratory tract diseases.

The authors present a case of an 18-year-old woman, were referred to an allergologist because of a suspicion of bronchial asthma. She had complained of respiratory symptoms: chronic bronchitis for three years, cough and dyspnoea. Auscultation revealed wheezies and rales. Spirometry showed severe airway obstruction. Because of negative result of a reversibility test, ex iuvantibus treatment with prednisone was used but no results were obtained. The next step of diagnostic procedure was computed tomography which revealed the trachea compression by the dilated oesophagus. Finally she was found by us to have esophageal achalasia. Pharmacological treatment with nifedipine did not give an improvement. After operation the asthmatic symptoms disappeared and marked improvement was found in the flow-volume curve and in the chest radiogram. The demonstrated case proves that esophageal achalasia should be considered as one of the differential diagnoses of pathological respiratory symptoms suggesting asthma difficult to treat.

The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of chromosome 9q. We present an 11-year-old girl with clinical features consistent with BCNS including bridging of sella turcica, biparietal bossing, downward slanting palpebral fissures, mandible prognathism, pectus excavatum, thumb abnormalities, occult spina bifida at L5-S4, numerous basal cell nevi, and single basal cell carcinoma. Cytogenetic analysis using high-resolution banding techniques and fluorescence in situ hybridization (FISH) revealed interstitial chromosome deletion 9q22.32-q33.2 involving the PTCH gene as a secondary breakage event to a chromosome translocation t(9;17)(q34.1;p11.2)mat. Further FISH studies showed the translocation breakpoint on 9q34.11 maps proximal to ABL, between the BAC clone RP11-88G17 and the LMX1B gene. The latter gene encodes a transcription factor, in which loss of function mutations are responsible for the nail-patella syndrome (NPS, #161200 OMIM). Interestingly, some features of our proband (e.g., bilateral patellar dysplasia and abnormal clavicular shape), as well as her healthy sister who carries the same translocation, are also found in patients with NPS. The chromosome 17p11.2 breakpoint maps in the Smith-Magenis syndrome common deletion region, within two overlapping BAC clones, CTD-2354J3 and RP11-311F12., (Copyright 2003 Wiley-Liss, Inc.)

The X-linked anhydrotic ectodermal dysplasia is a rare disease in which defects in development of ectodermal derivatives are observed. This syndrome is clinically characterized by total or partial anodontia, characteristic physionomy and absent or reduced sweating. Recurrent fever was a clue to the disease diagnosis in 5 month old infant. The diagnosis was confirmed by the mutation of EDA exon 9.

Objectives: The intrauterine toxoplasma gondii infection is linked with a high risk of central nervous system/CNS/damage in the fetus. Why, despite the wide knowledge of this neurodegenerative disease prophylaxis and therapy, do we still meet neonates with the CNS damage?, Design, Materials and Methods: Authors present two cases of congenital toxoplasmosis with the CNS involvement., Results: One of the cases was identified as the internal hydrocephalus during a prenatal ultrasound examination but no further diagnostics tests were undertaken. The congenital toxoplasmosis and severe CNS damage was diagnosed post delivery. In the other case some clinical symptoms of the CNS infection appeared in the neonatal period. Now this patient is eight months old and presenting mild motor developmental delays., Conclusions: 1. There are many clinical symptoms of the congenital toxoplasmosis, that can occur in the prenatal/case 1/and postnatal/case 2/period. 2. No serologic tests for toxoplasmosis were performed in mothers during pregnancy, what delays treatment and diagnosis of sick children. 3. Fetus presenting the CNS anomalies identified during ultrasound examinations should be immediately diagnosed.

A method of highly efficient synthesis of N- and O-phosphorothioylated amino acids was developed. N- and O-(2-Thiono-1,3,2-oxathiaphospholanyl)amino acid methyl esters (3) were prepared in high yields in reaction of amino acid methyl esters with 2-chloro-1,3,2-oxathiaphospholane in pyridine in the presence of elemental sulfur. Compounds 3 were converted in high yield into the corresponding methyl or benzyl phosphorothioamides 6 and 7 by DBU-assisted treatment with methanol or benzyl alcohol. When 3-hydroxypropionitrile was used instead of methanol or benzyl alcohol, the corresponding 2-cyanoethylphosphorothioamidates 4 were obtained in high yield, from which the 2-cyanoethyl group was removed with concentrated ammonium hydroxide. The oxathiaphospholane methodology was also applied for the phosphorylation of amino acids. Thus, 2-oxo-1,3,2-oxathiaphospholane derivatives 10 were prepared by oxidation of compounds 3 with SeO(2.) Compounds 10 were transformed into the corresponding phosphate diesters or amidoesters upon treatment with 3-hydroxypropionitrile in the presence of DBU. The DBU-assisted oxathiaphospholane ring-opening process in 3 and 10 did not cause any measurable C-racemization of phosphorothioylated/phosphorylated amino acids.