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To evaluate the effect of carcass hanging method and aging period on beef eating quality young cross-breed bulls were slaughtered in a slaughterhouse in south-eastern Poland. After the slaughter operations were completed, one carcass side was hung by the Achilles tendon and the other by the hip bone. Suspension methods depending on the carcass sides were used in rotation. Consumer samples were prepared from 14 muscles collected from each of the 50 sides. The use of different hanging methods showed their varied impact on tenderness, juiciness, flavour overall liking and eating quality of beef cuts. A positive effect of tenderstretch on eating quality was observed for six of the muscles (longissimus thoracis, spinalis dorsi, longissimus lumborum, vastus lateralis, gluteus profundus and semimembranosus), no effect was observed for seven, and a negative effect of suspending carcass by hip bone was noted for just one muscle. [ABSTRACT FROM AUTHOR]

Invasive meningococcal disease is a dangerous bacterial infection that often leads to death or permanent disability. Immunization is the best strategy to protect individuals against invasive infections caused by Neisseria meningitidis. The effectiveness of vaccines has been demonstrated in many countries where they have been introduced into national vaccination programs. Meningococcal vaccinations in Poland are recommended in the framework of the National Immunization Program. However, they are not reimbursed, meaning the patient or parent covers vaccination costs. In addition, insufficient public awareness of the disease course and risks associated with meningococcal infection, the need for immunization in the first year of a child's life, the number of doses administered, and the price of the vaccines are barriers to the acceptance and implementation of meningococcal immunization, especially in the youngest children. Recommendations for physicians implementing meningococcal vaccination in children and adults are the result of the work of an expert group. [ABSTRACT FROM AUTHOR]

Background: A new disease entity calledmultisysteminflammatory syndrome in children (MIS-C) is a rare consequence of COVID-19 infection. The pathophysiology and risk factors of MIS-C are still unclear, and the clinical manifestation ranges from milder forms to cases needing intensive care unit treatment. Based on available data, obesity is linked to pro-inflammatory stimulation. Moreover, several studies showed that obesity could play a role in COVID-19 severity and its comorbidities among the adult and children's populations. This study aimed to investigate the influence of overweightedness/obesity in childhood for the course of MIS-C in Poland. Methods: This study presented data from the national MultiOrgan Inflammatory Syndromes COVID-19 Related Study (MOIS-CoR) collected between 4 March 2020 and 20 February 2021. Of the 371 patients that met the Polish MIS-C criteria, 306 were included for further analysis. Results: Children who are obese (OB with body mass index (BMI) =95th percentile) and overweight (OV with BMI =85th percentile but <95th percentile) (28 and 49 patients, respectively) represented 25.1% (n=77) of all recruited patients. Complete recovery at the time of discharge presented in 93% of normal body weight (NW) participants and 90% of OV children (p>0.05). Among OB children, 76% recovered fully, which differed from the NW group (p=0.01). Calculated odds ratio (OR) of incomplete recovery for OB children was 4.2. Irrespective of body weight, there were no differences (p>0.05) in the length of hospitalization and the duration of symptoms (for OB, 13 and 16.5 days; for OV and NW, 10 and 14 days, respectively), as well as in the frequency of cardiovascular abnormalities, necessity of oxygen therapy (OB, 26.9%; OV, 23.9%; and NW, 20.7%), and intravenous immunoglobulin and glucocorticosteroid (GCS) treatment. Conclusion: The higher risk of incomplete recovery and observed tendency toward a worsening course of MIS-C in patients with obesity suggest the need for further studies to confirm and understand our findings. [ABSTRACT FROM AUTHOR]

Since late 2021, we have observed a significant increase in the proportion of children infected with SARS-CoV-2. The course of the disease in children is usually sparsely symptomatic or asymptomatic. However, the predominance of new virus variants makes children more likely to become symptomatically ill and require hospitalisation. This paper aims to update recommendations for managing a child with COVID-19 in out- and inpatient settings. Current options for prevention and antiviral treatment are discussed, noting the limited availability of therapy for children. In most children with COVID-19, the basis for treatment remains symptomatic and supportive therapy and measures to reduce SARS-CoV-2 infection spread. [ABSTRACT FROM AUTHOR]

Despite the constant tendency of decreasing birth rate, children and adolescents comprise one fifth of the Polish population. Health care for children is free and it is organised similarly to the care for adult patients. In primary health care, children can be under the medical care of general practitioners, family doctors, or paediatricians. In secondary and tertiary care, medical services are provided by paediatricians or doctors with paediatric subspecialties. The number of paediatricians and nurses is not sufficient and still differs from the European average. Nonetheless, population health indicators (e.g. infant mortality rate) are constantly improving and, despite the strong influence of the anti-vaccine movements, 90% of children are vaccinated according to the schedule. [ABSTRACT FROM AUTHOR]

Wstęp: Przeszczepienie płuc jest obecnie coraz powszechniejszą metodą terapeutyczną u chorych na mukowiscydozę. Celem badań było zastosowanie testu 6-minutowego chodu w ocenie tolerancji wysiłku u chorych na mukowiscydozę, kwalifikowanych do przeszczepienia płuc. Materiał i metody: W badaniach wzięło udział 49 badanych (27 płci żeńskiej i 22 męskiej). Średni wiek badanych wyniosł 24,6 ± 9,4 lat w przedziale 9 - 45 lat. Test 6- minutowego chodu ukończyło 47 badanych i ich wyniki stanowiły podstawę analizy badawczej. Wyniki: Średnia wartość dystansu uzyskanego w teście 6- minutowego chodu wyniosła 493,4 ± 101,0 metrow. Wartość wskaźnika SaO2 mierzona przed rozpoczęciem testu wyniosła 90,1 ± 4,9% i spadła w momencie zakończenia testu do wartości 74,5 ± 10,5%. Z wskaźnikow spirometrycznych w analizie uwzględniono: FEV1 ktory wyniosł 0,71 ± 0,2 4 (22,1 % nal.) oraz FVC wynoszący 1,34 ± 0,54 (35,7 % nal.). Wartości wskaźnikow FVC, FEV1 oraz wyjściowych SaO2 i HR korelowały nieznacznie z uzyskanym w teście dystansem. Wnioski: Test 6- minutowego chodu jest przydatnym narzędziem w ocenie możliwości wysiłkowych chorych na mukowiscydozę u ktorych rozważana jest kwalifikacja do przeszczepienia płuc. Introduction: Lung transplantation in patients with cystic fibrosis is a robust therapeutic option to treat patients with cystic fibrosis. The aim of the study was to estimate of exercise tolerance using 6-minute walking test in patients with cystic fibrosis during the acceptation process for lung transplantation. Material and methods: This study included 49 CF patients (27 female, 22 male). The mean age was 24,6 ± 9,4 years in range from 9 to 45 years. 47 patients finished 6-minute walking test and were included in the statistical analysis. Results: Mean distance in 6-minute walking test was 493,4 ± 101,0 meters. At rest SaO2 was 90,1 ± 4,9% and was 74,5 ± 10,5% post-test. The values of FEV1 was 0,71 ± 0,2 4 (22,1 % pred.), FVC was 1,34 ± 0,54 (35,7 % pred.). Values of FVC, FEV1 and pre-test SaO2 and HR was a little correlated with the distance of the test. Conclusions: The 6-minute walking test is a useful tool in the assessment when to list patients for lung transplantation [ABSTRACT FROM AUTHOR]

Angiosarcoma is a rare, highly malignant vascular neoplasm with little data available on its clinical course and management in children. Ten children with angiosarcoma (M/F: 6/4; aged 2, 3–16 years) registered in Polish Paediatric Rare Tumours and Soft Tissue Sarcomas Studies between 1992 and 2006. Primary tumour exceeded 5 cm in seven patients and affected mainly deep tissues (heart-2, head/neck, bladder, brain, liver and upper limb – one patient each). Four patients had regional and two metastatic diseases (lungs and bones). Three patients were initially misdiagnosed as haemangioma. Complete primary excision was unfeasible even in local stages. All patients received supplementing chemotherapy with no response in four. Radiotherapy was given to five children, including three after relapse. Three of five secondary tumour resections proved complete. Seven patients experienced relapses (mainly metastatic) and two continuous progression. Relapsed patients received chemotherapy ± radiotherapy and surgery (three). Nine patients died of disease (overall survival 6–66 months), and one child after mutilating secondary resection is alive. Angiosarcoma in children is highly aggressive with an extremely poor prognosis. Complete primary excision is unfeasible, even in seemingly local stages. The response to chemotherapy is poor and the large number of metastatic recurrences suggests a need for systemic therapy modifications. [ABSTRACT FROM AUTHOR]

A complete compositional or structural description of naturally-occurring surfactants on rain water is not currently feasible. A main limitation of previous work has been the lack of means for correlating force-area characteristics with the chemical makeup of the films. Instead of analyzing the chemical composition of rain water film-forming organics, it is postulated here to introduce the novel scaling procedures (2D virial equation of state and 2D polymer film scaling theory) applied to the surface pressure-area (π-A) isotherms and surface pressure-temperature (π-T) isochors and resulting from generalized physical formalisms modified to a multicomponent surfactant film. A set of the introduced structural film state parameters (π, Γ, Alim, Eisoth, y, R, Mw, βs) could become sensitive indicators for surface-active source-specific organic matter pathway tracing, where the measurement of surfactant concentration and chemical analyses are avoided. The concept is quantified using the Langmuir trough film and disdrometer data on a set of rain water events observed in Gdansk, Poland in May 2002. [ABSTRACT FROM AUTHOR]

The presented procedure allows one to recover the film properties present originally at the raindrop surface from the Langmuir trough data supplemented with simultaneously taken rain event characteristics (rain rate and rain drop diameter distribution). It requires the partitioning effect of the surfactant molecules between the surface and bulk phases to be estimated where the entering quantities are: the partitioning coefficient Kp=Γ/c and a degree of the rain water interfacial system area development Ar/Vr evaluated here using fatty acid concentrations as model input data. The latter parameter depends on particular rain event signatures. The concept is quantified using the Langmuir trough film and disdrometer data on a set of rain water events observed at Gdańsk, Poland in May 2002. [ABSTRACT FROM AUTHOR]

The paper contains the results of natural film experiments carried out on inland and coastal waters in the Dead Vistula catchment area and mouth during 2000–2002, using the integrated Langmuir trough–Wilhelmy plate system. The static film parameters result from the generalized scaling procedures applied to the surface pressure–area isotherms. They appear to reflect in a quantitative and sensitive way the film composition ( A lim, M w, E isoth), film solubility and the miscibility of its components (via R, Δ S c and y factors), and surface concentration (πeq, Γeq). The adsorption kinetics parameters: effective diffusion coefficient D eff/ D and activation energy barrier E a/ RT are derived from dynamic surface pressure. There is a reason to suggest that certain classes of film-forming components or ‘end-members’ may dominate the static and dynamic surface properties. Variation in the surface rheological parameters of source-specific biosurfactants is postulated to reflect organic matter dynamics in natural waters and were measured for the Dead Vistula river, its tributaries and the adjacent coastal area. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to assess the effect of air pollution and weather conditions on the frequency of hospital admissions due to acute coronary syndrome (ACS) in the population of Bialystok, known as the capital of the Green Lungs of Poland.Materials and Methods: The study analyzed the medical records of 2,645 patients living within the borders of Bialystok who were treated for ACS between 2009 and 2017 and the data on air pollutants-nitrogen dioxide (NO2), sulfur dioxide (SO2), and particulate matter with a diameter of 2.5 μm or less (PM2.5) and 10 μm or less (PM10)-and the basic meteorological factors (temperature, humidity, and atmospheric pressure). A time-stratified case-crossover study design was applied to assess the effects of particulate matter, the concentration of gases, and weather conditions on ACS.Results: The number of patients admitted for ST-segment elevation myocardial infarction, non-ST-segment elevation myocardial infarction (NSTEMI), and unstable angina (UA) was 791, 999, and 855, respectively. The daily concentration norm for PM2.5 recommended by the World Health Organization (WHO) was exceeded in 692 days (i.e., 24.58% of the observation period). The significant increase in the number of ACS hospitalizations was associated with an interquartile-range increase in NO2 concentration, with an odds ratio of 1.08 (95% confidence interval (CI): 1.02-1.15, P = 0.01), 1.09 (95% CI: 1.01-1.18, P = 0.03), and 1.11 (95% CI: 1.00-1.22, P = 0.048) for patients with ACS, NSTEMI, and UA, respectively.Conclusion: The study showed that the effects of air pollution and weather conditions on the number of ACS hospitalizations are also observed in cities with moderately polluted or good air quality. NO2 was identified as the main air pollutant affecting the incidence of ACS. [ABSTRACT FROM AUTHOR]

(1) Introduction: air pollution is considered to be one of the main risk factors for public health. According to the European Environment Agency (EEA), air pollution contributes to the premature deaths of approximately 500,000 citizens of the European Union (EU), including almost 5000 inhabitants of Poland every year. (2) Purpose: to assess the gender differences in the impact of air pollution on the mortality in the population of the city of Bialystok—the capital of the Green Lungs of Poland. (3) Materials and Methods: based on the data from the Central Statistical Office, the number—and causes of death—of Białystok residents in the period 2008–2017 were analyzed. The study utilized the data recorded by the Provincial Inspectorate for Environmental Protection station and the Institute of Meteorology and Water Management during the analysis period. Time series regression with Poisson distribution was used in statistical analysis. (4) Results: A total of 34,005 deaths had been recorded, in which women accounted for 47.5%. The proportion of cardiovascular-related deaths was 48% (n = 16,370). An increase of SO2 concentration by 1-µg/m3 (relative risk (RR) 1.07, 95% confidence interval (CI) 1.02–1.12; p = 0.005) and a 10 °C decrease of temperature (RR 1.03, 95% CI 1.01–1.05; p = 0.005) were related to an increase in the number of daily deaths. No gender differences in the impact of air pollution on mortality were observed. In the analysis of the subgroup of cardiovascular deaths, the main pollutant that was found to have an effect on daily mortality was particulate matter with a diameter of 2.5 μm or less (PM2.5); the RR for 10-µg/m3 increase of PM2.5 was 1.07 (95% CI 1.02–1.12; p = 0.01), and this effect was noted only in the male population. (5) Conclusions: air quality and atmospheric conditions had an impact on the mortality of Bialystok residents. The main air pollutant that influenced the mortality rate was SO2, and there were no gender differences in the impact of this pollutant. In the male population, an increased exposure to PM2.5 concentration was associated with significantly higher cardiovascular mortality. These findings suggest that improving air quality, in particular, even with lower SO2 levels than currently allowed by the World Health Organization (WHO) guidelines, may benefit public health. Further studies on this topic are needed, but our results bring questions whether the recommendations concerning acceptable concentrations of air pollutants should be stricter, or is there a safe concentration of SO2 in the air at all. [ABSTRACT FROM AUTHOR]

Meat Standards Australia (MSA) methodology was used to evaluate the sensory categorization of beef by Polish consumers. A significant quality range was created by utilisation of 3 muscles, M. psoas major, M. longissimus thoracis et lumborum, and M. semimembranosus from 22 divergent bull carcasses (Holstein-Friesian crosses with Limousine, Hereford). Consumers evaluated every sample for selected sensory traits and chose a grade. A trend was observed for 6 mm preparation to reduce the proportion of unsatisfactory SM, with a consequent increase in 3star counts, in contrast to reducing the proportion of PM 5star and LTL 4star with an increase in the lower categories. Within each thickness Polish consumers clearly distinguished between grades, defined by MQ4 (Meat Quality, 4 variables) boundaries derived from discriminant analysis. Similar accuracy was achieved for both thicknesses. It was concluded that the MQ4 score could be successfully used to support a meat quality grading system in Poland. [ABSTRACT FROM AUTHOR]

Abstract: The paper contains the results of natural film experiments carried out on inland waters in the Dead Vistula catchment area during 2000–2002 using the integrated Langmuir trough–Wilhelmy plate system. The static film parameters result from the generalized scaling procedures applied to the surface pressure-area isotherms and surface pressure–temperature isochores. They appear to reflect in a quantitative and sensitive way the film composition (A lim, M w, E isoth), film solubility and the miscibility of its components (via R, ΔS c and y factors), kinetic mobility of surfactant molecules (β s, π k), and its surface concentration (π eq, Γ eq). There is a reason to suggest that certain classes of film-forming components or “end-members” may dominate the static and dynamic surface properties. Variation in the surface rheological parameters of source-specific surfactants is postulated to reflect organic matter dynamics in natural waters and were measured for the Dead Vistula river, its tributaries and the adjacent sea coastal area. The obtained results demonstrate that natural films are o complex mixture of biopolymeric molecules covering a wide range of solubilities, surface activities and molecular masses with a complex interfacial architecture. For the first time, the apparent solvent polarity effect on the structure and surface parameters of ex-situ formed natural sea microlayer films was quantitatively evaluated by means of the author''s scaling procedures applied to unique Brewster angle microscopy and Langmuir trough isotherm data on Mediterranean Sea samples obtained by others. [Copyright &y& Elsevier]

In recent years, questionnaires were published in English to assess the quality of life of patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13-17 years, and children aged 6-12 years and their caregivers. This study aimed to prepare Polish versions of the questionnaires and validate them in specific age groups with the participation of Polish patients with PCD. The individual questionnaires were translated and discussed with the involvement of the creator of the original questionnaire in English. Patients completed the questionnaires according to their affiliation with one of the groups. Validation was based on internal consistency analysis (Cronbach's alpha coefficient and split-half reliability) and test-retest reliability (intraclass correlation coefficient-ICC). The internal consistency of all questionnaires was from moderate to very good (Cronbach's alpha 0.67-0.91, split-half reliability 0.53-0.95). The consistency of the measurements showed excellent repeatability (ICC 0.67-0.91). The surveyed Polish PCD patients rated their quality of life quite well (63-77%). QOL questionnaires for patients with PCD can be used routinely during each medical check-up as a simple tool to provide the doctor with an indication of the effectiveness of treatment and the impact of the disease on the patient's quality of life.

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous hereditary disease from a class of ciliopathies. In spite of the recent progress, the genetic basis of PCD in one-third of patients remains unknown. In search for new genes and/or mutations, whole-exome sequencing was performed in 120 unrelated Polish patients with PCD, in whom no genetic cause of PCD was earlier identified. Among a number of pathogenic variants in PCD genes, mutations in CFAP300 (alias C11orf70 ) were detected. Extended screening in the whole Polish PCD cohort revealed the relatively high frequency (3.6%) of otherwise rare c.[198&#95;200 del&#95;insCC] variant, indicating that it should be included in population-specific genetic tests for PCD in Slavic populations. Immunofluorescence analysis of the respiratory epithelial cells from patients with CFAP300 mutations revealed the absence or aberrant localization of outer and inner dynein arm markers, consistent with transmission electron microscope images indicating the lack of both dynein arms. Interestingly, the disparate localization of DNAH5 and DNALI1 proteins in patients with CFAP300 mutations suggested differential mechanisms for the trafficking of preassembled outer and inner dynein arms to the axoneme. The profile of CFAP300 expression during ciliogenesis in suspension culture was consistent with its role in cilia assembly. Gene silencing experiments, performed in a model organism, Schmidtea mediterranea (flatworm), pointed to the conserved role of CFAP300 in ciliary function.

Purpose: As life expectancy in cystic fibrosis (CF) increases, questions regarding its potential impact on cardiovascular health arise. Soluble vascular cell adhesion molecule 1 (sVCAM-1), P-selectin (sP-selectin) are proposed as biomarkers of cardiovascular disease. We aimed to: compare their concentrations in clinically stable CF patients and healthy subjects (HS) and verify whether they independently correlate with CF characteristics., Methods: Serum sVCAM-1 and sP-selectin levels were measured using ELISA. CF was characterized using: forced expiratory volume in 1 s, exocrine pancreatic and CF-related liver disease status, Pseudomonas aeruginosa colonization, serum high-sensitivity C-reactive protein, and body mass index (BMI). CFTR genotypes were classified as severe (classes I and II) or other., Results: 108 CF patients and 51 healthy subjects volunteered for the study. In the CF group BMI was lower (median [IQR]: 20.5 kg/m 2 [18.4-22.2] vs. 21.6 kg/m 2 [19.9-23.4], p = 0.02) and hsCRP levels were higher (3.6 mg/L [1.1-7.1] vs. 0.5 mg/dL [0.3-1.0], p < 10 -10 ). While sVCAM-1 concentrations were greater in CF patients (1018 ng/mL [851-1279] vs. 861 ng/mL [806-979], p < 10 -4 ), sP-selectin levels did not differ (155 ng/mL [129-188] vs. 156 ng/mL [144-177], p = 0.48). None of the multivariable regression models was valid for the prediction of sVCAM-1 and sP-selectin in CF., Conclusions: We found higher sVCAM-1 concentrations in CF patients than in healthy subjects, which were not explained by CF characteristics. Further research is required to check whether sVCAM-1 is a marker of microangiopathy in CF.

Primary ciliary dyskinesia (PCD) is a rare recessive disease with a prevalence of 1/10,000; its symptoms are caused by a kinetic dysfunction of motile cilia in the respiratory epithelium, flagella in spermatozoids, and primary cilia in the embryonic node. PCD is genetically heterogeneous: genotyping the already known PCD-related genes explains the genetic basis in 60-65% of the cases, depending on the population. While identification of new genes involved in PCD pathogenesis remains crucial, the search for new, population-specific mutations causative for PCD is equally important. The Slavs remain far less characterized in this respect compared to West European populations, which significantly limits diagnostic capability. The main goal of this study was to characterize the profile of causative genetic defects in one of the PCD-causing genes, ZMYND10, in the cohort of PCD patients of Slavic origin. The study was carried out using biological material from 172 unrelated PCD individuals of Polish origin, with no causative mutation found in nine major PCD genes. While none of the previously described mutations was found using the HRM-based screening, a novel frameshift mutation (c.367delC) in ZMYND10, unique for Slavic PCD population, was found in homozygous state in two unrelated PCD patients. Immunofluorescence analysis confirmed the absence of outer and inner dynein arms from the ciliary axoneme, consistent with the already published ZMYND10-mutated phenotype; cDNA analysis revealed the lack of ZMYND10 mRNA, indicating nonsense-mediated decay of the truncated transcript.

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane regulator gene (CFTR). In light of the strong allelic heterogeneity and regional specificity of the mutation spectrum, the strategy of molecular diagnostics and counseling in CF requires genetic tests to reflect the frequency profile characteristic for a given population. The goal of the study was to provide an updated comprehensive estimation of the distribution of CFTR mutations in Polish CF patients and to assess the effectiveness of INNOLiPA&#95;CFTR tests in Polish population. The analyzed cohort consisted of 738 patients with the clinically confirmed CF diagnosis, prescreened for molecular defects using INNOLiPA&#95;CFTR panels from Innogenetics. A combined efficiency of INNOLiPA CFTR&#95;19 and CFTR&#95;17&#95;TnUpdate tests was 75.5%; both mutations were detected in 68.2%, and one mutation in 14.8% of the affected individuals. The group composed of all the patients with only one or with no mutation detected (109 and 126 individuals, respectively) was analyzed further using a mutation screening approach, i.e. SSCP/HD (single strand conformational polymorphism/heteroduplex) analysis of PCR products followed by sequencing of the coding sequence. As a result, 53 more mutations were found in 97 patients. The overall efficiency of the CF allele detection was 82.5% (7.0% increase compared to INNOLiPA tests alone). The distribution of the most frequent mutations in Poland was assessed. Most of the mutations repetitively found in Polish patients had been previously described in other European populations. The most frequent mutated allele, F508del, represented 54.5% of Polish CF chromosomes. Another eight mutations had frequencies over 1%, 24 had frequencies between 1 and 0.1%; c.2052-2053insA and c.3468+2&#95;3468+3insT were the most frequent non-INNOLiPA mutations. Mutation distribution described herein is also relevant to the Polish diaspora. Our study also demonstrates that the reported efficiency of mutation detection strongly depends on the diagnostic experience of referring health centers.

Background: Mutations in the DNAI1 gene, encoding a component of outer dynein arms of the ciliary apparatus, are the second most important genetic cause of primary ciliary dyskinesia (PCD), the genetically heterogeneous recessive disorder with the prevalence of ~1/20,000. The estimates of the DNAI1 involvement in PCD pathogenesis differ among the reported studies, ranging from 4% to 10%., Methods: The coding sequence of DNAI1 was screened (SSCP analysis and direct sequencing) in a group of PCD patients (157 families, 185 affected individuals), the first ever studied large cohort of PCD patients of Slavic origin (mostly Polish); multiplex ligation-dependent probe amplification (MLPA) analysis was performed in a subset of ~80 families., Results: Three previously reported mutations (IVS1+2-3insT, L513P and A538T) and two novel missense substitutions (C388Y and G515S) were identified in 12 families (i.e. ~8% of non-related Polish PCD patients). The structure of background SNP haplotypes indicated common origin of each of the two most frequent mutations, IVS1+2-3insT and A538T. MLPA analysis did not reveal any significant differences between patients and control samples. The Polish cohort was compared with all the previously studied PCD groups (a total of 487 families): IVS1+2-3insT remained the most prevalent pathogenetic change in DNAI1 (54% of the mutations identified worldwide), and the increased global prevalence of A538T (14%) was due to the contribution of the Polish cohort., Conclusions: The worldwide involvement of DNAI1 mutations in PCD pathogenesis in families not preselected for ODA defects ranges from 7 to 10%; this global estimate as well as the mutation profile differs in specific populations. Analysis of the background SNP haplotypes suggests that the increased frequency of chromosomes carrying A538T mutations in Polish patients may reflects local (Polish or Slavic) founder effect. Results of the MLPA analysis indicate that no large exonic deletions are involved in PCD pathogenesis.

We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.