Tomasz Tomasik

Genetic risk factors of bronchopulmonary dysplasia.

The aim of the study was to assess the association between bronchopulmonary dysplasia (BPD) and polymorphisms of genes coding for vascular endothelial growth factor (VEGF), transforming growth factor (TGF-β1), insulin-like growth factor (IGF-1), and 5,10-methylenetetrahydrofolate reductase (MTHFR). A sample of 181 newborns with mean gestational age of 28 wk was prospectively evaluated. Molecular analysis of TGF-β1 −800G>A, −509C>T, 10T>C, 25G>C, VEGF −460T>C and 405G>C and MTHFR 677C>T polymorphisms were performed and the number of CA repeats in the promoter region of IGF-1 gene was assessed. The frequency of all TGF-β1, IGF-1, and MTHFR polymorphisms, as well as the frequency of VEGF 405G>C polymorphism was similar in all groups. The newborns with −460TT and −460CT genotypes were significantly overrepresented in the BPD groups compared with the no BPD group. Multivariate analysis revealed that carrying T allele increased the risk of BPD by 9% (95%CI: 2–14%) above the baseline risk established for given gestational age, length of oxygen therapy, and sex. Based on our data from a single center, we propose that VEGF −460T>C polymorphism may influence the risk of BPD.

Development of a competency framework for quality improvement in family medicine: A qualitative study†

Objective: The aim of this study was to develop a comprehensive framework of quality improvement competencies for use in continuing professional development (CPD) and continuing medical education (CME) for European general practice/family medicine physicians (GPs/FDs). Methods: The study was carried out in three phases: literature review, consensus development panels, and Delphi technique. An initial competencies framework was developed from an extensive literature review focusing on literature in English from 2000 to 2011 and addressing quality improvement competencies for general practitioners in continuous education programs. Two rounds of reviews by consensus development panels were undertaken to evaluate and make changes to the initial draft competency framework. Then two rounds of Delphi surveys were carried out in an effort to reach consensus on the domains and competencies included in the framework. Our goal was for 90% to 100% consensus. Both surveys were presented through SurveyMonkey, an online survey service, and sent by e‐mail to members of the European Association for Quality and Patient Safety in General Practice/Family Medicine (EQuiP), a network organization of Wonca Europe. Results: The Quality Improvement Competencies Framework was developed. It consists of a list of 35 competencies organized into the following domains: Patient Care & Safety, Effectiveness & Efficiency, Equity & Ethical Practice, Methods & Tools, Leadership & Management, and Continuing Professional Education. Conclusion: We believe that the framework can serve as a useful tool for identifying gaps in knowledge and skills and guiding the development of CPD and CME curricula for GPs/FDs not only in Europe but also in other regions, including the United States and Canada, on the assumption that many of the core tasks of quality improvement would be relevant across multiple contexts.

PoLA/CFPiP/PCS Guidelines for the Management of Dyslipidaemias for Family Physicians 2016

Dyslipidaemias are the most common yet the least well-controlled risk factor for cardiovascular disease (CVD) in Poland [1]. The main modifiable risk factors for atherosclerosis and its complications including ischaemic heart disease (IHD), stroke and peripheral artery disease (PAD) are: smoking, type 2 diabetes, arterial hypertension, inappropriate diet and eating habits, inadequate physical activity as well as the resulting overweight and obesity [6]. As shown by epidemiological studies conducted in Poland, there is a nationwide growth in the above risk factors (with the exception of smoking in the majority of age groups), which is attributable to the increasing prevalence of poor eating habits and sedentary lifestyle [1]. The elimination of risk factors represents one of the greatest challenges to be faced in the domain of public health. In order to rise to up to the challenge, wide-ranging population prevention measures are needed. However, family physicians as well as other health professionals (cardiologists, internists) have a special responsibility towards high-risk patients. The group definitely comprises a considerable proportion of dyslipidaemia patients. Consequently, dyslipidaemia management should be an element of a broader strategy targeted at lowering total CV risk and, hence, reducing mortality, morbidity and disability associated with CVD.

Distribution of cytomegalovirus gN variants and associated clinical sequelae in infants

BACKGROUND Human cytomegalovirus (HCMV) is the most widespread cause of congenital infection. The effects of various viral strains and viral loads on the infection outcome have been under debate. OBJECTIVES To determine the distribution of gN variants in HCMV strains isolated from children with congenital or postnatal infection and to establish the relationship between the viral genotype, the viral load, and the sequelae. STUDY DESIGN The study population included congenitally HCMV-infected newborns and children with postnatal or unproven congenital HCMV infection. The genotyping was performed by RFLP analysis of PCR-amplified fragments, and the viral load was measured by quantitative real-time PCR. RESULTS Our results demonstrated that the HCMV genotypes gN3b, gN4b, and gN4c were prevalent in the patients examined. There were no differences in the distributions of gN genotypes in the congenitally and postnatally infected children. Multiple HCMV strains were detected in both groups of children. A significant association between the HCMV gN4 genotype and the incidence of neurological disorders was observed (p=0.045). Our results suggest that the detection of the gN2 or the gN4 genotype may be indicative of serious manifestations in children. In contrast, the gN3b and the gN1 genotypes represent less pathogenic HCMV strains. The HCMV load in urine was significantly higher in children with congenital infection compared with children with postnatal infection. No correlation was found between the viral load and the genotype. CONCLUSION Our results suggest that the gN genotype may be a virological marker of symptomatic HCMV infection in newborns.

The Polish Experience of Quality Improvement in Primary Care

UNLABELLED THE POLISH HEALTH CARE SYSTEM: The health care system in Poland is based on a model typical of east-central European countries, with features such as state-owned health care organizations, centralized management and administration, and primacy of access to care over quality. Poorly planned and uncoordinated reforms have been undertaken to transfer some of the authority for health service management to local governments. PRIMARY HEALTH CARE IN POLAND The reform of the health care system entails substitution of family physician-based for medical specialist-based primary care. Newly trained family physicians, as the first to start private surgery clinics financed from public sources, are the forerunners of the comprehensive reform and property structure transformation. MAKING THE TRANSITION FROM QUALITY ASSURANCE TO QUALITY IMPROVEMENT Since the early 1990s, more and more organizations, individuals, and professional groups have begun to perceive health care regulations and other external control mechanisms as ineffective. Attempts have been made to replace periodic, restrictive activities with systematic continuous quality improvement efforts. Systems of voluntary accreditation are being developed and fostered. Groups have started meeting to develop medical practice guidelines and conduct peer review. Concern about quality of health care services is now reflected in the Polish legislation for the first time, as well as in numerous local and nationwide projects and publications. CONCLUSION Despite some successes, the pioneers of quality improvement (QI) still have a long way to go. Continuation of educational activities and creation of a system of motivation for the development, of QI in primary care should be prioritized and encouraged.

New insight into the pathogenesis of retinopathy of prematurity: assessment of whole-genome expression

Background:Retinopathy of prematurity (ROP) is one of the most common preventable causes of blindness and impaired vision among children in developed countries. The aim of the study was to compare whole-genome expression in the first month of life in groups of infants with and without ROP.Methods:Blood samples were drawn from 111 newborns with a mean gestational age of 27.8 wk on the 5th, 14th, and 28th day of life (DOL). The mRNA samples were evaluated for gene expression with the use of human whole-genome microarrays. The infants were divided into two groups: no ROP (n = 61) and ROP (n = 50).Results:Overall, 794 genes were differentially expressed on the 5th DOL, 1,077 on the 14th DOL, and 3,223 on the 28th DOL. In each of the three time points during the first month of life, more genes were underexpressed than overexpressed in the ROP group. Fold change (FC), which was used in analysis of gene expression data, ranged between 1.0 and 1.5 in the majority of genes differentially expressed.Conclusion:Pathway enrichment analysis revealed that genes in four pathways related to inflammatory response were consistently downregulated due to the following variables: ROP and gestational age.

The prevalence and risk factors of allergic and respiratory symptoms in a regional cohort of extremely low birth weight children (<1000 g)

BackgroundChildren who were <1000 g (ELBW extremely low birth weight) at birth more frequently present with wheezing which is the most common reason that pediatric consultation is sought. Therefore asthma is diagnosed very often. However is the asthma that is diagnosed in ELBW subjects atopic in origin, or is there a different etiology?AimTo determine if ELBW infants are at higher risk for the development of allergic and respiratory symptoms and to establish if there were any specific risk factors for these symptoms.Methods81 children born with a mean birthweight of 845 g (91% of available cohort) were evaluated at the mean age 6.7 years. The control group included 40 full-term children. The children were examined for clinical signs of allergy, and were subjected to the following tests: serum total IgE, skin prick tests (SPT), exhaled nitric oxide measurement (FeNO) and spirometry.ResultsELBW children had wheezing episodes more often (64% vs. 25%; OR (odds ratio): 5.38; 95% CI (confidence interval): 2.14-13.8) and were diagnosed more frequently with asthma (32% vs. 7.5%; OR: 5.83, 95% CI: 1.52-26) than their term born peers. The most important risk factors for wheezing persistence were hospitalization and wheezing episodes in first 24 months of life. Mean serum tIgE level (geometric mean: 32+/−4 vs. 56+/−4 kU/L; p=0.002) was higher and the number of children with positive results of tIgE level (12% vs. 32%; p=0.02) were more frequent in the control group. Children from the control group also more frequently had SPT, however this data was not statistically significant (11% vs. 24%; p=0.09). All of the ELBW had normal FeNO level (<=20 ppb), but 5 children from the control group had abnormal results (p=0.02). There was no difference between the groups in the occurrence of allergic symptoms.ConclusionELBW children have more frequent respiratory, but not allergic problems at the age of 6–7 years compared to children born at term. The need for rehospitalization in the first 2 years of life, was a more important risk factor of future respiratory problems at the age of 7 than perinatal factors, the diagnosis of bronchopulmonary dysplasia or allergy.

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

The KIF5A gene (OMIM 602821) encodes a neuron‐specific kinesin heavy chain involved in intracellular transport of mitochondria and other cargoes. KIF5A protein comprises the N terminal motor domain, the stalk domain and the C‐terminal cargo binding domain. The binding between KIF5A and its cargoes is mediated by kinesin adaptor proteins such as TRAK1 and TRAK2. Numerous missense KIF5A mutations in the motor and stalk domains cause spastic paraplegia type 10 (SPG10, OMIM 604187). Conversely, the role of loss‐of‐function mutations, especially those affecting the cargo binding domain, is unclear. We describe a novel de novo KIF5A p.Ser974fs/c.2921delC mutation found by whole exome sequencing in a patient with a congenital severe disease characterized by myoclonic seizures and progressive leukoencephalopathy. Since this phenotype differs considerably from the KIF5A/SPG10 disease spectrum we propose that the KIF5A p.Ser974fs and possibly other mutations which lead to truncation of the C‐terminal tail of the protein cause a novel disorder. We speculate that the unique effect of the C‐terminal truncating KIF5A mutations may result from the previously described complex role of this protein domain in binding of the TRAK2 and possibly other kinesin adaptor protein(s).

QUALITY IMPROVEMENT COMPETENCY GAPS IN PRIMARY CARE IN ALBANIAN, POLISH AND SLOVENIAN CONTEXTS: A STUDY PROTOCOL

Background: Nowadays, general practitioners (GPs) and family doctors (FDs) face increasing demands, as a consequence of complex patients’ expectations, developments in science and technology, and limitations within healthcare systems which can result in competency gaps. Therefore, there is a need to identify which competencies in quality improvement (QI) are most important for GPs and FDs to possess in order to meet the demands of contemporary health care practice. To date, however, little information is available on the self-assessment of competencies related to QI among GPs and FDs. To deal with these issues, a project on QI in continuous medical education was launched in 2011. The project aims to broaden the GPs’/ FDs’ continuous education offer, its quality and attractiveness, as well as provide them with opportunities for vocational advancement and enable the development of common, European frame of reference for GPs’/FDs’ occupational competencies. The third work package of the project consists of the validation research of the questionnaire developed on the basis of the competency framework in QI for GPs/FDs in Europe. Methods: A cross-sectional study will be carried out using the self-assessment QI questionnaire which was originally developed in English and subsequently it was cross-culturally adapted in Slovenian, Albanian and Polish settings by use of a pilot study on a conveniently selected group of FDs/GPs (N=10) in each participating country. The final version of the questionnaire will be administered to large samples in each country involved in the survey. Two weeks after the first administration of the questionnaire, a second round, with the same procedure and including the same group of respondents, will follow. Psychometric tests will be conducted including internal consistency (after the initial and subsequent application of the instrument) and stability over time (two-week test-retest reliability). Discussion: This self-assessment study will demonstrate the complex environment in which general practice/family medicine operates and, eventually, this gap analysis will set out strategically important areas for collaborative efforts related to QI in primary care. The authors consider that the study should be extended to other European countries to help identify most required competencies that GPs/FDs should possess in Europe and thus stir system and educational debate around QI curricula and training for primary care in Europe.

Prevention of coronary heart disease in primary medical care in Poland: results from the LIPIDOGRAM study:

Aims: To determine: (1) achievement of cholesterol therapy goals in patients receiving lipid-lowering drugs in Polish primary care between the years 2004 and 2006; (2) the characteristics of patients that are associated with attainment of these goals. Design: Cross-sectional study in randomly selected Polish primary care practices. Method: 5248 patients aged over 30 years in 2004 and 5386 patients in 2006, who were taking cholesterol-lowering treatment took part in the study. Physicians recorded demographic and medical history data using a standardized questionnaire, including weight and height, and collected blood samples of patients to determine their cholesterol level. Results: 18.5% of patients attained their optimal goals of therapy (total cholesterol, TC; low-density lipoprotein cholesterol, LDL-C) in 2004 compared to 25.2% in 2006 (p < 0.001). In both 2004 and 2006, more patients achieved their target levels for LDL-C than for TC and statins were the most commonly used medication (85% and 91%, respectively). Male sex, smoking, and higher education were the strongest correlates of the therapeutic outcome. The odds ratio of achieving cholesterol therapy goals in men, non-smokers, and university graduates was estimated at 1.51, 0.70, 1.38 in 2004 and 1.50, 0.73, 1.34 in 2006, respectively. Conclusion: There was a measurable improvement in the effectiveness of hypercholesterolaemia treatment between 2004 and 2006 but the majority of patients remain inadequately treated, with goals not being achieved. There is a need to raise the standard of lipid-lowering management in Poland.