Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population

Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease. A total of 141 children with steroid-resistant nephrotic syndrome (SRNS) were enrolled in the study. Mutational analysis included the entire coding sequence and intron boundaries of the NPHS2 gene. Restriction fragment length polymorphism (RFLP) and TaqMan genotyping assay were applied to detect selected NPHS2 sequence variants in 575 population-matched controls. Twenty patients (14 %) had homozygous or compound heterozygous NPHS2 mutations, the most frequent being c.1032delT found in 11 children and p.R138Q found in four patients. Carriers of the c.1032delT allele were exclusively found in the Pomeranian (Kashubian) region, suggesting a founder effect origin. The 14 % NPHS2 gene mutation detection rate is similar to that observed in other populations. The heterogeneity of mutations detected in the studied group confirms the requirement of genetic testing the entire NPHS2 coding sequence in Polish patients, with the exception of Kashubs, who should be initially screened for the c.1032delT deletion

Protection of Internally Displaced Persons: An International Legal Obligation?

This article examines the phenomenon of internal displacement from the perspective of the existing legal framework and those measures which should guarantee protection for internally displaced populations worldwide. With this aim in mind, the article begins by assessing the role of international law and try to ascertain which legal norms are applicable to protect internally displaced persons. As a second step, it analyzes the question of responsibility for the protection of internally displaced persons, i.e. whether this lies with the state of origin through its national law, or rather with the international community, and examines the relevant provisions of international law. While concluding and identifying the existing gaps in the current legislation, the article demonstrates that internally displaced persons should become the objects of a specific system of law and legal protection. At the same time, the text intends to contribute to the contemporary debate promoting efforts to strengthen the protection of internally displaced persons and to disseminate knowledge about this vulnerable group of people

The state of internal displacement : in search of protection for internally displaced persons

Defence date: 7 July 2014Examining Board: Professor Francesco Francioni, European University Institute (Supervisor) Professor Nehal Bhuta, European University Institute Professor Władysław Czapliński, Polish Academy of Sciences Professor Federico Lenzerini, University of Siena.Internal displacement is one of the most pressing humanitarian, human rights and security problems faced today by the international community. As a rapidly increasing phenomenon, internal displacement is putting intense pressure on international law and its capacity for adaptation to new realities and challenge. The present thesis aims at examining the phenomenon of internal displacement and concentrates in particular on the legal and institutional framework and measures guaranteeing protection for internally displaced populations worldwide. Toward this goal, I assess the role of international law and try to ascertain which legal norms are applicable to protect internally displaced persons. As a second step, I analyze the question of responsibility for the protection of internally displaced persons, i.e. whether this lies with the state of origin through its national law, or rather with the international community and the provisions of international law. Further, I discuss the activities and actions of the international and regional organisations, i.e. the European Union and relevant bodies of the United Nations, and their contribution to the protection of internally displaced persons. Although the protection of internally displaced should be based in law, it requires institutional mechanisms and actors to give it practical effect. While concluding and identifying the existing gaps in legislation and institutional framework, I demonstrate that internally displaced persons should become the objects of a specific system of law and protection. At the same time, I hope to contribute to the contemporary debate promoting efforts to strengthen the protection of internally displaced persons and to disseminate knowledge about this vulnerable group

Polish adaptation of multisource assessment of children’s social competence

Abstract This study aimed to adapt the Multisource Assessment of Social Competence Scale for the Polish population. The population examined in the study included only Polish participants of European (Caucasian) ancestry. The tool is composed of two scales, Prosocial and Antisocial, and four subscales. For the purpose of adaptation, children’s social competence was evaluated based on their own and their parents’ perspective. The sample consisted of children aged 9–15 (n = 253) and their parents (n = 248), with boys and girls accounting for 43% (n = 109) and 57% (n = 144) of child participants, respectively. All the participants originated from the western-central Greater Poland Voivodeship. The data analyzed in this study were collected in 2019. Internal consistency of the subscales and correlation between them were measured using Cronbach’s Alpha reliability coefficient and Spearman's correlation coefficient, respectively. Confirmatory factor analysis was conducted for both groups (children and parents) in two-, three- and four-factor models. The confirmatory factor analysis for both groups (children and parents) attributed the four-factor model with the highest goodness-of-fit, fulfilling the criteria of a good-fitting model. The results show that the Multisource Assessment of Children’s Social Competence Scale is an appropriately adapted tool for the evaluation of the social competence of children in Poland, taking different rater perspectives into account

Comparison of cuff-based and cuffless continuous blood pressure measurements in children and adolescents

Objective In recent times, new methods of blood pressure measurements have been introduced, including cuffless blood pressure (BP) measurement device using pulse transit time (PTT) for calculation of BP values. However, it is still unknown how values obtained with a new cuffless device compare with standard ambulatory measurements in children. The main aim of the study was to investigate whether BP values measured by a cuffless PTT device are comparable with measurements by a standard upper arm cuff-based BP device. Methods Thirty children were prospectively included. Blood pressure measurements using the cuffless device (Somnotouch-NIBP) and cuff-based standard device (Omron 907) were performed simultaneously on the left and right arm. Results Mean systolic BP of the standard measurements was 123,47 ± 14,91 mmHg and 127,48 ± 15,98 mmHg (p < .001) measured by cuffless method. Mean diastolic BP of the standard ABPM measurements was 66,88 ± 11,86 mmHg and 68,52 ± 12,36 mmHg (p < .001). There were significant positive correlations between standard and cuffless measurements. Conclusion The results show that the created PWV–BP function produces a significant correlation between BP derived from the PWV and the SBP measured by sphygmomanometry. When applying this device in clinical practice, one may keep in mind that the reported mean values over 24 hours, awake and asleep time are not directly interchangeable with cuff-based standard 24-hour BP values. The measured BP values were higher by the new technique. Although differences in SBP between both methods reached values up to 20 mmHg, we think that the development of a cuffless BP monitoring system will provide novel solutions in various medical situations