Zamiast (jednego) scenariusza. Plan daltoński – edukacja nakierowana na potrzeby dziecka (edukacja wczesnoszkolna)

Projekt dofinansowany ze środków UE, w ramach Programu Operacyjnego Wiedza Edukacja Rozwój 2014-2020. Oś Priorytetowa II Efektywne Polityki Publiczne dla Rynku Pracy, Gospodarki i Edukacji, Działania 2.10 Wysoka jakość systemu oświat

The Polish Version of the Alberta Infant Motor Scale: Cultural Adaptation and Validation

The Alberta Infant Motor Scale (AIMS) is a diagnostic tool for the assessment of the motor performance of infants from the time of birth, to the period of independent walking (0–18 months). This study aims to derive a Polish version of the AIMS through its cultural adaptation and validation. The study included 145 infants aged 0–18 months, who were divided into four further age groups: 0–3 months, 4–7 months, 8–11 months, and older than 12 months. The validation was based on an analysis of intrarater and interrater reliability values, as well as concurrent validity, using the gross motor scale of Peabody Developmental Motor Scales-2 (PDMS-2). The total Intraclass Correlation Coefficient (ICC) for intrarater reliability was 0.99 (ICC range in positions was 0.87–0.99, in subgroups was 0.91–0.99), while in particular positions, the ICC ranges were as follows: prone 0.97–0.99, supine 0.94–0.99, sitting 0.95–0.99, and standing: 0.63–0.99. The total ICC for interrater reliability was 0.99 (ICC range in positions was 0.98–0.99, in subgroups was 0.91–0.99), while in particular positions, the ICC ranges were as follows: prone 0.95–0.99, supine 0.93–0.96, sitting 0.93–0.98, standing 0.91–0.98. Only the standing position was analyzed for the subgroup of participants over 12 months old. The Spearman correlation between the Polish version of the AIMS and the gross motor scale of PDMS-2 was significant in the total population (r = 0.97, p < 0.0001) and in subgroups (r = 0.79–0.85, p < 0.0001). The results of our study confirm that the Polish version of the AIMS is reliable for infants aged 0–18 months and can be applied to this population for clinical and scientific purposes.Trial RegistryClinicalTrials.gov ID NCT05264064, URL https://clinicaltrials.gov/ ct2/show/NCT05264064

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

Objectives: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband’s prenatal examination. Maretial and methods: Nine family members were tested for TBX5 gene mutation. Results: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results. The diagnosis allowed to identify a genetic risk family and enabled to provide them with genetic counselling. Conclusions: Diagnosis of Holt-Oram syndrome is possible as early as in prenatal period and it can be verified by genetic tests

Smets-Wouters '03 model revisited - an implementation in gEcon

This paper presents an implementation of the well-known Smets-Wouters 2003 model for Euro Area using the gEcon package - what we call the ``third generation'' DSGE modelling toolbox. Our exercise serves three goals. First, we show how gEcon can be used to implement an important - from both applications and historical perspective - model. Second, through rigorous exposition enforced by the gEcon’s block-agent paradigm we analyse all the Smets-Wouters model’s building blocks. Last, but not least, the implementation presented here serves as a natural starting point for important from applications point of view extensions, like opening the economy, introducing non-lump-sum taxes, or adding sectors to the model economy. Full model implementation is attached

The long term benefit of cardiac rehabilitation program after myocardial infarction in patients under Managed Care for Acute Myocardial Infarction Survivors (MACAMIS) program in Poland: A single center study

BACKGROUND: Managed Care for Acute Myocardial Infarction Survivors (MACAMIS) program introduced for patients after myocardial infarction (MI) consists of 4 modules including early cardiac rehabilitation (CR). AIMS: We compared the impact of CR on survival of patients after MI included in the MACAMIS program.  METHODS: Patients in MACAMIS were divided into subgroups based on being or not qualified for CR and whether completed or failed to complete CR. We evaluated one-, two- and three-year mortality. RESULTS: Out of 244 patients in MACAMIS, 174 patients were qualified for CR. They were younger, had less advanced coronary artery disease (CAD), higher ejection fraction (EF) and fewer comorbidities. Finally 102 (58.6%) patients completed CR. These patients were younger, more likely had STEMI, more often were treated invasively with no differences in comorbidity burden. Survival rate at one, two, and three years was 93.6%, 87.8%, and 65.0% respectively. Patients qualified for CR had better prognosis. The mortality rate at one, two and three years were 2.38% vs. 16.18%, P = 0.0003, 6.71% vs. 25.4%, P = 0.002 and 26.87% vs. 51.35%, P = 0.01 respectively. Patients who completed CR again had significantly better prognosis. The mortality rate was 1% vs. 10.29%, P = 0.009, 4.17% vs. 17.56%, P = 0.002 and 23.33% vs. 40.54%, P = 0.09 at analysed periods. The only independent factors related to survival were completion of CR and number of comorbidities. CONCLUSIONS: Patients with MI in MACAMIS program had better prognosis when participating in CR. After completion MACAMIS program the increased mortality was observed in consecutive years. In spite of flexible CR program the proportion of patients qualified and competed CR remains low

The Former Gestapo Headquarters and the Provincial Office of Public Security in Anstadt Avenue in Łódź Interdisciplinary Site Research

The paper discusses the research me­thods and the most important results of the interdisciplinary project “The Former Gestapo Headquarters and the Provincial Office of Public Security in Anstadt Avenue in Łódź. Interdisciplinary Site Research” conducted in 2019–2021. Considering the challenges faced by the archaeology of the contemporary past, a subdiscipline of archaeology, an attempt was made to link the results of archaeological research to the relatively well-known historical context of structural and functional transformations of the site explored, mostly the establishment of a Jewish school in Anstadt Avenue at the end of the 1930s, the operation of the Gestapo headquarters during the Second World War and of the communist Provincial Office of Public Security after the war, and the division of the site into police and school sections in 1957, which has been preserved to date. Also ethno­graphic research was carried out, which identified sources referring to the forms of remembrance and commemoration of places, events, and people. The Authors hope that the archaeological research will be soon resumed on account of the planned investments, allowing to publish a complementary and interdisciplinary monograph of the site explored

Position effects at the FGF8 locus are associated with femoral hypoplasia

Copy-number variations (CNVs) are a common cause of congenital limb malformations and are interpreted primarily on the basis of their effect on gene dosage. However, recent studies show that CNVs also influence the 3D genome chromatin organization. The functional interpretation of whether a phenotype is the result of gene dosage or a regulatory position effect remains challenging. Here, we report on two unrelated families with individuals affected by bilateral hypoplasia of the femoral bones, both harboring de novo duplications on chromosome 10q24.32. The ∼0.5 Mb duplications include FGF8, a key regulator of limb development and several limb enhancer elements. To functionally characterize these variants, we analyzed the local chromatin architecture in the affected individuals’ cells and re-engineered the duplications in mice by using CRISPR-Cas9 genome editing. We found that the duplications were associated with ectopic chromatin contacts and increased FGF8 expression. Transgenic mice carrying the heterozygous tandem duplication including Fgf8 exhibited proximal shortening of the limbs, resembling the human phenotype. To evaluate whether the phenotype was a result of gene dosage, we generated another transgenic mice line, carrying the duplication on one allele and a concurrent Fgf8 deletion on the other allele, as a control. Surprisingly, the same malformations were observed. Capture Hi-C experiments revealed ectopic interaction with the duplicated region and Fgf8, indicating a position effect. In summary, we show that duplications at the FGF8 locus are associated with femoral hypoplasia and that the phenotype is most likely the result of position effects altering FGF8 expression rather than gene dosage effects.M.S. and A.S.-S. were supported by the Polish National Science Centre (UMO-2016/23/N/NZ2/02362 to M.S. and UMO-2016/21/D/NZ5/00064 to A.S.-S.). A.S.-S. was also supported by the Polish National Science Centre scholarship for PhD students (UMO-2013/08/T/NZ2/00027). C.L. is supported by postdoctoral Beatriu de Pinós from Secretaria d’Universitats I Recerca del Departament d’Empresa i Coneixement de la Generalitat de Catalunya and by the Marie Sklodowska-Curie COFUND program from H2020 (2018-BP-00055). A.J. was supported by the Polish National Science Centre (UMO-2016/22/E/NZ5/00270) as well as the Polish National Centre for Research and Development (LIDER/008/431/L-4/12/NCBR/2013). M.S. is supported by grants from the Deutsche Forschungsgemeinschaft (DFG) (SP1532/3-1, SP1532/4-1, and SP1532/5-1), the Max Planck Foundation, and the Deutsches Zentrum für Luft- und Raumfahrt (DLR 01GM1925)

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

<p>Abstract</p> <p>Background</p> <p>Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of a syndrome. Isolated BDE is rare and in the majority of cases the molecular pathogenesis has so far not been resolved. Originally, the molecular cause of isolated BDE has been unravelled in 2 families and shown to result from heterozygous missense mutations in the homeodomain of the <it>HOXD13 </it>gene. Since the initial manuscript, one further <it>HOXD13 </it>mutation has been reported only in a single family manifesting isolated BDE.</p> <p>Case Presentation</p> <p>In this paper, we report on a Polish family exhibiting isolated BDE caused by a novel nonsense heterozygous <it>HOXD13 </it>mutation. We investigated a Polish female proband and her father, both affected by isolated BDE, in whom we identified a nonsense heterozygous mutation c.820C > T(p.R274X) in the <it>HOXD13 </it>gene. So far, only two missense <it>HOXD13 </it>substitutions (p.S308C and p.I314L), localized within the homeodomain of the HOXD13 transcription factor, as well as a single nonsense mutation (p.E181X) were associated with BDE. Both missense changes were supposed to alter DNA binding affinity of the protein.</p> <p>Conclusion</p> <p>The variant p.R274X identified in our proband is the fourth <it>HOXD13 </it>mutation, and the second truncating (nonsense) mutation, reported to result in typical isolated BDE. We refer our clinical and molecular findings to the previously described <it>HOXD13 </it>associated phenotypes and mutations.</p