Aim of the study: Assessing a relationship between the negative symptoms and deficits in emotion recognition and theory of mind (ToM) as well as social functioning, in chronic schizophrenia patients.Subject or material and methods: Twenty patients with schizophrenia (10 male, 10 female), aged 36+11 years, with mean duration of the illness of 13+9 years, were studied during improvement period, stabilized on medications for at least 3 months. For the assessment of symptoms, the Positive and Negative Symptoms Scale (PANSS) and the Brief Negative Symptoms Scale (BNSS) were used. Emotion recognition was measured by the Facial Emotion Identification Test (FEIT) and ToM - by the Reading Mind in the Eyes (R-MET) test. Patients' social functioning was evaluated by the Personal and Social Performance Scale (PSP).Results: Significant correlations were obtained between the negative symptoms of PANSS and BNSS, and the results of FEIT and R-MET. Association between BNSS and FEIT was observed for anhedonia, distress, asociality, avolition, blunted affect, alogia, and with R-MET, for distress, emotional blunting and alogia. Both PANSS and BNSS negative symptoms significantly correlated with the results of PSP.Discussion: The results correspond to those of recent studies showing a priority of negative over positive symptoms in determining deficits in social cognition and functioning in chronic schizophrenia.Conclusions: All domains of negative symptoms assessed by the BNSS correlated with deficits in emotion recognition and of social functioning and some domains correlated with the measure of the ToM.

Gastrointestinal stromal tumor is the most common mesenchymal neoplasm of the gastrointestinal tract, usually found in elderly adults. It is infrequent among pediatric patients and usually differs biologically from adult-type diseases presenting mutations of KIT and PDGFR genes. In this population, more frequent is the wild-type GIST possessing SDH, TRK, RAS, NF1 mutations, among others. Both tumor types require individualized treatment with kinase inhibitors that are still being tested in the pediatric population due to the different neoplasm biology. We review the latest updates to the management of pediatric gastrointestinal tumors with a particular focus on the advances in molecular biology of the disease that enables the definition of possible resistance. Emerging treatment with kinase inhibitors that could serve as targeted therapy is discussed, especially with multikinase inhibitors of higher generation, the effectiveness of which has already been confirmed in the adult population.

Ataxia-telangiectasia (AT) is a multisystemic neurodegenerative inborn error of immunity (IEI) characterized by DNA repair defect, chromosomal instability, and hypersensitivity to ionizing radiation. Impaired DNA double-strand break repair determines a high risk of developing hematological malignancies, especially lymphoproliferative diseases. Poor response to treatment, excessive chemotherapy toxicities, and the need for avoiding exposure to ionizing radiation make the successful clinical management of patients with AT challenging for oncologists. We describe the favorable outcome of the LBCL with IRF4 rearrangement at stage III in a 7-year-old female patient diagnosed with AT. The patient was treated according to the B-HR arm of the INTER-B-NHL-COP 2010 protocol, including the administration of rituximab, cyclophosphamide, methotrexate, prednisone, etc. She presented excessive treatment toxicities despite individually reduced doses of methotrexate and cyclophosphamide. However, in the MRI there was no significant reduction in pathologic lymph nodes after three immunochemotherapy courses. Therefore, a lymph node biopsy was taken. Its subsequent histopathological examination revealed tuberculosis-like changes, though tuberculosis suspicion was excluded. After two following immunochemotherapy courses, PET-CT confirmed complete remission. From March 2022 onwards, the patient has remained in remission under the care of the outpatient children’s oncology clinic.

Magnetic resonance imaging (MRI) of the chest is becoming more available in the detection and monitoring of early changes in lung function and structure in patients with cystic fibrosis (CF). The aim of this study was to assess the relationship between pulmonary function tests (PFT) and perfusion deficits in CF children measured by MRI. We performed a retrospective analysis of the perfusion lung MRI scans and the results of spirometry, oscillometry, body plethysmography, single-breath carbon monoxide uptake, and multiple-breath washout technique (MBW). There were statistically significant correlations between the MRI perfusion scores and MBW parameters (2.5% LCI, M1/M0, M2/M0), spirometry parameters (FEV₁, FVC, FEF25/75), reactance indices in impulse oscillometry (X5Hz, X10Hz), total lung capacity (TLC) measured in single breath carbon monoxide uptake, markers of air-trapping in body plethysmography (RV, RV/TLC), and the diffusing capacity of the lungs for carbon monoxide. We also observed significant differences in the aforementioned PFT variables between the patient groups divided based on perfusion scores. We noted a correlation between markers of functional lung deficits measured by the MRI and PFTs in CF children. MRI perfusion abnormalities were reflected sooner in the course of the disease than PFT abnormalities.

Immune thrombocytopaenia (ITP) is the most common cause of acquired thrombocytopaenia diagnosed in paediatric patients. It is described as an isolated thrombocytopaenia without other factors, which may cause a decrease in platelets. Therefore, the diagnosis is of exclusion. Over the last few...

Ostra białaczka szpikowa jest nowotworem złośliwym układu krwiotwórczego, w patogenezie której centralną rolę pełnią mutacje genów kontrolujących dojrzewanie i apoptozę komórek progenitorowych szpiku. Istotna rokowniczo jest mutacja w genie ASXL1, którego produkt białkowy bierze udział w regulacji ekspresji genów. Jest ona negatywnym czynnikiem prognostycznym i predykcyjnym. Szacuje się, że mutacja genu ASXL1 występuje u 14,4-19,1% pacjentów z AML i jest częstsza u mężczyzn powyżej 60 roku życia. Aberracje chromosomów 8 i 11 często współwystępują z mutacją genu ASXL1 w AML i mogą stanowić dodatkową, istotną prognostycznie informację. Leczenie chorych z AML dopasowywane jest do pacjenta w zależności od grupy ryzyka, zmian kariotypu oraz współistniejących mutacji. Duża liczba chorych nie kwalifikuje się do allo-HSCT, choć ta metoda znacznie poprawia przeżywalność pacjentów z AML z mutacją genu ASXL1. Zastosowanie w terapii tych pacjentów może mieć również gilterytynib, jednak mnogość towarzyszących mutacji zmusza do bazowania na chemioterapii opartej na niespecyficznych lekach cytotoksycznych. Celem pracy jest podsumowanie najważniejszych informacji dotyczących patogenezy, cech szczególnych, diagnostyki i terapii AML z współistniejącą mutacją ASXL1.