Prognostic Impact of Copy Number Alterations' Profile and AID/RAG Signatures in Acute Lymphoblastic Leukemia (ALL) with BCR::ABL and without Recurrent Genetic Aberrations (NEG ALL) Treated with Intensive Chemotherapy.

Adult acute lymphoblastic leukemia (ALL) is associated with poor outcomes. ALL is initiated by primary aberrations, but secondary genetic lesions are necessary for overt ALL. In this study, we reassessed the value of primary and secondary aberrations in intensively treated ALL patients in relation to mutator enzyme expression.

Developing an effective and comprehensive communication curriculum for undergraduate medical education in Poland - the review and recommendations.

Background: The recognition of the importance of effective communication in the healthcare system has been growing. Given that communication courses must be adjusted to the specificity of a particular culture, language, and other contextual issues, many countries and communities sharing a common language have proposed their recommendations for a communication curriculum for undergraduate medical education. To date, no recommendations have been developed for either any Central and Eastern Europe countries or for regions where Slavic languages are spoken.

Patients' Expectations and Preferences for the Organizational Conditions of the Colorectal Cancer Screening Programme in Poland: A Qualitative Analysis.

(1) Background: Colorectal cancer (CRC) is a serious health problem in Poland as well as many European Union countries. The study aimed to describe factors that, from the patient's perspective, could increase the attendance rate and regularity of participation in the colorectal cancer screening programme (SP); (2) Methods: The qualitative approach was applied. The study involved six focus interviews conducted with 24 respondents (12 women and 12 men) aged 40-49, who had at least one first-degree family member diagnosed with CRC and persons aged 50-65, living in five selected voivodships (provinces) of Poland.

Mother's Loneliness: Involuntary Separation of Pregnant Women in Maternity Care Settings and Its Effects on the Experience of Mothers during the COVID-19 Pandemic.

The aim of the study was to investigate the challenges of involuntary separation experienced by women during pregnancy and childbirth in the time of the COVID-19 pandemic. The study was conducted by the means of a self-administered questionnaire. One thousand and eleven women (1011) from Poland took part in the study, with an average age of approximately 30 years.

Shared decision-making in Poland: State of the art, challenges and opportunities.

The purpose of the present paper is to review the progress in recognition and implementation of shared decision-making (SDM) practice in the Polish health care system. In Poland, equal access to health care is a constitutional right. The foundations for SDM practice within the Polish health care system are laid in legislation regulating the professions of doctors and dentists, as well as patients' rights, which assert the duty of physicians to provide clear and patient-adjusted information on diagnostic and treatment options, health status and prognosis before obtaining consent.

Aptamers-Diagnostic and Therapeutic Solution in SARS-CoV-2.

The SARS-CoV-2 virus is currently the most serious challenge to global public health. Its emergence has severely disrupted the functioning of health services and the economic and social situation worldwide. Therefore, new diagnostic and therapeutic tools are urgently needed to allow for the early detection of the SARS-CoV-2 virus and appropriate treatment, which is crucial for the effective control of the COVID-19 disease.

Overcoming therapeutic nihilism. Breaking bad news of amyotrophic lateral sclerosis-a patient-centred perspective in rare diseases.

Amyotrophic lateral sclerosis (ALS) is a rare, incurable, and fatal neurodegenerative disease with median survival time from onset to death ranging from 20 to 48 months. Breaking bad news about ALS diagnosis is a challenging task for physicians and a life-changing experience for patients. Several protocols for delivering difficult information are available, including SPIKES and EMPATHY.

2021 Update on MRD in acute myeloid leukemia: a consensus document from the European LeukemiaNet MRD Working Party.

Measurable residual disease (MRD) is an important biomarker in acute myeloid leukemia (AML) that is used for prognostic, predictive, monitoring, and efficacy-response assessments. The European LeukemiaNet (ELN) MRD Working Party evaluated standardization and harmonization of MRD in an ongoing manner and has updated the 2018 ELN MRD recommendations based on significant developments in the field. New and revised recommendations were established during in-person and online meetings, and a 2-stage Delphi poll was conducted to optimize consensus.

IDH2 mutations in patients with normal karyotype AML predict favorable responses to daunorubicin, cytarabine and cladribine regimen.

Mutations in isocitrate dehydrogenase 1 and 2 (IDH1/2) genes occur in about 20% patients with acute myeloid leukemia (AML), leading to DNA hypermethylation and epigenetic deregulation. We assessed the prognostic significance of IDH1/2 mutations (IDH1/2) in 398 AML patients with normal karyotype (NK-AML), treated with daunorubicine + cytarabine (DA), DA + cladribine (DAC), or DA + fludarabine. IDH2 mutation was an independent favorable prognostic factor for 4-year overall survival (OS) in total NK-AML population (p = 0.

Management of Prader-Willi Syndrome (PWS) in adults - what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology.

Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by a set of phenotypic traits, which include infantile hypotonia, short stature, and morbid obesity. Over the last 12 years, visible progress has been made in medical care management of PWS patients in Poland. Increasing awareness of the disorder in neonatal and paediatric care has led to early identification of the condition in neonates, followed by the institution of an appropriate dietary regime, introduction of physiotherapy, and early-onset recombinant human growth hormone (rhGH) treatment.

Successful Use of Nilotinib in the Therapy of a Patient with a Chemoresistant Relapse of BCR-ABL1-Like Phenotype Acute Lymphoblastic Leukemia.

Introduction: Relapse of acute lymphoblastic leukemia (ALL) after allogeneic hematopoietic cell transplantation (HCT) is a therapeutic challenge. We present the case of a 20-year-old patient with a relapse of Philadelphia chromosome-negative ALL B-common over 2 years after HCT with no response to salvage chemotherapy or blinatumomab, who finally responded to a molecularly tailored therapy adjusted to the BCR-ABL1-like phenotype.

Methods: The BCR-ABL1-like phenotype was diagnosed on the basis of an increased expression of ABL1 and CRLF2 genes.

CEBPA copy number variations in normal karyotype acute myeloid leukemia: Possible role of breakpoint-associated microhomology and chromatin status in CEBPA mutagenesis.

Copy number variations (CNV) in CEBPA locus represent heterogeneous group of mutations accompanying acute myeloid leukemia (AML). The aim of this study was to characterize different CEBPA mutation categories in regard to biological data like age, cytology, CD7, and molecular markers, and identify possible factors affecting their etiology. We report here the incidence of 12.

Promoter DNA methylation and expression levels of HOXA4, HOXA5 and MEIS1 in acute myeloid leukemia.

HOXA genes encode transcription factors, which are crucial for embryogenesis and tissue differentiation and are involved in the early stages of hematopoiesis. Aberrations in HOXA genes and their cofactor MEIS1 are found in human neoplasms, including acute myeloid leukemia (AML). The present study investigated the role of HOXA4, HOXA5 and MEIS1 promoter DNA methylation and mRNA expression in AML.

Comparison of promoter DNA methylation and expression levels of genes encoding CCAAT/enhancer binding proteins in AML patients.

CCAAT/enhancer binding proteins (CEBPs) are transcription factors regulating myeloid differentiation. Disturbances of their expression may contribute to leukemogenesis. In this study we compared promoter methylation and expression levels of selected CEBP genes in a group of 78 AML patients, normal bone marrow and hematopoietic precursor cells.

Repetitive genomic elements and overall DNA methylation changes in acute myeloid and childhood B-cell lymphoblastic leukemia patients.

Aberrant epigenetic regulation is a hallmark of neoplastic cells. Increased DNA methylation of individual genes' promoter regions and decreases in overall DNA methylation level are both generally observed in cancer. In solid tumors, this global DNA hypomethylation is related to reduced methylation of repeated DNA elements (REs) and contributes to genome instability.

Receptor kinase profiles identify a rationale for multitarget kinase inhibition in immature T-ALL.

Constitutively activated FLT3 signaling is common in acute myeloid leukemia, and is currently under evaluation for targeted therapy, whereas little data is available in T-cell acute lymphoblastic leukemia (T-ALL). We analyzed 357 T-ALL cases for FLT3 mutations and transcript expression. FLT3 mutations (3% overall) and overexpression (FLT3 high expresser (FLT3(High))) were restricted to immature/TCRγδ T-ALLs.

[Methods of rapid prototyping in preoperative planning in musculoskeletal reconstructive surgery].

Rapid Prototyping and CT based 3D modelling implementation in orthopaedic reconstructive surgery is presented in the article. Bone models rendered in SLS (Selective Laser Sintering) were used in pre-operative planning. Physical models were made based on imaging data obtained in standard CT scans.

Internal fixation with bone cement in reconstruction of bone defects due to bone metaseses.

Background. Retrospective evaluation of surgical technique, clinical and radiological results and mechanical sufficiency internal fixation with bone cement in treatment of bone defect due to metastatic lesions. Material and methods.

Total hip arthroplasty through a minimally invasive lateral approach--our experience and early results.

Aims: Evaluation of: 1. early clinical and radiographic results of total hip arthroplasty (THA) through a standard lateral direct approach, 2. early clinical and radiographic results of THA through a minimal lateral approach, 3.

DEK-CAN molecular monitoring of myeloid malignancies could aid therapeutic stratification.

The t(6;9)(p23;q34) is a recurrent chromosomal abnormality observed in 1% of acute myelogenous leukemia (AML), which generates a fusion transcript between DEK and CAN/NUP214 genes. We used a DEK-CAN real-time quantitative (RQ)-PCR strategy to analyze 79 retrospective and prospective samples from 12 patients. Five patients reached DEK-CAN negativity (sensitivity 10(-5)); all underwent early allogeneic hematopoietic stem cell transplantation (median 5.

The effect of beta-carotene and its derivatives on cytotoxicity, differentiation, proliferative potential and apoptosis on the three human acute leukemia cell lines: U-937, HL-60 and TF-1.

The influence of beta-carotene (BC) and its derivatives on differentiation, proliferation and apoptosis in three human acute leukemia cell lines was studied. We investigated: (i) the cellular uptake of BC, (ii) the cytotoxicity, (iii) the effect on cell cycle progression and/or apoptosis. The dose- and time-dependent pattern of cellular BC uptake in all studied cell lines was seen.

[Effect of osteonecrosis on bone density and its management on the results of revision arthroplasty of the hip].

128 hips after revision arthroplasty in 115 patients which had been operated in our Ward in 1990-2001 were retrospectively evaluated. There were 99 women and 16 men with mean age: 68.9 years old.

Age-related phenotypic and oncogenic differences in T-cell acute lymphoblastic leukemias may reflect thymic atrophy.

Postnatal thymic involution occurs progressively throughout the first 3 decades of life. It predominantly affects T-cell receptor (TCR) alphabeta-lineage precursors, with a consequent proportional increase in multipotent thymic precursors. We show that T-acute lymphoblastic leukemias (T-ALLs) demonstrate a similar shift with age from predominantly TCR expressing to an immature (IM0/delta/gamma) stage of maturation arrest.