Minimal residual disease detection for acute lymphoblastic leukaemia in peripheral blood-Are we there yet?

Can peripheral blood be used to detect residual disease in acute lymphoblastic leukaemia (ALL) when we increase the sensitivity of the method used? Bendig et al. found that a larger amount of material and the use of next-generation sequencing (NGS) detects MRD in peripheral blood in up to half of patients with B-cell precursor ALL (BCP-ALL) where routine examination was negative. However, a negative result does not exclude the presence of residual disease and thus still limits the use of peripheral blood.

Malperfusion syndrome in patients undergoing repair for acute type A aortic dissection: Presentation, mortality, and utility of the Penn classification.

Background: The current study aims to report the presentation of the malperfusion syndrome in patients with acute type A aortic dissection admitted to surgery and its impact on mortality.

Methods: Data were retrieved from the multicenter European Registry of Type A Aortic Dissection. The Penn classification was used to categorize malperfusion syndromes.

Improvements in upper extremity isometric muscle strength, dexterity, and self-care independence during the sub-acute phase of stroke recovery: an observational study on the effects of intensive comprehensive rehabilitation.

Background: Stroke often impairs upper extremity motor function, with recovery in the sub-acute phase being crucial for regaining independence. This study examines changes in isometric muscle strength, dexterity, and self-care independence during this period, and evaluates the effects of a comprehensive intensive rehabilitation (COMIRESTROKE).

Methods: Individuals in sub-acute stroke recovery and age- and sex-matched controls were assessed for pre- and post-rehabilitation differences in primary outcomes (grip/pinch strength, Nine Hole Peg Test [NHPT], Action Research Arm Test [ARAT]).

Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (). This study further delineates the disease characteristics in a cohort of 20 individuals diagnosed through genome or exome sequencing, incorporating neurophysiological, laboratory and imaging data, along with data from previously reported cases across three different studies. Newly reported clinical features include hypermobility/hyperlaxity, axial weakness, dysmorphic signs, asymmetric presentation, dystonic features and, notably, upper motor neuron signs.

Immunogenic properties of nickel-doped maghemite nanoparticles and the implication for cancer immunotherapy.

Nanoparticles are commonly used in diagnostics and therapy. They are also increasingly being implemented in cancer immunotherapy because of their ability to deliver drugs and modulate the immune system. However, the effect of nanoparticles on immune cells involved in the anti-tumor immune response is not well understood.

Mutual Interactions of Silymarin and Colon Microbiota in Healthy Young and Healthy Elder Subjects.

Scope: This multi-omic study investigates the bidirectional interactions between gut microbiota and silymarin metabolism, highlighting the differential effects across various age groups. Silymarin, the extract from Silybum marianum (milk thistle), is commonly used for its hepatoprotective effects.

Methods And Results: An in vitro fermentation colon model was used with microbiota from 20 stool samples obtained from healthy donors divided into two age groups.

Atypical Manifestation of X-linked Agammaglobulinemia - the Importance of Genetic Testing.

X-linked agammaglobulinemia (XLA) was one of the first inborn errors of immunity to be described. It is caused by pathogenic variants in the gene for Bruton tyrosine kinase (BTK), which has important functions in B cell development and maturation. Recurrent bacterial infections in the first two years of life and hypogammaglobulinemia with absent B cells in male patients are the most common symptoms.

Cangrelor versus crushed ticagrelor in patients with acute myocardial infarction and cardiogenic shock: rationale and design of the randomised, double-blind DAPT-SHOCK-AMI trial.

Cardiogenic shock (CS) is a devastating and fatal complication of acute myocardial infarction (AMI). CS can affect the pharmacokinetics and pharmacodynamics of medications. The unique properties of cangrelor make it the optimal P2Y12 inhibitor for CS-AMI, in terms of both efficacy and safety.

Evolution and Prognostic Impact of Left Ventricular Myocardial Work Indices After Transcatheter Aortic Valve Replacement in Patients With Severe Aortic Stenosis.

Purpose: Left ventricular myocardial work (LVMW) has been shown to better characterize LV function in patients with severe aortic stenosis by correcting LV afterload. The aim of this study was to evaluate the evolution in LVMW indices after transcatheter aortic valve replacement (TAVR) and their prognostic value.

Methods: The following LVMW indices were calculated before and immediately after TAVR in 255 patients (median age 82 years, 51% male): global work index (GWI), global constructive work (GCW), global wasted work (GWW) and global work efficiency (GWE).

Transseptal Transition Patterns During Left Bundle Branch Area Lead Implantation.

Background: Continuous deep septal pacing and signal recording during implantation of left bundle branch pacing (LBBP) lead enables to monitor beat-to-beat changes of electrocardiogram (ECG) and myocardial current of injury (COI) as the lead crosses the septum.

Objectives: This study aimed to characterize patterns of continuous QRS, ST-T, and COI change for monitoring of the lead depth and instantaneous determination of the obtained capture type (LBBP vs left ventricular septal pacing [LVSP]).

Methods: The ECG and COI during lead implantation were scrutinized for sudden changes of V R-wave peak time, V initial and terminal R-wave amplitude, V-V R-wave amplitude, repolarization pattern and S-wave amplitude in I, V-V, and COI drop.

Efficacy of Platelet-Rich Plasma versus Mesotherapy with Recombinant Growth Factors and Stem Cell-Conditioned Media in Androgenetic Alopecia: A Retrospective Study.

Introduction: Androgenetic alopecia (AGA) is the most common type of hair loss. Platelet-rich plasma (PRP) and mesotherapy (MZT) injections of various solutions fortified with growth factors are popular treatment options for AGA. The aim of this study was to compare the efficacy of RPP and MZT products in the treatment of AGA.

21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form.

Aim: Despite the high sensitivity of neonatal screening in detecting the classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, one of the unclear issues is identifying asymptomatic children with late onset forms. The aim of this nationwide study was to analyse the association between genotype and screened level of 17-hydroxyprogesterone in patients with the late onset form of 21-hydroxylase deficiency and to quantify false negativity.

Methods: In the Czech Republic, 1,866,129 neonates were screened (2006-2022).

Convalescent anti-SARS-CoV-2 plasma for the treatment of patients with COVID-19: a retrospective study RESCOVID-19.

Purpose: Convalescent plasma (CP) collected from people who recovered from COVID-19 became a rapidly available treatment modality in numerous countries, including the Czech Republic. The aims of our study were to evaluate the effectiveness and safety of CP in the treatment of COVID-19.

Methods: This retrospective observational study involved six Czech hospitals.

Assessment of ventricular electrical heterogeneity in left bundle branch pacing and left ventricular septal pacing by using various electrophysiological methods.

Introduction: Left bundle branch area pacing (LBBAP) comprises pacing at the left ventricular septum (LVSP) or left bundle branch (LBBP). The aim of the present study was to investigate the differences in ventricular electrical heterogeneity between LVSP, LBBP, right ventricular pacing (RVP) and intrinsic conduction with different dyssynchrony measures using the ECG, vectorcardiograpy, ECG belt, and Ultrahigh frequency (UHF-)ECG.

Methods: Thirty-seven patients with a pacemaker indication for bradycardia or cardiac resynchronization therapy underwent LBBAP implantation.

Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort.

Background: Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare childhood cancer predisposition syndrome associated with a broad spectrum of malignancies, including non-Hodgkin lymphomas (NHL). Most patients die due to cancer before the age of 20 years. Limited data exist on CMMRD-associated lymphomas and their outcome.

Optimizing Corneal Transplant Safety: The Impact of Mandatory Prion Protein Testing on Iatrogenic Creutzfeldt-Jakob Disease Prevention in the Czech Republic.

Purpose: The purpose of this study was to assess the effectiveness of legally mandated testing for pathogenic prion proteins in corneal tissue donors in the Czech Republic, considering its impact on safety, financial, and temporal costs.

Methods: Between January 2007 and December 2023, standardized brain regions were collected from all corneal tissue donors in the Czech Republic. Tissue samples were tested for the presence of pathogenic prion proteins by the Czech Reference Laboratory for Human Prion Diseases.

Single or Double Induction With 7 + 3 Containing Standard or High-Dose Daunorubicin for Newly Diagnosed AML: The Randomized DaunoDouble Trial by the Study Alliance Leukemia.

Purpose: To determine the optimal daunorubicin dose and number of 7 + 3 induction cycles in newly diagnosed AML, this randomized controlled trial compared a once daily dose of 60 mg/m with 90 mg/m daunorubicin in the first 7 + 3 induction and one versus two cycles of 7 + 3 induction.

Patients And Methods: Patients age 18-65 years with newly diagnosed AML were randomly assigned to 60 versus 90 mg/m daunorubicin once daily plus cytarabine. Patients with marrow blasts below 5% on day 15 after first induction were randomly assigned to receive a second induction cycle or no second induction cycle.