Salivary glands - a new site of Helicobacter pylori occurrence.

Objective: The role of Helicobacter pylori (Hp) in the pathological processes of the gastric mucosa is well understood. Decreasing trend in successful eradication of HP from the stomach was observed in last years. This lack of succes is mainly caused by increasing ATB resistance.

Impact of routine extracorporeal cardiopulmonary resuscitation service on the availability of donor organs.

Background: In refractory cardiac arrest, extracorporeal cardiopulmonary resuscitation may increase the survival chance. However, in cases of unsuccessful treatment, extracorporeal cardiopulmonary resuscitation may additionally provide an important source of organ donors. Therefore, we hypothesized that implementing extracorporeal cardiopulmonary resuscitation service into a high-volume cardiac arrest center's routine would increases organ donors' availability.

Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia.

Schimke immuno-osseous dysplasia is a rare multisystemic disorder caused by biallelic loss of function of the SMARCAL1 gene that plays a pivotal role in replication fork stabilization and thus DNA repair. Individuals affected from this disease suffer from disproportionate growth failure, steroid resistant nephrotic syndrome leading to renal failure and primary immunodeficiency mediated by T cell lymphopenia. With infectious complications being the leading cause of death in this disease, researching the nature of the immunodeficiency is crucial, particularly as the state is exacerbated by loss of antibodies due to nephrotic syndrome or immunosuppressive treatment.

Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.

Background: Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of severe B-cell deficiency, with only 8 documented cases in the literature. Surprisingly, the first agammaglobulinemic patient identified by newborn screening (NBS) through quantification of kappa-deleting recombination excision circles harbored variants in IGLL1.

Objective: We comprehensively reviewed clinical and immunologic findings of patients with B-cell deficiency attributed to variants in IGLL1.

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms.

Anaesthesiologic Considerations for Intraoperative ECMO Anticoagulation During Lung Transplantation: A Single-Centre, Retrospective, Observational Study.

Extracorporeal membrane oxygenation (ECMO) is frequently used during lung transplantation. Unfractionated heparin (UFH) is mainly used as part of ECMO support for anticoagulation. One of the most common perioperative complications is bleeding, which high-dose UFH can aggravate.

Tumor-necrosis factor α-rich environment alters type-I interferon response to viral stimuli in patients with juvenile idiopathic arthritis by altering myeloid dendritic cell phenotype.

The balance between the tumor-necrosis factor α (TNFα) and type-I interferon (T1IFN) pathways is crucial for proper immune function. Dysregulation of either pathway can contribute to autoimmune diseases development. Even though TNFα blockade has shown promising results in various autoimmune diseases, the effect on the balance between TNFα and T1IFN is elusive.

Immunophenotyping of peripheral blood in NSCLC patients discriminates responders to immune checkpoint inhibitors.

Purpose: Immune checkpoint inhibitors (ICIs) dramatically changed the prognosis of patients with NSCLC. Unfortunately, a reliable predictive biomarker is still missing. Commonly used biomarkers, such as PD-L1, MSI, or TMB, are not quite accurate in predicting ICI efficacy.

Acidity Is an Excellent Marker of Infection in Hip and Knee Arthroplasty.

Background: The diagnosis of joint replacement infection is a difficult clinical challenge that often occurs when the implant cannot be salvaged. We hypothesize that the pH value of synovial fluid could be an important indicator of the inflammatory status of the joint. However, in the literature, there is a lack of data on the pH changes in hip and knee joint replacements and their relation to infection and implant failure.

Variant ALK-fusion positive anaplastic large cell lymphoma (ALCL): A population-based paediatric study of the NHL-BFM study group.

Frequency, distribution and prognostic meaning of ALK-partner genes other than NPM1 in ALK-positive anaplastic large-cell lymphoma (ALCL) are unknown. Forty-nine of 316 ALCL diagnosed in the NHL-BFM study group showed no nuclear ALK expression suggestive of a variant ALK-partner; 41 were analysed by genomic capture high-throughput sequencing or specific RT-PCRs. NPM1::ALK was detected in 13 cases.

Early Manifestation of Benign Paroxysmal Positional Vertigo: A Case Report.

Introduction: Benign paroxysmal positional vertigo (BPPV) is an inner ear disorder with a heterogeneous etiology, often linked to preceding infections, head injuries, or vestibular neuronitis. While it is commonly observed in the elderly, its occurrence in the pediatric population is rare. To our knowledge, there have been no reported cases of BPPV in patients younger than 5 years.

Effect of Asymptomatic and Symptomatic COVID-19 on Acute Ischemic Stroke Revascularization Outcomes.

Background: The association of COVID-19 with higher bleeding risk and worse outcomes in acute ischemic stroke (AIS) undergoing revascularization may be related to the presence of infection symptoms. We aimed to assess the safety and outcomes of revascularization treatments in patients with AIS with asymptomatic COVID-19 (AS-COVID) or symptomatic COVID-19 (S-COVID).

Methods: We conducted an international multicenter retrospective cohort study of consecutive AIS tested for SARS-CoV-2, receiving intravenous thrombolysis and endovascular treatment between 2020 and 2021.

Olfactory event-related potentials (OERPs) and trigeminal event-related potentials (TERPs) - a pilot study in Czech participants with normal sense of smell.

Introduction: In recent years, the evaluation of potential events related to olfactory events (OERPs) and trigeminal events (TERPs) has become increasingly important in the diagnosis of olfactory disorders. This technique is increasingly used in basic research and clinical practice to evaluate people suffering from olfactory disorders.

Purpose Of The Study: In a pilot project of the first investigations of OERPs and TERPs in the Czech Republic, we analyse the event-related potentials of the data of normosmic participants.

Monitoring of ECFS quality standards for the clinical management of adults with cystic fibrosis.

Background: Although cystic fibrosis (CF) standards of care have been produced and regularly updated, they are not specifically targeting at the adult population. The ECFS Standards of Care Project established an international task force of experts to identify quality standards for adults with CF and assess their adherence.

Methods: This study was composed of two phases.

Total neoadjuvant therapy in rectal cancer: the evidence and expectations.

Current management of locally advanced rectal cancer achieves high cure rates, distant metastatic spread being the main cause of patients' death. Total neoadjuvant therapy (TNT) employs (chemo)radiotherapy and combined chemotherapy prior to surgery to improve the treatment outcomes. TNT has been shown to reduce significantly distant metastases, increase disease-free survival by 5 - 10% in 3 years, and finally also overall survival (≈ 5% in 7 years).

Expanded population of low-density neutrophils in juvenile idiopathic arthritis.

Introduction: Juvenile idiopathic arthritis (JIA), a clinically variable disease characterized by autoimmune arthritis, affects children, and its immunopathology remains elusive. Alterations in neutrophil biology play an important role in this disease. In the present study, we aimed to explore the features of low-density neutrophils (LDNs) in patients with JIA.

The Cost-Effectiveness of Pertuzumab for the Treatment of Metastatic HER2+ Breast Cancer in Czechia: A Semi-Markov Model Using Cost States.

Objectives: This article estimates the cost-effectiveness of adding pertuzumab to the combination of trastuzumab and docetaxel within the first-line treatment for metastatic breast cancer with the amplification of HER2+.

Methods: Data from Czech clinical practice recorded in the BREAST register are used. A semi-Markov model with states derived based on the treatment phases (first-line medication, no medication, next-line medication, death) is defined to estimate costs from the healthcare payers' perspective.