Alpha-1-antitrypsin deficiency (AATD) is one of the most common genetic disorders in adults. It is usually associated with the early development of chronic obstructive pulmonary disease (COPD) or liver damage. We discuss how modern substitution therapy can change patients' prognosis and when to consider this diagnosis with the head of the Clinic of Pulmonary Diseases and Tuberculosis at Masaryk University Faculty of Medicine and Brno University Hospital, Doc. MUDr. Milan Sova, Ph.D.

Baricitinib selectively and reversibly inhibits Janus kinases JAK1 and JAK2 and is used in the treatment of adults with active rheumatoid arthritis (RA). Its safety during long-term administration has already been demonstrated by previous analyses, with treatment durations of up to 7 years. Equally important is the long-term efficacy of this drug, which was the focus of work presented in June of this year at the annual European rheumatology congress EULAR 2020.

The international registry of individuals with alpha-1 antitrypsin deficiency (AATD) named EARCO has collected data on 1,044 patients from 15 countries, including the Czech Republic, over its first 2 years of existence. In December 2022, the characteristics of patients enrolled from February 2020 to May 2022 were published. They provide information on the prevalence of AATD genotypes, their clinical phenotypes, factors associated with worsening lung function, and the impact of augmentation therapy.

Early neutropenia with thrombocytopenia is not a common side effect of alemtuzumab. However, the patient in the following case report by Italian colleagues was affected. What was the outcome?

In the international CROWN study, lorlatinib compared to crizotinib led to a 72% reduction in the risk of disease progression or death and significant improvement in intracranial response to treatment in previously untreated patients with advanced ALK-positive non-small cell lung carcinoma (NSCLC). The results were published in November 2020 in the prestigious New England Journal of Medicine.

Fibrotic interstitial lung disease (fILD) is a challenging condition to manage with limited therapeutic options and a poor prognosis. The currently published review analyzes the criteria for its progression defining the presence of progressive pulmonary fibrosis (PPF), describes their relative prevalence, and prognostic significance.

What are the latest findings on the etiopathogenesis of multiple sclerosis? Are they reflected in the current classification? And what will future therapy look like?

Choroideremia (CHM) is a rare genetically conditioned retinal disease caused by mutations in the CHM gene, leading to a lack of production of the protein REP1 (ras-associated binding escort protein 1). Currently, there is no approved treatment for CHM. The aim of the study (Tübingen Choroideremia Gene Therapy) published last year in the journal JAMA Ophthalmology was to evaluate the safety and efficacy of subretinally applied gene therapy using an adeno-associated virus vector (AAV2), designed to deliver a functional copy of the CHM gene to patients with choroideremia.

MUDr. Věra Geierová from the Institute of Hematology and Blood Transfusion in Prague prepared a summary of what was discussed about emicizumab during the ASH 2020 congress for this year's Prague Hematology Days. In this context, she highlighted the comprehensive analysis of phase 3 HAVEN 1–4 studies, which assessed the safety and efficacy of emicizumab in individuals with hemophilia A with or without FVIII inhibitors.

Thanks to the expansion of modern therapies for chronic lymphocytic leukemia, many patients now have regimens based on venetoclax. Do you want to help them better understand the practical aspects and principles of this therapy? For this purpose, the Czech Group for Chronic Lymphocytic Leukemia (ČSCLL) in collaboration with PharmDr. Petra Rozsívalová from the Department of Clinical Pharmacy of the Faculty of Medicine, Charles University, and the University Hospital Hradec Králové has compiled a new brochure. It clearly and simply informs how this treatment works, the available dosages, how to use it correctly, and the most common side effects. Of course, it includes many practical tips, such as what to do if a patient forgets to take a dose, which foods interact with the treatment, and whether it affects the efficacy of vaccinations.

Malnutrition represents a potentially serious complication for cancer patients. If it is not possible to meet the nutritional demands of the body through the enteral route, parenteral nutrition must be initiated. A doctor will recommend it in situations where the patient is at risk from the consequences of malnutrition. Up to 45% of these patients struggle with at least a 10% loss of their body weight.

Ursodeoxycholic acid (UDCA) is the cornerstone treatment for PBC according to the guidelines of the European Association for the Study of the Liver (EASL). However, many patients (25–50%) do not achieve an adequate response to it, and some patients develop intolerance leading to the necessity of discontinuation (in the phase III POISE study, this concerned 7% of participants). Then, obeticholic acid (OCA) is indicated, which is recommended as the only registered second-line treatment option for PBC by current professional guidelines both European (EASL 2017) and Czech (2018). The latest data on OCA from clinical studies as well as real-world practice was also presented at this year's XLVIII May Hepatology Days.

Overall survival of patients with advanced-stage follicular lymphoma (FL) who experience early disease progression after chemotherapy remains low. Currently used clinical prognostic models do not provide optimal sensitivity and specificity for identifying this patient subgroup. The presented study by an international team of authors introduced a new assessment index that achieves better outcomes.

Several studies and meta-analyses in the past have pointed to a possible positive effect of low-molecular-weight heparins (LMWH) in the treatment of cancer. The RASTEN study therefore focused on the potential effect of enoxaparin in patients with small-cell lung cancer (SCLC).