Inhibition of coagulation factor XI/XIa - the next step in increasing the safety of anticoagulant therapy?

Jan Bultas

Vnitr Lek 2024, 70(4):213-218  

Modern medicine places great emphasis not only on the efficacy but especially on the safety of the treatment. A common deficiency of anticoagulants inhibitingg the common pathway of the coagulation cascade (thrombin inhibitors, factor Xa inhibitors or antivitamins K) is an increased risk of clinically significant bleeding. A new strategy is being developed to inhibit the intrinsic pathway of the coagulation cascade, specifically to inhibit the synthesis or block the function of factor XI/XIa. This route is promising, as the most common indications of anticoagulants include activation of haemostasis by contact (induced e.g. by polyphosphates on the...

Cystic fibrosis related diabetes - current situation and perspective

Kateřina Štechová, Libor Fila

Vnitr Lek 2024, 70(4):219-223  

Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by mutations in the CFTR gene (the Cystic Fibrosis Transmembrane Conductance Regulator). In most patients, the disease manifests itself in the form of chronic sinobronchial disease, pancreatic insufficiency, and increased concentration of chlorides in sweat. With increasing age, other complications appear, one of which is a specific form of diabetes CFRD (Cystic Fibrosis Related Diabetes), which affects up to 50 % of adult CF patients. The introduction of treatment with so-called CFTR modulators has led to a significant extension of the lifespan of patients with CF, and...

Systemic mastocytosis - a common diagnosis for allergists and hematologists

Marie Žemličková, Tomáš Kozák

Vnitr Lek 2024, 70(4):224-232  

Systemic mastocytosis (SM) is a disease characterized by the proliferation of clonal mast cells. SM biologically include a wide spectrum, ranging from relatively benign indolent forms to mast cell leukemia. The clinical presentation varies from nearly asymptomatic forms, through various degrees of mediator syndrome, to a neoplastic syndrome associated with hepatosplenomegaly, lymphadenopathy, and constitutional symptoms. Diagnosis relies on morphological and histological evaluation of the bone marrow. Patients are classified based on diagnostic findings and symptomatology according to the WHO and ICC classifications, which determine the type of disease...

Deficiency of adenosine deaminase type 2 (DADA2): clinical picture, diagnosis and treatment

Barbora Balažiová, Gabriela Hrčková, Veronika Dobšinská, Tomáš Dallos

Vnitr Lek 2024, 70(4):233-240  

Deficiency of adenosine deaminase type 2 (DADA2) is a genetically determined multisystem autoinflammatory disease first described in 2014. It results from pathogenic variants in the ADA2 gene that lead to the reduction or complete loss of ADA2 enzyme activity. It presents with a highly variable phenotype as systemic or cerebral vasculitis, immunodeficiency and/or bone marrow failure, usually with early onset. More than 370 published cases of DADA2 can be found in international literature, however, statistical calculations estimate the prevalence to more than 35,000 individuals worldwide. The diversity of the phenotypic spectrum delays diagnosis and...

Sarcopenia in chronic dialysis patients

Zdeněk Lys, Tomáš Balner, Jan Václavík

Vnitr Lek 2024, 70(4):E16-E20  

Sarcopenia is a generalized, progressive disease of muscle tissue conditioned not only by age but also by other factors such as physical inactivity, nutritional impairment, or several chronic diseases. The prevalence of sarcopenia in patients with advanced chronic kidney disease is high, and this number is further increased in patients on dialysis. The prognosis for this group of patients is severe and sarcopenia itself is associated with an increased risk of falls, fractures, disability, and further worsening mortality. Chronic kidney disease affects 10-12% of the population and the prevalence of renal failure increases with increasing age. In the...

Amiodarone-induced thyropathies

Marianna Bystrianska, Adrian Bystriansky, Iveta Wildová

Vnitr Lek 2024, 70(4):E21-E27  

Amiodaron is one of the most effective and widely used antiarrhythmics drug. It has an irreplaceable position in the treatment of ventricular tachycardia, the high content of iodine in its molecule predisposes it to the possible development of thyropathies. Amiodarone induced thyropathies, represent one of the serious complications of amiodarone treatment. The aim of the article is to provide a comprehensive review of the diagnosis, management and treatment of patients with amiodarone - induced thyropathies. The management of patient with amiodarone - induced thyrotoxicosis requires an interdisciplinary approach and a properly chosen treatment strategy....

Alpha-1 antitrypsin deficiency

Mikoláš Holinka, Jan Šperl, Soňa Fraňková

Vnitr Lek 2024, 70(4):E28-E33  

Alpha-1-antitrypsin (AAT) deficiency (AATD) is one of the most common genetic disorders. Most people carry two copies of the wild-type M allele of the SERPINA1 gene, which encodes AAT, and have normal blood concentrations of AAT. Ninety-five percent of cases of severe AAT deficiency result from the homozygous Glu342Lys substitution (Z allele), which is present in 1 in 25 persons of European descent. Mild AAT deficiency is usually due to the Glu264Val mutation (S allele). AAT is synthesized in the liver and secreted into the blood. Its primary role is to protect lung tissue from neutrophil elastase attack. Point mutations can lead to the retention...

Posúdenie nutričného stavu u hospitalizovaných geriatrických pacientov

Jaroslav Madleňák, Ivana Bóriková

Vnitr Lek 2024, 70(4):E3-E7  

Cieľ: Zistiť stav výživy u hospitalizovaných geriatrických pacientov na internom oddelení; zistiť, či existujú štatisticky významné korelácie medzi vybranými socio-demografickými údajmi, zdravotnými charakteristikami a meracím nástrojom. Súbor a metódy. Geriatrickí pacienti vo veku ≥ 65 rokov hospitalizovaní na internom oddelení. Dizajn štúdie kvantitatívny, deskriptívny, korelačný. Výskumný protokol obsahoval sledované premenné: demografické údaje, zdravotné charakteristiky, laboratórne parametre a merací nástroj na posúdenie stavu výživy MNA®. Empirické údaje boli spracované metódami deskriptívnej a induktívnej štatistiky. Výsledky: V...

Thyrotoxic crisis induced by amiodarone

Marianna Bystrianska, Adrian Bystriansky, Iveta Wildová, Lýdia Opravilová

Vnitr Lek 2024, 70(4):E8-E15  

Background: Thyrotoxic crisis is a medical emergency status needed rapid diagnostic and urgent treatment, presented by decompensation and multiorgan dysfunction. Amiodarone induced thyrotoxicosis (AIT) is one of the severe complications caused by amiodarone therapy. Aim: Analysis of patients suffered from thyrotoxic crisis induced by Amiodarone therapy, with focus on clinical picture, laboratory findings and therapeutic options. Methods and Results: A total of 39 consecutive patients were dispensed to the Endocrine outpatient clinic of the University Hospital Banská Bystrica, with AIT during the period of 2005-2021 year we performed retrospective analysis...

Multiple myeloma as a cause of primary graft dysfunction after kidney transplantation

Katarína Jakubov, Martin Kment, Ondřej Viklický

Vnitr Lek 2024, 70(4):241-244  

Low incidence of multiple myeloma (MM) in the general population is one of the reasons for absence of a screening program. Kidney dysfunction is one of the most common types of end-organ damage in MM patients. Some transplant centers, therefore, established a screening to detect monoclonal immunoglobulin, mostly employing serum protein electrophoresis (SPEP) with or without immunofixation of serum and urine. If only monoclonal free light chain is produced, however, the sensitivity of SPEP and immunofixation is low. Here, we describe a case report of patient with newly diagnosed MM only after kidney transplantation. This case report emphasis the need...

Deficiency of adenosine deaminase type 2 (DADA2) - first experiences in Slovakia: case reports

Barbora Balažiová, Peter Čižnár, Miroslava Pozdechová, Dušana Genšor, Viktória Halušková, Ivana Hulínková, Peter Švec, Miloš Jeseňák, Hana Grombiříková, Tomáš Freiberger, Eva Froňková, Giorgia Bucciol, Isabelle Meyts, Tomáš Dallos

Vnitr Lek 2024, 70(4):246-254  

Deficiency of adenosine deaminase type 2 (DADA2) is an autoinflammatory disease identified in 2014 as a monogenic cause of systemic vasculitis resembling polyarteritis nodosa, with fever, livedo racemosa, peripheral necrosis, and early-onset stroke. Over the past 10 years, the knowledge of the phenotypic spectrum of DADA2 has expanded considerably. With 378 cases published so far in the world literature, DADA2 is considered a rare disease, but known cases represent only a fraction of the estimated 35,000 affected individuals worldwide (estimated prevalence ~ 1:222 000). We present the first 3 Slovak patients with genetically and biochemically confirmed...

Assessment of the fluid status and fluid therapy optimization in the emergency department: Is inferior vena cava a reliable marker?

Jiří Müller, Martin Matějovič

Vnitr Lek 2024, 70(4):255-259  

Infusion therapy, in terms of fluid resuscitation, is without a doubt one of the most common therapeutic intervention in the management of an acutely ill patient. Despite the growing body of evidence showing potentially harmful effects of non-indicated fluid administration, this "fluid-reflex" remains a common practice in the Emergency department. One of the reasons for this is that fluid status assessment, based just on the clinical findings, is generally difficult if the patient does not have extreme fluid balance disturbances. Inferior Vena Cava ultrasound provides a relatively quick and simple answer to the basic clinical question: "Does my patient...

Profesorka Hana Rosolová slaví významné životní jubileum

prof. MUDr. Jan Filipovský, CSc.

Vnitr Lek 2024, 70(4):E34-E35  

News in geriatric medicine - what's new in dementia?

Katarína Bielaková, Ondřej Ludka

Vnitr Lek 2024, 70(4):260-263  

Population aging is changing the world dramatically and fundamentally. Contemporary geriatrics has an interventional and preventive nature and strives to preserve physical and mental health for as long as possible, prevent loss of self-sufficiency and improve the prognosis of seniors with a focus on quality of life. Dementia is a serious problem that geriatrics deals with. The diagnosis of dementia not only affects the quality of life of individuals, but also represents a huge social and economic burden for the family, health systems and society. With the aging of the population, dementia has become an important problem in our health care and there...