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. Building on previous findings that identified the loss of IL-7 receptor expression as a possible cause of the immunodeficiency and increased sensitivity to radiation-induced damage, we have employed spectral cytometry and multiplex RNA-sequencing to assess the phenotype and function of T cells ex-vivo and to study changes induced by in-vitro UV irradiation and reaction of cells to the presence of IL-7. Our findings highlight the mature phenotype of T cells with proinflammatory Th1 skew and signs of exhaustion and lack of response to IL-7. UV light irradiation caused a severe increase in the apoptosis of T cells, however the expression of the genes related to immune response and regulation remained surprisingly similar to healthy cells. Due to the disease's rarity, more studies will be necessary for complete understanding of this unique immunodeficiency.

Effectiveness of treatment of arterial hypertension in Central Europe from 1972 to 2022.

BACKGROUND: Hypertension is a leading cause of cardiovascular disease. This review examines the literature on hypertension control in the Czech Republic from 1972 to 2022 addressing limited data on its effectiveness. METHODS: A literature review was conducted covering the period from 1972 to 2022, utilizing MEDLINE (PubMed), Web of Science, and Scopus databases. Articles were selected based on title and abstract evaluations, with full-text reviews performed as needed. Thirteen studies involving 44,990 participants were included in this review. RESULTS: Control rates increased from 2.8% (men) and 5.2% (women) in 1985 to 32.3% (men) and 37.4% (women) from 2015 to 2018. Women showed better blood pressure control. Specialised centres achieved higher success (48%) than general practitioners (18.4%). Diabetic patients had a lower percentage (29.1%) of patients meeting their target values (<130/80 mmHg) compared to non-diabetic patients, who had a higher percentage (60.6%) meeting their target values (<140/90 mmHg). CONCLUSION: Hypertension treatment success rate in the Czech Republic improved significantly over the last 50 years and is currently comparable to that of other European countries with similar healthcare resources. However, it still remains suboptimal and lags behind the countries with the most successful treatment outcomes (Tab. 3, Fig. 1, Ref. 37). Text in PDF www.elis.sk Keywords: hypertension, treatment, effectiveness, Czech Republic, blood pressure.

Optimal vascular access to hemodialysis, or what modern medicine offers us.

Hemodialysis is a life-saving method for patients with acute and chronic kidney failure. This treatment requires sufficiently large and safe vascular access. Ensuring optimal vascular access is therefore a prerequisite and an integral part of the care of these patients. In addition to commonly known vascular approaches such as non-tunnelized or tunneled hemodialysis catheters and AV fistulas, less well-known methods are also available, such as a translumbar or directly surgically inserted hemodialysis catheter into the right atrium. However, these alternative approaches are the only, life-saving alternative for some patients. The ambition of this review article is to offer a comprehensive view of the available options for vascular access, the algorithm for its selection and solutions to the most common complications in clinical practice.

The first human case of babesiosis mimicking Reiter's syndrome.

Babesiosis is a tick-borne disease that may exhibit a broad range of clinical manifestations. According to the Food and Drug Administration (FDA), Babesia species belong to the most common transfusion-transmitted pathogens (FDA, May 2019), but the awareness of the disease caused by these parasitic protists is still low. In immunocompromised patients, the clinical course of babesiosis may be of extreme severity and may require hospital admission. We demonstrate a case of a young male who experienced severe polytrauma requiring repetitive blood transfusions. Six months later, the patient developed a classic triad of arthritis, conjunctivitis and non-specific urethritis. These symptoms largely mimicked Reiter's syndrome. The patient was later extensively examined by an immunologist, rheumatologist, urologist, and ophthalmologist with no additional medical findings. In the search for the cause of his symptoms, a wide laboratory testing for multiple human pathogens was performed and revealed a babesiosis infection. This was the first case of human babesiosis mimicking Reiter's syndrome. Following proper antimicrobial therapy, the patient fully recovered in four weeks. We aim to highlight that a search for Babesia species should be considered in patients with non-specific symptomatology and a history of blood transfusion or a possible tick exposure in pertinent endemic areas.

[Granulomatosis with polyangiitis manifested as diabetes insipidus]. / Granulomatóza s polyangiitidou manifestující se jako diabetes insipidus.

UNLABELLED: The case report shows a surprising presentation of pulmonary granulomatosis with polyangiitis (GPA) through symptoms of diabetes insipidus (DI) with granulomatous infiltration of the pituitary gland. The pituitary hormonal dysfunction as a result of granulomatosis of the pituitary gland is rare. Several studies have demonstrated that the incidence of the pituitary dysfunction reaches approx. 1 % of the patients with GPA. However it is mostly presented in patients with the disease already diagnosed. The patient described by us had no clinical expressions of GPA in the respiratory tract. He presented with polyuria and polydipsia. It was not until a more detailed examination of these symptoms was performed that a focal lung disease was detected and diagnosed as GPA. KEY WORDS: diabetes insipidus - granulomatosis with polyangiitis - granulomatous infiltration of the pituitary gland - pituitary hormonal dysfunction.

[Prevalence of microalbuminuria in patients with diabetes mellitus in the Czech Republic: Project IDN-Micro]. / Prevalence mikroalbuminurie u pacientu s diabetes mellitus v Ceské republice: Projekt IDN-Micro.

INTRODUCTION: Prevalence of a positive testing for microalbuminuria (MA) in patients with diabetes mellitus in the Czech Republic is not described in the available literature. The data is important with regard to monitoring effectiveness of the comprehensive therapy for diabetes mellitus, from the prognostic and pharmacoeconomic perspective.The aim of the study was to assess the prevalence of presence of microalbuminuria or proteinuria (PU) in randomly chosen patients with diabetes mellitus aged up to 65 years in a cross-cutting study. The secondary aim was to assess the distribution of eGFR (estimated glomerular filtration) in the same population. METHODOLOGY: 2 024 patients with diabetes aged up to 65 years were examined within the project. The median of diabetes duration was 6.0 years, the BMI median was 30.7 kg/m2, the creatinine median 74.9 µmol/l, the median of HbA1c 5.45 %, the blood pressure median 132/80 mm Hg. 1 888 patients had type 2 diabetes (DM2T). RESULTS: 19.96 % of the examined patients tested positive for MA (24.24 % of them with type 1 diabetes - DM1T, 19.16 % DM2T). 11.36 % tested positive for PU (17.78 % DM1T, 10.21 % DM2T). Glomerular filtration was established through calculation (MDRD), with a normal value identified in 44.7 %, a mild decrease (eGFR 1.0-1.49 ml/s) in 46.7 %, medium (eGFR 0,5-0,99 ml/s) in 7.7 %, and a severe decrease (eGFR < 0.5 ml/s) identified in 0.7 %, hemodialysis in 0.2 %. The median of diabetes duration in MA-negative patients was 5 years, in MA-positive patients 7 years and in patients with proteinuria 11 years. Regarding patients with eGFR between 0.5-0.99 ml/s/1.73 m2, 63.23 % of them tested negative for MA and 71.62 % for PU, regarding those with eGFR in the range of 0.25-0.49 ml/s/1,73 m2, 15.38 % tested negative for MA and 7.69 % were PU-negative. CONCLUSION: The IDN-Micro project shows high prevalence of positive MA and PU findings in individuals with diabetes mellitus younger than 65. For a significant proportion of individuals, the most likely cause of the decrease in eGFR is other than hyperglycemia. It is apparent that examination of serum concentrations of creatinine and evaluation of eGFR is also necessary for relatively younger patients with diabetes.Key words: diabetes mellitus - eGFR - microalbuminuria.

[Present possibilities of monitoring the effectiveness of hyponatremia therapy]. / Soucasné moznosti sledování efektivnosti terapie hyponatremie.

Changes to the overall volume of body water and acid base equilibrium can be reflected in the values of differences and ratios relating to serum concentrations of natrium and chlorides. Both these quantities can be used for patients with hyponatremia in the hyponatremia differential diagnosis. This paper presents a case study which is an example of the clinical use of differences in and ratios of serum concentrations of natrium and chlorides when monitoring effectiveness of the therapy.Key words: acid base equilibrium - depletion hyponatremia - differential diagnosis of hyponatremia - dilution hyponatremia.