Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), which are characterised by insufficient activity of enzymes responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited diseases, transmitted mainly in an autosomal recessive fashion.

Asymptomatic Hyperuricemia: A Nephro-Rheumatological Perspective.

Hyperuricemia (HU) is a common disorder associated with gout, kidney injury, and high cardiovascular risk. However, whether high serum uric acid (sUA) is a causative factor or just comorbidity remains unclear. When asked if asymptomatic hyperuricemic patients need treatment, even artificial intelligence in the form of the GPT chat provides an ambivalent answer and refers us to a healthcare provider.

Nasal Microbiome in Granulomatosis with Polyangiitis Compared to Chronic Rhinosinusitis.

Rhinosinusitis in granulomatosis with polyangiitis (GPA) is categorised as a secondary, diffuse and inflammatory chronic rhinosinusitis (CRS). It is one of the conditions that impacts the nasal microbiota. This study aimed to compare the nasal microbiomes of patients with GPA, CRS and NSP.

Predicting Mortality for COVID-19 Patients Admitted to an Emergency Department Using Early Warning Scores in Poland.

COVID-19 disease is characterised by a wide range of symptoms that in most cases resemble flu or cold. Early detection of infections, monitoring of patients' conditions, and identification of patients with worsening symptoms became crucial during the peak of pandemic. The aim of this study was to assess and compare the performance of common early warning scores at the time of admission to an emergency department in predicting in-hospital mortality in patients with COVID-19.

Cardiac valvular involvement in granulomatosis with polyangiitis in long-term observation.

Introduction And Objectives: Granulomatosis with polyangiitis (GPA) is an antineutrophil cytoplasmic autoantibody (ANCA)-associated systemic vasculitis and is characterized by inflammation of blood vessels. The aim of the present study was to assess cardiac valvular changes in patients with GPA in a cohort of 105 patients followed for a mean of six years.

Methods: We followed 105 patients (mean age 50.

Characteristics of osteoporotic vertebral fractures in association with symptomatic status in postmenopausal women - a retrospective study of a single centre in Poland.

Introduction And Objective: Vertebral compression fractures (VCFs), which are a complication of osteoporosis, often cause diagnostic and therapeutic difficulties. The aim of this study was to find association between the characteristics of VCFs and the symptomatic status of patients.

Material And Methods: The study involved a total of 437 women with diagnosed postmenopausal osteoporosis (193 with at least one compression fracture and 244 without VCFs).

Current Applications and Selected Technical Details of Dual-Energy X-Ray Absorptiometry.

The application of dual-energy X-ray absorptiometry (DXA) examinations in the assessment of bone mineral density (BMD) in the lumbar spine, hip, and forearm is the basic diagnostic method for recognition of osteoporosis. The constant development of DXA technique is due to the aging of societies and the increasing importance of osteoporosis as a public health problem. In order to assess the degree of bone demineralization in patients with hyperparathyroidism, forearm DXA examination is recommended.

Predictors of cardiovascular events in patients with primary systemic vasculitis: A 5 years prospective observational study.

Introduction: Granulomatosis with polyangiitis (GPA) is one of antineutrophil cytoplasmic autoantibody (ANCA) - associated systemic vasculitis and is characterised by inflammation of blood vessels. Systemic vasculitis exhibits an enhanced cardiovascular morbidity and cardiovascular disease (CVD) has become a leading cause of death in this group of patients.

Objectives: The aim of the present study was to assess the prevalence of clinical manifestation of atherosclerosis and its relation with classic risk factors for atherosclerosis, echocardiographic parameters and laboratory findings in GPA patients.

Radiological markers of granulomatosis with polyangiitis with nasal involvement.

Introduction: Granulomatosis with polyangiitis (GPA) is an autoimmune disease leading to necrotizing lesions in the affected tissues. Computed tomography (CT) of paranasal sinuses reveals multiple lesions in patients with GPA, for example, sinus opacification, bone / cartilage destruction, and neoosteogenesis.

Objectives: We aimed to describe and compare CT lesions found in patients with GPA and those with chronic rhinosinusitis (CRS) and to propose a new radiological marker of GPA-nasal strands.

A cross-sectional comparison of selected anthropometric, laboratory, and densitometric parameters in postmenopausal osteoporotic women with and without vertebral compression fractures.

Introduction: Osteoporosis leads to an increased risk of vertebral compression fractures (VCFs). Most of them are spontaneous, which makes early diagnosis difficult. The aim of the study was to find parameters that distinguish osteoporotic women with and without vertebral compression fractures.

Convalescent plasma treatment is associated with lower mortality and better outcomes in high-risk COVID-19 patients - propensity-score matched case-control study.

Objective: This study aimed to investigate the efficacy and safety of convalescent plasma (CP) transfusion in a group of high-risk COVID-19 patients.

Methods: This prospective study included 204 patients from a single tertiary-care hospital, hospitalized with COVID-19, of whom 102 were treated with CP administration and standard care (PG) and 102 others who received standard care only (CG). The CG was selected from 336 hospitalized patients using the propensity-score matching (PSM) technique using age, MEWS score, and comorbidities.

Comparison of the Characteristics of Back Pain in Women with Postmenopausal Osteoporosis with and without Vertebral Compression Fracture: A Retrospective Study at a Single Osteoporosis Center in Poland.

BACKGROUND The incidence of unspecific back pain and osteoporotic vertebral compression fractures increases significantly with age. Considering the difficulties in the diagnosis of spontaneous osteoporotic vertebral fractures, this retrospective study aimed to compare the characteristics of back pain in women with postmenopausal osteoporosis with and without vertebral compression fractures. MATERIAL AND METHODS This study enrolled 334 women with postmenopausal osteoporosis; 150 had vertebral fractures, and 184 had no vertebral fractures.

Effects of Environmental Factors on Severity and Mortality of COVID-19.

Most respiratory viruses show pronounced seasonality, but for SARS-CoV-2, this still needs to be documented. We examined the disease progression of COVID-19 in 6,914 patients admitted to hospitals in Europe and China. In addition, we evaluated progress of disease symptoms in 37,187 individuals reporting symptoms into the COVID Symptom Study application.

High incidence of venous thromboembolism but not of coronary artery disease in granulomatosis with polyangiitis in first years after diagnosis.

Objectives: Granulomatosis with polyangiitis (GPA), previously known as Wegener's granulomatosis, is one of antineutrophil cytoplasmic autoantibody (ANCA) - associated vasculitis. In patients with GPA an increased incidence of venous thromboembolism (VTE), mainly during active disease, has been described. The aim of the present study was to assess the incidence of VTE and its relation with classic risk factors for atherosclerosis, presence of coronary artery disease (CAD), echocardiographic parameters and laboratory findings in GPA patients.

Clinical characteristics and short-term outcomes of patients with coronavirus disease 2019: a retrospective single-center experience of a designated hospital in Poland.

Introduction: Since the first reported case of coronavirus disease 2019 (COVID‑19) in Poland, the worldwide pandemic has spread throughout the country, leading to many hospital admissions. There has been an urgent need to determine clinical characteristics of Polish patients with laboratory‑confirmed severe acute respiratory syndrome coronavirus 2 (SARS‑CoV 2) infection in the clinical setting.

Objectives: The aim of this retrospective study was to outline characteristics and short‑ term outcomes of SARS‑CoV‑2-positive patients.

Elevated levels of d-dimer are associated with inflammation and disease activity rather than risk of venous thromboembolism in patients with granulomatosis with polyangiitis in long term observation.

Purpose: Granulomatosis with polyangiitis (GPA) is one of antineutrophil cytoplasmic autoantibody (ANCA) - associated vasculitis. The disease is characterized by necrotizing inflammation of small vessels causing tissue ischemia in a variety of organs. The aim of the present study was an evaluation of inflammation, coagulation and fibrinolysis biomarkers, and their possible associations with various clinical and laboratory parameters in GPA patients.

Neutrophil extracellular traps generation and degradation in patients with granulomatosis with polyangiitis and systemic lupus erythematosus.

Neutrophils are one of the first cells to arrive at the site of infection, where they apply several strategies to kill pathogens: degranulation, respiratory burst, phagocytosis, and release of neutrophil extracellular traps (NETs). Recent discoveries try to connect NETs formation with autoimmune diseases, like systemic lupus erythematosus (SLE) or granulomatosis with polyangiitis (GPA) and place them among one of the factors responsible for disease pathogenesis. The aim of the study was to assess the NETotic capabilities of neutrophils obtained from freshly diagnosed autoimmune patients versus healthy controls.

[A cough in a patient with cholangitis in the course of caroli's disease. Case report].

Cough may be a manifestation of pulmonary and extra-pulmonary diseases. However, rarely liver disease is suspected as a cause of acute cough. A case of a 34-year-old patient with diagnosed Caroli's disease has been described, in which cough with fever was the main manifestation of cholangitis in the course of complications of the underlying disease.

[Kounis syndrome - allergic myocardial infarction. a case report].

Kounis syndrome or allergic myocardial infarction is an acute coronary syndrome in the course of an allergic reaction. In allergic patients in response to a specific condition - nourishment, inhalation, environmental substances, drug or insect bite there is an allergic reaction involving many different cells and mediators that can cause coronary artery spasm or initiate the process of rupture and activation of atherosclerotic plaque resulting in acute coronary syndrome. The paper describes a case of a young man with allergy to pollen and confirmed sensitization to nuts, who developed a full-blown anaphylactic shock after eating the nut mix and experienced a rapidly passing acute coronary syndrome with troponin up to 4.

[Von Meyenburg complexes. case report].

Von Meyenburg complexes is one of the polycystic liver diseases, characterized by bile duct hamartoma. These cysts come from the biliary tract but the cysts do not communicate with them. Because of asymptomatic course of the lesions usually are diagnosed in the course of diagnostic for another reason.

SERPINA1 Gene Variants in Granulomatosis with Polyangiitis.

Alpha-1 antitrypsin (A1AT) deficiency is one of the most common genetic disorders in Caucasian population. There is a link between granulomatosis with polyangiitis (GPA) and most frequent variants of SERPINA1 gene encoding severe alpha-1 antitripsin deficiency. However, the potential effect of Pi*Z, Pi*S as well as other SERPINA1 variants on clinical course of vasculitis are not well understood.

Tuberculosis of the Urogenital Tract in Adults in a Tertiary Referral Center.

The genitourinary system is the main location of extrapulmonary tuberculosis. In Poland, it occupies the third place after tuberculosis of the pleura and lymph nodes. The aim of this study was to evaluate the prevalence and characteristics of tuberculosis in the urogenital tract in adult patients in a tertiary referral center in the years 2007-2015.

[Dyspnea in a patient after open reduction of fracture of the femur].

Acute dyspnoea in the postoperative period requires quick consideration of all possible causes and implementation of the proper treatment. During the differential diagnostic process, other than the most common cardio-pneumological and otolaryngological reasons, we should consider a whole array of rare causes such as neuromuscular illnesses, renal failure, and gastrointestinal diseases. This case is an example of sudden onset of dyspnoea presenting in a 67 year old woman with COPD.