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.

Life-Threatening Esophageal Variceal Hemorrhage in a 7-Year-Old Boy with Massive Portal Vein Enlargement Due to Congenital Arterioportal Fistula.

BACKGROUND Arterioportal fistulas (APFs) are abnormal connections between the arterial and portal venous systems, leading to portal hypertension (PH) and symptoms such as gastrointestinal bleeding, splenomegaly, and hepatic pain. Symptoms typically appear by the age of 2 years in about 75% of cases. CASE REPORT A 7-year-old boy with an asymptomatic APF developed life-threatening complications following a Clostridium difficile infection.

The complex anatomy of the bronchial arteries: a meta-analysis with potential implications for thoracic surgery and hemoptysis treatment.

The present meta-analysis aimed to provide the most detailed and comprehensive anatomical description of bronchial arteries (BAs) using data available in the literature. Adequate knowledge of the normal anatomy and morphological variations of BAs can be clinically significant; for example, this approach can prevent potential risks while undertaking bronchial artery embolization (BAE) procedures and, ultimately, lead to better patient outcomes. Major medical databases such as PubMed, Scopus, Embase, Web of Science, Google Scholar, and the Cochrane Library were searched.

Altered carnitine transporter genes (, , ) expression pattern among lung cancer patients.

Background: Despite the decrease of morbidity rate of non-small cell lung cancer (NSCLC) in recent years, it is still a cancer with poor prognosis. Lung cancers (LCs) are usually diagnosed at a late stage of the disease due to non-specific clinical symptoms. Proper regulation of carnitine levels is important in the context of development and increased risk of cancer cells proliferation.

Implementation of a tailored multifaceted antibiotic stewardship intervention to improve antibiotic prescribing for urinary tract infections in frail older adults (ImpresU) in four European countries: a process evaluation alongside a pragmatic cluster randomized controlled trial.

Background: We previously performed a pragmatic cluster randomized controlled trial (RCT) in general practices and older adult care organizations in Poland, the Netherlands, Norway, and Sweden. We found that a multifaceted antibiotic stewardship intervention (ASI) substantially reduced antibiotic use for suspected urinary tract infections (UTIs) in frail older adults compared with usual care. We aimed to evaluate the implementation process of the ASI to provide recommendations for clinical practice.

Determination of glucose cut-off points for optimal performance of glucagon stimulation test.

Introduction: The glucagon stimulation test (GST) is widely used to assess growth hormone (GH) and cortisol secretion, nevertheless the precise mechanisms underpinning these hormonal responses remain unclear. We have endeavoured to explore the relationship between glucose and insulin fluctuations during GST and their impact on GH and cortisol secretion.

Subjects And Methods: We retrospectively studied 139 subjects (mean age 35.

Chronic Cough as the First Clinical Sign of Fabry Disease: A Case Report.

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, which lead to a deficiency of the alpha-galactosidase A enzyme. Pulmonary involvement is one of the possible manifestations of FD, but it is often overlooked and is rarely the only clinical presentation. Chronic cough is an uncommon and nonspecific symptom of pulmonary involvement in FD.

Diagnosing probable urinary tract infections in nursing home residents without indwelling catheters: a narrative review.

Background: Overdiagnosis of urinary tract infections (UTIs) is one of the most common reasons for the unnecessary use of antibiotics in nursing homes, increasing the risk of missing serious conditions. Various decision tools and algorithms aim to aid in UTI diagnosis and the initiation of antibiotic therapy for residents. However, due to the lack of a clear reference standard, these tools vary widely and can be complex, with some requiring urine testing.

Changes in Ultrasound Parameters of the Median Nerve at Different Positions of the Radiocarpal Joint in Patients with Carpal Tunnel Syndrome.

Ultrasound imaging (US) is being increasingly used to aid in the diagnosis of entrapment neuropathies. This study aims to evaluate the shear modulus and cross-sectional area (CSA) of the median nerve in patients with carpal tunnel syndrome (CTS). A total of 35 patients with CTS participated in the study.

Metformin-Associated Gastrointestinal Adverse Events Are Reduced by Probiotics: A Meta-Analysis.

Metformin, one of the most frequently used oral glucose-lowering drugs (GLDs), is associated with the occurrence of gastrointestinal (GI) adverse events in approximately 20% of users. These unwanted actions result in non-compliance or even discontinuation of metformin therapy. The aim of the presented meta-analysis was to determine whether adding a drug from the group of sulfonylureas, glitazones, DPP-IV inhibitors, or probiotics to metformin monotherapy may affect the risk of GI side effects.

The Significance of Genetically Determined Methylation and Folate Metabolism Disorders in the Pathogenesis of Coronary Artery Disease: A Target for New Therapies?

Methylation is a biochemical process involving the addition of a methyl group (-CH) to various chemical compounds. It plays a crucial role in maintaining the homeostasis of the endothelium, which lines the interior surface of blood vessels, and has been linked, among other conditions, to coronary artery disease (CAD). Despite significant progress in CAD diagnosis and treatment, intensive research continues into genotypic and phenotypic CAD biomarkers.

The Evolution of Custom Subperiosteal Implants for Treatment of Partial or Complete Edentulism in Patients with Severe Alveolar Ridge Atrophy.

Dental implants have always played an important role in dentistry and have been used to replace missing teeth since around 600 AD. They can be classified into three groups: endosteal, subperiosteal, and transosteal. Over time, different materials have been used to manufacture dental implants and these, in turn, can be divided into three groups: metals, ceramics, and polymers.

Identifying iliotibial band graft length and incision site may minimise the potential risk of harming adjacent structures: A novel approach for surgeon guidance.

Purpose: The Iliotibial band (ITB) is a fibrous thickening of the fascia lata originating at the iliac crest and inserting at Gerdy's tubercle on the lateral tibia. The ITB significantly contributes to lateral knee stabilisation. Due to its size, tensile strength and easy access, it is widely used in orthopaedic surgery as an autograft during reconstruction procedures.

The Clinical Outcome of Cardiac Rehabilitation in Coronary Artery Disease Patients with Regard to the Presence of Left Ventricular Systolic Dysfunction.

: Despite the use of advanced treatment techniques, coronary artery disease (CAD) still remains the main cause of left ventricular (LV) dysfunction and heart failure. Participation in cardiac rehabilitation (CR) programs can lead to a number of beneficial effects, but some patients do not demonstrate the expected improvement. The aim of this study is to evaluate the impact of CR on changes in exercise capacity with regard to the presence of LV dysfunction.

Evaluation the results of electromagnetic compatibility of a prototype device for ear stimulation in patients with tinnitus.

<b><br>Aim:</b> The aim of the study was to evaluate the results of electromagnetic compatibility of a prototype device for ear stimulation in patients with tinnitus.</br> <b><br>Material and methods:</b> The electromagnetic compatibility tests of the prototype device for electro- and magnetostimulation of the hearing organ were carried out at the Center for Attestation and Certification Tests OBAC Sp. z o.

Electrical safety assessment of a prototype device for electromagnetic stimulation of the ear in patients with tinnitus.

<b><br>Aim:</b> The aim of the study was to evaluate the results of electrical safety results of a prototype electromagnetic ear stimulation device in patients with tinnitus.</br> <b><br>Material and methods:</b> The electrical safety tests of the prototype device for electro- and magnetostimulation of the hearing organ were carried out at the Center for Attestation and Certification Tests in Gliwice. The tests concerned selected parameters including the PN-EN standard.

What Do We Know So Far About Ventricular Arrhythmias and Sudden Cardiac Death Prediction in the Mitral Valve Prolapse Population? Could Biomarkers Help Us Predict Their Occurrence?

Purpose Of The Review: To summarize currently available data on the topic of mitral valve prolapse (MVP) and its correlation to the occurrence of atrial and ventricular arrhythmias. To assess the prognostic value of several diagnostic methods such as transthoracic echocardiography, transesophageal echocardiography, cardiac magnetic resonance, cardiac computed tomography, electrocardiography, and electrophysiology concerning arrhythmic episodes. To explore intra and extracellular biochemistry of the cardiovascular system and its biomarkers as diagnostic tools to predict rhythm disturbances in the MVP population.

Trends in Mortality Due to Malignant Neoplasms of Female Genital Organs in Poland in the Period 2000-2021-A Population-Based Study.

The aim of this study is to assess mortality trends due to malignant neoplasms of female genital organs (MNFGOs) in Poland between 2000 and 2021. For the purpose of the study, the authors used data on all deaths of Polish female inhabitants due to MNFGO between 2000 and 2021, obtained from the Statistics Poland database. The standardised death rates (SDR), potential years of life lost (PYLL), annual percentage change (APC) and average annual percentage change (AAPC) were calculated.

Colorectal Cancer: Is it Still a Disease of the Elderly?

<b><br>Introduction:</b> Colorectal cancer is becoming an increasingly significant health issue, being one of the more commonly diagnosed malignancies. Colorectal tumors account for 10% of all malignant cancers in women and 12% in men. Incidence is higher in the male population, especially among younger individuals.

ADAMTS Gene-Derived circRNA Molecules in Non-Small-Cell Lung Cancer: Expression Profiling, Clinical Correlations and Survival Analysis.

The present study examines the relationship between circular RNA (circRNA) derived from three genes of the family a disintegrin and metalloproteinase with thrombospondin motifs (ADAMTSs): , and and the host gene expression in non-small-cell lung cancer (NSCLC) with regard to various clinical factors. Notably, an association was identified between expression and specific circRNA molecules, as well as certain expression patterns of and its derived circRNA that were specific to histopathological subtypes. The survival analysis demonstrated that a lower expression in squamous cell carcinoma was associated with extended survival.