Case report: Cochlear implantation for deafness caused by endolymphatic sac tumors in patients with von Hippel-Lindau syndrome.

Introduction: Endolymphatic sac tumors (ELSTs) are rare neuroectodermal neoplasms that originate in the endolymphatic sac and duct. They exhibit no specific age or gender predilection, although they are more prevalent in patients with von Hippel-Lindau syndrome.

Material And Methods: The manuscript preparation adhered to the CARE guidelines for standardizing clinical cases and the PRISMA guidelines for scientific reviews.

The Nuchal Cord Conundrum: Understanding and Addressing Umbilical Entanglement in the Third Trimester of Pregnancy.

Better understanding of and addressing umbilical entanglement in the third trimester of pregnancy is necessary to estimate its impact on fetal circulation. An analysis of single physiological pregnancies wrapped with one or two coils of the umbilical cord around the neck makes it possible to understand the severity of the problem and distinguish it from perinatal umbilical strangulation. In an echocardiographic study performed at 32.

Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease.

Background: The mucopolysaccharidoses (MPSs) are very rare lysosomal diseases. MPSs belong to inherited diseases; however, newborns are usually asymptomatic. A deficiency of one of the enzymes, which is responsible for glycosaminoglycan (GAG) catabolism, results in the accumulation of this material.

Haemolytic uremic syndrome as a cause of chronic kidney disease stage 5 in children is in retreat: results from the Polish Registry of Kidney Replacement Therapy in children (2000-2023).

Background: Haemolytic uremic syndrome (HUS) is a life-threatening disease with a historically poor prognosis in children receiving maintenance kidney replacement therapy (KRT). This study aimed to analyse the incidence and outcome of chronic kidney disease stage 5 (CKD5) due to Escherichia coli-HUS (STEC-HUS) and complement-mediated HUS (CM-HUS) in children, compared with controls with non-HUS CKD5 over the last 24 years.

Methods: The study included 1488 children undergoing KRT in Poland between 2000 and 2023.

The Absence of Thyroid-Stimulating Hormone Receptor Expression on Natural Killer T Cells: Implications for the Immune-Endocrine Interaction.

The expression of thyroid-stimulating hormone receptor (TSHR) has been documented on various immune cells, including B lymphocytes, T lymphocytes, Natural Killer (NK) cells, monocytes, and dendritic cells (DCs). Natural Killer T (NKT) cells serve as a crucial link between innate and adaptive immunity, playing significant roles in immunological interactions and autoimmune diseases. The aim of the present study was to evaluate the presence of TSHR on NKT cells.

Changing Epidemiology and Outcomes of Hemolytic Uremic Syndrome in Children: A Prospective National Cohort Study from the Polish Pediatric HUS Registry and the Polish Registry of Renal Replacement Therapy in Children.

: Hemolytic uremic syndrome (HUS) is a known cause of acute kidney injury in children, but there are few recent reports on its epidemiology and outcome. We aimed to investigate trends in the incidence and the long-term outcomes of both Shiga toxin-producing -HUS (STEC-HUS) and atypical HUS (aHUS) in Poland over the last 12 years (2012-2023), based on the Polish Pediatric HUS and Pediatric Renal Replacement Therapy (RRT) Registries. : A total of 436 patients (301 with STEC-HUS and 135 with aHUS) were included.

17β-Estradiol Stimulates Oxidative Stress Components and Thyroid Specific Genes in Porcine Thyroid Follicular Cells: Potential Differences Between Sexes.

17β-estradiol plays a crucial role in regulating cellular processes in both reproductive and non-reproductive tissues, including the thyroid gland. It modulates oxidative stress and contributes to sexual dimorphism in thyroid diseases, with ROS production, particularly HO, generated by NOX/DUOX enzymes. This study aimed to investigate the effects of 17β-estradiol (10 nM or 100 nM) on the expression of NOX/DUOX, thyroid-specific genes, and endoplasmic reticulum (ER) stress-related genes in male and female porcine thyroid follicular cells.

Comparative efficacy of contrast-enhanced ultrasound versus B-mode ultrasound in the diagnosis and monitoring of hepatic abscesses.

Purpose: This study aimed to evaluate the diagnostic value of contrast-enhanced ultrasound (CEUS) in diagnosing and monitoring hepatic abscesses (HA).

Material And Methods: This retrospective study included 29 patients (9 females, 20 males) with 64 HA. Computed tomography (CT) served as the diagnostic benchmark, compared with CEUS and B-mode ultrasound (B-mode).

Significance of additional pulmonary blood flow between second and third stage in Fontan pathway.

Background: The benefit of additional pulmonary blood flow (APBF) in Fontan pathway remains controversial. The aim of the study was to analyze the systemic arterial saturation, ventricular and atrioventricular (AV) valve function, development of pulmonary arteries and postoperative course after Fontan operation in children with preserved or eliminated APBF between stages 2 and 3 of the Fontan pathway.

Methods: A group of 180 consecutive children (median age: 2.

ERα status of invasive ductal breast carcinoma as a result of regulatory interactions between lysine deacetylases KAT6A and KAT6B.

Breast cancer (BC) is the leading cause of death among cancer patients worldwide. In 2020, almost 12% of all cancers were diagnosed with BC. Therefore, it is important to search for new potential markers of cancer progression that could be helpful in cancer diagnostics and successful anti-cancer therapies.

The Effect of Statin Therapy on Bone Metabolism Markers and Mineral Density: Aa GRADE-Assessed Systematic Review and Dose-Response Meta-Analysis of Randomized Controlled Trials.

Purpose: Statin therapy is widely used for the management of dyslipidemia and the prevention of cardiovascular diseases (CVDs). However, there is a growing concern about its potential effects on bone metabolism markers and mineral density. The aim of this systematic review and meta-analysis was to investigate the effect of statin therapy on these parameters.

Effect of Statin Treatment on Lipoprotein-Associated Phospholipase A2 Mass and Activity: A Systematic Review and Meta-analysis of Randomized Placebo-Controlled Trials.

Purpose: The goal of this meta-analysis was to establish whether statin treatment reduces Lp-PLA2 mass concentration and/or activity.

Methods: PubMed, Scopus, Web of Science, ClinicalTrials.gov, and Google Scholar databases were searched using MESH terms and keywords.

Family Occurrence of an m.3303C>T Point Mutation in the Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy.

This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the gene, which was also present in their oligosymptomatic mother and their mother's sister, an asymptomatic carrier.

Early Symptoms in Children with Inflammatory Bowel Disease: Implications for Subsequent Bone Mineral Deficiency.

Background: Inflammatory bowel disease (IBD) is associated with multiple factors that influence bone metabolism. This study aimed to compare the clinical manifestations and diagnostic parameters of patients with Crohn's disease (CD) and ulcerative colitis (UC) at the time of diagnosis, as well as to assess their relationship with subsequent bone disorders.

Methods: Blood tests (including calcium-phosphate metabolism) and fecal tests (including calprotectin) were performed in eighty children recently diagnosed with IBD.

Clinical reality and challenges with familial hypercholesterolemia patients' management. 2024 results from the Regional Center for Rare Diseases (RCRD) Registry in Poland.

Background: Despite advancements in early diagnosis and effective medications in last decade, most heterozygous familial hypercholesterolemia (heFH) patients still fail to achieve their low-density lipoprotein cholesterol (LDL-C) goals and remain at residual cardiovascular disease risk. We present recent data from the regional FH registry in Poland, highlighting the challenges and real-life clinical management of FH patients.

Methods: The registry is held at the Regional Centre for Rare Diseases, founded in 2016, at the 2nd largest, supraregional hospital in Poland, where >80 different rare diseases in patients from all over Poland are diagnosed and treated, including phenotypically or genetically diagnosed FH patients.

The Role of Frailty in the Treatment of Locally Advanced Rectal Cancer.

Owing to the gradual aging of today's population, an increase in the prevalence of frailty syndrome has been noticed. This complex state of health, characterized by decreased resilience and tolerance with concurrent increased vulnerability to stressors and adverse health-related factors, has drawn researchers' attention in recent years. Rectal cancer, which constitutes ~30% of all colorectal cancers, is a disease noticeably related to the elderly.