Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis.

Purpose: Patients with (X-linked) agammaglobulinemia (XLA) suffer from severe, recurrent infections potentially leading to life-threatening complications such as sepsis, meningoencephalitis and chronic lung disease. Early diagnosis and timely treatment can prevent infections and secondary complications, emphasizing a role for early detection of XLA via newborn screening (NBS). Our international multicenter survey study aimed to evaluate self-reported outcomes and parental perspectives in XLA patients to determine whether an early diagnosis is associated with better quality of life (QoL).

Pearson syndrome with atypical presentation of short stature and atypical limb proportions - First reported case in Slovakia.

In this case report, we describe an individual with Pearson syndrome, representing the first reported case in Slovakia. The patient was 1.5-year-old boy with pancytopenia including macrocytic anemia, neutropenia and thrombocytopenia, pancreatic insufficiency, hepatopathy, psychomotor development delay, short stature and failure to thrive.

A high-throughput LC-MS/MS method for simultaneous analysis of albendazole, albendazole sulfoxide and albendazole sulfone in human plasma.

Albendazole is a benzimidazole derivative with a broad spectrum of antihelmintic activity. Its primary metabolite, albendazole sulfoxide, is responsible for the treatment's efficacy. On the other hand, it contributes to side effects and toxicity.

Selected and Gene Polymorphisms in Patients with Migraine and Sticky Platelet Syndrome.

One of the most common clinical manifestations of inherited platelet hyperaggregability also known as sticky platelet syndrome (SPS) is migraine. The aim of this study was to assess the role of single nucleotide polymorphisms (SNPs) of platelet endothelial aggregation receptor 1 () and murine retrovirus integration site 1 () genes in pathogenesis of SPS associated with migraine. Hundred patients with SPS and migraine as well as two hundred and seven patients with SPS and without migraine as a control group were enrolled.

Role of Vitamin D Supplementation in Chronic Liver Disease: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Context: Vitamin D deficiency is highly prevalent in chronic liver disease. Although international societies recommend vitamin D supplementation in cases of proven deficiency, the impact of vitamin D on chronic liver disease remains uncertain.

Objective: Our aim was to evaluate the effects of vitamin D supplementation in patients with chronic liver disease by conducting a systematic review and meta-analysis of randomized controlled trials (RCTs).

Disparities in Seasonal Influenza Vaccination in Europe.

Background: Seasonal influenza remains a major public health challenge in Europe, associated with high morbidity, mortality, and socioeconomic burden. Despite the proven efficacy and cost-effectiveness of vaccination, coverage rates vary substantially across European countries and population groups, often falling short of the World Health Organization's target of 75% for older adults.

Objective: This narrative review aims to identify and explore disparities in seasonal influenza vaccination coverage across European countries and among different population subgroups.

Navigating the Maze of Functional Dyspepsia: Emergence of a New Entity, Postprandial Epigastric Pain Syndrome.

Background & Aims: The Rome IV criteria subdivide functional dyspepsia (FD) into postprandial distress syndrome (PDS) with meal-related symptoms (early satiation and/or postprandial fullness) and epigastric pain syndrome (EPS) with meal-unrelated symptoms (epigastric pain and/or burning). We aimed to systematically assess the relationship of epigastric pain to meal ingestion in 4 independent FD databases.

Methods: In total, 1337 patients with FD were included.

Long-term safety and efficacy of once-daily berotralstat in patients with hereditary angioedema: APeX-S final results.

Background: Berotralstat is a once-daily oral medication for the prophylaxis of hereditary angioedema (HAE) attacks in patients aged 12 years and older.

Objective: To assess the long-term safety and efficacy of berotralstat in patients with HAE caused by C1 inhibitor deficiency.

Methods: APeX-S was a global, open-label phase 2 study (NCT03472040) assessing berotralstat 150 and 110 mg for up to 96 weeks in the United States and 240 weeks elsewhere.

Comparison of the Prevalence of Meal-Related Nausea in Different Functional Dyspepsia Subgroups.

Background: Nausea can coexist in functional dyspepsia (FD) but the literature is poor in reporting whether this symptom is mainly triggered by meal ingestion. Moreover, the prevalence of nausea in FD is understudied.

Methods: Adult patients with a disorder of gut-brain interaction (DGBI) recruited in secondary and tertiary care facilities completed the enhanced Asian Rome IV questionnaire with additional questions to address the relationship between nausea and food intake.

Combination of Allergen-Specific Immunotherapy With Biologics in Severe Asthma: Counterintuitive or Rational?

Although numbers vary, most patients with severe asthma have eosinophilic asthma. Many of them have the allergic asthma endotype, particularly those with concomitant allergic rhinitis (AR). Allergen immunotherapy (AIT) is the only disease-modifying therapy offering long-term effectiveness for allergic respiratory disorders, including asthma, but it is contraindicated in patients with uncontrolled disease.

Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.

Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome among all monogenic autoinflammatory diseases. It is characterised by recurrent, self-limited fever attacks of short duration, polyserositis symptoms, and elevated acute-phase reactants. FMF has the highest prevalence in the Eastern Mediterranean region.

Temporal Profiling of Cellular and Molecular Processes in Osteodifferentiation of Dental Pulp Stem Cells.

Based on the potential of DPSCs as the most promising candidates for bone tissue engineering, we comprehensively investigated the time-dependent cellular and molecular changes that occur during their osteodifferentiation. To analyze this area in-depth, we used both cellular and molecular approaches. Morphological changes were monitored using bright-field microscopy, while the production of mineral deposits was quantified spectrophotometrically.

A severe ABCC6 -induced generalized arterial calcification of infancy overshadowed by the EGFR -associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.

Neonatal inflammatory skin and bowel disease 2 is an epidermal growth factor receptor (EGFR)-associated autosomal recessive early-infantile disease with inflammatory skin, alopecia, progeroid features, electrolyte imbalance, recurrent infections, and premature death. Pseudoxanthoma elasticum (PXE) is another autosomal recessive skin disorder with some ocular and cardiovascular alterations, caused by variations in the ATP binding cassette subfamily c member 6 (ABCC6) gene. However, ABCC6-deficiency is, rarely, also presented as as an early/late-infantile autosomal recessive generalized arterial calcification of infancy.

Morphological characteristics of developmental anomalies of the thyroid gland: a prospective single-center cohort study.

Background: Thyroid diverticulum originates between the first and second pharyngeal pouches, and descends via the thyroglossal duct to the level of CV to TI vertebra. By the 6th week of gestation the thyroglossal duct starts to obliterate. Failure in its obliteration causes differentiation of the distal part into the pyramidal lobe (PL), while the cranial portion may alter into a fibromuscular remnant - levator glandulae thyreoideae (LGT).

Endothelial Markers in Type 2 Diabetic Patients with Acute Decompensated Heart Failure: A Pilot Study.

Background: Impaired endothelial function has been associated with vascular complications in type 2 diabetes (T2D), but its role in T2D-related heart failure (HF) remains indeterminate. The aim of this study was to assess selected markers of endothelial function in T2D patients with acute decompensated HF.

Methods: A pilot prospective study on patients with acute decompensated HF requiring in-hospital admission was carried out.

Comparison of next‑generation sequencing quality metrics and concordance in the detection of cancer‑specific molecular alterations between formalin‑fixed paraffin‑embedded and fresh‑frozen samples in comprehensive genomic profiling with the Illumina® TruSight Oncology 500 assay.

Next-generation sequencing (NGS) technology is routinely employed to detect clinically significant variants in the field of precision medicine. Formalin-fixed paraffin-embedded (FFPE) tissues remain a widely used source of genetic material for diagnostic purposes due to their long-term storage stability, which preserves the architecture of tumour tissues. However, the degradation of nucleic acids (NAs) that occurs during the fixation process can lead to unreliable results or hinder analysis.

Endoscopic ultrasound navigated application of botulinum toxin in severe esophageal motility disorder.

The use of botulinum toxin in the therapy of esophageal motility disorders is reserved for elderly and comorbid patients considered risky for endoscopic or surgical treatment. However, there is a lack of data on the treatment of motility disorders outside the Chicago classification.We present the case of a 56-year-old patient with dysphagia and non-cardial chest pain (Eckardt 8).

The SQ tree sublingual immunotherapy tablet is effective and well tolerated in children-A pivotal phase III trial.

Background: Allergic rhinitis and/or conjunctivitis (AR/C) induced by tree pollen is common and negatively impacts quality of life in children and adolescents. This phase III trial investigated the efficacy and safety of the SQ tree SLIT-tablet in a paediatric population (5-17 years) with moderate-to-severe AR/C induced by pollen from birch and trees in the birch homologous group.

Methods: Nine hundred and fifty-two subjects were randomized (1:1) to daily treatment with SQ tree SLIT-tablet or placebo for up to 52 weeks and had free access to AR/C symptom-relieving medications.

Atypical Manifestation of X-linked Agammaglobulinemia - the Importance of Genetic Testing.

X-linked agammaglobulinemia (XLA) was one of the first inborn errors of immunity to be described. It is caused by pathogenic variants in the gene for Bruton tyrosine kinase (BTK), which has important functions in B cell development and maturation. Recurrent bacterial infections in the first two years of life and hypogammaglobulinemia with absent B cells in male patients are the most common symptoms.

Demographic, epidemiological and clinical characteristics of Ukrainian war refugees with HIV infection in the Slovak Republic.

Background: The Slovak Republic, an Eastern European country, borders Ukraine, which has one of the highest rates of HIV/AIDS in Europe. This study aims to inform readers about the demographic characteristics of Ukrainian war refugees with HIV/AIDS seeking temporary protection status in Slovakia due to the Russian invasion of February 24, 2022. It focuses on their epidemiology, immunological profiles, co-infections, and treatment.

Pulsatile Left Ventricular Assistance in High-Risk Percutaneous Coronary Interventions: Short-Term Outcomes.

To document the real-world experience with the use of pneumatic pulsatile mechanical circulatory support (MCS) with the PulseCath iVAC2L during high-risk percutaneous coronary interventions (HR-PCIs). : The use of MCS in HR-PCIs may reduce the rate of major adverse cardiovascular events (MACEs) at 90 days. The PulseCath iVAC2L is a short-term pulsatile transaortic left ventricular (LV) assist device that has been in use since 2014.