Andreea Iațentiuc

Chronic obstructive pulmonary disease (COPD) is increasingly recognized as a systemic disease characterized by chronic inflammation and oxidative stress, with frequent cardiovascular involvement. This study investigated the associations between oxidative stress-related inflammatory markers and structural and electrical cardiac abnormalities in patients with COPD using a comprehensive multimodal cardiopulmonary assessment. A total of 100 clinically stable patients with COPD underwent inflammatory biomarker evaluation (IL-6, IL-8, IL-1β, and TNF-α), transthoracic echocardiography and 24 h Holter ECG monitoring. Advanced COPD was associated with significant differences in several structural cardiac parameters, including left atrial volume (p = 0.016), left atrial height (p = 0.027), and selected left ventricular parameters, while left ventricular ejection fraction remained preserved. Electrical abnormalities were significantly associated with systemic inflammatory markers. SII showed the highest discriminatory performance for sinus rhythm abnormalities (AUC = 0.736), whereas IL-6 showed the highest discriminatory performance for ventricular premature complexes (AUC = 0.732). Ventricular ectopic activity was also associated with significantly higher SII, SIRI, MLR, NLR, and PLR. Systemic inflammatory markers were associated with structural and electrical cardiac abnormalities in COPD, suggesting that they may provide complementary information regarding cardiovascular involvement. However, given the cross-sectional design and moderate discriminatory performance of these biomarkers, the findings should be considered exploratory and do not establish causal relationships. Prospective studies are needed to determine their potential role in cardiovascular risk stratification.

Hypophosphatasia (HPP) encompasses a group of inherited metabolic bone disorders characterized by defective skeletal mineralization and variable clinical severity in childhood. Substantial allelic heterogeneity contributes to a broad pediatric clinical spectrum, ranging from life-threatening perinatal disease to milder phenotypes characterized by chronic functional impairment. Historically, management relied primarily on supportive interventions aimed at sustaining survival, without modifying the underlying enzymatic defect. The introduction of enzyme replacement therapy (ERT) with asfotase alfa has fundamentally altered the natural history of pediatric HPP by supplementing deficient alkaline phosphatase activity at sites of active mineralization, thereby improving skeletal integrity, enhancing survival in severe forms, and supporting long-term functional gains. This therapeutic shift has redirected clinical priorities from survival alone toward sustained functional development and health-related quality of life. Nevertheless, variability in disease expression and therapeutic response persists, reflecting both diagnostic timing and the molecular heterogeneity of ALPL variants, whose phenotypic consequences cannot be predicted with complete certainty. Growing recognition of the importance of early diagnosis has prompted exploratory efforts toward systematic identification strategies, including neonatal screening initiatives reported in selected populations, which suggest the potential for earlier therapeutic intervention during active skeletal development. Together, these considerations highlight pediatric HPP as a model of precision-oriented management in rare metabolic bone disease, where timely diagnosis and targeted enzyme replacement must be aligned with long-term, multidisciplinary care to optimize outcomes.

Ménière’s disease is a complex disorder of the inner ear, characterized by recurrent episodes of vertigo, progressive hearing loss, tinnitus, and aural fullness. The pathophysiology of this condition is dominated by endolymphatic hydrops, reflecting imbalances in fluid regulation and pressure within the membranous labyrinth, which impair cellular function and the transmission of vestibular and auditory signals. Although genetic predisposition provides a susceptible background, recent studies emphasize that non-genetic factors act as critical triggers of clinical events, determining both the onset of symptoms and the modulation of their severity. These factors directly influence pathophysiology by disrupting endolymphatic homeostasis and altering the intracellular and tissue dynamics of the membranous labyrinth, thereby contributing to the phenotypic variability observed among patients. The key to this process lies in the synergistic interaction between genetic predisposition and external or contextual influences, which determines the threshold at which the compensatory mechanisms of the inner ear fail, triggering the characteristic episodes. Understanding this interdependence, as well as the underlying disease mechanisms, provides essential insights for the identification of preventive and therapeutic strategies aimed not only at symptom control but also at modulating the factors that influence susceptibility to endolymphatic imbalance.

Ménière’s disease is an idiopathic disorder of the inner ear whose causes and pathogenetic mechanisms remain insufficiently elucidated. Advances in genetic analysis technologies have shifted attention toward the role of hereditary components in Ménière’s disease, generating a considerable number of studies investigating the relationship between human genetic variations and disease onset. The results of these investigations highlight the complex and heterogeneous nature of pathogenesis, involving both genetic and epigenetic alterations. Studies have identified multiple candidate genes involved in the regulation of endolymphatic fluid homeostasis, immune response, control of oxidative stress, and maintenance of the structural integrity of the inner ear. However, the reproducibility of these associations varies substantially across populations, reflecting the impact of ethnic heterogeneity, HLA haplotypes, and phenotypic diversity among patients. Moreover, non-genetic factors may act as triggers or modulators of the disease in genetically predisposed individuals. Taken together, the evidence supports a polygenic and context-dependent model of the disorder, in which genes influence susceptibility but do not directly determine disease development. Integrating genomic information with clinical data, analyzing immunological profiles, and investigating exposure to environmental factors are essential steps for patient classification and for the development of individualized treatment strategies.