Background: Short stature is a frequent clinical problem with a broad differential diagnosis. Emerging evidence indicates that pathogenic variants in the ACAN gene represent an underrecognized cause of growth failure and are often misclassified as idiopathic short stature. Case presentation: We report two pediatric patients harboring pathogenic ACAN gene variants, both presenting with short stature and distinctive facial dysmorphism. The first patient, a 15-year-old boy, exhibited short stature, advanced bone age, and a characteristic facial gestalt, including ptosis, hypertelorism, down-slanting palpebral fissures, and fleshy auricles, features not previously described in association with aggrecanopathy. Genetic analysis revealed a novel heterozygous frameshift variant, c.5677_5684del (p.Glu1893TrpfsTer8), in exon 12 of the ACAN gene. The second patient, a 5.5-year-old girl, presented with short stature, mild facial dysmorphism (down-slanting palpebral fissures and retracted mandible), and feeding difficulties. Copy number variation analysis identified a heterozygous deletion encompassing exons 15–19 of the ACAN gene. In both patients, the endocrine evaluation was unremarkable, and no chronic systemic disease was identified. The genetic findings were concordant with the clinical phenotype, confirming aggrecanopathy as the underlying cause of growth failure. Conclusions: These cases further delineate the phenotypic spectrum of ACAN-related short stature and underscore the diagnostic value of genetic testing in children with unexplained or idiopathic growth failure. Importantly, we expand the dysmorphological phenotype of aggrecanopathy by describing previously unreported facial features, which may facilitate earlier clinical recognition and diagnosis. The timely identification of pathogenic variants in the ACAN gene may have significant implications for patient management and long-term outcomes.

Introduction and purpose: Cushing Syndrome is a condition associated with a long-term elevated concentration of cortisol in the circulatory system. The most common type of Cushing syndrome is exogenous hypercortisolism, primarily iatrogenic, resulting from long-term glucocorticoid use, which affects multiple biological systems, including carbohydrate metabolism. The aim of our work was to present the mechanisms by which glucocorticoids affect carbohydrate metabolism and compile information on strategies for its management.Background: Glucocorticoids disrupt carbohydrate metabolism causing increased hyperglycemia, insulin resistance and diabetes mellitus. These adverse effects result from increased hepatic gluconeogenesis, reduced glycogenolysis, decreased expression of glucose transporter type 4 (GLUT4) and impaired insulin signaling. The most important factor to reduce the impact of glucocorticoids on carbohydrate metabolism is optimization of glucocorticoid therapy and ensuring proper patient surveillance. A comprehensive medical history and physical examination should be conducted prior to administration of long-term glucocorticoid therapy, with regular blood glucose monitoring throughout treatment. Another key factor is prompt implementation of appropriate pharmacologic therapy. Basal bolus insulin therapy is recommended for managing glucocorticoid-induced hyperglycemia (GIH), with metformin as the preferred oral agent. Equally significant is adopting a balanced diet and regular physical activity.Conclusion: Iatrogenic Cushing syndrome pose a significant problem both for patients and healthcare providers. Studies outline strategies for management of glucocorticoid-induced impaired carbohydrate metabolism, however further research is required to develop evidence-based guidelines to validate and optimize these approaches and improve the quality of life in patients with iatrogenic Cushing syndrome.

Introduction and purpose: Systemic lupus erythematosus is a chronic, multifaceted autoimmune disorder. Throughout its course, it affects multiple organ systems, such as the skin, joints, kidneys, cardiovascular system, and central nervous system, among others. Less frequently observed clinical presentations include gastrointestinal involvement and hepatic symptoms. The objective of this review is to present and familiarise readers with these atypical manifestations, which are mostly not included in the diagnostic criteria for lupus, and which can pose a significant diagnostic challenge. Description of the state of knowledge: Gastrointestinal (GI) and hepatic symptoms among patients with lupus may be related to the disease itself, but can also result from the side effects of treatment, viral infections, or emerge as a consequence of the overlap of two diseases. The gastrointestinal tract may exhibit symptoms of the disease at practically any point along its course, from the oral cavity to the anus. The most common GI manifestations include conditions such as oral ulcers, dysphagia, lupus enteritis, protein-losing enteropathy, intestinal pseudo-obstruction, and pancreatitis. Rare, but clinically significant presentations of lupus involving the liver, which are important due to their chronic health consequences, include autoimmune hepatitis and lupus hepatitis. Conclusions: Patients with systemic lupus erythematosus who present with gastrointestinal or hepatic symptoms require prompt diagnosis, as these conditions, if not properly managed, contribute to increased mortality. It is also possible for these manifestations to appear as the initial signs of SLE. Therefore, familiarity with their characteristics is crucial to avoid delays in diagnosis and in the implementation of appropriate treatment.

Background: Despite standard levothyroxine (LT4) therapy, many patients with hypothyroidism continue to report persistent symptoms such as fatigue, cognitive impairment, and reduced quality of life. This has prompted growing interest in adjunctive therapies, particularly micronutrients and supplements, which may modulate immune function and thyroid gland metabolism. Aim: To evaluate the clinical impact of vitamin D, selenium, zinc, myo-inositol, and synbiotic supplementation in hypothyroid patients—especially those with autoimmune thyroiditis and subclinical hypothyroidism—by analyzing their effects on thyroid function, antibody titers, and patient-reported outcomes. Materials and methods: A systematic literature search was conducted predominantly in PubMed and related biomedical databases. The review included randomized controlled trials (RCTs), systematic reviews, and relevant observational studies published between 2015 and 2025. Studies were analyzed for their findings on selected micronutrients and their influence on biochemical markers (TSH, FT4, FT3, anti-TPO, anti-Tg), immune modulation, and quality of life parameters. Results: Adjunctive supplementation with micronutrients such as selenium, vitamin D, zinc, myo-inositol, and synbiotics shows potential clinical benefits in hypothyroidism management. These include reductions in thyroid autoantibody levels, improvements in thyroid hormone profiles, and better patient-reported outcomes. Synergistic effects were noted particularly for combined regimens, though results varied by baseline nutrient status and study design. Conclusions: Supplementation with selected micronutrients may provide meaningful support in managing hypothyroidism, particularly in patients with residual symptoms despite LT4 therapy. However, larger multi-center RCTs are needed to confirm efficacy, establish optimal dosing, and identify patient subgroups most likely to benefit.

Introduction: High-altitude pulmonary edema (HAPE) is a life-threatening, non-cardiogenic form of pulmonary edema that typically occurs within 2-4 days after rapid ascent above 2,500 meters. It is characterized by hypoxia-induced pulmonary hypertension, increased capillary hydrostatic pressure, and defected alveolar-capillary barrier integrity. Current preventive strategies include gradual ascent and acclimatization, while descent and supplemental oxygen remain the mainstays of treatment. Pharmacological options, including phosphodiesterase type 5 (PDE5) inhibitors such as sildenafil and tadalafil, appear as promising agents due to their pulmonary vasodilatory effects mediated via the nitric oxide (NO)–cGMP pathway. Description of the state of knowledge: This review synthesizes findings from clinical trials, case series, and mechanistic studies published in the last three decades to evaluate the efficacy and safety of PDE5 inhibitors in both the prevention and treatment of HAPE. Evidence indicates that sildenafil and tadalafil effectively reduce pulmonary artery pressure, improve oxygenation, and preserve endothelial barrier function under hypoxic conditions. Their prophylactic use significantly lowers HAPE incidence in high-risk individuals, while therapeutic administration has demonstrated clinical improvement in established cases, particularly when nifedipine use is contraindicated. However, results from some high-altitude trials remain inconclusive, and individual responses may vary based on ascent profile and susceptibility. Conclusions: Overall, PDE5 inhibitors represent a viable adjunct in HAPE management. Further large-scale, randomized studies are necessary to clarify their optimal use, dosage, and comparative efficacy alongside existing pharmacologic options.

Parasitic infections pose a serious health threat worldwide, especially in developing countries, where they affect millions of people. Traditionally, they are seen mainly as something that impacts on the immune system and physiological functions but now more often potential mental health influence is also pointed out. In particular neurotropic parasites, like Toxoplasma gondii, Plasmodium falciparum, Taenia solium i Trypanosoma brucei are capable of modifying brain function which can lead to development of various mental disorders like schizophrenia, depression, epilepsy and sleep disorders. The purpose of this literature review is to analyze the available research on neurobiological mechanisms that show how parasites influence brain function and behaviour. Attention was given to main mechanisms such as changes in neurotransmission, microglial activation, inflammatory responses and structural changes in the brain. In the research results of brain imaging studies (MRI PET) were discussed. They can help understand these mechanisms in detail. Based on literature review, the role of environmental factors and comorbid conditions are also presented. Conclusions indicate the necessity of further research, that will allow understanding of the neurobiological mechanisms of parasitic infections and their influence on mental health.