Bartłomiej Szymczak
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Previous Organizations / Institutes
The organizations / institutes from the scholar's other articles in the past ten years
Research Subjects
Bartłomiej Szymczak has a total of 51 co-authors. Here are the top co-authors by number of shared publications:
- Katarzyna Napiórkowska-Baran
Department of Allergology, Clinical Immunology and Internal Diseases, Collegium Medicum Bydgoszcz, Nicolaus Copernicus University, 87-100 Torun, Poland
11 shared publications - Zbigniew Bartuzi
Department of Allergology, Clinical Immunology and Internal Diseases, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, 85-067 Bydgoszcz, Poland
11 shared publications - Oskar Schmidt
Student Research Club of Clinical Immunology, Department of Allergology, Clinical Immunology and Internal Diseases, Collegium Medicum Bydgoszcz, Nicolaus Copernicus University Torun, 85-067 Bydgoszcz, Poland
6 shared publications - Agata Doligalska-Dolina
Department of Otolaryngology and Laryngological Oncology, Collegium Medicum, Nicolaus Copernicus University, Bydgoszcz, Poland
4 shared publications - Dariusz Łaszczych
Student Research Club of Clinical Immunology, Department of Allergology, Clinical Immunology and Internal Diseases, Collegium Medicum Bydgoszcz, Nicolaus Copernicus University Torun, 85-067 Bydgoszcz, Poland
4 shared publications - Paweł Treichel
Department of Pediatrics, Hematology, Oncology, Immunology, and Transplantology, Nicolaus Copernicus University in Toruń, Ludwik Rydygier Collegium Medicum, Poland
4 shared publications
Latest Publications
- 1 January 2026
- Published by Termedia Sp. z.o.o. in Medical Studies
- Vol. 42 (2) , 242-248
Medical simulation as perceived by students: where are we, and where are we heading?
Introduction: Educational methods involving medical simulation are widespread and standard tools, appreciated by both medical students and educators. Aim of the research: To investigate the opinions of students of selected medical study programs concerning medical simulation (MS)-based classes. Material and methods: A survey questionnaire was conducted on 254 students of medicine, nursing, and paramedicine. The questionnaire consisted of 10 closed questions and one open-ended question, in which respondents could suggest changes to improve the quality of MS-based classes. Results: Most respondents (87%) felt that MS-based classes facilitated learning and the acquisition of practical skills. For nearly 83% of respondents, the number of MS-based classes was insufficient. According to 85% of students, MS-based classes increased their involvement in classes. Most students (92%) appreciated ‘debriefing’ as a component of the simulation but believed that this element of MS needed to be improved to achieve particular learning outcomes. Next, the results were analysed by comparing them in groups according to the medical study programme. The main differences concerned interdisciplinarity, number of hours of MS-based classes, and the role of simulation in medical education. Answers given to the open-ended question highlighted the need to extend theoretical knowledge as part of preparation for MS-based classes, to thoroughly explain technical aspects of available equipment, to increase teachers’ preparation given the specificity of the classes, and to master ‘debriefing’ techniques. Conclusions: Students value MS-based classes. However, their quality should be improved to optimally capitalise on the benefits of this method and to achieve expected learning outcomes.
- 1 January 2026
- Published by Termedia Sp. z.o.o. in Medical Studies
- Vol. 42 (2) , 242-248
Medical simulation as perceived by students: where are we, and where are we heading?
Introduction: Educational methods involving medical simulation are widespread and standard tools, appreciated by both medical students and educators. Aim of the research: To investigate the opinions of students of selected medical study programs concerning medical simulation (MS)-based classes. Material and methods: A survey questionnaire was conducted on 254 students of medicine, nursing, and paramedicine. The questionnaire consisted of 10 closed questions and one open-ended question, in which respondents could suggest changes to improve the quality of MS-based classes. Results: Most respondents (87%) felt that MS-based classes facilitated learning and the acquisition of practical skills. For nearly 83% of respondents, the number of MS-based classes was insufficient. According to 85% of students, MS-based classes increased their involvement in classes. Most students (92%) appreciated ‘debriefing’ as a component of the simulation but believed that this element of MS needed to be improved to achieve particular learning outcomes. Next, the results were analysed by comparing them in groups according to the medical study programme. The main differences concerned interdisciplinarity, number of hours of MS-based classes, and the role of simulation in medical education. Answers given to the open-ended question highlighted the need to extend theoretical knowledge as part of preparation for MS-based classes, to thoroughly explain technical aspects of available equipment, to increase teachers’ preparation given the specificity of the classes, and to master ‘debriefing’ techniques. Conclusions: Students value MS-based classes. However, their quality should be improved to optimally capitalise on the benefits of this method and to achieve expected learning outcomes.
- Open Access
Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights
Background: Inborn errors of immunity (IEIs) are a heterogeneous group of genetically determined disorders that lead to immune dysfunction, recurrent infections, and organ-specific complications. The lungs are among the most commonly affected organs, with both infectious and noninfectious manifestations that significantly contribute to morbidity and mortality. This study aimed to provide a comprehensive overview of pulmonary manifestations in IEI, with emphasis on pathophysiological mechanisms, diagnostic approaches, and therapeutic strategies. Methods: A narrative review and synthesis of current literature and clinical guidelines were conducted, focusing on pulmonary involvement in IEI as classified by the International Union of Immunological Societies (IUIS). The analysis included data on infectious and noninfectious complications, imaging findings, immunological assessments, and management strategies, supported by clinical evidence and expert consensus. Results: Pulmonary manifestations in IEI encompass a wide spectrum of conditions. Infectious complications include recurrent bacterial pneumonias, bronchitis, and opportunistic infections, frequently resulting in irreversible lung damage such as bronchiectasis. Noninfectious complications, including granulomatous–lymphocytic interstitial lung disease (GLILD) and interstitial lung disease (ILD), are common in disorders such as common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA). Early diagnosis using high-resolution computed tomography (HRCT) and immunological testing, combined with the timely initiation of immunoglobulin replacement therapy and anti-biotic prophylaxis, significantly improves prognosis. Conclusions: Pulmonary complications are key clinical indicators of IEI and often precede systemic manifestations. Early, integrated, and interdisciplinary diagnostic and therapeutic management are crucial for preventing irreversible lung damage and improving patient outcomes. Regular monitoring and individualized therapy, including immunoglobulin replacement, targeted immunosuppression, and vaccination, are the cornerstones of effective long-term care in IEI.
Open AccessPulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights
Background: Inborn errors of immunity (IEIs) are a heterogeneous group of genetically determined disorders that lead to immune dysfunction, recurrent infections, and organ-specific complications. The lungs are among the most commonly affected organs, with both infectious and noninfectious manifestations that significantly contribute to morbidity and mortality. This study aimed to provide a comprehensive overview of pulmonary manifestations in IEI, with emphasis on pathophysiological mechanisms, diagnostic approaches, and therapeutic strategies. Methods: A narrative review and synthesis of current literature and clinical guidelines were conducted, focusing on pulmonary involvement in IEI as classified by the International Union of Immunological Societies (IUIS). The analysis included data on infectious and noninfectious complications, imaging findings, immunological assessments, and management strategies, supported by clinical evidence and expert consensus. Results: Pulmonary manifestations in IEI encompass a wide spectrum of conditions. Infectious complications include recurrent bacterial pneumonias, bronchitis, and opportunistic infections, frequently resulting in irreversible lung damage such as bronchiectasis. Noninfectious complications, including granulomatous–lymphocytic interstitial lung disease (GLILD) and interstitial lung disease (ILD), are common in disorders such as common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA). Early diagnosis using high-resolution computed tomography (HRCT) and immunological testing, combined with the timely initiation of immunoglobulin replacement therapy and anti-biotic prophylaxis, significantly improves prognosis. Conclusions: Pulmonary complications are key clinical indicators of IEI and often precede systemic manifestations. Early, integrated, and interdisciplinary diagnostic and therapeutic management are crucial for preventing irreversible lung damage and improving patient outcomes. Regular monitoring and individualized therapy, including immunoglobulin replacement, targeted immunosuppression, and vaccination, are the cornerstones of effective long-term care in IEI.
- Top Cited PapersOpen Access
Global Burden of Allergies: Mechanisms of Development, Challenges in Diagnosis, and Treatment
Allergic diseases represent a major and growing global health concern, with increasing prevalence among both children and adults. This manuscript presents an extensive review of allergy mechanisms, epidemiology, diagnostics, and clinical challenges, highlighting the complex interplay between immune system dysregulation and environmental exposures. The authors provide a structured analysis of hypersensitivity types, with particular focus on IgE-mediated responses, and emphasize the role of immune barrier defects, epigenetics, and the microbiota in allergic pathogenesis. This manuscript explores diagnostic limitations, including test sensitivity, specificity, and the presence of hidden allergens, as well as challenges in identifying food-related or atypical allergic reactions. A novel and valuable aspect is the discussion of allergy as a potential clinical manifestation of primary immunodeficiencies, such as selective IgA deficiency, Wiskott–Aldrich syndrome, hyper-IgE syndrome, and Netherton syndrome. This review also outlines challenges in treatment, especially among polysensitized patients, and examines the psychosocial burden and complications of allergic diseases, including mental health, nutritional deficiencies, and impaired sleep. This comprehensive synthesis underscores the need for early diagnosis, multidisciplinary management, and personalized therapeutic strategies to improve quality of life of allergic patients.
Top Cited PapersOpen AccessGlobal Burden of Allergies: Mechanisms of Development, Challenges in Diagnosis, and Treatment
Allergic diseases represent a major and growing global health concern, with increasing prevalence among both children and adults. This manuscript presents an extensive review of allergy mechanisms, epidemiology, diagnostics, and clinical challenges, highlighting the complex interplay between immune system dysregulation and environmental exposures. The authors provide a structured analysis of hypersensitivity types, with particular focus on IgE-mediated responses, and emphasize the role of immune barrier defects, epigenetics, and the microbiota in allergic pathogenesis. This manuscript explores diagnostic limitations, including test sensitivity, specificity, and the presence of hidden allergens, as well as challenges in identifying food-related or atypical allergic reactions. A novel and valuable aspect is the discussion of allergy as a potential clinical manifestation of primary immunodeficiencies, such as selective IgA deficiency, Wiskott–Aldrich syndrome, hyper-IgE syndrome, and Netherton syndrome. This review also outlines challenges in treatment, especially among polysensitized patients, and examines the psychosocial burden and complications of allergic diseases, including mental health, nutritional deficiencies, and impaired sleep. This comprehensive synthesis underscores the need for early diagnosis, multidisciplinary management, and personalized therapeutic strategies to improve quality of life of allergic patients.
- Top Cited PapersOpen Access
- 8 February 2025
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 14 (4) , 1079
Advances in Biologic Therapies for Allergic Diseases: Current Trends, Emerging Agents, and Future Perspectives
Biologic therapies have revolutionized the treatment of severe allergic diseases, including asthma, atopic dermatitis (AD), chronic spontaneous urticaria (CSU), chronic rhinosinusitis with nasal polyps (CRSwNP), eosinophilic gastrointestinal diseases (EGIDs), and allergic rhinitis (AR). These molecularly targeted agents provide significant benefits for patients unresponsive to conventional treatments by addressing underlying immune mechanisms, particularly type 2 inflammation driven by cytokines such as IL-4, IL-5, and IL-13. Recent advancements include biologics targeting alarmins like thymic stromal lymphopoietin (TSLP) and IL-33, which may address both type 2 and non-type 2 inflammation, broadening their therapeutic scope. Despite their effectiveness, biologics remain expensive, posing socioeconomic challenges, and there are concerns regarding long-term safety and inter-individual variability in responses. Promising innovations such as bispecific antibodies and ultra-long-acting agents are under investigation, alongside digital health tools like remote biomarker monitoring and AI-driven decision support systems, which aim to enhance personalized care. However, disparities in access, particularly for underserved populations, underscore the need for policy reforms and affordable biosimilars. This review synthesizes recent findings and emerging trends, highlighting the evolving role of biologics in transforming allergic disease management and offering insights into future research directions.
- 8 February 2025
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 14 (4) , 1079
Top Cited PapersOpen AccessAdvances in Biologic Therapies for Allergic Diseases: Current Trends, Emerging Agents, and Future Perspectives
Biologic therapies have revolutionized the treatment of severe allergic diseases, including asthma, atopic dermatitis (AD), chronic spontaneous urticaria (CSU), chronic rhinosinusitis with nasal polyps (CRSwNP), eosinophilic gastrointestinal diseases (EGIDs), and allergic rhinitis (AR). These molecularly targeted agents provide significant benefits for patients unresponsive to conventional treatments by addressing underlying immune mechanisms, particularly type 2 inflammation driven by cytokines such as IL-4, IL-5, and IL-13. Recent advancements include biologics targeting alarmins like thymic stromal lymphopoietin (TSLP) and IL-33, which may address both type 2 and non-type 2 inflammation, broadening their therapeutic scope. Despite their effectiveness, biologics remain expensive, posing socioeconomic challenges, and there are concerns regarding long-term safety and inter-individual variability in responses. Promising innovations such as bispecific antibodies and ultra-long-acting agents are under investigation, alongside digital health tools like remote biomarker monitoring and AI-driven decision support systems, which aim to enhance personalized care. However, disparities in access, particularly for underserved populations, underscore the need for policy reforms and affordable biosimilars. This review synthesizes recent findings and emerging trends, highlighting the evolving role of biologics in transforming allergic disease management and offering insights into future research directions.
- Open Access
- 31 January 2025
- Published by MDPI AG in Current Issues in Molecular Biology
- Vol. 47 (2) , 89
Immunomodulatory Effects of Selected Non-Nutritive Bioactive Compounds and Their Role in Optimal Nutrition
The contemporary approach to nutrition increasingly considers the role of non-nutritive bioactive compounds in modulating the immune system and maintaining health. This article provides up-to-date insight into the immunomodulatory effects of selected bioactive compounds, including micro- and macronutrients, vitamins, as well as other health-promoting substances, such as omega-3 fatty acids, probiotics, prebiotics, postbiotics (including butyric acid and sodium butyrate), coenzyme Q10, lipoic acid, and plant-derived components such as phenolic acids, flavonoids, coumarins, alkaloids, polyacetylenes, saponins, carotenoids, and terpenoids. Micro- and macronutrients, such as zinc, selenium, magnesium, and iron, play a pivotal role in regulating the immune response and protecting against oxidative stress. Vitamins, especially vitamins C, D, E, and B, are vital for the optimal functioning of the immune system as they facilitate the production of cytokines, the differentiation of immunological cells, and the neutralization of free radicals, among other functions. Omega-3 fatty acids exhibit strong anti-inflammatory effects and enhance immune cell function. Probiotics, prebiotics, and postbiotics modulate the intestinal microbiota, thereby promoting the integrity of the intestinal barrier and communication between the microbiota and the immune system. Coenzyme Q10, renowned for its antioxidant attributes, participates in the protection of cells from oxidative stress and promotes energy processes essential for immune function. Sodium butyrate and lipoic acid exhibit anti-inflammatory effects and facilitate the regeneration of the intestinal epithelium, which is crucial for the maintenance of immune homeostasis. This article emphasizes the necessity of an integrative approach to optimal nutrition that considers not only nutritional but also non-nutritional bioactive compounds to provide adequate support for immune function. Without them, the immune system will never function properly, because it has been adapted to this in the course of evolution. The data presented in this article may serve as a foundation for further research into the potential applications of bioactive components in the prevention and treatment of diseases associated with immune dysfunction.
- 31 January 2025
- Published by MDPI AG in Current Issues in Molecular Biology
- Vol. 47 (2) , 89
Open AccessImmunomodulatory Effects of Selected Non-Nutritive Bioactive Compounds and Their Role in Optimal Nutrition
The contemporary approach to nutrition increasingly considers the role of non-nutritive bioactive compounds in modulating the immune system and maintaining health. This article provides up-to-date insight into the immunomodulatory effects of selected bioactive compounds, including micro- and macronutrients, vitamins, as well as other health-promoting substances, such as omega-3 fatty acids, probiotics, prebiotics, postbiotics (including butyric acid and sodium butyrate), coenzyme Q10, lipoic acid, and plant-derived components such as phenolic acids, flavonoids, coumarins, alkaloids, polyacetylenes, saponins, carotenoids, and terpenoids. Micro- and macronutrients, such as zinc, selenium, magnesium, and iron, play a pivotal role in regulating the immune response and protecting against oxidative stress. Vitamins, especially vitamins C, D, E, and B, are vital for the optimal functioning of the immune system as they facilitate the production of cytokines, the differentiation of immunological cells, and the neutralization of free radicals, among other functions. Omega-3 fatty acids exhibit strong anti-inflammatory effects and enhance immune cell function. Probiotics, prebiotics, and postbiotics modulate the intestinal microbiota, thereby promoting the integrity of the intestinal barrier and communication between the microbiota and the immune system. Coenzyme Q10, renowned for its antioxidant attributes, participates in the protection of cells from oxidative stress and promotes energy processes essential for immune function. Sodium butyrate and lipoic acid exhibit anti-inflammatory effects and facilitate the regeneration of the intestinal epithelium, which is crucial for the maintenance of immune homeostasis. This article emphasizes the necessity of an integrative approach to optimal nutrition that considers not only nutritional but also non-nutritional bioactive compounds to provide adequate support for immune function. Without them, the immune system will never function properly, because it has been adapted to this in the course of evolution. The data presented in this article may serve as a foundation for further research into the potential applications of bioactive components in the prevention and treatment of diseases associated with immune dysfunction.
- Open Access
- 4 October 2024
- Published by MDPI AG in Healthcare
- Vol. 12 (19) , 1977
Management of a Patient with Cardiovascular Disease Should Include Assessment of Primary and Secondary Immunodeficiencies: Part 2—Secondary Immunodeficiencies
Background: Cardiovascular diseases are among the most common chronic diseases, generating high social and economic costs. Secondary immunodeficiencies occur more often than primary ones and may result from the co-occurrence of specific diseases, treatment, nutrient deficiencies and non-nutritive bio-active compounds that result from the industrial nutrient practices. Objectives: The aim of this article is to present selected secondary immunodeficiencies and their impact on the cardiovascular system. Results: The treatment of a patient with cardiovascular disease should include an assess-ment for immunodeficiencies, because the immune and cardiovascular systems are closely linked. Conclusions: Immune system dysfunctions can significantly affect the course of cardiovascular diseases and their treatment. For this reason, comprehensive care for a patient with cardiovascular disease requires taking into account potential immunodeficiencies, which can have a significant impact on the patient’s health.
- 4 October 2024
- Published by MDPI AG in Healthcare
- Vol. 12 (19) , 1977
Open AccessManagement of a Patient with Cardiovascular Disease Should Include Assessment of Primary and Secondary Immunodeficiencies: Part 2—Secondary Immunodeficiencies
Background: Cardiovascular diseases are among the most common chronic diseases, generating high social and economic costs. Secondary immunodeficiencies occur more often than primary ones and may result from the co-occurrence of specific diseases, treatment, nutrient deficiencies and non-nutritive bio-active compounds that result from the industrial nutrient practices. Objectives: The aim of this article is to present selected secondary immunodeficiencies and their impact on the cardiovascular system. Results: The treatment of a patient with cardiovascular disease should include an assess-ment for immunodeficiencies, because the immune and cardiovascular systems are closely linked. Conclusions: Immune system dysfunctions can significantly affect the course of cardiovascular diseases and their treatment. For this reason, comprehensive care for a patient with cardiovascular disease requires taking into account potential immunodeficiencies, which can have a significant impact on the patient’s health.
- Open Access
- 4 October 2024
- Published by MDPI AG in Healthcare
- Vol. 12 (19) , 1976
Management of a Patient with Cardiovascular Disease Should Include Assessment of Primary and Secondary Immunodeficiencies: Part 1—Primary Immunodeficiencies
Background: Cardiovascular diseases are some of the most prevalent chronic diseases that generate not only high social but also economic costs. It is becoming increasingly crucial to take into account inborn errors of immunity (IEIs, formerly known as primary immunodeficiencies (PIDs)) and secondary immunodeficiencies (SIDs) in the diagnostic and therapeutic management of cardiac patients. The number of diseases classified as IEIs is on the rise, with a current total of 485. It is essential to pay attention not only to already confirmed conditions but also to symptoms suggestive of immunodeficiencies. Objectives: The aim of this article is to present IEIs with cardiovascular symptoms that may cause or exacerbate cardiovascular disease, as well as diagnostic and therapeutic procedures. Results: It is becoming increasingly evident that immunodeficiencies can be responsible for certain cardiovascular conditions, their hastened progression, and difficulties in their control. Conclusions: Early detection of deficiencies improves not only the quality and longevity of patients, but also allows for better control of cardiovascular diseases and even prevention of their occurrence.
- 4 October 2024
- Published by MDPI AG in Healthcare
- Vol. 12 (19) , 1976
Open AccessManagement of a Patient with Cardiovascular Disease Should Include Assessment of Primary and Secondary Immunodeficiencies: Part 1—Primary Immunodeficiencies
Background: Cardiovascular diseases are some of the most prevalent chronic diseases that generate not only high social but also economic costs. It is becoming increasingly crucial to take into account inborn errors of immunity (IEIs, formerly known as primary immunodeficiencies (PIDs)) and secondary immunodeficiencies (SIDs) in the diagnostic and therapeutic management of cardiac patients. The number of diseases classified as IEIs is on the rise, with a current total of 485. It is essential to pay attention not only to already confirmed conditions but also to symptoms suggestive of immunodeficiencies. Objectives: The aim of this article is to present IEIs with cardiovascular symptoms that may cause or exacerbate cardiovascular disease, as well as diagnostic and therapeutic procedures. Results: It is becoming increasingly evident that immunodeficiencies can be responsible for certain cardiovascular conditions, their hastened progression, and difficulties in their control. Conclusions: Early detection of deficiencies improves not only the quality and longevity of patients, but also allows for better control of cardiovascular diseases and even prevention of their occurrence.
- 30 September 2024
- Published by Index Copernicus in Medical Science Pulse
- Vol. 18 (3) , 1-10
Ophthalmologic symptoms as the first manifestation of primary complete empty sella syndrome- case report
Background: Empty sella syndrome (ESS) is a rare condition associated with loss of pituitary gland volume. ESS has a heterogeneous clinical manifestation including endocrine, neurological, and visual deficits. The most common symptoms include chronic headaches and hormonal disturbances associated with hypopituitarism.Aim of the study: To emphasize the role of ophthalmologists in the initial management of intracranial hypertension and the significance of a multidisciplinary approach in the management of ESS.Case report: Primary complete ESS was reported in a 32-year-old male presenting nonspecific ophthalmologic symptoms including ophthalmalgia and subjective worsening of the visual acuity. The ophthalmological exam revealed bilateral optic disk elevation. The subsequent MRI identified a suprasellar cistern invaginating within sella turcica with resulting pituitary gland flattening. A complete empty sella syndrome was confirmed. In addition, idiopathic intracranial hypertension was suspected. The patient was proposed hospitalization in the neurology department for additional testing however, he refused due to personal reasons.Conclusions: To date, only a few papers reported ESS with preliminary ophthalmological symptoms. All patients with nonspecific eye symptoms should have a complex ophthalmological examination. Bilateral optic disk elevation requires urgent imaging of the brain and orbits, and the golden-standard approach remains MRI. During the diagnostic process, the secondary causes of intracranial hypertension including tumor, bleeding, abscess, hydrocephalus, or venous sinus thrombosis must be excluded. Due to the heterogeneous clinical course of ESS, patients require multidisciplinary management and follow-up by endocrinologists, neurologists, neurosurgeons, and ophthalmologists.
- 30 September 2024
- Published by Index Copernicus in Medical Science Pulse
- Vol. 18 (3) , 1-10
Ophthalmologic symptoms as the first manifestation of primary complete empty sella syndrome- case report
Background: Empty sella syndrome (ESS) is a rare condition associated with loss of pituitary gland volume. ESS has a heterogeneous clinical manifestation including endocrine, neurological, and visual deficits. The most common symptoms include chronic headaches and hormonal disturbances associated with hypopituitarism.Aim of the study: To emphasize the role of ophthalmologists in the initial management of intracranial hypertension and the significance of a multidisciplinary approach in the management of ESS.Case report: Primary complete ESS was reported in a 32-year-old male presenting nonspecific ophthalmologic symptoms including ophthalmalgia and subjective worsening of the visual acuity. The ophthalmological exam revealed bilateral optic disk elevation. The subsequent MRI identified a suprasellar cistern invaginating within sella turcica with resulting pituitary gland flattening. A complete empty sella syndrome was confirmed. In addition, idiopathic intracranial hypertension was suspected. The patient was proposed hospitalization in the neurology department for additional testing however, he refused due to personal reasons.Conclusions: To date, only a few papers reported ESS with preliminary ophthalmological symptoms. All patients with nonspecific eye symptoms should have a complex ophthalmological examination. Bilateral optic disk elevation requires urgent imaging of the brain and orbits, and the golden-standard approach remains MRI. During the diagnostic process, the secondary causes of intracranial hypertension including tumor, bleeding, abscess, hydrocephalus, or venous sinus thrombosis must be excluded. Due to the heterogeneous clinical course of ESS, patients require multidisciplinary management and follow-up by endocrinologists, neurologists, neurosurgeons, and ophthalmologists.
- Open Access
- 27 August 2024
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 13 (17) , 5079
Oral Diseases as a Manifestation of Inborn Errors of Immunity
Oral findings such as inflammation, ulcerations, or lesions can indicate serious systemic diseases and should prompt suspicion of acquired chronic conditions or inborn errors of immunity (IEIs). Currently, there are approximately 500 disease entities classified as IEIs, with the list expanding annually. The awareness of the existence of such conditions is of paramount importance, as patients with these disorders frequently necessitate the utilization of enhanced diagnostic techniques. This is exemplified by patients with impaired antibody production, in whom conventional serological methods may prove to be undiagnostic. Patients with IEI may require distinct therapeutic approaches or antimicrobial prophylaxis throughout their lives. An accurate diagnosis and, more importantly, early identification of patients with immune deficiencies is crucial to ensure the quality and longevity of their lives. It is important to note that the failure to establish a proper diagnosis or to provide adequate treatment could also have legal implications for medical professionals. The article presents IEIs, which may manifest in the oral cavity, and their diagnosis alongside therapeutic procedures.
- 27 August 2024
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 13 (17) , 5079
Open AccessOral Diseases as a Manifestation of Inborn Errors of Immunity
Oral findings such as inflammation, ulcerations, or lesions can indicate serious systemic diseases and should prompt suspicion of acquired chronic conditions or inborn errors of immunity (IEIs). Currently, there are approximately 500 disease entities classified as IEIs, with the list expanding annually. The awareness of the existence of such conditions is of paramount importance, as patients with these disorders frequently necessitate the utilization of enhanced diagnostic techniques. This is exemplified by patients with impaired antibody production, in whom conventional serological methods may prove to be undiagnostic. Patients with IEI may require distinct therapeutic approaches or antimicrobial prophylaxis throughout their lives. An accurate diagnosis and, more importantly, early identification of patients with immune deficiencies is crucial to ensure the quality and longevity of their lives. It is important to note that the failure to establish a proper diagnosis or to provide adequate treatment could also have legal implications for medical professionals. The article presents IEIs, which may manifest in the oral cavity, and their diagnosis alongside therapeutic procedures.
- 14 April 2024
- Published by Knowledge E DMCC in Iranian Journal of Allergy, Asthma and Immunology
- Vol. 23 (2) , 168-181
Trial of Cardiovascular Risk Factor Assessment and Transthoracic Echocardiography Results in Patients with Primary Antibody Deficiency
The life expectancy and the risk of developing cardiovascular diseases in patients with inborn errors of immunity are systematically increasing. The aim of the study was to assess cardiovascular risk factors and to evaluate the heart in echocardiography in patients with primary antibody deficiency (PAD). Cardiac echography and selected cardiovascular risk factors, including body mass index, sedentary lifestyle, nicotine, glucose, C-reactive protein, lipid profile, uric acid level, certain chronic diseases, and glucocorticoid use, were analyzed in 94 patients >18 years of age with PAD. Of the patients,25.5% had a cardiovascular disease (mostly hypertension, 18%), 10.5% smoked, 17% were overweight, 14% were obese, and 15% were underweight. Abnormal blood pressure was found in 6.5% of the patients. Lipid metabolism disorders were found in 72.5% of in the studied cohort, increased total cholesterol (45.5%), non-high-density lipoprotein (HDL) (51%), low-density lipoprotein (LDL) (47%), and triglycerides (32%) were observed. Furthermore, 28.5% had a decrease in HDL and 9.5% had a history of hyperuricemia. The average number of risk factors was 5 ± 3 for the entire population and 4 ± 2 for those under 40 years of age. Elevated uric acid levels were found de novo in 4% of participants. In particular, 74.5% of the patients had never undergone an echocardiogram with a successful completion rate of 87% among those tested. Among them, 30% showed parameters within normal limits, primarily regurgitation (92.5%). New pathologies were identified in 28% of patients. Prevention in patients with PAD, aimed at reducing cardiovascular risk, should be a priority. low-density lipoprotein (LDL) (47%), and triglycerides (32%) were observed. Furthermore, 28.5% had a decrease in HDL and 9.5% had a history of hyperuricemia. The average number of risk factors was 5 ± 3 for the entire population and 4 ± 2 for those under 40 years of age. Elevated uric acid levels were found de novo in 4% of participants. In particular, 74.5% of the patients had never undergone an echocardiogram with a successful completion rate of 87% among those tested. Among them, 30% showed parameters within normal limits, primarily regurgitation (92.5%). New pathologies were identified in 28% of patients. Prevention in patients with PAD, aimed at reducing cardiovascular risk, should be a priority.
- 14 April 2024
- Published by Knowledge E DMCC in Iranian Journal of Allergy, Asthma and Immunology
- Vol. 23 (2) , 168-181
Trial of Cardiovascular Risk Factor Assessment and Transthoracic Echocardiography Results in Patients with Primary Antibody Deficiency
The life expectancy and the risk of developing cardiovascular diseases in patients with inborn errors of immunity are systematically increasing. The aim of the study was to assess cardiovascular risk factors and to evaluate the heart in echocardiography in patients with primary antibody deficiency (PAD). Cardiac echography and selected cardiovascular risk factors, including body mass index, sedentary lifestyle, nicotine, glucose, C-reactive protein, lipid profile, uric acid level, certain chronic diseases, and glucocorticoid use, were analyzed in 94 patients >18 years of age with PAD. Of the patients,25.5% had a cardiovascular disease (mostly hypertension, 18%), 10.5% smoked, 17% were overweight, 14% were obese, and 15% were underweight. Abnormal blood pressure was found in 6.5% of the patients. Lipid metabolism disorders were found in 72.5% of in the studied cohort, increased total cholesterol (45.5%), non-high-density lipoprotein (HDL) (51%), low-density lipoprotein (LDL) (47%), and triglycerides (32%) were observed. Furthermore, 28.5% had a decrease in HDL and 9.5% had a history of hyperuricemia. The average number of risk factors was 5 ± 3 for the entire population and 4 ± 2 for those under 40 years of age. Elevated uric acid levels were found de novo in 4% of participants. In particular, 74.5% of the patients had never undergone an echocardiogram with a successful completion rate of 87% among those tested. Among them, 30% showed parameters within normal limits, primarily regurgitation (92.5%). New pathologies were identified in 28% of patients. Prevention in patients with PAD, aimed at reducing cardiovascular risk, should be a priority. low-density lipoprotein (LDL) (47%), and triglycerides (32%) were observed. Furthermore, 28.5% had a decrease in HDL and 9.5% had a history of hyperuricemia. The average number of risk factors was 5 ± 3 for the entire population and 4 ± 2 for those under 40 years of age. Elevated uric acid levels were found de novo in 4% of participants. In particular, 74.5% of the patients had never undergone an echocardiogram with a successful completion rate of 87% among those tested. Among them, 30% showed parameters within normal limits, primarily regurgitation (92.5%). New pathologies were identified in 28% of patients. Prevention in patients with PAD, aimed at reducing cardiovascular risk, should be a priority.