Depression poses significant challenges to global healthcare systems and impacts the quality of life of individuals and their family members. Recent advancements in artificial intelligence (AI) have had a transformative impact on the diagnosis and treatment of depression. These innovations have the potential to significantly enhance clinical decision-making processes and improve patient outcomes in healthcare settings. AI-powered tools can analyze extensive patient data-including medical records, genetic information, and behavioral patterns-to identify early warning signs of depression, thereby enhancing diagnostic accuracy. By recognizing subtle indicators that traditional assessments may overlook, these tools enable healthcare providers to make timely and precise diagnostic decisions that are crucial in preventing the onset or escalation of depressive episodes. In terms of treatment, AI algorithms can assist in personalizing therapeutic interventions by predicting the effectiveness of various approaches for individual patients based on their unique characteristics and medical history. This includes recommending tailored treatment plans that consider the patient's specific symptoms. Such personalized strategies aim to optimize therapeutic outcomes and improve the overall efficiency of healthcare. This theoretical review uniquely synthesizes current evidence on AI applications in primary care depression management, offering a comprehensive analysis of both diagnostic and treatment personalization capabilities. Alongside these advancements, we also address the conflicting findings in the field and the presence of biases that necessitate important limitations.
{"title":"Is Artificial Intelligence the Next Co-Pilot for Primary Care in Diagnosing and Recommending Treatments for Depression?","authors":"Inbar Levkovich","doi":"10.3390/medsci13010008","DOIUrl":"https://doi.org/10.3390/medsci13010008","url":null,"abstract":"<p><p>Depression poses significant challenges to global healthcare systems and impacts the quality of life of individuals and their family members. Recent advancements in artificial intelligence (AI) have had a transformative impact on the diagnosis and treatment of depression. These innovations have the potential to significantly enhance clinical decision-making processes and improve patient outcomes in healthcare settings. AI-powered tools can analyze extensive patient data-including medical records, genetic information, and behavioral patterns-to identify early warning signs of depression, thereby enhancing diagnostic accuracy. By recognizing subtle indicators that traditional assessments may overlook, these tools enable healthcare providers to make timely and precise diagnostic decisions that are crucial in preventing the onset or escalation of depressive episodes. In terms of treatment, AI algorithms can assist in personalizing therapeutic interventions by predicting the effectiveness of various approaches for individual patients based on their unique characteristics and medical history. This includes recommending tailored treatment plans that consider the patient's specific symptoms. Such personalized strategies aim to optimize therapeutic outcomes and improve the overall efficiency of healthcare. This theoretical review uniquely synthesizes current evidence on AI applications in primary care depression management, offering a comprehensive analysis of both diagnostic and treatment personalization capabilities. Alongside these advancements, we also address the conflicting findings in the field and the presence of biases that necessitate important limitations.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elena E Timechko, Kristina D Lysova, Alexey M Yakimov, Anastasia I Paramonova, Anastasia A Vasilieva, Elena A Kantimirova, Anna A Usoltseva, Albina V Yakunina, Irirna G Areshkina, Diana V Dmitrenko
Background: Epilepsy is a group of disorders characterized by a cluster of clinical and EEG signs leading to the formation of abnormal synchronous excitation of neurons in the brain. It is one of the most common neurological disorders worldwide; and is characterized by aberrant expression patterns; both at the level of matrix transcripts and at the level of regulatory RNA sequences. Aberrant expression of a number of microRNAs can mark a particular epileptic syndrome; which will improve the quality of differential diagnosis. Materials and Methods: In this work; the expression profile of six microRNAs was analyzed: hsa-miR-106b-5p; hsa-miR-134-5p; hsa-miR-122-5p; hsa-miR-132-3p; hsa-miR-155-5p; and hsa-miR-206-5p in the blood plasma of patients suffering from temporal lobe epilepsy (n = 52) and juvenile myoclonic epilepsy (n = 42); n-amount of participants; in comparison with healthy volunteers. The expression analysis was carried out using RT-PCR. Mathematical processing of the data was carried out according to the Livak method. Results: A statistically significant change in the expression of hsa-miR-106b-5p; hsa-miR-134-5p; hsa-miR-122-5p; and hsa-miR-132-3p was found. An increase in the expression of hsa-miR-134-5p and hsa-miR-122-5p was registered in the group of patients with temporal lobe epilepsy compared to the control; as well as an increase in the expression of hsa-miR-132-3p and hsa-miR-106b-5p in the juvenile myoclonic epilepsy group compared to the control. hsa-miR-122-5p; 106b-5p; 132-3p are also able to discriminate groups with different syndromes. Additionally; a number of microRNAs are able to discriminate patients with drug-resistant and drug-sensitive forms of epilepsy from the control; as well as patients with hippocampal sclerosis and patients without hippocampal sclerosis from the control. Conclusion. Our data allow us to propose these microRNAs as plasma biomarkers of various epileptic syndromes.
{"title":"Circulating microRNAs as Biomarkers of Various Forms of Epilepsy.","authors":"Elena E Timechko, Kristina D Lysova, Alexey M Yakimov, Anastasia I Paramonova, Anastasia A Vasilieva, Elena A Kantimirova, Anna A Usoltseva, Albina V Yakunina, Irirna G Areshkina, Diana V Dmitrenko","doi":"10.3390/medsci13010007","DOIUrl":"https://doi.org/10.3390/medsci13010007","url":null,"abstract":"<p><p><b>Background</b>: Epilepsy is a group of disorders characterized by a cluster of clinical and EEG signs leading to the formation of abnormal synchronous excitation of neurons in the brain. It is one of the most common neurological disorders worldwide; and is characterized by aberrant expression patterns; both at the level of matrix transcripts and at the level of regulatory RNA sequences. Aberrant expression of a number of microRNAs can mark a particular epileptic syndrome; which will improve the quality of differential diagnosis. <b>Materials and Methods</b>: In this work; the expression profile of six microRNAs was analyzed: hsa-miR-106b-5p; hsa-miR-134-5p; hsa-miR-122-5p; hsa-miR-132-3p; hsa-miR-155-5p; and hsa-miR-206-5p in the blood plasma of patients suffering from temporal lobe epilepsy (n = 52) and juvenile myoclonic epilepsy (n = 42); n-amount of participants; in comparison with healthy volunteers. The expression analysis was carried out using RT-PCR. Mathematical processing of the data was carried out according to the Livak method. <b>Results</b>: A statistically significant change in the expression of hsa-miR-106b-5p; hsa-miR-134-5p; hsa-miR-122-5p; and hsa-miR-132-3p was found. An increase in the expression of hsa-miR-134-5p and hsa-miR-122-5p was registered in the group of patients with temporal lobe epilepsy compared to the control; as well as an increase in the expression of hsa-miR-132-3p and hsa-miR-106b-5p in the juvenile myoclonic epilepsy group compared to the control. hsa-miR-122-5p; 106b-5p; 132-3p are also able to discriminate groups with different syndromes. Additionally; a number of microRNAs are able to discriminate patients with drug-resistant and drug-sensitive forms of epilepsy from the control; as well as patients with hippocampal sclerosis and patients without hippocampal sclerosis from the control. Conclusion. Our data allow us to propose these microRNAs as plasma biomarkers of various epileptic syndromes.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background/objectives: Pseudomonas aeruginosa is a clinically significant opportunistic pathogen, renowned for its ability to acquire and develop diverse mechanisms of antibiotic resistance. This study examines the resistance, virulence, and regulatory mechanisms in extensively drug-resistant clinical strains of P. aeruginosa.
Methods: Antibiotic susceptibility was assessed using the Minimum Inhibitory Concentration (MIC) method, and whole-genome sequencing (WGS) was performed on the Illumina NovaSeq platform.
Results: The analysis demonstrated a higher prevalence of virulence genes compared to resistance and regulatory genes. Key virulence factors identified included secretion systems, motility, adhesion, and biofilm formation. Resistance mechanisms observed comprised efflux pumps and beta-lactamases, while regulatory systems involved two-component systems, transcriptional regulators, and sigma factors. Additionally, phenotypic profiles were found to correlate with resistance genes identified through genotypic analysis.
Conclusions: This study underscores the significant resistance and virulence of the clinical P. aeruginosa strains analyzed, highlighting the urgent need for alternative strategies to address infections caused by extensively drug-resistant bacteria.
{"title":"Whole-Genome Sequencing of Resistance, Virulence and Regulation Genes in Extremely Resistant Strains of <i>Pseudomonas aeruginosa</i>.","authors":"Nerlis Pajaro-Castro, Erick Diaz-Morales, Kenia Hoyos, Cristhian Ibañez-Bersinger","doi":"10.3390/medsci13010006","DOIUrl":"https://doi.org/10.3390/medsci13010006","url":null,"abstract":"<p><strong>Background/objectives: </strong><i>Pseudomonas aeruginosa</i> is a clinically significant opportunistic pathogen, renowned for its ability to acquire and develop diverse mechanisms of antibiotic resistance. This study examines the resistance, virulence, and regulatory mechanisms in extensively drug-resistant clinical strains of <i>P. aeruginosa</i>.</p><p><strong>Methods: </strong>Antibiotic susceptibility was assessed using the Minimum Inhibitory Concentration (MIC) method, and whole-genome sequencing (WGS) was performed on the Illumina NovaSeq platform.</p><p><strong>Results: </strong>The analysis demonstrated a higher prevalence of virulence genes compared to resistance and regulatory genes. Key virulence factors identified included secretion systems, motility, adhesion, and biofilm formation. Resistance mechanisms observed comprised efflux pumps and beta-lactamases, while regulatory systems involved two-component systems, transcriptional regulators, and sigma factors. Additionally, phenotypic profiles were found to correlate with resistance genes identified through genotypic analysis.</p><p><strong>Conclusions: </strong>This study underscores the significant resistance and virulence of the clinical <i>P. aeruginosa</i> strains analyzed, highlighting the urgent need for alternative strategies to address infections caused by extensively drug-resistant bacteria.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143026003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: CPAP has been shown to be particularly beneficial in the management of acute cardiogenic pulmonary edema by reducing both preload and afterload, thus decreasing the work of breathing and improving oxygenation.
Methods: This study was a prospective observational study, conducted in the period from 2022 to 2024, assessing the effectiveness and safety of prehospital CPAP therapy use in patients with acute cardiogenic pulmonary edema, administered alongside standard care.
Results: In this study, 50 patients with acute cardiogenic pulmonary edema were treated by physician-led emergency teams in the Canton of Sarajevo. CPAP significantly improved clinical parameters across all time points. Systolic blood pressure decreased from 151.0 ± 41.0 mmHg at initial contact to 138.4 ± 32.0 mmHg before transportation and further to 130.2 ± 28.5 mmHg upon hospital admission (p < 0.001). Diastolic pressure dropped from 85.6 ± 17.2 mmHg to 81.1 ± 15.2 mmHg before transportation (p = 0.018), with a slight further decrease to 80.2 ± 13.9 mmHg (p = 0.083). Heart rate fell from 114 ± 26.4 bpm to 111.3 ± 24.9 bpm before transportation (p = 0.003) and finally to 99.5 ± 18.2 bpm before hospital admission (p < 0.001). Respiratory rate decreased from 31.0 ± 10.2 to 28.0 ± 10.5 breaths/min (p = 0.002) and further to 22.6 ± 7.3 breaths/min (p < 0.001). End-tidal CO2 levels increased from 28.0 mmHg (23.5; 33.5) to 30.0 mmHg before transportation (p < 0.001), and to 35.0 mmHg (32.0; 37.5) before hospital admission (p < 0.001). Oxygen saturation improved from 79.0% (72.0; 81.0) to 84.0% before transportation (p < 0.001) and reached 94.0% (91.0; 98.2) before hospital admission (p < 0.001). VAS scores for dyspnea significantly dropped from 8.0 (6.0; 8.2) at initial contact to 6.0 (4.0; 8.0) before transportation (p < 0.001) and further to 4.0 (3.0; 5.0) before hospital admission (p < 0.001), indicating substantial symptom relief. ECG findings remained stable throughout the intervention.
Conclusions: Prehospital CPAP therapy significantly improved clinical outcomes in cardiogenic pulmonary edema, including reductions in blood pressure, heart rate, respiratory rate, and enhanced oxygenation and symptom relief. These findings support its broader use in emergency care, even during short transport times.
{"title":"Impact of Continuous Positive Airway Pressure on Patient Outcomes in Acute Cardiogenic Pulmonary Edema Within Physician-Led Prehospital Care.","authors":"Tatjana Jevtić Drkić, Armin Šljivo, Kenan Ljuhar, Amela Ahmić Tuco, Lamija Hukić Fetahović, Emina Karamehić, Amna Palikuća Ljuhar, Jasna Husejinbegović Musić, Šejla Brković Jusufbegović, Edin Jusufbegović, Selma Terzić Salihbašić, Melica Imamović Bošnjak, Riada Blažević, Amina Valjevac","doi":"10.3390/medsci13010005","DOIUrl":"https://doi.org/10.3390/medsci13010005","url":null,"abstract":"<p><strong>Background: </strong>CPAP has been shown to be particularly beneficial in the management of acute cardiogenic pulmonary edema by reducing both preload and afterload, thus decreasing the work of breathing and improving oxygenation.</p><p><strong>Methods: </strong>This study was a prospective observational study, conducted in the period from 2022 to 2024, assessing the effectiveness and safety of prehospital CPAP therapy use in patients with acute cardiogenic pulmonary edema, administered alongside standard care.</p><p><strong>Results: </strong>In this study, 50 patients with acute cardiogenic pulmonary edema were treated by physician-led emergency teams in the Canton of Sarajevo. CPAP significantly improved clinical parameters across all time points. Systolic blood pressure decreased from 151.0 ± 41.0 mmHg at initial contact to 138.4 ± 32.0 mmHg before transportation and further to 130.2 ± 28.5 mmHg upon hospital admission (<i>p</i> < 0.001). Diastolic pressure dropped from 85.6 ± 17.2 mmHg to 81.1 ± 15.2 mmHg before transportation (<i>p</i> = 0.018), with a slight further decrease to 80.2 ± 13.9 mmHg (<i>p</i> = 0.083). Heart rate fell from 114 ± 26.4 bpm to 111.3 ± 24.9 bpm before transportation (<i>p</i> = 0.003) and finally to 99.5 ± 18.2 bpm before hospital admission (<i>p</i> < 0.001). Respiratory rate decreased from 31.0 ± 10.2 to 28.0 ± 10.5 breaths/min (<i>p</i> = 0.002) and further to 22.6 ± 7.3 breaths/min (<i>p</i> < 0.001). End-tidal CO<sub>2</sub> levels increased from 28.0 mmHg (23.5; 33.5) to 30.0 mmHg before transportation (<i>p</i> < 0.001), and to 35.0 mmHg (32.0; 37.5) before hospital admission (<i>p</i> < 0.001). Oxygen saturation improved from 79.0% (72.0; 81.0) to 84.0% before transportation (<i>p</i> < 0.001) and reached 94.0% (91.0; 98.2) before hospital admission (<i>p</i> < 0.001). VAS scores for dyspnea significantly dropped from 8.0 (6.0; 8.2) at initial contact to 6.0 (4.0; 8.0) before transportation (<i>p</i> < 0.001) and further to 4.0 (3.0; 5.0) before hospital admission (<i>p</i> < 0.001), indicating substantial symptom relief. ECG findings remained stable throughout the intervention.</p><p><strong>Conclusions: </strong>Prehospital CPAP therapy significantly improved clinical outcomes in cardiogenic pulmonary edema, including reductions in blood pressure, heart rate, respiratory rate, and enhanced oxygenation and symptom relief. These findings support its broader use in emergency care, even during short transport times.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sleep apnea-hypopnea syndrome (SAHS) is a respiratory disorder characterized by cessation of breathing during sleep, resulting in daytime somnolence and various comorbidities. SAHS encompasses obstructive sleep apnea (OSA), caused by upper airway obstruction, and central sleep apnea (CSA), resulting from lack of brainstem signaling for respiration. Continuous positive airway pressure (CPAP) therapy is the gold standard treatment for SAHS, reducing apnea and hypopnea episodes by providing continuous airflow. CPAP enhances sleep quality and improves overall health by reducing the risk of comorbidities such as hypertension, type 2 diabetes mellitus, cardiovascular disease and stroke. CPAP nonadherence leads to health deterioration and occurs due to mask discomfort, unsupportive partners, upper respiratory dryness, and claustrophobia. Technological advancements such as auto-titrating positive airway pressure (APAP) systems, smart fit mask interface systems, and telemonitoring devices offer patients greater comfort and enhance adherence. Future research should focus on new technological developments, such as artificial intelligence, which may detect treatment failure and alert providers to intervene accordingly.
{"title":"Long-Term Management of Sleep Apnea-Hypopnea Syndrome: Efficacy and Challenges of Continuous Positive Airway Pressure Therapy-A Narrative Review.","authors":"Zishan Rahman, Ahsan Nazim, Palvi Mroke, Khansa Ali, M D Parbej Allam, Aakash Mahato, Mahveer Maheshwari, Camila Sanchez Cruz, Imran Baig, Ernesto Calderon Martinez","doi":"10.3390/medsci13010004","DOIUrl":"https://doi.org/10.3390/medsci13010004","url":null,"abstract":"<p><p>Sleep apnea-hypopnea syndrome (SAHS) is a respiratory disorder characterized by cessation of breathing during sleep, resulting in daytime somnolence and various comorbidities. SAHS encompasses obstructive sleep apnea (OSA), caused by upper airway obstruction, and central sleep apnea (CSA), resulting from lack of brainstem signaling for respiration. Continuous positive airway pressure (CPAP) therapy is the gold standard treatment for SAHS, reducing apnea and hypopnea episodes by providing continuous airflow. CPAP enhances sleep quality and improves overall health by reducing the risk of comorbidities such as hypertension, type 2 diabetes mellitus, cardiovascular disease and stroke. CPAP nonadherence leads to health deterioration and occurs due to mask discomfort, unsupportive partners, upper respiratory dryness, and claustrophobia. Technological advancements such as auto-titrating positive airway pressure (APAP) systems, smart fit mask interface systems, and telemonitoring devices offer patients greater comfort and enhance adherence. Future research should focus on new technological developments, such as artificial intelligence, which may detect treatment failure and alert providers to intervene accordingly.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dinnar Yahya, Mari Hachmeriyan, Milena Stoyanova, Mariya Levkova
Background: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test's usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value. Our study is the first to describe NIPT integration in Bulgaria. We aimed to evaluate current trends in demand and referral, the frequency of high-risk results, cases of fetal sex discrepancies and their impacts, as well as commonly held misconceptions during genetic counseling. We also address issues and necessary general prophylaxis and prenatal care improvements. Methods: We performed a retrospective analysis on the pregnant women who received GC for NIPT in our genetic center between 2016 and 2023. We separated this period into two due to a significant difference in the test's price. A total of 635 women were included with their referral indications, panel width preference, fetal sex, and SCA. We assessed cases of fetal sex discrepancy, high-risk pregnancies, late NIPT (after GW 18), and commonly occurring issues and misconceptions. Results: We observed a significant increase in the demand for NIPT-63 women for 2016-2020 versus 572 for 2021-2023. The leading indications were supervision of normal pregnancy (50.4%) and advanced maternal age (>35 years) (31.2%). As for late NIPT, the most common indications for this late testing were high risk from a maternal serum screening test (33.3%) and anxiety (25%). Further, 1.1% of results were high-risk for trisomy 18 and 21 and monosomy X. We reviewed two cases of fetal sex discrepancy (0.3%) and common misconceptions twice more during pre-test GC. Conclusions: This single-center experience shows that demand for NIPT is exponentially growing, especially as a normal pregnancy screening method. Delivering thorough education to the community and guaranteeing outstanding care during genetic counseling sessions is crucial for fostering informed decisions and overall well-being.
{"title":"NIPT Integration as a Patient-Paid Prenatal Screening Option-Observations and Challenges from a Bulgarian Genetic Counseling Center.","authors":"Dinnar Yahya, Mari Hachmeriyan, Milena Stoyanova, Mariya Levkova","doi":"10.3390/medsci13010003","DOIUrl":"https://doi.org/10.3390/medsci13010003","url":null,"abstract":"<p><p><i>Background</i>: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test's usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value. Our study is the first to describe NIPT integration in Bulgaria. We aimed to evaluate current trends in demand and referral, the frequency of high-risk results, cases of fetal sex discrepancies and their impacts, as well as commonly held misconceptions during genetic counseling. We also address issues and necessary general prophylaxis and prenatal care improvements. <i>Methods</i>: We performed a retrospective analysis on the pregnant women who received GC for NIPT in our genetic center between 2016 and 2023. We separated this period into two due to a significant difference in the test's price. A total of 635 women were included with their referral indications, panel width preference, fetal sex, and SCA. We assessed cases of fetal sex discrepancy, high-risk pregnancies, late NIPT (after GW 18), and commonly occurring issues and misconceptions. <i>Results</i>: We observed a significant increase in the demand for NIPT-63 women for 2016-2020 versus 572 for 2021-2023. The leading indications were supervision of normal pregnancy (50.4%) and advanced maternal age (>35 years) (31.2%). As for late NIPT, the most common indications for this late testing were high risk from a maternal serum screening test (33.3%) and anxiety (25%). Further, 1.1% of results were high-risk for trisomy 18 and 21 and monosomy X. We reviewed two cases of fetal sex discrepancy (0.3%) and common misconceptions twice more during pre-test GC. <i>Conclusions</i>: This single-center experience shows that demand for NIPT is exponentially growing, especially as a normal pregnancy screening method. Delivering thorough education to the community and guaranteeing outstanding care during genetic counseling sessions is crucial for fostering informed decisions and overall well-being.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Diego Castro Musial, Maria Eduarda Ajita, Guilherme Henrique Souza Bomfim
Diabetes mellitus (DM) is a global health concern with a rising incidence, particularly in aging populations and those with a genetic predisposition. Over time, DM contributes to various complications, including nephropathy, retinopathy, peripheral arterial disease (PAD), and neuropathy. Among these, diabetic neuropathy and PAD stand out due to their high prevalence and significant impact on patients' quality of life. Diabetic distal symmetric polyneuropathy, the most common form of diabetic neuropathy, is driven by neuroinflammation stemming from prolonged hyperglycemia. Simultaneously, hyperglycemia significantly increases the risk of PAD, a condition further exacerbated by factors like smoking, age, and sedentary lifestyles. PAD frequently manifests as claudication, a debilitating symptom marked by pain and cramping during physical activity, which limits mobility and worsens patients' outcomes. Cilostazol, a phosphodiesterase-3 inhibitor, has proven effective in managing intermittent claudication in PAD by improving walking distances and enhancing blood flow. Recent studies have also explored its potential benefits for diabetic neuropathy. Cilostazol's mechanisms include vasodilation, platelet inhibition, and increased cyclic adenosine monophosphate (cAMP) levels, which may contribute to improved neurological outcomes. However, variability in the clinical evidence due to inconsistent treatment protocols highlights the need for further investigation. This review explores cilostazol's mechanisms of action and therapeutic applications for managing neuropathy and PAD in diabetic patients, aiming to provide insights into its potential as a dual-purpose pharmacological agent in this high-risk population.
{"title":"Benefits of Cilostazol's Effect on Vascular and Neuropathic Complications Caused by Diabetes.","authors":"Diego Castro Musial, Maria Eduarda Ajita, Guilherme Henrique Souza Bomfim","doi":"10.3390/medsci13010001","DOIUrl":"https://doi.org/10.3390/medsci13010001","url":null,"abstract":"<p><p>Diabetes mellitus (DM) is a global health concern with a rising incidence, particularly in aging populations and those with a genetic predisposition. Over time, DM contributes to various complications, including nephropathy, retinopathy, peripheral arterial disease (PAD), and neuropathy. Among these, diabetic neuropathy and PAD stand out due to their high prevalence and significant impact on patients' quality of life. Diabetic distal symmetric polyneuropathy, the most common form of diabetic neuropathy, is driven by neuroinflammation stemming from prolonged hyperglycemia. Simultaneously, hyperglycemia significantly increases the risk of PAD, a condition further exacerbated by factors like smoking, age, and sedentary lifestyles. PAD frequently manifests as claudication, a debilitating symptom marked by pain and cramping during physical activity, which limits mobility and worsens patients' outcomes. Cilostazol, a phosphodiesterase-3 inhibitor, has proven effective in managing intermittent claudication in PAD by improving walking distances and enhancing blood flow. Recent studies have also explored its potential benefits for diabetic neuropathy. Cilostazol's mechanisms include vasodilation, platelet inhibition, and increased cyclic adenosine monophosphate (cAMP) levels, which may contribute to improved neurological outcomes. However, variability in the clinical evidence due to inconsistent treatment protocols highlights the need for further investigation. This review explores cilostazol's mechanisms of action and therapeutic applications for managing neuropathy and PAD in diabetic patients, aiming to provide insights into its potential as a dual-purpose pharmacological agent in this high-risk population.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Christina Nikolaou, Maximos Frountzas, Dimitrios Schizas, Vasilios Pergialiotis, Emmanouil I Kapetanakis, Konstantinos Kontzoglou, Despina N Perrea, Efthymios Koniaris, Stylianos Kykalos, Dimitrios Iliopoulos
Background: Burn injuries remain a major clinical problem worldwide, which require special management by experienced plastic surgeons. However, they cannot be available in every healthcare unit; consequently, there is a need for effective treatment options that could be utilized by a wide range of non-expert healthcare professionals. The aim of the present experimental study was to investigate the safety and efficacy of using a fibrin sealant (TISSEELTM) compared to the conventional treatment with sulfadiazine on partial-thickness burn in a rat animal model. Methods: A cohort of Sprague Dawley rats underwent partial-thickness contact thermal burn wounds and were divided into three study groups: control group (no treatment), silver sulfadiazine cream group and TISSEELTM group. Following animal sacrifice, a blinded histopathologic analysis was conducted regarding inflammatory response, healing and tissue regeneration. Results: In total, 30 animals were included with a median weight of 236 ± 10 g. Two animals from the control group died on the first postoperative day. Animals in the TISSEELTM group presented dominant collagen expression compared to animals in the control and silver sulfadiazine cream group (p = 0.000). Histopathologic analysis also demonstrated marked leukocyte infiltration (p = 0.009), increased neovascularization (p = 0.000) and higher fibroblast expression (p = 0.002) in the TISSEELTM group compared to the other two groups. Conclusions: TISSEELTM seems to be a safe alternative (or even principal) option for the initial therapeutic approach of partial-thickness burn injuries. Moreover, it seems to be superior to silver sulfadiazine in terms of tissue healing and regeneration. However, additional experimental as well as clinical research is necessary prior to implementation in clinical practice.
{"title":"Could Fibrin Sealants (TISSEEL<sup>TM</sup>) Be Effective in the Management of Burn Injuries? A Histopathological Study in Rats.","authors":"Christina Nikolaou, Maximos Frountzas, Dimitrios Schizas, Vasilios Pergialiotis, Emmanouil I Kapetanakis, Konstantinos Kontzoglou, Despina N Perrea, Efthymios Koniaris, Stylianos Kykalos, Dimitrios Iliopoulos","doi":"10.3390/medsci12040075","DOIUrl":"10.3390/medsci12040075","url":null,"abstract":"<p><p><b>Background:</b> Burn injuries remain a major clinical problem worldwide, which require special management by experienced plastic surgeons. However, they cannot be available in every healthcare unit; consequently, there is a need for effective treatment options that could be utilized by a wide range of non-expert healthcare professionals. The aim of the present experimental study was to investigate the safety and efficacy of using a fibrin sealant (TISSEEL<sup>TM</sup>) compared to the conventional treatment with sulfadiazine on partial-thickness burn in a rat animal model. <b>Methods:</b> A cohort of Sprague Dawley rats underwent partial-thickness contact thermal burn wounds and were divided into three study groups: control group (no treatment), silver sulfadiazine cream group and TISSEEL<sup>TM</sup> group. Following animal sacrifice, a blinded histopathologic analysis was conducted regarding inflammatory response, healing and tissue regeneration. <b>Results:</b> In total, 30 animals were included with a median weight of 236 ± 10 g. Two animals from the control group died on the first postoperative day. Animals in the TISSEEL<sup>TM</sup> group presented dominant collagen expression compared to animals in the control and silver sulfadiazine cream group (<i>p</i> = 0.000). Histopathologic analysis also demonstrated marked leukocyte infiltration (<i>p</i> = 0.009), increased neovascularization (<i>p</i> = 0.000) and higher fibroblast expression (<i>p</i> = 0.002) in the TISSEEL<sup>TM</sup> group compared to the other two groups. <b>Conclusions:</b> TISSEEL<sup>TM</sup> seems to be a safe alternative (or even principal) option for the initial therapeutic approach of partial-thickness burn injuries. Moreover, it seems to be superior to silver sulfadiazine in terms of tissue healing and regeneration. However, additional experimental as well as clinical research is necessary prior to implementation in clinical practice.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"12 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11677266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marco Dominguez Davalos, José C De La Flor, Carlos Bedia Castillo, Roxana Lipa Chancolla, Celia Rodríguez Tudero, Jacqueline Apaza, Rocío Zamora, Michael Cieza-Terrones
Background: Lupus podocytopathy (LP) is a non-immune complex-mediated glomerular lesion in systemic lupus erythematosus (SLE), characterized by the diffuse effacement of podocyte processes without immune complex deposition or with only mesangial immune complex deposition. LP is a rare cause of nephrotic syndrome in SLE patients with implications for prognosis and treatment.
Case report: We present the case of a 28-year-old woman with a medical history of type 1 diabetes mellitus (T1DM) who presented with lower limb edema, dyspnea, hypercholesterolemia, with nephrotic range proteinuria, without acute kidney injury, and laboratory findings compatible with auto-immune hemolytic anemia. They had negative infectious serology, positive antinuclear antibody (ANA), and an eye fundus examination showing diabetic retinopathy. A biopsy was performed to define the etiology of the renal involvement, which was compatible with LP. Following immuno-suppressive and antiproteinuric therapy, the patient evolved with the complete remission of the nephrotic syndrome.
Conclusions: Lupus podocytopathy is an infrequent anatomopathological entity, so this case is presented as the first reported in Peru, and a literature review is made.
{"title":"An Unusual Case of Nephrotic Range Proteinuria in a Short-Standing Type 1 Diabetic Patient with Newly Diagnosed Systemic Lupus Erythematosus: A Case Report and Literature Review.","authors":"Marco Dominguez Davalos, José C De La Flor, Carlos Bedia Castillo, Roxana Lipa Chancolla, Celia Rodríguez Tudero, Jacqueline Apaza, Rocío Zamora, Michael Cieza-Terrones","doi":"10.3390/medsci12040074","DOIUrl":"10.3390/medsci12040074","url":null,"abstract":"<p><strong>Background: </strong>Lupus podocytopathy (LP) is a non-immune complex-mediated glomerular lesion in systemic lupus erythematosus (SLE), characterized by the diffuse effacement of podocyte processes without immune complex deposition or with only mesangial immune complex deposition. LP is a rare cause of nephrotic syndrome in SLE patients with implications for prognosis and treatment.</p><p><strong>Case report: </strong>We present the case of a 28-year-old woman with a medical history of type 1 diabetes mellitus (T1DM) who presented with lower limb edema, dyspnea, hypercholesterolemia, with nephrotic range proteinuria, without acute kidney injury, and laboratory findings compatible with auto-immune hemolytic anemia. They had negative infectious serology, positive antinuclear antibody (ANA), and an eye fundus examination showing diabetic retinopathy. A biopsy was performed to define the etiology of the renal involvement, which was compatible with LP. Following immuno-suppressive and antiproteinuric therapy, the patient evolved with the complete remission of the nephrotic syndrome.</p><p><strong>Conclusions: </strong>Lupus podocytopathy is an infrequent anatomopathological entity, so this case is presented as the first reported in Peru, and a literature review is made.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"12 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11677153/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: This study aims to investigate the possible effects of gestational diabetes mellitus (GDM) on fetal heart structure and the relationship of this effect with maternal blood sugar control.
Materials and methods: In this cross-sectional study, 19 women with GDM at 24-36 weeks of gestation (case group) and 21 healthy pregnant women at the same weeks of gestation (control group) were examined. Fetal heart structure was evaluated by ultrasonography; interventricular septum (IVS) thickness, right and left ventricular sphericity indices, global sphericity index (GSI) and cardio-thoracic ratio were also measured. In addition, mothers' HbA1c values (an indicator of blood sugar control) were recorded.
Result: An increase in IVS thickness was observed in the fetuses of mothers with GDM. A more rounded trend was observed in the right ventricular structure, but this did not create a significant difference. No significant relationship was found between maternal blood sugar control and fetal heart structure.
Conclusions: This study examined the effects of gestational diabetes on fetal cardiac morphology and the relationship of this effect with maternal glycemic control. Babies of mothers with GDM had a significantly thicker interventricular septum. A more rounded trend was detected in the right ventricular structure. However, this change was not found to be statistically significant. In addition, no significant correlation was found between maternal glycemic control and fetal cardiac morphology.
{"title":"Effects of Gestational Diabetes Mellitus on Fetal Cardiac Morphology.","authors":"Esra Söylemez, Sermet Sağol","doi":"10.3390/medsci12040073","DOIUrl":"10.3390/medsci12040073","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to investigate the possible effects of gestational diabetes mellitus (GDM) on fetal heart structure and the relationship of this effect with maternal blood sugar control.</p><p><strong>Materials and methods: </strong>In this cross-sectional study, 19 women with GDM at 24-36 weeks of gestation (case group) and 21 healthy pregnant women at the same weeks of gestation (control group) were examined. Fetal heart structure was evaluated by ultrasonography; interventricular septum (IVS) thickness, right and left ventricular sphericity indices, global sphericity index (GSI) and cardio-thoracic ratio were also measured. In addition, mothers' HbA1c values (an indicator of blood sugar control) were recorded.</p><p><strong>Result: </strong>An increase in IVS thickness was observed in the fetuses of mothers with GDM. A more rounded trend was observed in the right ventricular structure, but this did not create a significant difference. No significant relationship was found between maternal blood sugar control and fetal heart structure.</p><p><strong>Conclusions: </strong>This study examined the effects of gestational diabetes on fetal cardiac morphology and the relationship of this effect with maternal glycemic control. Babies of mothers with GDM had a significantly thicker interventricular septum. A more rounded trend was detected in the right ventricular structure. However, this change was not found to be statistically significant. In addition, no significant correlation was found between maternal glycemic control and fetal cardiac morphology.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"12 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11677546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}