Medical sciences (Basel, Switzerland)最新文献

{"title":"Placebo-Controlled Trials in the Management of Crohn's Disease: An Umbrella Review of Meta-Analyses.","authors":"Richard Silva, José Nunes de Azevedo, Jorge Pereira Machado, Jorge Magalhães Rodrigues","doi":"10.3390/medsci13010012","DOIUrl":"10.3390/medsci13010012","url":null,"abstract":"<p><strong>Introduction: </strong>Crohn's disease is a chronic inflammatory bowel disease characterized by abdominal pain, diarrhea, and other symptoms. It can lead to significant complications and impact patients' quality of life. Therefore, effective management strategies are essential for improving outcomes.</p><p><strong>Methods: </strong>To assess the efficacy of the treatments for Crohn's disease, this umbrella review systematically addresses systematic reviews and meta-analyses on Crohn's disease management published between 2013 and 2023. The quality of the included studies was assessed using the National Institutes of Health's quality assessment tool.</p><p><strong>Results: </strong>Sixteen studies were included, evaluating various interventions for the induction and maintenance of remission. These included biologic agents (anti-TNF agents, anti-IL-12/23p40 antibodies, and integrin receptor antagonists), antimetabolites, and corticosteroids.</p><p><strong>Conclusions: </strong>The findings suggest that biologic agents may be promising options for both the induction and maintenance of remission in Crohn's disease. Antimetabolites and corticosteroids may be effective in certain cases, but their efficacy and safety profiles require further investigation. The included studies varied in quality and sample size. More research is needed to confirm the findings and establish optimal treatment strategies. Moreover, while biologic agents show promise, the optimal management of Crohn's disease requires further research. A personalized approach considering patient factors and disease characteristics is crucial for optimizing outcomes.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143470128","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}

{"title":"An Unusual Case of Uremic Tumoral Calcinosis with Atypical Manifestation in a Patient on Peritoneal Dialysis: Case Report and Review of the Literature.","authors":"Esperanza Moral Berrio, Roger A Cox Conforme, Raúl Elías, José C De La Flor, Celia Rodríguez Tudero, María Dolores Sánchez de la Nieta-García, Rocío Zamora González-Mariño, Carmen Vozmediano Poyatos","doi":"10.3390/medsci13010011","DOIUrl":"10.3390/medsci13010011","url":null,"abstract":"<p><strong>Background: </strong>Uremic tumoral calcinosis (UTC) is a rare yet severe complication of chronic kidney disease (CKD), predominantly occurring in patients undergoing renal replacement therapy (RRT). It is characterized by extensive soft tissue calcifications, frequently associated with chronic hyperphosphatemia and disruptions to calcium-phosphorus metabolism.</p><p><strong>Case report: </strong>This report describes a 34-year-old woman with end-stage renal disease (ESRD) secondary to lupus nephritis, undergoing continuous ambulatory peritoneal dialysis (CAPD). She presented with a progressively enlarging calcified mass in the proximal phalanx of the third finger on her right hand, accompanied by functional impairment. Laboratory findings revealed persistent hyperphosphatemia (8.8 mg/dL), elevated parathyroid hormone levels (901 pg/mL), and low vitamin D levels (9 ng/mL), indicating significant disturbances to mineral metabolism. Imaging studies, including X-ray and whole-body 18F-Choline positron emission tomography/computed tomography (PET/CT), confirmed the presence of localized calcifications in the soft tissue of the proximal phalanx of the third finger on her right hand and parathyroid hyperplasia, respectively. Initial management included the optimization of phosphate binders and calcimimetic therapy, with the subsequent intensification of dialysis therapy. Transitioning to automated peritoneal dialysis (APD) with high-volume exchanges resulted in a notable improvement in biochemical parameters and the eventual remission of the calcified mass.</p><p><strong>Conclusion: </strong>This case underscores the importance of comprehensive management in dialysis patients, including dietary phosphate restriction, the appropriate use of non-calcium-based binders, and tailored dialysis regimens to prevent and treat CKD-related mineral and bone disorders. It also highlights the utility of imaging modalities such as PET/CT in diagnosing UTC and monitoring response to therapy. Further research is needed to elucidate the pathophysiology of UTC and optimize its management in dialysis patients.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143470124","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}

{"title":"Preoperative Osteoporosis Treatment Reduces Stress Shielding in Total Hip Arthroplasty.","authors":"Ryuichi Kanabuchi, Yu Mori, Kazuyoshi Baba, Hidetatsu Tanaka, Yasuaki Kuriyama, Hideki Fukuchi, Hiroki Kawamata, Toshimi Aizawa","doi":"10.3390/medsci13010010","DOIUrl":"10.3390/medsci13010010","url":null,"abstract":"<p><p><b>Background:</b> Total hip arthroplasty (THA) is a widely used surgical intervention for hip osteoarthritis (HOA), with a rising demand driven by an aging population. Osteoporosis is associated with increased risks of bone loss and implant loosening after THA. While medications such as bisphosphonates and denosumab have shown promise in mitigating these risks, the impact of preoperative osteoporosis treatment on postoperative outcomes remains unclear. This study investigates the effect of preoperative osteoporosis treatment intervention on stress shielding and clinical outcomes in THA patients. <b>Methods:</b> This retrospective study included 107 patients who underwent cementless THA between April 2019 and March 2022. Patients under 60 years old, with a follow-up period of less than one year, or with prior hip surgery were excluded. Participants were divided into two groups: a treatment group receiving osteoporosis medication preoperatively and a non-treatment group. The outcomes assessed included preoperative bone metabolism markers, Bombelli classification, stress shielding grade, and clinical scores. Statistical analysis was performed using the Mann-Whitney U test and Chi-squared test, with significance set at <i>p</i> < 0.05. <b>Results:</b> The preoperative osteoporosis treatment intervention rate was 28.9%. Stress shielding grades were significantly lower in the treatment group (<i>p</i> = 0.001). However, no significant differences were observed in clinical scores one year postoperatively. <b>Conclusion:</b> Preoperative osteoporosis treatment significantly reduced stress shielding incidence, potentially influencing long-term outcomes by preventing bone atrophy-related pain and fractures. Preoperative bone density assessment and osteoporosis treatment intervention are recommended to improve THA outcomes. Larger studies are needed for further validation.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143470130","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}

{"title":"Evaluating the Stress State and the Load-Bearing Fraction as Predicted by an In Vivo Parameter Identification Method for the Abdominal Aorta.","authors":"Jerker Karlsson, Jan-Lucas Gade, Carl-Johan Thore, Carl-Johan Carlhäll, Jan Engvall, Jonas Stålhand","doi":"10.3390/medsci13010009","DOIUrl":"10.3390/medsci13010009","url":null,"abstract":"<p><p><b>Background:</b> Arterial mechanics are crucial to cardiovascular functionality. The pressure-strain elastic modulus often delineates mechanical properties. Emerging methods use non-linear continuum mechanics and non-convex minimization to identify tissue-specific parameters in vivo. Reliability of these methods, particularly their accuracy in representing the in vivo stress state, is a significant concern. This study aims to compare the predicted stress state and the collagen-attributed load-bearing fraction with the stress state from in silico experiments. <b>Methods:</b> Our team has evaluated an in vivo parameter identification method through in silico experiments involving finite element models and demonstrated good agreement with the parameters of a healthy abdominal aorta. <b>Results:</b> The findings suggest that the circumferential stress state is well represented for an abdominal aorta with a low transmural stress gradient. Larger discrepancies are observed in the axial direction. The agreement deteriorates in both directions with an increasing transmural stress gradient, attributed to the membrane model's inability to capture transmural gradients. The collagen-attributed load-bearing fraction is well predicted, particularly in the circumferential direction. <b>Conclusions:</b> These findings underscore the importance of investigating both isotropic and anisotropic aspects of the vessel wall. This evaluation advances the parameter identification method towards clinical application as a potential tool for assessing arterial mechanics.</p>","PeriodicalId":74152,"journal":{"name":"Medical sciences (Basel, Switzerland)","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143470108","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}

{"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025997","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}

{"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025960","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}

{"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143026003","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}

{"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":"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 CO₂ 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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025981","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}

{"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025950","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}

{"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025953","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}