Journal of Clinical Medicine最新文献

{"title":"Blood Pressure Patterns and Hepatosteatosis: Cardiometabolic Risk Assessment in Dipper and Non-Dipper Phenotypes.","authors":"Ramazan Astan, Dimitrios Patoulias, Ana Ninić, Ramazan Dayanan, Paschalis Karakasis, Tolga Mercantepe, Filiz Mercantepe, Aleksandra Klisic","doi":"10.3390/jcm13226976","DOIUrl":"https://doi.org/10.3390/jcm13226976","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Non-dipper hypertension (HT), a condition in which blood pressure does not drop sufficiently at night compared to daytime, is considered a serious condition that increases the risk of cardiovascular disease, stroke, and organ damage. This study aimed to examine the relationship between dipper and non-dipper blood pressure patterns, hepatosteatosis, and biochemical markers in hypertensive and normotensive individuals. <b>Methods:</b> Demographic, biochemical, and hepatic ultrasonography data from 142 patients who underwent 24 h ambulatory blood pressure measurement (ABPM) were evaluated retrospectively and cross-sectionally in this study. Patients were categorized into four groups based on ABPM results: non-dipper normotensive (NDN), dipper normotensive (DN), non-dipper hypertensive (NDH), and dipper hypertensive (DH). <b>Results:</b> The study results indicate that NDH individuals had markedly elevated levels of hepatosteatosis and uric acid compared with DH and normotensive persons (<i>p</i> < 0.001). The grade of hepatosteatosis showed significant discriminatory capacity in differentiating between dipper and non-dipper hypertensive patients, with an AUC of 0.861, specificity of 94%, and sensitivity of 66%. Individuals with hypertension exhibiting a non-dipper pattern demonstrate a greater prevalence of hepatosteatosis and elevated uric acid levels. <b>Conclusions:</b> The study findings show non-dipper patterns have a higher risk for cardiometabolic diseases. This indicates that not only blood pressure, but also metabolic disorders should be closely monitored and treated in the management of non-dipper HT.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chronic Sarcoidosis: Diagnostic Difficulties and Search for New Criteria of Inflammatory Activity (A Case Report and Literature Review).","authors":"Anna Starshinova, Elizaveta Berg, Artem Rubinstein, Anastasia Kulpina, Igor Kudryavtsev, Dmitry Kudlay","doi":"10.3390/jcm13226974","DOIUrl":"https://doi.org/10.3390/jcm13226974","url":null,"abstract":"<p><p>Sarcoidosis is a systemic inflammatory disease with an unknown etiology and a wide range of clinical manifestations. The incidence of sarcoidosis ranges from approximately 1 to 15 cases per 100,000 individuals per year worldwide. The significant variability in clinical presentations and target organs, as well as concomitant diseases, greatly complicates diagnosis. We analyzed articles in PubMed, Scopus, Cochrane Library, and Embase, where databases were searched using the keywords \"chronic sarcoidosis\", \"diagnosis of sarcoidosis\", \"course of sarcoidosis\", \"pulmonary sarcoidosis\", \"cardiac sarcoidosis\", \"skin sarcoidosis\", \"neurosarcoidosis\", \"ocular sarcoidosis\", and \"autoimmune inflammation\". Studies on the course and diagnosis of sarcoidosis with a deep search of ten years were included. In this review, we present an analysis of publications on the course and diagnosis of chronic sarcoidosis, as well as a clinical case. We have noted that the diagnosis of chronic sarcoidosis is particularly difficult due to the lack of specific biomarkers or their combination. The development and introduction of new diagnostic criteria for this disease will contribute to increasing the level of efficiency, not only of the diagnostic complex, but also the prognosis of the development and course of the pathological process. Conclusion: For the most accurate diagnosis and determination of prognosis, the existence of a single immunological or imaging marker with sufficient sensitivity and specificity is necessary.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and Blood Levels of Lacosamide in Patients with Focal Epilepsy.","authors":"Toshiyuki Iwasaki, Toshihiro Kobayashi, Yusaku Miyamoto, Taichi Imaizumi, Shotaro Kaku, Noriko Udagawa, Hitoshi Yamamoto, Naoki Shimizu","doi":"10.3390/jcm13226958","DOIUrl":"https://doi.org/10.3390/jcm13226958","url":null,"abstract":"<p><p><b>Objectives</b>: The aim of this paper is to analyze clinical targets for lacosamide (LCM) blood levels in patients with focal epilepsy. Referring to the LCM optimal range will encourage us to think about the importance and usefulness of measuring its blood levels. <b>Methods</b>: A total of 101 (45 female, 56 male) patients were treated with LCM. Blood sampling was performed 1 month after the start of oral medication (the levels reached a steady state) if the LCM treatment had been continued, and then 6 and 12 months after. The efficacy of LCM was evaluated by the reduction in the epileptic seizure rate (RR) at the time of blood sampling. The patients were classified as effective cases (seizure reduction rate ≥ 50%) and ineffective cases (<50%). The actual level, the calculated peak/trough levels, and the levels for each type of seizure were investigated. A statistical analysis was performed using Spearman's rank correlation coefficient and the Wilcoxon signed-rank test. <b>Results</b>: A positive correlation was seen between blood levels and dosage (r = 0.446). However, the blood levels and RR showed no correlation. The blood levels were higher in effective cases than in ineffective cases at all time points (measurement <i>p</i> < 0.001, peak <i>p</i> = 0.013, trough <i>p</i> = 0.001). Because the range was set so that the effective and ineffective groups did not overlap, the optimal range of LCM was found to be 8.0-10.5 µg/mL. <b>Conclusions</b>: Measuring and calculating blood levels of LCM and adjusting the dosage to reach the optimal range are recommended. Moreover, the optimal range for LCM was determined as a therapeutic target.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cancer and the 10-Year Incidence of Chronic Low Back Pain in 407,314 Adults Followed in General Practices in Germany.","authors":"Karel Kostev, Augustin Latourte, Dong Keon Yon, Josep Maria Haro, Pascal Richette, Johann Beaudreuil, Louis Jacob","doi":"10.3390/jcm13226969","DOIUrl":"https://doi.org/10.3390/jcm13226969","url":null,"abstract":"<p><p><b>Objective:</b> There is a scarcity of data on the long-term relationship between cancer and chronic low back pain (CLBP). Therefore, this retrospective cohort study investigated the association between cancer and the 10-year incidence of CLBP in Germany. <b>Methods:</b> Data collected in 1293 German general practices between 2005 and 2022 were used for the study. Patients diagnosed with cancer were matched to those without cancer (1:1) using a propensity score based on age, sex, the mean number of consultations per year during the follow-up, index year, and several chronic conditions. The index date was the consultation corresponding to cancer diagnosis in the cancer group and a random visit date in the noncancer group. The analyses included Kaplan-Meier curves with the log-rank test and Cox regression models adjusted for other frequent conditions. <b>Results:</b> There were 203,657 adults in the cancer group and 203,657 adults in the noncancer group. The mean (SD) age was 66.2 (14.6) and 66.0 (13.8) years in patients with and without cancer, respectively, with a proportion of women of 51.3-51.8%. Within 10 years of the index date, 16.1% of people with cancer and 18.8% of those without cancer were diagnosed with CLBP (<i>p</i>-value < 0.001). The Cox regression analysis corroborated this finding, as there was a negative and significant association between cancer and CLBP (HR = 0.87, 95% CI = 0.86-0.89). <b>Conclusions:</b> Cancer was not associated with increased odds of CLBP in the decade following its diagnosis in Germany. Due to limitations inherent to the data, caution should be taken when interpreting the study results.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Comparative Analysis of Carlevale IOL Versus Artisan IOL Implantation Using a Scleral Tunnel Incision Technique.","authors":"Justus Obergassel, Peter Heiduschka, Florian Alten, Nicole Eter, Christoph R Clemens","doi":"10.3390/jcm13226964","DOIUrl":"https://doi.org/10.3390/jcm13226964","url":null,"abstract":"<p><p><b>Background:</b> The aim of this retrospective study was to compare the surgical and refractive outcomes using the Carlevale IOL (FIL SSF; SOLEKO) with those of the retropupillary-fixated Artisan IOL (Aphakia Model 205; OPHTEC), implanted through a 6 mm sclerocorneal tunnel incision in both groups. <b>Methods:</b> This study included 51 consecutive eyes (25 Carlevale and 26 Artisan IOLs). Due to complex preoperative conditions (e.g., dislocated polymethylmethacrylat IOL, luxated Cataracta rubra), all patients underwent lens explantation using a standardized 6 mm sclerocorneal tunnel incision and a 23 G or 25 G pars plana vitrectomy. Visual acuity (VA), spherical equivalent, refractive prediction error (PE), incision-suture time, and complication rates were recorded preoperatively and during the follow-up period. <b>Results:</b> The average follow-up period was 40.9 ± 5.7 days. VA improved by 0.28 ± 0.39 logMAR (<i>p</i> < 0.0001) in the Carlevale group and by 0.36 ± 0.47 logMAR (<i>p</i> < 0.0001) in the Artisan group. The improvement was comparable between both groups (<i>p</i> = 0.921). The deviation of the PE was -0.67 ± 0.56 in the Carlevale group and 0.34 ± 0.71 in the Artisan group (<i>p</i> < 0.0001). The mean incision-suture time was 42.5 ± 5.8 min in the Carlevale group and 28.2 ± 6.4 min in the Artisan group. Anterior chamber and vitreous hemorrhages were the most common complications, occurring in 12% in the Carlevale group and 17.2% in the Artisan group. <b>Conclusions:</b> The use of the Carlevale IOL, implanted using a sclerocorneal tunnel technique, presents a valid option for treating complex lens dislocations. The scleral fixation of the Carlevale IOL minimizes risks associated with iris fixation, such as chronic inflammation and pupil distortion, making it particularly suitable for patients with damaged irises.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dry Eye Treatment with Intense Pulsed Light for Improving Visual Outcomes After Cataract Surgery with Diffractive Trifocal Intraocular Lens Implantation.","authors":"Takeshi Teshigawara, Miki Akaishi, Yuki Mizuki, Masaki Takeuchi, Kazuro Yabuki, Seiichiro Hata, Akira Meguro, Nobuhisa Mizuki","doi":"10.3390/jcm13226973","DOIUrl":"https://doi.org/10.3390/jcm13226973","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Meibomian gland dysfunction (MGD)-related dry eye aggravates postoperative visual outcomes in cataracts. Diffractive trifocal intraocular lenses (IOLs) decrease contrast sensitivity (CS). Intense pulsed light (IPL) improves tear film stability and ocular surface conditions in MGD-related dry eyes. We investigated the effect of preoperative MGD-related dry eye treatment combining manual meibomian gland expression (MGX) with IPL (IPL-MGX) on visual outcomes post-cataract surgery with diffractive trifocal IOL implantation. <b>Methods:</b> In this single-center, prospective, and open-label study, we enrolled 67 patients (134 eyes) with MGD-related dry eye undergoing cataract surgery on both eyes. Preoperatively, IPL-MGX was performed on one eye (IPL-MGX group) but not the contralateral eye (control group). Tear break-up time, high-order aberrations, and central superficial punctate keratopathy (C-SPK) were assessed. CS and corrected distance visual acuity were analyzed. Differences between groups were analyzed at 1 week, 1 month, and 3 months postoperatively. <b>Results:</b> The IPL-MGX group showed greater mean tear break-up time and lower mean high-order aberration and C-SPK values after preoperative IPL treatment and postoperatively (all <i>p</i> < 0.01). Postoperative CS was higher in the IPL-MGX group at 1 week (all spatial frequencies) (<i>p</i> < 0.01 [cpd = 2.9, 4.5, 7.1, and 10.2] and <i>p</i> < 0.05 [cpd = 1.1 and 1.8]); 1 month [2.9-10.2 cpd] (<i>p</i> < 0.01); and 3 months [4.5-10.2 cpd] (<i>p</i> < 0.01 [cpd = 10.2] and <i>p</i> < 0.05 [cpd = 4.5 and 7.1]) postoperatively. Mean corrected distance visual acuity was higher in the IPL-MGX group only postoperatively (<i>p</i> < 0.01). <b>Conclusions:</b> Preoperative MGD-related dry eye treatment using IPL-MGX enhances tear film stability, ocular surface conditions, and visual outcomes, potentially improving postoperative vision quality and patient satisfaction.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beta Thalassemia in Children: Established Approaches, Old Issues, New Non-Curative Therapies, and Perspectives on Healing.","authors":"Raffaella Origa, Layal Issa","doi":"10.3390/jcm13226966","DOIUrl":"https://doi.org/10.3390/jcm13226966","url":null,"abstract":"<p><p>Despite a decrease in prevalence and incidence rates, beta thalassemia continues to represent a significant public health challenge worldwide. In high-resource settings, children with thalassemia have an open prognosis, with a high chance of reaching adulthood and old age with a good quality of life. This is achievable if transfusion therapy is properly managed, effectively mitigating ineffective erythropoiesis and its associated complications while also minimizing excessive iron accumulation. Adequate iron chelation is essential to maintain reactive forms of iron within the normal range throughout life, thus preventing organ damage caused by hemosiderosis, which inevitably results from a regular transfusion regimen. New therapies, both curative, such as gene therapy, and non-curative, such as modulators of erythropoiesis, are becoming available for patients with transfusion-dependent beta thalassemia. Two curative approaches based on gene therapy have been investigated in both adults and children with thalassemia. The first approach uses a lentivirus to correct the genetic defect, delivering a functional gene copy to the patient's cells. The second approach employs CRISPR/Cas9 gene editing to directly modify the defective gene at the molecular level. No non-curative therapies have received approval for pediatric use. Among adults, the only available drug is luspatercept, which is currently undergoing clinical trials in pediatric populations. However, in many countries around the world, the new therapeutic options remain a mirage, and even transfusion therapy itself is not guaranteed for most patients, while the choice of iron chelation therapy depends on drug availability and affordability.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Portuguese Lipid Study (e_LIPID).","authors":"Joana Rita Chora, Ana Catarina Alves, Cibelle Mariano, Quitéria Rato, Marília Antunes, Mafalda Bourbon","doi":"10.3390/jcm13226965","DOIUrl":"https://doi.org/10.3390/jcm13226965","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Incidence of cardiovascular disease (CVD) is increasing in low- and middle-income countries because of changing lifestyles. Since dyslipidaemia is a major independent cardiovascular risk factor, its correct identification is critical to implement specific interventions for CVD prevention. This study aimed to characterise the lipid profile of the Portuguese population. <b>Methods</b>: Overall, 1688 individuals from the general population (e_COR study, 2012-2014) were included. Population-specific percentiles for ten lipid biomarkers were estimated by bootstrapping methods to ensure national representativity. Statistical analyses were performed using RStudio. <b>Results</b>: The 50th percentile estimated for total cholesterol (TC), LDL-C, and non-HDL-C are similar to scientific societies recommended values for the general (low or moderate risk) population. National prevalence of having lipid parameters above recommended values was 64.6%, 66.9%, 51.3%, 68.9%, 17.8%, and 21.1% for TC, LDL-C, apoB, non-HDL-C, triglycerides, and Lp(a), respectively; these values are generally higher in men and increasing with age, except for Lp(a). A high prevalence of severe dyslipidaemia (>90th percentile) was identified, highest for small dense LDL-C (31.3%), apoB (30.4%), and LDL-C (30.3%). The national prevalence of CVD events was 5%. Three individuals were genetically identified with familial hypercholesterolemia, a high CVD risk condition. <b>Conclusions</b>: We provide for the first-time lipid biomarker percentiles for the general Portuguese population. Our results highlight that hypercholesterolemia is a neglected cardiovascular risk factor with over half of the population with TC, LDL-C, and apoB above recommended values. Since hypercholesterolemia is a modifiable risk factor, strategies to increase adherence to changes in lifestyle habits and medication need to be urgently discussed.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Initial Real-World Experiences of Pulmonary Vein Isolation and Ablation of Non-Pulmonary Vein Sites Using a Novel Circular Array Pulsed Field Ablation Catheter.","authors":"Joerg Yogarajah, Julie Hutter, Patrick Kahle, Philipp Beaujean, Marko Tomic, Andreas Hain, Samuel Sossalla, Malte Kuniss, Thomas Neumann","doi":"10.3390/jcm13226961","DOIUrl":"https://doi.org/10.3390/jcm13226961","url":null,"abstract":"<p><p><b>Background and Aims:</b> Various pulsed field ablation (PFA) systems are currently being developed. Recently, a novel CE-approved circular array PFA catheter (PulseSelect™ PFA System, Medtronic, Minneapolis, MN, USA) was introduced. Data on this commercially available system are sparse. The aim was to elucidate real-world data assessing the feasibility, safety, and acute efficacy of pulmonary vein isolation (PVI) and ablation beyond PVI with this novel ablation system. <b>Methods:</b> Consecutive patients with paroxysmal and persistent atrial fibrillation (AF) undergoing first-time ablation with the circular PFA catheter were enrolled in this study. In patients with persistent AF and left atrial (LA) enlargement (LA area > 20 cm²), additional left atrial roof ablation (LARA) was performed. Those with concomitant typical atrial flutter received adjunctive cavo-tricuspid isthmus (CTI) ablation. <b>Results:</b> A total of 100 AF patients were included (29% female, 50% persistent AF). Of these, 33 patients (33%) underwent adjunctive LARA, 1 patient (1%) received posterior wall isolation, and 6 patients (6%) required additional CTI ablation. The skin-to-skin procedural time averaged 66.3 ± 13.8 min, while the fluoroscopy time and dose area product were 13.7 ± 4.7 min and 6.8 ± 4.9 Gycm², respectively. Acute PVI was achieved in 100% of pulmonary veins. A bidirectional conduction block of the LARA and CTI lines was confirmed in all patients, and no major adverse events were reported. <b>Conclusions:</b> These real-world data demonstrate the feasibility, safety, and acute efficacy of PVI and ablation beyond PVI using a novel circular array PFA catheter in patients with atrial fibrillation and flutter. The system can easily be integrated with standard PVI workflows. Further and larger studies are warranted to assess the clinical long-term effectiveness and safety of this PFA system.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142728976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myeloproliferative Neoplasms: Challenging Dogma.","authors":"Jerry L Spivak","doi":"10.3390/jcm13226957","DOIUrl":"https://doi.org/10.3390/jcm13226957","url":null,"abstract":"<p><p>Myeloproliferative neoplasms, polycythemia vera, essential thrombocytosis, and primary myelofibrosis are a unique group of clonal hematopoietic stem cell neoplasms that share somatic, gain-in-function driver mutations in <i>JAK</i>2, <i>CALR</i>, and <i>MPL</i>. As a consequence, these disorders exhibit similar phenotypic features, the most common of which are the ceaseless production of normal erythrocytes, myeloid cells, platelets alone or in combination, extramedullary hematopoiesis, myelofibrosis, and a potential for leukemic transformation. In the case of polycythemia vera and essential thrombocytosis, however, prolonged survival is possible. With an incidence value in the range of 0.5-2.0/100,000, myeloproliferative neoplasms are rare disorders, but they are not new disorders, and after a century of scrutiny, their clinical features and natural histories are well-defined, though their individual management continues to be controversial. With respect to polycythemia vera, there has been a long-standing dispute between those who believe that the suppression of red blood cell production by chemotherapy is superior to phlebotomy to prevent thrombosis, and those who do not. With respect to essential thrombocytosis, there is a similar dispute about the role of platelets in veinous thrombosis, and the role of chemotherapy in preventing thrombosis by suppressing platelet production. Linked to these disputes is another: whether therapy with hydroxyurea promotes acute leukemia in disorders with a substantial possibility of longevity. The 21st century revealed new insights into myeloproliferative neoplasms with the discovery of their three somatic, gain-of-function driver mutations. Almost immediately, this triggered changes in the diagnostic criteria for myeloproliferative neoplasms and their therapy. Most of these changes, however, conflicted with prior well-validated, phenotypically driven diagnostic criteria and the management of these disorders. The aim of this review is to examine these conflicts and demonstrate how genomic discoveries in myeloproliferative neoplasms can be used to effectively complement the known phenotypic features of these disorders for their diagnosis and management.</p>","PeriodicalId":15533,"journal":{"name":"Journal of Clinical Medicine","volume":"13 22","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142728997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}