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Genes Jun 2024Lipedema and lymphedema are physically similar yet distinct diseases that are commonly misdiagnosed. We previously reported that lipedema and lymphedema are associated...
Lipedema and lymphedema are physically similar yet distinct diseases that are commonly misdiagnosed. We previously reported that lipedema and lymphedema are associated with increased risk for venous thromboembolism (VTE). The underlying etiology of the prothrombotic profile observed in lipedema and lymphedema is unclear, but may be related to alterations in platelets. Our objective was to analyze the platelet transcriptome to identify biological pathways that may provide insight into platelet activation and thrombosis. The platelet transcriptome was evaluated in patients with lymphedema and lipedema, then compared to control subjects with obesity. Patients with lipedema were found to have a divergent transcriptome from patients with lymphedema. The platelet transcriptome and impacted biological pathways in lipedema were surprisingly similar to weight-matched comparators, yet different when compared to overweight individuals with a lower body mass index (BMI). Differences in the platelet transcriptome for patients with lipedema and lymphedema were found in biological pathways required for protein synthesis and degradation, as well as metabolism. Key differences in the platelet transcriptome for patients with lipedema compared to BMI-matched subjects involved metabolism and glycosaminoglycan processing. These inherent differences in the platelet transcriptome warrant further investigation, and may contribute to the increased risk of thrombosis in patients with lipedema and lymphedema.
Topics: Humans; Lymphedema; Lipedema; Female; Transcriptome; Middle Aged; Blood Platelets; Male; Adult; Body Mass Index; Platelet Activation; Obesity; Case-Control Studies
PubMed: 38927673
DOI: 10.3390/genes15060737 -
Genes May 2024Numerous studies have tried to evaluate the potential role of thrombophilia-related genes in retinal vein occlusion (RVO); however, there is limited research on genes...
Numerous studies have tried to evaluate the potential role of thrombophilia-related genes in retinal vein occlusion (RVO); however, there is limited research on genes related to different pathophysiological mechanisms involved in RVO. In view of the strong contribution of oxidative stress and inflammation to the pathogenesis of RVO, the purpose of the present study was to investigate the association of inflammation- and oxidative-stress-related polymorphisms from three different genes [] and the risk of RVO in a Greek population. Participants in this case-control study were 50 RVO patients (RVO group) and 50 healthy volunteers (control group). Blood samples were collected on EDTA tubes and genomic DNA was extracted. Genotyping of rs854560 (L55M) and rs662 (Q192R) for the gene, rs429358 and rs7412 for the gene and rs1801157 [-3'G(801)A] for gene was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Multiple genetic models (codominant, dominant, recessive, overdominant and log-additive) and haplotype analyses were performed using the SNPStats web tool to assess the correlation between the genetic polymorphisms and the risk of RVO. Binary logistic regression analysis was used for the association analysis between gene variants and RVO. Given the multifactorial nature of the disease, our statistical analysis was adjusted for the most important systemic risk factors (age, hypertension and diabetes mellitus). The dominant genetic model for the Q192R single nucleotide polymorphism (SNP) of the association analysis revealed that there was a statistically significant difference between the RVO group and the control group. Specifically, after adjusting for age and hypertension, the 192 R allele (QR + RR) was found to be associated with a statistically significantly higher risk of RVO compared to the QQ genotype (OR = 2.51; 95% CI = 1.02-6.14, = 0.04). The statistically significant results were maintained after including diabetes in the multivariate model in addition to age and hypertension (OR = 2.83; 95% CI = 1.01-7.97, = 0.042). No statistically significant association was revealed between the other studied polymorphisms and the risk of RVO. Haplotype analysis for SNPs, L55M and Q192R, revealed no statistically significant correlation. In conclusion, 192 R allele carriers (QR + RR) were associated with a statistically significantly increased risk of RVO compared to the QQ homozygotes. These findings suggest that the R allele of the Q192R is likely to play a role as a risk factor for retinal vein occlusion.
Topics: Humans; Aryldialkylphosphatase; Retinal Vein Occlusion; Male; Female; Chemokine CXCL12; Case-Control Studies; Middle Aged; Polymorphism, Single Nucleotide; Aged; Apolipoproteins E; Genetic Predisposition to Disease; Risk Factors; Greece; Haplotypes
PubMed: 38927649
DOI: 10.3390/genes15060712 -
Journal of Cardiothoracic Surgery Jun 2024In a sedated patient, airway compression by a large mediastinal mass can cause acute fatal cardiopulmonary arrest. Extracorporeal membrane oxygenation (ECMO) has been...
BACKGROUND
In a sedated patient, airway compression by a large mediastinal mass can cause acute fatal cardiopulmonary arrest. Extracorporeal membrane oxygenation (ECMO) has been investigated to protect the airway and provided cardiopulmonary stability. The use of ECMO in the management of mediastinal masses was reported, however, the management complicated by cardiopulmonary arrest is poorly documented.
CASE PRESENTATION
32-year-old female presented with acute onset of left arm swelling and subacute onset of dry cough. Further investigation showed a deep venous thrombosis in left upper extremity as well as a large mediastinal mass. She underwent mediastinoscopy with biopsy of the mass which was complicated by cardiopulmonary arrest secondary to airway obstruction by the mediastinal mass. Venoarterial ECMO was initiated, while concurrently treating with a chemotherapy. The mediastinal mass responded to the chemotherapy and reduced in size during 2 days of ECMO support. She was extubated successfully and decannulated after 2 days of ECMO and discharged later.
CONCLUSIONS
Extracorporeal membrane oxygenation can serve as a viable strategy to facilitate cardiopulmonary support while concurrently treating the tumor with chemotherapy, ultimately allowing for the recovery of cardiopulmonary function, and achieving satisfactory outcomes.
Topics: Humans; Extracorporeal Membrane Oxygenation; Female; Adult; Heart Arrest; Mediastinal Neoplasms; Airway Obstruction
PubMed: 38926736
DOI: 10.1186/s13019-024-02918-1 -
Supportive Care in Cancer : Official... Jun 2024Peripherally inserted central catheters (PICCs) and midline catheters (MCs) may offer convenient intravenous access, but evidence to support their place in palliative... (Review)
Review
BACKGROUND
Peripherally inserted central catheters (PICCs) and midline catheters (MCs) may offer convenient intravenous access, but evidence to support their place in palliative care is limited. This review aimed to assess catheter indications, utilization, complications, dwell time, and patient experiences in cancer patients receiving palliative care.
METHODS
A systematic search for studies on catheter utilization for supportive or symptom treatment was conducted in Medline, Embase, CINAHL, Web of Science, Cochrane, and CENTRAL databases. Studies with a study population or a subgroup of palliative care cancer patients were included. Study quality was assessed using the Effective Public Health Practice Quality assessment tool.
RESULTS
Of 7631 unique titles, 17 articles were examined in detail, all published between 2002 and 2022. Median catheter dwell time varied from 15 to 194 days, the longest when utilized for home parenteral nutrition. For pain and symptom management, the typical duration was 2-4 weeks, often until the patient's death. Complication rates were minimal, with thrombosis, infections, and occlusion ranging from 0 to 2.46 incidents per 1000 catheter days. In studies from palliative care services, patients reported minimal distress during procedures and high user satisfaction. Quality of life assessments post-procedure improved, possibly influenced by concurrent specialist palliative care provision. All studies were assessed to be of moderate or weak quality.
CONCLUSION
PICC and MC are safe and valuable tools in palliative care cancer patients who would benefit from intravenous access for symptom management. Further studies are needed to clarify indications for PICC or MC in palliative care.
Topics: Humans; Palliative Care; Neoplasms; Central Venous Catheters; Catheterization, Peripheral; Catheterization, Central Venous
PubMed: 38926160
DOI: 10.1007/s00520-024-08664-3 -
BMJ (Clinical Research Ed.) Jun 2024To investigate the incidence of cardiovascular disease (CVD) overall and by age, sex, and socioeconomic status, and its variation over time, in the UK during 2000-19.
OBJECTIVE
To investigate the incidence of cardiovascular disease (CVD) overall and by age, sex, and socioeconomic status, and its variation over time, in the UK during 2000-19.
DESIGN
Population based study.
SETTING
UK.
PARTICIPANTS
1 650 052 individuals registered with a general practice contributing to Clinical Practice Research Datalink and newly diagnosed with at least one CVD from 1 January 2000 to 30 June 2019.
MAIN OUTCOME MEASURES
The primary outcome was incident diagnosis of CVD, comprising acute coronary syndrome, aortic aneurysm, aortic stenosis, atrial fibrillation or flutter, chronic ischaemic heart disease, heart failure, peripheral artery disease, second or third degree heart block, stroke (ischaemic, haemorrhagic, and unspecified), and venous thromboembolism (deep vein thrombosis or pulmonary embolism). Disease incidence rates were calculated individually and as a composite outcome of all 10 CVDs combined and were standardised for age and sex using the 2013 European standard population. Negative binomial regression models investigated temporal trends and variation by age, sex, and socioeconomic status.
RESULTS
The mean age of the population was 70.5 years and 47.6% (n=784 904) were women. The age and sex standardised incidence of all 10 prespecified CVDs declined by 19% during 2000-19 (incidence rate ratio 2017-19 2000-02: 0.80, 95% confidence interval 0.73 to 0.88). The incidence of coronary heart disease and stroke decreased by about 30% (incidence rate ratios for acute coronary syndrome, chronic ischaemic heart disease, and stroke were 0.70 (0.69 to 0.70), 0.67 (0.66 to 0.67), and 0.75 (0.67 to 0.83), respectively). In parallel, an increasing number of diagnoses of cardiac arrhythmias, valve disease, and thromboembolic diseases were observed. As a result, the overall incidence of CVDs across the 10 conditions remained relatively stable from the mid-2000s. Age stratified analyses further showed that the observed decline in coronary heart disease incidence was largely restricted to age groups older than 60 years, with little or no improvement in younger age groups. Trends were generally similar between men and women. A socioeconomic gradient was observed for almost every CVD investigated. The gradient did not decrease over time and was most noticeable for peripheral artery disease (incidence rate ratio most deprived least deprived: 1.98 (1.87 to 2.09)), acute coronary syndrome (1.55 (1.54 to 1.57)), and heart failure (1.50 (1.41 to 1.59)).
CONCLUSIONS
Despite substantial improvements in the prevention of atherosclerotic diseases in the UK, the overall burden of CVDs remained high during 2000-19. For CVDs to decrease further, future prevention strategies might need to consider a broader spectrum of conditions, including arrhythmias, valve diseases, and thromboembolism, and examine the specific needs of younger age groups and socioeconomically deprived populations.
Topics: Humans; Female; Male; United Kingdom; Incidence; Aged; Middle Aged; Cardiovascular Diseases; Adult; Aged, 80 and over; Social Class; Age Distribution; Sex Distribution; Young Adult
PubMed: 38925788
DOI: 10.1136/bmj-2023-078523 -
Hamostaseologie Jun 2024Atypical sites for thrombosis include deep vein thrombosis (DVT) of the upper extremity (UE-DVT), splanchnic vein thrombosis (SVT), and cerebral venous sinus...
High Prevalence of F2 20210G > A in Splanchnic Vein Thrombosis and Cerebral Venous Sinus Thrombosis: A Retrospective Cohort Study of Patients with Thrombosis in Atypical Sites.
INTRODUCTION
Atypical sites for thrombosis include deep vein thrombosis (DVT) of the upper extremity (UE-DVT), splanchnic vein thrombosis (SVT), and cerebral venous sinus thrombosis (CVST). In addition to specific pathogenic factors, their underlying mechanisms share similarities with typical venous thromboembolism (VTE), namely, DVT of the lower extremity and/or pulmonary embolism, but are less understood.
METHODS
Records of unselected patients with a history of typical VTE ( = 2,011), UE-DVT ( = 117), SVT ( = 83), and CVST ( = 82), who were referred to the Institute in Bonn for ambulatory thrombophilia testing, were retrospectively analyzed. Acquired and hereditary thrombosis risk factors were comparatively assessed.
RESULTS
UE-DVT was characterized by a high rate (50.4%) of site-specific acquired risk factors. Compared with typical VTE, SVT was more frequently associated with systemic inflammation, infection, or malignancy (2.2 vs. 12.0%, = 3·10) and the V617F mutation was present in 16.9%. In CVST compared with typical VTE, demographics and higher rates of oral contraception (43.2 vs. 57.6%, = 0.011) and pregnancy (4.2 vs. 10.9%, = 0.012) suggest a significant hormonal influence on etiology. While the prevalence of inhibitor deficiencies and factor V Leiden mutation did not differ between cohorts, the prevalence of 20210G > A was higher in SVT (15.7%, = 0.003) and CVST (15.9%, = 0.003) than in typical VTE (7.0%).
CONCLUSION
The cohorts with thrombosis in atypical sites showed distinctive patterns of acquired risk factors. Further studies are warranted to provide additional mechanistic insight into the role of hormonal influence in CVST and the contribution of 20210G > A to the development of SVT and CVST.
PubMed: 38925156
DOI: 10.1055/a-2329-1798 -
Hamostaseologie Jun 2024May-Thurner syndrome (MTS) is a pelvic venous disorder involving compression of the left common iliac vein by the right common iliac artery, which results in...
Current Diagnostic and Therapeutic Approaches in May-Thurner Syndrome in Children, Adolescents, and Young Adults: A Survey among Thrombosis Experts of the German Society of Thrombosis and Haemostasis.
May-Thurner syndrome (MTS) is a pelvic venous disorder involving compression of the left common iliac vein by the right common iliac artery, which results in predisposition for deep vein thrombosis. Although MTS is increasingly recognized in young patients, specific guidelines on diagnosis and management for children, adolescents, and young adults do not exist so far. The aim of this study was to assess current diagnostic and therapeutic practice in Germany, Austria, and Switzerland in children and young adults with thrombosis and MTS.We designed an online survey with 11 questions, which we sent via a mailing list to all members of the German, Austrian, and Swiss Society of Thrombosis and Haemostasis Research. Between July and October 2022, 33 specialists answered the questionnaire. Most participating specialists worked at pediatric hospitals (61%). Numbers of annually treated thromboses ranged from <5 (26%) to >30 (13%). Most specialists used venous ultrasound to diagnose deep vein thrombosis, 53% magnetic resonance imaging. Only 25% of specialists systematically screened for MTS in deep vein thrombosis. MTS was managed with anticoagulation (65%), iliac vein stent placement (32%), or balloon angioplasty (13%). In total, 31% of specialists reported to use more than one therapeutic method. Diagnostic and therapeutic approaches for MTS differed between specialists. Lack of standardization resulted in individualized and highly diverse management. Prospective observational clinical studies investigating the outcome of different management strategies including long-term follow-up on outcome and incidence of postthrombotic syndrome will help in defining patient groups who benefit most from revascularizing interventional strategies and developing standardized guidelines.
PubMed: 38925155
DOI: 10.1055/a-2282-4565 -
Plastic and Reconstructive Surgery Jun 2024Reconstructive surgery has experienced a paradigm shift in favor of free flaps. Yet, local flaps may be of particular use in foot and ankle reconstruction among comorbid...
BACKGROUND
Reconstructive surgery has experienced a paradigm shift in favor of free flaps. Yet, local flaps may be of particular use in foot and ankle reconstruction among comorbid patient populations. Thus, we sought to better characterize long-term outcomes in this setting.
METHODS
A single-center, retrospective cohort study of patients undergoing local muscle and fasciocutaneous flaps of the foot and ankle from January 2010-November 2022 was performed. Flap were performed on wounds measuring 3x6cm or smaller, and flap selection depended on preoperative vascular assessment, Doppler findings, comorbidity profile, and wound location, depth, and geometry.
RESULTS
Two-hundred and six patients met inclusion criteria. Median age was 61.0 years (IQR 16.8), and comorbidities included diabetes mellitus (DM; n=149/206, 72.3%) and peripheral arterial disease (PAD; n=105/206, 51.0%). Presentations included chronic, non-healing wounds (n=77/206, 39.1%) or osteomyelitis (n=45/206, 22.8%), and most frequently extended to the bone (n=128/206, 62.1%). Eighty-seven patients (n=87/206, 42.2%) received muscle flaps, while 119 received fasciocutaneous flaps (n=119/206, 57.8%). Six patients (n=6/206, 2.9%) necessitated return to the operating room, with thrombosis occurring in two cases (n=2/206, 1.0%). Flap success rate was 98.1%. By a median follow-up duration of 21.7 months (IQR 39.0), 45 patients (n=45/206, 21.8%) necessitated ipsilateral amputation, 73% (n=145/199) were ambulatory, and two deaths were related to the operated wound (n=2/49, 4.1%). Multivariate analysis revealed positive predictors of complications included DM, end-stage renal disease, and prior histories of venous thromboembolism or smoking.
CONCLUSION
Local flaps remain a reliable option to reconstruct smaller defects of the foot and ankle in a highly comorbid population.
PubMed: 38923878
DOI: 10.1097/PRS.0000000000011601 -
Journal of Cardiovascular Pharmacology Apr 2024Current guidelines recommend that direct anticoagulants should not be used in prevention of recurrent thrombosis in patients with antiphospholipid syndrome (APS)....
Current guidelines recommend that direct anticoagulants should not be used in prevention of recurrent thrombosis in patients with antiphospholipid syndrome (APS). However, except for triple-positive APS and rivaroxaban use, little evidence supports such recommendation. In a real-life cohort study, we evaluated the risk of thromboembolism and bleeding in APS patients on apixaban versus vitamin K antagonists (VKA). We enrolled 152 APS patients (aged 44 [interquartile range 36-56], 83% women), including 66 patients treated with apixaban 5 mg bid and 86 with warfarin (target INR [international normalized ratio] 2-3). During a median follow-up of 53 months, we recorded venous thromboembolism (VTE), ischemic stroke or myocardial infarction, along with major bleeding. We observed 4 (6.1%, 3 VTE and 1 ischemic stroke) thrombotic events in patients on apixaban and 12 events (14%, 9 VTE, 2 ischemic strokes and 1 myocardial infarction) in VKA patients. APS patients on apixaban had similar risk of recurrent thromboembolism compared to those on warfarin (HR=0.327, 95% CI: 0.104-1.035). Thromboembolic events occurred less commonly in statin users (8% vs 50%, p=0.01) and more frequently in triple-positive APS (50% vs 22.1%, p=0.028) and in subjects with higher D-dimer at baseline (p=0.023); the latter difference was present in the apixaban group (p=0.02). Patients on apixaban had similar risk of major bleeding compared to warfarin (HR=0.54, 95% CI: 0.201-1.448). In real-life APS patients apixaban appears to be similar to VKA for the prevention of thromboembolism and risk of bleeding, which might suggest that some APS patients could be treated with apixaban.
PubMed: 38922590
DOI: 10.1097/FJC.0000000000001578 -
Supportive Care in Cancer : Official... Jun 2024To estimate the prevalence of peripherally inserted central catheter (PICC)-related venous thrombosis in patients with hematological malignancies. (Review)
Review
PURPOSE
To estimate the prevalence of peripherally inserted central catheter (PICC)-related venous thrombosis in patients with hematological malignancies.
METHODS
A systematic review of observational studies that evaluated the occurrence of PICC-related venous thrombosis in children, adults, and older people with hematological malignancies was conducted. Searches were carried out on June 12th, 2023 on PubMed, CINAHL, Embase, Web of Science Core Collection, Scopus, and LILACS, and to gray literature on Google Scholar, and ProQuest Dissertations and Theses Global. Eligibility criteria were applied independently by two reviewers, first on the titles and abstracts on the Rayyan platform and then on the full text of eligible studies. Risk of bias was assessed by the JBI checklist. Data were summarized descriptively, and the meta-analysis was carried out using the MetaXL 5.3 software. The review followed JBI guidelines and PRISMA for reporting.
RESULTS
In the 40 studies included, prevalence of PICC-related venous thrombosis was 9% in general, 9% in adults, and 6% in children with hematological malignancies. Most studies only evaluated cases of symptomatic thrombosis (n = 25; 64%).
CONCLUSION
Patients with hematological malignancies using PICC have an estimated prevalence of PICC-related venous thrombosis of 9%, and this rate may be underestimated due to the consideration of mostly symptomatic cases.
Topics: Humans; Hematologic Neoplasms; Prevalence; Catheterization, Peripheral; Venous Thrombosis; Child; Adult; Catheterization, Central Venous
PubMed: 38922487
DOI: 10.1007/s00520-024-08636-7