Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia.

Schimke immuno-osseous dysplasia is a rare multisystemic disorder caused by biallelic loss of function of the SMARCAL1 gene that plays a pivotal role in replication fork stabilization and thus DNA repair. Individuals affected from this disease suffer from disproportionate growth failure, steroid resistant nephrotic syndrome leading to renal failure and primary immunodeficiency mediated by T cell lymphopenia. With infectious complications being the leading cause of death in this disease, researching the nature of the immunodeficiency is crucial, particularly as the state is exacerbated by loss of antibodies due to nephrotic syndrome or immunosuppressive treatment. Building on previous findings that identified the loss of IL-7 receptor expression as a possible cause of the immunodeficiency and increased sensitivity to radiation-induced damage, we have employed spectral cytometry and multiplex RNA-sequencing to assess the phenotype and function of T cells ex-vivo and to study changes induced by in-vitro UV irradiation and reaction of cells to the presence of IL-7. Our findings highlight the mature phenotype of T cells with proinflammatory Th1 skew and signs of exhaustion and lack of response to IL-7. UV light irradiation caused a severe increase in the apoptosis of T cells, however the expression of the genes related to immune response and regulation remained surprisingly similar to healthy cells. Due to the disease's rarity, more studies will be necessary for complete understanding of this unique immunodeficiency.

Hepatocellular adenomas with severe intra-abdominal bleeding, related to an underlying coagulation disorder: a case report.

BACKGROUND: Hepatocellular adenoma is a rare benign liver tumor. Typically, hepatocellular adenomas are solitary and are found in young women who use estrogen-containing contraceptives. The occurrence of multiple hepatocellular adenoma has been linked to higher body mass index, and as the prevalence of overweight increases, multiple hepatocellular adenomas are seen more often. An hepatocellular adenoma does not always necessitate treatment, as they can regress under conservative strategies. In incidental cases, an adenoma presents owing to bleeding, which is mostly self-limiting. If it is not, embolization of hepatic involved vessels is indicated. CASE PRESENTATION: In this case report, we discuss a 42-year old Caucasian woman with multiple hepatocellular bleeds, treated by multiple endovascular procedures. After the first embolization of an adenoma in the right liver lobe, a second bleed occurred in the left lobe, necessitating additional endovascular intervention. During admittance, treatment was complicated by pulmonary embolism and a pneumonia. During follow-up, our patient was diagnosed with antiphospholipid syndrome. CONCLUSION: Hepatocellular adenoma is a rare diagnosis that requires centralized expertise. This particular case illustrates the complexity of treatment strategies for associated intra-abdominal bleeding and possible complications. Although liver adenoma is often an incidental finding, it can also result in significant morbidity. Centralization of treatment leads to expertise in managing complex treatment strategies.

Impact of ligation versus repair of isolated popliteal vein injuries on Deep Vein Thrombosis and Pulmonary Embolism incidence in trauma patients: a meta-analysis.

BACKGROUND: Traumatic injuries affecting the veins in the lower extremities have been correlated with both mortality and severe complications. Venous injuries are recognized as a contributing factor to the development of venous thromboembolism, commonly treated through procedures involving either vein ligation or repair. Despite previous efforts, substantial uncertainty remains when it comes to choosing between the execution of ligation versus various reparative techniques. The aim of this study was to evaluate the short-term results of surgically treating traumatic venous injuries through repair compared to ligation, specifically examining the resulting impacts on trauma patients in relation to DVT and PE occurrences. METHOD: A comprehensive search strategy was employed until August 10, 2023, to systematically explore Scopus and PubMed databases. Following the removal of duplicates, two researchers independently assessed the titles and abstracts of the identified studies. Only studies meeting the project's requirements and inclusion criteria, as evaluated through their full texts, were included in our investigation. Our study exclusively focused on original articles, specifically those involving human trauma patients with isolated popliteal vein injuries. Excluded from consideration were review articles, meta-analyses, cellular and molecular research, animal studies, case reports, case series, letters to the editor, posters, duplicates, and publications in languages other than English. The implementation of this systematic review and meta-analysis conformed to the standards delineated in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). RESULT: Conducting a thorough search, the inquiry identified 248 records. The assessment of titles and abstracts led to 51 studies that had the potential for eligibility. After reviewing the full texts of the chosen studies, 4 studies involving 1521 patients constituted the ultimate findings. CONCLUSION: We concluded that the ligation procedure had a higher incidence of pulmonary embolism compared to the repair of vein injuries, while the repair procedure had a higher incidence of deep vein thrombosis than ligation. Additional large-scale randomized controlled trials are still necessary to further support the findings of this meta-analysis.

Concomitance of Pericardial Tamponade and Pulmonary Embolism in an Invasive Mucinous Lung Adenocarcinoma with Atypical Presentation: Diagnostic and Therapeutic Pitfalls-Case Report and Literature Review.

The invasive mucinous adenocarcinoma of the lungs (LIMA) is an uncommon histological subtype of the mucinous adenocarcinoma. In this article, we present the case of a patient with a very high cardiovascular risk profile, diagnosed with LIMA, pericardial tamponade due to secondary dissemination, and pulmonary embolism, whose management rouses many challenges. Despite receiving the correct anticoagulant and antiaggregant therapy, our patient developed repeated acute major cardiovascular events leading to a fatal outcome. To gather additional information on LIMA and the above cluster of pathologies, we performed the first research of the international medical literature for scientific articles published in the last eight years on PubMed, ResearchGate, Clarivate, and Google Scholar. As the first literature research failed to identify any case similar to our patient, we performed a second study of the same databases for subjects with lung adenocarcinoma instead of LIMA and the same comorbidities, and we found 10 cases. LIMA is a less frequent type of adenocarcinoma, with polymorphic radiologic appearances on the chest computed tomography, frequently mimicking pneumonia, and thus delaying the diagnosis and therapy. It has a worse prognosis and higher mortality than the common adenocarcinoma, but information on its secondary dissemination and complications is still required.

Identifying pulmonary embolism - high risk patients after total knee replacement: systematic review.

OBJECTIVE: To determine the incidence, onset, risk factors and mortality of pulmonary embolism in total knee replacement patients. METHODS: The systematic review was conducted in September 2022, and comprised search on PubMed, ScienceDirect, Scopus and Crossref databases for studies published from 1977 till September 7, 2022, in the English language related to the incidence of pulmonary embolism after primary total knee replacement. Cochrane Handbook for Systematic Reviews of Interventions was used to assess risk of bias, and the Newcastle-Ottawa Scale was used to assess the quality of evidence. RESULTS: Of the 3,910 studies initially identified, 66(1.68%) were analysed in detail, which together had 13,258,455 total knee replacement patients. Pulmonary embolism was reported in 76,515(0.58%) cases. The onset of pulmonary embolism ranged 2-150 days post-surgery. Patients with older age, diabetes mellitus, higher body mass index, atrial fibrillation, previous venous thromboembolism, high Charlson Comorbidity Index score, hypertension, arrhythmia and chronic heart failure were at significantly higher risk (p<0.05). The overall mortality rate of pulmonary embolism in such cases ranged 10.53-100%. CONCLUSIONS: Pulmonary embolism is a rare complication after orthopaedic surgery, but it has a very high mortality rate. By recognising the risk factors, attending physicians can optimise the use of chemoprophylaxis, thus preventing pulmonary embolism.

Pulmonary artery air embolism with consequent primary respiratory alkalosis and secondary metabolic alkalosis following ventilation therapy: A case report.

BACKGROUND: An air embolism is a rare complication that occurs after air enters blood vessels, causing almost no to mild symptoms in patients. Although uncommon, air embolism can be deadly. Critical care professionals should know the warning signs of air embolism and be prepared to carry out the necessary therapeutic interventions. To reduce morbidity and death, this clinical condition must be identified early. Here we are presenting a case of pulmonary artery air embolism as a consequence of contrast agent injection in a chest computed tomography study. CASE PRESENTATION: A 70-year-old male patient were presented with pulmonary artery air embolism as a consequence of contrast agent injection in a chest computed tomography study. The patient experienced worsening respiratory symptoms that necessitated oxygen therapy, which resulted in respiratory alkalosis with secondary metabolic alkalosis. Following removal of the BiLevel positive airway pressure, the patient was switched to a 2-L nasal cannula, and his breathing rate increased to 34 breaths/min. After 8.5 hours of monitoring the patient's vital signs, the nasal cannula was removed, and the patient began breathing room air on his own. His vital signs then stabilized and arterial blood gas parameters returned to normal. The patient's condition improved, and he was discharged from the hospital after 9 days. Due to a high level of cytomegalovirus, the discharge prescriptions included valganciclovir film-coated tablets (900 mg, oral BID every 12 hours for 30 days) and apixaban (5 mg BID). The patient was then monitored at the outpatient clinic. CONCLUSION: Although rare, an air embolism can cause minor symptoms if it is small in volume or can be fatal if large. After contrast-enhanced radiological studies, physicians should be aware of any signs of respiratory distress or worsening of symptoms in their patients. Additionally, patients should be mindful of the potential complications associated with ventilation therapy.

The comparative efficacy and safety of factor Xa inhibitors and warfarin for primary thromboprophylaxis in multiple myeloma patients undergoing immunomodulatory therapy.

There are limited data on the optimal choice of anticoagulation in multiple myeloma (MM) patients receiving immunomodulatory drugs (IMiDs). We conducted a propensity score-matched cohort study using the TriNetX database to compare the efficacy and safety of factor Xa inhibitors and warfarin in this patient population. Compared to warfarin, factor Xa inhibitors had a similar risk of deep vein thrombosis (hazard ratio [HR]: 1.11 [95% CI: 0.50-2.46]) or pulmonary embolism (HR: 1.08 [95% CI: 0.59-2.00]). There were no differences in the risk of gastrointestinal or intracranial bleeding. Factor Xa inhibitor-treated patients had lower all-cause mortality (HR: 0.56 [95% CI: 0.36-0.86]) compared with warfarin. These data suggest that factor Xa inhibitors had similar safety and efficacy compared with warfarin for MM patients on IMiDs.

Cardiovascular disease risk after a SARS-CoV-2 infection: A systematic review and meta-analysis.

OBJECTIVES: To our knowledge, there is no systematic review examining CVD risks after a SARS-CoV-2 infection over time, while also taking into account disease severity. All evidence on the risk for pulmonary embolism (PE), myocardial infarction (MI), ischaemic stroke (IS), haemorrhagic stroke (HS), and arterial thrombosis following infection was evaluated. METHODS: The protocol was registered with PROSPERO. We searched Pubmed, Embase, MedRxiv and screened the titles/abstracts and full texts. We extracted the included studies, assessed their quality, and estimated pooled risks by time after infection and according to disease severity. RESULTS: Risks were highest in the acute phase [PE: 27.1 (17.8-41.10); MI: 4.4 (1.6-12.4); stroke: 3.3 (2.1-5.2); IS: 5.6 (2.1-14.8); HS: 4.0 (0.1-326.2)] compared to the post-acute phase [PE: 2.9 (2.6-3.3); MI: 1.4 (1.1-1.9); stroke: 1.4 (1.0-2.0); IS: 1.6 (0.9-2.7)]. Highest risks were observed after infection confirmation, dropping during the first month post-infection (e.g. PE: RR(7 days) = 31; RR(1 month) = 8.1). A doubled risk was still observed until 4.5 months for PE, one month for MI and two months for IS. Risks decreased with decreasing disease severity. CONCLUSIONS: Because of increased risk of CVD outcomes, management of persons who survived a severe SARS-CoV-2 infection is required, especially during the first nine months post-infection.

Computed tomography imaging-based radiologic evaluation of pulmonary artery thrombosis in a series of patients with Behcet's disease.

AIM: Pulmonary artery involvement is a severe complication of Behcet's disease (BD). Although venous thrombosis is common in BD, pulmonary embolism is considered to be rare because the inflammatory nature makes the thrombi strongly adherent to the venous walls. This study aimed to define the radiological characteristics of pulmonary artery thrombosis (PAT) on computed tomography (CT) imaging in BD patients. METHODS: We retrospectively evaluated 165 BD patients with vascular involvement. Among the patients with venous involvement (n = 146), we identified 65 patients who had undergone thorax CT imaging previously. Fourteen patients who were diagnosed with PAT were included in the study. Expert radiologists re-evaluated the patients' initial and control thorax CT scans, classified the PAT as acute or chronic based on their radiological features. RESULTS: The patients' median age was 35 (min-max: 15-60) years at the time of the initial CT scan, and nine were male. Twelve (85.7%) patients were symptomatic at the time of CT evaluation. Upon re-evaluating the thorax CTs, acute PAT was diagnosed in six (42.8%); chronic PAT was detected in eight (57.1%) patients. Two patients with chronic PAT also had acute PAT. Pulmonary artery aneurysms were present in three (21.4%) patients, and intracardiac thrombus was found in three (21.4%) patients. CONCLUSION: A significant number of BD patients with venous involvement had radiological findings consistent with acute PAT potentially due to pulmonary emboli in this study. The clinical importance of these lesions has to be defined with future studies.

Cardiopulmonary Complications after Pulmonary Embolism in COVID-19.

Although pulmonary embolism (PE) is a frequent complication in COVID-19, its consequences remain unknown. We performed pulmonary function tests, echocardiography and computed tomography pulmonary angiography and identified blood biomarkers in a cohort of consecutive hospitalized COVID-19 patients with pneumonia to describe and compare medium-term outcomes according to the presence of PE, as well as to explore their potential predictors. A total of 141 patients (56 with PE) were followed up during a median of 6 months. Post-COVID-19 radiological lung abnormalities (PCRLA) and impaired diffusing capacity for carbon monoxide (DLCOc) were found in 55.2% and 67.6% cases, respectively. A total of 7.3% had PE, and 6.7% presented an intermediate-high probability of pulmonary hypertension. No significant difference was found between PE and non-PE patients. Univariate analysis showed that age > 65, some clinical severity factors, surfactant protein-D, baseline C-reactive protein, and both peak red cell distribution width and Interleukin (IL)-10 were associated with DLCOc < 80%. A score for PCRLA prediction including age > 65, minimum lymphocyte count, and IL-1ß concentration on admission was constructed with excellent overall performance. In conclusion, reduced DLCOc and PCRLA were common in COVID-19 patients after hospital discharge, but PE did not increase the risk. A PCRLA predictive score was developed, which needs further validation.

Pulmonary Embolism in Klippel-Trenaunay-Weber Syndrome With Slipped Capital Femoral Epiphysis.

CASE: A 12-year-old boy with Klippel-Trenaunay-Weber syndrome underwent surgery for unstable slipped capital femoral epiphysis who developed pulmonary embolism postoperatively. CONCLUSION: It is important to be vigilant about pulmonary embolism in children because it is rare but potentially fatal, especially in the presence of risk factors. Early diagnosis and treatment of unstable slipped capital femoral epiphysis are crucial to minimize immobility. Close monitoring of femoral head osteonecrosis is also necessary.

Percutaneous pulmonary aspiration thrombectomy in an adolescent fontan patient using a large-bore system.

We describe the safe and effective percutaneous pulmonary thrombectomy in an 18-year-old female with a Fontan circulation using the FlowTriever® device (Inari Medical®, Irvine, US). Aspiration thrombectomy of both pulmonary arteries was performed using 24 and 16 F FlowTriever® catheters retrieving large amounts of thrombus material resulting in near total angiographic recanalization.

Cohort study of cardiovascular safety of different COVID-19 vaccination doses among 46 million adults in England.

The first dose of COVID-19 vaccines led to an overall reduction in cardiovascular events, and in rare cases, cardiovascular complications. There is less information about the effect of second and booster doses on cardiovascular diseases. Using longitudinal health records from 45.7 million adults in England between December 2020 and January 2022, our study compared the incidence of thrombotic and cardiovascular complications up to 26 weeks after first, second and booster doses of brands and combinations of COVID-19 vaccines used during the UK vaccination program with the incidence before or without the corresponding vaccination. The incidence of common arterial thrombotic events (mainly acute myocardial infarction and ischaemic stroke) was generally lower after each vaccine dose, brand and combination. Similarly, the incidence of common venous thrombotic events, (mainly pulmonary embolism and lower limb deep venous thrombosis) was lower after vaccination. There was a higher incidence of previously reported rare harms after vaccination: vaccine-induced thrombotic thrombocytopenia after first ChAdOx1 vaccination, and myocarditis and pericarditis after first, second and transiently after booster mRNA vaccination (BNT-162b2 and mRNA-1273). These findings support the wide uptake of future COVID-19 vaccination programs.

Cerebrovascular events and thrombolysis in pulmonary embolism-induced cardiac arrest: a case series and key challenges.

BACKGROUND AND PURPOSE: Cerebrovascular events during thrombolysis in cardiac arrest (CA) caused by pulmonary embolism (PE) is a life-threatening condition. However, the balance between cerebrovascular events and thrombolytic therapy in PE-induced CA remains a great challenge. METHODS: In this study, we reported three unique cases regarding main concerns surrounding cerebrovascular events in thrombolytic therapy in PE-induced CA. RESULTS: The patient in the case 1 treated with thrombolysis during CPR and finally discharged neurologically intact. The patient in the case 2 received delayed thrombolysis and died eventually. The patient in the case 3 was contraindicated to thrombolysis due to the complication of subarachioid hemorrahage and died within days. CONCLUSIONS: Our case series highlights three proposed approaches to consider before administering thrombolysis as a treatment option in PE-induced CA patients: (1) prolonging the resuscitation, (2) administering thrombolysis promptly, and (3) ruling out cerebrovascular events.

Has the Coronavirus Disease 2019 Pandemic Played a Role in the Early Detection of Pulmonary Embolism in Children?

OBJECTIVE: Pulmonary embolism (PE) poses a significant threat to children, and nonspecific symptoms lead to delayed diagnosis. The emergence of coronavirus disease 2019 (COVID-19) has increased the complexity as it is associated with similar symptoms and increased risk of thrombotic complications. This study aimed to assess the risk factors, clinical presentations, and diagnostic features of PE in pediatric patients and to examine the impact of the COVID-19 pandemic on children with PE. MATERIALS AND METHODS: We conducted a retrospective descriptive study examining the clinical and diagnostic data of 44 pediatric patients with radiologically confirmed PE. The study compared and analyzed patients diagnosed before and during the COVID-19 pandemic. RESULTS: In the study, 21 of 44 pediatric patients were diagnosed in the 4 years before the COVID-19 pandemic, and 23 were diagnosed with PE during the COVID-19 pandemic. The mean time to diagnosis was 8 (2 to 14) days before the pandemic and 1 (1 to 2) days during the pandemic ( P < 0.001). The most common associated condition in both groups was infection (65.9%). Dyspnea (65.9%) and tachypnea (50.0%) were common symptoms. Except for deep vein thrombosis, there were no significant differences according to associated conditions between the groups ( P = 0.001). Pulmonary emboli were anatomically detected using computed tomography angiography, showing bilateral involvement in 45.4% of patients, segmental artery involvement in 38.6%, and main artery involvement in 15.9%. CONCLUSION: The COVID-19 pandemic heightened suspicion of pediatric PE and accelerated diagnosis. Standardized diagnostic guidelines are increasingly necessary to balance accurate diagnosis with avoiding excessive imaging.

Intraventricular Thrombosis and Pulmonary Embolism Post-Nuss Procedure: A Rare Case of Chronic Bar Displacement in a 16-Year-Old Patient.

This novel report presents the first known case, to our knowledge, of a 16-year-old male patient who experienced intraventricular thrombosis and pulmonary embolism after a Nuss procedure for pectus excavatum, attributed to chronic bar displacement. Two years after the operation, the patient experienced post-exercise cough and hemoptysis, which led to his admission. Imaging revealed pulmonary embolism, thrombosis in the right ventricular outflow tract, and lung infiltrative lesions. We hypothesize that the chronic bar displacement led to its embedment in the right ventricle, resulting in thrombus formation, which subsequently contributed to partial pulmonary embolism. Surgery revealed the bars' intrusion into the right ventricle and lung. This case highlights the risk of severe complications from bar displacement in the Nuss procedure, which necessitates long-term follow-up evaluation, caution against strenuous activities after surgery, and use of thoracoscopic guidance during bar implantation and removal. It underscores the importance of vigilant evaluation for late-stage complications in patients with respiratory distress or thrombosis after a Nuss procedure.

Incidence and risk factors of postoperative pulmonary complications following total hip arthroplasty revision: a retrospective Nationwide Inpatient Sample database study.

BACKGROUND: Postoperative pulmonary complications (PPCs) are among the most severe complications following total hip arthroplasty revision (THAR), imposing significant burdens on individuals and society. This study examined the prevalence and risk factors of PPCs following THAR using the NIS database, identifying specific pulmonary complications (SPCs) and their associated risks, including pneumonia, acute respiratory failure (ARF), and pulmonary embolism (PE). METHODS: The National Inpatient Sample (NIS) database was used for this cross-sectional study. The analysis included patients undergoing THAR based on NIS from 2010 to 2019. Available data include demographic data, diagnostic and procedure codes, total charges, length of stay (LOS), hospital information, insurance information, and discharges. RESULTS: From the NIS database, a total of 112,735 THAR patients in total were extracted. After THAR surgery, there was a 2.62% overall incidence of PPCs. Patients with PPCs after THAR demonstrated increased LOS, total charges, usage of Medicare, and in-hospital mortality. The following variables have been determined as potential risk factors for PPCs: advanced age, pulmonary circulation disorders, fluid and electrolyte disorders, weight loss, congestive heart failure, metastatic cancer, other neurological disorders (encephalopathy, cerebral edema, multiple sclerosis etc.), coagulopathy, paralysis, chronic pulmonary disease, renal failure, acute heart failure, deep vein thrombosis, acute myocardial infarction, peripheral vascular disease, stroke, continuous trauma ventilation, cardiac arrest, blood transfusion, dislocation of joint, and hemorrhage. CONCLUSIONS: Our study revealed a 2.62% incidence of PPCs, with pneumonia, ARF, and PE accounting for 1.24%, 1.31%, and 0.41%, respectively. A multitude of risk factors for PPCs were identified, underscoring the importance of preoperative optimization to mitigate PPCs and enhance postoperative outcomes.

The performance of Khorana risk score for prediction of venous thromboembolism in patients with lung cancer: A retrospective cohort study.

Introduction: Cancer-related venous thromboembolism is one of the leading causes of mortality and morbidity in cancer patients. Lung cancer is the second most common cancer in the world and is closely related to venous thromboembolism. Venous thromboembolism affects survival in patients with cancer and it is important to be able to predict the possibility of thrombosis in patients with cancer. It was aimed to evaluate the predictive performance of the Khorana risk score in patients with lung cancer. Materials and Methods: The medical data of the patients followed up with lung cancer were analyzed retrospectively. Venous thromboembolism events in lung cancer patients were described. The relationship between the Khorana risk score and the risk of venous thromboembolism was investigated using the cumulative incidence function with compared risk models. Result: Eight hundred fourteen lung cancer patients were included in the study. Venous thromboembolism was detected in 79 (9.7%) of the patients. Sixty one (77.2%) of the patients had pulmonary embolism, 15 (19%) had peripheral deep vein thrombosis and three (3.8%) had venous thrombosis of other sites. The cumulative incidences of venous thromboembolism for high and intermediate Khorana risk scores were 10.1% and 9.7%, respectively (p= 0.09). The cumulative incidences of venous thromboembolism at 3, 6, 12, and 24 months were 4.7%, 5.8%, 6.4%, and 9.6% for the high-grade Khorana risk score; 4.6%, 5.7%, 6.3% and 7.8% for the intermediate Khorana risk score (p= 0.11). Conclusions: The Khorana risk score was not found useful in the risk stratification of venous thromboembolism (intermediate or high risk) in patients with lung cancer. New scoring systems are needed to calculate the risk of venous thromboembolism in patients with lung cancer.