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3.
J Int Med Res ; 50(1): 3000605211072801, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35023386

RESUMEN

Pulmonary embolism and splenic infarction are rare in patients with polycythemia vera. We herein describe a man in his early 60s whose main symptoms were chest tightness, cough, and sputum expectoration. Antibiotics, bronchodilators, and mucoactive agents did not improve his symptoms. Pulmonary artery computed tomography angiography showed pulmonary embolism, and abdominal computed tomography showed multiple hypodense foci in the spleen. Bone marrow aspiration cytology, biopsy, and genetic testing confirmed polycythemia vera. The patient's symptoms were relieved after treatment with hydroxyurea and rivaroxaban. This case emphasizes that although pulmonary embolism and splenic infarction are relatively rare in patients with polycythemia vera, the possibility of polycythemia vera should be considered in clinical practice.


Asunto(s)
Policitemia Vera , Embolia Pulmonar , Infarto del Bazo , Angiografía , Humanos , Masculino , Policitemia Vera/complicaciones , Policitemia Vera/diagnóstico por imagen , Policitemia Vera/tratamiento farmacológico , Embolia Pulmonar/diagnóstico por imagen , Embolia Pulmonar/tratamiento farmacológico , Infarto del Bazo/diagnóstico por imagen , Infarto del Bazo/etiología , Tomografía Computarizada por Rayos X
4.
Lakartidningen ; 1192022 01 07.
Artículo en Sueco | MEDLINE | ID: mdl-34995356

RESUMEN

Severe Covid-19 has a high mortality rate. Vital organ dysfunction results from pathophysiological self-amplifying loops of innate immunological hyperactivation, cytokine release, complement deposition, endothelial damage, and macro- and microvascular thromboembolism. Resulting alveolar exudation and pulmonary capillary thromboembolism lead to ventilation-perfusion mismatch, considered to be a primary cause of death in severe Covid-19. Therapeutic immunomodulation is believed to be safer and more effective during time periods with decreasing viral exposition and increasing inflammation.


Asunto(s)
COVID-19 , Embolia Pulmonar , Humanos , Inflamación , Pulmón , SARS-CoV-2
5.
Br J Radiol ; 95(1129): 20210699, 2022 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-34538091

RESUMEN

Dual-energy CT (DECT) imaging is a technique that extends the capabilities of CT beyond that of established densitometric evaluations. CT pulmonary angiography (CTPA) performed with dual-energy technique benefits from both the availability of low kVp CT data and also the concurrent ability to quantify iodine enhancement in the lung parenchyma. Parenchymal enhancement, presented as pulmonary perfused blood volume maps, may be considered as a surrogate of pulmonary perfusion. These distinct capabilities have led to new opportunities in the evaluation of pulmonary vascular diseases. Dual-energy CTPA offers the potential for improvements in pulmonary emboli detection, diagnostic confidence, and most notably severity stratification. Furthermore, the appreciated insights of pulmonary vascular physiology conferred by DECT have resulted in increased use for the assessment of pulmonary hypertension, with particular utility in the subset of patients with chronic thromboembolic pulmonary hypertension. With the increasing availability of dual energy-capable CT systems, dual energy CTPA is becoming a standard-of-care protocol for CTPA acquisition in acute PE. Furthermore, qualitative and quantitative pulmonary vascular DECT data heralds promise for the technique as a "one-stop shop" for diagnosis and surveillance assessment in patients with pulmonary hypertension. This review explores the current application, clinical value, and limitations of DECT imaging in acute and chronic pulmonary vascular conditions. It should be noted that certain manufacturers and investigators prefer alternative terms, such as spectral or multi-energy CT imaging. In this review, the term dual energy is utilised, although readers can consider these terms synonymous for purposes of the principles explained.


Asunto(s)
Angiografía por Tomografía Computarizada/métodos , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Vasculares/diagnóstico por imagen , Angiografía por Tomografía Computarizada/instrumentación , Humanos , Hipertensión Pulmonar/diagnóstico por imagen , Circulación Pulmonar , Embolia Pulmonar/diagnóstico por imagen
6.
Clin Imaging ; 81: 33-36, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34598001

RESUMEN

In the U.S., pulmonary embolism (PE) is a common cause of cardiovascular death. Right heart thrombus (RHT) occurs in approximately 4% of patients with PE, and when concurrent is associated with increased 30-day PE-related and all-cause mortality. The consensus on optimal management of acute massive or high-risk PE is unclear, and even less so for concurrent RHT. In this report, we review a successful multidisciplinary coordination of vacuum-assisted thrombectomy (VAT) of a complex pacemaker lead-associated RHT in a patient with concurrent acute PE and significant comorbidities, using the AngioVac system (Vortex Medical, Norwell, MA). VAT is a reasonable treatment option that should be considered particularly for patients who are poor surgical or thrombolytic candidates. Procedural success and patient outcomes can be further optimized through multidisciplinary collaboration such as with the Pulmonary Embolism Response Team (PERT) model.


Asunto(s)
Marcapaso Artificial , Embolia Pulmonar , Trombosis , Ecocardiografía Transesofágica , Humanos , Marcapaso Artificial/efectos adversos , Trombectomía , Trombosis/diagnóstico por imagen , Trombosis/etiología , Trombosis/terapia , Resultado del Tratamiento
7.
Clin Imaging ; 81: 43-45, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34598003

RESUMEN

Superior vena cava (SVC) aneurysms are a rare occurrence. Given the rarity of SVC aneurysms and their propensity to be overlooked or misinterpreted on imaging, it is essential to be familiar with their appearance for accurate diagnosis, and to minimize thromboembolic risk, complications from rupture and mass effect. This report of a case of a massive fusiform SVC aneurysm that presented with pulmonary thrombo-embolism highlights the nuances of making an imaging diagnosis of SVC aneurysm and reviews the reported cases of fusiform SVC aneurysms that were diagnosed beyond childhood.


Asunto(s)
Aneurisma , Embolia Pulmonar , Tromboembolia , Aneurisma/complicaciones , Aneurisma/diagnóstico por imagen , Humanos , Persona de Mediana Edad , Embolia Pulmonar/diagnóstico por imagen , Embolia Pulmonar/etiología , Vena Cava Superior/diagnóstico por imagen
8.
Radiol Clin North Am ; 60(1): 69-82, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34836567

RESUMEN

In contrast with the algorithms and screening criteria available for adults with suspected pulmonary embolism, there is a paucity of guidance on the diagnostic approach for children. The incidence of pulmonary embolism in the pediatric population and young adults is higher than thought, and there is an urgent need for updated guidelines for the imaging approach to diagnosis in the pediatric population. This article presents an up-to-date review of imaging techniques, characteristic radiologic findings, and an evidence-based algorithm for the detection of pediatric pulmonary embolism to improve the care of pediatric patients with suspected pulmonary embolism.


Asunto(s)
Diagnóstico por Imagen/métodos , Embolia Pulmonar/diagnóstico por imagen , Adolescente , Niño , Femenino , Humanos , Masculino , Guías de Práctica Clínica como Asunto , Arteria Pulmonar/diagnóstico por imagen , Sensibilidad y Especificidad
9.
Clin Nurse Spec ; 36(1): 52-61, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34843194

RESUMEN

PURPOSE: This study evaluated clinician adherence to the American College of Physicians Best Practice Advice for diagnosis of pulmonary embolism. DESIGN: A prospective, single-center, descriptive design was utilized. METHODS: A heterogeneous sample of 111 hemodynamically stable adult inpatients with a computed tomography pulmonary angiogram ordered was consented. Electronic medical records were reviewed for demographic and clinical variables to determine adherence. The 6 individual best practice statements and the overall adherence were evaluated by taking the sum of "yes" answers divided by the sample size. RESULTS: Overall adherence was 0%. Partial adherence was observed with clinician-recorded clinical decisions rules and obtaining d-dimer (3.6% [4/111] and 10.2% [9/88], respectively) of low/intermediate probability scorers. Age adjustment of d-dimer was not recorded. Computed tomography pulmonary angiogram was the first diagnostic test in 89.7% (79/88) in low/intermediate probability patients. CONCLUSION: In hemodynamically stable, hospitalized adults, adherence to best practice guidelines for diagnosis of pulmonary embolism was minimal. Clinical utility of the guidelines in hospitalized adults needs further evaluation. Systems problems (eg, lack of standardized orders, age-adjusted d-dimer values, information technology support) likely contributed to poor guideline adherence.


Asunto(s)
Embolia Pulmonar , Adulto , Angiografía , Adhesión a Directriz , Humanos , Estudios Prospectivos , Embolia Pulmonar/diagnóstico por imagen , Tomografía Computarizada por Rayos X
10.
Cardiol Clin ; 40(1): 103-114, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34809911

RESUMEN

Chronic thromboembolic pulmonary hypertension is a distinct form of pulmonary hypertension characterized by the nonresolution of thrombotic material in the pulmonary tree; whenever feasible and safe, first-line treatment should be pulmonary thromboendarterectomy. In patients who are not operative candidates, balloon pulmonary angioplasty (BPA) has emerged as an effective treatment modality that results in improvements in functional class, symptoms, hemodynamics, 6-minute walk distance, and right ventricular and pulmonary artery mechanics. Careful attention to procedural technique and rapid identification and treatment of complications are critical for a successful BPA program.


Asunto(s)
Angioplastia de Balón , Hipertensión Pulmonar , Embolia Pulmonar , Enfermedad Crónica , Endarterectomía , Humanos , Hipertensión Pulmonar/terapia , Arteria Pulmonar , Embolia Pulmonar/complicaciones , Embolia Pulmonar/terapia , Resultado del Tratamiento
11.
Crit Care Nurs Q ; 45(1): 8-12, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34818292

RESUMEN

Innovative catheter-based therapies are increasingly being used for the treatment of patients with submassive pulmonary embolism. These patients may be monitored in the intensive care unit following insertion of specialized pulmonary artery catheters. However, the infusion catheters utilized in catheter-based therapies differ greatly from traditional pulmonary artery catheters designed for hemodynamic monitoring. As such, the critical care team will have to be familiar with the monitoring and management of these novel catheters. Important distinctions between the catheters are illustrated using a clinical case report.


Asunto(s)
Arteria Pulmonar , Embolia Pulmonar , Cateterismo de Swan-Ganz , Catéteres , Humanos , Unidades de Cuidados Intensivos
12.
JAAPA ; 35(1): 21-27, 2022 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-34908560

RESUMEN

ABSTRACT: Chronic thromboembolic pulmonary hypertension (CTEPH) remains significantly underdiagnosed in patients with a history of pulmonary embolism. These patients complain of persistent shortness of breath and present with hypoxemia despite proper anticoagulation. Further investigation reveals evidence of right ventricular dysfunction on echocardiogram, which progresses to right heart failure. CTEPH is associated with a significant increase in patient morbidity and mortality if left untreated. This article offers an approach for the timely recognition of this condition, in addition to suggesting a management protocol with an emphasis on the role of interventional radiology and balloon pulmonary angioplasty.


Asunto(s)
Angioplastia de Balón , Insuficiencia Cardíaca , Hipertensión Pulmonar , Embolia Pulmonar , Enfermedad Crónica , Ecocardiografía , Humanos , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/terapia , Arteria Pulmonar/diagnóstico por imagen , Embolia Pulmonar/complicaciones , Embolia Pulmonar/terapia
13.
Cardiol Clin ; 40(1): 89-101, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34809920

RESUMEN

Chronic thromboembolic pulmonary hypertension is a progressive disease, which may lead to severe right ventricular dysfunction and debilitating symptoms. Pulmonary thromboendarterectomy (PTE) provides the best opportunity for complete resolution of obstructing thromboembolic disease and functional improvement in appropriately selected patients. In this article, the authors review preoperative workup, patient selection, operative technique, postoperative care, and outcomes after PTE.


Asunto(s)
Hipertensión Pulmonar , Embolia Pulmonar , Disfunción Ventricular Derecha , Enfermedad Crónica , Endarterectomía , Humanos , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/cirugía , Embolia Pulmonar/complicaciones , Embolia Pulmonar/cirugía
14.
PLoS One ; 16(12): e0258843, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34962922

RESUMEN

BACKGROUND: Patients with acute pulmonary embolism (PE) exhibit a wide spectrum of clinical and laboratory features when presenting to hospital and pathophysiologic mechanisms differentiating low-risk and high-risk PE are poorly understood. OBJECTIVES: To investigate the prognostic value of clinical, laboratory and radiological information that is available within routine tests undertaken for patients with acute PE. METHODS: Electronic patient records (EPR) of patients who underwent Computed Tomography Pulmonary Angiogram (CTPA) scan for the investigation of acute PE during 6-month period (01.01.2016-30.06.2016) were examined. Data was gathered from EPR for patients that met inclusion criteria and all CTPA scans were re-evaluated. Biochemical thresholds of low-grade and high-grade inflammation, serum CRP >10mg/L and >150mg/L and serum albumin concentrations <35g/L and <25 g/L, were combined in the Glasgow Prognostic Score (GPS) and peri-operative Glasgow Prognostic Score (poGPS) respectively. Neutrophil Lymphocyte ratio (NLR) was also calculated. Pulmonary Embolus Severity Index score was calculated. RESULTS: Of the total CTPA reports (n = 2129) examined, 245 patients were eligible for inclusion. Of these, 20 (8%) patients had died at 28-days and 43 (18%) at 6-months. Of the 197 non-cancer related presentations, 28-day and 6-month mortality were 3% and 8% respectively. Of the 48 cancer related presentations, 28-day and 6-month mortality were 29% and 58% respectively. On univariate analysis, age ≥65 years (p<0.01), PESI score ≥100(p = <0.001), NLR ≥3(p<0.001) and Coronary Artery Calcification (CAC) score ≥ 6 (p<0.001) were associated with higher 28-day and 6-month mortality. PESI score ≥100 (OR 5.2, 95% CI: 1.1, 24.2, P <0.05), poGPS ≥1 (OR 2.5, 95% CI: 1.2-5.0, P = 0.01) and NLR ≥3 (OR 3.7, 95% CI: 1.0-3.4, P <0.05) remained independently associated with 28-day mortality. On multivariate binary logistic regression analysis of factors associated with 6-month mortality, PESI score ≥100 (OR 6.2, 95% CI: 2.3-17.0, p<0.001) and coronary artery calcification score ≥6 (OR 2.3, 95% CI: 1.1-4.8, p = 0.030) remained independently associated with death at 6-months. When patients who had an underlying cancer diagnosis were excluded from the analysis only GPS≥1 remained independently associated with 6-month mortality (OR 5.0, 95% CI 1.2-22.0, p<0.05). CONCLUSION: PESI score >100, poGPS≥1, NLR ≥3 and CAC score ≥6 were associated with 28-day and 6-month mortality. PESI score ≥100, poGPS≥1 and NLR ≥3 remained independently associated with 28-day mortality. PESI score ≥100 and CAC score ≥6 remained independently associated with 6-month mortality. When patients with underlying cancer were excluded from the analysis, GPS≥1 remained independently associated with 6-month mortality. The role of the systemic inflammatory response (SIR) in determining treatment and prognosis requires further study. Routine reporting of CAC scores in CTPA scans for acute PE may have a role in aiding clinical decision-making regarding treatment and prognosis.


Asunto(s)
Embolia Pulmonar/diagnóstico por imagen , Embolia Pulmonar/mortalidad , Enfermedad Aguda , Anciano , Vasos Coronarios/diagnóstico por imagen , Femenino , Humanos , Inflamación/patología , Linfocitos/patología , Masculino , Persona de Mediana Edad , Neoplasias/mortalidad , Neutrófilos/patología , Pronóstico , Tomografía Computarizada por Rayos X
15.
Georgian Med News ; (320): 126-133, 2021 Nov.
Artículo en Ruso | MEDLINE | ID: mdl-34897058

RESUMEN

Over the past two decades, the world has witnessed severe acute respiratory syndrome CoV (SARS-CoV), an underlying serious diseases, with a high rate of mortality in patients with comorbidities. Taking into account the clinical features of pulmonary edema, septic shock, deep vein thrombosis and pulmonary embolism, it seems that the severe course of COVID-19 can manifest itself in the body as a sympathetic storm and, possibly, can underlie many of the pathological processes that occur with COVID-19. It is the regulation of the RAAS by the adrenergic system may be crucially important in the course of COVID-19. This article outlines the benefits of beta blockers use in patients with COVID-19 based on the results of recent clinical and epidemiological studies. It has been shown that treatment with beta-blockers in this group of patients can potentially prevent the development of the disease at the earliest stages, reducing morbidity and mortality, preventing or reducing the development of pulmonary embolism, acute respiratory distress syndrome, pulmonary edema and complications of septic shock, fatal rhythm disturbances, etc. Of course, the final conclusions are somewhat premature and further research is needed to assess the positive effects of various beta-blockers use in the treatment of COVID-19.


Asunto(s)
COVID-19 , Embolia Pulmonar , Antagonistas Adrenérgicos beta/uso terapéutico , Comorbilidad , Humanos , Embolia Pulmonar/tratamiento farmacológico , SARS-CoV-2
16.
Trials ; 22(1): 957, 2021 Dec 27.
Artículo en Inglés | MEDLINE | ID: mdl-34961562

RESUMEN

BACKGROUND: Management of inoperable chronic thromboembolic pulmonary hypertension (CTEPH) remains a clinical challenge. Currently, riociguat, a soluble guanylate-cyclase stimulator is recommended by international guidelines. More recently, balloon pulmonary angioplasty (BPA) develops as an alternative treatment for inoperable CTEPH. METHOD: This study is a single-center randomized controlled trial. Subjects with inoperable CTEPH are randomized into either a BPA combined with riociguat or riociguat monotherapy group (2:1) and observed for 12 months after initiation of treatment. The primary endpoint is the change in pulmonary vascular resistance from baseline to 12 months after initiation of treatment. The secondary endpoints include 6-min walk distance (6MWD), WHO-FC, NT-proBNP, SF-36, and other hemodynamic parameters. Safety endpoints are analyzed too. DISCUSSION: This study aims to compare the efficacy and safety of BPA combined with riociguat and riociguat monotherapy for inoperable CTEPH. TRIAL REGISTRATION: Chinese Clinical Trial Registry ChiCTR2000032403 . Registered on 27 April 2020.


Asunto(s)
Angioplastia de Balón , Hipertensión Pulmonar , Embolia Pulmonar , Angioplastia de Balón/efectos adversos , Enfermedad Crónica , Humanos , Hipertensión Pulmonar/diagnóstico , Hipertensión Pulmonar/tratamiento farmacológico , Hipertensión Pulmonar/etiología , Embolia Pulmonar/complicaciones , Embolia Pulmonar/diagnóstico , Embolia Pulmonar/tratamiento farmacológico , Pirazoles/efectos adversos , Pirimidinas , Ensayos Clínicos Controlados Aleatorios como Asunto
17.
Tuberk Toraks ; 69(4): 469-476, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34957740

RESUMEN

Introduction: The leading cause of mortality in pulmonary embolism (PE) is hypoxemic respiratory failure. The aim of this study was to compare the efficacy of high-flow nasal cannula (HFNC) and conventional nasal cannula (CNC) oxygen therapy in PE patients with hypoxemia. Materials and Methods: Fifty-eight patients with a PaO2/FIO2 ratio below 300 who were admitted to the emergency department with acute respiratory distress and followed up in our intensive care unit due to PE between March and October 2019 were included in the study. One group (n= 29) received HFNC oxygen therapy and the other group (n= 29) received CNC oxygen therapy. Result: Arterial blood gas analysis showed no significant differences in baseline SpO2 and PaO2 between the HFNC and CNC groups, whereas both values were significantly higher in the HFNC group starting at 1 hour (PaO2: p= .01, p= .001, p= .001; SpO2: p= .009, p= .005, p= .002). Among massive PE patients with contraindications for thrombolytic therapy, there was no significant difference between the HFNC and CNC groups in baseline SpO2, PaO2, or respiratory rate, but those who received HFNC therapy had significant higher SpO2 starting at 15 minutes (p= .004 for all), significantly higher PaO2 starting at 1 hour (p= .01, p= .001, p= .001), and significantly lower respiratory rate starting at 30 minutes (p= .003, p= .001, p= .001, p= .002, p= .002). Conclusions: In patients presenting with PE and hypoxemic respiratory failure, HFNC oxygen therapy was more effective on both vital signs and arterial blood gas parameters compared to conventional oxygen therapy and can be used safely as primary treatment.


Asunto(s)
Ventilación no Invasiva , Embolia Pulmonar , Insuficiencia Respiratoria , Cánula , Humanos , Oxígeno , Embolia Pulmonar/complicaciones , Embolia Pulmonar/terapia , Insuficiencia Respiratoria/terapia
18.
J Prev Med Hyg ; 62(3): E704-E708, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34909498

RESUMEN

Background: Venous thromboembolism (VTE) is a notable but often ignored cause of disability and death. Improved public awareness of the symptoms and risks associated with VTE reduces the burden of disease. Aim: We aimed to determine the awareness of VTE among the general population. Methods: We conducted a population-based study using a pre-tested, pre-validated Ipsos-Reid questionnaire between October 2019 to March 2020. The questionnaire was distributed to consenting adults in the capital cities of Enugu and Ebonyi states of South-Eastern Nigeria to determine their awareness and knowledge of the symptoms and risk factors of VTE. Results: A total of 284 adults participated with a mean age of 32.73 ± 10.33 years and majority (70.8%) had a post-secondary education. While majority were aware of other medical conditions like a heart attack (96.1%), stroke (97.2%), diabetes (98.2%), HIV/AIDS (98.6%), cancer (97.2%) and malaria (98.2), just a few of the subjects were aware of thrombosis (41.5%) and DVT (33.8%). Less than half (42.4%) correctly described DVT as a blood clot in the vein and 13.7% of the respondents knew what PE feels like. A minority of them knew the risk factors of VTE included hospital stay (19.0%), surgery (37.2%), cancer (31.6%), pregnancy (31.6%) and old age (29.6%). Age and gender showed no statistically significant association with awareness of VTE, p value, 0.491 and 0.287, respectively. Conclusion: The awareness of VTE in the general population is low. Public awareness programs should be a public health priority to reduce morbidity and mortality associated with VTE.


Asunto(s)
Embolia Pulmonar , Tromboembolia Venosa , Trombosis de la Vena , Adulto , Humanos , Nigeria , Factores de Riesgo , Tromboembolia Venosa/epidemiología , Adulto Joven
19.
Rev Assoc Med Bras (1992) ; 67(12): 1852-1856, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34909961

RESUMEN

OBJECTIVE: Treatment options for submassive pulmonary thromboembolism cases vary depending on the patient's hemodynamic stability, comorbidities, and bleeding risk. The long-term effect of unfractionated heparin treatment on pulmonary hypertension and mortality is unclear. The aim of this study was to investigate the long-term effect of unfractionated heparin treatment on pulmonary thromboembolism. METHODS: This is a cross-sectional study with 22 patients who were diagnosed with submassive pulmonary thromboembolism and followed up at the outpatient clinic between 2016 and 2020 and received unfractionated heparin treatment. RESULTS: Mean pulmonary artery pressure was 53±13.6 mmHg during hospital admission and 42.7±13.4 mmHg at hospital discharge. There was a statistically significant decrease in d-dimer and pulmonary artery pressure levels before and after treatment (p=0.001). At the end of one year, pulmonary artery pressure was considered high in three patients of this study. CONCLUSION: Our study suggests that unfractionated heparin is safe in the treatment of submassive pulmonary thromboembolism in terms of bleeding risk and reduces pulmonary artery pressure.


Asunto(s)
Heparina , Embolia Pulmonar , Estudios Transversales , Estudios de Seguimiento , Heparina/efectos adversos , Humanos , Inyecciones Subcutáneas , Embolia Pulmonar/tratamiento farmacológico
20.
Zhonghua Jie He He Hu Xi Za Zhi ; 44(12): 1085-1089, 2021 Dec 12.
Artículo en Chino | MEDLINE | ID: mdl-34915622

RESUMEN

Objective: To improve the clinical management of acute pulmonary embolism caused by antithrombin Ⅲ (AT Ⅲ) deficiency through gene sequence analysis of the SERPINC1 gene. Methods: The diagnosis and treatment of a 33-year-old male patient with chest pain was reviewed. All exon sequences and flanking regions of 7 related genes of thrombophilia were subjected to detection by high-throughput next generation sequencing technology. The gene mutation was inquired in the gene database and the pathogenic probability of the mutant gene was predicted by Mutation Taster software. Results: The patient was diagnosed with acute pulmonary embolism (intermediate-low risk), with the ATⅢ activity less than 50%. Anticoagulation with nadroparin calcium combined with warfarin was administrated, but hemoptysis was aggravated, and then the medication was replaced by anticoagulant of rivaroxaban. In the end, the embolus was gradually absorbed. A heterozygous missense mutation of c.1148T>A (p.L383H) in the SERPINC1 gene was detected. The gene database and Mutation Taster confirmed the mutation as a new pathogenic mutation with the pathogenic probability of 0.999 999 851 200 991. Conclusions: C.1148T>A (p.L383H) is a novel pathogenic mutation in SERPINC1 gene that complements and updates the gene mutation spectrum of hereditary AT Ⅲ deficiency. The new oral anticoagulant rivaroxaban may be used as the first-line treatment for these patients.


Asunto(s)
Antitrombina III , Embolia Pulmonar , Adulto , Antitrombina III/genética , Humanos , Masculino , Mutación , Embolia Pulmonar/genética
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