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1.
Medicine (Baltimore) ; 103(10): e37429, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38457560

RESUMO

BACKGROUND: Thrombophilia is a coagulation disorder closely associated with venous thromboembolism. Hereditary antithrombin III (AT III) deficiency is a type of genetic thrombophilia. In China, genetic thrombophilia patients mainly suffer from deficiencies in AT III, protein S, and protein C. Multiple mutations in the serpin family C member 1 (SERPINC1) can affect AT III activity, resulting in thrombosis. CASE PRESENTATION: This case presented a 17-year-old adolescent female who developed lower extremity venous thrombosis and subsequently pulmonary embolism (PE) following a right leg injury. A missense mutation in gene SERPINC1 of c.331 T > C, p.S111P was detected on the patient, resulting in a decreased AT III activity and an elevated risk of thrombosis. The patient received anticoagulation treatment for approximately 5 months. During follow-up, the blood clot gradually dissolved, and there have been no recurrent thrombotic events reported thus far. DISCUSSION: Hereditary AT deficiency can be classified into two types based on the plasma levels of the enzymatic activity and antigen. Type I is a quantitative defect, while Type II is a qualitive defect. Until 2021, 486 SERPINC1 gene mutations have been registered, more than 18% of which are point mutations. The SERPINC1 mutation c.331 T > C in was firstly reported in 2017, which was classified into type I AT III deficiency. CONCLUSION: Hereditary thrombophilia is a coagulation disorder with a high omission diagnostic rate. Minor mutations in the SERPINC1 gene can also lead to hereditary AT III deficiency, which in turn can cause PE. We emphasized the importance of etiological screening for hereditary thrombophilia in venous thromboembolism patients without obvious high-risk factors. Long-term anticoagulation treatment and avoidance of potential thrombosis risk factors are critical for such patients.


Assuntos
Deficiência de Antitrombina III , Embolia Pulmonar , Trombofilia , Trombose , Tromboembolia Venosa , Adolescente , Humanos , Feminino , Deficiência de Antitrombina III/complicações , Deficiência de Antitrombina III/genética , Tromboembolia Venosa/genética , Trombose/genética , Embolia Pulmonar/genética , Anticoagulantes/uso terapêutico
2.
Medicine (Baltimore) ; 103(8): e37194, 2024 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-38394547

RESUMO

RATIONALE: Pulmonary artery sarcoma (PAS) is a rare malignant tumor primarily originating from the pulmonary artery's intima or subintima. Approximately one-third of cases are classified as undifferentiated type. Its clinical manifestations lack specificity, dyspnea is the main symptom but can also present with chest pain, cough, hemoptysis, and other discomforts, making it prone to misdiagnosis as pulmonary embolism (PE). PATIENT CONCERNS: A 50-year-old woman was admitted to the hospital with "dyspnea for more than 3 months, aggravated for 2 days," and computed tomography pulmonary angiography suggesting "bilateral multiple pulmonary embolisms." DIAGNOSES: The patient was initially misdiagnosed as PE, and was later definitively diagnosed as undifferentiated pleomorphic sarcoma of the pulmonary artery by pathologic biopsy. INTERVENTIONS AND OUTCOMES: The patient was initially treated with anticoagulant therapy, but her dyspnea was not relieved. After that, she underwent positron emission computed tomography (PET-CT) and other investigations, which suggested the possibility of PAS, and then she underwent pulmonary endarterectomy to remove the lesion, which relieved her symptoms and was advised to seek further medical attention from the Department of Oncology and Department of Radiotherapy. LESSONS: PAS can be easily misdiagnosed as PE. If a diagnosis of PE is made, but anticoagulation or even thrombolytic therapy proves ineffective, and there is no presence of PE causative factors such as deep vein thrombosis in the lower extremities, or D-dimer levels are not high, one should be cautious and consider the possibility of PAS.


Assuntos
Hipertensão Pulmonar , Neoplasias Pulmonares , Embolia Pulmonar , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Feminino , Pessoa de Meia-Idade , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/patologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Hipertensão Pulmonar/complicações , Embolia Pulmonar/tratamento farmacológico , Neoplasias Pulmonares/patologia , Neoplasias de Tecidos Moles/patologia , Dispneia/etiologia , Dispneia/patologia , Sarcoma/diagnóstico , Sarcoma/terapia , Sarcoma/complicações
3.
Front Cardiovasc Med ; 10: 1182569, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37614942

RESUMO

Background: Minimal change disease (MCD) is a common pathological type of nephrotic syndrome (NS), and is one of the most common causes of NS in children, but is not common in adults. MCD is sensitive to corticosteroid therapy and has a good prognosis, but is prone to relapse. Venous thromboembolism (VTE) is less common in MCD. Case presentation: We report a case of acute pulmonary embolism (PE) with arrhythmia associated with MCD in adults. The hypercoagulable state caused by MCD through multiple systems may be one of the important causes of thrombosis in this patient. In addition to the conventional corticosteroid therapy, he was started on anticoagulation for VTE and PE. His hospital course was complicated by atrial tachyarrhythmias initially controlled by amiodarone but he required readmission due to recurrent atrial flutter. His clinical condition became more stable after radiofrequency ablation. Conclusion: VTE associated with MCD in adults is rare. Treatment of MCD with corticosteroids may be associated with a higher risk of developing blood clots. This type of case is relatively rare and should be paid attention to. The mechanism of VTE in MCD is still a direction worthy of further research.

4.
Front Cardiovasc Med ; 9: 1018462, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36304550

RESUMO

Background: Ulcerative colitis often leads to gastrointestinal bleeding and venous thromboembolism (VTE). At present, there is no clear conclusion about anticoagulant therapy for these patients. Treatment for ulcerative colitis usually includes 5-aminosalicylic acid, corticosteroid, and biologics. Acute ulcerative colitis, usually caused by infection, is usually severe and can be life-threatening. Case presentation: We report the development of VTE in a patient with severe acute ulcerative colitis who experienced gastrointestinal bleeding following hormonal therapy. The patient's indicators suggested that his blood was hypercoagulable and that his prognosis was poor. Conclusion: Patients with ulcerative colitis are prone to form VTE. The use of corticosteroids during treatment increases the risk of thrombus. Anticoagulation strategy for patients with ulcerative colitis after gastrointestinal bleeding is a problem that needs to be discussed.

5.
Front Robot AI ; 8: 702599, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34568436

RESUMO

We reach walking optimality from a very early age by using natural supports, which can be the hands of our parents, chairs, and training wheels, and bootstrap a new knowledge from the recently acquired one. The idea behind bootstrapping is to use the previously acquired knowledge from simpler tasks to accelerate the learning of more complicated ones. In this paper, we propose a scaffolded learning method from an evolutionary perspective, where a biped creature achieves stable and independent bipedal walking while exploiting the natural scaffold of its changing morphology to create a third limb. The novelty of this work is speeding up the learning process with an artificially recreated scaffolded learning. We compare three conditions of scaffolded learning (free, time-constrained, and performance-based scaffolded learning) to reach bipedalism, and we prove that a performance-based scaffold, which is designed by the walking velocity obtained, is the most conducive to bootstrap the learning of bipedal walking. The scope of this work is not to study bipedal locomotion but to investigate the contribution from scaffolded learning to a faster learning process. Beyond a pedagogical experiment, this work presents a powerful tool to accelerate the learning of complex tasks in the Robotics field.

6.
Bioinspir Biomim ; 16(5)2021 08 13.
Artigo em Inglês | MEDLINE | ID: mdl-34289465

RESUMO

In nature, very few animals locomote on two legs. Static bipedalism can be found in four limbed and five limbed animals like dogs, cats, birds, monkeys and kangaroos, but it cannot be seen in hexapods or other multi-limbed animals. In this paper, we present a simulation with a novel perspective on the evolution of static bipedalism, with a virtual creature evolving its body and controllers, and we apply an evolutionary algorithm to explore the locomotion transition from octapods to bipods. We find that the presence of four limbs in the evolutionary trajectory of the creature scaffolds a parametric jump that enables bipedalism, and shows that hexapods, without undergoing such transformation, struggle to evolve into bipeds. An analysis of the transitional parameters points to the role of a shorter femur length in helping maintain the stability of the body, and the tibia length is responsible for improving the forward speed.


Assuntos
Insetos , Locomoção , Animais , Fenômenos Biomecânicos , Aves , Gatos , Simulação por Computador , Cães
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