Antiphospholipid syndrome (APS) is characterized by arterial and venous thrombosis and(or) morbid pregnancy, accompanied by persistent antiphospholipid antibody (aPL) positivity. However, due to the complex pathogenesis of APS and the large individual differences in the expression of aPL profiles of patients, the problem of APS diagnosis, prognosis judgment and risk assessment may not be solved only from antibody level. It is necessary to use new technologies and multiple dimensions to explore novel APS biomarkers. The application of next generation sequencing (NGS) technology in diseases with high incidence of somatic mutations, such as genetic diseases and tumors, has been very mature. Thus, gradually understanding the research and application progress of APS by NGS technology from genome, transcriptome, epigenome and other aspects is meaningful. This article reviews the related research of NGS technology in APS, and provide more reference for the deep understanding of the APS-related screening markers and disease pathogenesis.
Female ; Pregnancy ; Humans ; Antiphospholipid Syndrome/diagnosis* ; Thrombosis/complications* ; Antibodies, Antiphospholipid ; Biomarkers ; High-Throughput Nucleotide Sequencing

BACKGROUND: In light of the significant clinical benefits of antibody-drug conjugates in clinical trials, the human epidermal growth factor receptor 2 (HER2)-low category in breast cancers has gained increasing attention. Therefore, we studied the clinicopathological characteristics of Chinese patients with hormone receptor (HR)-positive/HER2-low early-stage breast cancer and developed a recurrence risk prediction model. METHODS: Female patients with HR-positive/HER2-low early-stage breast cancer treated in 29 hospitals of the Chinese Society of Breast Surgery (CSBrS) from Jan 2015 to Dec 2016 were enrolled. Their clinicopathological data and prognostic information were collected, and machine learning methods were used to analyze the prognostic factors. RESULTS: In total, 25,096 patients were diagnosed with breast cancer in 29 hospitals of CSBrS from Jan 2015 to Dec 2016, and clinicopathological data for 6486 patients with HER2-low early-stage breast cancer were collected. Among them, 5629 patients (86.79%) were HR-positive. The median follow-up time was 57 months (4, 76 months); the 5-year disease-free survival (DFS) rate was 92.7%, and the 5-year overall survival (OS) rate was 97.7%. In total, 412 cases (7.31%) of metastasis were observed, and 124 (2.20%) patients died. Multivariate Cox regression analysis revealed that T stage, N stage, lymphovascular thrombosis, Ki-67 index, and prognostic stage were associated with recurrence and metastasis ( P <0.05). A recurrence risk prediction model was established using the random forest method and exhibited a sensitivity of 81.1%, specificity of 71.7%, positive predictive value of 74.1%, and negative predictive value of 79.2%. CONCLUSION: Most of patients with HER2-low early-stage breast cancer were HR-positive, and patients had favorable outcome; tumor N stage, lymphovascular thrombosis, Ki-67 index, and tumor prognostic stage were prognostic factors. The HR-positive/HER2-low early-stage breast cancer recurrence prediction model established based on the random forest method has a good reference value for predicting 5-year recurrence events. REGISTRITATION ChiCTR.org.cn, ChiCTR2100046766.
Humans ; Female ; Breast Neoplasms/diagnosis* ; Ki-67 Antigen ; Receptor, ErbB-2 ; Prognosis ; Thrombosis ; Receptors, Progesterone

OBJECTIVE: To explore the predictive value of four items of new thrombus markers combined with conventional coagulation tests for thrombosis in antiphospholipid syndrome. METHODS: A total of 121 antiphospholipid syndrome (APS) patients who hospitalized at Peking University People's Hospital from March 2022 to January 2023 were selected and divided into thrombus group (50 cases) and nonthrombus group (71 cases) according to whether thrombosis occurred. The differences of laboratory characteristics including antiphospholipid antibodies were compared between the thrombotic and non-thrombotic groups. Chemiluminescent immunoassay was used to detect thrombomodulin (TM), thrombin-antithrombin complex (TAT), Plasmin-α2 plasmin inhibitor complex (PIC), and tissue plasminogen activator inhibitor complex (t-PAIC) in plasma from venous. The independent risk factors of thrombosis in patients with APS were determined using binary Logistic regression. Receiver operating characteristic (ROC) curve analysis was applied to evaluate the efficacy of each index on the prediction of thrombosis. RESULTS: Compared with the patients without thrombosis, the patients with thrombosis were older [49 (32, 64) years vs. 36 (32, 39) years, P < 0.05]. The percentages of male, smoking, hypertension, and global antiphospholipid syndrome score (GAPSS)≥10 in the patients with thrombosis were significantly higher than those in the patients without thrombosis (P < 0.05). The positive rates of anticardiolipin antibody (aCL) and lupus anticoagulant (LA) in the thrombotic group were significantly higher than those in the non-thrombotic group (P < 0.05), and the levels of prothrombin time, activated partial thromboplastin time, fibrinogen, fibrin degradation product in the thrombotic group were significantly higher than those in the non-thrombotic group (P < 0.05).Among the thrombosis group, venous thrombosis accounted for 19 (38.00%), including deep vein thrombosis (16, 84.21%) and pulmonary embolism accounted (5, 26.32%); Arterial thrombosis accounted for 35 (70.00%), including myocardial infarction (6, 17.14%) cerebral infarction (30, 85.71%). The patients in the thrombotic group had significantly greater TM levels than those in the non-thrombotic group (P < 0.05).There were no significant dif-ferences between the two groups in TAT (Z=-1.420, P=0.156), PIC (Z=-0.064, P=0.949), and t-PAIC (Z=-1.487, P=0.137). Univariate and binary Logistic regression analysis of relevant variables showed that advanced age [OR=1.126, P=0.002], elevated TM [OR=1.325, P=0.048], prolonged prothrombin time (PT) [OR=4.127, P=0.008] were independent risk factors for thrombosis in the patients with APS. ROC curve analysis of the above three independent risk factors showed that the combined detection of age, PT and TM had the highest Yoden index (0.727) and sensitivity (83.0%), with a specificity of 89.7%. CONCLUSION TAT, PIC, TM, and t-PAIC may reflect thrombus formation from the coagulation system, fibrinolysis system, and endothelial system. The combined of age TM and PT is superior to the application of a single marker, which has diagnostic value for the early identification of APS thrombosis.
Humans ; Male ; Antiphospholipid Syndrome/diagnosis* ; Tissue Plasminogen Activator ; Thrombosis/etiology* ; Antibodies, Antiphospholipid/analysis* ; Blood Coagulation Tests/adverse effects*

Renal artery thrombosis can cause acute occlusion of unilateral or bilateral renal arteries,and kidney failure would be induced if it is not diagnosed and treated in time.Therefore,rapid and correct treatment is especially important for renal artery thrombosis.Due to the lack of specificity of clinical manifestations,this disease in commonly misdiagnosed or missed and thus has a low early diagnosis rate.Here we report a case of acute renal artery thrombosis to improve the diagnosis and treatment.
Acute Disease ; Diagnostic Errors/adverse effects* ; Humans ; Renal Artery ; Renal Artery Obstruction/diagnosis* ; Thrombosis/etiology*

Humans ; Eosinophilia/diagnosis* ; Thrombosis/etiology* ; Heart Diseases/complications*

Adult ; COVID-19/diagnosis* ; Humans ; Intracranial Thrombosis/virology* ; Male ; Severity of Illness Index ; Venous Thrombosis/virology*

Myeloperoxidase antineutrophil cytoplasmic antibody (MPO-ANCA) associated vasculitis is an autoimmune disease usually with severe multiple dysfunction syndrome, especially prominent acute renal failure. A 65-year-old woman was admitted with progressive dyspnoea for six months and fever, sputum with blood, pain of the lower extremities and intermittent claudication for two days, indicating multiple organ involvement (respiratory system, blood vessels). The renal involvement was relatively mild, presenting with microscopic haematuria. The chest computed tomography demonstrated multiple pulmonary embolisms. Ultrasound and computed tomography angiography for the lower extremity vessels showed venous and arterial thrombosis. Exclusion of other diseases that can cause multiple organ damage and thrombosis, the positive perinuclear ANCA and MPO-ANCA strongly support the diagnosis of MPO-ANAC-associated vasculitis. The patient's physical condition has been greatly improved by treatment with corticosteroids and anticoagulation.
Aged ; Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/diagnosis* ; Female ; Humans ; Lower Extremity/diagnostic imaging* ; Peroxidase ; Pulmonary Embolism/diagnostic imaging* ; Thrombosis

OBJECTIVE: To find out whether levels of fibrin degradation products (FDP) and D-dimer are increased in breast cancer-related lymphedema (BCRL) as in many vascular diseases. FDP and D-dimer have been used in blood tests to help differentiate deep vein thrombosis in the diagnosis of lymphedema. Levels of FDP and D-dimer are often elevated in patients with BCRL. METHODS: Patients with BCRL (group I), non-lymphedema after breast cancer treatment (group II), and deep venous thrombosis (group III) from January 2012 to December 2016 were enrolled. Levels of FDP and D-dimer were measured in all groups and compared among groups. RESULTS: Mean values of FDP and D-dimer of group I were 5.614±12.387 and 1.179±2.408 μg/μL, respectively. These were significantly higher than their upper normal limits set in our institution. Levels of FDP or D-dimer were not significantly different between group I and group II. However, values of FDP and D-dimer in group III were significantly higher than those in group I. CONCLUSION: Values of FDP and D-dimer were much higher in patients with thrombotic disease than those in patients with lymphedema. Thus, FDP and D-dimer can be used to differentiate between DVT and lymphedema. However, elevated levels of FDP or D-dimer cannot indicate the occurrence of lymphedema.
Breast Neoplasms ; Breast ; Diagnosis ; Fibrin Fibrinogen Degradation Products ; Fibrin ; Hematologic Tests ; Humans ; Lymphedema ; Vascular Diseases ; Venous Thrombosis

Ovarian vein thrombosis (OVT) is a rare disease with complications that can be life-threatening. An ovarian vein thrombus in a gestational trophoblastic neoplasia (GTN) is an extremely rare condition that has not been previously reported in the literature. We report the case of a 23-year-old woman who presented with symptoms of amenorrhea for 15 weeks and 6 days along with intermittent lower abdominal pain. She was diagnosed with a hydatidiform mole, and a metastatic workup was scheduled. Abdominal computed tomography showed a right ovarian vein thrombus. She received methotrexate chemotherapy combined with oral anticoagulants. Complete radiological remission was obtained. During the 12-month follow-up period, no disease progression or recurrence was noted. Early recognition and detection of the condition are of the utmost importance. The differential diagnosis of OVT must be considered when there is unexplained abdominal pain, fever, and leukocytosis during the diagnosis and treatment of GTN. A high level of suspicion is required for prompt diagnosis of OVT.
Abdominal Pain ; Amenorrhea ; Anticoagulants ; Diagnosis ; Diagnosis, Differential ; Disease Progression ; Drug Therapy ; Female ; Fever ; Follow-Up Studies ; Gestational Trophoblastic Disease ; Humans ; Hydatidiform Mole ; Leukocytosis ; Methotrexate ; Pregnancy ; Rare Diseases ; Recurrence ; Thrombosis ; Veins ; Venous Thrombosis ; Young Adult

Spontaneous regression of tumors is an extremely rare event in hepatocellular carcinoma (HCC) with only a few reports available. With the accumulation of clinical information and tumor immunogenetics, several mechanisms for the cystic changes of HCC have been suggested, including arterial thrombosis, inflammation, and rapid tumor growth. This paper reports an uncommon case of the partial regression of HCC, which was initially misdiagnosed as a mucinous cystic neoplasm of the liver due to the unusual radiologic findings. A 78-year-old female with the hepatitis B virus and liver cirrhosis presented with an approximately 5 cm-sized cystic mass of the liver. From the radiologic evidence of a papillary-like projection from the cyst wall toward the inner side, the initial impression was a mucinous cystic neoplasm of the liver. The patient underwent a surgical resection and finally, cystic degeneration of HCC, in which approximately 80% necrosis was noted. This case suggests that if a cystic neoplasm of liver appears in a patient with a high risk of HCC on a hepatobiliary imaging study, it is prudent to consider the cystic degeneration of HCC in a differential diagnosis.
Aged ; Carcinoma, Hepatocellular ; Diagnosis, Differential ; Diagnostic Errors ; Female ; Hepatitis B virus ; Humans ; Immunogenetics ; Inflammation ; Liver ; Liver Cirrhosis ; Liver Neoplasms ; Magnetic Resonance Imaging ; Mucins ; Necrosis ; Thrombosis