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

Antibodies, Antiphospholipid ; Antiphospholipid Syndrome ; Female ; Humans ; Killer Cells, Natural ; Pregnancy ; Pregnancy Complications

BACKGROUND: Antiphospholipid syndrome (APS) is an autoimmune prothrombotic condition with significant morbidity. The objective of this study was to identify additional clinical and epidemiological risks of arterial thrombosis, venous thrombosis, and pregnancy morbidities in a large cohort of persistent antiphospholipid antibodies (aPLs)-positive carriers. METHODS: This was a cross-sectional cohort study of 453 consecutive patients with a documented positive aPL who attended Peking University People's Hospital. Among 453 patients screened, 297 patients had persistent positive aPL. We compared asymptomatic aPL carriers with thrombotic and obstetric APS patients. And the univariate analysis and multivariable logistic regression were used to evaluate the association between different risk factors and APS clinical manifestations. The levels of circulating markers of neutrophil extracellular traps (NETs) (cell-free DNA and citrullinated histone H3 [Cit-H3]) were assessed and compared among aPL-positive carriers with or without autoimmune disease and APS patients. RESULTS: Additional risk factors associated with arterial thrombosis among aPL-positive carriers included: smoking (odds ratio [OR] = 6.137, 95% confidence interval [CI] = 2.408-15.637, P  = 0.0001), hypertension (OR = 2.368, 95% CI = 1.249-4.491, P  = 0.008), and the presence of underlying autoimmune disease (OR = 4.401, 95% CI = 2.387-8.113, P < 0.001). Additional risks associated with venous thrombosis among aPL carriers included: smoking (OR = 4.594, 95% CI = 1.681-12.553, P  = 0.029) and the presence of underlying autoimmune disease (OR = 6.330, 95% CI = 3.355-11.940, P < 0.001). The presence of underlying autoimmune disease (OR = 3.301, 95% CI = 1.407-7.744, P  = 0.006) is the additional risk, which demonstrated a significant association with APS pregnancy morbidity. Higher circulating levels of cell-free DNA and Cit-H3 were observed among APS patients and aPL patients with autoimmune diseases compared with those aPL carriers without underlying autoimmune diseases. Furthermore, control neutrophils that are conditioned with APS patients'sera have more pronounced NET release compared with those treated with aPL carriers'sera without underlying autoimmune diseases. CONCLUSIONS We identified several potential additional risk factors for APS clinical manifestations among a large cohort of Chinese aPL carriers. Our data may help physicians to risk stratify aPL-positive Asian patients.
Antibodies, Antiphospholipid ; Antiphospholipid Syndrome/complications* ; Autoimmune Diseases ; Cell-Free Nucleic Acids ; Cohort Studies ; Cross-Sectional Studies ; Female ; Humans ; Morbidity ; Pregnancy ; Risk Factors ; Thrombosis/etiology*

Cryptococcal meningitis has become the largest cause for the death of infectious diseases in the central nervous system infectious disease worldwide. Most patients with cryptococcal meningitis have AIDS, autoimmune diseases, hematologic malignancies, and some other relevant diseases. It is mainly caused by infection with
Antiphospholipid Syndrome/complications* ; Cryptococcus neoformans ; Female ; HIV Infections ; Humans ; Meningitis, Cryptococcal/complications* ; Middle Aged ; Stroke

Recurrent spontaneous abortion is one of the common complications in women of childbearing age during pregnancy. The immune factor accounts for a large proportion of many causes. Antiphospholipid antibody syndrome is the most common type of acquired thrombophilia disease. Autoimmune diseases that cause thrombosis and obstetric complications under the action of antibodies are also the most common type of immune-related recurrent abortion. At present, there is no unified opinion on the treatment of this disease, especially the treatment of immunoglobulins and other drugs like glucocorticoid. Here we reviewed the progress of diagnosis and treatment of antiphospholipid antibody-related recurrent abortions and retrospectively analyzed and summarized the drug regimens and pregnancy outcomes of this disease with pregnancy patients in our hospital. A total of 75 patients were included. According to their clinical manifestations and laboratory results, these patients were basically divided into two categories: classical antiphospholipid syndrome and non-classical antiphospholipid syndrome. The latter was further divided into serum-negative antiphospholipid syndrome and antiphospholipid antibody-related recurrent abortion patients based on their clinical manifestations and antiphospholipid antibody results. The patients were divided into four categories: aspirin + hydroxychloroquine, aspirin + low molecular weight heparin, aspirin + low molecular weight heparin + hydroxychloroquine, aspirin + hydroxychloroquine + low molecular weight heparin + low dose glucocorticoids. Among them, aspirin + hydroxychloroquine + low molecular weight heparin + low dose glucocorticoid treatment regimen was most commonly used. Most of the patients who received the above different treatment regimens achieved full-term infants, and a small number of patients had adverse pregnancy outcomes, such as premature delivery, placental abruption, eclampsia, and fetal malformation. And adverse pregnancy outcomes also occurred in this group. It might be related to the severity of the disease and the potential adverse effects of maternal fetal. However, further statistical analysis is needed for the risk factors affecting the pregnancy outcome of this part of patients.
Abortion, Habitual ; Abortion, Spontaneous/etiology* ; Antibodies, Antiphospholipid ; Antiphospholipid Syndrome/drug therapy* ; Aspirin/therapeutic use* ; Female ; Fibrinolytic Agents/therapeutic use* ; Heparin, Low-Molecular-Weight/therapeutic use* ; Humans ; Hydroxychloroquine/therapeutic use* ; Infant, Newborn ; Pharmaceutical Preparations ; Pregnancy ; Pregnancy Complications ; Pregnancy Outcome ; Retrospective Studies

BACKGROUNDThe management of patients with recurrent miscarriage (RM) and antiphospholipid antibody syndrome (APS) includes prolonged treatment with heparin and aspirin, starting from the confirmation of pregnancy and continuing until 6 weeks after birth. This study was conducted to determine the relationship between changes in antiphospholipid antibody titers and clinical outcomes. The effect of a shortened treatment regimen was also evaluated.

METHODSA prospective study of 123 patients with RM and APS between March 2012 and May 2014 was conducted. Patients were pretreated with a low dose of prednisone plus aspirin before pregnancy, and heparin was added after conception. The levels of antiphospholipid antibodies and pregnancy outcomes were evaluated.

RESULTSAll patients were positive for anti-β2-glycoprotein 1 (anti-β2-GP1) IgM. After prepregnancy treatment with low-dose prednisone plus aspirin, 99 of 123 patients became pregnant, and 87 of those pregnancies resulted in successful live births, while 12 resulted in miscarriage, showing a success rate of 87.9%. In the live birth group, levels of anti-β2-GP1 were 56.8 ± 49.0 RU/ml before the pretreatment regimen, 32.1 ± 26.0 RU/ml after 2 months of pretreatment, and 24.1 ± 23.1 RU/ml during early pregnancy (P < 0.05). In the miscarriage group, antiphospholipid antibody titers were 52.8 ± 30.7 RU/ml before pretreatment, 38.5 ± 34.2 RU/ml after pretreatment, and 33.9 ± 24.7 RU/ml during early pregnancy; the decrease in antiphospholipid antibodies was lower in the miscarriage group than in the live birth group (P < 0.05). Of the 24 infertile patients, the average antibody titer did not decline after pretreatment (P = 0.802).

CONCLUSIONSAnti-β2-GP1 IgM was the predominant form of antibody in patients with RM and APS. The decreases in antiphospholipid antibody titers correlated with better pregnancy outcomes. The shorter treatment regimen was effective and economical.

Abortion, Habitual ; immunology ; prevention & control ; Adult ; Antibodies, Antiphospholipid ; immunology ; Anticoagulants ; therapeutic use ; Antiphospholipid Syndrome ; drug therapy ; immunology ; Aspirin ; therapeutic use ; Female ; Heparin ; therapeutic use ; Humans ; Live Birth ; Prednisone ; therapeutic use ; Pregnancy ; Pregnancy Complications ; prevention & control ; Pregnancy Outcome ; Prospective Studies

Antiphospholipid Syndrome ; complications ; Budd-Chiari Syndrome ; complications ; Humans

No abstract available.
Aged ; Antibodies, Antiphospholipid/blood ; Anticoagulants/therapeutic use ; Antiphospholipid Syndrome/blood/*complications/diagnosis/drug therapy ; Biomarkers/blood ; Female ; Fluorodeoxyglucose F18 ; Glucocorticoids/therapeutic use ; Humans ; Multimodal Imaging/methods ; Positron-Emission Tomography ; Radiopharmaceuticals ; Takayasu Arteritis/*complications/diagnosis/drug therapy ; Tomography, X-Ray Computed ; Treatment Outcome

Antiphospholipid syndrome (APS) refers to a group of clinical symptoms and signs caused by antiphospholipid antibody (aPLA). We reported a rare case of poor outcome of a pregnant woman with APS. The pregnant woman had APS, hemolytic anemia, elevated liver function and low platelet count (HELLP) syndrome, and eclampsia and had a poor outcome from a second pregnancy. She was treated with antispasmodics, sedatives, and anti-hypertensive agents, along with anticoagulant therapy and infusion of immunoglobulin. APS during pregnancy often makes pregnancy even more complex and risky. Obstetricians should carry out anticoagulation treatment throughout the perinatal period.
Abortion, Induced ; adverse effects ; Adult ; Antiphospholipid Syndrome ; complications ; Eclampsia ; etiology ; Female ; HELLP Syndrome ; etiology ; Humans ; Pre-Eclampsia ; physiopathology ; Pregnancy

No abstract available.
Adult ; Antiphospholipid Syndrome/*complications/diagnosis/drug therapy ; Catastrophic Illness ; Coronary Angiography ; Fibrinolytic Agents/therapeutic use ; Humans ; Male ; Multiple Organ Failure/etiology ; Recurrence ; Thrombosis/diagnosis/*etiology/prevention & control