1.Application progress of high-throughput sequencing in antiphospholipid syndrome.
Qi LIU ; Shuo YANG ; Li Yan CUI
Chinese Journal of Preventive Medicine 2023;57(5):766-770
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
3.A Case of Multiple Cranial Nerve Palsies as the Initial Ophthalmic Presentation of Antiphospholipid Syndrome.
Sun Young SHIN ; Jeong Min LEE
Korean Journal of Ophthalmology 2006;20(1):76-78
PURPOSE: To report a case of third, fourth, and six cranial nerve palsies with antiphospholipid syndrome (APS). METHODS: Medical records of a 16 year old female diagnosed with idiopathic intracranial hypertension (IIH) in primary APS were reviewed. RESULTS: A 16 year old female presented with headache and diplopia. Ocular examinations revealed marked bilateral disc edema. She was unable to depress, adduct, and abduct in left eye and had limited abduction in the right eye. Cerebrospinal fluid had a normal composition and a pressure of 400 mmH2O. Lupus anticoagulant and IgG anticardiolipin antibody were positive. There was no clinical evidence of other autoimmune disease. Brain magnetic resonance (MR) imaging, MR angiography, and conventional angiogram with venous phase were normal. She was diagnosed with bilateral sixth, and left third and fourth cranial nerve palsies secondary to idiopathic intracranial hypertension in primary APS. CONCLUSIONS: To our knowledge this is the first reported case of concurrent third, fourth, and sixth cranial nerve palsies in a patient with primary APS.
Trochlear Nerve Diseases/diagnosis/*etiology
;
Oculomotor Nerve Diseases/diagnosis/*etiology
;
Humans
;
Follow-Up Studies
;
Female
;
Diagnosis, Differential
;
Antiphospholipid Syndrome/*complications/diagnosis
;
Adolescent
;
Abducens Nerve Diseases/diagnosis/*etiology
4.A Case of Acute Pancreatitis and Splenic Infarction Associated with Antiphospholipid Syndrome.
Kyung Hyun KOH ; Chang Joon KANG ; Dong Hoon KIM ; Yong Won CHOI ; Jae Chul HWANG ; Byung Moo YOO ; Jin Hong KIM
The Korean Journal of Gastroenterology 2009;53(1):57-59
There are various causes of splenic infarction. Antiphospholipid antibody is associated with numerous thromboembolic phenomena. We report a case of young male who presented with acute abdominal pain and was diagnosed as a case of splenic infarction and acute pancreatitis with antiphospholid syndrome. He was positive for anticardiolipin antibody, showed splenic infarction on abdominal CT scan. The patient's clinical, laboratory and imaging finding were consistent with splenic infarction and acute pancreatitis associated with antiphospholipid syndrome.
Acute Disease
;
Adult
;
Antiphospholipid Syndrome/*complications/diagnosis
;
Humans
;
Male
;
Pancreatitis/*diagnosis/etiology
;
Splenic Infarction/*diagnosis/etiology/radiography
;
Tomography, X-Ray Computed
6.Takayasu arteritis and antiphospholipid antibody syndrome in an elderly woman.
Hee Jeong LEE ; Jae Pil HWANG ; Hyun Sook KIM
The Korean Journal of Internal Medicine 2015;30(6):934-937
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
7.Angioedema and systemic lupus erythematosus--a complementary association?
Manjari LAHIRI ; Anita Y N LIM
Annals of the Academy of Medicine, Singapore 2007;36(2):142-145
INTRODUCTIONWe report angioedema as a rare presentation leading to a diagnosis of systemic lupus erythematosus (SLE).
CLINICAL PICTUREA diagnosis of angioedema was delayed in a patient presenting with limb and facial swelling until she developed acute upper airway compromise. After excluding allergic and hereditary angioedema, acquired angioedema (AAE) was suspected, possibly precipitated by respiratory tract infection. Associated clinical and laboratory features led to a diagnosis of SLE.
TREATMENTManagement proved challenging and included high dose steroids and immunosuppressants.
OUTCOMEThe patient responded to treatment and remains in remission without recurrence of the angioedema.
CONCLUSIONAAE occurs due to the acquired deficiency of inhibitor of C1 component of complement (C1 INH). Lymphoproliferative disorders and anti-C1 INH antibodies are well-described associations. However, one should also consider the possibility of SLE.
Angioedema ; blood ; etiology ; physiopathology ; therapy ; Antiphospholipid Syndrome ; diagnosis ; etiology ; Brain ; pathology ; Complement C1 Inactivator Proteins ; analysis ; deficiency ; Female ; Humans ; Lupus Erythematosus, Systemic ; complications ; diagnosis ; etiology ; Magnetic Resonance Imaging ; Middle Aged ; Respiration, Artificial ; Respiratory Insufficiency ; etiology ; therapy
8.Clinical significance of antiphospholipid antibody in pediatric patients and review of literature.
Hui-Jie XIAO ; Ji-Yun YANG ; Tian-Ji GAO ; Jian-Ping HUANG ; Yong YAO ; Yan ZHANG
Chinese Journal of Pediatrics 2004;42(8):571-573
OBJECTIVEAntiphospholipid antibody (APL) is a particularly important laboratory diagnostic criterion for antiphospholipid syndrome (APS). The significances of positive APL in childhood are seldom reported nor fully understood. The purpose of this study was to analyze 13 cases with positive APL seen in our hospital and to study the relationship between the positive rates of APL and various clinical diseases especially systemic lupus erythematosus (SLE) in order to improve the clinical diagnoses and treatment level of APS in children.
METHODSThe clinical data collected from 2000 to 2002 of 13 hospitalized children with positive APL were retrospectively evaluated. Enzyme linked immunosorbent assay (ELISA) and indirect immunofluorescence technique were used respectively to detect APL and antineutrophil cytoplasmic autoantibodies (ANCA) of sera from those children. Other various indexes were also detected according to different characteristics of different diseases.
RESULTSEight cases had SLE; 2 had acute post-streptococcal infections. The other 3 cases did not show any evidences of primary diseases; they probably had primary APS. SLE was the most common primary diseases to cause development of APL and the cases with SLE showed more severe cutaneous vasculitis than SLE patients who were negative for APL. There was no significant relationship between the positive rates of APL and that of ANCA. Eight APL positive cases complicated with thrombocytopenia and bleeding were treated with high dosage of immunoglobulin [400 mg/(kg.d), for 3 - 5 d] intravenously; the clinical conditions of these cases were ameliorated soon. While the 5 cases who had thrombotic vasculitis and thromboembolism were treated with anticoagulant and antithrombotic therapy with low molecular weight heparin [50 - 100 U/(kg.d)], which led to good clinical effects.
CONCLUSIONSThe clinical manifestations of children positive for APL were somehow different from those of adults. Positive APL itself may be nonspecific, it can occur from different causes of diseases. APL detection may be useful to suggest anticoagulant and/or antithrombosis therapy. Treatments for APS should be variable according to different causes and severity of diseases, in the cases of thrombocytopenia and bleeding, high dose intravenous immunoglobulin should be given as soon as possible, while in the cases of thrombotic vasculitis and thromboembolism, anticoagulant and antithrombotic therapy should be given soon.
Adult ; Antibodies, Antineutrophil Cytoplasmic ; blood ; Antibodies, Antiphospholipid ; blood ; immunology ; Anticoagulants ; therapeutic use ; Antiphospholipid Syndrome ; blood ; complications ; diagnosis ; therapy ; Child ; Fibrinolytic Agents ; therapeutic use ; Hemorrhage ; etiology ; therapy ; Humans ; Immunoglobulins, Intravenous ; therapeutic use ; Lupus Erythematosus, Systemic ; immunology ; Streptococcal Infections ; immunology ; Thrombocytopenia ; etiology ; therapy ; Thromboembolism ; drug therapy ; etiology ; Thrombosis ; drug therapy ; etiology ; Vasculitis ; drug therapy ; etiology
9.Case reports of transient loss of vision and systemic lupus erythematosus.
Annals of the Academy of Medicine, Singapore 2007;36(2):146-149
INTRODUCTIONNeuropsychiatric manifestations can occur in up to two-thirds of patients with systemic lupus erythematosus (SLE). The presentations as well as the underlying immunopathogenic mechanisms can be heterogeneous and therefore have an enormous impact on therapeutic options.
CLINICAL PICTUREWe describe 2 patients who presented similarly with acute onset binocular reversible visual loss. The first patient had anti-phospholipid syndrome and optic neuritis, while the second patient suffered from posterior reversible leukoencephalopathy syndrome.
TREATMENTPatient one was treated with anti-coagulation and immunosuppression while the second patient required the withdrawal of immunosuppression and supportive therapy.
OUTCOMEBoth patients responded favourably and had complete visual recovery.
CONCLUSIONSDifferent management strategies have to be employed for similar presentations having different aetiologies, underscoring the need for constant clinical vigilance.
Adult ; Antiphospholipid Syndrome ; complications ; etiology ; Brain Diseases ; etiology ; immunology ; Epilepsy, Tonic-Clonic ; etiology ; Female ; Humans ; Lupus Erythematosus, Systemic ; complications ; microbiology ; physiopathology ; therapy ; Lupus Vasculitis, Central Nervous System ; diagnosis ; Magnetic Resonance Imaging ; Optic Neuritis ; etiology ; Salmonella Infections ; complications ; Salmonella enteritidis ; Time Factors ; Vision Disorders ; etiology ; immunology