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World J Clin Cases. Jun 16, 2017; 5(6): 191-202
Published online Jun 16, 2017. doi: 10.12998/wjcc.v5.i6.191
Table 1 Antinuclear antibodies associated with connective tissue diseases[
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Antinuclear antibodies Native Anti-DNA SLE Anti-histone Drug-induced SLE/SLE/RA/juvenile chronic arthritis Anti-RNP Mixed connective-tissue disease/SLE Anti Sm SLE Anti-Ro/SS-A Sjögren syndrome/SLE/neonatal lupus Subacute cutaneous SLE/SLE related to component deficiency Anti-La/SS-B Sjögren syndrome/SLE Anti-Scl-70 Diffuse scleroderma Anticentromere Scleroderma (CREST syndrome) Anti-Jo1 Polymyositis with interstitial pulmonary disease Antinucleolar Scleroderma
Table 2 Hematologic laboratory parameters that contraindicate thrombolysis
Platelet count < 100000 Glycaemia < 50 and/or > 400 mg/dL Severe liver failure Oral anticoagulants with INR > 1.7 Heparin treatment and ATTP > 1.5 Analytical parameters suspicious of acute pancreatitis
Table 3 Classification for genetic disorders associated with ischemic stroke[
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Coagulation related genes Genetic pattern Inheritance Gene Congenital deficiencies of clotting factors Antithrombin III Monogenic AD 1q23-25 Protein C Monogenic AD/AR 2q13-14 Protein S Monogenic AD 3p11.1-q11.2 Heparin cofactor II Monogenic AD 22q11 Factor VII Monogenic AR 13q34 Factor XII Monogenic AR 5q33-ter Elevated factor VIII Monogenic ? Xq28 Plasminogen Monogenic AD 6p26 Plasminogen activators Monogenic AD 8p12 Polymorphism of clotting factors Factor V leiden (G1619A) Polymorphism Mutation increases risk 1q23 Prothrombin G20210A Polymorphism Mutation increases risk 11p11q12 Sickle-cell disease Monogenic AR Mutation A→T, Glu6Val in beta chain of hemoglobin 11p15.5 Connective tissue disorders Ehlers-Danlos type IV syndrome Monogenic (genetic heterogeneity) AD Mutations Collagen gene type III (COL3·A1) 2q31 Marfan syndrome Polygenic AD Gene fibrillin-1 15q21.1 AD 3p24.2-p25 Pseudoxanthoma elasticum Polygenic AR & AD 16p13.1? Neurofibromatosis type I Monogenic (genetic heterogeneity) AD 17q11.2 Tuberous sclerosis Polygenic AD TSC1 9q34 AD TSC2 16p13 AD TSC3 and TSC4 ? Vasculopathies Fibromuscular dysplasia Polygenic? AD? ? Moya-moya disease Polygenic AD/AR? 3p24.2-p26 CADASIL Monogenic AD/AR? 17q25 AD Notch3, 19p12 Metabolic diseases Homocystinuria Monogenic (genetic heterogeneity) AR More frequent Cystathionine-beta-synthase 21q22.3 Methylenetetrahydrofolate reductase Monogenic AR 1p36.3 Fabry disease Monogenic X-link R GLA Xq21.3-22 MELAS mitochondrial Genes and diabetes mellitus, arterial hypertension, dyslipidemia Variable (genetic heterogeneity) Genes and myocardiopathy, myxoma and familial arrhythmia Variable (genetic heterogeneity)
Table 4 Classification for genetic disorders associated with hemorrhagic stroke[
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Coagulation Genetic pattern Inheritance Gene Congenital deficiencies of clotting factors Factor VIII Monogenic X-link R Xq28 Factor IX Monogenic X-link R Xq27.1-q27.2 Factor XIII Monogenic AR 6p25-p24 Factor VII Monogenic AR 13q34 Factor X Monogenic AR 3q34 Factor XI Monogenic AR 4q35 Afibrinogenemia Monogenic AR 4q28 Polymorphism of clotting factors 1q23 Factor V Leiden (G1619A) Polymorphism Factor XIII Val34Leu Polymorphism 6p25-p24 Factor XIII Tyr204Phe Polymorphism 6p25-p24 Factor XIII Pro564Leu Polymorphism 6p25-p24 Factor VII-323Del/Ins Polymorphism 13q34 PAI-I 4G/5G Polymorphism 7q21.3-q22 Platelet disorders Thrombocytopenia-absent radius Monogenic AR ? Wiskott-Aldrich syndrome Monogenic X-link R Xp11.23-p11.22 Bernard-Soulier syndrome Monogenic AD 22p11.2-17pter-p12 Glanzmann thrombasthenia Monogenic AR 17q21.32 Storage pool deficiency Genetic heterogeneity Sickle-cell disease Monogenic AR Mutation A→T, Glu6Val in beta chain of hemoglobin 11p15.5 Vascular malformations Multiple cavernomatosis Polygenic CCM1 AD 7q11.2-q21 CCM2 AD 7p15-13 CCM3 AD 3q25.2-27 Arteriovenous malformations ? ? ? Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber) Polygenic THH type 1 AD Endoglin gene, 9q THH type 2 AD Activin receptor-likekinase, 12q Von Hippel-Lindau disease Monogenic AD 3p26-p25 Bannayan-Zonana syndrome Monogenic AD 10q23.3 Familial venous malformations Monogenic AD Mutation gene Tie-2, 9p Cerebral aneurysms and SAH Polygenic ? Ligament 5q22-q31 Ligament 7q11 Ligament 14q22 Alpha-1 antitrypsin Polymorphism Alleles Z and S, 14q32.1 Endoglin gene Polymorphism Intron insertion 7, 9q MMP-9 genePolymorphism -736 (CA)23 9q34.1 Connective tissue disorders Ehlers-Danlos type IV syndrome Monogenic (genetic heterogeneity) AD Mutations Collagen gene type III (COL3·A1) 2q31 Marfan syndrome Polygenic AD Gene fibrillin-1 15q21.1 Polygenic AD 3p24.2-p25 Polycystic kidney disease ADPKD 1 AD 16p13.3 ADPKD 2 AD 4q13-23 ADPKD 3 AD ? ARPKD AR 6p21.1-p12 Pseudoxanthoma elasticum Polygenic AR & AD 16p13.1? Neurofibromatosis type I Monogenic (genetic heterogeneity) AD 17q11.2 Tuberous sclerosis Polygenic AD TSC1 9q34 AD TSC2 16p13 AD TSC3 and TSC4? Vasculopathies Fibromuscular dysplasia Polygenic? AD? ? Moya-moya disease Polygenic AD/AR? 3p24.2-p26 AD/AR? 17q25 CADASIL Monogenic AD Notch3, 19p12 Metabolic disorders Fabry disease Monogenic X-link R GLA Xq21.3-22 MELAS mitochondrial Amyloidosis related genes Hereditary cerebral hemorrhage with amyloidosis Dutch type Monogenic (genetic heterogeneity) AD Mutations amyloid-beta precursos protein, 21q21 Icelandic type Monogenic AD Substitution Leu68 → GlnCystatin C gene, 20p11.2 Cerebral amyloid angiopathy ? ? APOE, alleles E2, E4 19q13.2 Transtiretine gene Monogenic AD 18q11.2-q12.1 Genes and HTA Polygenic