04 June 2012

Antithrombin Deficiency



Venous Thromboembolism
Venous Thromboembolism.ppt

Christmas  Disease
Hemophilia.ppt

PATHOPHYSIOLOGY OF THROMBOSIS
Medtech.ppt

Hypercoagulable States
Thrombosis.ppt

ADAM  Syndrome Androgen Deficiency in the Aging Man Andropause
Norman  Jensen MD MS
ADAM  Syndrome Androgen Deficiency in the Aging Man Andropause.ppt

Fibrinolysis and Thrombophilia
Fibrinolysis and Thrombophilia.ppt

Secondary Hemostasis
Secondary Hemostasis.ppt

Thrombosis:  Principles in Clinical Practice
Matthew  Bunte, MD
Thrombosis:  Principles in Clinical Practice.ppt

Hematology Emergencies
Jack Lazerson, M.D.
HematologyEmergencies.ppt


Dysfibrinogenemia and Thrombosis
Aml Girgis,MD
Dysfibrinogenemia and Thrombosis.ppt

Renal vein thrombosis
Renal vein thrombosis.ppt

Clotting  of Blood
Clotting.ppt

Protein  C and Protein S Deficiency
Paolo  Aquino
Protein  C and Protein S Deficiency.ppt

Hypercoagulable  States: Polycythemia Vera
Chris  Caulfield
Polycythemia Vera .ppt

Indications  for a thrombophilia workup in Obstetrics
Helen H. Kay,  MD
Indications  for a thrombophilia workup in Obstetrics.PPT

Atypical  Wounds 
Robert  S. Kirsner, M.D.. PhD
Atypical  Wounds.ppt
168 Full text articles list

  1. Perioperative management of a parturient with antithrombin deficiency and the role of thromboelastography.
  2. Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation.
  3. Protein S, C and antithrombin deficiency: Association to myocardial infarction and thromboembolism in young.
  4. Antithrombin Krakow II (c.624+1 G > T): a novel mutation leading to type 1 antithrombin deficiency.
  5. Role on antithrombin deficiency and thrombotic risk of the beta glycoform: a post-translational mosaicism for heparin binding mutations.
  6. The infective polymerization of conformationally unstable antithrombin mutants may play a role in the clinical severity of antithrombin deficiency.
  7. Molecular basis of type I antithrombin deficiency in two women with recurrent venous thromboembolism in the first trimester of pregnancy.
  8. Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy.
  9. Argatroban therapy for heparin-induced thrombocytopenia during pregnancy in a woman with hereditary antithrombin deficiency.
  10. Molecular mechanisms of recurrent venous thrombosis in two pedigrees with type I antithrombin deficiency.
  11. Regulatory regions of SERPINC1 gene: identification of the first mutation associated with antithrombin deficiency.
  12. Risk factors of eclampsia other than hypertension: pregnancy-induced antithrombin deficiency and extraordinary weight gain.
  13. Identification of two de novo mutations responsible for type I antithrombin deficiency.
  14. Hereditary antithrombin deficiency--rare, but serious. Great risk of venous thromboembolism.
  15. EQUALIS expert group for coagulation. Functional method for the first choice diagnostics of hereditary antithrombin deficiency.
  16. Antiphospholipid antibodies and antithrombin deficiency: double trouble for pregnancy.
  17. A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency.
  18. Assessment for antithrombin deficiency in the real world.
  19. Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow).
  20. A successful outcome of pregnancy in a patient with congenital antithrombin deficiency.
  21. The phenotypic and genetic assessment of antithrombin deficiency.
  22. A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.
  23. Molecular basis of antithrombin deficiency.
  24. Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods.
  25. Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.
  26. Cerebral venous thrombosis during pregnancy in the setting of type I antithrombin deficiency: case report and literature review.
  27. Laboratory tests for antithrombin deficiency.
  28. Antithrombin-α for the prophylaxis of venous thrombosis in congenital antithrombin deficiency.
  29. Antithrombin deficiency and its laboratory diagnosis.
  30. Neuraxial anesthesia for labor and cesarean delivery in a parturient with hereditary antithrombin deficiency on recombinant human antithrombin infusion therapy.
  31. Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: type I deficiency as a strong risk factor for venous thromboembolism.
  32. Two new mutations of AT gene in type I inherited antithrombin deficiency..
  33. Pregnancy-induced antithrombin deficiency.
  34. Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation.
  35. Heterozygous antithrombin deficiency improves in vivo haemostasis in factor VIII-deficient mice.
  36. Inherited antithrombin deficiency and pregnancy: maternal and fetal outcomes.
  37. Acute mesenteric and aortic thrombosis associated with antithrombin deficiency: a rare occurrence.
  38. Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.
  39. Heparin resistance and antithrombin deficiency.
  40. Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update.
  41. The inefficacy of enoxaparin prophylaxis in a patient with congenital antithrombin deficiency.
  42. Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis.
  43. Inherited antithrombin deficiency: a review.
  44. Acute left atrial thrombosis during anticoagulant therapy in a patient with antithrombin deficiency.
  45. Molecular defects associated with antithrombin deficiency and dilated cardiomyopathy in a Japanese patient.
  46. Antithrombin deficiency increases thrombin activity after prolonged cardiopulmonary bypass.
  47. Antithrombin deficiency due to heterozygous antithrombin gene mutation and a pedigree study.
  48. Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA).
  49. Successful outcome in a pregnant woman with homozygous antithrombin deficiency.
  50. Live donor kidney transplantation in a patient with antithrombin deficiency.
  51. Molecular mechanisms of antithrombin deficiency caused by T98I and A404T mutation.
  52. Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options.
  53. Hemizygous antithrombin-deficiency (Budapest III) in a newborn presenting with a thrombosis at birth.
  54. Molecular basis of antithrombin deficiency in four Japanese patients with antithrombin gene abnormalities including two novel mutations.
  55. Perioperative bridging with fondaparinux in a woman with antithrombin deficiency.
  56. Gene symbol: SERPINC1. Disease: Antithrombin deficiency. Accession #Hd0514.
  57. A novel mutation in antithrombin gene results in hereditary antithrombin deficiency.
  58. Detecting antithrombin deficiency may be a difficult task--more than one test is necessary.
  59. Coexistence of three genetic risk factors in a Spanish thrombophilic family: Factor V Leiden, prothrombin 20210 and a new type I antithrombin deficiency.
  60. Antithrombin deficiency and its relationship to severe burns.
  61. Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.
  62. Comparison of the anticoagulant effect of a direct thrombin inhibitor and a low molecular weight heparin in an acquired antithrombin deficiency in children with acute lymphoblastic leukaemia treated with L-asparaginase: an in vitro study.
  63. Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.
  64. Molecular mechanisms of antithrombin deficiency in two Chinese families. One novel and one recurrent point mutation in the antithrombin gene causing venous thrombosis.
  65. First trimester superior sagittal sinus venous thrombosis and antithrombin deficiency.
  66. Type I antithrombin deficiency as a cause of arterial and venous thrombosis in a family with severe thrombophilia.
  67. Reduction of D-dimer levels after therapeutic administration of antithrombin in acquired antithrombin deficiency of severe sepsis.
  68. Identification of the novel signal peptide mutation, antithrombin-Siriraj causes type-I antithrombin deficiency in thai patients.
  69. Inherited antithrombin deficiency and end stage renal disease.
  70. Spontaneous aortic thrombosis and embolization: antithrombin deficiency and the work-up of hypercoagulable states.
  71. Two successful pregnancies following eight miscarriages in a patient with antithrombin deficiency.
  72. Type I hereditary antithrombin deficiency due to C2757T heterozygotic mutation in antithrombin gene.
  73. Laboratory identification of familial thrombophilia: do the pitfalls exceed the benefits? A reassessment of ABO-blood group, gender, age, and other laboratory parameters on the potential influence on a diagnosis of protein C, protein S, and antithrombin deficiency and the potential high risk of a false positive diagnosis.
  74. Successful therapy with argatroban for superior mesenteric vein thrombosis in a patient with congenital antithrombin deficiency.
  75. Study on the molecular mechanism of antithrombin gene C2759T (Leu99Phe) mutation causing antithrombin deficiency.
  76. Identification of a novel amino acid deletion mutation and a very rare single nucleotide variant in a Japanese family with type I antithrombin deficiency.
  77. Gene diagnosis of antithrombin deficiency and factor VII deficiency.
  78. Characterization of molecular defect of 13387-9delG mutated antithrombin in inherited type I antithrombin deficiency.
  79. Renovascular hypertension due to antithrombin deficiency in childhood.
  80. Biochemical activity and gene analysis of inherited protein C and antithrombin deficiency in two Chinese pedigrees.
  81. Repeated thromboembolism during pregnancy with constitutional antithrombin deficiency.
  82. Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.
  83. Argatroban therapy for antithrombin deficiency and mesenteric thrombosis: case report and review of the literature.
  84. Antithrombin antigen and activity in patients with acquired antithrombin deficiency-is there a difference?
  85. Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese.
  86. Inhibition of factor VIII with a partially inhibitory human recombinant monoclonal antibody prevents thrombotic events in a transgenic model of type II HBS antithrombin deficiency in mice.
  87. Influence of modest endotoxemia on postoperative antithrombin deficiency and circulating secretory immunoglobulin a levels.
  88. Use of recombinant human antithrombin in patients with congenital antithrombin deficiency undergoing surgical procedures.
  89. Anesthesia for a child with a congenital antithrombin deficiency.
  90. Hereditary antithrombin deficiency and pregnancy--what is the effective thromboprophylaxis?.
  91. Gestational thrombocytopenia and pregnancy-induced antithrombin deficiency: progenitors to the development of the HELLP syndrome and acute fatty liver of pregnancy.
  92. Type I antithrombin deficiency due to 13389G deletion in antithrombin gene.
  93. Antithrombin deficiency: issues in laboratory diagnosis.
  94. Intracellular accumulation of antithrombin Morioka (C95R), a novel mutation causing type I antithrombin deficiency.
  95. Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency.
  96. Impact of antithrombin deficiency in thrombogenesis: lipopolysaccharide and stress-induced thrombus formation in heterozygous antithrombin-deficient mice.
  97. Two novel gene mutations in type I antithrombin deficiency.
  98. Antithrombin deficiency in Brazilian patients with venous thrombosis: molecular characterization of a single splice site mutation, an insertion and a de novo point mutation.
  99. Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency.
  100. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism.
  101. Prevalence of antithrombin deficiency in patients with chronic leg ulcer.
  102. Olav Egeberg--hereditary antithrombin deficiency and thrombophilia.
  103. Acquired antithrombin deficiency in sepsis.
  104. Hereditary antithrombin deficiency resulting in severe neonatal thrombosis.
  105. Complete antithrombin deficiency in mice results in embryonic lethality.
  106. Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene.
  107. Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene.
  108. Alpha(2)-macroglobulin levels are high in adult patients with congenital antithrombin deficiency.
  109. Treatment of consumption coagulopathy with antithrombin concentrate in children with acquired antithrombin deficiency--a feasibility pilot study.
  110. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency.
  111. Hereditary and acquired antithrombin deficiency.
  112. Ischemic colitis associated with antithrombin deficiency.
  113. Antithrombin deficiency and thrombosis in a young child.
  114. A novel splice site mutation in a Brazilian patient with hereditary antithrombin deficiency type I.
  115. Ectopic transcript analysis in human antithrombin deficiency.
  116. Mutational analysis in antithrombin deficiency.
  117. Hereditary antithrombin deficiency and pregnancy. Pregnancy course in six women with known hereditary antithrombin deficiency.
  118. Impaired cotranslational processing as a mechanism for type I antithrombin deficiency.
  119. Postmortem DNA diagnosis of factor V Leiden in a neonate with systemic thrombosis and probable antithrombin deficiency.
  120. The molecular basis of antithrombin deficiency in Belgian and Dutch families.
  121. Genetic analysis of mutations in seven Japanese families with type I antithrombin deficiency.
  122. Coexistence of antithrombin deficiency, factor V Leiden and hyperhomocysteinemia in a thrombotic family.
  123. Genetic analysis in Japanese kindreds of congenital type I antithrombin deficiency causing thrombosis.
  124. A novel 4 base pair deletion mutation inducing type I antithrombin deficiency.
  125. Mortality and causes of death in inherited antithrombin deficiency.
  126. Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.
  127. Recurrent small bowel infarction associated with antithrombin deficiency.
  128. Acquired antithrombin deficiency following severe traumatic injury: rationale for study of antithrombin supplementation.
  129. A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.
  130. Molecular genetics of antithrombin deficiency.
  131. Analysis for antithrombin gene polymorphisms in Japanese subjects and cosegregation studies in families with hereditary antithrombin deficiency.
  132. Type I antithrombin deficiency: five novel mutations associated with thrombosis.
  133. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency.
  134. The plasma turnover of transfused antithrombin concentrate in patients with acquired antithrombin deficiency.
  135. Molecular genetics of human antithrombin deficiency.
  136. National Antithrombin Investigators Program. Antithrombin Deficiency--Basis for Therapy. Proceedings of a symposium. Phoenix, Arizona, October 21-23, 1995.
  137. Antithrombin deficiency in special clinical syndromes--Part II: panel discussion #2.
  138. Antithrombin deficiency in special clinical syndromes--Part II: hematologic malignancies and bone marrow transplantation.
  139. Antithrombin deficiency in special clinical syndromes--Part II: cardiovascular surgery.
  140. Antithrombin deficiency in special clinical syndromes--Part II: trauma/burns.
  141. Antithrombin deficiency in special clinical syndromes--Part I: panel discussion.
  142. Antithrombin deficiency in special clinical syndromes--Part I: neonatal and pediatric/physiologic deficiency: extracorporeal membrane oxygenation.
  143. Thrombocytopenia, antithrombin deficiency and extensive thromboembolism in pregnancy: treatment with low-molecular-weight heparin.
  144. Ectopic transcript analysis in human antithrombin deficiency.
  145. Coronary artery bypass surgery in patients with inherited antithrombin deficiency.
  146. Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.
  147. Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation.
  148. Homozygous antithrombin deficiency: report of two new cases (99 Leu to Phe) associated with arterial and venous thrombosis.
  149. The molecular genetics of antithrombin deficiency.
  150. Prevalence of antithrombin deficiency in the healthy population.
  151. Prevalence of antithrombin deficiency in healthy blood donors: a cross-sectional study.
  152. Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.
  153. Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening.
  154. Molecular basis of inherited human antithrombin deficiency.
  155. Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.
  156. A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis.
  157. The confirmation of preclinical familial antithrombin deficiency using polymorphism and specific oligonucleotide probes .
  158. Familial antithrombin deficiency.
  159. Treatment of acute thromboembolism in hereditary antithrombin deficiency--a review.
  160. Elevated factor Xa activity in the blood of asymptomatic patients with congenital antithrombin deficiency.
  161. Antithrombin deficiency in end-stage renal disease associated with paraplegia: effect of hemodialysis.
  162. On the clinical significance of acquired antithrombin deficiency.
  163. Antithrombin deficiency. Diagnosis and treatment.
  164. Antithrombin deficiency--a cause of unexplained thrombosis in vascular surgery.
  165. Termination of pregnancy in a woman with hereditary antithrombin deficiency under antithrombotic protection with subcutaneous heparin and infusion of plasma.
  166. Subcutaneous heparin for thrombosis in pregnant women with hereditary antithrombin deficiency.
  167. Platelet antithrombin deficiency: a new clinical entity.
  168. Inherited antithrombin deficiency causing thrombophilia.

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