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Factor IX Deficiency

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101. Glucuronyl Transferase Deficiency (Diagnosis)

Glucuronyl Transferase Deficiency (Diagnosis) Unconjugated Hyperbilirubinemia: Practice Essentials, Background, Pathophysiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTc4ODQxLW92ZXJ2aWV3 processing (...) % is derived from the hepatic turnover of heme proteins, such as myoglobin, cytochromes, and catalase. A small portion of daily bilirubin is derived from the destruction of young or developing erythroid cells. Bilirubin is poorly soluble in water at physiologic pH because of internal hydrogen bonding that engages all polar groups and gives the molecule an involuted structure. The fully hydrogen-bonded structure of bilirubin is designated bilirubin IX-alpha-ZZ. The intramolecular hydrogen bonding shields

2014 eMedicine Pediatrics

102. IgA and IgG Subclass Deficiencies (Diagnosis)

immunoglobulin (Ig), or both to lacunar deficits that involve specific antibody responses to polysaccharides. The spectrum of antibody deficiency is broad, ranging from decreased total IgG levels to normal IgG levels and from primary B-cell defects to combined immunodeficiencies with antibody abnormalities associated with other immune and often nonimmune abnormalities. Although this article discusses and hypogammaglobulinemia, the emphasis is on selective Ig deficiencies, including the decreased production (...) vaccine in children with recurrent infections who are unresponsive to the polysaccharide vaccine. Pediatr Infect Dis J . 1998 Aug. 17(8):685-91. . Meyts I, Bossuyt X, Proesmans M, De B. Isolated IgG3 deficiency in children: to treat or not to treat? Case presentation and review of the literature. Pediatr Allergy Immunol . 2006 Nov. 17(7):544-50. . Garcia-Lloret M, McGhee S, Chatila TA. Immunoglobulin replacement therapy in children. Immunol Allergy Clin North Am . 2008 Nov. 28(4):833-49, ix

2014 eMedicine Pediatrics

103. Proximal Femoral Focal Deficiency (Overview)

knee arthroscopy to identify changes in cruciate ligaments and their relation to the different types of PFFD in patients with Pappas type III, IV, VII, VIII, or IX deficiency, Chomiak et al found variable changes of the cruciate ligaments in all but one patient. Although these changes were not clinically relevant in most of the patients and were not related to the Pappas classification, the authors recommended imaging of cruciate ligaments before lengthening of the extremity in order to avoid knee (...) age, whereas others will be more inclined to attempt to preserve the natural limb no matter what. Treatment must be individualized on the basis of the following factors [ ] : Limb-length discrepancy Presence of associated malformations Adequacy of musculature Proximal joint stability Previous References Oppenheim WL, Setoguchi Y, Fowler E. Overview and comparison of Syme's amputation and knee fusion with the van Nes rotationplasty procedure in proximal femoral focal deficiency. Herring JA, Birch J

2014 eMedicine Surgery

104. Inhibition of Tissue Factor Pathway Inhibitor (TFPI) as a Treatment for Haemophilia: Rationale with Focus on Concizumab Full Text available with Trip Pro

Inhibition of Tissue Factor Pathway Inhibitor (TFPI) as a Treatment for Haemophilia: Rationale with Focus on Concizumab Replacement therapy with missing factor (F) VIII or IX in haemophilia patients for bleed management and preventative treatment or prophylaxis is standard of care. Restoration of thrombin generation through novel mechanisms has become the focus of innovation to overcome limitations imposed by protein replacement therapy. Tissue factor pathway inhibitor (TFPI) is a multivalent (...) Kunitz-type serine protease inhibitor that regulates tissue factor (TF)-induced coagulation through a FXa-dependent feedback inhibition of the TF.FVIIa complex in plasma and on endothelial surfaces. Concizumab is a monoclonal, humanised antibody, specific for the second Kunitz domain of TFPI that binds and inhibits FXa, abolishing the inhibitory effect of TFPI. Concizumab restored thrombin generation in FVIII and FIX deficient plasmas and decreased blood loss in a rabbit haemophilia model. Phase 1

2018 Drugs

105. Evaluation of Coagulation Factors and Point-of-care Devices During Veno-venous ECMO Therapy

. Condition or disease Intervention/treatment Extracorporeal Membrane Oxygenation Complication Coagulation Factor Deficiency Diagnostic Test: Detailed coagulation monitoring Study Design Go to Layout table for study information Study Type : Observational Actual Enrollment : 20 participants Observational Model: Cohort Time Perspective: Prospective Official Title: Analysis of the Activity of Different Coagulation Factors and Monitoring of Coagulation Using Point-of-care Devices During a Veno-venous ECMO (...) of the activity of coagulation factor VIII in % through standard coagulometric methods. Changes in the activity of coagulation factor IX [%] during Veno-venous ECMO [ Time Frame: Pre-canulation and 6 hours, 1 day, 3 days, 7 days, 11 days, 15 days and 21 days after canulation ] Repeated assessment of the activity of coagulation factor IX in % through standard coagulometric methods. Changes in the activity of coagulation factor X [%] during Veno-venous ECMO [ Time Frame: Pre-canulation and 6 hours, 1 day, 3

2018 Clinical Trials

106. MASAC Recommendation Regarding the Use of Recombinant Clotting Factor Products with Respect to Pathogen Transmission

transmission and should be considered the treatment of choice for individuals with hemophilia A. 2. The recombinant factor IX products Alprolix, BeneFIX, and Rixubis are potentially the safest factor IX products available with respect to pathogen transmission and should be considered the treatment of choice for individuals with hemophilia B. 3. The recombinant factor VIIa product NovoSeven is potentially the safest factor VII product available with respect to pathogen transmission and should be considered (...) the treatment of choice for individuals with congenital factor VII deficiency. 4. The recombinant factor XIII-A subunit product Tretten is potentially the safest factor XIII-A subunit product available with respect to pathogen transmission and should be considered the treatment of choice for individuals with congenital factor XIII-A subunit deficiency. 5. For hemophilia A and B patients with inhibitors, there are often overriding concerns about efficacy that supersede those of potentially increased safety

2014 National Hemophilia Foundation

107. CarF Mediates Signaling by Singlet Oxygen, Generated via Photoexcited Protoporphyrin IX, in Myxococcus xanthus Light-Induced Carotenogenesis Full Text available with Trip Pro

CarF Mediates Signaling by Singlet Oxygen, Generated via Photoexcited Protoporphyrin IX, in Myxococcus xanthus Light-Induced Carotenogenesis Blue light triggers carotenogenesis in the nonphototrophic bacterium Myxococcus xanthus by inducing inactivation of an anti-σ factor, CarR, and the consequent liberation of the cognate extracytoplasmic function (ECF) σ factor, CarQ. CarF, the protein implicated earliest in the response to light, does not resemble any known photoreceptor. It interacts (...) physically with CarR and is required for its light-driven inactivation, but the mechanism is unknown. Blue-light sensing in M. xanthus has been attributed to the heme precursor protoporphyrin IX (PPIX), which can generate the highly reactive singlet oxygen species ((1)O(2)) by energy transfer to oxygen. However, (1)O(2) involvement in M. xanthus light-induced carotenogenesis remains to be established. Here, we present genetic evidence of the involvement of PPIX as well as (1)O(2) in light-induced

2012 Journal of bacteriology

108. Role of Rac1 in Glycoprotein Ib-IX Mediated Signal Transduction and Integrin Activation. Full Text available with Trip Pro

Role of Rac1 in Glycoprotein Ib-IX Mediated Signal Transduction and Integrin Activation. The platelet receptor for von Willebrand factor, the glycoprotein Ib-IX (GPIb-IX) complex, mediates platelet adhesion at sites of vascular injury and transmits signals leading to platelet activation. von Willebrand factor/GPIb-IX interaction sequentially activates the Src family kinase Lyn (SFK), phosphoinositide 3-kinase (PI3K), and Akt, leading to activation of integrin α(IIb)β(3) and integrin-dependent (...) stable platelet adhesion and aggregation. It remains unclear how Lyn activates the PI3K/Akt pathway after ligand binding to GPIb-IX.Using platelet-specific Rac1(-/-) mice and the Rac1 inhibitor NSC23766, we examined the role of Rac1 in GPIb-IX-dependent platelet activation. Rac1(-/-) mouse platelets and NSC23766-treated human platelets were defective in GPIb-dependent stable adhesion to von Willebrand factor under shear stress, integrin activation, thromboxane A(2) synthesis, and platelet aggregation

2012 Thrombosis and Vascular Biology

109. G6PD Deficiency

A Fava beans (Italian Broad Beans) Bell Beans Broad Beans English Dwarf Beans Haba Beans Horse Beans Pigeon Beans Silkworm Beans Tic Beans V. Symptoms and Signs Usually asymptomatic See for acute episodes VI. Differential Diagnosis See See VII. Labs See See VIII. Complications Increased risk of IX. Prevention Avoid precipitating factors See Keep s up-to-date Treat following episode supplementation Measures that are not recommended (no benefit) Splenectomy X. References Golan in Goldman (2000) Cecil (...) G6PD Deficiency G6PD Deficiency Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 G6PD Deficiency G6PD Deficiency Aka: G6PD Deficiency

2015 FP Notebook

110. Vitamin B12 Deficiency

Deficiency Aka: Vitamin B12 Deficiency , Pernicious Anemia , B12 Deficiency , Cobalamin Deficiency , Cyanocobalamin Deficiency From Related Chapters II. Epidemiology U.S.: 6% in patients under age 60 years (20% in those over age 60 years) Latin America: 40% Kenya: 70% East India: 70-80% III. Pathophysiology See Symptoms may lag Vitamin B12 Deficiency for as many as 10 years until vast hepatic stores are exhausted IV. Causes: Vitamin B12 Deficiency See Decreased intrinsic factor Atrophic Rouz-en-Y (...) and other post-gastrectomy syndromes (see malabsorption below) Pernicious Anemia Autoimmune parietal cell destruction as part of a chronic autoimmune Results in insufficient intrinsic factor production B12 Deficiency is preceded by by 20 years, and asymptomatic by 30 years Elderly with atrophic (10-30% over age 60 years) Can not absorb bound to protein However can absorb crystalline normally Malabsorption Zollinger-Ellison Syndrome ( oma) Whipple Disease Short- Syndrome Intestinal infection (e.g

2015 FP Notebook

111. Zinc Deficiency

with organ failure) VIII. Labs Serum zinc levels are not a reliable measure of zinc stores IX. Diagnosis Zinc Deficiency is a clinical diagnosis rather than a lab diagnosis Base diagnosis on symptoms, signs, risk factors and overall X. Management See for RDA levels Mild Zinc Deficiency at 2-3 times the RDA for 6 months Severe Zinc Deficiency at 4-5 times the RDA for 6 months Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Zinc (...) zinc , deficiencies zinc , Zinc Deficiency Disorder , Zinc deficiency , Zinc deficiency (disorder) , deficiency; zinc , zinc; deficiency Italian Carenza di zinco , Zinco basso , Livelli di zinco bassi , Zinco diminuito , Zn++ basso Dutch zink verlaagd , zink laag , Zn-spiegels laag , Zn++ laag , deficiëntie; zink , zink; deficiëntie , zinkdeficiëntie French Taux de zinc bas , Zn++ bas , Zinc bas , Zinc diminué , DEFICIT DU ZINC , Carence en zinc German Zink erniedrigt , Zink niedrig , Zinkspiegel

2015 FP Notebook

112. Vitamin D Deficiency

Aka: Vitamin D Deficiency , Hypovitaminosis D II. Epidemiology Vitamin D Deficiency is common in U.S. (esp. in northern climates) increasing due to use and less doors Age over 65 are associated worldwide with Vitamin D Deficiency in >50% of people III. Risk Factors: Infants Anticonvulsants Chronic disease with fat malabsorption Exclusively -fed infant without supplementation Low maternal levels Lack of Direct sunlight avoidance is recommended by AAP for those under 6 months Darker skin (...) See Consider in those diagnosed with , , IX. Associated Conditions: Conditions linked to Vitamin D Deficiency Musculoskeletal Conditions Other associated conditions (but insufficient evidence that supplementation prevents these conditions) Fall Risk Cardiovascular Disease X. Labs Serum 25-Hyroxyvitamin D Level Routine screening is not recommended testing or supplementation is not indicated in , , or Preferred test (but expensive) Levels <20 ng/ml suggest deficiency (<30 ng/ml per endocrine society

2015 FP Notebook

113. Vitamin C Deficiency

Aka: Vitamin C Deficiency , Ascorbic Acid Deficiency , Scurvy II. Pathophysiology: Vitamin C Deficiency Increased fragility of capillaries Poor III. Risk factors Elderly edentulous patients who cook for themselves Mental illness Institutionalized patients Infant on processed milk without supplementation Unusual dietary habits Malabsorption syndromes IV. Symptoms Children Irritability Decreased Appetite Leg tenderness External bleeding l erythema and bleeding Other symptoms Mood changes V. Signs (...) Vitamin C Deficiency Vitamin C Deficiency Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Vitamin C Deficiency Vitamin C Deficiency

2015 FP Notebook

114. Diagnosis and management of acquired coagulation factor inhibitor

(VWD) guideline is in preparation (Laffan et al , ; Pasi et al , ). Methods The writing group reviewed publications known to them, supplemented with papers identified through Pubmed, using index terms H(a)emophilia, acquired h(a)emophilia, factors VIII, II, V, VII, IX, X, XI, XIII, fibrinogen, fibrin, inhibitors, autoantibodies, rFVIIa, Novoseven, FEIBA, aPCC, rituximab, management. The writing group produced the draft guideline, which was reviewed and revised by members of the United Kingdom (...) , correction to within the reference range may not occur with a moderate/severe factor deficiency. Conversely, a low titre inhibitor may be diluted by addition of normal plasma to give partial correction in mixing studies. 2It is possible for LA to coexist with a factor deficiency. 3Patients on oral direct inhibitors may also develop acquired inhibitors – attention to the pattern of screening test results (e.g., a prolongation of the aPTT out of proportion to the PT in a patient on Coumadin therapy

2013 British Committee for Standards in Haematology

115. Studies on the pathogenesis of acute inflammation: IX. The influence of hyperosmolality secondary to hyperglycemia upon the acute inflammatory response induced by thermal injury to ear chambers of rabbits Full Text available with Trip Pro

Studies on the pathogenesis of acute inflammation: IX. The influence of hyperosmolality secondary to hyperglycemia upon the acute inflammatory response induced by thermal injury to ear chambers of rabbits The inflammatory reaction induced in ear chambers of rabbits by heat injury was studied in nondiabetic animals made hyperglycemic with continuous infusions of glucose. Hypertonic solutions of glucose administered intravenously to rabbits induced the following triad: hyperglycemia (...) , hyperosmolality, and metabolic lactic acidosis. It was found that relatively short periods of this metabolic abnormality were associated with a significant reduction in the intensity of the inflammatory reaction. There was no evidence microscopically of circulatory impairment within ear chambers; and since neither arterial hypotension nor oxygen deficit was recorded during experiments, it appeared most likely that decreased leucocytic margination per se best explained the inhibited exudative response

1970 Journal of Clinical Investigation

116. Hereditary disorders of blood coagulation due to defective and deficient synthesis of protein. Full Text available with Trip Pro

Factor VIII 9001-28-9 Factor IX 9001-29-0 Factor X IM Afibrinogenemia genetics Blood Coagulation Disorders etiology genetics Blood Proteins biosynthesis Factor IX metabolism Factor VIII metabolism Factor X metabolism Female Hemophilia A genetics Humans Male Prothrombin metabolism 43 1970 10 26 1970 10 26 0 1 1970 10 26 0 0 ppublish 4934014 PMC2441040 J Clin Invest. 1968 Feb;47(2):360-5 12066779 Fed Proc. 1965 Jul-Aug;24(4):816-21 5829185 Nature. 1965 Oct 9;208(5006):143-5 4956920 Br J Haematol. 1966 (...) Hereditary disorders of blood coagulation due to defective and deficient synthesis of protein. 4934014 1971 09 07 2018 11 13 0065-7778 82 1971 Transactions of the American Clinical and Climatological Association Trans. Am. Clin. Climatol. Assoc. Hereditary disorders of blood coagulation due to defective and deficient synthesis of protein. 114-23 Jackson D P DP eng Journal Article Review United States Trans Am Clin Climatol Assoc 7507559 0065-7778 0 Blood Proteins 9001-26-7 Prothrombin 9001-27-8

1971 Transactions Of The American Clinical And Climatological Association

117. Role of extracytoplasmic function sigma factor PG1660 (RpoE) in the oxidative stress resistance regulatory network of Porphyromonas gingivalis Full Text available with Trip Pro

conditions 176 genes including genes involved in secondary metabolism were downregulated more than two-fold compared with the parental strain. The rPG1660 protein also showed the ability to bind to the promoters of the highly downregulated genes in the PG1660-deficient mutant. As the ECF sigma factor PG0162 has a 29% identity with PG1660 and can modulate its expression, the cross-talk between their regulatory networks was explored. The expression profile of the PG0162PG1660-deficient mutant (P (...) . gingivalis FLL356) revealed that the type IX secretion system genes and several virulence genes were downregulated under hydrogen peroxide stress conditions. Taken together, we have confirmed that PG1660 can function as a sigma factor, and plays an important regulatory role in the oxidative stress and virulence regulatory network of P. gingivalis.© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

2017 Molecular oral microbiology

118. Individual clotting factor contributions to mortality following trauma Full Text available with Trip Pro

presenting to San Francisco General Hospital between February 2005 and February 2015. Factors II, V, VII, VIII, IX, and X and protein C activity on admission and mortality status at 28 days were assessed. Predictors of 28-day mortality in univariate analysis were included in multiple logistic regression controlling for traumatic brain injury (TBI), acidosis, age, and mechanism of injury. Principal component analysis was utilized to identify phenotypic coagulation.Complete coagulation factor data were (...) available for 876 (61%) of 1,429 patients. In multiple logistic regression, factors V (odds ratio [OR], 0.86; 95% confidence interval [CI], 0.76-0.97), VIII (OR, 0.97; 95% CI, 0.95-0.99), and X (OR, 0.79; 95% CI, 0.68-0.92) and protein C (OR, 1.17; 95% CI, 1.05-1.30) significantly predicted 28-day mortality after controlling for age, base deficit, mechanism of injury, and TBI. Principal component analysis identified two significant principal components (Phenotypes 1 and 2) that accounted for 66.3

2017 The journal of trauma and acute care surgery

119. Extended Half Life Factor (EHF) Products For Heavy Menstrual Bleeding in Hemophilia Carriers

study will provide information for an upcoming larger study. Condition or disease Intervention/treatment Phase Hemophilia Menstrual Flow Excessive Drug: Recombinant FVIII Fc fusion product Eloctate Drug: Recombinant FIX Fc fusion product Alprolix Device: Patient-operated diagnostic device for anemia AnemoCheck. Early Phase 1 Detailed Description: Hemophilia A or B is caused by defects in the factor VIII or IX gene, respectively, of which is located on the X chromosome. This disorder exhibits X (...) -linked inheritance, in which primarily males, with a single X chromosome, are affected and females, with two X chromosomes, are heterozygotes, or carriers. Hemophilia carriers show a wide distribution of factor VIII or IX levels with a mean of 50%, which overlaps the distribution of non-carrier women. Heavy menstrual bleeding is defined as menstrual bleeding that lasts more than 7 days or more specifically as the loss of more than 80cc of blood per cycle. Management is critical as it can lead to iron

2017 Clinical Trials

120. Von Willebrand Factor

Factor Aka: Von Willebrand Factor , VWF , Von Willebrand Factor Antigen , Von Willebrand Factor Ristocetin Cofactor Activity , VWF:Ag , VWF:RCo From Related Chapters II. Physiology Von Willebrand Factor synthesis Vascular endothelium s Von Willebrand Factor release Platelet activation Endothelial cells Von Willebrand Factor activity Binds factor VIII in circulation (prolongs Factor VIII half-life) Releases factor VIII in response to bleeding Factor VIII in turn is a or in the conversion of Factor IX (...) to IXa in the initrinsic to form thrombin Bridges exposed collagen and platelets when vascular injury occurs Von Willebrand Factor mediates platelet adhesion Von Willebrand Factor is a large protein that binds damaged vasculature and traps, binds platelets to form a platelet plug Analogous to 6-pack plastic ring holder that traps wildlife Von Willebrand Factor deficiency Results in delayed platelet plug formation Results in mucocutaneous bleeding III. Labs Normal VWF range: 50-200 IU/dl IV. Causes

2018 FP Notebook

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