Results 41 to 50 of about 749,451 (200)

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Griese, Matthias, de Blic, Jacques, Bahuau, Michael, Tredano, Mohammed, Fournet, Jean-Christophe, Elion, Jacques   +5 more
core   +1 more source

Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing

Diagnostics, 2022
The deficiency of natural anticoagulants—antithrombin (AT), protein C (PC), and protein S (PS)—is a highly predisposing factor for thrombosis, which is still underdiagnosed at the genetic level.
Petr Vrtel, Ludek Slavik, Radek Vodicka, Julia Stellmachova, Martin Prochazka, Jana Prochazkova, Jana Ulehlova, Peter Rohon, Tomas Simurda, Jan Stasko, Ivana Martinkova, Radek Vrtel   +11 more
doaj   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

Acute ischemic stroke with cortical blindness caused by inherited protein C deficiency

Journal of Medical Sciences, 2023
Bilateral occipital lesions caused by bilateral posterior cerebral artery (PCA) blockage are rare and can present as cortical blindness, which is defined as loss of vision without any ophthalmological cause and retention of normal pupillary light ...
Ching-Hao Yu, Yi Liu, Chih-Wei Wang, Fu-Chi Yang   +3 more
doaj   +1 more source

Homozygous protein C deficiency with moderately severe clinical symptoms

, 1986
We report a large family with two members homozygotes for protein C deficiency, with activity levels of 5% and 9%. Thirteen additional members were heterozygotes, with protein C activity ranging from 36-66% and equally low levels of protein C antigen ...
G. Mariani, C. Sharon, M. C. Tirindelli, A. Tripodi, P. M. Mannucci   +4 more
core   +1 more source

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Background Inherited thrombophilias are well‐established predisposing factors for venous thromboembolism, but their role in arterial thrombosis, such as arterial ischemic stroke, remains uncertain.
Thita Chiasakul, Elizabeth De Jesus, Jiayi Tong, Yong Chen, Mark Crowther, David Garcia, Chatree Chai‐Adisaksopha, Steven R. Messé, Adam Cuker   +8 more
doaj   +1 more source

Protein C Gene Mutation in an Older Adult Patient with Clostridium perfringens Septicemia-Related Visceral Vein Thrombosis

TH Open, 2021
A 78-year-old Japanese male with Clostridium perfringens septicemia and cholecystitis was found to have thrombosis in the left branch of intrahepatic portal vein as well as superior mesenteric vein.
Kiyoko Kanosue, Satomi Nagaya, Eriko Morishita, Masayoshi Yamanishi, Shinsaku Imashuku   +4 more
doaj   +1 more source

Visualization of protein-protein interactions in the secretory pathway of mammalian cells [PDF]

, 2006
An increasing number of human disorders are being linked to mutations in components of the secretory pathway. One example is combined blood coagulation factor V and VIII deficiency, an autosomal recessive disorder leading to hemophilia due to markedly ...
Nyfeler, Beat
core   +1 more source

Derangement of protein S and C4b-binding protein levels as acquired thrombophilia in HIV-infected adult Nigerians

Southern African Journal of HIV Medicine, 2021
Background: HIV is a chronic inflammatory state with the production of many acute-phase-reactant proteins. Some of these proteins have procoagulant activities that predispose HIV-infected patients to thrombosis.
Fatai O. Bello, Alani S. Akanmu, Titilope A. Adeyemo, Bukunmi M. Idowu, Prosper Okonkwo, Phyllis J. Kanki   +5 more
doaj   +1 more source

A Study of Prothrombotic Factors in Human Immunodeficiency Virus-Infected Patients

Indian Journal of Medical Specialities, 2021
Introduction: Human immunodeficiency virus (HIV) infection has been described as a hypercoagulable state. Some studies suggest that thrombotic events may be 2–10 times more prevalent in this group than in the general population.
Meena Lanjiwar, Pushpa Kumari, Jitendra Mohan Khunger, Narender Singh Negi   +3 more
doaj   +1 more source