Deep Vein Thrombosis and Pulmonary Embolism Secondary to Thrombophilic Disorder: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchIron Deficiency Anaemia (IDA) is a prevalent nutritional deficiency and a common haematological disorder characterised by low iron levels, which lead to reduced haemoglobin production, fatigue, pallor and diminished oxygen delivery.
Satbir Kaur Malik +3 more
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Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]
, 2009 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
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Infant with protein C deficiency and stroke in the setting of iron deficiency anemia
Clinical Case Reports, 2019 We report an 18‐month‐old infant with ischemic stroke, neurocognitive impairment, and psychomotor retardation in the setting of severe iron deficiency anemia. Although an uncommon outcome in anemic children, stroke is important to consider as a cause for
Tahseen Jalal Karim +4 more
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A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency [PDF]
, 2012 Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD)
Hiedl, Stefan +7 more
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HIV-Associated Thromboembolic Phenomenon due to Protein C Deficiency
Journal of the International Association of Providers of AIDS Care, 2014 HIV-infected individuals are at a high risk of developing arterial and venous thromboembolism. Opportunistic infections, protease inhibitors, low CD4 count, antiphospholipid antibodies, protein S, and protein C deficiencies are some important risk ...
Anmol Goyal MBBS, Ira Shah MD, DCH, DPID
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Congenital protein C deficiency and thrombosis in a dog
Journal of Veterinary Internal Medicine, 2020 Congenital protein C deficiency is an important cause of thrombosis in humans but is not described in dogs. A 4‐year‐old Hungarian Vizsla was presented for investigation of acute onset of ascites.
Darren Kelly, Florence Juvet, Gary Moore
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C-reactive protein deficiency ameliorates experimental abdominal aortic aneurysms
Frontiers in Immunology, 2023 BackgroundC-reactive protein (CRP) levels are elevated in patients with abdominal aortic aneurysms (AAA). However, it has not been investigated whether CRP contributes to AAA pathogenesis.MethodsCRP deficient and wild type (WT) male mice were subjected ...
Yu Fu +19 more
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Human protein C concentrate in the treatment of purpura fulminans : a retrospective analysis of safety and outcome in 94 pediatric patients [PDF]
, 2010 Introduction: Purpura fulminans (PF) is a devastating complication of uncontrolled systemic inflammation, associated with high incidence of amputations, skin grafts and death.
Doris Fischer +16 more
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Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]
, 2012 Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M. +76 more
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Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 [PDF]
, 2010 Context: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory ...
Metherell, LA +5 more
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