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C Deficiency (c + deficiency)
Kinds of C Deficiency Selected AbstractsRecurrent Vasculopathic Skin Lesions Associated with Homozygous Protein C DeficiencyPEDIATRIC DERMATOLOGY, Issue 1 2007Pinar Isik Agras M.D. Vasculopathy associated with hypercoagulable state in protein C deficiency has also been reported rarely. We described a boy who was diagnosed as having homozygous protein C deficiency during the neonatal period, when he developed purpura fulminans. At 7 years of age, he developed recurrent, painful, nonscarring, purpuric skin lesions. Histopathologic skin findings were compatible with those of vasculopathy. The histopathologic characteristics of these vasculopathic lesions and the pathogenetic mechanisms of their association with protein C deficiency are discussed. [source] Purpura Fulminans Secondary to Transient Protein C Deficiency as a Complication of Chickenpox InfectionPEDIATRIC DERMATOLOGY, Issue 4 2006ALI BAY M.D. No abstract is available for this article. [source] Role of Marginal Vitamin C Deficiency in Atherogenesis: In Vivo Models and Clinical StudiesBASIC AND CLINICAL PHARMACOLOGY & TOXICOLOGY, Issue 6 2009Henriette Frikke-Schmidt Naturally, vitamin C has been the subject of many investigations over the past decades in relation to its possible beneficial effects on cardiovascular disease primarily based on its powerful yet general antioxidant properties. However, growing epidemiological, clinical and experimental evidence now suggests a more specific role of ascorbate in vasomotion and in the prevention of atherosclerosis. For example, in contrast to most other biological antioxidants, administration of vitamin C can apparently induce vasodilation. Millions of people worldwide can be diagnosed with vitamin C deficiency according to accepted definitions. In this perspective, the present review examines the evidence for a specific link between vitamin C deficiency and increased risk of atherosclerosis as well as the possible mechanisms by which vitamin C may exert its protective function. [source] Determinants and adequacy of food consumption of children in La Trinidad, the PhilippinesINTERNATIONAL JOURNAL OF CONSUMER STUDIES, Issue 3 2007Nienke Blijham Abstract In the Philippines, vitamin A and vitamin C deficiencies, particularly among children, is a pressing health problem. This article reports the results of a research project that aimed at gaining insight into the factors in the household context that influence food intake of children and the role these factors play in vitamin A and vitamin C deficiencies. The research was carried out in La Trinidad, an urban area in the Philippines, where sufficient nutritious foods proved to be available. The results show that household income has only a minor impact on nutritional status. The nutritional status of children seems to be primarily influenced by their food preferences and the level of parental control on their food intake. [source] Livedoid vasculopathy and hypercoagulability in a patient with primary Sjögren's syndromeINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 4 2007Raquel Cardoso MD Background, A 31-year-old woman presented with a 5-year history of painful ulcerations, palpable purpura, porcelain-white atrophic scars of the malleolar region and dorsal aspect of the feet, livedo reticularis on the limbs, arthralgia, xerophthalmia, and xerostomia. Methods, Skin biopsy revealed vessel wall hyalinization and thrombosis of the microvasculature with a very scarce dermal inflammatory infiltrate. Biopsy of the oral mucosa showed mononuclear infiltration of an intralobular duct of a salivary gland. Results, Laboratory studies, including autoantibodies and inflammation markers, were normal, except for a positive rheumatoid factor. Coagulation screening revealed C677T methylenetetrahydrofolate reductase (MTHFR) mutation, with a normal serum homocysteine. The patient was treated with oral methylprednisolone (32 mg/day with progressive reduction) and enoxaparin (20 mg/day subcutaneously), with complete ulcer healing within 4 months. Conclusion, Livedoid vasculitis or vasculopathy has not been referred to previously in association with Sjögren's syndrome, but may be associated with other autoimmune disorders and anomalies of coagulation, namely factor V Leiden mutation, protein C deficiency, and MTHFR mutation, associated or not with hyperhomocysteinemia, a condition that seems to confer an increased risk of recurrent arterial and venous thrombosis. We stress the importance of anticoagulant therapy for ulcer healing and for the prevention of other thrombotic events. [source] Evaluation of a new venom-based clotting assay of protein CINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 5 2008P. C. COOPER Summary Congenital protein C deficiency significantly increases the risk of venous thromboembolism, a serious and potentially lethal condition. Protein C levels can be determined by chromogenic, clotting and antigenic assays, each type of assay has differences in specificity and sensitivity to protein C deficiency. In principle, clotting-based assays of protein C are preferred over chromogenic assays, as they can detect some rare mutations that are missed by the chromogenic assay, however, clotting-based assays may be prone to inaccuracy because of poor specificity. We have evaluated a new venom-based clotting assay of protein C, and optimized it for use on Sysmex CA-1500 analyser. The assay was linear from 0 to 130 U/dl, a normal plasma demonstrated good inter-assay precision, with a coefficient of variation of 4.8%. The assay compared well with antigenic- and venom-based chromogenic protein C assay in normal individuals, subjects with lupus anticoagulant, and subjects with FV Leiden. Median protein C levels by clotting, chromogenic and antigen for the three subject groups were 108 U/dl, 108 IU/dl and 109 IU/dl for normal subjects, 94 U/dl, 106 IU/dl and 103 IU/dl for subjects with lupus anticoagulant, and 102 U/dl, 104 IU/dl and 100 IU/dl for subjects heterozygous for FV Leiden. Comparing levels of clotting protein C with protein C antigen by ratio (clotting/antigen), the three groups showed small differences that did not quite reach statistical significance, (mean ratios ranged from 0.95 to 1.01, anovaP = 0.0561), the lowest ratio was with the lupus anticoagulant group. Comparing clotting assay with chromogenic assay by ratio (clotting/chromogenic), the three groups did show a statistically significant difference (P = 0.0033) which was due to a difference in mean ratios between normal and lupus anticoagulant groups (ratios 1.00 and 0.91, respectively, P < 0.01). There was no statistical difference in any of the groups when comparing chromogenic protein C with protein C antigen (mean ratios ranged from 1.02 to 1.05, P = 0.3925). In a normal sample, the clotting-based protein C level was unaffected by increasing FVIII level by up to 1000 IU/dl, using intermediate purity FVIII concentrate. The new assay is considered to be a suitable assay for the routine diagnosis of protein C deficiency. [source] Stuttering priapism complicating Warfarin therapy in a patient with protein C deficiencyINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 4 2008R. A. H. ABU SHAM'A Summary Priapism is a rare disorder defined as a persistent penile erection that continues hours beyond, or is unrelated to, sexual stimulation. There are two types of priapism; ischemic low-flow type or non-ischemic high flow, with differing etiologies. Priapism associated with thrombophilia is a well-recognized entity. However, the pathogenesis of this association is not fully understood. We report a rare case of recurrent (stuttering) priapism in a patient with protein C deficiency while maintained on Warfarin therapy. This therapy was also complicated by Warfarin-induced skin necrosis. [source] Reviews: A review of hereditary and acquired coagulation disorders in the aetiology of ischaemic strokeINTERNATIONAL JOURNAL OF STROKE, Issue 5 2010Lonneke M. L. De Lau The diagnostic workup in patients with ischaemic stroke often includes testing for prothrombotic conditions. However, the clinical relevance of coagulation abnormalities in ischaemic stroke is uncertain. Therefore, we reviewed what is presently known about the association between inherited and acquired coagulation disorders and ischaemic stroke, with a special emphasis on the methodological aspects. Good-quality data in this field are scarce, and most studies fall short on epidemiological criteria for causal inference. While inherited coagulation disorders are recognised risk factors for venous thrombosis, there is no substantial evidence for an association with arterial ischaemic stroke. Possible exceptions are the prothrombin G20210A mutation in adults and protein C deficiency in children. There is proof of an association between the antiphospholipid syndrome and ischaemic stroke, but the clinical significance of isolated mildly elevated antiphospholipid antibody titres is unclear. Evidence also suggests significant associations of increased homocysteine and fibrinogen concentrations with ischaemic stroke, but whether these associations are causal is still debated. Data on other acquired coagulation abnormalities are insufficient to allow conclusions regarding causality. For most coagulation disorders, a causal relation with ischaemic stroke has not been definitely established. Hence, at present, there is no valid indication for testing all patients with ischaemic stroke for these conditions. Large prospective population-based studies allowing the evaluation of interactive and subgroup effects are required to appreciate the role of coagulation disorders in the pathophysiology of arterial ischaemic stroke and to guide the management of individual patients. [source] Transjugular intrahepatic cavoportal shunt for Budd,Chiari syndromeJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 2 2005T Ul Haq Summary Budd,Chiari syndrome (BCS) is characterized by obstruction of the hepatic venous outflow tract. Therapeutic options for BCS are limited. We report a case of a 21-year-old woman with protein S and C deficiency with gross ascites. Treatment with transjugular intrahepatic portosystemic shunt (TIPS) was attempted, which revealed occluded hepatic veins, so transcaval TIPS was performed. No serious procedure-related complication occurred. After successful shunt creation, the patient's symptoms subsided and she was discharged and followed up for 6 months. [source] Severe type I protein C deficiency with neonatal purpura fulminans due to a novel homozygous mutation in exon 6 of the protein C geneJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 5 2006K. K. ABU-AMERO [source] Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient familyJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 2 2004C. Y. Vossen Summary.,Background:,Earlier studies found strong support for a genetic basis for regulation of coagulation factor levels and measures of a prethrombotic state (d -dimer, prothrombin fragment 1.2). Objectives:,Estimation of how much of the variation in the levels of coagulation factors and measures of a prethrombotic state, including measures of protein C activation and inactivation, could be attributed to heritability and household effect. Patients and methods:,Blood samples were collected from 330 members of a large kindred of French-Canadian origin with type I protein C deficiency. Heritability and common household effect were estimated for plasma concentrations of prothrombin, factor (F)V, factor VIII, factor (F)IX, fibrinogen, von Willebrand factor (VWF), antithrombin, protein C, protein S, protein Z, protein Z-dependent protease inhibitor (ZPI), fibrinopeptide A (FPA), protein C activation peptide (PCP), activated protein C,protein C inhibitor complex (APC,PCI), activated protein C,,1 -antitrypsin complex (APC,,1AT), prothrombin fragment 1.2 (F1.2) and d -dimer, using the variance component method in sequential oligo-genic linkage analysis routines (SOLAR). Results:,The highest heritability was found for measures of thrombin activity (PCP and FPA). High estimates were also found for prothrombin, FV, FIX, protein C, protein Z, ZPI, APC,PCI and APC,,1AT. An important influence of shared household effect on phenotypic variation was found for VWF, antithrombin, protein S and F1.2. Conclusions:,We found strong evidence for the heritability of single coagulation factors and measures of a prethrombotic state. Hemostatic markers with statistically significant heritability constitute potential targets for the identification of novel genes involved in the control of quantitative trait loci. [source] Pediatric venous thromboembolic disease in one single center: congenital prothrombotic disorders and the clinical outcomeJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 12 2003C. H. Van Ommen Summary., To learn more about the frequencies of congenital prothrombotic disorders in pediatric venous thromboembolism (VTE) and the outcome of this disease, we evaluated consecutive patients from 0 to 18 years with objectively diagnosed VTE at a single tertiary center over a 12-year period. We included 100 patients, with a median age at diagnosis of 1.0 year (range 2 days to 17 years). At least one underlying clinical condition was present in 96% of the patients. Factor (F)V G1691A mutation was present in 13%, FII G20210A mutation in 3%, antithrombin deficiency in 1%, protein C deficiency in 1% and protein S deficiency in 1% of the tested patients. Combined defects were present in 2.6% of the 77 patients with a complete work-up. Positive family history appeared to be the only predictor for positive testing for congenital disorders (OR 14.9, 95% CI 1.9,113). The overall mortality rate was 20%. The cumulative recurrence-free survival was 92% after 1 year of follow-up, and 82% after 7 years. The incidence and severity of the post-thrombotic syndrome was analyzed in a subgroup of 33 patients with VTE of the lower extremities. Twenty-three (70%) patients developed PTS: moderate in three and mild in 20 patients. In conclusion, congenital prothrombotic disorders seem to play a role in the development of pediatric VTE, and the risk of complications of this disease is high. [source] Heparin-induced thrombocytopenia and warfarin-induced skin necrosis in a child with severe protein C deficiency: successful treatment with dermatan sulfate and protein C concentrateJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 2 2003L. Gatti No abstract is available for this article. [source] Laboratory tests for protein C deficiency,AMERICAN JOURNAL OF HEMATOLOGY, Issue 6 2010Bernard Khor Hereditary protein C deficiency is a hypercoagulable state associated with an increased risk for venous thrombosis. The recommended initial test for protein C is an activity (functional) assay, which may be clotting time based or chromogenic. The advantages and disadvantages of the various testing options are presented. The causes of acquired protein C deficiency are much more common than hereditary deficiency. Therefore, this article describes the appropriate steps to take when protein C activity is low, to confirm or exclude a hereditary deficiency. The causes of falsely normal results are also described, including lupus anticoagulants and direct thrombin inhibitors. Am. J. Hematol., 2010. © 2010 Wiley-Liss, Inc. [source] Recurrent Vasculopathic Skin Lesions Associated with Homozygous Protein C DeficiencyPEDIATRIC DERMATOLOGY, Issue 1 2007Pinar Isik Agras M.D. Vasculopathy associated with hypercoagulable state in protein C deficiency has also been reported rarely. We described a boy who was diagnosed as having homozygous protein C deficiency during the neonatal period, when he developed purpura fulminans. At 7 years of age, he developed recurrent, painful, nonscarring, purpuric skin lesions. Histopathologic skin findings were compatible with those of vasculopathy. The histopathologic characteristics of these vasculopathic lesions and the pathogenetic mechanisms of their association with protein C deficiency are discussed. [source] Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantationPEDIATRIC TRANSPLANTATION, Issue 2 2009Mee Jeong Lee Abstract:, Homozygous protein C deficiency is an autosomal recessive disorder often presenting with purpura fulminans. Fresh frozen plasma and oral anticoagulation have been used in the treatment of this disease. Lately, protein C concentrate has become the treatment of choice. However, protein C concentrate is not yet widely available in many countries. We report a six-month-old girl with homozygous protein C deficiency who had suffered from frequent thrombotic episodes. She was successfully treated with living donor liver transplantation. Eight years after the transplantation, she remains symptom free. As described here, the liver transplantation offers an alternative curative treatment for children with homozygous protein C deficiency. [source] Heparin-induced skin necrosis associated with thrombocytopenia and acquired protein C and protein S deficiencyAMERICAN JOURNAL OF HEMATOLOGY, Issue 12 2007H. Keshava Prasad We have described a patient with colon cancer and liver metastases who developed heparin-induced thrombocytopenia and skin necrosis. We believe that the skin necrosis caused by the heparin/platelet factor 4 antibody was exacerbated by the acquired protein C and protein S deficiency. After the heparin was discontinued and infection treated, the skin necrosis and thrombocytopenia resolved. This case illustrates the fact that, in patients with heparin-induced skin necrosis, a search must be undertaken for an underlying pro-thrombotic state, which may precipitate the microthrombosis responsible for skin necrosis. We could not find any previous case reports of heparin-induced skin necrosis associated with isolated protein C deficiency, or combined protein C and protein S deficiency. Am. J. Hematol., 2007. © 2007 Wiley-Liss, Inc. [source] Roles of lipid-soluble vitamins during ontogeny of marine fish larvaeAQUACULTURE RESEARCH, Issue 5 2010Kristin Hamre Abstract The roles of lipid-soluble vitamins during ontogeny of marine fish larvae are a subject topic where only fragments of the whole picture are known. Most of the research has been focussed on the larval requirements and the availability of these vitamins in the live feed organisms used for early-stage larvae, while the function of the vitamins in the larvae themselves is largely unknown. Our knowledge is mostly extrapolated from research on other vertebrates and also in part from juvenile and adult fish. Vitamin A is known to be essential for establishing body and organ axes in vertebrate embryos and interacts with other nutrients such as vitamin D and fatty acids through the steroid/thyroid nuclear hormone receptor family. In marine fish larvae, excess vitamin A stimulates pigmentation, but at the same time induces vertebral deformities. Live feed organisms contain very little vitamin A but marine fish larvae appear to convert carotenoids in Artemia and copepods to vitamin A, while rotifers, which contain little carotenoids, should be enriched with vitamin A. Vitamin E acts as an antioxidant and is important for the protection of marine fish larvae against the oxidation pressure probably present in intensive rearing systems. Vitamin E may also have other roles connected to its modulation of cell and tissue red-ox balance. In marine fish larvae and juveniles, vitamin E has been shown to enhance the symptoms of vitamin C deficiency, while protecting against the oxidative effect of n-3 fatty acids. Vitamin D is important for the modulation of calcium and phosphorus homeostasis and for the development of the vertebrate skeleton. Vitamin K influences bone development and coagulation of the blood. There is little information on vitamins D and K connected to the ontogeny of marine fish larvae. [source] Changes in the plasma activities of protein C and protein S during pregnancyAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 4 2000Semra Oruç Summary: The objective of the study was to determine the changes in the plasma activities of protein C and protein S that occur during normal pregnancy. In this prospective cross-sectional study, plasma activities of protein C and protein S were measured in 32 normal pregnant women in the first, second and third trimester and 6 weeks after delivery. There was a significant fall in protein C and protein S activities during normal pregnancy compared with the post-puerperal period. The activities of protein C and protein S also gradually decreased through-out pregnancy (p < 0.01). Increasing plasma volume during normal pregnancy and its dilutional effect might play some role in the low activities of protein S observed. The normal falls in protein S and protein C activities make it difficult to diagnose protein S and C deficiency during pregnancy. Based on our findings, if a woman has a thromboembolic event during pregnancy, testing for a definitive diagnosis of protein C or protein S deficiency or functional failure should be delayed until at least 6 weeks postpartum. [source] Role of Marginal Vitamin C Deficiency in Atherogenesis: In Vivo Models and Clinical StudiesBASIC AND CLINICAL PHARMACOLOGY & TOXICOLOGY, Issue 6 2009Henriette Frikke-Schmidt Naturally, vitamin C has been the subject of many investigations over the past decades in relation to its possible beneficial effects on cardiovascular disease primarily based on its powerful yet general antioxidant properties. However, growing epidemiological, clinical and experimental evidence now suggests a more specific role of ascorbate in vasomotion and in the prevention of atherosclerosis. For example, in contrast to most other biological antioxidants, administration of vitamin C can apparently induce vasodilation. Millions of people worldwide can be diagnosed with vitamin C deficiency according to accepted definitions. In this perspective, the present review examines the evidence for a specific link between vitamin C deficiency and increased risk of atherosclerosis as well as the possible mechanisms by which vitamin C may exert its protective function. [source] A case of purpura fulminans is caused by homozygous ,8857 mutation (protein C-Nagoya) and successfully treated with activated protein C concentrateBRITISH JOURNAL OF HAEMATOLOGY, Issue 3 2000Takayuki Nakayama We report a Japanese patient who developed purpura fulminans and disseminated intravascular coagulation (DIC) shortly after birth. The patient was diagnosed to be homozygous for protein C deficiency and was treated with an activated protein C (APC) concentrate. Intravenous infusions of APC markedly improved the necrotic skin lesions and the anticoagulation by APC enabled successful DIC control. The identified mutation (,8857) results in impaired intracellular transport and protein maturation and would be the cause of the complete protein C deficiency. This is the seventh case of the mutation that has been exclusively reported in Japan, but is the first report of a homozygous case. Our findings propose new therapeutic and diagnostic tools for the management of this fatal thrombotic disease. [source] Acute scurvy during treatment with interleukin-2CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 7 2009D. T. Alexandrescu Summary The association of vitamin C deficiency with nutritional factors is commonly recognized. However, an acute form of scurvy can occur in patients with an acute systemic inflammatory response, which is produced by sepsis, medications, cancer or acute inflammation. The frequency of acute hypovitaminosis C in hospitalized patients is higher than previously recognized. We report the occurrence of acute signs and symptoms of scurvy (perifollicular petechiae, erythema, gingivitis and bleeding) in a patient hospitalized for treatment of metastatic renal-cell carcinoma with high-dose interleukin-2. Concomitantly, serum vitamin C levels decreased to below normal. Better diets and longer lifespan may result a lower frequency of acute scurvy and a higher frequency of scurvy associated with systemic inflammatory responses. Therefore, increased awareness of this condition can lead to early recognition of the cutaneous signs of acute scurvy in hospitalized patients with acute illnesses or in receipt of biological agents, and prevent subsequent morbidity such as bleeding, anaemia, impaired immune defences, oedema or neurological symptoms. [source] | ||||||||||||||||||||||||||||