Protein C Deficiency
Protein C
Ascorbic Acid Deficiency
Factor V Deficiency
Scurvy
Blood Coagulation Disorders
Purpura Fulminans
Protein S
Thrombophilia
Prothrombin
Factor V
Antithrombin III Deficiency
Vermont
Pedigree
L-Gulonolactone Oxidase
Protein S Deficiency
Protein C Inhibitor
Ascorbic Acid
Thromboembolism
Heterozygote
Point Mutation
Saposins
Mutation
Activated Protein C Resistance
Cerebral Infarction
Recurring myocardial infarction in a 35 year old woman. (1/137)
A 35 year old woman presented with acute myocardial infarction without any of the usual risk factors: she had never smoked; she had normal blood pressure; she did not have diabetes; plasma concentrations of total cholesterol and high and low density lipoprotein cholesterol, fibrinogen, homocysteine, and Lp(a) lipoprotein were normal. She was not taking oral contraceptives or any other medication. Coronary angiography showed occlusion of the left anterior descending coronary artery but no evidence of arteriosclerosis. Medical history disclosed a previous leg vein thrombosis with pulmonary embolism. Coagulation analysis revealed protein C deficiency. The recognition of protein C deficiency as a risk factor for myocardial infarction is important as anticoagulation prevents further thrombotic events, whereas inhibitors of platelet aggregation are ineffective. (+info)Thrombophilia as a multigenic disease. (2/137)
BACKGROUND AND OBJECTIVE: Venous thrombosis is a common disease annually affecting 1 in 1000 individuals. The multifactorial nature of the disease is illustrated by the frequent identification of one or more predisposing genetic and/or environmental risk factors in thrombosis patients. Most of the genetic defects known today affect the function of the natural anticoagulant pathways and in particular the protein C system. This presentation focuses on the importance of the genetic factors in the pathogenesis of inherited thrombophilia with particular emphasis on those defects which affect the protein C system. INFORMATION SOURCES: Published results in articles covered by the Medline database have been integrated with our original studies in the field of thrombophilia. STATE OF THE ART AND PERSPECTIVES: The risk of venous thrombosis is increased when the hemostatic balance between pro- and anti-coagulant forces is shifted in favor of coagulation. When this is caused by an inherited defect, the resulting hypercoagulable state is a lifelong risk factor for thrombosis. Resistance to activated protein C (APC resistance) is the most common inherited hypercoagulable state found to be associated with venous thrombosis. It is caused by a single point mutation in the factor V (FV) gene, which predicts the substitution of Arg506 with a Gln. Arg506 is one of three APC-cleavage sites and the mutation results in the loss of this APC-cleavage site. The mutation is only found in Caucasians but the prevalence of the mutant FV allele (FV:Q506) varies between countries. It is found to be highly prevalent (up to 15%) in Scandinavian populations, in areas with high incidence of thrombosis. FV:Q506 is associated with a 5-10-fold increased risk of thrombosis and is found in 20-60% of Caucasian patients with thrombosis. The second most common inherited risk factor for thrombosis is a point mutation (G20210A) in the 3' untranslated region of the prothrombin gene. This mutation is present in approximately 2% of healthy individuals and in 6-7% of thrombosis patients, suggesting it to be a mild risk factor of thrombosis. Other less common genetic risk factors for thrombosis are the deficiencies of natural anticoagulant proteins such as antithrombin, protein C or protein S. Such defects are present in less than 1% of healthy individuals and together they account for 5-10% of genetic defects found in patients with venous thrombosis. Owing to the high prevalence of inherited APC resistance (FV:Q506) and of the G20210A mutation in the prothrombin gene, combinations of genetic defects are relatively common in the general population. As each genetic defect is an independent risk factor for thrombosis, individuals with multiple defects have a highly increased risk of thrombosis. As a consequence, multiple defects are often found in patients with thrombosis. (+info)Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: a multicenter collaborative family study. (3/137)
Deficiencies of antithrombin (AT), protein C (PC) or protein S (PS), and activated protein C resistance (APCR) are very well-established coagulation defects predisposing to venous thromboembolism (VTE). We performed a retrospective cohort family study to assess the risk for VTE in individuals with AT, PC, or PS deficiency, or APCR. Five hundred thirteen relatives from 9 Italian centers were selected from 233 families in which the proband had had at least 1 episode of VTE. We calculated the incidence of VTE in the whole cohort and in the subgroups after stratification by age, sex, and defect. The overall incidence of VTE (per 100 patient-years) in the group of relatives was 0.52. It was 1.07 for AT, 0.54 for PC, 0.50 for PS, 0.30 for APCR, and 0.67 in the group with a double defect. The incidence was associated with age, but not with sex. The mean age at onset was between 30 and 40 years for all the coagulation defects. Women had the peak of incidence in the age range of 21 to 40 years, earlier than men. The lifetime risk for VTE was 4.4 for AT versus APCR, 2.6 for AT versus PS, 2.2 for AT versus PC, 1.9 for PC versus APCR, and 1.6 for PS versus APCR. AT deficiency seems to have a higher risk for VTE than the other genetic defects. There is a relation between age and occurrence of thrombosis for both men and women. The latter had the peak of incidence earlier than the former. (+info)A molecular model of a point mutation (Val297Met) in the serine protease domain of protein C. (4/137)
A heterozygous GTG to ATG (Val297Met) mutation was detected in a patient with inherited protein C deficiency and deep vein thrombosis. Cosegregation of the mutation with protein C deficiency was observed through a family pedigree study. Molecular models of the serine protease domains of wild type and mutant protein C were constructed by standard comparative method. Val 297 was found to be located in the hydrophobic core of the protein. Although the substitution of Met for Val does not greatly alter the hydrophobicity of the protein, it introduces a bulkier side chain, which yields steric hindrance between this residue and adjacent residues, such as Met364, Tyr393, Ile321, Ile323, and Val378. It seems that the Met can not fit into the tight packing into which it is trapped, thereby probably inducing misfolding and/or greater instability of the protein. Such misfolding and/or instability thereby eventually disturbs the catalytic triad, in consistent with the observed type I deficiency state. (+info)Haemostatic and metabolic abnormalities in women with unexplained recurrent abortion. (5/137)
The objective of this study was to establish whether or not patients with unexplained recurrent abortion have an increased incidence of haemostatic or metabolic abnormalities. Fifty-two patients with a history of unexplained habitual abortion (two or more spontaneous abortions before 16 weeks' gestation) were tested for protein S, protein C and antithrombin (AT) III deficiency, activated protein C (aPC) resistance, hyperhomocysteinaemia and anticardiolipin antibodies (ACA). The control group consisted of 67 healthy women with a history of only uncomplicated pregnancies. Blood samples were taken for measuring protein S, protein C, AT III, ACA and activated protein C resistance and a methionine loading test was performed. Of the 46 patients tested for protein S deficiency, 8 (17.4%) were positive. Of the 43 patients tested, two (4.7%) were protein C deficient and none was AT III deficient. Of the 42 patients tested for ACA, eight (19.1%) had detectable antibodies. Of the 44 patients tested for aPC resistance, two (4.6%) were positive. Finally, 35 patients were tested for hyperhomocysteinaemia and six (17.1%) were positive. It was concluded that parous women with a history of unexplained recurrent abortion have an increased incidence of hyperhomocysteinaemia and a trend of increased incidence of ACA can be found. (+info)Mesenteric infarction due to combined protein C deficiency and prothrombin 20210 defects. (6/137)
The prothrombin gene mutation, 20210A, a guanine to adenine substitution at nucleotide position 20210, has recently been described as an additional risk factor for venous thromboembolic disease. We describe the case of a patient with combined heterozygous prothrombin 20210A mutation and type 1 protein C deficiency who presented with massive mesenteric venous infarction of his small bowel and survived following the use of protein C concentrate and extensive small bowel resection. (+info)The incidence of venous thromboembolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S: a prospective cohort study. (7/137)
Deficiencies of antithrombin, protein C, and protein S are associated with an increased risk of venous thromboembolism. The objective of this study was to prospectively assess the incidence of venous thromboembolism in nontreated asymptomatic subjects with such a deficiency. We conducted a prospective cohort study in asymptomatic family members of unselected patients who presented with a venous thromboembolic event and who were found to have a deficiency of antithrombin, protein C, or protein S. No anticoagulant prophylaxis was given to the study participants, except during risk periods for venous thromboembolism. All venous thromboembolic events were diagnosed by objective diagnostic tests. A total of 208 individuals with a mean age of 37 years (range, 15 to 79) were included in the study. A total of 611 patient observation years was obtained. Nine venous thromboembolic events occurred, resulting in an annual incidence of 1.5% (95% confidence interval [CI], 0.7 to 2.8) for the 3 deficiencies combined. Five of these events occurred spontaneously, resulting in an annual incidence of spontaneous venous thromboembolism of 0.8% (95% CI, 0.3 to 1.9). For antithrombin, protein C, and protein S deficiencies separately, this figure was 1.6%, 1.0%, and 0.4%, respectively. Thirty-four subjects experienced a total of 40 risk periods during which 4 venous thromboembolic events occurred (10% per risk period). We conclude that the use of continuous anticoagulant prophylaxis seems not warranted in asymptomatic individuals with a deficiency of antithrombin, protein C, or protein S. During risk periods for venous thromboembolism, adequate anticoagulant prophylaxis is necessary. (+info)Deficiency of natural anticoagulant proteins C, S, and antithrombin in portal vein thrombosis: a secondary phenomenon? (8/137)
BACKGROUND: Hereditary deficiencies of natural anticoagulant proteins are implicated in the pathogenesis of portal vein thrombosis (PVT). Secondary deficiencies of these proteins have also been reported in PVT, making interpretation of concentrations difficult. AIMS: To characterise the coagulation profiles in adult patients with PVT and to investigate the possible mechanisms of natural anticoagulant protein deficiency. PATIENTS: Twenty nine adult patients with portal hypertension caused by PVT, and normal biochemical liver function tests. METHODS: Routine coagulation profiles and concentrations of proteins C, S, and antithrombin were measured; where indicated, corresponding concentrations in parents were also measured. Synchronous peripheral and hepatic or splenic vein concentrations were compared in seven patients undergoing interventional procedures, as were peripheral concentrations before and after shunt surgery in three patients. RESULTS: Deficiencies of one or more of the natural anticoagulant proteins occurred in 18 patients (62%), with six patients having combined deficiency of all three proteins. There were strong correlations between prothrombin and partial thromboplastin time ratios and concentrations of natural anticoagulant proteins. Family studies in nine cases of anticoagulant protein deficiency revealed possible hereditary deficiency in only three cases, and significantly lower concentrations of anticoagulant proteins in all PVT cases compared with parents. Levels of anticoagulant proteins tended to be lower in hepatic veins but higher in splenic veins compared with peripheral vein concentrations. Peripheral concentrations decreased after shunt surgery. CONCLUSIONS: Deficiency of natural anticoagulant proteins is common in PVT and is probably a secondary phenomenon in most cases, occurring as part of a global disturbance of coagulation variables. The mechanism for this remains unclear but may result from a combination of reduced hepatic blood flow and portosystemic shunting itself. (+info)Protein C deficiency is a genetic disorder that affects the body's ability to control blood clotting. Protein C is a protein in the blood that helps regulate the formation of blood clots. When blood clots form too easily or do not dissolve properly, they can block blood vessels and lead to serious medical conditions such as deep vein thrombosis (DVT) or pulmonary embolism (PE).
People with protein C deficiency have lower than normal levels of this protein in their blood, which can increase their risk of developing abnormal blood clots. The condition is usually inherited and present from birth, but it may not cause any symptoms until later in life, such as during pregnancy, after surgery, or due to other factors that increase the risk of blood clots.
Protein C deficiency can be classified into two types: type I and type II. Type I deficiency is characterized by lower than normal levels of both functional and immunoreactive protein C in the blood. Type II deficiency is characterized by normal or near-normal levels of immunoreactive protein C, but reduced functional activity.
Protein C deficiency can be diagnosed through blood tests that measure the level and function of protein C in the blood. Treatment may include anticoagulant medications to prevent blood clots from forming or dissolve existing ones. Regular monitoring of protein C levels and careful management of risk factors for blood clots are also important parts of managing this condition.
Protein C is a vitamin K-dependent protease that functions as an important regulator of coagulation and inflammation. It is a plasma protein produced in the liver that, when activated, degrades clotting factors Va and VIIIa to limit thrombus formation and prevent excessive blood clotting. Protein C also has anti-inflammatory properties by inhibiting the release of pro-inflammatory cytokines and reducing endothelial cell activation. Inherited or acquired deficiencies in Protein C can lead to an increased risk of thrombosis, a condition characterized by abnormal blood clot formation within blood vessels.
Ascorbic acid deficiency is a condition that occurs when a person does not consume or absorb adequate amounts of ascorbic acid, also known as Vitamin C. This essential nutrient plays a crucial role in the production of collagen, a protein that helps to support blood vessel, tendon, ligament, and bone health. It is also involved in the absorption of iron and the synthesis of certain neurotransmitters.
Ascorbic acid deficiency can lead to a number of symptoms and complications. In its early stages, it may cause fatigue, weakness, and joint pain. As the deficiency progresses, it can lead to more serious conditions such as scurvy, a potentially life-threatening disease characterized by anemia, gum disease, skin hemorrhages, and poor wound healing.
Scurvy is now rare in developed countries where access to fresh fruits and vegetables, which are rich sources of vitamin C, is readily available. However, it can still occur in individuals who follow restrictive diets or have malabsorption disorders that prevent them from properly absorbing the nutrient. In these cases, supplementation with ascorbic acid may be necessary to prevent deficiency and its associated complications.
Factor V deficiency is a rare bleeding disorder that is caused by a mutation in the gene that produces coagulation factor V, a protein involved in the clotting process. This condition can lead to excessive bleeding following injury or surgery, and may also cause menorrhagia (heavy menstrual periods) in women.
Factor V deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. People who inherit only one copy of the mutated gene are carriers and may have a milder form of the disorder or no symptoms at all.
Treatment for factor V deficiency typically involves replacement therapy with fresh frozen plasma or clotting factor concentrates, which can help to reduce bleeding episodes and prevent complications. In some cases, medications such as desmopressin or antifibrinolytics may also be used to manage the condition.
Scurvy is a medical condition caused by a deficiency of vitamin C (ascorbic acid) in the diet, which leads to the breakdown of collagen. This results in various symptoms such as anemia, gum disease, and skin hemorrhages. In severe cases, it can lead to death. It was prevalent among sailors during long voyages before the 18th century when fresh fruits and vegetables were not available, and the condition was eventually linked to the lack of vitamin C in their diet. Nowadays, scurvy is rare in developed countries but can still occur in individuals with extreme diets deficient in vitamin C.
Blood coagulation disorders, also known as bleeding disorders or clotting disorders, refer to a group of medical conditions that affect the body's ability to form blood clots properly. Normally, when a blood vessel is injured, the body's coagulation system works to form a clot to stop the bleeding and promote healing.
In blood coagulation disorders, there can be either an increased tendency to bleed due to problems with the formation of clots (hemorrhagic disorder), or an increased tendency for clots to form inappropriately even without injury, leading to blockages in the blood vessels (thrombotic disorder).
Examples of hemorrhagic disorders include:
1. Hemophilia - a genetic disorder that affects the ability to form clots due to deficiencies in clotting factors VIII or IX.
2. Von Willebrand disease - another genetic disorder caused by a deficiency or abnormality of the von Willebrand factor, which helps platelets stick together to form a clot.
3. Liver diseases - can lead to decreased production of coagulation factors, increasing the risk of bleeding.
4. Disseminated intravascular coagulation (DIC) - a serious condition where clotting and bleeding occur simultaneously due to widespread activation of the coagulation system.
Examples of thrombotic disorders include:
1. Factor V Leiden mutation - a genetic disorder that increases the risk of inappropriate blood clot formation.
2. Antithrombin III deficiency - a genetic disorder that impairs the body's ability to break down clots, increasing the risk of thrombosis.
3. Protein C or S deficiencies - genetic disorders that lead to an increased risk of thrombosis due to impaired regulation of the coagulation system.
4. Antiphospholipid syndrome (APS) - an autoimmune disorder where the body produces antibodies against its own clotting factors, increasing the risk of thrombosis.
Treatment for blood coagulation disorders depends on the specific diagnosis and may include medications to manage bleeding or prevent clots, as well as lifestyle changes and monitoring to reduce the risk of complications.
Purpura fulminans is a severe, life-threatening condition characterized by the rapid progression of hemorrhagic purpura (discoloration of the skin due to bleeding under the skin) and disseminated intravascular coagulation (DIC), leading to thrombosis and necrosis of the skin and underlying tissues. It can be classified into two types: acute infectious purpura fulminans, which is caused by bacterial infections such as meningococcus or pneumococcus; and chronic purpura fulminans, which is associated with autoimmune disorders or protein C or S deficiencies. The condition can lead to serious complications such as sepsis, organ failure, and death if not promptly diagnosed and treated.
Protein S is a vitamin K-dependent protein found in the blood that functions as a natural anticoagulant. It plays a crucial role in regulating the body's clotting system by inhibiting the activation of coagulation factors, thereby preventing excessive blood clotting. Protein S also acts as a cofactor for activated protein C, which is another important anticoagulant protein.
Protein S exists in two forms: free and bound to a protein called C4b-binding protein (C4BP). Only the free form of Protein S has biological activity in inhibiting coagulation. Inherited or acquired deficiencies in Protein S can lead to an increased risk of thrombosis, or abnormal blood clot formation, which can cause various medical conditions such as deep vein thrombosis (DVT) and pulmonary embolism (PE). Regular monitoring of Protein S levels is essential for patients with a history of thrombotic events or those who have a family history of thrombophilia.
Thrombophlebitis is a medical condition characterized by the inflammation and clotting of blood in a vein, usually in the legs. The term thrombophlebitis comes from two words: "thrombo" which means blood clot, and "phlebitis" which refers to inflammation of the vein.
The condition can occur in superficial or deep veins. Superficial thrombophlebitis affects the veins just below the skin's surface, while deep vein thrombophlebitis (DVT) occurs in the deeper veins. DVT is a more serious condition as it can lead to complications such as pulmonary embolism if the blood clot breaks off and travels to the lungs.
Symptoms of thrombophlebitis may include redness, warmth, pain, swelling, or discomfort in the affected area. In some cases, there may be visible surface veins that are hard, tender, or ropy to touch. If left untreated, thrombophlebitis can lead to chronic venous insufficiency and other long-term complications. Treatment typically involves medications such as anticoagulants, antiplatelet agents, or thrombolytics, along with compression stockings and other supportive measures.
Thrombophilia is a medical condition characterized by an increased tendency to form blood clots (thrombi) due to various genetic or acquired abnormalities in the coagulation system. These abnormalities can lead to a hypercoagulable state, which can cause thrombosis in both veins and arteries. Commonly identified thrombophilias include factor V Leiden mutation, prothrombin G20210A mutation, antithrombin deficiency, protein C deficiency, and protein S deficiency.
Acquired thrombophilias can be caused by various factors such as antiphospholipid antibody syndrome (APS), malignancies, pregnancy, oral contraceptive use, hormone replacement therapy, and certain medical conditions like inflammatory bowel disease or nephrotic syndrome.
It is essential to diagnose thrombophilia accurately, as it may influence the management of venous thromboembolism (VTE) events and guide decisions regarding prophylactic anticoagulation in high-risk situations.
Prothrombin is a protein present in blood plasma, and it's also known as coagulation factor II. It plays a crucial role in the coagulation cascade, which is a complex series of reactions that leads to the formation of a blood clot.
When an injury occurs, the coagulation cascade is initiated to prevent excessive blood loss. Prothrombin is converted into its active form, thrombin, by another factor called factor Xa in the presence of calcium ions, phospholipids, and factor Va. Thrombin then catalyzes the conversion of fibrinogen into fibrin, forming a stable clot.
Prothrombin levels can be measured through a blood test, which is often used to diagnose or monitor conditions related to bleeding or coagulation disorders, such as liver disease or vitamin K deficiency.
Factor V, also known as proaccelerin or labile factor, is a protein involved in the coagulation cascade, which is a series of chemical reactions that leads to the formation of a blood clot. Factor V acts as a cofactor for the activation of Factor X to Factor Xa, which is a critical step in the coagulation cascade.
When blood vessels are damaged, the coagulation cascade is initiated to prevent excessive bleeding. During this process, Factor V is activated by thrombin, another protein involved in coagulation, and then forms a complex with activated Factor X and calcium ions on the surface of platelets or other cells. This complex converts prothrombin to thrombin, which then converts fibrinogen to fibrin to form a stable clot.
Deficiency or dysfunction of Factor V can lead to bleeding disorders such as hemophilia B or factor V deficiency, while mutations in the gene encoding Factor V can increase the risk of thrombosis, as seen in the Factor V Leiden mutation.
Antithrombin III (ATIII) deficiency is a genetic disorder that affects the body's ability to regulate blood clotting. ATIII is a protein produced in the liver that inhibits the activity of thrombin and other coagulation factors, preventing excessive clot formation.
People with ATIII deficiency have lower than normal levels of this protein, which can lead to an increased risk of developing abnormal blood clots (thrombosis) in veins, particularly deep vein thrombosis (DVT) and pulmonary embolism (PE). These clots can cause serious complications, including damage to the affected veins, organ damage, and even death.
ATIII deficiency can be classified into two types: type I and type II. Type I is characterized by a quantitative decrease in ATIII levels, while type II is characterized by a qualitative defect that results in reduced functional activity of the protein.
The condition is usually inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the gene mutation from an affected parent. However, some cases may occur spontaneously due to new mutations in the ATIII gene. Treatment for ATIII deficiency typically involves anticoagulation therapy with medications such as heparin or warfarin to prevent blood clots from forming.
I'm sorry for any confusion, but "Vermont" is not a medical term. It is a geographical location, being the name of a state in the United States. If you have any questions about medical conditions or terminology, I would be happy to try and help answer those!
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
L-Gulonolactone oxidase is a human gene that encodes for the enzyme L-gulonolactone oxidase, which is involved in the synthesis of ascorbic acid (vitamin C) in many animals. However, this gene is believed to be nonfunctional in humans due to multiple mutations, and therefore, humans are unable to synthesize vitamin C endogenously. Instead, humans must obtain vitamin C through their diet.
Thrombosis is the formation of a blood clot (thrombus) inside a blood vessel, obstructing the flow of blood through the circulatory system. When a clot forms in an artery, it can cut off the supply of oxygen and nutrients to the tissues served by that artery, leading to damage or tissue death. If a thrombus forms in the heart, it can cause a heart attack. If a thrombus breaks off and travels through the bloodstream, it can lodge in a smaller vessel, causing blockage and potentially leading to damage in the organ that the vessel supplies. This is known as an embolism.
Thrombosis can occur due to various factors such as injury to the blood vessel wall, abnormalities in blood flow, or changes in the composition of the blood. Certain medical conditions, medications, and lifestyle factors can increase the risk of thrombosis. Treatment typically involves anticoagulant or thrombolytic therapy to dissolve or prevent further growth of the clot, as well as addressing any underlying causes.
Protein S deficiency is a genetic disorder that affects the body's ability to coagulate blood properly. Protein S is a naturally occurring protein in the blood that helps regulate the clotting process by deactivating clotting factors when they are no longer needed. When Protein S levels are too low, it can lead to an increased risk of abnormal blood clots forming within blood vessels, a condition known as thrombophilia.
There are three types of Protein S deficiency: Type I (quantitative deficiency), Type II (qualitative deficiency), and Type III (dysfunctional protein). These types refer to the amount or function of Protein S in the blood. In Type I, there is a decrease in both free and total Protein S levels. In Type II, there is a decrease in functional Protein S despite normal total Protein S levels. In Type III, there is a decrease in free Protein S with normal total Protein S levels.
Protein S deficiency can be inherited or acquired. Inherited forms of the disorder are caused by genetic mutations and are usually present from birth. Acquired forms of Protein S deficiency can develop later in life due to certain medical conditions, such as liver disease, vitamin K deficiency, or the use of certain medications that affect blood clotting.
Symptoms of Protein S deficiency may include recurrent blood clots, usually in the legs (deep vein thrombosis) or lungs (pulmonary embolism), skin discoloration, pain, and swelling in the affected area. In severe cases, it can lead to complications such as chronic leg ulcers, pulmonary hypertension, or damage to the heart or lungs.
Diagnosis of Protein S deficiency typically involves blood tests to measure Protein S levels and function. Treatment may include anticoagulant medications to prevent blood clots from forming or growing larger. Lifestyle modifications such as regular exercise, maintaining a healthy weight, and avoiding smoking can also help reduce the risk of blood clots in people with Protein S deficiency.
Protein C inhibitor is a natural anticoagulant protein found in the blood. It plays a crucial role in regulating the coagulation system by controlling the activity of activated protein C, which is a key enzyme that helps to break down clots and prevent excessive bleeding. Protein C inhibitor works by binding to and inhibiting the activity of activated protein C, thereby ensuring that the coagulation process is balanced and that clots are formed only when necessary.
Inherited or acquired deficiencies in protein C inhibitor can lead to an increased risk of thrombosis or abnormal blood clotting, which can cause serious health complications such as deep vein thrombosis (DVT), pulmonary embolism (PE), and disseminated intravascular coagulation (DIC). Therefore, protein C inhibitor is an essential component of the coagulation system and its activity is tightly regulated to maintain normal hemostasis.
Ascorbic acid is the chemical name for Vitamin C. It is a water-soluble vitamin that is essential for human health. Ascorbic acid is required for the synthesis of collagen, a protein that plays a role in the structure of bones, tendons, ligaments, and blood vessels. It also functions as an antioxidant, helping to protect cells from damage caused by free radicals.
Ascorbic acid cannot be produced by the human body and must be obtained through diet or supplementation. Good food sources of vitamin C include citrus fruits, strawberries, bell peppers, broccoli, and spinach.
In the medical field, ascorbic acid is used to treat or prevent vitamin C deficiency and related conditions, such as scurvy. It may also be used in the treatment of various other health conditions, including common cold, cancer, and cardiovascular disease, although its effectiveness for these uses is still a matter of scientific debate.
Thromboembolism is a medical condition that refers to the obstruction of a blood vessel by a thrombus (blood clot) that has formed elsewhere in the body and then been transported by the bloodstream to a narrower vessel, where it becomes lodged. This process can occur in various parts of the body, leading to different types of thromboembolisms:
1. Deep Vein Thrombosis (DVT): A thrombus forms in the deep veins, usually in the legs or pelvis, and then breaks off and travels to the lungs, causing a pulmonary embolism.
2. Pulmonary Embolism (PE): A thrombus formed elsewhere, often in the deep veins of the legs, dislodges and travels to the lungs, blocking one or more pulmonary arteries. This can lead to shortness of breath, chest pain, and potentially life-threatening complications if not treated promptly.
3. Cerebral Embolism: A thrombus formed in another part of the body, such as the heart or carotid artery, dislodges and travels to the brain, causing a stroke or transient ischemic attack (TIA).
4. Arterial Thromboembolism: A thrombus forms in an artery and breaks off, traveling to another part of the body and blocking blood flow to an organ or tissue, leading to potential damage or loss of function. Examples include mesenteric ischemia (intestinal damage due to blocked blood flow) and retinal artery occlusion (vision loss due to blocked blood flow in the eye).
Prevention, early detection, and appropriate treatment are crucial for managing thromboembolism and reducing the risk of severe complications.
Venous thrombosis is a medical condition characterized by the formation of a blood clot (thrombus) in the deep veins, often in the legs (deep vein thrombosis or DVT), but it can also occur in other parts of the body such as the arms, pelvis, or lungs (pulmonary embolism).
The formation of a venous thrombus can be caused by various factors, including injury to the blood vessel wall, changes in blood flow, and alterations in the composition of the blood. These factors can lead to the activation of clotting factors and platelets, which can result in the formation of a clot that blocks the vein.
Symptoms of venous thrombosis may include swelling, pain, warmth, and redness in the affected area. In some cases, the clot can dislodge and travel to other parts of the body, causing potentially life-threatening complications such as pulmonary embolism.
Risk factors for venous thrombosis include advanced age, obesity, smoking, pregnancy, use of hormonal contraceptives or hormone replacement therapy, cancer, recent surgery or trauma, prolonged immobility, and a history of previous venous thromboembolism. Treatment typically involves the use of anticoagulant medications to prevent further clotting and dissolve existing clots.
A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.
Anticoagulants are a class of medications that work to prevent the formation of blood clots in the body. They do this by inhibiting the coagulation cascade, which is a series of chemical reactions that lead to the formation of a clot. Anticoagulants can be given orally, intravenously, or subcutaneously, depending on the specific drug and the individual patient's needs.
There are several different types of anticoagulants, including:
1. Heparin: This is a naturally occurring anticoagulant that is often used in hospitalized patients who require immediate anticoagulation. It works by activating an enzyme called antithrombin III, which inhibits the formation of clots.
2. Low molecular weight heparin (LMWH): LMWH is a form of heparin that has been broken down into smaller molecules. It has a longer half-life than standard heparin and can be given once or twice daily by subcutaneous injection.
3. Direct oral anticoagulants (DOACs): These are newer oral anticoagulants that work by directly inhibiting specific clotting factors in the coagulation cascade. Examples include apixaban, rivaroxaban, and dabigatran.
4. Vitamin K antagonists: These are older oral anticoagulants that work by inhibiting the action of vitamin K, which is necessary for the formation of clotting factors. Warfarin is an example of a vitamin K antagonist.
Anticoagulants are used to prevent and treat a variety of conditions, including deep vein thrombosis (DVT), pulmonary embolism (PE), atrial fibrillation, and prosthetic heart valve thrombosis. It is important to note that anticoagulants can increase the risk of bleeding, so they must be used with caution and regular monitoring of blood clotting times may be required.
A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.
Saposins are a group of naturally occurring lipid-binding proteins that play an essential role in the metabolism of lipids within cells. They are named after a skin disease called "Niemann-Pick disease," where defects in saposin function lead to an accumulation of lipids in various tissues, including the brain.
There are four types of saposins (SapA, SapB, SapC, and SapD) that are produced by the cleavage of a larger precursor protein called prosaposin. These proteins help to facilitate the breakdown of lipids in lysosomes, which are specialized organelles within cells that break down and recycle various materials.
Saposins play an important role in activating certain enzymes that are involved in breaking down lipids, such as sphingolipids and gangliosides. They do this by binding to these enzymes and presenting them with their lipid substrates in a way that allows the enzymes to efficiently break them down.
Defects in saposin function can lead to a variety of diseases, including Niemann-Pick disease, Gaucher disease, and Krabbe disease, which are characterized by an accumulation of lipids in various tissues and neurological symptoms.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
Activated Protein C (APC) resistance is a condition in which the body's natural anticoagulant system is impaired, leading to an increased risk of thrombosis or blood clot formation. APC is an enzyme that plays a crucial role in regulating blood coagulation by inactivating clotting factors Va and VIIIa.
APC resistance is most commonly caused by a genetic mutation in the Factor V gene, known as Factor V Leiden. This mutation results in the production of a variant form of Factor V called Factor V Leiden, which is resistant to APC-mediated inactivation. As a result, the body's ability to regulate blood clotting is impaired, leading to an increased risk of thrombosis.
APC resistance can be measured by performing a functional assay that compares the activity of APC in normal plasma versus plasma from a patient with suspected APC resistance. The assay measures the rate of inactivation of Factor Va by APC, and a reduced rate of inactivation indicates APC resistance.
It is important to note that not all individuals with APC resistance will develop thrombosis, and other factors such as age, obesity, pregnancy, oral contraceptive use, and smoking can increase the risk of thrombosis in individuals with APC resistance.
Cerebral infarction, also known as a "stroke" or "brain attack," is the sudden death of brain cells caused by the interruption of their blood supply. It is most commonly caused by a blockage in one of the blood vessels supplying the brain (an ischemic stroke), but can also result from a hemorrhage in or around the brain (a hemorrhagic stroke).
Ischemic strokes occur when a blood clot or other particle blocks a cerebral artery, cutting off blood flow to a part of the brain. The lack of oxygen and nutrients causes nearby brain cells to die. Hemorrhagic strokes occur when a weakened blood vessel ruptures, causing bleeding within or around the brain. This bleeding can put pressure on surrounding brain tissues, leading to cell death.
Symptoms of cerebral infarction depend on the location and extent of the affected brain tissue but may include sudden weakness or numbness in the face, arm, or leg; difficulty speaking or understanding speech; vision problems; loss of balance or coordination; and severe headache with no known cause. Immediate medical attention is crucial for proper diagnosis and treatment to minimize potential long-term damage or disability.
Protein C deficiency
Protein S deficiency
D-bifunctional protein deficiency
Mitochondrial trifunctional protein deficiency
Deficiency of RbAp48 protein and memory loss
LPS-responsive beige-like anchor protein deficiency
Biotin deficiency
CD55 deficiency
Nitrogen deficiency
M. G. Deo
Protein S
Pandurang Vasudeo Sukhatme
P14 deficiency
List of hematologic conditions
Vitamin D
Vitamin A deficiency
E3 binding protein
Francisco Xavier de Mendonça Furtado
Alan Berg (global nutrition advocate)
Amaurosis fugax
Sialin
James Beveridge Thomson
Michael J. Lenardo
MACPF
Coppermine expedition
Disaccharidase
Caspase-8 deficiency
CD63
Cartilage associated protein
Uromodulin
Protein S deficiency - About the Disease - Genetic and Rare Diseases Information Center
Protein C deficiency: MedlinePlus Genetics
Protein S Deficiency Differential Diagnoses
Protein C Deficiency Differential Diagnoses
Mitochondrial trifunctional protein deficiency: MedlinePlus Genetics
Protein C deficiency - PubMed
Protein C deficiency - Wikipedia
Protein: Sources, deficiency, and requirements
Estimated Effects of Future Atmospheric CO2 Concentrations on Protein Intake and the Risk of Protein Deficiency by Country and...
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation - PubMed
Protein C Deficiency - Hematology and Oncology - MSD Manual Professional Edition
Busting the Myth of Plant-Based Protein Deficiency
5 Protein Deficiency Symptoms & How To Recover | mindbodygreen
Ophthalmic manifestations of neonatal protein C deficiency. | British Journal of Ophthalmology
Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps.
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia,...
Acquired protein S deficiency. | Archives of Disease in Childhood
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel...
Protein S Deficiency | Profiles RNS
Manganese and iron deficiency in Southern Ocean Phaeocystis antarctica populations revealed through taxon-specific protein...
T-cell Intracellular Antigen (TIA)-Proteins Deficiency in Murine Embryonic Fibroblasts Alters Cell Cycle Progression and...
D-bifunctional protein deficiency | Myriad Foresight® Carrier Screen
Protein S Deficiency: Practice Essentials, Pathophysiology, Etiology
RFXAPbase: Regulatory factor X-associated protein deficiency | Main page
Inherited deficiencies of complement inhibitors | Protein Chemistry
Refubium - Characterization of Protein Kinase C Alpha Deficiency in a Mouse Model
Acylation-stimulating Protein (ASP)/Complement C3adesArg Deficiency Results in Increased Energy Expenditure in Mice*
Picture of a Nurse Standing with a Group of African Children Showing Symptoms of the Protein-Deficiency Disease Kwashiorkor | ...
Protein S Deficiency - InfiniGEEK
CDC Grand Rounds: Newborn Screening and Improved Outcomes
SIGNS OF PROTEIN DEFICIENCY1
- The first step is to determine your daily protein intake requirements and recognize any possible signs of protein deficiency. (hammernutrition.com)
Malnutrition4
- On that way, GMN Health Care had launched Pro360 Protein nutritional health drink to highlight the consistent growth and produce the best nutritional supplement for protein malnutrition. (vigorcolumn.com)
- We describe the potential roles of malnutrition and vitamin A deficiency as risk factors for severe measles in adults from this community. (cdc.gov)
- In severe protein-calorie malnutrition, and during intercurrent infection, serum retinol levels could be artificially low in relation to a decrease in retinol-binding protein level ( 9 ). (cdc.gov)
- Originality/value - Since malnutrition (e.g. iron-deficiency anemia, rickets, zinc deficiency, protein-calorie malnutrition) is common in sub-Saharan Africa, the information which is provided should increase awareness among agricultur al and public health officials of the nutritional value of seven underappreciated and underutilized ILVs that are indigenous to Ghana and many other parts of Africa. (cdc.gov)
Thrombosis9
- Cafolla A, D'Andrea G, Baldacci E, Margaglione M, Mazzucconi MG, Foa R. Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family. (medlineplus.gov)
- Protein C deficiency is a congenital or acquired condition that leads to increased risk for thrombosis. (medscape.com)
- This may explain, in part, why protein C deficiency appears to be associated primarily with venous thrombosis. (medscape.com)
- Individuals who are homozygous or compound heterozygous for a mutation or other genetic defect affecting the protein C, typically due to the inheritance of abnormal alleles from both parents, can experience neonatal purpura fulminans, intracranial thromboembolism, and thrombosis. (medscape.com)
- Because protein Z helps inactivate coagulation factor Xa , deficiency or dysfunction of protein Z predisposes to venous thrombosis (mainly in patients who also have other clotting abnormalities). (msdmanuals.com)
- Factor V Resistance to Activated Protein C (APC) Mutations of factor V make it resistant to its normal cleavage and inactivation by activated protein C, and they also predispose to venous thrombosis. (msdmanuals.com)
- Neonates with homozygous Protein C deficiency (Protein C levels close to zero) present with an often fatal syndrome of purpura fulminans with spreading skin necrosis, thrombosis and disseminated intravascular coagulation (DIC). (clinlabnavigator.com)
- Acquired Protein C deficiency may be seen in a wide variety of clinical situations including DIC, extensive thrombosis, liver disease, after surgery, and malignancy. (clinlabnavigator.com)
- An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. (globalgenes.org)
Heterozygous9
- Heterozygous protein C deficiency is inherited in an autosomal dominant fashion, however, in families with individuals with complete deficiency, the mode of inheritance is autosomal recessive. (medscape.com)
- Heterozygous individuals typically demonstrate protein C antigen and activity levels that are approximately one half that of normal patient plasma. (medscape.com)
- There is marked phenotypic variation among families with heterozygous type I protein C deficiency. (medscape.com)
- The majority of people with protein C deficiency lack only one copy of the functioning genes, and are therefore heterozygous. (wikipedia.org)
- Heterozygous PCD and mild deficiency can cause a wide range of symptom severity from asymptomatic to recurrent thromboses. (unboundmedicine.com)
- Most affected individuals are teenagers or young adults who are heterozygous for the deficiency. (clinlabnavigator.com)
- Affected heterozygous family members have Protein C levels between 40 and 65% of normal, associated with an increased incidence of thromboembolic disease (predominantly venous). (clinlabnavigator.com)
- It appears, however, that most subjects with heterozygous Protein C deficiency are asymptomatic. (clinlabnavigator.com)
- Female mice heterozygous for Ikk gamma/Nemo deficiency develop a unique dermatopathy characterized by keratinocyte hyperproliferation, skin inflammation, hyperkeratosis, and increased apoptosis. (nih.gov)
Homozygous protein C deficien2
- Before 1999, only sixteen cases of homozygous protein C deficiency had been described (two abnormal copies of the gene, leading to absence of functioning protein C in the bloodstream). (wikipedia.org)
- Homozygous protein C deficiency (where a person has two abnormal protein C genes, one from each parent) is usually evident in newborn infants. (ihtc.org)
Mitochondrial trifunctio5
- Mitochondrial trifunctional protein deficiency (MTPD), a rare condition that leads to failure of converting certain fats to energy is characterized by decreased activity of three enzymes in the enzyme complex. (trdizin.gov.tr)
- Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. (trdizin.gov.tr)
- Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. (trdizin.gov.tr)
- Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family. (trdizin.gov.tr)
- 2003). Genetic Heterogeneity of Mitochondrial Trifunctional Protein Deficiency See also MTPD2 (620300), caused by mutation in the HADHB gene, the beta subunit of the mitochondrial trifunctional protein. (nih.gov)
Purpura fulminans3
- In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. (medlineplus.gov)
- Neonatal purpura fulminans and transient protein C deficiency. (bmj.com)
- Some infants who do not have neonatal purpura fulminans but still have low levels of protein C (5% to 20%) often have a tendency to clot excessively at an early age. (ihtc.org)
Coagulation3
- citation needed] The main function of protein C is its anticoagulant property as an inhibitor of coagulation factors V and VIII. (wikipedia.org)
- Protein Z, a vitamin K-dependent protein, functions as a cofactor to down-regulate coagulation by forming a complex with the plasma protein, Z-dependent protease inhibitor (ZPI). (msdmanuals.com)
- Protein C is a vitamin K dependent plasma protein that inhibits coagulation. (clinlabnavigator.com)
Amount of protein10
- However, research has shown that losing weight by incorporating a nutritional diet with the right amount of protein can reduce the consequences of becoming severely ill from COVID-19. (progenmethod.com)
- By introducing the right amount of protein into our diet and nutrition intake, we can help maximize muscle mass which will further contribute to tackling the severity of COVID-19. (progenmethod.com)
- The right amount of protein contributes to a stronger body with better immunity and in these times will be crucial. (progenmethod.com)
- Various plant-based meat substitutes contain a substantial amount of protein. (justvegantoday.com)
- Therefore, any nutrition must include the correct amount of protein in order for the body to be assisted in its process of recovery from effort. (boxrox.com)
- So, if a person weight 120 pounds, the minimum amount of protein that that person can eat is 60 lbs. of protein. (circulatingnow.com)
- Without the right amount of protein, injuries, wounds, and infections would really take time to heal. (circulatingnow.com)
- Because most types of protein-rich food come from animal sources, hitting your recommended amount of protein each day can get tricky if you don't eat meat, poultry, dairy or eggs - but luckily, it's far from impossible. (sadecetech.com)
- According to the United States Department of Agriculture (USDA)'s current version of Dietary Guidelines for Americans, the recommended daily amount of protein to prevent deficiency is 0.8 grams per kilogram of body weight . (sadecetech.com)
- Findings - All seven ILVs contained a large amount of protein (15.5-22.8 percent), which compared favorably to the essential amino acid pattern of a WHO standard. (cdc.gov)
Deficient15
- [ 13 ] The presence of a second thrombophilic mutation such as factor V Leiden has been associated with a more severe phenotype in some protein C-deficient kindreds. (medscape.com)
- We alter the deficiency by infecting the SFTPB deficient iPSCs with a lentivirus carrying the wild type SFTPB gene. (nature.com)
- Before we get to the signs and symptoms, what makes a person protein deficient in the first place? (circulatingnow.com)
- This value is heightened especially in South Asia and Central Africa where 30 percent of children and young adults are protein deficient. (circulatingnow.com)
- Here are the signs and symptoms that tell you you might be protein deficient. (circulatingnow.com)
- It's not just timing and it's not the environment - it can be because you are protein deficient. (circulatingnow.com)
- Natalie Rizzo, MS, RD says that people who are protein deficient might have trouble pulling themselves to work out because of the lack of energy they are being supplied. (circulatingnow.com)
- That can be a sign that you are protein deficient. (circulatingnow.com)
- However, if it happens regularly and your brain won't allow you to think of anything else, then it can signify that you are becoming protein deficient. (circulatingnow.com)
- According to White, protein deficient-people also tend to crave savory foods more often than the usual. (circulatingnow.com)
- Throughout protein-deficient states, the physique will talk its want for meals by way of starvation cues. (dadelaon.com)
- Protein deficiency in India is more prevalent that it is known, with nearly 73% of urban Indians being protein deficient and about 93% are unaware about their daily protein requirements (IMRB 2017). (thechannel46.com)
- When the former two are deficient, the demand for the latter two amino acids will increase, resulting in the deficiency of phenylalanine and methionine. (arshinefeed.com)
- When poultry is deficient in protein and amino acids, its metabolism will be hindered, resulting in growth inhibition, reduced productivity, and reduced disease resistance. (arshinefeed.com)
- Most genes from the plant-specific family encoding Response to Low Sulphur (LSU)-like proteins are strongly induced in sulphur (S)-deficient conditions. (waw.pl)
Blood clotting1
- Widespread blood clotting uses up all available blood clotting proteins. (medlineplus.gov)
Severe protein C deficien3
- Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million newborns. (medlineplus.gov)
- Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency. (medlineplus.gov)
- Babies with severe protein C deficiency may experience symptoms within hours or days of their birth. (wikipedia.org)
Anticoagulant6
- A deficiency of aPC disturbs the delicate balance between procoagulant and anticoagulant proteins and engenders a prothrombotic environment. (medscape.com)
- The role of aPC and other anticoagulant proteins in this balance appears to be especially important in the slow-flowing venous circulation, in which procoagulant proteins and platelet phospholipids have prolonged exposure to the vessel wall. (medscape.com)
- It is not yet known whether anticoagulant therapy or prophylaxis is indicated in protein Z or ZPI deficiency. (msdmanuals.com)
- Protein C is a vitamin K dependent anticoagulant protein synthesized in an inactive form by the liver. (unboundmedicine.com)
- For Protein C to serve as an anticoagulant, it must be converted to its active form by thrombin. (clinlabnavigator.com)
- Since Protein C is a vitamin K dependent protein, decreased levels may be expected if a patient is on oral anticoagulant drug therapy. (clinlabnavigator.com)
Intake20
- It is essential that we focus on building a nutrition intake that widely focuses on protein as it is made of building blocks known as amino acids which are crucial for the growth of cells and tissues as well as their maintenance. (progenmethod.com)
- Deficiency leads to various health problems, while low protein intake may also be a concern, as it can cause subtle changes in your body over time. (bestmadenaturalproducts.com)
- Protein deficiency, also called hypoproteinemia, is usually tied to overall low protein intake. (bestmadenaturalproducts.com)
- Of course, as is the rule with a vegan diet, your protein intake requirements will vary upon the desired outcome. (justvegantoday.com)
- Some studies have even found an inverse relationship exists between protein intake and risk of heart disease. (boxrox.com)
- Currently, about one billion people throughout worldwide have chronic inadequate intake of essential protein on their daily diet. (vigorcolumn.com)
- For Kids, Pro360 scientifically formulated Pro360 Kids, an adequate nutritional protein intake to improve memory, boost immunity and overall growth and development of children. (vigorcolumn.com)
- For Pregnant and Lactating Mothers, Pro360 formulated a new protein supplement Pro360 Mom to fulfil inadequate protein intake during pregnancy and breastfeeding involving fetal development and reduces the risk of gestational diabetes. (vigorcolumn.com)
- While both of these grains are good sources of carbohydrates and fiber, quinoa is the better choice if you're aiming to increase your protein intake. (sadecetech.com)
- Incorporating vegan protein powder into your diet is a quick and easy way to crank up your protein intake - especially if you're in a rush to get moving in the morning. (sadecetech.com)
- By upping your intake of these amino acid-rich foods, you can get closer to hitting your daily protein goals. (sadecetech.com)
- Your baby relies on you for their protein needs, which is why new moms need to increase their protein intake. (thechannel46.com)
- To understand why protein isn't finding its place in the shopping carts of most Indian households, the Right to Protein initiative reached out to 2,142 Indian mothers, the primary decision-makers of a household's nutrition intake, across 16 cities in India for a survey conducted by commissioned research agency, Nielsen. (thechannel46.com)
- Poultry protein and amino acid deficiency refers to insufficient protein intake or excessive consumption of poultry and one or several amino acid deficiencies. (arshinefeed.com)
- the dietary energy level is high At this time, the poultry will reduce the feed intake by itself, and the protein and amino acid content of the feed must also be increased. (arshinefeed.com)
- 3. In the process of phlegm disease, the poultry's feed intake will be reduced, the appetite will be decreased or eliminated, and the protein intake will be insufficient. (arshinefeed.com)
- Ariboflavinosis is a nutritional deficiency occurring due to reduced intake of riboflavin through the diet. (ignouworld.com)
- Create a daily protein intake journal and monitor your eating habits over the course of a normal training week. (hammernutrition.com)
- If you're tired when you shouldn't be, inadequate protein intake could be to blame. (hammernutrition.com)
- If your dietary protein intake is inadequate, mood swings are a potential by-product. (hammernutrition.com)
Gene13
- Protein C deficiency is caused by mutations in the PROC gene. (medlineplus.gov)
- This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. (medlineplus.gov)
- Protein C deficiency can be divided into type I and type II based on how mutations in the PROC gene affect protein C. Type I is caused by PROC gene mutations that result in reduced levels of protein C, while type II is caused by PROC gene mutations that result in the production of an altered protein C with reduced activity. (medlineplus.gov)
- which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. (medlineplus.gov)
- [ 7 , 8 ] The gene for protein C is located on the long arm of chromosome 2 and nearly 200 pathogenic mutations of this gene have been described. (medscape.com)
- A range of causative genetic alterations within the protein C promoter region and splice sites as well as in the coding sequence of the protein C gene itself have been reported. (medscape.com)
- Type II protein C deficiency is less common than type I disease and is associated with decreased functional activity and normal immunologic levels of protein C. A number of point mutations within the protein C gene giving rise to this disorder have been described. (medscape.com)
- The human protein C gene (PROC) comprises 9 exons, and protein C deficiency has been linked to over 160 mutations to date. (wikipedia.org)
- The postsynaptic protein Shank3 (SH3 and multiple ankyrin repeat domains) is of particular interest, as the loss of a single allele of the SHANK3 gene is sufficient to cause profound cognitive symptoms in children. (jneurosci.org)
- If you grow up without that protein, it's not just a matter of throwing the gene back in. (reachmd.com)
- At least 270 genetic mutations have been described in the protein C (PROC) gene that can lead to a functional deficiency. (unboundmedicine.com)
- Blood findings showed low protein S antigen, low protein S activity, and a missense mutation of the PROS 1 gene. (elsevierpure.com)
- In this study, we discover a previously unknown type of SBD and identify its causal gene, TMEM53 , which encodes nuclear envelope transmembrane (NET) protein 53 (TMEM53, also known as NET4). (nature.com)
Enzymes6
- Proteins provide many essential functions for the body such as creating digestive enzymes, antibodies to support immune function, support and develop muscle movement, provide cellular generation for the body, and hormones to help coordinate bodily functions. (progenmethod.com)
- Protein is the building block of your muscles, skin, enzymes, and hormones, and it plays an essential role in all body tissues. (bestmadenaturalproducts.com)
- In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. (nih.gov)
- Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. (nih.gov)
- Protein: Any of a class of nitrogenous organic compounds which have large molecules composed of one or more long chains of amino acids and are an essential part of all living organisms, especially as structural components of body tissues such as muscle, hair, etc., and as enzymes and antibodies. (boxrox.com)
- Protein is essential in almost all body functions and is responsible for the structure and make-up of hair, skin, muscles, hormones, and enzymes. (circulatingnow.com)
Hereditary deficiency5
- A Protein C level of less than 55% is usually indicative of hereditary deficiency in a stable non-anticoagulated adult. (clinlabnavigator.com)
- A level of 55-65% may indicate either a low normal value or mild hereditary deficiency. (clinlabnavigator.com)
- In general, a diagnosis of hereditary deficiency of Protein C should only be made when a low value has been obtained after repeated testing (after a 4-6 week interval), and the possibility of acquired deficiency has been excluded. (clinlabnavigator.com)
- This may be particularly important in a patient who has a hereditary deficiency of one or both proteins. (medicalalgorithms.com)
- Testing for a hereditary deficiency of protein S or protein C should be delayed until after the patient has recovered from any of the above conditions or any of the above treatments have been discontinued. (medicalalgorithms.com)
Vitamin K-dependent5
- Protein C is a 62-kD, vitamin K-dependent glycoprotein synthesized in the liver. (medscape.com)
- The catalytic activity of aPC is greatly enhanced by the vitamin K-dependent cofactor protein S. (medscape.com)
- Protein C is vitamin K-dependent. (wikipedia.org)
- Protein C has a short half life (8 hour) compared with other vitamin K-dependent factors and therefore is rapidly depleted with warfarin initiation, resulting in a transient hypercoagulable state. (wikipedia.org)
- This is thought to be due to the shorter half-life of protein C (5 to 8 hours) compared to other vitamin K dependent clotting factors. (unboundmedicine.com)
Genes2
- Additionally, mutations in other genes (GCKR, EDEM2, BAZ1B, etc.) are associated with variability in the levels of protein C expression in the general population, although their clinical significance is currently unknown. (unboundmedicine.com)
- A link between response to S deficiency, ethylene sensing, and LSU-like proteins was emphasized by changes in expression of the genes encoding ethylene receptors and F-box proteins specific for the ethylene pathway. (waw.pl)
Cofactor2
- We are studying molecular basis of deficiencies and polymorphisms in complement inhibitors factor I, factor H, C4b-binding protein, membrane cofactor protein (CD46). (lu.se)
- Activated protein C (APC) inhibits generation of thrombin by inactivating factors Va and VIIIa, using protein S as a cofactor. (unboundmedicine.com)
Thrombotic6
- Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. (wikipedia.org)
- Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8-10), whereas no association with arterial thrombotic disease has been found. (wikipedia.org)
- It is uncertain whether or not acquired deficiency contributes to a thrombotic tendency. (clinlabnavigator.com)
- Since acquired deficiencies of Protein C occur frequently in hospitalized patients, it is preferable to perform the assays at a time when the patient is in stable condition, and ideally in remission from thrombotic events. (clinlabnavigator.com)
- We often make a fundamental error by testing for protein C and protein S deficiency when a patient is taking coumadin (warfarin), or when they have had a recent thrombotic event, both of which consistently cause both protein C and protein S to be temporarily decreased. (fritsmafactor.com)
- Aside from the issue of protein C and protein S deficiency, the patient you are describing may have had one or more thrombotic (blood clotting) episodes that are independent of the protein C and protein S diagnosis. (fritsmafactor.com)
Mutation2
- Finding of non-synonymous mutation in a protein does not necessarily mean that the mutation affects protein structure, secretion or function. (lu.se)
- This can be sometimes predicted but in most cases it must be evaluated by expressing a recombinant protein carrying the mutation and comparing its properties to the wild type. (lu.se)
Assays7
- There are two main types of protein C assays, activity and antigen (immunoassays). (wikipedia.org)
- Antigen assays are immunoassays designed to measure the quantity of protein C regardless of its function. (wikipedia.org)
- Type I deficiencies are therefore characterized by a decrease in both activity and antigen protein C assays whereas type II deficiencies exhibit normal protein C antigen levels with decreased activity levels. (wikipedia.org)
- In support, we have used phenotypic, reporter and protein-based assays to demonstrate increased translational infidelity in trm9Δ Saccharomyces cerevisiae cells. (nih.gov)
- Therefore we have established expression systems for these proteins as well as panel of functional assays. (lu.se)
- If it is not possible to discontinue oral anticoagulants and protein C assay is felt to be essential, consideration should be given to stopping the warfarin for 10 days prior to the assays while the patient is temporarily covered with heparin (standard or low molecular weight). (clinlabnavigator.com)
- Of the 11 tumors with retained MMR protein expression, four were MSI-low/MSI-high or MSI-high by the Promega assay or one of the sequencing-based assays. (lu.se)
Abnormal4
- While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. (medlineplus.gov)
- Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting. (medlineplus.gov)
- Individuals with this condition do not have enough functional protein C to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. (medlineplus.gov)
- There are two main types of protein C mutations that lead to protein C deficiency: Type I: Quantitative defects of protein C (low production or short protein half life) Type II: Qualitative defects, in which interaction with other molecules is abnormal. (wikipedia.org)
Contributes3
- SIGNIFICANCE STATEMENT Although the loss of several synaptic proteins has been described in Alzheimer's disease (AD), it remains unclear whether their reduction contributes to clinical symptoms. (jneurosci.org)
- Dietary protein deficiency not only contributes to poor growth, cardiovascular dysfunction, and worsens metabolic profiles. (vigorcolumn.com)
- An satisfactory protein standing contributes to the regulation of blood sugar ranges, therapeutic of wounds, and combat towards a number of pathogens that may trigger infections. (dadelaon.com)
Enough protein8
- Are you getting enough protein? (circulatingnow.com)
- I would also argue that if someone isn't eating enough protein, they probably aren't eating enough calories overall. (circulatingnow.com)
- According to Rizzo, not having enough protein can actually harm the immune system. (circulatingnow.com)
- How do vegans get enough protein? (sadecetech.com)
- Your daily meals consisting of roti , dal , rice does not provide enough protein. (thechannel46.com)
- See the chart below to determine if you are consuming enough protein daily (total from all sources). (hammernutrition.com)
- If you aren't getting enough protein, the time to start is now! (hammernutrition.com)
- Without enough protein for repair, your muscles may not have fully recovered from the previous day's workout. (hammernutrition.com)
Nutrient3
- This has been partly attributed to changing environmental factors such as exposure to traffic-related air pollution (TRAP) and nutrient deficiencies, including vitamin D. Furthermore, population-based studies have suggested that air pollution may contribute to vitamin D deficiency [ 1 ], while vitamin D levels may modify pollution-driven asthma symptoms in paediatric obesity [ 2 ]. (ersjournals.com)
- Protein is a vital nutrient for immune function and injury recovery. (circulatingnow.com)
- however, some data suggest their importance for plants' adjustment to nutrient deficiency and other environmental stresses. (waw.pl)
Genetics1
- Therefore, protein and amino acids not only maintain the life of poultry, but also have a very close relationship with the growth, development, genetics, disease resistance and egg formation of poultry. (arshinefeed.com)
20201
- For the past year, Right To Protein has been assessing the existing challenges related to protein consumption in India, marked by the launch of Protein-O-Meter as well as the launch of India's first Protein Day on February 27, 2020. (thechannel46.com)
Amino27
- Most of the mutations that cause protein C deficiency change single protein building blocks (amino acids) in protein C, which disrupts its ability to control blood clotting. (medlineplus.gov)
- Protein can be found in various ways, but the proportion of essential and non-essential amino acids differs from each food base. (progenmethod.com)
- It is evident that animal-based proteins are rich and high in quality as they have a higher level of essential amino acids compared to plant-based foods which have a lower level of essential amino acids that is required by the body. (progenmethod.com)
- Protein is a string of amino acids that create the building blocks for the physical parts of your body, including muscles, bones , skin, hair, nails, and organs. (bestmadenaturalproducts.com)
- Amino acids are the building blocks of proteins, and proteins are the building blocks of muscle mass, according to the National Institutes of Health (NIH). (bestmadenaturalproducts.com)
- When we say "protein builds muscle," what we mean is the body breaks down protein into its amino acids, and those amino acids are synthesized into muscle. (bestmadenaturalproducts.com)
- Amino acids - the "building blocks of protein" - are compounds that are responsible for a variety of bodily processes, including neurological processes and muscle synthesis. (bestmadenaturalproducts.com)
- It is important to understand the role amino acids play in protein because some amino acids are better than others when it comes to muscle health - which is critical for health and well-being. (bestmadenaturalproducts.com)
- The main difference between animal and plant proteins is their amino acid profile. (bestmadenaturalproducts.com)
- Most animal proteins are complete proteins, meaning they contain all 9 of the essential amino acids (EAAs). (bestmadenaturalproducts.com)
- Most plant proteins are considered incomplete proteins, meaning they are missing at least one essential amino acid. (bestmadenaturalproducts.com)
- First, whey is a complete protein, meaning that it contains all of the essential amino acids. (bestmadenaturalproducts.com)
- Secondly, whey proteins are abundant in Branched Chain Amino Acids (BCAAs) which are a subset of EAAs that support muscle growth. (bestmadenaturalproducts.com)
- A well-balanced vegan diet includes various protein sources three times a day to ensure the body obtains enough essential amino acids. (justvegantoday.com)
- Proteins are 'king' when it comes to recovery and growth: these nutrients, once in the body, are digested into amino acids that are the building blocks of your lean mass. (boxrox.com)
- On top of that, quinoa is also a complete protein , meaning that it has all nine types of essential amino acids that your body can't produce but needs for key functions like energy production, tissue repair and immunity . (sadecetech.com)
- Protein is made up of 20 amino acids , 11 of which the body can produce on its own. (sadecetech.com)
- As we've mentioned, when foods contain all nine essential amino acids, they're called complete proteins. (sadecetech.com)
- Poultry protein and amino acid deficiency-Knowledge-Arshine Feed Biotech Co., Ltd. (arshinefeed.com)
- 1. Insufficient protein and amino acid content in feed The content of protein and amino acid in common poultry feed is quite different. (arshinefeed.com)
- Grain and bran feeds have less protein content and incomplete nutritional value, especially lack of methionine and lysine, while animal protein feeds have higher protein content and more complete types of amino acids. (arshinefeed.com)
- If the type of feed is single, the diet is unreasonable, and the animal protein feed is lacking for a long time, it can cause the lack of protein and amino acids. (arshinefeed.com)
- In addition, the protein and amino acid requirements of poultry are closely related to the type, breed, age, production performance, environmental temperature and dietary energy level of poultry. (arshinefeed.com)
- Therefore, if the difference in protein and amino acid requirements of the above-mentioned factors is ignored in poultry breeding, and a certain formula is used unchanged for a long time, it will also cause a lack of protein and amino acids. (arshinefeed.com)
- For example, lysine, methionine and tryptophan in the essential amino acids are restricted when poultry uses other amino acids to synthesize protein (called limiting amino acids). (arshinefeed.com)
- Cereals such as corn and sorghum, bran feed), and other amino acids cannot be utilized, resulting in a deficiency. (arshinefeed.com)
- Specific amino acids in protein are the building blocks for neurotransmitters such as dopamine and serotonin which control mood. (hammernutrition.com)
Inhibitors1
- Future research is required to determine the amounts of anti-nutrients (e.g. protease inhibitors, chelators) in these vegetables, and the extent to which their protein, lipid and mineral constituents are digested and/ or absorbed. (cdc.gov)
Patients12
- Brouwer JL, Lijfering WM, Ten Kate MK, Kluin-Nelemans HC, Veeger NJ, van der Meer J. High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. (medlineplus.gov)
- Patients with Protein C deficiency are at an increased risk of developing skin necrosis while on warfarin. (wikipedia.org)
- Screening all patients for inherited or acquired forms of PCD prior to initiating warfarin is not cost-effective or prognostic because many patients with documented deficiency do not progress to WISN. (unboundmedicine.com)
- Animal proteins, such as whey protein, have been studied extensively clinically to determine their effect on skeletal muscle and tissue repair so are recommended for athletes and people who need to increase muscle health and mass, like the elderly or post-surgical patients. (bestmadenaturalproducts.com)
- Initial and sequential levels of ATIII (activity), PC (antigen and activity), PS (total and free), and C4b binding protein (C4bBP) were compared according to the outcome in patients with DIC. (qxmd.com)
- In the group DIC+, all patients but two had severe deficiencies in ATIII and PC levels. (qxmd.com)
- 2003). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. (nih.gov)
- Skin necrosis may develop in patients with reduced Protein C levels at the beginning of warfarin therapy. (clinlabnavigator.com)
- For Orthopedic patients, Pro360 manufactured Pro360 Ortho Protein Powder to improve healing and joint flexibility, reduces stiffness, swelling, improve visions and chronic inflammation from sports and training. (vigorcolumn.com)
- Pro360 Nephro HP is high in calories and protein provides the complete renal nutrition to fulfil the needs of dialysis patients. (vigorcolumn.com)
- Case-patients 1 and 2 had vitamin A deficiency with values of 0.31 mg/L and 0.2 mg/L, respectively, (reference range 0.5-0.8 mg/L). We measured vitamin A levels in blood samples from the next 4 consecutive hospitalized patients with measles, all of whom were from the Roma community. (cdc.gov)
- However, the diagnosis of vitamin A deficiency is usually supported by low levels of serum vitamin A and levels of retinol-binding protein within the reference range as described for at least 1 of the case-patients reported here. (cdc.gov)
Nutritional3
- Thus, the deficiency of protein and micronutrients remains a major nutritional problem in India. (vigorcolumn.com)
- Most other complete proteins come from animal sources, which makes quinoa stand out in terms of its nutritional benefits for vegan diets. (sadecetech.com)
- Pellagra: Pellagra is a nutritional disorder due to the deficiency of niacin, one of the B-complex group of vitamins in the diet. (ignouworld.com)
Antigen1
- Repeated testing for protein C functional activity allows differentiation between transient and congenital deficiency of protein C. Initially, a protein C activity (functional) assay can be performed, and if the result is low, a protein C antigen assay can be considered to determine the deficiency subtype (Type I or Type II). (wikipedia.org)
Congenital protein2
- Severe congenital protein C deficiency: the use of protein C concentrates (human) as replacement therapy for life-threatening blood-clotting complications. (medlineplus.gov)
- Congenital protein C deficiency is one of several inherited thrombophilias, which are a heterogeneous group of genetic disorders associated with an elevated risk of venous thromboembolism. (medscape.com)
Complete proteins2
- However, eating multiple plant proteins together can create the effect of complete proteins. (bestmadenaturalproducts.com)
- Most complete proteins are animal-based products (including meat, eggs and dairy). (sadecetech.com)
Transient1
- This is due to a transient hypercoagulable state following the rapid warfarin-induced fall in Protein C levels, before the levels of Factors II, IX, and X decrease. (clinlabnavigator.com)
Poor protein4
- The aged inhabitants is extra inclined to muscle losing once they have a poor protein weight-reduction plan. (dadelaon.com)
- Moreover, unhealthy pores and skin indicators protein deficiency because of poor protein diets. (dadelaon.com)
- Edema may be due to low levels of circulating proteins from poor protein digestion. (diagnose-me.com)
- Casein - Based solely on its bioavailability rating, casein is a poor protein source for recovery. (hammernutrition.com)
Plant-based15
- A range of animal-based and plant-based foods are rich in protein, but is the quality the same? (progenmethod.com)
- There are two main categories (or sources) of proteins - animal and plant-based. (bestmadenaturalproducts.com)
- Because these are the known primary protein sources, there is a common misconception that plant-based diets are not protein-efficient. (justvegantoday.com)
- Seitan , tofu , tempeh , Quinoa are just some of the protein-rich plant-based food sources. (justvegantoday.com)
- Because athletes generally require higher doses of protein and plant-based protein sources are harder to digest, they can also take plant-based protein supplements or switch to plant-based meat substitutes . (justvegantoday.com)
- Again, it is essential to note that this particular rumor is fueled by a lack of knowledge about plant-based protein. (justvegantoday.com)
- Tempeh, tofu, and plant-based meat substitutes contain just as much protein as do animal-based sources. (justvegantoday.com)
- Plant-Based Protein isn't as Good as that Sourced from Animals. (justvegantoday.com)
- However, plant-based sources are just as protein-efficient. (justvegantoday.com)
- Research indicates that plant-based protein is, in fact, better for one's overall health as it has a low-fat content. (justvegantoday.com)
- Whether you're a longtime herbivore or you've recently considered switching to a plant-based diet, you've probably wondered about how to get more protein as a vegan. (sadecetech.com)
- Looking for ways to increase your plant-based protein consumption or avoid protein deficiency? (sadecetech.com)
- There are many plant-based protein powders available today, and you can use them in all kinds of ways. (sadecetech.com)
- 2) In smaller quantities, protein can also be present in plant-based meals reminiscent of beans and seeds. (dadelaon.com)
- Organic Vegan Protein - A unique and potent dairy-free, soy-free blend of five outstanding, 100% organic, plant-based proteins. (hammernutrition.com)
Occlusion2
- Central retinal artery and vein occlusion - Protein C Deficiency 33 year old male 291 views 33 year old male with vision loss for 3 hours. (retinagallery.com)
- Central retinal artery and vein occlusion - Protein C Deficiency 33 year old male 307 views 33 year old male with vision loss for 3 hours. (retinagallery.com)
Disease6
- Surfactant protein B (SFTPB) deficiency is a fatal disease affecting newborn infants. (nature.com)
- Pro360 Nephro LP is high in calories with lower protein helps to slow down the progression of chronic kidney disease and maintain nutrition status. (vigorcolumn.com)
- In the chronic stage of the disease, when the erosion of the cartilage is taking place, it is possible that immune reactions to other cartilage proteins are initiated and contribute to the disease course. (biomedcentral.com)
- In fact, the immunization with other cartilage proteins in some cases will cause a disease similar in type to CIA, which has been shown to be immunized with COMP [ 7 ]. (biomedcentral.com)
- Ricket is a disease of growing children in which the bones become softened & deformed due to the deficiency of vitamin D. Osteomalacia is the adult format vitamin D deficiency. (ignouworld.com)
- C-reactive protein is considered one of the best measures of the acute phase response to an infectious disease or other cause of tissue damage and inflammation. (cdc.gov)
Differentiation3
- Here we show the differentiation of patient specific iPSCs derived from a patient with SFTPB deficiency into lung organoids with mesenchymal and epithelial cell populations from both the proximal and distal portions of the human lung. (nature.com)
- After differentiating the mutant and corrected cells into lung organoids, we show expression of SFTPB mRNA during endodermal and organoid differentiation but the protein product only after organoid differentiation. (nature.com)
- We show that TMEM53 acts as an inhibitor of BMP-SMAD signaling by preventing SMAD accumulation in the cell nucleus and that its deficiency enhances osteogenic differentiation by overactivating the BMP signaling pathway. (nature.com)
Thrombophilia1
- Testing for protein Z deficiency is not part of routine thrombophilia testing. (msdmanuals.com)
Carbohydrates5
- There are three macronutrients: protein, fats, and carbohydrates. (bestmadenaturalproducts.com)
- Carbohydrates require much more insulin than fat or protein does. (boxrox.com)
- Sadly, the meals cravings related to protein deficiency result in the consumption of upper quantities of carbohydrates and sugary meals however restricted protein consumption, leading to weight acquire. (dadelaon.com)
- b) Kwashiorkor: Lack of protein from carbohydrates sources like rice, bananas cause kwashiorkor. (ignouworld.com)
- Specific and quantitative detail of every food or drink consumed during the previous day was recorded and calculated, thus providing estimates of calories, protein, carbohydrates, fat, unsaturated fats, cholesterol, and specific vitamins and minerals consumed. (cdc.gov)
Mild3
- Mild protein C deficiency affects approximately 1 in 500 individuals. (medlineplus.gov)
- People with a mild protein C deficiency often do not exhibit any symptoms, even into adulthood. (wikipedia.org)
- Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. (nih.gov)
Clinical1
- Medicine Central , im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688740/all/Protein_C_Deficiency. (unboundmedicine.com)
Vegan diet2
- One of the most common myths about a vegan diet is that it is not protein-efficient. (justvegantoday.com)
- However, that is not true as a well-balanced vegan diet contains adequate protein. (justvegantoday.com)
Metabolism2
- When protein is broken down in the body it helps to fuel muscle mass, which helps metabolism. (bestmadenaturalproducts.com)
- Metabolism is regulated by proteins as are hormones & the various activities they control. (ignouworld.com)
Autosomal recessive1
- Methods and results This report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1 , one of the four subunits of the adaptor protein complex-4 (AP-4), identified by chromosomal microarray analysis. (bmj.com)
Symptoms1
- We thus sought to determine whether a SHANK3 deficiency could contribute to the emergence or worsening of AD symptoms and neuropathology. (jneurosci.org)
Interaction3
- deficiencies in that interaction are a likely cause of otoferlin-related hearing loss. (reachmd.com)
- This work established that the regulation of ethylene signalling is a part of plants' response to S deficiency and showed the interaction between UP9C, a tobacco LSU family member, and one of the tobacco isoforms of 1-aminocyclopropane-1-carboxylic acid oxidase (ACO2A). (waw.pl)
- The four and a half LIM-only protein 2 (FHL2) is capable of shuttling between focal adhesion and nucleus where it signals through direct interaction with a number of proteins including beta-catenin. (pasteur.fr)
Kwashiorkor1
- The most severe form of protein deficiency is known as kwashiorkor. (bestmadenaturalproducts.com)
Severity1
- Vitamin A deficiency affects the severity of illness and the rate of deaths associated with measles, and it is known to induce severe measles-related complications in children, delaying recovery and promoting xerophthalmia, corneal ulcer, and blindness ( 7 , 8 , 10 ). (cdc.gov)
Affects1
- when the content of sugar and fat in the diet is insufficient, it not only strengthens protein decomposition, but also affects protein synthesis. (arshinefeed.com)
Functional1
- [ 9 ] These mutations are divided into 2 types-type I and type II-on the basis of whether they cause a quantitative (type I) or functional (type II) deficiency of protein C. (medscape.com)
Liver3
- If you tend to replace protein foods with sugary snacks, refined carbs and packaged convenient goods, your cholesterol can start to rise as your liver and cells process fats less efficiently. (boxrox.com)
- It also improves bile flow and prevents muscle protein catabolism in the liver. (vigorcolumn.com)
- Preeclampsia (toxemia in pregnancy) is a disorder of pregnancy that is characterized by hypertension (high blood pressure) and proteinuria (excessive protein in the urine), often including edema (swelling) and occasionally involving thrombocytopenia (low platelets) or liver function abnormalities. (diagnose-me.com)
Levels9
- In addition to the expected 50% loss of Shank3a, levels of other synaptic proteins, such as PSD-95, drebrin, and homer1, remained unchanged in the parietotemporal cortex of hemizygous Shank3 Δex4-9 animals. (jneurosci.org)
- However, Shank3a deficiency increased the levels of soluble Aβ 42 and human tau at 18 months of age compared with 3xTg-AD mice with normal Shank3 expression. (jneurosci.org)
- Protein C levels are dependent on the patient's age and other medical conditions, with adult levels being reached at late adolescence. (ihtc.org)
- In mice, C3 (the precursor to ASP) knock-out (KO) results in ASP deficiency and leads to reduced body fat and leptin levels yet they are hyperphagic. (escholarship.org)
- Type I (most common) results in the reduction of protein C levels. (unboundmedicine.com)
- Type II results in a decreased functionality, despite having normal levels of protein C. (unboundmedicine.com)
- Serial measurements were consistent with a prolonged ATIII and PC deficiency with significantly different levels between survivors and nonsurvivors. (qxmd.com)
- When protein (especially albumin) levels in your blood go too low, the colloidal osmotic pressure will decrease and allow fluid to escape from blood vessels into your tissues, resulting in edema or swelling of the hands, feet, ankles, knees and/or belly. (diagnose-me.com)
- Mice homozygous for a null allele exhibit decreased serum factor V and VIII and aspartate transaminase serum levels with accumulation of the proteins in the ER of hepatocytes. (jax.org)
Quantitative2
- Type I protein C deficiency refers to a quantitative deficiency in the plasma protein C concentration. (medscape.com)
- They also utilized quantitative proteomic methods , a technique that allows for a comprehensive analysis of proteins, to identify a molecular pathway causing the patient's condition. (medicalnewstoday.com)
Calorie2
- Meals cravings enhance urge for food and calorie consumption throughout these instances to amass protein from the weight-reduction plan for the satisfactory functioning and upkeep of the cells, tissues, and organs within the physique. (dadelaon.com)
- Protein/calorie deficiencies inhibit hair growth. (cdc.gov)