Protein S Deficiency
Protein S
Protein C Deficiency
Thrombophilia
Dimenhydrinate
Antithrombin III Deficiency
Sneddon Syndrome
Sagittal Sinus Thrombosis
Factor V Deficiency
Factor V
Protein C
Superior Sagittal Sinus
Immunoelectrophoresis, Two-Dimensional
Sinus Thrombosis, Intracranial
Activated Protein C Resistance
Ribosomal Protein S6
Point Mutation
Pedigree
Glycoproteins
Ribosomal Proteins
Complement C1s
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. (1/111)
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)Haemostatic and metabolic abnormalities in women with unexplained recurrent abortion. (2/111)
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 and portal vein thrombosis in a young patient with protein S deficiency treated with urokinase via the superior mesenteric artery. (3/111)
A 32-year-old man, who was previously healthy, had acute abdominal pain without peritonitis. Diffuse mesenteric and portal vein thrombosis were shown by means of a computed tomography scan. A protein s deficiency was found by means of an extensive workup for hypercoagulable state. Successful treatment was achieved with urokinase infusion via the superior mesenteric artery without an operation. This represents an attractive alternative approach to treating patients with this disease. The previous standard of operative intervention(1) can now be reserved for complications, such as bowel infarction with peritonitis, or for those patients with absolute contraindications to thrombolytic therapy. (+info)The incidence of venous thromboembolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S: a prospective cohort study. (4/111)
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)Protein S secretion differences of missense mutants account for phenotypic heterogeneity. (5/111)
To elucidate the molecular background for the heterogeneity in protein S plasma concentrations observed in protein S deficient individuals, the in vitro synthesis of recombinant protein S missense mutants was investigated. Six different naturally occurring mutations identified in the protein S gene (PROS1) of thrombosis patients were reproduced in protein S cDNA by site directed mutagenesis. Two mutants, G441C and Y444C (group A), were associated with low total plasma concentration of protein S. Modestly low protein S was found in families with R520G and P626L (group B) mutants. T57S and I518M (group C), which was associated with marginally low protein S, did not segregate with protein S deficiency in the respective families, raising doubts as to whether they were causative mutations or rare neutral variants. The 6 protein S mutants were transiently expressed in COS 1 cells. The Y444C mutant showed the lowest level of secretion (2.5%) followed by the G441C mutant (40%). Group B demonstrated around 50% reduction in secretion, whereas group C mutants showed normal secretion. Pulse-chase experiments demonstrated impaired protein S processing with intracellular degradation and decreased secretion into the culture media of group A and B mutants. Interestingly, there was a good correlation between in vitro secretion and the concentration of free protein S in the plasma of heterozygous carriers. These results demonstrate impaired protein S secretion to be an important mechanism underlying hereditary protein S deficiency and that variations in protein secretion is a major determinant of the phenotypic heterogeneity observed in protein S deficiency. (Blood. 2000;95:173-179) (+info)Dural sinus thrombosis in a patient with protein S deficiency--case report. (6/111)
A 23-year-old female presented with dural sinus thrombosis caused by protein S deficiency. She suffered superior sagittal sinus thrombosis 6 days after delivering her first child. Past history showed deep vein thrombosis at the age of 20. While conservative management was initiated because of the potential risk of increasing intracranial hemorrhage, several hours later she deteriorated rapidly because of severe brain swelling with massive hemorrhage. The patient died despite surgical decompression. Autopsy disclosed organized thrombus in the superior sagittal and transverse sinuses. Although the total concentration of protein S was normal, the free protein S concentration and protein S activity were decreased. Protein S deficiency is a rare cause of dural sinus thrombosis, but is associated with a high mortality rate, so accurate diagnosis and urgent intervention are required. (+info)Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. (7/111)
Protein S deficiency is a recognized risk factor for venous thrombosis. Of all the inherited thrombophilic conditions, it remains the most difficult to diagnose because of phenotypic variability, which can lead to inconclusive results. We have overcome this problem by studying a cohort of patients from a single center where the diagnosis was confirmed at the genetic level. Twenty-eight index patients with protein S deficiency and a PROS1 gene defect were studied, together with 109 first-degree relatives. To avoid selection bias, we confined analysis of total and free protein S levels and thrombotic risk to the patients' relatives. In this group of relatives, a low free protein S level was the most reliable predictor of a PROS1 gene defect (sensitivity 97.7%, specificity 100%). First-degree relatives with a PROS1 gene defect had a 5.0-fold higher risk of thrombosis (95% confidence interval, 1. 5-16.8) than those with a normal PROS1 gene and no other recognized thrombophilic defect. Although pregnancy/puerperium and immobility/trauma were important precipitating factors for thrombosis, almost half of the events were spontaneous. Relatives with splice-site or major structural defects in the PROS1 gene were more likely to have had a thrombotic event and had significantly lower total and free protein S levels than those relatives having missense mutations. We conclude that persons with PROS1 gene defects and protein S deficiency are at increased risk of thrombosis and that free protein S estimation offers the most reliable way of diagnosing the deficiency. (Blood. 2000;95:1935-1941) (+info)Deficiency of natural anticoagulant proteins C, S, and antithrombin in portal vein thrombosis: a secondary phenomenon? (8/111)
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 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 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.
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.
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.
Dimenhydrinate is an antihistamine medication that is commonly used to prevent and treat motion sickness. It is a combination of diphenhydramine and 8-chlorotheophylline in a 50:50 ratio by weight. Diphenhydramine is an antihistamine with anticholinergic and sedative properties, while 8-chlorotheophylline is a mild stimulant that helps counteract the sedative effects of diphenhydramine.
Dimenhydrinate works by blocking the action of histamine, a substance in the body that causes allergic symptoms, as well as certain motion sickness-inducing signals in the brain. By doing so, it can help alleviate symptoms such as nausea, vomiting, and dizziness associated with motion sickness.
Dimenhydrinate is available over-the-counter and by prescription in various forms, including tablets, capsules, and liquid solutions. It is important to follow the dosage instructions carefully and talk to a healthcare provider before taking this medication if you have any medical conditions or are taking other medications.
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.
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.
Sneddon syndrome is a rare medical condition characterized by the concurrence of livedo reticularis (a purplish, net-like discoloration of the skin) and recurrent strokes or transient ischemic attacks (TIAs). It primarily affects young to middle-aged women. The exact cause of Sneddon syndrome remains unknown, but it's thought to be an autoimmune disorder with potential involvement of the coagulation system.
The main diagnostic criteria for Sneddon syndrome are:
1. Livedo reticularis (fixed, persistent form)
2. One or more cerebrovascular events (strokes or TIAs)
Additional features may include cognitive impairment, migraine-like headaches, seizures, and other neurological symptoms. Diagnosis is often challenging due to its rarity and the need to exclude other conditions that can present with similar symptoms. Treatment typically involves anticoagulation therapy, antiplatelet agents, or immunosuppressive medications to manage symptoms and prevent further cerebrovascular events.
Sagittal sinus thrombosis is a medical condition that refers to the formation of a blood clot (thrombus) in the sagittal sinus, which is a venous structure located in the brain. The sagittal sinus runs along the midline of the brain and receives blood from the superficial veins of the brain.
Sagittal sinus thrombosis can occur as a result of various conditions, such as head trauma, infection, cancer, or certain medical disorders that cause hypercoagulability (an increased tendency to form blood clots). The formation of a blood clot in the sagittal sinus can obstruct the flow of blood from the brain, leading to symptoms such as headache, seizures, altered consciousness, and focal neurological deficits.
Diagnosis of sagittal sinus thrombosis typically involves imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) scans, which can show the presence of a blood clot in the sagittal sinus. Treatment may involve administering anticoagulant medications to prevent further growth of the blood clot and reduce the risk of complications such as pulmonary embolism or cerebral infarction. In some cases, surgical intervention may be necessary to remove the blood clot or alleviate pressure on the brain.
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.
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.
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.
The Superior Sagittal Sinus is a medical term that refers to a venous sinus (a channel for blood flow) located in the superior part (highest portion) of the sagittal suture, which is the line along the top of the skull where the two parietal bones join in the middle. It runs from front to back, starting at the frontal bone and ending at the occipital bone, and it receives blood from veins that drain the cerebral hemispheres (the right and left halves of the brain).
The Superior Sagittal Sinus is an important structure in the circulatory system of the brain as it plays a critical role in draining venous blood from the cranial cavity. It also contains valveless venous channels that allow for the flow of cerebrospinal fluid (CSF) between the intracranial and extracranial compartments.
It is worth noting that any damage to this structure, such as through trauma or infection, can lead to serious neurological complications, including increased intracranial pressure, seizures, and even death.
Two-dimensional immunoelectrophoresis (2DE) is a specialized laboratory technique used in the field of clinical pathology and immunology. This technique is a refined version of traditional immunoelectrophoresis that adds an additional electrophoretic separation step, enhancing its resolution and allowing for more detailed analysis of complex protein mixtures.
In two-dimensional immunoelectrophoresis, proteins are first separated based on their isoelectric points (pI) in the initial dimension using isoelectric focusing (IEF). This process involves applying an electric field to a protein mixture contained within a gel matrix, where proteins will migrate and stop migrating once they reach the pH that matches their own isoelectric point.
Following IEF, the separated proteins are then subjected to a second electrophoretic separation in the perpendicular direction (second dimension) based on their molecular weights using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). SDS is a negatively charged molecule that binds to proteins, giving them a uniform negative charge and allowing for separation based solely on size.
Once the two-dimensional separation is complete, the gel is then overlaid with specific antisera to detect and identify proteins of interest. The resulting precipitin arcs formed at the intersection of the antibody and antigen are compared to known standards or patterns to determine the identity and quantity of the separated proteins.
Two-dimensional immunoelectrophoresis is particularly useful in identifying and quantifying proteins in complex mixtures, such as those found in body fluids like serum, urine, or cerebrospinal fluid (CSF). It can be applied to various clinical scenarios, including diagnosis and monitoring of monoclonal gammopathies, autoimmune disorders, and certain infectious diseases.
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.
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.
Intracranial sinus thrombosis is a medical condition characterized by the formation of a blood clot (thrombus) within the intracranial venous sinuses, which are responsible for draining blood from the brain. The condition can lead to various neurological symptoms and complications, such as increased intracranial pressure, headaches, seizures, visual disturbances, and altered consciousness. Intracranial sinus thrombosis may result from various factors, including hypercoagulable states, infections, trauma, and malignancies. Immediate medical attention is necessary for proper diagnosis and treatment to prevent potential long-term neurological damage or even death.
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.
Ribosomal Protein S6 (RP S6) is a protein component of the 40S subunit of eukaryotic ribosomes, which are complexes responsible for protein synthesis in cells. Specifically, RP S6 is part of the heterodimer that makes up the head of the 40S subunit.
RP S6 plays a role in regulating translation, the process by which mRNA (messenger RNA) molecules are decoded to produce proteins. It has been found to be involved in the initiation and elongation steps of translation, particularly in response to various cellular signals such as growth factors, hormones, and nutrients.
Phosphorylation of RP S6 is a key regulatory mechanism that modulates its activity during translation. This phosphorylation can be mediated by several kinases, including the p70S6 kinase (p70S6K), which is activated in response to growth factor signaling and nutrient availability.
Abnormalities in RP S6 regulation have been implicated in various diseases, such as cancer, where increased RP S6 phosphorylation has been observed in many tumor types, suggesting a role in promoting cell proliferation and survival.
Blood coagulation tests, also known as coagulation studies or clotting tests, are a series of medical tests used to evaluate the blood's ability to clot. These tests measure the functioning of various clotting factors and regulatory proteins involved in the coagulation cascade, which is a complex process that leads to the formation of a blood clot to prevent excessive bleeding.
The most commonly performed coagulation tests include:
1. Prothrombin Time (PT): Measures the time it takes for a sample of plasma to clot after the addition of calcium and tissue factor, which activates the extrinsic pathway of coagulation. The PT is reported in seconds and can be converted to an International Normalized Ratio (INR) to monitor anticoagulant therapy.
2. Activated Partial Thromboplastin Time (aPTT): Measures the time it takes for a sample of plasma to clot after the addition of calcium, phospholipid, and a contact activator, which activates the intrinsic pathway of coagulation. The aPTT is reported in seconds and is used to monitor heparin therapy.
3. Thrombin Time (TT): Measures the time it takes for a sample of plasma to clot after the addition of thrombin, which directly converts fibrinogen to fibrin. The TT is reported in seconds and can be used to detect the presence of fibrin degradation products or abnormalities in fibrinogen function.
4. Fibrinogen Level: Measures the amount of fibrinogen, a protein involved in clot formation, present in the blood. The level is reported in grams per liter (g/L) and can be used to assess bleeding risk or the effectiveness of fibrinogen replacement therapy.
5. D-dimer Level: Measures the amount of D-dimer, a protein fragment produced during the breakdown of a blood clot, present in the blood. The level is reported in micrograms per milliliter (µg/mL) and can be used to diagnose or exclude venous thromboembolism (VTE), such as deep vein thrombosis (DVT) or pulmonary embolism (PE).
These tests are important for the diagnosis, management, and monitoring of various bleeding and clotting disorders. They can help identify the underlying cause of abnormal bleeding or clotting, guide appropriate treatment decisions, and monitor the effectiveness of therapy. It is essential to interpret these test results in conjunction with a patient's clinical presentation and medical history.
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.
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.
Glycoproteins are complex proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone. These glycans are linked to the protein through asparagine residues (N-linked) or serine/threonine residues (O-linked). Glycoproteins play crucial roles in various biological processes, including cell recognition, cell-cell interactions, cell adhesion, and signal transduction. They are widely distributed in nature and can be found on the outer surface of cell membranes, in extracellular fluids, and as components of the extracellular matrix. The structure and composition of glycoproteins can vary significantly depending on their function and location within an organism.
Ribosomal proteins are a type of protein that play a crucial role in the structure and function of ribosomes, which are complex molecular machines found within all living cells. Ribosomes are responsible for translating messenger RNA (mRNA) into proteins during the process of protein synthesis.
Ribosomal proteins can be divided into two categories based on their location within the ribosome:
1. Large ribosomal subunit proteins: These proteins are associated with the larger of the two subunits of the ribosome, which is responsible for catalyzing peptide bond formation during protein synthesis.
2. Small ribosomal subunit proteins: These proteins are associated with the smaller of the two subunits of the ribosome, which is responsible for binding to the mRNA and decoding the genetic information it contains.
Ribosomal proteins have a variety of functions, including helping to stabilize the structure of the ribosome, assisting in the binding of substrates and cofactors necessary for protein synthesis, and regulating the activity of the ribosome. Mutations in ribosomal proteins can lead to a variety of human diseases, including developmental disorders, neurological conditions, and cancer.
DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.
The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.
DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.
It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.
Complement C1s is a protein that plays a crucial role in the complement system, which is a part of the immune system that helps to clear pathogens and damaged cells from the body. Specifically, C1s is a component of the first protein complex in the classical complement pathway, called C1.
C1 is composed of three subunits: C1q, C1r, and C1s. When C1 encounters an activating surface, such as an antibody-antigen complex or certain types of viruses and bacteria, it undergoes a conformational change that allows C1r to cleave and activate C1s. Activated C1s then goes on to cleave and activate other components in the complement pathway, leading to the generation of the membrane attack complex (MAC) and subsequent lysis of the target cell.
Deficiencies or mutations in the genes encoding complement proteins, including C1s, can lead to various immune disorders and increased susceptibility to infections.
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
List of hematologic conditions
Vitamin D
P14 deficiency
E3 binding protein
Vitamin A deficiency
Francisco Xavier de Mendonça Furtado
Alan Berg (global nutrition advocate)
Amaurosis fugax
Sialin
James Beveridge Thomson
Michael J. Lenardo
MACPF
Coppermine expedition
Disaccharidase
CD63
Cartilage associated protein
Uromodulin
Vitamin A
Caspase-8 deficiency
Protein C deficiency: MedlinePlus Genetics
Protein C Deficiency: Practice Essentials, Pathophysiology, Etiology
Protein C deficiency - Wikipedia
Gout may be caused by deficiency of a protein found in joint fluid
Reversal of Surfactant Protein B Deficiency in Patient Specific Human Induced Pluripotent Stem Cell Derived Lung Organoids by...
Translational infidelity-induced protein stress results from a deficiency in Trm9-catalyzed tRNA modifications
Acquired protein S deficiency. | Archives of Disease in Childhood
JCI - Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to...
Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimer's Disease Neuropathology to Impair Cognitive Performance in...
Neonatal purpura fulminans and transient protein C deficiency. | Archives of Disease in Childhood
Deafness-Causing Protein Deficiency Makes Brain Rewire Itself, Research Suggests - Be part of the knowledge ...
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and...
Who is working on investigational drugs for Protein Deficiency? Patents, clinical trials, drugs in development
Protein C (PC) Deficiency | Thrombosis and Clotting
Acylation-stimulating Protein (ASP)/Complement C3adesArg Deficiency Results in Increased Energy Expenditure in Mice*
CIITAbase: MHCII transactivating protein deficiency | Bioinformatics
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP | Journal of Experimental Medicine...
Protein Z Deficiency - Hematology and Oncology - MSD Manual Professional Edition
Inherited deficiencies of complement inhibitors | Protein Chemistry
Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood | TRDizin
protein deficiency Archives - Nancy Conway
protein deficiency - PNW Fitness Blog
Protein levels, air pollution and vitamin D deficiency: links with allergy | European Respiratory Society
protein s deficiency
Persistent Pulmonary Hypertension of the Newborn (PPHN): Practice Essentials, Overview, Etiology
Protein deficiency disease and the Coronavirus - Progen
Protein C Deficiency | 5-Minute Clinical Consult
Cholesterol-ester transfer protein deficiency - Global Genes
PROTEIN DEFICIENCY: SYMPTOMS, CAUSES & HOW TO TREAT
Veganism and Protein Deficiency Myths | Just Vegan Today
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)