Transferases
Glutathione Transferase
Alkyl and Aryl Transferases
Transferases (Other Substituted Phosphate Groups)
DNA Nucleotidylexotransferase
Coenzyme A-Transferases
Peptidyl Transferases
N-Acetylglucosaminyltransferases
ADP Ribose Transferases
Farnesyltranstransferase
Molecular Sequence Data
Acyltransferases
Dinitrochlorobenzene
Substrate Specificity
Galactosyltransferases
N-Acetylgalactosaminyltransferases
Amino Acid Sequence
Protein Prenylation
gamma-Glutamyltransferase
Glycosyltransferases
DNA Nucleotidyltransferases
Base Sequence
UTP-Hexose-1-Phosphate Uridylyltransferase
Escherichia coli
Isoenzymes
Pentosyltransferases
Liver
Glucuronosyltransferase
Cloning, Molecular
Glucosyltransferases
Glutathione
Catalysis
Carbohydrate Sequence
Glycosylation
UDPglucose-Hexose-1-Phosphate Uridylyltransferase
Sparsomycin
Mutation
Hypoxanthine Phosphoribosyltransferase
Mannosyltransferases
Sequence Homology, Amino Acid
Ethanolaminephosphotransferase
Binding Sites
Uridine Diphosphate N-Acetylglucosamine
Uridine Diphosphate N-Acetylgalactosamine
Methyltransferases
Ribosomes
In Situ Nick-End Labeling
Galactosemias
Catalytic Domain
Models, Molecular
Glutathione S-Transferase pi
Poly(ADP-ribose) Polymerases
Enzyme Inhibitors
Electrophoresis, Polyacrylamide Gel
Acetyltransferases
ATP Phosphoribosyltransferase
Chromatography, High Pressure Liquid
Puromycin
RNA, Ribosomal, 23S
Fucosyl Galactose alpha-N-Acetylgalactosaminyltransferase
Phosphotransferases
Apoptosis
Metabolic Detoxication, Drug
RNA, Messenger
Catechol O-Methyltransferase
Carboxyl and Carbamoyl Transferases
Microsomes, Liver
Sequence Alignment
Oligosaccharides
Mutagenesis, Site-Directed
Cytosol
Protein Binding
DNA Primers
Protein Structure, Tertiary
Dimethylallyltranstransferase
Haloarcula marismortui
Gene Expression Regulation, Enzymologic
Microsomes
Protein Processing, Post-Translational
Galactose
Aminoacyltransferases
DNA
N-Acetylhexosaminyltransferases
Nitrogenous Group Transferases
Chloramphenicol O-Acetyltransferase
Chromatography, Gel
Plasmids
Genetic Complementation Test
Hydroxymethyl and Formyl Transferases
Lesch-Nyhan Syndrome
Botulinum Toxins
Hydrogen-Ion Concentration
Aspartate Aminotransferases
Structure-Activity Relationship
Enzyme Induction
Leukemia, Lymphoid
Isoelectric Focusing
Acyl Carrier Protein
Sialyltransferases
Crystallography, X-Ray
Adipates
RNA, Transfer
Uridine Diphosphate Galactose
Saccharomyces cerevisiae
RNA Nucleotidyltransferases
Quinolones
Rats, Inbred Strains
Glutathione Peroxidase
Histamine N-Methyltransferase
Guanosine Diphosphate Mannose
Cells, Cultured
Transfection
Transcription, Genetic
Ornithine Carbamoyltransferase
Multigene Family
Fucosyltransferases
Blotting, Western
Uridine Monophosphate
Cattle
Phenotype
Oxalobacter formigenes
Acyl Coenzyme A
Orotate Phosphoribosyltransferase
Spermidine Synthase
Protein Conformation
DNA, Complementary
Dolichol
Molecular Structure
Amino Acids
Cricetinae
Conserved Sequence
NAD
Membrane Proteins
Alanine Transaminase
Acetyl Coenzyme A
Enzyme Stability
Chromatography, Affinity
Chromatography, Ion Exchange
Coumaric Acids
Mass Spectrometry
Rhizobium leguminosarum
Lincomycin
Adenosine Diphosphate Ribose
Adenine Phosphoribosyltransferase
Recombinant Fusion Proteins
beta-N-Acetylhexosaminidases
Enzyme Activation
Pantetheine
Biocatalysis
Golgi Apparatus
Species Specificity
Promoter Regions, Genetic
Aniline Hydroxylase
Butylated Hydroxyanisole
Fatty Acid Synthases
Tumor Cells, Cultured
Gene Expression
Ethacrynic Acid
Carnitine O-Palmitoyltransferase
Acetyl-CoA C-Acetyltransferase
Chromatography, Thin Layer
Chloroflexus
ABO Blood-Group System
Alkenes
Lipid A
NAD(P)H Dehydrogenase (Quinone)
Bufo bufo
Thymus Gland
Kidney
Cell Membrane
Taxus
The Saccharomyces cerevisiae CWH8 gene is required for full levels of dolichol-linked oligosaccharides in the endoplasmic reticulum and for efficient N-glycosylation. (1/1662)
The Saccharomyces cerevisiae mutant cwh8 was previously found to have an anomalous cell wall. Here we show that the cwh8 mutant has an N -glycosylation defect. We found that cwh8 cells were resistant to vanadate and sensitive to hygromycin B, and produced glycoforms of invertase and carboxypeptidase Y with a reduced number of N -chains. We have cloned the CWH8 gene. We found that it was nonessential and encoded a putative transmembrane protein of 239 amino acids. Comparison of the in vitro oligosaccharyl transferase activities of membrane preparations from wild type or cwh8 Delta cells revealed no differences in enzyme kinetic properties indicating that the oligosaccharyl transferase complex of mutant cells was not affected. cwh8 Delta cells also produced normal dolichols and dolichol-linked oligosaccharide intermediates including the full-length form Glc3Man9GlcNAc2. The level of dolichol-linked oligosaccharides in cwh8 Delta cells was, however, reduced to about 20% of the wild type. We propose that inefficient N -glycosylation of secretory proteins in cwh8 Delta cells is caused by an insufficient supply of dolichol-linked oligosaccharide substrate. (+info)Isolation and characterization of two mouse L cell lines resistant to the toxic lectin ricin. (2/1662)
Two variant mouse L cell lines (termed CL 3 and CL 6) have been selected for resistant to ricin, a galactose-binding lectin with potent cytotoxic activity. The resistant lines exhibit a 50 to 70% decrease in ricin binding and a 300- to 500-fold increase in resistance to the toxic effects of ricin. Crude membrane preparations of CL 3 cells have increased sialic acid content (200% of control), while the galactose, mannose, and hexosamine content is within normal limits. Both the glycoproteins and glycolipids of CL 3 cells have increased sialic acid, with the GM3:lactosylceramide ratios for parent L and CL 3 cells being 0.29 and 1.5, respectively. In contrast, the membranes of CL 6 cells have a decrease in sialic acid, galactose, and hexosamine content with mannose being normal. Both cell lines have specific alterations in glycosyltransferase activities which can account for the observed membrane sugar changes. CL 3 cells have increased CMP-sialic acid:glycoprotein sialyltransferase and GM3 synthetase activities, while CL 6 cells have decrease UDP-GlcNAc:glycoproteinN-acetylglucosaminyltransferase and DPU-galactose:glycoprotein galactosyltransferase activities. The increased sialic acid content of CL 3 cells serves to mask ricin binding sites, since neuraminidase treatment of this cell line restores ricin binding to essentially normal levels. However, the fact that neuraminidase-treated CL 3 cells are still 45-fold resistant to ricin indicates that either a special class of productive ricin binding sites is not being exposed or that the cell line has a second mechanism for ricin resistance. (+info)Hyaluronan synthase expression in bovine eyes. (3/1662)
PURPOSE: Hyaluronan (HA), a high-molecular-weight linear glycosaminoglycan, is a component of the extracellular matrix (ECM). It is expressed in eyes and plays important roles in many biologic processes, including cell migration, proliferation, and differentiation. Hyaluronan is produced by HA synthase (HAS), which has three isoforms: HAS1, HAS2, and HAS3. In this study, the HAS expression in the anterior segment of bovine eyes was investigated to determine the significance of HA in eyes. METHODS: To obtain bovine HAS probes, degenerate oligonucleotide primers, based on well-conserved amino acid sequences including the catalytic region of each HAS isoform, were used for reverse transcription-polymerase chain reaction to amplify mRNA from bovine corneal endothelial cells (BCECs). Hyaluronan synthase-1 expression in the anterior segment of bovine eyes at the protein level was investigated by immunohistochemistry. RESULTS: All three HAS isoforms were expressed in BCECs at the mRNA level. Amplified cDNA fragments of HAS1, HAS2, and HAS3 from BCECs can be aligned to human counterparts, showing similarities of 100%, 97.3%, and 100%, respectively, at the amino acid level. Hyaluronan synthase 1 was expressed at the protein level in corneal epithelium, keratocyte, corneal endothelium, conjunctival epithelium, ciliary epithelium, capillary endothelium, and trabecular meshwork. CONCLUSIONS: Hyaluronan synthase isoforms were expressed in the ocular anterior segment and are speculated to be involved in HA production in situ. (+info)Behavior of transaldolase (EC 2.2.1.2) and transketolase (EC 2.2.1.1) Activities in normal, neoplastic, differentiating, and regenerating liver. (4/1662)
The objective of this investigation was to throw light on the biological behavior and metabolic regulation of hepatic enzymes of the nonoxidative branch of the pentose phosphate pathway. The activities of transaldolase (EC 2.2.1.2) and trasketolase (EC 2.2.1.1) Were compared in biological conditions that involve modulation of gene expression such as in starvation, in differentiation, after partial hepatectomy, and in a spectrum of hepatomas of different growth rates. The enzyme activities were determined under optimal kinetic conditions by spectrophotometric methods in the 100,000 X g supernatant fluids prepared from tissue homogenates. The kinetic properties of transaldolase and transketolase were similar in normal liver and in rapidly growing hepatoma 3924A. For transaldolase, apparent Km values of 0.13 mM (normal liver) and 0.17 mM (hepatoma) were observed for erythrose 4-phosphate and of 0.30 to 0.35 mM for fructose 6-phosphate. The pH optima in liver and hepatoma were at approximately 6.9 to 7.2. For the transketolase substrates, ribose 5-phosphate and xylulose 5-phosphate, the apparent Km values were 0.3 and 0.5 mM, respectively, in both liver and hepatoma. A broad pH optimum around 7.6 was observed in both tissues. In organ distribution studies, enzyme activities were measured in liver, intestinal mucosa, thymus, kidney, spleen, brain, adipose tissue, lung, heart, and skeletal muscle. Taking the specific activity of liver as 100%, transaldolase activity was the highest in intestinal mucosa (316%) and in thymus (219%); it was the lowest in heart (53%) and in skeletal muscle (21%). Transketolase activity was highest in kidney (155%) and lowest in heart (26%) and skeletal muscle (23%). Starvation decreased transaldolase and transketolase activities in 6 days to 69 and 74%, respectively, of those of the liver of the normal, fed rat. This was in the same range as the decrease in the protein concentration (66%y. In the liver tumors, transaldolase activity was increased 1.5- to 3.4-fold over the activities observed in normal control rat liver. Transketolase activity showed no relationship to tumor proliferation rate. In the regenerating liver at 24 hr after partial hepatectomy, the activity of both pentose phosphate pathway enzymes was in the same range as that of the sham-operated controls. In differentiation at the postnatal age of 5, 12, 23, and 32 days, hepatic transaldolase activities were 33, 44, 55, and 72%, respectively, of the activities observed in the 60-day-old, adult male rat. During the same period, transketolase activ-ties were 18, 21, 26, and 55% of the activities observed in liver of adult rat. The demonstration of increased transaldolase activity in hepatomas, irrespective of the degree of tumor malignancy, differentiation, or growth rate, suggests that the reprogramming of gene expression in malignant transformation is linked with an increase in the expression of this pentose phosphate pathway enzyme... (+info)A 20-kDa domain is required for phosphatidic acid-induced allosteric activation of phospholipase D from Streptomyces chromofuscus. (5/1662)
Two phospholipase D (PLD) enzymes with both hydrolase and transferase activities were isolated from Streptomyces chromofuscus. There were substantial differences in the kinetic properties of the two PLD enzymes towards monomeric, micellar, and vesicle substrates. The most striking difference was that the higher molecular weight enzyme (PLD57 approximately 57 kDa) could be activated allosterically with a low mole fraction of phosphatidic acid (PA) incorporated into a PC bilayer (Geng et al., J. Biol. Chem. 273 (1998) 12195-12202). PLD42/20, a tightly associated complex of two peptides, one of 42 kDa and the other 20 kDa, had a 4-6-fold higher Vmax toward PC substrates than PLD57 and was not activated by PA. N-Terminal sequencing of both enzymes indicated that both components of PLD42/20 were cleavage products of PLD57. The larger component included the N-terminal segment of PLD57 and contained the active site. The N-terminus of the smaller peptide corresponded to the C-terminal region of PLD57; this peptide had no PLD activity by itself. Increasing the pH of PLD42/20 to 8.9, followed by chromatography of PLD42/20 on a HiTrap Q column at pH 8.5 separated the 42- and 20-kDa proteins. The 42-kDa complex had about the same specific activity with or without the 20-kDa fragment. The lack of PA activation for the 42-kDa protein and for PLD42/20 indicates that an intact C-terminal region of PLD57 is necessary for activation by PA. Furthermore, the mechanism for transmission of the allosteric signal requires an intact PLD57. (+info)Serine transhydroxymethylase from rabbit liver. Sequence of anonapeptide at the pyridoxal-5'-phosphate-binding site. (6/1662)
The amino acid sequence of the coenzyme-binding site of serine transhydroxymethylase from rabbit liver has been determined. After reduction with NaBH4 and aminoethylation, a first sample of enzyme was digested with thermolysin and a single phosphopyridoxyl peptide was isolated. A second sample of similarly treated enzyme was digested with chymotrypsin and three phosphopyridoxyl peptides clearly originating from a unique coenzyme-binding site were isolated. Sequence analysis of these peptides indicate the following structure: Val-Val-Thr-Thr-His(Pxy)-Thr-Leu. Sequence homologies of the active site of various pyridoxalphosphate enzymes are discussed in terms of a possible catalytic role and of evolution of this class of proteins. (+info)Bordetella pertussis waaA encodes a monofunctional 2-keto-3-deoxy-D-manno-octulosonic acid transferase that can complement an Escherichia coli waaA mutation. (7/1662)
Bordetella pertussis lipopolysaccharide (LPS) contains a single 2-keto-3-deoxy-D-manno-octulosonic acid (Kdo) residue, whereas LPS from Escherichia coli contains at least two. Here we report that B. pertussis waaA encodes an enzyme capable of transferring only a single Kdo during the biosynthesis of LPS and that this activity is sufficient to complement an E. coli waaA mutation. (+info)Expression of prokaryotic 1-deoxy-D-xylulose-5-phosphatases in Escherichia coli increases carotenoid and ubiquinone biosynthesis. (8/1662)
Isopentenyl diphosphate (IPP) acts as the common, five-carbon building block in the biosynthesis of all isoprenoids. The first reaction of IPP biosynthesis in Escherichia coli is the formation of 1-deoxy-D-xylulose-5-phosphate, catalysed by 1-deoxy-D-xylulose-5-phosphate synthase (DXPS). E. coli engineered to produce lycopene, was transformed with dxps genes cloned from Bacillus subtilis and Synechocystis sp. 6803. Increases in lycopene levels were observed in strains expressing exogenous DXPS compared to controls. The recombinant strains also exhibited elevated levels of ubiquinone-8. These increases corresponded with enhanced DXP synthase activity in the recombinant E. coli strains. (+info)There are two main types of galactosemia:
1. Classical galactosemia: This is the most severe form of the disorder, and it is characterized by a complete lack of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Without GALT, galactose builds up in the blood and tissues, leading to serious health problems.
2. Dialectical galactosemia: This form of the disorder is less severe than classical galactosemia, and it is characterized by a partial deficiency of GALT. People with dialectical galactosemia may experience some symptoms, but they are typically milder than those experienced by people with classical galactosemia.
Symptoms of galactosemia can include:
* Diarrhea
* Vomiting
* Jaundice (yellowing of the skin and eyes)
* Fatigue
* Poor feeding in infants
* Developmental delays
If left untreated, galactosemia can lead to a range of complications, including:
* Liver disease
* Kidney disease
* Increased risk of infections
* Delayed growth and development
The diagnosis of galactosemia is typically made through a combination of physical examination, medical history, and laboratory tests. Treatment for the disorder typically involves a strict diet that limits or eliminates galactose-containing foods, such as milk and other dairy products. In some cases, medication may also be prescribed to help manage symptoms.
Overall, early diagnosis and treatment of galactosemia are important for preventing or minimizing the risk of complications associated with this condition.
Term: Lesch-Nyhan Syndrome
Definition: A rare X-linked recessive genetic disorder caused by mutations in the HPRT1 gene, resulting in an impaired ability to metabolize uric acid and leading to symptoms such as gout, kidney stones, and other complications.
Etymology: Named after the physicians who first described the condition, Lesch and Nyhan.
Incidence: Approximately 1 in 165,000 male births.
Prevalence: Estimated to affect approximately 1 in 23,000 males worldwide.
Causes: Mutations in the HPRT1 gene, which codes for the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme is involved in the metabolism of uric acid.
Symptoms: Gout attacks, kidney stones, joint pain and swelling, urate nephropathy (kidney damage), and other complications.
Diagnosis: Diagnosed through a combination of clinical evaluation, laboratory tests such as blood and urine analysis, and genetic testing to identify HPRT1 gene mutations.
Treatment: Medications to reduce uric acid levels, such as allopurinol or rasburicase, and management of symptoms such as pain and inflammation with nonsteroidal anti-inflammatory drugs (NSAIDs) or colchicine.
Prognosis: The condition is usually diagnosed in childhood, and patients often have a normal life expectancy if properly managed. However, untreated or poorly managed hyperuricemia can lead to complications such as kidney damage and cardiovascular disease.
Inheritance pattern: Autosomal recessive inheritance pattern, meaning that the individual must inherit two copies of the mutated HPRT1 gene (one from each parent) in order to develop the condition.
Other names: Hyperuricemia, gout, Lesch-Nyhan syndrome.
The two main types of lymphoid leukemia are:
1. Acute Lymphoblastic Leukemia (ALL): This type of leukemia is most commonly seen in children, but it can also occur in adults. It is characterized by a rapid increase in the number of immature white blood cells in the blood and bone marrow.
2. Chronic Lymphocytic Leukemia (CLL): This type of leukemia usually affects older adults and is characterized by the gradual buildup of abnormal white blood cells in the blood, bone marrow, and lymph nodes.
Symptoms of lymphoid leukemia include fatigue, fever, night sweats, weight loss, and swollen lymph nodes. Treatment options for lymphoid leukemia can vary depending on the type of cancer and the severity of symptoms, but may include chemotherapy, radiation therapy, or bone marrow transplantation.
Diagnosis of monieziasis typically involves a combination of physical examination, medical history, and laboratory tests such as fecal examination or endoscopy. Treatment typically involves the use of anthelmintic medications to kill the parasites, and supportive care to manage symptoms such as pain and diarrhea. In severe cases, hospitalization may be necessary to monitor and treat complications.
Prevention of monieziasis primarily involves good hygiene practices such as washing hands before eating or preparing food, avoiding close contact with individuals who have the infection, and avoiding consumption of undercooked or raw meat. In areas where the parasite is common, regular deworming programs can also help to reduce the risk of infection.
The prognosis for monieziasis is generally good if treatment is prompt and effective. However, complications such as intestinal obstruction, perforation, or abscesses can occur if left untreated, and can be life-threatening. It is important to seek medical attention if symptoms persist or worsen over time.
Overall, monieziasis is a rare but potentially serious condition that requires prompt diagnosis and treatment to prevent complications and ensure a good outcome.
Examples of experimental liver neoplasms include:
1. Hepatocellular carcinoma (HCC): This is the most common type of primary liver cancer and can be induced experimentally by injecting carcinogens such as diethylnitrosamine (DEN) or dimethylbenz(a)anthracene (DMBA) into the liver tissue of animals.
2. Cholangiocarcinoma: This type of cancer originates in the bile ducts within the liver and can be induced experimentally by injecting chemical carcinogens such as DEN or DMBA into the bile ducts of animals.
3. Hepatoblastoma: This is a rare type of liver cancer that primarily affects children and can be induced experimentally by administering chemotherapy drugs to newborn mice or rats.
4. Metastatic tumors: These are tumors that originate in other parts of the body and spread to the liver through the bloodstream or lymphatic system. Experimental models of metastatic tumors can be studied by injecting cancer cells into the liver tissue of animals.
The study of experimental liver neoplasms is important for understanding the underlying mechanisms of liver cancer development and progression, as well as identifying potential therapeutic targets for the treatment of this disease. Animal models can be used to test the efficacy of new drugs or therapies before they are tested in humans, which can help to accelerate the development of new treatments for liver cancer.
Crigler-Najjar syndrome is a rare genetic disorder that affects the liver and causes it to be unable to break down bilirubin, a yellow pigment found in the blood. This results in a buildup of bilirubin in the blood and can lead to jaundice, which is characterized by a yellowish tint to the skin and whites of the eyes.
There are two types of Crigler-Najjar syndrome: type 1 and type 2. Type 1 is caused by a deficiency of the enzyme glucuronyltransferase, which is necessary for the breakdown of bilirubin. Type 2 is caused by a deficiency of the enzyme UDP-glucuronosyltransferase. Both types can be inherited from one's parents or can be acquired through mutations that occur spontaneously.
Symptoms of Crigler-Najjar syndrome include jaundice, yellowing of the skin and whites of the eyes, dark urine, itching all over the body, and a higher risk of liver disease. Treatment for Crigler-Najjar syndrome typically involves managing the symptoms and preventing complications. This may include phototherapy to help break down bilirubin, medications to reduce jaundice, and careful monitoring of the liver function. In severe cases, a liver transplant may be necessary.
Overall, Crigler-Najjar syndrome is a rare and potentially serious genetic disorder that affects the liver's ability to break down bilirubin. With proper management and care, individuals with this condition can lead relatively normal lives.
1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.
2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.
3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.
4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.
5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.
6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.
7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.
8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.
9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.
10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.
There are several different types of leukemia, including:
1. Acute Lymphoblastic Leukemia (ALL): This is the most common type of leukemia in children, but it can also occur in adults. It is characterized by an overproduction of immature white blood cells called lymphoblasts.
2. Acute Myeloid Leukemia (AML): This type of leukemia affects the bone marrow's ability to produce red blood cells, platelets, and other white blood cells. It can occur at any age but is most common in adults.
3. Chronic Lymphocytic Leukemia (CLL): This type of leukemia affects older adults and is characterized by the slow growth of abnormal white blood cells called lymphocytes.
4. Chronic Myeloid Leukemia (CML): This type of leukemia is caused by a genetic mutation in a gene called BCR-ABL. It can occur at any age but is most common in adults.
5. Hairy Cell Leukemia: This is a rare type of leukemia that affects older adults and is characterized by the presence of abnormal white blood cells called hairy cells.
6. Myelodysplastic Syndrome (MDS): This is a group of disorders that occur when the bone marrow is unable to produce healthy blood cells. It can lead to leukemia if left untreated.
Treatment for leukemia depends on the type and severity of the disease, but may include chemotherapy, radiation therapy, targeted therapy, or stem cell transplantation.
Symptoms of OCTD typically appear during infancy and may include seizures, developmental delays, poor muscle tone, and abnormal brain activity (as detected by electroencephalogram (EEG)). Without treatment, OCTD can lead to serious health complications such as stroke, intellectual disability, and death. Treatment involves a strict diet that limits protein intake and supplementation with essential nutrients to support growth and development.
OCTD is usually diagnosed by measuring the activity of OCT enzyme in white blood cells or using genetic testing to identify mutations in the OCTD1 gene. Treatment options for OCTD are limited, but early detection and proper management can significantly improve outcomes for affected individuals.
There are several types of ketosis, including:
1. Nutritional ketosis: This is the most common type of ketosis and is achieved through a low-carb diet.
2. Therapeutic ketosis: This type of ketosis is used to treat medical conditions such as epilepsy, type 2 diabetes, and Alzheimer's disease.
3. Exogenous ketosis: This type of ketosis is achieved through the use of supplements that stimulate ketone production, such as ketone esters or medium-chain triglycerides (MCTs).
4. Endogenous ketosis: This type of ketosis is achieved through fasting or a very low-carb diet and is characterized by the body's natural production of ketones.
The benefits of ketosis include weight loss, improved blood sugar control, increased energy levels, and reduced inflammation. However, it can also have some drawbacks such as constipation, bad breath, and muscle cramps. It is important to consult a healthcare professional before starting any type of ketosis plan, especially if you have any underlying medical conditions.
The definition of DILI has been revised several times over the years, but the most recent definition was published in 2013 by the International Consortium for DILI Research (ICDCR). According to this definition, DILI is defined as:
"A clinically significant alteration in liver function that is caused by a medication or other exogenous substance, and is not related to underlying liver disease. The alteration may be biochemical, morphological, or both, and may be acute or chronic."
The ICDCR definition includes several key features of DILI, including:
1. Clinically significant alteration in liver function: This means that the liver damage must be severe enough to cause symptoms or signs of liver dysfunction, such as jaundice, nausea, vomiting, or abdominal pain.
2. Caused by a medication or other exogenous substance: DILI is triggered by exposure to certain drugs or substances that are not related to underlying liver disease.
3. Not related to underlying liver disease: This means that the liver damage must not be caused by an underlying condition such as hepatitis B or C, alcoholic liver disease, or other genetic or metabolic disorders.
4. May be acute or chronic: DILI can occur as a sudden and severe injury (acute DILI) or as a slower and more insidious process (chronic DILI).
The ICDCR definition provides a standardized way of defining and diagnosing DILI, which is important for clinicians and researchers to better understand the cause of liver damage in patients who are taking medications. It also helps to identify the drugs or substances that are most likely to cause liver injury and to develop strategies for preventing or treating DILI.
Myeloid leukemia can be classified into several subtypes based on the type of cell involved and the degree of maturity of the abnormal cells. The most common types of myeloid leukemia include:
1. Acute Myeloid Leukemia (AML): This is the most aggressive form of myeloid leukemia, characterized by a rapid progression of immature cells that do not mature or differentiate into normal cells. AML can be further divided into several subtypes based on the presence of certain genetic mutations or chromosomal abnormalities.
2. Chronic Myeloid Leukemia (CML): This is a slower-growing form of myeloid leukemia, characterized by the presence of a genetic abnormality known as the Philadelphia chromosome. CML is typically treated with targeted therapies or bone marrow transplantation.
3. Myelodysplastic Syndrome (MDS): This is a group of disorders characterized by the impaired development of immature blood cells in the bone marrow. MDS can progress to AML if left untreated.
4. Chronic Myelomonocytic Leukemia (CMML): This is a rare form of myeloid leukemia that is characterized by the accumulation of immature monocytes in the blood and bone marrow. CMML can be treated with chemotherapy or bone marrow transplantation.
The symptoms of myeloid leukemia can vary depending on the subtype and severity of the disease. Common symptoms include fatigue, weakness, fever, night sweats, and weight loss. Diagnosis is typically made through a combination of physical examination, blood tests, and bone marrow biopsy. Treatment options for myeloid leukemia can include chemotherapy, targeted therapies, bone marrow transplantation, and supportive care to manage symptoms and prevent complications. The prognosis for myeloid leukemia varies depending on the subtype of the disease and the patient's overall health. With current treatments, many patients with myeloid leukemia can achieve long-term remission or even be cured.
There are many different types of liver diseases, including:
1. Alcoholic liver disease (ALD): A condition caused by excessive alcohol consumption that can lead to inflammation, scarring, and cirrhosis.
2. Viral hepatitis: Hepatitis A, B, and C are viral infections that can cause inflammation and damage to the liver.
3. Non-alcoholic fatty liver disease (NAFLD): A condition where there is an accumulation of fat in the liver, which can lead to inflammation and scarring.
4. Cirrhosis: A condition where the liver becomes scarred and cannot function properly.
5. Hemochromatosis: A genetic disorder that causes the body to absorb too much iron, which can damage the liver and other organs.
6. Wilson's disease: A rare genetic disorder that causes copper to accumulate in the liver and brain, leading to damage and scarring.
7. Liver cancer (hepatocellular carcinoma): Cancer that develops in the liver, often as a result of cirrhosis or viral hepatitis.
Symptoms of liver disease can include fatigue, loss of appetite, nausea, abdominal pain, dark urine, pale stools, and swelling in the legs. Treatment options for liver disease depend on the underlying cause and may include lifestyle changes, medication, or surgery. In severe cases, a liver transplant may be necessary.
Prevention of liver disease includes maintaining a healthy diet and lifestyle, avoiding excessive alcohol consumption, getting vaccinated against hepatitis A and B, and managing underlying medical conditions such as obesity and diabetes. Early detection and treatment of liver disease can help to prevent long-term damage and improve outcomes for patients.
Some common examples of purine-pyrimidine metabolism, inborn errors include:
1. Adenine sulfate accumulation: This disorder is caused by a deficiency of the enzyme adenylosuccinase, which is needed to break down adenine sulfate. The build-up of this compound can lead to developmental delays, intellectual disability, and seizures.
2. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency: This disorder is caused by a lack of the enzyme HGPRT, which is needed to break down hypoxanthine and guanine. The build-up of these compounds can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
3. Phosphoribosylpyrophosphate synthase (PRPS) deficiency: This disorder is caused by a lack of the enzyme PRPS, which is needed to break down phosphoribosylpyrophosphate. The build-up of this compound can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
4. Purine nucleotide phosphorylase (PNP) deficiency: This disorder is caused by a lack of the enzyme PNP, which is needed to break down purine nucleotides. The build-up of these compounds can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
5. Adenylosuccinate lyase (ADSL) deficiency: This disorder is caused by a lack of the enzyme ADSL, which is needed to break down adenylosuccinate. The build-up of this compound can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
6. Leukemia-lymphoma-related gene (LRG) deficiency: This disorder is caused by a lack of the LRG gene, which is needed for the development of immune cells. The build-up of abnormal immune cells can lead to an increased risk of leukemia and lymphoma.
7. Methylmalonyl-CoA mutase (MUT) deficiency: This disorder is caused by a lack of the enzyme MUT, which is needed to break down methylmalonyl-CoA. The build-up of this compound can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
8. Mycobacterium avium intracellulare infection: This disorder is caused by an infection with the bacteria Mycobacterium avium intracellulare. The infection can lead to a variety of symptoms, including fever, fatigue, and weight loss.
9. NAD+ transhydrogenase (NAT) deficiency: This disorder is caused by a lack of the enzyme NAT, which is needed to break down NAD+. The build-up of this compound can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
10. Neuronal ceroid lipofuscinosis (NCL) diseases: These disorders are caused by a lack of the enzyme ALDH7A1, which is needed to break down certain fats in the body. The build-up of these fats can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
11. Phenylketonuria (PKU): This disorder is caused by a lack of the enzyme phenylalanine hydroxylase (PAH), which is needed to break down the amino acid phenylalanine. The build-up of phenylalanine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
12. Propionic acidemia: This disorder is caused by a lack of the enzyme propionyl-CoA carboxytransferase (PCC), which is needed to break down the amino acid propionate. The build-up of propionate can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
13. Methylmalonic acidemia: This disorder is caused by a lack of the enzyme methylmalonyl-CoA mutase (MCM), which is needed to break down the amino acid methionine. The build-up of methylmalonyl-CoA can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
14. Homocystinuria: This disorder is caused by a lack of the enzyme cystathionine beta-synthase (CBS), which is needed to break down the amino acid homocysteine. The build-up of homocysteine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
15. maple syrup urine disease (MSUD): This disorder is caused by a lack of the enzyme branched-chain alpha-keto acid dehydrogenase (BCKDH), which is needed to break down the amino acids leucine, isoleucine, and valine. The build-up of these amino acids can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
16. Tyrosinemia type I: This disorder is caused by a lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break down the amino acid tyrosine. The build-up of tyrosine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
17. Hereditary tyrosinemia type II: This disorder is caused by a lack of the enzyme tyrosine ammonia lyase (TAL), which is needed to break down the amino acid tyrosine. The build-up of tyrosine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
18. Galactosemia: This disorder is caused by a lack of the enzyme galactose-1-phosphate uridylyltransferase (GALT), which is needed to break down the sugar galactose. The build-up of galactose can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
19. Phenylketonuria (PKU): This disorder is caused by a lack of the enzyme phenylalanine hydroxylase (PAH), which is needed to break down the amino acid phenylalanine. The build-up of phenylalanine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
20. Methylmalonic acidemia (MMA): This disorder is caused by a lack of the enzyme methylmalonyl-CoA mutase (MCM), which is needed to break down the amino acids methionine and homocysteine. The build-up of these amino acids can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
In addition to these specific disorders, there are also many other inborn errors of metabolism that can affect various aspects of the body, including the nervous system, the skin, and the muscles. These disorders can be caused by a variety of genetic mutations, and they can have a wide range of symptoms and effects on the body.
Overall, inborn errors of metabolism are a group of rare genetic disorders that can affect various aspects of the body and can have serious health consequences if left untreated. These disorders are often diagnosed through newborn screening programs, and they can be managed with dietary changes, medication, and other treatments. With appropriate treatment, many individuals with inborn errors of metabolism can lead active and productive lives.
Liver neoplasms, also known as liver tumors or hepatic tumors, are abnormal growths of tissue in the liver. These growths can be benign (non-cancerous) or malignant (cancerous). Malignant liver tumors can be primary, meaning they originate in the liver, or metastatic, meaning they spread to the liver from another part of the body.
There are several types of liver neoplasms, including:
1. Hepatocellular carcinoma (HCC): This is the most common type of primary liver cancer and arises from the main cells of the liver (hepatocytes). HCC is often associated with cirrhosis and can be caused by viral hepatitis or alcohol abuse.
2. Cholangiocarcinoma: This type of cancer arises from the cells lining the bile ducts within the liver (cholangiocytes). Cholangiocarcinoma is rare and often diagnosed at an advanced stage.
3. Hemangiosarcoma: This is a rare type of cancer that originates in the blood vessels of the liver. It is most commonly seen in dogs but can also occur in humans.
4. Fibromas: These are benign tumors that arise from the connective tissue of the liver (fibrocytes). Fibromas are usually small and do not spread to other parts of the body.
5. Adenomas: These are benign tumors that arise from the glandular cells of the liver (hepatocytes). Adenomas are usually small and do not spread to other parts of the body.
The symptoms of liver neoplasms vary depending on their size, location, and whether they are benign or malignant. Common symptoms include abdominal pain, fatigue, weight loss, and jaundice (yellowing of the skin and eyes). Diagnosis is typically made through a combination of imaging tests such as CT scans, MRI scans, and ultrasound, and a biopsy to confirm the presence of cancer cells.
Treatment options for liver neoplasms depend on the type, size, location, and stage of the tumor, as well as the patient's overall health. Surgery may be an option for some patients with small, localized tumors, while others may require chemotherapy or radiation therapy to shrink the tumor before surgery can be performed. In some cases, liver transplantation may be necessary.
Prognosis for liver neoplasms varies depending on the type and stage of the cancer. In general, early detection and treatment improve the prognosis, while advanced-stage disease is associated with a poorer prognosis.
AML is a fast-growing and aggressive form of leukemia that can spread to other parts of the body through the bloodstream. It is most commonly seen in adults over the age of 60, but it can also occur in children.
There are several subtypes of AML, including:
1. Acute promyelocytic leukemia (APL): This is a subtype of AML that is characterized by the presence of a specific genetic abnormality called the PML-RARA fusion gene. It is usually responsive to treatment with chemotherapy and has a good prognosis.
2. Acute myeloid leukemia, not otherwise specified (NOS): This is the most common subtype of AML and does not have any specific genetic abnormalities. It can be more difficult to treat and has a poorer prognosis than other subtypes.
3. Chronic myelomonocytic leukemia (CMML): This is a subtype of AML that is characterized by the presence of too many immature white blood cells called monocytes in the blood and bone marrow. It can progress slowly over time and may require ongoing treatment.
4. Juvenile myeloid leukemia (JMML): This is a rare subtype of AML that occurs in children under the age of 18. It is characterized by the presence of too many immature white blood cells called blasts in the blood and bone marrow.
The symptoms of AML can vary depending on the subtype and the severity of the disease, but they may include:
* Fatigue
* Weakness
* Shortness of breath
* Pale skin
* Easy bruising or bleeding
* Swollen lymph nodes, liver, or spleen
* Bone pain
* Headache
* Confusion or seizures
AML is diagnosed through a combination of physical examination, medical history, and diagnostic tests such as:
1. Complete blood count (CBC): This test measures the number and types of cells in the blood, including red blood cells, white blood cells, and platelets.
2. Bone marrow biopsy: This test involves removing a small sample of bone marrow tissue from the hipbone or breastbone to examine under a microscope for signs of leukemia cells.
3. Genetic testing: This test can help identify specific genetic abnormalities that are associated with AML.
4. Immunophenotyping: This test uses antibodies to identify the surface proteins on leukemia cells, which can help diagnose the subtype of AML.
5. Cytogenetics: This test involves staining the bone marrow cells with dyes to look for specific changes in the chromosomes that are associated with AML.
Treatment for AML typically involves a combination of chemotherapy, targeted therapy, and in some cases, bone marrow transplantation. The specific treatment plan will depend on the subtype of AML, the patient's age and overall health, and other factors. Some common treatments for AML include:
1. Chemotherapy: This involves using drugs to kill cancer cells. The most commonly used chemotherapy drugs for AML are cytarabine (Ara-C) and anthracyclines such as daunorubicin (DaunoXome) and idarubicin (Idamycin).
2. Targeted therapy: This involves using drugs that specifically target the genetic abnormalities that are causing the cancer. Examples of targeted therapies used for AML include midostaurin (Rydapt) and gilteritinib (Xospata).
3. Bone marrow transplantation: This involves replacing the diseased bone marrow with healthy bone marrow from a donor. This is typically done after high-dose chemotherapy to destroy the cancer cells.
4. Supportive care: This includes treatments to manage symptoms and side effects of the disease and its treatment, such as anemia, infection, and bleeding. Examples of supportive care for AML include blood transfusions, antibiotics, and platelet transfusions.
5. Clinical trials: These are research studies that involve testing new treatments for AML. Participating in a clinical trial may give patients access to innovative therapies that are not yet widely available.
It's important to note that the treatment plan for AML is highly individualized, and the specific treatments used will depend on the patient's age, overall health, and other factors. Patients should work closely with their healthcare team to determine the best course of treatment for their specific needs.
There are several possible causes of hyperbilirubinemia, including:
1. Hemolytic anemia: This is a condition where red blood cells are broken down faster than they can be replaced, leading to an accumulation of bilirubin in the blood.
2. Liver dysfunction: The liver plays a crucial role in processing and eliminating bilirubin from the body. If the liver is not functioning properly, bilirubin levels can become elevated.
3. Sepsis: This is a systemic infection that can cause inflammation throughout the body, including the liver, which can disrupt the normal processing of bilirubin.
4. Neonatal jaundice: This is a condition that affects newborn babies and is caused by an immature liver that is unable to process bilirubin quickly enough.
Symptoms of hyperbilirubinemia can include yellowing of the skin and whites of the eyes (jaundice), dark urine, pale or clay-colored stools, and fatigue. In severe cases, hyperbilirubinemia can lead to kernicterus, a condition that can cause brain damage and hearing loss.
Diagnosis of hyperbilirubinemia is typically made through blood tests that measure the level of bilirubin in the blood. Treatment depends on the underlying cause of the condition and may include blood transfusions, liver function tests, and phototherapy (exposure to light) to help break down bilirubin. In severe cases, hospitalization may be necessary to monitor and treat the condition.
Necrosis is a type of cell death that occurs when cells are exposed to excessive stress, injury, or inflammation, leading to damage to the cell membrane and the release of cellular contents into the surrounding tissue. This can lead to the formation of gangrene, which is the death of body tissue due to lack of blood supply.
There are several types of necrosis, including:
1. Coagulative necrosis: This type of necrosis occurs when there is a lack of blood supply to the tissues, leading to the formation of a firm, white plaque on the surface of the affected area.
2. Liquefactive necrosis: This type of necrosis occurs when there is an infection or inflammation that causes the death of cells and the formation of pus.
3. Caseous necrosis: This type of necrosis occurs when there is a chronic infection, such as tuberculosis, and the affected tissue becomes soft and cheese-like.
4. Fat necrosis: This type of necrosis occurs when there is trauma to fatty tissue, leading to the formation of firm, yellowish nodules.
5. Necrotizing fasciitis: This is a severe and life-threatening form of necrosis that affects the skin and underlying tissues, often as a result of bacterial infection.
The diagnosis of necrosis is typically made through a combination of physical examination, imaging studies such as X-rays or CT scans, and laboratory tests such as biopsy. Treatment depends on the underlying cause of the necrosis and may include antibiotics, surgical debridement, or amputation in severe cases.
The main symptoms of choroideremia include:
1. Progressive vision loss: Patients with choroideremia experience a gradual decline in vision, starting with difficulty seeing in low light conditions and peripheral vision impairment.
2. Blind spots: Patients may develop blind spots or scotomas in their visual field, which can affect their ability to read, drive, or perform other daily tasks.
3. Eye movements: Choroideremia patients may experience abnormal eye movements, including nystagmus (involuntary eye movements) and photophobia (sensitivity to light).
4. Macular degeneration: As the condition progresses, patients may develop macular degeneration, which can lead to central vision loss.
5. Retinal degeneration: Choroideremia is characterized by progressive retinal degeneration, which can result in significant visual impairment and blindness.
6. Pigmentary changes: Patients with choroideremia may experience pigmentary changes in the retina, including the presence of hypopigmented or hyperpigmented spots.
7. Optic atrophy: Choroideremia can cause optic atrophy, which is the degeneration of the optic nerve and surrounding tissue.
8. Increased risk of other eye conditions: Patients with choroideremia may be at increased risk of developing other eye conditions, such as cataracts, glaucoma, and retinal detachment.
9. Impact on daily life: Choroideremia can significantly impact a patient's daily life, affecting their ability to perform daily activities, read, drive, and participate in social and recreational activities.
10. Limited treatment options: There is currently no cure for choroideremia, and treatment options are limited to management of symptoms and slowing the progression of the disease.
In summary, choroideremia is a rare genetic disorder that affects the retina and can cause significant visual impairment and blindness. It is characterized by progressive retinal degeneration, pigmentary changes, optic atrophy, increased risk of other eye conditions, and a significant impact on daily life. There are limited treatment options available for this condition, and research is ongoing to develop new therapies and improve patient outcomes.
There are several risk factors for developing HCC, including:
* Cirrhosis, which can be caused by heavy alcohol consumption, viral hepatitis (such as hepatitis B and C), or fatty liver disease
* Family history of liver disease
* Chronic obstructive pulmonary disease (COPD)
* Diabetes
* Obesity
HCC can be challenging to diagnose, as the symptoms are non-specific and can be similar to those of other conditions. However, some common symptoms of HCC include:
* Yellowing of the skin and eyes (jaundice)
* Fatigue
* Loss of appetite
* Abdominal pain or discomfort
* Weight loss
If HCC is suspected, a doctor may perform several tests to confirm the diagnosis, including:
* Imaging tests, such as ultrasound, CT scan, or MRI, to look for tumors in the liver
* Blood tests to check for liver function and detect certain substances that are produced by the liver
* Biopsy, which involves removing a small sample of tissue from the liver to examine under a microscope
Once HCC is diagnosed, treatment options will depend on several factors, including the stage and location of the cancer, the patient's overall health, and their personal preferences. Treatment options may include:
* Surgery to remove the tumor or parts of the liver
* Ablation, which involves destroying the cancer cells using heat or cold
* Chemoembolization, which involves injecting chemotherapy drugs into the hepatic artery to reach the cancer cells
* Targeted therapy, which uses drugs or other substances to target specific molecules that are involved in the growth and spread of the cancer
Overall, the prognosis for HCC is poor, with a 5-year survival rate of approximately 20%. However, early detection and treatment can improve outcomes. It is important for individuals at high risk for HCC to be monitored regularly by a healthcare provider, and to seek medical attention if they experience any symptoms.
There are several types of lymphoma, including:
1. Hodgkin lymphoma: This is a type of lymphoma that originates in the white blood cells called Reed-Sternberg cells. It is characterized by the presence of giant cells with multiple nucleoli.
2. Non-Hodgkin lymphoma (NHL): This is a type of lymphoma that does not meet the criteria for Hodgkin lymphoma. There are many subtypes of NHL, each with its own unique characteristics and behaviors.
3. Cutaneous lymphoma: This type of lymphoma affects the skin and can take several forms, including cutaneous B-cell lymphoma and cutaneous T-cell lymphoma.
4. Primary central nervous system (CNS) lymphoma: This is a rare type of lymphoma that develops in the brain or spinal cord.
5. Post-transplantation lymphoproliferative disorder (PTLD): This is a type of lymphoma that develops in people who have undergone an organ transplant, often as a result of immunosuppressive therapy.
The symptoms of lymphoma can vary depending on the type and location of the cancer. Some common symptoms include:
* Swollen lymph nodes
* Fever
* Fatigue
* Weight loss
* Night sweats
* Itching
Lymphoma is diagnosed through a combination of physical examination, imaging tests (such as CT scans or PET scans), and biopsies. Treatment options for lymphoma depend on the type and stage of the cancer, and may include chemotherapy, radiation therapy, immunotherapy, or stem cell transplantation.
Overall, lymphoma is a complex and diverse group of cancers that can affect people of all ages and backgrounds. While it can be challenging to diagnose and treat, advances in medical technology and research have improved the outlook for many patients with lymphoma.
Neoplasm refers to an abnormal growth of cells that can be benign (non-cancerous) or malignant (cancerous). Neoplasms can occur in any part of the body and can affect various organs and tissues. The term "neoplasm" is often used interchangeably with "tumor," but while all tumors are neoplasms, not all neoplasms are tumors.
Types of Neoplasms
There are many different types of neoplasms, including:
1. Carcinomas: These are malignant tumors that arise in the epithelial cells lining organs and glands. Examples include breast cancer, lung cancer, and colon cancer.
2. Sarcomas: These are malignant tumors that arise in connective tissue, such as bone, cartilage, and fat. Examples include osteosarcoma (bone cancer) and soft tissue sarcoma.
3. Lymphomas: These are cancers of the immune system, specifically affecting the lymph nodes and other lymphoid tissues. Examples include Hodgkin lymphoma and non-Hodgkin lymphoma.
4. Leukemias: These are cancers of the blood and bone marrow that affect the white blood cells. Examples include acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
5. Melanomas: These are malignant tumors that arise in the pigment-producing cells called melanocytes. Examples include skin melanoma and eye melanoma.
Causes and Risk Factors of Neoplasms
The exact causes of neoplasms are not fully understood, but there are several known risk factors that can increase the likelihood of developing a neoplasm. These include:
1. Genetic predisposition: Some people may be born with genetic mutations that increase their risk of developing certain types of neoplasms.
2. Environmental factors: Exposure to certain environmental toxins, such as radiation and certain chemicals, can increase the risk of developing a neoplasm.
3. Infection: Some neoplasms are caused by viruses or bacteria. For example, human papillomavirus (HPV) is a common cause of cervical cancer.
4. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and a poor diet can increase the risk of developing certain types of neoplasms.
5. Family history: A person's risk of developing a neoplasm may be higher if they have a family history of the condition.
Signs and Symptoms of Neoplasms
The signs and symptoms of neoplasms can vary depending on the type of cancer and where it is located in the body. Some common signs and symptoms include:
1. Unusual lumps or swelling
2. Pain
3. Fatigue
4. Weight loss
5. Change in bowel or bladder habits
6. Unexplained bleeding
7. Coughing up blood
8. Hoarseness or a persistent cough
9. Changes in appetite or digestion
10. Skin changes, such as a new mole or a change in the size or color of an existing mole.
Diagnosis and Treatment of Neoplasms
The diagnosis of a neoplasm usually involves a combination of physical examination, imaging tests (such as X-rays, CT scans, or MRI scans), and biopsy. A biopsy involves removing a small sample of tissue from the suspected tumor and examining it under a microscope for cancer cells.
The treatment of neoplasms depends on the type, size, location, and stage of the cancer, as well as the patient's overall health. Some common treatments include:
1. Surgery: Removing the tumor and surrounding tissue can be an effective way to treat many types of cancer.
2. Chemotherapy: Using drugs to kill cancer cells can be effective for some types of cancer, especially if the cancer has spread to other parts of the body.
3. Radiation therapy: Using high-energy radiation to kill cancer cells can be effective for some types of cancer, especially if the cancer is located in a specific area of the body.
4. Immunotherapy: Boosting the body's immune system to fight cancer can be an effective treatment for some types of cancer.
5. Targeted therapy: Using drugs or other substances to target specific molecules on cancer cells can be an effective treatment for some types of cancer.
Prevention of Neoplasms
While it is not always possible to prevent neoplasms, there are several steps that can reduce the risk of developing cancer. These include:
1. Avoiding exposure to known carcinogens (such as tobacco smoke and radiation)
2. Maintaining a healthy diet and lifestyle
3. Getting regular exercise
4. Not smoking or using tobacco products
5. Limiting alcohol consumption
6. Getting vaccinated against certain viruses that are associated with cancer (such as human papillomavirus, or HPV)
7. Participating in screening programs for early detection of cancer (such as mammograms for breast cancer and colonoscopies for colon cancer)
8. Avoiding excessive exposure to sunlight and using protective measures such as sunscreen and hats to prevent skin cancer.
It's important to note that not all cancers can be prevented, and some may be caused by factors that are not yet understood or cannot be controlled. However, by taking these steps, individuals can reduce their risk of developing cancer and improve their overall health and well-being.
Examples of inborn errors of metabolism include:
1. Phenylketonuria (PKU): A disorder that affects the body's ability to break down the amino acid phenylalanine, leading to a buildup of this substance in the blood and brain.
2. Hypothyroidism: A condition in which the thyroid gland does not produce enough thyroid hormones, leading to developmental delays, intellectual disability, and other health problems.
3. Maple syrup urine disease (MSUD): A disorder that affects the body's ability to break down certain amino acids, leading to a buildup of these substances in the blood and urine.
4. Glycogen storage diseases: A group of disorders that affect the body's ability to store and use glycogen, a form of carbohydrate energy.
5. Mucopolysaccharidoses (MPS): A group of disorders that affect the body's ability to produce and break down certain sugars, leading to a buildup of these substances in the body.
6. Citrullinemia: A disorder that affects the body's ability to break down the amino acid citrulline, leading to a buildup of this substance in the blood and urine.
7. Homocystinuria: A disorder that affects the body's ability to break down certain amino acids, leading to a buildup of these substances in the blood and urine.
8. Tyrosinemia: A disorder that affects the body's ability to break down the amino acid tyrosine, leading to a buildup of this substance in the blood and liver.
Inborn errors of metabolism can be diagnosed through a combination of physical examination, medical history, and laboratory tests such as blood and urine tests. Treatment for these disorders varies depending on the specific condition and may include dietary changes, medication, and other therapies. Early detection and treatment can help manage symptoms and prevent complications.
Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.
Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.
In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.
It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.
See also: Cancer, Tumor
Word count: 190
Examples of experimental leukemias include:
1. X-linked agammaglobulinemia (XLA): A rare inherited disorder that leads to a lack of antibody production and an increased risk of infections.
2. Diamond-Blackfan anemia (DBA): A rare inherited disorder characterized by a failure of red blood cells to mature in the bone marrow.
3. Fanconi anemia: A rare inherited disorder that leads to a defect in DNA repair and an increased risk of cancer, particularly leukemia.
4. Ataxia-telangiectasia (AT): A rare inherited disorder characterized by progressive loss of coordination, balance, and speech, as well as an increased risk of cancer, particularly lymphoma.
5. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21, which increases the risk of developing leukemia, particularly acute myeloid leukemia (AML).
These experimental leukemias are often used in research studies to better understand the biology of leukemia and to develop new treatments.
Body weight is an important health indicator, as it can affect an individual's risk for certain medical conditions, such as obesity, diabetes, and cardiovascular disease. Maintaining a healthy body weight is essential for overall health and well-being, and there are many ways to do so, including a balanced diet, regular exercise, and other lifestyle changes.
There are several ways to measure body weight, including:
1. Scale: This is the most common method of measuring body weight, and it involves standing on a scale that displays the individual's weight in kg or lb.
2. Body fat calipers: These are used to measure body fat percentage by pinching the skin at specific points on the body.
3. Skinfold measurements: This method involves measuring the thickness of the skin folds at specific points on the body to estimate body fat percentage.
4. Bioelectrical impedance analysis (BIA): This is a non-invasive method that uses electrical impulses to measure body fat percentage.
5. Dual-energy X-ray absorptiometry (DXA): This is a more accurate method of measuring body composition, including bone density and body fat percentage.
It's important to note that body weight can fluctuate throughout the day due to factors such as water retention, so it's best to measure body weight at the same time each day for the most accurate results. Additionally, it's important to use a reliable scale or measuring tool to ensure accurate measurements.
There are several types of colonic neoplasms, including:
1. Adenomas: These are benign growths that are usually precursors to colorectal cancer.
2. Carcinomas: These are malignant tumors that arise from the epithelial lining of the colon.
3. Sarcomas: These are rare malignant tumors that arise from the connective tissue of the colon.
4. Lymphomas: These are cancers of the immune system that can affect the colon.
Colonic neoplasms can cause a variety of symptoms, including bleeding, abdominal pain, and changes in bowel habits. They are often diagnosed through a combination of medical imaging tests (such as colonoscopy or CT scan) and biopsy. Treatment for colonic neoplasms depends on the type and stage of the tumor, and may include surgery, chemotherapy, and/or radiation therapy.
Overall, colonic neoplasms are a common condition that can have serious consequences if left untreated. It is important for individuals to be aware of their risk factors and to undergo regular screening for colon cancer to help detect and treat any abnormal growths or tumors in the colon.
Jaundice is typically diagnosed through physical examination and laboratory tests such as blood tests to measure bilirubin levels. Treatment depends on the underlying cause, but may include medications to reduce bilirubin production or increase its excretion, or surgery to remove blockages in the bile ducts.
Here are some of the synonyms for Jaundice:
1. Yellow fever
2. Yellow jaundice
3. Hepatitis
4. Gallstones
5. Cholestasis
6. Obstruction of the bile ducts
7. Biliary tract disease
8. Hemochromatosis
9. Sickle cell anemia
10. Crigler-Najjar syndrome
Here are some of the antonyms for Jaundice:
1. Pinkness
2. Normal skin color
3. Healthy liver function
4. Bilirubin levels within normal range
5. No signs of liver disease or obstruction of bile ducts.
Coenzyme A transferases
Transferase
GABA transferase
Peptidyl transferase
WecA transferase
KDO transferase
Cofactor transferase family
Formyl-CoA transferase
Carboxyl transferase domain
Pyridine nucleotide transferase
Arsenate-mycothiol transferase
Methyl halide transferase
Glutaconate CoA-transferase
Citrate CoA-transferase
Citramalate CoA-transferase
Acetate CoA-transferase
Propionate CoA-transferase
Xyloglucan:xyloglucosyl transferase
Oxalate CoA-transferase
Malonate CoA-transferase
Terminal deoxynucleotidyl transferase
Bacterial glutathione transferase
Desosaminyl transferase EryCIII
Lipoyl(octanoyl) transferase
Glutathione S-transferase
5-hydroxypentanoate CoA-transferase
Succinate-hydroxymethylglutarate CoA-transferase
Glutathione S-transferase A1
Phenol sulfur transferase deficiency
Protein O-GlcNAc transferase
Glucuronyl transferase: MedlinePlus Medical Encyclopedia
SCOP 1.71: Superfamily c.26.1: Nucleotidylyl transferase
Estudos estruturais e moleculares da enzima fosfopanteteinil transferase de Xanthomonas...
Leucyl/phenylalanyl-tRNA--protein transferase (Escherichia coli IAI39) | Protein Target - PubChem
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QM/MM study of the reaction mechanism of the carboxyl transferase domain of pyruvate carboxylase from Staphylococcus aureus. |...
ALT cancer cells are specifically sensitive to lysine acetyl transferase inhibition | Oncotarget
Gamma-glutamyl transferase (GGT) blood test
No Association between the I105V Polymorphism of the Glutathione S-Transferase P1 Gene (GSTP1) and Prostate Cancer Risk: A...
The role of apolipoprotein N-acyl transferase, Lnt, in the lipidation of factor H binding protein of Neisseria meningitidis...
Engineering orthogonal polypeptide GalNAc-Transferase and UDP-sugar pairs | Crick
Glucosyl Transferase Activity
What are the major types of transferases? | AAT Bioquest
TPMT (THIOPURINE METHYL TRANSFERASE) GENOTYPING - TrueMedix
SGPT (Alanine Amino Transferase/ALT) - Niramaya Diagnostics
TPMT (THIOPURINE METHYL TRANSFERASE) GENOTYPING* - primadiagnostics.com
BIOPRO H
2.5.1.18 Glutathione transferases | Enzymes | IUPHAR/BPS Guide to MALARIA PHARMACOLOGY
L-seryl-tRNA(Sec) selenium transferase. | Syntrophy Portal
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Gamma-glutamyl tr10
- Abnormalities in other LFTs analyzed (alkaline phosphatase, gamma-glutamyl transferase, and total bilirubin) were not associated with short-term mortality. (helsinki.fi)
- The gamma-glutamyl transferase (GGT) blood test measures the level of the enzyme GGT in the blood. (adam.com)
- One of the tests used by doctors to determine if an individual is drinking excessively is the Gamma-glutamyl Transferase (GGT) test. (brighthub.com)
- This is a blood test that measures the level of gamma-glutamyl transferase, a liver enzyme. (brighthub.com)
- The report offers comprehensive analysis of the global gamma glutamyl transferase testing market by thoroughly studying different aspects of the market including major segments, market statistics, market dynamics, regional market outlook, investment opportunities, and top players working towards the growth of the market. (researchdive.com)
- The report offers market size and forecast by keenly evaluating every segment of the global gamma glutamyl transferase testing market. (researchdive.com)
- The report divides the global gamma glutamyl transferase testing market into four main regions including Europe, North America, Asia-Pacific, and LAMEA. (researchdive.com)
- Furthermore, these regions are sub-divided to profile detailed panorama of the gamma glutamyl transferase testing market across major countries in specific regions. (researchdive.com)
- The report outlines the business overview including financial performance, latest strategic moves & developments, product portfolio, and SWOT analysis of the leading players of the gamma glutamyl transferase testing market. (researchdive.com)
- Alcohol (ethanol) consumption and cigarette smoking can increase gamma-glutamyl transferase (GGT) levels. (medscape.com)
Glutathione10
- Glutathione S-transferase variants and hypertension. (ox.ac.uk)
- OBJECTIVES: Glutathione S-transferases are involved in defences against oxidative stress. (ox.ac.uk)
- We have recently demonstrated reduced expression of glutathione S-transferase mu type 1 (Gstm1) in a rat model of hypertension. (ox.ac.uk)
- Functional significance of serine 13 in the active site of glutathione S-transferase F3 from Oryza sativa. (bvsalud.org)
- Plant glutathione S-transferase (GST, EC 2.5.1.18) is an enzyme that detoxifies various electrophilic compounds including herbicides and organic pollutants by catalyzing the formation of conjugates with reduced glutathione (GSH). (bvsalud.org)
- Description: A sandwich quantitative ELISA assay kit for detection of Human Glutathione S Transferase Alpha 4 (GSTa4) in samples from serum, plasma or other biological fluids. (wannabe-anthropologist.com)
- Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Mouse Glutathione S Transferase Alpha 4 (GSTa4) in samples from Serum, plasma, tissue homogenates, cell lysates, cell culture supernates and other biological fluids. (wannabe-anthropologist.com)
- The ligandin (non-substrate) binding site of human Pi class glutathione transferase is located in the electrophile binding site (H-site). (expasy.org)
- Glutathione S-transferase Isoenzymes and the DDTase Activity in Two DDT-resistant Strains of Aedes aegypti. (who.int)
- The glutathione S-transferases: influence of polymorphism on cancer susceptibility. (bvsalud.org)
Polymorphism1
- Psychological Distress in Fibromyalgia Patients: A Role for Catechol-O-Methyl-Transferase Val158Met Polymorphism. (bvsalud.org)
Enzymes1
- Transferases are enzymes transferring a group, for example, the methyl group or a glycosyl group, from one compound (generally regarded as donor) to another compound (generally regarded as acceptor). (bvsalud.org)
Enzyme1
- Glucuronyl transferase is a liver enzyme . (medlineplus.gov)
Enzimas2
- Entre as enzimas dessa via, destaca-se a fosfopanteteinil transferase (XaPPT, E.C. 2.7.8.7), uma enzima essencial para o desenvolvimento da X. albilineans . (usp.br)
- Las transferases son enzimas que transfieren un grupo, por ejemplo, el grupo metilo o un grupo glucosilo, de un compuesto (generalmente considerado como donador) hacia otro compuesto (generalmente considerado aceptor). (bvsalud.org)
Protein1
- Alteration of pulmonary xenobiotic pathways was determined by monitoring the protein levels and activities of P-450 isozymes (CYP1A1 and CYP2B1), glutathioneS-transferase (GST), and NADPH:quinone oxidoreductase (QR). (cdc.gov)
Gene1
- In a mutant with markedly reduced binding, the transposon was located in the lnt gene which encodes apolipoprotein N-acyl transferase, Lnt, responsible for the addition of the third fatty acid to apolipoproteins prior to their sorting to the outer membrane. (nottingham.ac.uk)
Activity1
- AA treatment recapitulates the effect of PCAF knockdown on several ALT features, suggesting that AA decreased the ALT mechanism through the inhibition of lysine transferase activity of PCAF, but not that of GCN5. (oncotarget.com)
Types2
- What are the major types of transferases? (aatbio.com)
- There are 10 major types of transferases . (aatbio.com)
Liver1
- Glucuronyl transferase is a liver enzyme . (medlineplus.gov)