A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)
Tumors or cancer of the ADRENAL GLANDS.
Product of epinephrine O-methylation. It is a commonly occurring, pharmacologically and physiologically inactive metabolite of epinephrine.
A CELL LINE derived from a PHEOCHROMOCYTOMA of the rat ADRENAL MEDULLA. PC12 cells stop dividing and undergo terminal differentiation when treated with NERVE GROWTH FACTOR, making the line a useful model system for NERVE CELL differentiation.
A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)
A guanidine analog with specific affinity for tissues of the sympathetic nervous system and related tumors. The radiolabeled forms are used as antineoplastic agents and radioactive imaging agents. (Merck Index, 12th ed) MIBG serves as a neuron-blocking agent which has a strong affinity for, and retention in, the adrenal medulla and also inhibits ADP-ribosyltransferase.
A methylated metabolite of norepinephrine that is excreted in the urine and found in certain tissues. It is a marker for tumors.
A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.
A general class of ortho-dihydroxyphenylalkylamines derived from tyrosine.
A relatively rare, usually benign neoplasm originating in the chemoreceptor tissue of the CAROTID BODY; GLOMUS JUGULARE; GLOMUS TYMPANICUM; AORTIC BODIES; and the female genital tract. It consists histologically of rounded or ovoid hyperchromatic cells that tend to be grouped in an alveolus-like pattern within a scant to moderate amount of fibrous stroma and a few large thin-walled vascular channels. (From Stedman, 27th ed)
Excision of one or both adrenal glands. (From Dorland, 28th ed)
An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.
'Iodobenzenes' are aromatic organic compounds consisting of a benzene ring substituted with an iodine atom (I), typically represented by the chemical formula C6H5I.
Vanilmandelic acid (VMA) is a major metabolite of catecholamines, specifically normetanephrine and metanephrine, which are produced by the adrenal gland and can be measured in urine to help diagnose pheochromocytoma or neuroblastoma.
Factors which enhance the growth potentialities of sensory and sympathetic nerve cells.
A flavoprotein containing oxidoreductase that catalyzes the dehydrogenation of SUCCINATE to fumarate. In most eukaryotic organisms this enzyme is a component of mitochondrial electron transport complex II.
A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.
A type of chromogranin which was first isolated from CHROMAFFIN CELLS of the ADRENAL MEDULLA but is also found in other tissues and in many species including human, bovine, rat, mouse, and others. It is an acidic protein with 431 to 445 amino acid residues. It contains fragments that inhibit vasoconstriction or release of hormones and neurotransmitter, while other fragments exert antimicrobial actions.
A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p966)
A group of acidic proteins that are major components of SECRETORY GRANULES in the endocrine and neuroendocrine cells. They play important roles in the aggregation, packaging, sorting, and processing of secretory protein prior to secretion. They are cleaved to release biologically active peptides. There are various types of granins, usually classified by their sources.
In tissue culture, hairlike projections of neurons stimulated by growth factors and other molecules. These projections may go on to form a branched tree of dendrites or a single axon or they may be reabsorbed at a later stage of development. "Neurite" may refer to any filamentous or pointed outgrowth of an embryonal or tissue-culture neural cell.
Receptor protein-tyrosine kinases involved in the signaling of GLIAL CELL-LINE DERIVED NEUROTROPHIC FACTOR ligands. They contain an extracellular cadherin domain and form a receptor complexes with GDNF RECEPTORS. Mutations in ret protein are responsible for HIRSCHSPRUNG DISEASE and MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.
NERVE GROWTH FACTOR is the first of a series of neurotrophic factors that were found to influence the growth and differentiation of sympathetic and sensory neurons. It is comprised of alpha, beta, and gamma subunits. The beta subunit is responsible for its growth stimulating activity.
A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)
The inner portion of the adrenal gland. Derived from ECTODERM, adrenal medulla consists mainly of CHROMAFFIN CELLS that produces and stores a number of NEUROTRANSMITTERS, mainly adrenaline (EPINEPHRINE) and NOREPINEPHRINE. The activity of the adrenal medulla is regulated by the SYMPATHETIC NERVOUS SYSTEM.
Abdominal neoplasms refer to abnormal growths or tumors occurring within the abdominal cavity, which can be benign or malignant, and affect various organs such as the pancreas, liver, kidneys, or intestines.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Unstable isotopes of iodine that decay or disintegrate emitting radiation. I atoms with atomic weights 117-139, except I 127, are radioactive iodine isotopes.
The co-occurrence of pregnancy and NEOPLASMS. The neoplastic disease may precede or follow FERTILIZATION.
A ubiquitin-protein ligase that mediates OXYGEN-dependent polyubiquitination of HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT. It is inactivated in VON HIPPEL-LINDAU SYNDROME.
Precursor of epinephrine that is secreted by the adrenal medulla and is a widespread central and autonomic neurotransmitter. Norepinephrine is the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus. It is also found in plants and is used pharmacologically as a sympathomimetic.
Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
A pair of glands located at the cranial pole of each of the two KIDNEYS. Each adrenal gland is composed of two distinct endocrine tissues with separate embryonic origins, the ADRENAL CORTEX producing STEROIDS and the ADRENAL MEDULLA producing NEUROTRANSMITTERS.
An enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin, and oxygen to 3,4-dihydroxy-L-phenylalanine, dihydrobiopterin, and water. EC 1.14.16.2.
The active sympathomimetic hormone from the ADRENAL MEDULLA. It stimulates both the alpha- and beta- adrenergic systems, causes systemic VASOCONSTRICTION and gastrointestinal relaxation, stimulates the HEART, and dilates BRONCHI and cerebral vessels. It is used in ASTHMA and CARDIAC FAILURE and to delay absorption of local ANESTHETICS.
Simple amine found in the brain. It may be modulator of sympathetic functions. Its derivatives are adrenergic agonists and antagonists. It is also used in chemical industry.
A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)
A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites.
A beta-hydroxylated derivative of phenylalanine. The D-form of dihydroxyphenylalanine has less physiologic activity than the L-form and is commonly used experimentally to determine whether the pharmacological effects of LEVODOPA are stereospecific.
Tumors or cancer of the THYROID GLAND.
Pathological processes of the ADRENAL GLANDS.
Unanticipated information discovered in the course of testing or medical care. Used in discussions of information that may have social or psychological consequences, such as when it is learned that a child's biological father is someone other than the putative father, or that a person tested for one disease or disorder has, or is at risk for, something else.
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
One of the catecholamine NEUROTRANSMITTERS in the brain. It is derived from TYROSINE and is the precursor to NOREPINEPHRINE and EPINEPHRINE. Dopamine is a major transmitter in the extrapyramidal system of the brain, and important in regulating movement. A family of receptors (RECEPTORS, DOPAMINE) mediate its action.
Dopamine beta-Hydroxylase is an enzyme that catalyzes the conversion of dopamine to norepinephrine, a crucial step in the synthesis of catecholamines within the adrenal glands and central nervous system.
Compounds that are used in medicine as sources of radiation for radiotherapy and for diagnostic purposes. They have numerous uses in research and industry. (Martindale, The Extra Pharmacopoeia, 30th ed, p1161)
Neoplasms composed of more than one type of neoplastic tissue.

Anti-apoptotic role of telomerase in pheochromocytoma cells. (1/1456)

Telomerase is a protein-RNA enzyme complex that adds a six-base DNA sequence (TTAGGG) to the ends of chromosomes and thereby prevents their shortening. Reduced telomerase activity is associated with cell differentiation and accelerated cellular senescence, whereas increased telomerase activity is associated with cell transformation and immortalization. Because many types of cancer have been associated with reduced apoptosis, whereas cell differentiation and senescence have been associated with increased apoptosis, we tested the hypothesis that telomerase activity is mechanistically involved in the regulation of apoptosis. Levels of telomerase activity in cultured pheochromocytoma cells decreased prior to cell death in cells undergoing apoptosis. Treatment of cells with the oligodeoxynucleotide TTAGGG or with 3,3'-diethyloxadicarbocyanine, agents that inhibit telomerase activity in a concentration-dependent manner, significantly enhanced mitochondrial dysfunction and apoptosis induced by staurosporine, Fe2+ (an oxidative insult), and amyloid beta-peptide (a cytotoxic peptide linked to neuronal apoptosis in Alzheimer's disease). Overexpression of Bcl-2 and the caspase inhibitor zVAD-fmk protected cells against apoptosis in the presence of telomerase inhibitors, suggesting a site of action of telomerase prior to caspase activation and mitochondrial dysfunction. Telomerase activity decreased in cells during the process of nerve growth factor-induced differentiation, and such differentiated cells exhibited increased sensitivity to apoptosis. Our data establish a role for telomerase in suppressing apoptotic signaling cascades and suggest a mechanism whereby telomerase may suppress cellular senescence and promote tumor formation.  (+info)

Library of sequence-specific radioimmunoassays for human chromogranin A. (2/1456)

BACKGROUND: Human chromogranin A (CgA) is an acidic protein widely expressed in neuroendocrine tissue and tumors. The extensive tissue- and tumor-specific cleavages of CgA at basic cleavage sites produce multiple peptides. METHODS: We have developed a library of RIAs specific for different epitopes, including the NH2 and COOH termini and three sequences adjacent to dibasic sites in the remaining part of CgA. RESULTS: The antisera raised against CgA(210-222) and CgA(340-348) required a free NH2 terminus for binding. All antisera displayed high titers, high indexes of heterogeneity ( approximately 1.0), and high binding affinities (Keff0 approximately 0.1 x 10(12) to 1.0 x 10(12) L/mol), implying that the RIAs were monospecific and sensitive. The concentration of CgA in different tissues varied with the assay used. Hence, in a carcinoid tumor the concentration varied from 0.5 to 34.0 nmol/g tissue depending on the specificity of the CgA assay. The lowest concentration in all tumors was measured with the assay specific for the NH2 terminus of CgA. This is consistent with the relatively low concentrations measured in plasma from carcinoid tumor patients by the N-terminal assay, whereas the assays using antisera raised against CgA(210-222) and CgA(340-348) measured increased concentrations. CONCLUSION: Only some CgA assays appear useful for diagnosis of neuroendocrine tumors, but the entire library is valuable for studies of the expression and processing of human CgA.  (+info)

Protein interactions with the glucose transporter binding protein GLUT1CBP that provide a link between GLUT1 and the cytoskeleton. (3/1456)

Subcellular targeting and the activity of facilitative glucose transporters are likely to be regulated by interactions with cellular proteins. This report describes the identification and characterization of a protein, GLUT1 C-terminal binding protein (GLUT1CBP), that binds via a PDZ domain to the C terminus of GLUT1. The interaction requires the C-terminal four amino acids of GLUT1 and is isoform specific because GLUT1CBP does not interact with the C terminus of GLUT3 or GLUT4. Most rat tissues examined contain both GLUT1CBP and GLUT1 mRNA, whereas only small intestine lacked detectable GLUT1CBP protein. GLUT1CBP is also expressed in primary cultures of neurons and astrocytes, as well as in Chinese hamster ovary, 3T3-L1, Madin-Darby canine kidney, Caco-2, and pheochromocytoma-12 cell lines. GLUT1CBP is able to bind to native GLUT1 extracted from cell membranes, self-associate, or interact with the cytoskeletal proteins myosin VI, alpha-actinin-1, and the kinesin superfamily protein KIF-1B. The presence of a PDZ domain places GLUT1CBP among a growing family of structural and regulatory proteins, many of which are localized to areas of membrane specialization. This and its ability to interact with GLUT1 and cytoskeletal proteins implicate GLUT1CBP in cellular mechanisms for targeting GLUT1 to specific subcellular sites either by tethering the transporter to cytoskeletal motor proteins or by anchoring the transporter to the actin cytoskeleton.  (+info)

Multiple endocrine neoplasia type 2A with the identical somatic mutation in medullary thyroid carcinoma and pheochromocytoma without germline mutation at the corresponding site in the RET proto-oncogene. (4/1456)

A germline mutation either in exon 10 or 11 of the RET proto-oncogene is found in the majority of patients with multiple endocrine neoplasia type 2A (MEN 2A). A 41-year-old female patient was referred for further evaluation of incidentally discovered right adrenal tumor. She had bilateral adrenal pheochromocytomas and medullary thyroid carcinomas detected by endocrinological and radiological examination, and diagnosed as MEN 2A. Molecular genetic testing of the RET exons 10 and 11 exhibited the identical somatic missense mutation at codon 634 in both tumors but did not confirm germline mutations in the corresponding sites. Possible mechanisms for tumorigenesis in this patient are discussed.  (+info)

Metastasis-association of the rat ortholog of the human epithelial glycoprotein antigen EGP314. (5/1456)

Screening for surface molecules expressed by metastasizing rat tumors had revealed evidence for metastasis-association of a molecule also expressed on epithelial cells. The similarity to the expression profile of the panepithelial glycoprotein EGP314 prompted us to isolate and sequence the gene and to explore functional features of the molecule in transfected tumor lines. The molecule D5.7A, named according to the antibody, D5.7, used for selection, indeed, is the ortholog of EGP314 with 92% and 80% identity to the murine and the human molecules. Like EGP314, D5.7A has a particular cleavage site, a small cleavage product being resolved under reducing conditions from the membrane anchored part of the molecule. Transfection of a low metastasizing fibrosarcoma, pheochromoblastoma and adenocarcinoma revealed that expression of D5.7A facilitates tumor progression. Depending on the origin of the tumor, D5.7A transfectants either metastasized via the lymphatic system (pheochromoblastoma, adenocarcinoma) or hematogeneously (fibrosarcoma). Particularly after proteolytic cleavage, D5.7A facilitated cell - cell adhesion and provided a proliferative signal upon crosslinking. Thus, the rat ortholog of EGP314 is involved in metastasis formation. Importantly, its functional activities apparently rely on proteolytic cleavage. These findings provide a first evidence on how a panepithelial marker can be involved in tumor progression.  (+info)

Mercury intoxication presenting with hypertension and tachycardia. (6/1456)

An 11 year old girl presented with hypertension and tachycardia. Excess urinary catecholamine excretion suggested phaeochromocytoma but imaging studies failed to demonstrate a tumour. Other symptoms included insomnia and weight loss, and she was found to have a raised concentration of mercury in blood and urine. Mercury intoxication should be considered in the differential diagnosis of hypertension with tachycardia even in patients presenting without the skin lesions typical of mercury intoxication and without a history of exposure.  (+info)

Influences of long-term administration of 24R, 25-dihydroxyvitamin D3, a vitamin D3 derivative, in rats. (7/1456)

In order to examine the influences by long-term feeding of 24R, 25 dihydroxyvitamin D3[24R, 25(OH)2D3], an active form of vitamin D, Wistar rats (14-week-old, male, 20 rats/group) were fed a powder diet containing 0 or 5 ppm 24R, 25(OH)2D3 for 57 weeks. Final body weights and total food consumption were comparable between the groups. Urinary calcium levels were significantly (p < 0.05 or 0.01) increased by the administration of 24R, 25(OH)2D3 at weeks 3, 22 and 56, although the levels of serum calcium did not differ between the groups at the termination of week 57. In the 24R, 25(OH)2D3 group, weights of the adrenals and femurs were significantly (p < 0.01) increased. Histopathologically, this was found due to thickening of cortical bone in the femurs, and medullary hyperplasia and pheochromocytoma of the adrenals. Immunohistochemically, proliferating cell nuclear antigen (PCNA)-labeling indices for intact adrenal medulla, medullary hyperplasia and pheochromocytoma in the 24R, 25(OH)2D3 group were respectively 1.82 +/- 1.21, 5.88 +/- 4.13 and 16, all higher than that for the adrenal medulla in the control group (0.87 +/- 0.67). These results indicate that 24R, 25(OH)2D3 at a dose with which serum calcium is not chronically increased causes thickening of the cortex of the femur, and development of adrenal proliferative lesions, suggesting that rats may be too sensitive for results to be relevant to human risk assessment.  (+info)

Malignant pheochromocytoma with multiple hepatic metastases treated by chemotherapy and transcatheter arterial embolization. (8/1456)

A 62-year-old Japanese male developed multiple hepatic metastases two years after resection of pheochromocytoma of the right adrenal gland. Transcatheter arterial embolization (TAE) was performed for the purpose of the treatment of hepatic metastases resistant to 27 cycles of combined chemotherapy consisting of cyclophosphamide, vincristine, and dacarbazine. After TAE, the hepatic metastatic lesions decreased in size and hypertension passed its crisis. The present case suggests the utility of TAE for multiple hepatic metastases under careful blood pressure monitoring.  (+info)

Pheochromocytoma is a rare type of tumor that develops in the adrenal glands, which are triangular-shaped glands located on top of each kidney. These tumors produce excessive amounts of hormones called catecholamines, including adrenaline and noradrenaline. This can lead to a variety of symptoms such as high blood pressure, sweating, headaches, rapid heartbeat, and anxiety.

Pheochromocytomas are typically slow-growing and can be benign or malignant (cancerous). While the exact cause of these tumors is not always known, some genetic factors have been identified that may increase a person's risk. Treatment usually involves surgical removal of the tumor, along with medications to manage symptoms and control blood pressure before and after surgery.

Adrenal gland neoplasms refer to abnormal growths or tumors in the adrenal glands. These glands are located on top of each kidney and are responsible for producing hormones that regulate various bodily functions such as metabolism, blood pressure, and stress response. Adrenal gland neoplasms can be benign (non-cancerous) or malignant (cancerous).

Benign adrenal tumors are called adenomas and are usually small and asymptomatic. However, some adenomas may produce excessive amounts of hormones, leading to symptoms such as high blood pressure, weight gain, and mood changes.

Malignant adrenal tumors are called adrenocortical carcinomas and are rare but aggressive cancers that can spread to other parts of the body. Symptoms of adrenocortical carcinoma may include abdominal pain, weight loss, and hormonal imbalances.

It is important to diagnose and treat adrenal gland neoplasms early to prevent complications and improve outcomes. Diagnostic tests may include imaging studies such as CT scans or MRIs, as well as hormone level testing and biopsy. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.

Metanephrine is a catecholamine metabolite, specifically a derivative of epinephrine (adrenaline). It is formed in the body through the metabolic breakdown of epinephrine by the enzyme catechol-O-methyltransferase (COMT). Metanephrines, including metanephrine and normetanephrine, are primarily produced in the adrenal glands but can also be found in other tissues in smaller amounts.

Elevated levels of metanephrines in the blood or urine may indicate a pheochromocytoma, a rare tumor originating from the chromaffin cells of the adrenal medulla, or a paraganglioma, a similar type of tumor located outside the adrenal glands. These tumors can cause excessive production of catecholamines, including epinephrine and norepinephrine, leading to increased metanephrine levels.

It is essential to differentiate between metanephrine and normetanephrine as they have distinct clinical implications. Normetanephrine is a derivative of norepinephrine (noradrenaline), while metanephrine originates from epinephrine. The measurement of both free metanephrines and normetanephrines in plasma or urine is often used to diagnose and monitor pheochromocytomas and paragangliomas.

PC12 cells are a type of rat pheochromocytoma cell line, which are commonly used in scientific research. Pheochromocytomas are tumors that develop from the chromaffin cells of the adrenal gland, and PC12 cells are a subtype of these cells.

PC12 cells have several characteristics that make them useful for research purposes. They can be grown in culture and can be differentiated into a neuron-like phenotype when treated with nerve growth factor (NGF). This makes them a popular choice for studies involving neuroscience, neurotoxicity, and neurodegenerative disorders.

PC12 cells are also known to express various neurotransmitter receptors, ion channels, and other proteins that are relevant to neuronal function, making them useful for studying the mechanisms of drug action and toxicity. Additionally, PC12 cells can be used to study the regulation of cell growth and differentiation, as well as the molecular basis of cancer.

Paraganglioma is a rare type of tumor that develops in the nervous system, specifically in the paraganglia. Paraganglia are clusters of specialized nerve cells throughout the body that release hormones in response to stress or physical activity. Most paragangliomas are benign (noncancerous), but some can be malignant (cancerous) and may spread to other parts of the body.

Paragangliomas can occur in various locations, including the head and neck region (called "head and neck paragangliomas") or near the spine, abdomen, or chest (called "extra-adrenal paragangliomas"). When they develop in the adrenal glands, which are located on top of each kidney, they are called pheochromocytomas.

Paragangliomas can produce and release hormones such as epinephrine (adrenaline) and norepinephrine, leading to symptoms like high blood pressure, rapid heart rate, sweating, anxiety, and headaches. Treatment typically involves surgical removal of the tumor, along with medications to manage symptoms and control hormone levels before and after surgery.

3-Iodobenzylguanidine (3-IBG) is a radioactive tracer drug that is used in nuclear medicine to help diagnose and evaluate pheochromocytomas and paragangliomas, which are rare tumors of the adrenal glands or nearby nerve tissue. It works by accumulating in the cells of these tumors, allowing them to be detected through imaging techniques such as single-photon emission computed tomography (SPECT) scans.

The drug contains a radioactive isotope of iodine (I-123 or I-131) that emits gamma rays, which can be detected by a gamma camera during the imaging procedure. The 3-IBG molecule also includes a guanidine group, which selectively binds to the norepinephrine transporter (NET) on the surface of the tumor cells, allowing the drug to accumulate within the tumor tissue.

It is important to note that the use of 3-IBG should be under the supervision of a qualified healthcare professional, as it involves exposure to radiation and may have potential side effects.

Normetanephrine is defined as a major metabolite of epinephrine (adrenaline), which is formed by the action of catechol-O-methyltransferase (COMT) on metanephrine. It is primarily produced in the adrenal gland and is also found in the sympathetic nervous system. Normetanephrine is often measured in clinical testing to help diagnose pheochromocytoma, a rare tumor of the adrenal glands that can cause high blood pressure and other symptoms due to excessive production of catecholamines. Increased levels of normetanephrine in the urine or plasma may indicate the presence of a pheochromocytoma or other conditions associated with increased catecholamine release.

Multiple Endocrine Neoplasia Type 2a (MEN 2A) is a rare genetic disorder characterized by the development of tumors in various endocrine glands. It is caused by a mutation in the RET gene. The condition typically involves the following three endocrine glands:

1. Medullary Thyroid Carcinoma (MTC): Almost all patients with MEN 2A develop this type of thyroid cancer, which arises from the parafollicular cells (also known as C cells) of the thyroid gland.

2. Pheochromocytomas: These are tumors that develop in the adrenal glands, usually in the chromaffin cells. They can cause the release of excessive amounts of catecholamines, leading to hypertension and other symptoms. Approximately 50% of MEN 2A patients will develop pheochromocytomas.

3. Primary Parathyroid Hyperplasia or Adenomas: Overactivity of the parathyroid glands can lead to hyperparathyroidism, which results in increased calcium levels in the blood (hypercalcemia). This occurs in about 20% of MEN 2A patients.

MEN 2A is an autosomal dominant disorder, meaning that if one parent has the condition, there is a 50% chance their offspring will inherit the mutated gene and develop the disease. Early detection and treatment of the associated tumors can significantly improve patient outcomes.

Catecholamines are a group of hormones and neurotransmitters that are derived from the amino acid tyrosine. The most well-known catecholamines are dopamine, norepinephrine (also known as noradrenaline), and epinephrine (also known as adrenaline). These hormones are produced by the adrenal glands and are released into the bloodstream in response to stress. They play important roles in the "fight or flight" response, increasing heart rate, blood pressure, and alertness. In addition to their role as hormones, catecholamines also function as neurotransmitters, transmitting signals in the nervous system. Disorders of catecholamine regulation can lead to a variety of medical conditions, including hypertension, mood disorders, and neurological disorders.

Paraganglioma, extra-adrenal, is a type of rare tumor that develops in the nervous system's paraganglia, which are groups of specialized cells that are responsible for regulating blood pressure and other bodily functions. Unlike adrenal paragangliomas, which form in the adrenal glands located on top of the kidneys, extra-adrenal paragangliomas develop outside of the adrenal glands, in various locations along the sympathetic and parasympathetic nervous systems. These tumors can be functional or nonfunctional, meaning they may or may not produce hormones such as catecholamines (epinephrine, norepinephrine, and dopamine). Functional extra-adrenal paragangliomas can cause symptoms related to excessive hormone production, including hypertension, sweating, headaches, and rapid heartbeat. Treatment typically involves surgical removal of the tumor, along with preoperative preparation to manage potential hormonal imbalances.

Adrenalectomy is a surgical procedure in which one or both adrenal glands are removed. The adrenal glands are small, triangular-shaped glands located on top of each kidney that produce hormones such as cortisol, aldosterone, and adrenaline (epinephrine).

There are several reasons why an adrenalectomy may be necessary. For example, the procedure may be performed to treat tumors or growths on the adrenal glands, such as pheochromocytomas, which can cause high blood pressure and other symptoms. Adrenalectomy may also be recommended for patients with Cushing's syndrome, a condition in which the body is exposed to too much cortisol, or for those with adrenal cancer.

During an adrenalectomy, the surgeon makes an incision in the abdomen or back and removes the affected gland or glands. In some cases, laparoscopic surgery may be used, which involves making several small incisions and using specialized instruments to remove the gland. After the procedure, patients may need to take hormone replacement therapy to compensate for the loss of adrenal gland function.

Von Hippel-Lindau (VHL) disease is a rare genetic disorder characterized by the development of tumors and cysts in various parts of the body. It is caused by mutations in the VHL gene, which leads to the abnormal growth of blood vessels, resulting in the formation of these tumors.

The tumors associated with VHL disease can develop in several organs, including the eyes (in the form of retinal hemangioblastomas), the brain and spinal cord (in the form of cerebellar hemangioblastomas and spinal cord hemangioblastomas), the adrenal glands (in the form of pheochromocytomas or paragangliomas), the kidneys (in the form of clear cell renal cell carcinomas), and the pancreas (in the form of serous cystadenomas or neuroendocrine tumors).

Individuals with VHL disease are at risk for developing multiple tumors over their lifetime, and the severity of the disease can vary widely from person to person. The diagnosis of VHL disease is typically made through genetic testing, family history, and imaging studies to detect the presence of tumors. Treatment may involve surgical removal of the tumors, radiation therapy, or other interventions depending on the location and size of the tumors. Regular monitoring and follow-up are essential for individuals with VHL disease to manage their condition effectively.

Iodobenzenes are organic compounds that contain a iodine atom (I) attached to a benzene ring. The general formula for iodobenzenes is C6H5I. They can be considered as aryl halides and can undergo various chemical reactions such as nucleophilic substitution, electrophilic aromatic substitution, and reduction. Iodobenzenes are less reactive than other aryl halides due to the larger size and lower electronegativity of iodine compared to other halogens. They are used in organic synthesis as building blocks or reagents for various chemical transformations.

Vanilmandelic acid (VMA) is a metabolite produced in the body as a result of the breakdown of catecholamines, which are hormones such as dopamine, norepinephrine, and epinephrine. Specifically, VMA is the major end product of epinephrine and norepinephrine metabolism.

In clinical medicine, measurement of VMA in urine is often used as a diagnostic test for pheochromocytoma, a rare tumor that arises from the chromaffin cells of the adrenal gland and can cause excessive production of catecholamines. Elevated levels of VMA in the urine may indicate the presence of a pheochromocytoma or other conditions associated with increased catecholamine secretion, such as neuroblastoma or ganglioneuroma.

It's important to note that while VMA is a useful diagnostic marker for pheochromocytoma and related conditions, it is not specific to these disorders and can be elevated in other medical conditions as well. Therefore, the test should be interpreted in conjunction with other clinical findings and diagnostic tests.

Nerve Growth Factors (NGFs) are a family of proteins that play an essential role in the growth, maintenance, and survival of certain neurons (nerve cells). They were first discovered by Rita Levi-Montalcini and Stanley Cohen in 1956. NGF is particularly crucial for the development and function of the peripheral nervous system, which connects the central nervous system to various organs and tissues throughout the body.

NGF supports the differentiation and survival of sympathetic and sensory neurons during embryonic development. In adults, NGF continues to regulate the maintenance and repair of these neurons, contributing to neuroplasticity – the brain's ability to adapt and change over time. Additionally, NGF has been implicated in pain transmission and modulation, as well as inflammatory responses.

Abnormal levels or dysfunctional NGF signaling have been associated with various medical conditions, including neurodegenerative diseases (e.g., Alzheimer's and Parkinson's), chronic pain disorders, and certain cancers (e.g., small cell lung cancer). Therefore, understanding the role of NGF in physiological and pathological processes may provide valuable insights into developing novel therapeutic strategies for these conditions.

Succinate dehydrogenase (SDH) is an enzyme complex that plays a crucial role in the process of cellular respiration, specifically in the citric acid cycle (also known as the Krebs cycle) and the electron transport chain. It is located in the inner mitochondrial membrane of eukaryotic cells.

SDH catalyzes the oxidation of succinate to fumarate, converting it into a molecule of fadaquate in the process. During this reaction, two electrons are transferred from succinate to the FAD cofactor within the SDH enzyme complex, reducing it to FADH2. These electrons are then passed on to ubiquinone (CoQ), which is a mobile electron carrier in the electron transport chain, leading to the generation of ATP, the main energy currency of the cell.

SDH is also known as mitochondrial complex II because it is the second complex in the electron transport chain. Mutations in the genes encoding SDH subunits or associated proteins have been linked to various human diseases, including hereditary paragangliomas, pheochromocytomas, gastrointestinal stromal tumors (GISTs), and some forms of neurodegenerative disorders.

Multiple Endocrine Neoplasia (MEN) is a group of inherited disorders characterized by the development of tumors in various endocrine glands, which can lead to overproduction of hormones. There are two main types: MEN type 1 and MEN type 2.

MEN type 1, also known as Wermer's syndrome, is caused by mutations in the MEN1 gene. It typically involves tumors in the parathyroid glands (leading to hyperparathyroidism), pancreas (often gastrinomas or insulinomas), and pituitary gland. Some individuals may also develop tumors in other organs, such as the adrenal glands, lungs, or thyroid gland.

MEN type 2, which includes MEN type 2A and MEN type 2B, is caused by mutations in the RET gene. MEN type 2A involves medullary thyroid carcinoma (MTC), pheochromocytomas (tumors of the adrenal glands), and parathyroid tumors. MEN type 2B includes MTC, pheochromocytomas, neuromas (nerve tissue tumors), and distinctive physical features such as a marfanoid habitus and mucosal neuromas.

Early detection and management of these tumors are crucial to prevent complications from hormone excess or tumor invasion. Regular screening and monitoring are recommended for individuals with MEN, even if they do not have symptoms. Treatment typically involves surgical removal of the affected glands or tumors, along with medications to manage hormonal imbalances.

Chromogranin A is a protein that is widely used as a marker for neuroendocrine tumors. These are tumors that arise from cells of the neuroendocrine system, which is a network of cells throughout the body that produce hormones and help to regulate various bodily functions. Chromogranin A is stored in secretory granules within these cells and is released into the bloodstream when the cells are stimulated to release their hormones.

Chromogranin A is measured in the blood as a way to help diagnose neuroendocrine tumors, monitor the effectiveness of treatment, and track the progression of the disease. Elevated levels of chromogranin A in the blood may indicate the presence of a neuroendocrine tumor, although other factors can also cause an increase in this protein.

It's important to note that while chromogranin A is a useful marker for neuroendocrine tumors, it is not specific to any one type of tumor and should be used in conjunction with other diagnostic tests and clinical evaluation.

A ganglioneuroma is a type of benign (noncancerous) tumor that arises from the nerve cells called ganglia in the autonomic nervous system. These tumors typically develop in the abdomen or chest and are most commonly found in children and adolescents, although they can occur at any age.

Ganglioneuromas are composed of mature nerve cells (ganglion cells) and supporting tissue called stroma. They tend to grow slowly and usually do not cause any symptoms unless they become very large or press on nearby organs. In some cases, ganglioneuromas may produce hormones that can cause symptoms such as diarrhea, flushing, or heart palpitations.

While ganglioneuromas are generally benign, there is a small risk that they may become malignant (cancerous) and develop into a type of tumor called a ganglioneuroblastoma or neuroblastoma. For this reason, it is important to monitor these tumors closely and remove them if they grow too large or cause symptoms.

Treatment for ganglioneuromas typically involves surgical removal of the tumor. In some cases, radiation therapy or chemotherapy may also be recommended, particularly if there is a risk of malignant transformation.

Chromogranins are a group of proteins that are stored in the secretory vesicles of neuroendocrine cells, including neurons and endocrine cells. These proteins are co-released with neurotransmitters and hormones upon stimulation of the cells. Chromogranin A is the most abundant and best studied member of this protein family.

Chromogranins have several functions in the body. They play a role in the biogenesis, processing, and storage of neuropeptides and neurotransmitters within secretory vesicles. Additionally, chromogranins can be cleaved into smaller peptides, some of which have hormonal or regulatory activities. For example, vasostatin-1, a peptide derived from chromogranin A, has been shown to have vasodilatory and cardioprotective effects.

Measurement of chromogranin levels in blood can be used as a biomarker for the diagnosis and monitoring of neuroendocrine tumors, which are characterized by excessive secretion of chromogranins and other neuroendocrine markers.

Neurites are extensions of a neuron (a type of cell in the nervous system) that can be either an axon or a dendrite. An axon is a thin, cable-like extension that carries signals away from the cell body, while a dendrite is a branching extension that receives signals from other neurons. Neurites play a crucial role in the communication between neurons and the formation of neural networks. They are involved in the transmission of electrical and chemical signals, as well as in the growth and development of the nervous system.

Proto-oncogene proteins c-RET are a group of gene products that play crucial roles in the development and functioning of the nervous system, as well as in other tissues. The c-RET proto-oncogene encodes a receptor tyrosine kinase, which is a type of enzyme that helps transmit signals from the outside to the inside of cells. This receptor is activated by binding to its ligands, leading to the activation of various signaling pathways that regulate cell growth, differentiation, and survival.

Mutations in the c-RET proto-oncogene can lead to its overactivation, resulting in the conversion of this gene into an oncogene. Oncogenes are genes that have the potential to cause cancer when they are mutated or abnormally expressed. Activating mutations in c-RET have been implicated in several types of human cancers, including multiple endocrine neoplasia type 2 (MEN2), papillary thyroid carcinoma, and certain types of lung and kidney cancers. These mutations can lead to the constitutive activation of c-RET, resulting in uncontrolled cell growth and tumor formation.

Nerve Growth Factor (NGF) is a small secreted protein that is involved in the growth, maintenance, and survival of certain neurons (nerve cells). It was the first neurotrophin to be discovered and is essential for the development and function of the nervous system. NGF binds to specific receptors on the surface of nerve cells and helps to promote their differentiation, axonal growth, and synaptic plasticity. Additionally, NGF has been implicated in various physiological processes such as inflammation, immune response, and wound healing. Deficiencies or excesses of NGF have been linked to several neurological disorders, including Alzheimer's disease, Parkinson's disease, and pain conditions.

Medullary carcinoma is a type of cancer that develops in the neuroendocrine cells of the thyroid gland. These cells produce hormones that help regulate various bodily functions. Medullary carcinoma is a relatively rare form of thyroid cancer, accounting for about 5-10% of all cases.

Medullary carcinoma is characterized by the presence of certain genetic mutations that cause the overproduction of calcitonin, a hormone produced by the neuroendocrine cells. This overproduction can lead to the formation of tumors in the thyroid gland.

Medullary carcinoma can be hereditary or sporadic. Hereditary forms of the disease are caused by mutations in the RET gene and are often associated with multiple endocrine neoplasia type 2 (MEN 2), a genetic disorder that affects the thyroid gland, adrenal glands, and parathyroid glands. Sporadic forms of medullary carcinoma, on the other hand, are not inherited and occur randomly in people with no family history of the disease.

Medullary carcinoma is typically more aggressive than other types of thyroid cancer and tends to spread (metastasize) to other parts of the body, such as the lymph nodes, lungs, and liver. Symptoms may include a lump or nodule in the neck, difficulty swallowing, hoarseness, and coughing. Treatment options may include surgery, radiation therapy, and chemotherapy. Regular monitoring of calcitonin levels is also recommended to monitor the effectiveness of treatment and detect any recurrence of the disease.

The adrenal medulla is the inner part of the adrenal gland, which is located on top of the kidneys. It is responsible for producing and releasing hormones such as epinephrine (also known as adrenaline) and norepinephrine (also known as noradrenaline). These hormones play a crucial role in the body's "fight or flight" response, preparing the body for immediate action in response to stress.

Epinephrine increases heart rate, blood pressure, and respiratory rate, while also increasing blood flow to muscles and decreasing blood flow to the skin and digestive system. Norepinephrine has similar effects but is generally less potent than epinephrine. Together, these hormones help to prepare the body for physical activity and increase alertness and focus.

Disorders of the adrenal medulla can lead to a variety of symptoms, including high blood pressure, rapid heart rate, anxiety, and tremors. Some conditions that affect the adrenal medulla include pheochromocytoma, a tumor that causes excessive production of epinephrine and norepinephrine, and neuroblastoma, a cancerous tumor that arises from immature nerve cells in the adrenal gland.

Abdominal neoplasms refer to abnormal growths or tumors in the abdomen that can be benign (non-cancerous) or malignant (cancerous). These growths can occur in any of the organs within the abdominal cavity, including the stomach, small intestine, large intestine, liver, pancreas, spleen, and kidneys.

Abdominal neoplasms can cause various symptoms depending on their size, location, and type. Some common symptoms include abdominal pain or discomfort, bloating, changes in bowel habits, unexplained weight loss, fatigue, and fever. In some cases, abdominal neoplasms may not cause any symptoms until they have grown quite large or spread to other parts of the body.

The diagnosis of abdominal neoplasms typically involves a combination of physical exam, medical history, imaging studies such as CT scans or MRIs, and sometimes biopsy to confirm the type of tumor. Treatment options depend on the type, stage, and location of the neoplasm but may include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these approaches.

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

Iodine radioisotopes are radioactive isotopes of the element iodine, which decays and emits radiation in the form of gamma rays. Some commonly used iodine radioisotopes include I-123, I-125, I-131. These radioisotopes have various medical applications such as in diagnostic imaging, therapy for thyroid disorders, and cancer treatment.

For example, I-131 is commonly used to treat hyperthyroidism and differentiated thyroid cancer due to its ability to destroy thyroid tissue. On the other hand, I-123 is often used in nuclear medicine scans of the thyroid gland because it emits gamma rays that can be detected by a gamma camera, allowing for detailed images of the gland's structure and function.

It is important to note that handling and administering radioisotopes require specialized training and safety precautions due to their radiation-emitting properties.

Neoplastic pregnancy complications refer to the abnormal growth of cells (neoplasia) that can occur during pregnancy. These growths can be benign or malignant and can arise from any type of tissue in the body. However, when they occur in pregnant women, they can pose unique challenges due to the potential effects on the developing fetus and the changes in the mother's body.

Some common neoplastic pregnancy complications include:

1. Gestational trophoblastic disease (GTD): This is a group of rare tumors that occur in the uterus during pregnancy. GTD can range from benign conditions like hydatidiform mole to malignant forms like choriocarcinoma.
2. Breast cancer: Pregnancy-associated breast cancer (PABC) is a type of breast cancer that occurs during pregnancy or within one year after delivery. It can be aggressive and challenging to diagnose due to the changes in the breast tissue during pregnancy.
3. Cervical cancer: Cervical cancer can occur during pregnancy, and its management depends on the stage of the disease and the gestational age. In some cases, treatment may need to be delayed until after delivery.
4. Lung cancer: Pregnancy does not increase the risk of lung cancer, but it can make diagnosis and treatment more challenging.
5. Melanoma: Melanoma is the most common malignant skin cancer during pregnancy. It can spread quickly and requires prompt treatment.

The management of neoplastic pregnancy complications depends on several factors, including the type and stage of the tumor, gestational age, and the patient's wishes. In some cases, surgery, chemotherapy, or radiation therapy may be necessary. However, these treatments can have potential risks to the developing fetus, so a multidisciplinary team of healthcare providers is often involved in the care of pregnant women with neoplastic complications.

The Von Hippel-Lindau (VHL) tumor suppressor protein is a crucial component in the regulation of cellular growth and division, specifically through its role in oxygen sensing and the ubiquitination of hypoxia-inducible factors (HIFs). The VHL protein forms part of an E3 ubiquitin ligase complex that targets HIFs for degradation under normoxic conditions. In the absence of functional VHL protein or in hypoxic environments, HIFs accumulate and induce the transcription of genes involved in angiogenesis, cell proliferation, and metabolism.

Mutations in the VHL gene can lead to the development of Von Hippel-Lindau syndrome, a rare inherited disorder characterized by the growth of tumors and cysts in various organs, including the central nervous system, retina, kidneys, adrenal glands, and pancreas. These tumors often arise from the overactivation of HIF-mediated signaling pathways due to the absence or dysfunction of VHL protein.

Norepinephrine, also known as noradrenaline, is a neurotransmitter and a hormone that is primarily produced in the adrenal glands and is released into the bloodstream in response to stress or physical activity. It plays a crucial role in the "fight-or-flight" response by preparing the body for action through increasing heart rate, blood pressure, respiratory rate, and glucose availability.

As a neurotransmitter, norepinephrine is involved in regulating various functions of the nervous system, including attention, perception, motivation, and arousal. It also plays a role in modulating pain perception and responding to stressful or emotional situations.

In medical settings, norepinephrine is used as a vasopressor medication to treat hypotension (low blood pressure) that can occur during septic shock, anesthesia, or other critical illnesses. It works by constricting blood vessels and increasing heart rate, which helps to improve blood pressure and perfusion of vital organs.

Multiple Endocrine Neoplasia Type 2b (MEN 2b) is a rare genetic disorder characterized by the development of tumors in various endocrine glands. It is caused by a mutation in the RET gene. The condition is typically diagnosed in childhood or early adulthood and is often marked by the presence of medullary thyroid carcinoma (MTC), pheochromocytomas, and multiple mucosal neuromas.

MTC is a cancer of the parafollicular cells of the thyroid gland, which can cause overproduction of calcitonin. Pheochromocytomas are tumors that develop in the adrenal glands and can lead to excessive production of catecholamines, resulting in hypertension and other symptoms. Mucosal neuromas are benign growths that occur on the mucous membranes, such as those lining the mouth, tongue, and eyelids.

Individuals with MEN 2b may also develop other features, such as Marfanoid habitus (tall and thin build, long limbs, and flexible joints), gastrointestinal autonomic dysfunction, and megacolon. The condition is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent.

Neurofibromatosis 1 (NF1) is a genetic disorder that affects the development and growth of nerve tissue. It's also known as von Recklinghausen disease. NF1 is characterized by the growth of non-cancerous tumors on the nerves, as well as skin and bone abnormalities.

The symptoms of Neurofibromatosis 1 can vary widely, even among members of the same family. Some common features include:

* Multiple café au lait spots (flat, light brown patches on the skin)
* Freckles in the underarms and groin area
* Benign growths on or under the skin called neurofibromas
* Larger, more complex tumors called plexiform neurofibromas
* Optic gliomas (tumors that form on the optic nerve)
* Distinctive bone abnormalities, such as a curved spine (scoliosis) or an enlarged head (macrocephaly)
* Learning disabilities and behavioral problems

Neurofibromatosis 1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, the production of neurofibromin is reduced or absent, leading to uncontrolled cell growth and the development of tumors.

NF1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, about half of all cases are the result of new mutations in the NF1 gene, and occur in people with no family history of the disorder.

There is currently no cure for Neurofibromatosis 1, but treatments are available to manage the symptoms and complications of the disease. These may include medications to control pain or reduce the size of tumors, surgery to remove tumors or correct bone abnormalities, and physical therapy to improve mobility and strength. Regular monitoring by a healthcare team experienced in treating Neurofibromatosis 1 is also important to detect any changes in the condition and provide appropriate care.

The adrenal glands are a pair of endocrine glands that are located on top of the kidneys. Each gland has two parts: the outer cortex and the inner medulla. The adrenal cortex produces hormones such as cortisol, aldosterone, and androgens, which regulate metabolism, blood pressure, and other vital functions. The adrenal medulla produces catecholamines, including epinephrine (adrenaline) and norepinephrine (noradrenaline), which help the body respond to stress by increasing heart rate, blood pressure, and alertness.

Tyrosine 3-Monooxygenase (also known as Tyrosinase or Tyrosine hydroxylase) is an enzyme that plays a crucial role in the synthesis of catecholamines, which are neurotransmitters and hormones in the body. This enzyme catalyzes the conversion of the amino acid L-tyrosine to 3,4-dihydroxyphenylalanine (L-DOPA) by adding a hydroxyl group to the 3rd carbon atom of the tyrosine molecule.

The reaction is as follows:

L-Tyrosine + O2 + pterin (co-factor) -> L-DOPA + pterin (oxidized) + H2O

This enzyme requires molecular oxygen and a co-factor such as tetrahydrobiopterin to carry out the reaction. Tyrosine 3-Monooxygenase is found in various tissues, including the brain and adrenal glands, where it helps regulate the production of catecholamines like dopamine, norepinephrine, and epinephrine. Dysregulation of this enzyme has been implicated in several neurological disorders, such as Parkinson's disease.

Epinephrine, also known as adrenaline, is a hormone and a neurotransmitter that is produced in the body. It is released by the adrenal glands in response to stress or excitement, and it prepares the body for the "fight or flight" response. Epinephrine works by binding to specific receptors in the body, which causes a variety of physiological effects, including increased heart rate and blood pressure, improved muscle strength and alertness, and narrowing of the blood vessels in the skin and intestines. It is also used as a medication to treat various medical conditions, such as anaphylaxis (a severe allergic reaction), cardiac arrest, and low blood pressure.

2-Hydroxyphenethylamine is a chemical compound that is classified as a phenylethylamine and a hydroxyamphetamine. It is a secondary amine with a hydroxy group attached to the benzene ring, specifically at the 2-position. This compound is a derivative of phenethylamine by the replacement of one hydrogen atom by a hydroxy group.

It is worth noting that 2-hydroxyphenethylamine itself does not have a recognized medical definition or specific clinical relevance. However, it may be encountered in the context of biochemistry, pharmacology, or forensic science. Like other phenylethylamines, it has structural similarity to certain neurotransmitters and drugs, and therefore may have potential pharmacological activity.

An adenoma is a benign tumor that forms in glandular tissue. When referring to "acidophil," it describes the appearance of the cells under a microscope. Acidophils are cells that take up acidic dyes, giving them a distinct appearance. In the context of an adenoma, an acidophil adenoma would be a benign tumor composed of acidophil cells.

Acidophil adenomas are most commonly found in the pituitary gland and are also known as lactotroph or mammosomatotroph adenomas. These tumors can produce and release prolactin, growth hormone, or both, leading to various endocrine disorders such as hyperprolactinemia, acromegaly, or gigantism. Treatment options typically include surgical removal of the tumor or medical management with dopamine agonists or somatostatin analogs.

A vipoma, also known as a verner morrison syndrome or a non-insulin-secreting pancreatic tumor, is a rare medical condition characterized by the excessive production and secretion of vasoactive intestinal peptides (VIP) from a functional neuroendocrine tumor in the pancreas. This leads to a series of symptoms known as watery diarrhea, hypokalemia, and acidosis (WDHA) syndrome due to the effects of VIP on the gastrointestinal system. Symptoms include severe watery diarrhea, dehydration, electrolyte imbalances, and low blood pressure. Treatment typically involves surgical removal of the tumor, along with supportive care to manage symptoms and correct electrolyte abnormalities.

Dihydroxyphenylalanine is not a medical term per se, but it is a chemical compound that is often referred to in the context of biochemistry and neuroscience. It is also known as levodopa or L-DOPA for short.

L-DOPA is a precursor to dopamine, a neurotransmitter that plays a critical role in regulating movement, emotion, and cognition. In the brain, L-DOPA is converted into dopamine through the action of an enzyme called tyrosine hydroxylase.

L-DOPA is used medically to treat Parkinson's disease, a neurological disorder characterized by motor symptoms such as tremors, rigidity, and bradykinesia (slowness of movement). In Parkinson's disease, the dopamine-producing neurons in the brain gradually degenerate, leading to a deficiency of dopamine. By providing L-DOPA as a replacement therapy, doctors can help alleviate some of the symptoms of the disease.

It is important to note that L-DOPA has potential side effects and risks, including nausea, dizziness, and behavioral changes. Long-term use of L-DOPA can also lead to motor complications such as dyskinesias (involuntary movements) and fluctuations in response to the medication. Therefore, it is typically used in combination with other medications and under the close supervision of a healthcare provider.

Thyroid neoplasms refer to abnormal growths or tumors in the thyroid gland, which can be benign (non-cancerous) or malignant (cancerous). These growths can vary in size and may cause a noticeable lump or nodule in the neck. Thyroid neoplasms can also affect the function of the thyroid gland, leading to hormonal imbalances and related symptoms. The exact causes of thyroid neoplasms are not fully understood, but risk factors include radiation exposure, family history, and certain genetic conditions. It is important to note that most thyroid nodules are benign, but a proper medical evaluation is necessary to determine the nature of the growth and develop an appropriate treatment plan.

Adrenal gland diseases refer to a group of medical conditions that affect the function or structure of the adrenal glands. The adrenal glands are small, triangular-shaped glands located on top of each kidney. They are responsible for producing several essential hormones, including cortisol, aldosterone, and adrenaline (epinephrine).

There are various types of adrenal gland diseases, some of which include:

1. Adrenal Insufficiency: A condition where the adrenal glands do not produce enough hormones, particularly cortisol and aldosterone. This can lead to symptoms such as fatigue, weight loss, low blood pressure, and skin hyperpigmentation.
2. Cushing's Syndrome: A condition characterized by an excess of cortisol in the body. It can be caused by a tumor in the pituitary gland or adrenal glands, or it can result from long-term use of steroid medications.
3. Adrenal Cancer: A rare type of cancer that affects the adrenal glands. Symptoms may include abdominal pain, weight loss, and high blood pressure.
4. Pheochromocytoma: A tumor that develops in the adrenal glands and causes an overproduction of adrenaline (epinephrine) and noradrenaline (norepinephrine). Symptoms may include high blood pressure, headaches, sweating, and anxiety.
5. Adrenal Hemorrhage: A condition where bleeding occurs in the adrenal glands, often as a result of severe trauma or infection. This can lead to adrenal insufficiency and other complications.
6. Congenital Adrenal Hyperplasia: An inherited disorder that affects the production of cortisol and other hormones in the adrenal glands. Symptoms may include ambiguous genitalia, precocious puberty, and short stature.

Treatment for adrenal gland diseases varies depending on the specific condition and its severity. Treatment options may include medication, surgery, or radiation therapy.

Incidental findings are diagnoses or conditions that are discovered unintentionally while evaluating a patient for a different condition or symptom. These findings are not related to the primary reason for the medical examination, investigation, or procedure. They can occur in various contexts such as radiology studies, laboratory tests, or physical examinations.

Incidental findings can sometimes lead to further evaluation and management, depending on their nature and potential clinical significance. However, they also pose challenges related to communication, informed consent, and potential patient anxiety or harm. Therefore, it is essential to have clear guidelines for managing incidental findings in clinical practice.

X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.

The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.

CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.

In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.

CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.

In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.

Dopamine is a type of neurotransmitter, which is a chemical messenger that transmits signals in the brain and nervous system. It plays several important roles in the body, including:

* Regulation of movement and coordination
* Modulation of mood and motivation
* Control of the reward and pleasure centers of the brain
* Regulation of muscle tone
* Involvement in memory and attention

Dopamine is produced in several areas of the brain, including the substantia nigra and the ventral tegmental area. It is released by neurons (nerve cells) and binds to specific receptors on other neurons, where it can either excite or inhibit their activity.

Abnormalities in dopamine signaling have been implicated in several neurological and psychiatric conditions, including Parkinson's disease, schizophrenia, and addiction.

Dopamine beta-hydroxylase (DBH) is an enzyme that plays a crucial role in the synthesis of catecholamines, which are important neurotransmitters and hormones in the human body. Specifically, DBH converts dopamine into norepinephrine, another essential catecholamine.

DBH is primarily located in the adrenal glands and nerve endings of the sympathetic nervous system. It requires molecular oxygen, copper ions, and vitamin C (ascorbic acid) as cofactors to perform its enzymatic function. Deficiency or dysfunction of DBH can lead to various medical conditions, such as orthostatic hypotension and neuropsychiatric disorders.

Radiopharmaceuticals are defined as pharmaceutical preparations that contain radioactive isotopes and are used for diagnosis or therapy in nuclear medicine. These compounds are designed to interact specifically with certain biological targets, such as cells, tissues, or organs, and emit radiation that can be detected and measured to provide diagnostic information or used to destroy abnormal cells or tissue in therapeutic applications.

The radioactive isotopes used in radiopharmaceuticals have carefully controlled half-lives, which determine how long they remain radioactive and how long the pharmaceutical preparation remains effective. The choice of radioisotope depends on the intended use of the radiopharmaceutical, as well as factors such as its energy, range of emission, and chemical properties.

Radiopharmaceuticals are used in a wide range of medical applications, including imaging, cancer therapy, and treatment of other diseases and conditions. Examples of radiopharmaceuticals include technetium-99m for imaging the heart, lungs, and bones; iodine-131 for treating thyroid cancer; and samarium-153 for palliative treatment of bone metastases.

The use of radiopharmaceuticals requires specialized training and expertise in nuclear medicine, as well as strict adherence to safety protocols to minimize radiation exposure to patients and healthcare workers.

Neoplasms are abnormal growths of cells or tissues in the body that can be benign (non-cancerous) or malignant (cancerous). When referring to "Complex and Mixed Neoplasms," it is typically used in the context of histopathology, where it describes tumors with a mixture of different types of cells or growth patterns.

A complex neoplasm usually contains areas with various architectural patterns, cell types, or both, making its classification challenging. It may require extensive sampling and careful examination to determine its nature and behavior. These neoplasms can be either benign or malignant, depending on the specific characteristics of the tumor cells and their growth pattern.

A mixed neoplasm, on the other hand, is a tumor that contains more than one type of cell or tissue component, often arising from different germ layers (the three primary layers of embryonic development: ectoderm, mesoderm, and endoderm). A common example of a mixed neoplasm is a teratoma, which can contain tissues derived from all three germ layers, such as skin, hair, teeth, bone, and muscle. Mixed neoplasms can also be benign or malignant, depending on the specific components of the tumor.

It's important to note that the classification and behavior of complex and mixed neoplasms can vary significantly based on their location in the body, cellular composition, and other factors. Accurate diagnosis typically requires a thorough examination by an experienced pathologist and may involve additional tests, such as immunohistochemistry or molecular analysis, to determine the appropriate treatment and management strategies.

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