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Urine Vanillylmandelic Acid

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61. Radiographic Evaluation of the Pediatric Urinary Tract (Overview)

is suspected, perform the appropriate urine studies (homovanillic acid [HVA] and vanillylmandelic acid [VMA]). Cloaca Retrograde genitography and VCUG are helpful in outlining the level of confluence of the urethra, vagina, and colon when surgery is being planned. Baseline renal US is also necessary because renal agenesis, reflux, and megaureter are common associated findings. MRI of the pelvis is an important ancillary study in complex cloacal cases. Cystic kidney disease Multicystic dysplastic kidneys (...) . Dimercaptosuccinic acid scanning DMSA is bound in the cortex of the kidney after injection, revealing relative renal function. It is the criterion test for renal scarring. [ ] A bladder catheter is not required for DMSA scanning, because DMSA is not excreted into the urine. The "top-down" approach has suggested that the DMSA scan be used as the primary test in patients with UTI, in that it selects for patients with renal injury. [ ] Limitations of DMSA scanning include intermittent unavailability and the need

2014 eMedicine Pediatrics

62. Hypertension (Diagnosis)

S, Palvanov A, Bittman ME, et al. Kidney volume and ambulatory blood pressure in children. J Clin Hypertens (Greenwich) . 2016 Dec 16. . Media Gallery Management algorithm. AMC = Apparent mineralocorticoid excess; GRA = Glucocorticoid remedial aldosteronism; VMA = Vanillylmandelic acid. of 1 Tables ] Table 1. Ninety-Fifth Blood Pressure Percentiles for 50th and 75th Height Percentiles in Children and Adolescents [ ] Age, y 95th BP Percentile for Girls, mm Hg 95th BP Percentile for Boys, mm Hg (...) ), catecholamines, sympathetic nervous system, vasopressin Depressors - Atrial natriuretic hormones, endothelial relaxing factors, kinins, prostaglandin E 2 , prostaglandin I 2 Changes in electrolyte homeostasis, particularly changes in sodium, calcium, and potassium concentrations, affect some of these factors. Under normal conditions, the amount of sodium excreted in the urine matches the amount ingested, resulting in near constancy of extracellular volume. Retention of sodium results in increased

2014 eMedicine Pediatrics

63. Adrenal Glands (Treatment)

, arrhythmias, headache, fatigue, visual blurring, sweating and heat intolerance, weight loss, abdominal pain, and polyuria and polydipsia. These symptoms should prompt biochemical testing to confirm excess catecholamine secretion characteristic of pheochromocytoma. Measurement of urinary catecholamines, epinephrine and norepinephrine, and their metabolites (ie, metanephrine, homovanillic acid, and vanillylmandelic acid) in a 24-hour urine collection is a sensitive (>90%) test for the diagnosis (...) , with lesser amounts of sulfates formed. About 75% of these degradation products are excreted in the urine, and the rest is excreted in the stool by means of the bile. Mineralocorticoids Aldosterone accounts for 90% of mineralocorticoid activity, with some activity contributed by deoxycorticosterone, corticosterone, and cortisol. The normal concentration of aldosterone in the blood ranges from 2 to 16 ng/dL supine and from 5 to 41 ng/dL upright, though the concentration exhibits diurnal variation

2014 eMedicine Pediatrics

64. von Hippel-Lindau Disease (Follow-up)

catecholamines and urinary catecholamine metabolites (inclusive of vanillylmandelic acid [VMA], fractionated metanephrines [especially normetanephrines], and total catecholamines) is performed to detect pheochromocytomas, even when hypertension is absent. Screening for pheochromocytomas and paragangliomas should include measurements of plasma-free metanephrines or urinary fractionated metanephrines. The 2014 Endocrine Society Guidelines for obtaining sera and urine samples are as follows: For a blood sample (...) for glial fibrillary acid protein and neuron-specific enolase. [ ] Retinal capillary hemangiomas, usually supplied by large dilated feeder vessels, may occur in any part of the retina. Serum leakage from these vessels and hemangiomas leads to retinal exudates. Organized fibroglial bands with traction retinal detachment and vitreous hemorrhage may occur, along with potential complications such as glaucoma or permanent vision loss. [ ] (See the image below.) von Hippel-Lindau disease. Spectral display

2014 eMedicine Pediatrics

65. Pheochromocytoma (Diagnosis)

and metabolism of catecholamines: Tyrosine → dihydroxyphenylalanine (DOPA) → dopamine (DA) → norepinephrine + epinephrine → homovanillic acid (HVA) + vanillylmandelic acid (VMA) The biosynthesis and storage of catecholamines in chromaffin cell tumors may differ from the biosynthesis and storage in the normal medulla. However, the granules are morphologically and functionally similar to the granules from the adrenal medulla. The increase in tissue turnover suggests an alteration in the regulation (...) . . Pamporaki C, Därr R, Bursztyn M, et al. Plasma-free vs deconjugated metanephrines for diagnosis of phaeochromocytoma. Clin Endocrinol (Oxf) . 2013 Mar 5. . Hickman PE, Leong M, Chang J, Wilson SR, McWhinney B. Plasma free metanephrines are superior to urine and plasma catecholamines and urine catecholamine metabolites for the investigation of phaeochromocytoma. Pathology . 2009 Feb. 41(2):173-7. . Boyle JG, Davidson DF, Perry CG, Connell JM. Comparison of diagnostic accuracy of urinary free

2014 eMedicine Pediatrics

66. Radiographic Evaluation of the Pediatric Urinary Tract (Diagnosis)

is suspected, perform the appropriate urine studies (homovanillic acid [HVA] and vanillylmandelic acid [VMA]). Cloaca Retrograde genitography and VCUG are helpful in outlining the level of confluence of the urethra, vagina, and colon when surgery is being planned. Baseline renal US is also necessary because renal agenesis, reflux, and megaureter are common associated findings. MRI of the pelvis is an important ancillary study in complex cloacal cases. Cystic kidney disease Multicystic dysplastic kidneys (...) . Dimercaptosuccinic acid scanning DMSA is bound in the cortex of the kidney after injection, revealing relative renal function. It is the criterion test for renal scarring. [ ] A bladder catheter is not required for DMSA scanning, because DMSA is not excreted into the urine. The "top-down" approach has suggested that the DMSA scan be used as the primary test in patients with UTI, in that it selects for patients with renal injury. [ ] Limitations of DMSA scanning include intermittent unavailability and the need

2014 eMedicine Pediatrics

67. von Hippel-Lindau Disease (Treatment)

catecholamines and urinary catecholamine metabolites (inclusive of vanillylmandelic acid [VMA], fractionated metanephrines [especially normetanephrines], and total catecholamines) is performed to detect pheochromocytomas, even when hypertension is absent. Screening for pheochromocytomas and paragangliomas should include measurements of plasma-free metanephrines or urinary fractionated metanephrines. The 2014 Endocrine Society Guidelines for obtaining sera and urine samples are as follows: For a blood sample (...) for glial fibrillary acid protein and neuron-specific enolase. [ ] Retinal capillary hemangiomas, usually supplied by large dilated feeder vessels, may occur in any part of the retina. Serum leakage from these vessels and hemangiomas leads to retinal exudates. Organized fibroglial bands with traction retinal detachment and vitreous hemorrhage may occur, along with potential complications such as glaucoma or permanent vision loss. [ ] (See the image below.) von Hippel-Lindau disease. Spectral display

2014 eMedicine Pediatrics

68. Adrenal Carcinoma (Diagnosis)

AC typically present with any of the following: Fever Weight loss Abdominal pain and tenderness Back pain Abdominal fullness Symptoms related to metastases See for more detail. Diagnosis Laboratory studies These include the following: Serum glucose Serum cortisol Serum adrenal androgen Urine adrenal hormone Urine vanillylmandelic acid (VMA) Urine homovanillic acid (HVA) levels Imaging studies Adrenal computed tomography (CT) scanning and magnetic resonance imaging (MRI) are the imaging studies (...) , TP57 , TP16 , H19 , retinoblastoma gene, APC gene, and various deoxyribonucleic acid (DNA) repair ̶ enzyme genes Inhibition of senescence and/or apoptosis: Mutations involving telomerase and/or BCL-2 genes Changes in adrenocortical tissue-specific factors: Mutations involving the genes for StaR, SF-1 (steroidogenic factor), and Dax-1 transcription factor Aberrant expression of receptors to normal adrenocorticotropic agents and ligands: Adrenocorticotropic hormone, angiotensin 2, catecholamines

2014 eMedicine.com

69. Adrenal Glands (Follow-up)

, arrhythmias, headache, fatigue, visual blurring, sweating and heat intolerance, weight loss, abdominal pain, and polyuria and polydipsia. These symptoms should prompt biochemical testing to confirm excess catecholamine secretion characteristic of pheochromocytoma. Measurement of urinary catecholamines, epinephrine and norepinephrine, and their metabolites (ie, metanephrine, homovanillic acid, and vanillylmandelic acid) in a 24-hour urine collection is a sensitive (>90%) test for the diagnosis (...) , with lesser amounts of sulfates formed. About 75% of these degradation products are excreted in the urine, and the rest is excreted in the stool by means of the bile. Mineralocorticoids Aldosterone accounts for 90% of mineralocorticoid activity, with some activity contributed by deoxycorticosterone, corticosterone, and cortisol. The normal concentration of aldosterone in the blood ranges from 2 to 16 ng/dL supine and from 5 to 41 ng/dL upright, though the concentration exhibits diurnal variation

2014 eMedicine Pediatrics

70. Neuroblastoma (Diagnosis)

] rate), patients older than 18 months with metastatic disease fare poorly. Generally, more than 50% of patients present with metastatic disease at the time of diagnosis, 20-25% have localized disease, 15% have regional extension, and approximately 7% present during infancy with disseminated disease limited to the skin, liver, and bone marrow (stage 4S). Physiologic and biochemical More than 90% of patients have elevated homovanillic acid (HVA) and/or vanillylmandelic acid (VMA) levels detectable (...) in urine. Mass screening studies using urinary catecholamines in neonates and infants in Japan, Quebec, and Europe have demonstrated the ability to detect neuroblastoma before it is clinically apparent. However, most of the tumors identified occur in infants with a good prognosis. None of these studies shows that mass screening decreases deaths due to high-risk neuroblastoma. Markers associated with a poor prognosis include (1) elevated ferritin levels, (2) elevated serum lactate dehydrogenase (LDH

2014 eMedicine Pediatrics

71. Adrenal Carcinoma (Overview)

AC typically present with any of the following: Fever Weight loss Abdominal pain and tenderness Back pain Abdominal fullness Symptoms related to metastases See for more detail. Diagnosis Laboratory studies These include the following: Serum glucose Serum cortisol Serum adrenal androgen Urine adrenal hormone Urine vanillylmandelic acid (VMA) Urine homovanillic acid (HVA) levels Imaging studies Adrenal computed tomography (CT) scanning and magnetic resonance imaging (MRI) are the imaging studies (...) , TP57 , TP16 , H19 , retinoblastoma gene, APC gene, and various deoxyribonucleic acid (DNA) repair ̶ enzyme genes Inhibition of senescence and/or apoptosis: Mutations involving telomerase and/or BCL-2 genes Changes in adrenocortical tissue-specific factors: Mutations involving the genes for StaR, SF-1 (steroidogenic factor), and Dax-1 transcription factor Aberrant expression of receptors to normal adrenocorticotropic agents and ligands: Adrenocorticotropic hormone, angiotensin 2, catecholamines

2014 eMedicine Pediatrics

72. Adrenal Glands (Overview)

, arrhythmias, headache, fatigue, visual blurring, sweating and heat intolerance, weight loss, abdominal pain, and polyuria and polydipsia. These symptoms should prompt biochemical testing to confirm excess catecholamine secretion characteristic of pheochromocytoma. Measurement of urinary catecholamines, epinephrine and norepinephrine, and their metabolites (ie, metanephrine, homovanillic acid, and vanillylmandelic acid) in a 24-hour urine collection is a sensitive (>90%) test for the diagnosis (...) , with lesser amounts of sulfates formed. About 75% of these degradation products are excreted in the urine, and the rest is excreted in the stool by means of the bile. Mineralocorticoids Aldosterone accounts for 90% of mineralocorticoid activity, with some activity contributed by deoxycorticosterone, corticosterone, and cortisol. The normal concentration of aldosterone in the blood ranges from 2 to 16 ng/dL supine and from 5 to 41 ng/dL upright, though the concentration exhibits diurnal variation

2014 eMedicine Pediatrics

73. Hypertension (Overview)

S, Palvanov A, Bittman ME, et al. Kidney volume and ambulatory blood pressure in children. J Clin Hypertens (Greenwich) . 2016 Dec 16. . Media Gallery Management algorithm. AMC = Apparent mineralocorticoid excess; GRA = Glucocorticoid remedial aldosteronism; VMA = Vanillylmandelic acid. of 1 Tables ] Table 1. Ninety-Fifth Blood Pressure Percentiles for 50th and 75th Height Percentiles in Children and Adolescents [ ] Age, y 95th BP Percentile for Girls, mm Hg 95th BP Percentile for Boys, mm Hg (...) ), catecholamines, sympathetic nervous system, vasopressin Depressors - Atrial natriuretic hormones, endothelial relaxing factors, kinins, prostaglandin E 2 , prostaglandin I 2 Changes in electrolyte homeostasis, particularly changes in sodium, calcium, and potassium concentrations, affect some of these factors. Under normal conditions, the amount of sodium excreted in the urine matches the amount ingested, resulting in near constancy of extracellular volume. Retention of sodium results in increased

2014 eMedicine Pediatrics

74. Neuroblastoma (Overview)

] rate), patients older than 18 months with metastatic disease fare poorly. Generally, more than 50% of patients present with metastatic disease at the time of diagnosis, 20-25% have localized disease, 15% have regional extension, and approximately 7% present during infancy with disseminated disease limited to the skin, liver, and bone marrow (stage 4S). Physiologic and biochemical More than 90% of patients have elevated homovanillic acid (HVA) and/or vanillylmandelic acid (VMA) levels detectable (...) in urine. Mass screening studies using urinary catecholamines in neonates and infants in Japan, Quebec, and Europe have demonstrated the ability to detect neuroblastoma before it is clinically apparent. However, most of the tumors identified occur in infants with a good prognosis. None of these studies shows that mass screening decreases deaths due to high-risk neuroblastoma. Markers associated with a poor prognosis include (1) elevated ferritin levels, (2) elevated serum lactate dehydrogenase (LDH

2014 eMedicine Pediatrics

75. Horner Syndrome (Diagnosis)

a significant role in the diagnosis and management of Horner syndrome. However, depending on the localization and suspected etiology, certain laboratory tests may be considered, as follows: Urine test (ie, vanillylmandelic acid [VMA] and homovanillic acid [HVA]) in pediatric Horner syndrome to rule out neuroblastoma Complete blood count (CBC) Fluorescent treponemal antibody absorption (FTA-ABS) test Venereal Disease Research Laboratory (VDRL) test (for rare cases of syphilitic basilar meningitis or when (...) The drops are relatively expensive The test can yield equivocal results Cocaine metabolites may be detected in urine Topical apraclonidine test The topical apraclonidine test is a practical and reliable alternative to the topical cocaine test; it is readily available and adequately sensitive (87%) and is currently the test of choice. [ , , ] Apraclonidine is an ocular hypotensive agent that acts as a weak alpha1-agonist and a strong alpha2-agonist. [ , , , ] Typically given in a 0.5% or 1% solution

2014 eMedicine.com

76. Pediatrics, Anaphylaxis (Treatment)

is secreted constitutively by the mast cells. The ratio of total tryptase to β-tryptase can help distinguish systemic mastocytosis from anaphylaxis. A ratio ≤10 implies anaphylaxis, whereas a ratio ≥20 is consistent with systemic mastocytosis. [ ] C1INH, VMA, RAST, and Cutaneous Antigen Testing Other tests that may be useful in distinguishing anaphylaxis from the differential diagnosis include C1 inhibitor functional assay (C1INH) ( ) and urine vanillylmandelic acid (VMA) and serum serotonin levels

2014 eMedicine Emergency Medicine

77. Organic Solvents (Diagnosis)

crosslinking in gamma-diketone neuropathy: in vitro and in vivo studies using the seaworm myxicola infundibulum. Neurotoxicology . 1989 Winter. 10(4):743-56. . Stanosz S, Kuligowski D, Pieleszek A, Zuk E, Rzechula D, Chlubek D. Concentration of dopamine in plasma, activity of dopamine beta-hydroxylase in serum and urinary excretion of free catecholamines and vanillylmandelic acid in women chronically exposed to carbon disulphide. Int J Occup Med Environ Health . 1994. 7(3):257-61. . Suwanlaong K (...) for polyvinylchloride resins for plastics, floor coverings, upholstery, appliances, packaging Xylene Paint, lacquers, varnishes, inks, dyes, adhesives, cements, fixative for pathologic specimens Table 2. Exposure levels Believed Safe for Workers Compound Urine Blood Expired Air Acetone Acetone, formic acid 100 mg/L Acetone Acetone Benzene Total phenol 50 mg/g at the end of the shift, trans-trans- muconic acid Benzene Benzene before shift, 0.08 ppm; end exhaled, 0.12 ppm Carbon disulfide 2-TTCA 5 mg/g * Carbon

2014 eMedicine.com

78. Von Hippel-Lindau Syndrome

3 years to age 50 years then every 5 years thereafter Abdominal CT scanning every 3 years (more often if multiple renal cysts are present) Annual 24-hour urine collection for vanillylmandelic acid (VMA) levels At-risk relatives - The same protocol is followed as for asymptomatic patients, apart from age limits, which are as follows: Annual direct and indirect ophthalmoscopy from age 5 years Annual fluorescein angiography or angiography from age 10 years until age 60 years MRI or CT scanning (...) such as headaches, ataxia, and blindness. The exact neurologic deficit depends on the site of the primary lesion. Cambridge protocol The Cambridge protocol was devised by Maher et al for screening patients with VHL disease or at-risk relatives. The protocol is as follows [ ] : Affected asymptomatic patient: Annual physical examination and urine test Annual direct and indirect ophthalmoscopy Annual fluorescein angiography or angiography Annual renal ultrasonographic examination MRI or CT scan of the brain every

2014 eMedicine Radiology

79. Adrenal Carcinoma (Diagnosis)

AC typically present with any of the following: Fever Weight loss Abdominal pain and tenderness Back pain Abdominal fullness Symptoms related to metastases See for more detail. Diagnosis Laboratory studies These include the following: Serum glucose Serum cortisol Serum adrenal androgen Urine adrenal hormone Urine vanillylmandelic acid (VMA) Urine homovanillic acid (HVA) levels Imaging studies Adrenal computed tomography (CT) scanning and magnetic resonance imaging (MRI) are the imaging studies (...) , TP57 , TP16 , H19 , retinoblastoma gene, APC gene, and various deoxyribonucleic acid (DNA) repair ̶ enzyme genes Inhibition of senescence and/or apoptosis: Mutations involving telomerase and/or BCL-2 genes Changes in adrenocortical tissue-specific factors: Mutations involving the genes for StaR, SF-1 (steroidogenic factor), and Dax-1 transcription factor Aberrant expression of receptors to normal adrenocorticotropic agents and ligands: Adrenocorticotropic hormone, angiotensin 2, catecholamines

2014 eMedicine Pediatrics

80. Adrenal Glands (Diagnosis)

, arrhythmias, headache, fatigue, visual blurring, sweating and heat intolerance, weight loss, abdominal pain, and polyuria and polydipsia. These symptoms should prompt biochemical testing to confirm excess catecholamine secretion characteristic of pheochromocytoma. Measurement of urinary catecholamines, epinephrine and norepinephrine, and their metabolites (ie, metanephrine, homovanillic acid, and vanillylmandelic acid) in a 24-hour urine collection is a sensitive (>90%) test for the diagnosis (...) , with lesser amounts of sulfates formed. About 75% of these degradation products are excreted in the urine, and the rest is excreted in the stool by means of the bile. Mineralocorticoids Aldosterone accounts for 90% of mineralocorticoid activity, with some activity contributed by deoxycorticosterone, corticosterone, and cortisol. The normal concentration of aldosterone in the blood ranges from 2 to 16 ng/dL supine and from 5 to 41 ng/dL upright, though the concentration exhibits diurnal variation

2014 eMedicine Pediatrics

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