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POSV<br />

9205<br />

PMSBB<br />

81931<br />

relative bioavailability of two oral formulations of posaconazole in healthy adults. Br J Clin Pharmacol<br />

2004;57:218-222 5. Courtney R, Radwanski E, Lim J, Laughlin M: Pharmacokinetics of posaconazole<br />

coadministered with antacid in fasting or nonfasting healthy men. Antimicrob Agents Chemother<br />

2004;48(3):804-808<br />

Post Vasectomy Check, Semen<br />

Clinical Information: Following a vasectomy, sperm may be found in the semen for 6 weeks to 3<br />

months or longer. Regular ejaculation (every 3-4 days) may eliminate sperm from the reproductive tract<br />

more quickly. To check for the absence of sperm, semen should be evaluated for the presence of sperm 2<br />

months post vasectomy and after a minimum of 10 ejaculations. Because the sperm count may be very<br />

low, the semen is centrifuged for concentration purposes. A negative result from 2 consecutive specimens<br />

collected 2 weeks apart generally indicates contraception is not necessary. Occasional cases have been<br />

reported where there is intermittent presence of sperm in the semen. Recanalization or incomplete 1-sided<br />

transection may be the cause.<br />

Useful For: Determining absence or presence of sperm post vasectomy<br />

Interpretation: No sperm cells are anticipated. If present, their concentration and motility are reported.<br />

A negative result from 2 consecutive specimens collected 2 weeks apart generally indicates contraception<br />

is not necessary. Occasional cases have been reported where there is intermittent presence of sperm in the<br />

semen. Recanalization or incomplete 1-sided transection may be the cause.<br />

Reference Values:<br />

Zero sperm seen<br />

Postmortem Screening, Bile and Blood Spots<br />

Clinical Information: Postmortem screening involves acylcarnitine analysis in blood and/or bile<br />

specimens to evaluate cases of sudden or unexpected death. Acylcarnitine analysis enables the diagnosis<br />

of many disorders of fatty acid beta oxidation and several organic acidurias, as relevant enzyme<br />

deficiencies cause the accumulation of specific acyl-CoAs. Fatty acid oxidation (FAO) plays a major role<br />

in energy production during periods of fasting. When the body's supply of glucose is depleted, fatty acids<br />

are mobilized from adipose tissue, taken up by the liver and muscles, and step-wise oxidized to<br />

acetyl-CoA. In the liver, acetyl-CoA is the building block for the synthesis of ketone bodies, which enter<br />

the blood stream and provide an alternative substrate for production of energy in other tissues when the<br />

supply of glucose is insufficient to maintain a normal level of energy. The acyl groups are conjugated<br />

with carnitine to form acylcarnitines, which are measured by tandem mass spectrometry (MS/MS).<br />

Diagnostic results are usually characterized by a pattern of significantly elevated acylcarnitine species<br />

compared to normal and disease controls. In general, more than 20 inborn errors of metabolism can be<br />

identified using this method including FAO disorders and organic acidurias. The major clinical<br />

manifestations associated with individual FAO disorders include hypoketotic hypoglycemia, variable<br />

degrees of liver disease and/or failure, skeletal myopathy, dilated/hypertrophic cardiomyopathy, and<br />

sudden or unexpected death. Organic acidurias also present as acute life-threatening events early in life<br />

with metabolic acidosis, increased anion gap, and neurologic distress. Patients with any of these disorders<br />

are at risk of developing fatal metabolic decompensations following the acquisition of even common viral<br />

infections. Once diagnosed, these disorders can be treated by avoidance of fasting, special diets, and<br />

cofactor/vitamin supplementation. In these groups of disorders, characteristic metabolites accumulate in<br />

blood and bile as carnitine derivatives. Analysis of acylcarnitines in blood and bile spots represents the<br />

first level of evaluation of a complete postmortem investigation of a sudden or unexpected death of an<br />

individual. Additional confirmatory testing is recommended. The diagnosis of an underlying FAO<br />

disorder or organic aciduria allows genetic counseling of the family, including the possible option of<br />

future prenatal diagnosis, and testing of at-risk family members of any age. Disorders Detectable by<br />

Acylcarnitine Analysis* Fatty Acid Beta-Oxidation Disorders: -Short-chain acyl-CoA dehydrogenase<br />

(SCAD) deficiency -Medium/Short-chain 3-hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency<br />

-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency -Long-chain 3-hydroxyacyl-CoA<br />

Current as of January 4, 2013 7:15 pm CST 800-533-1710 or 507-266-5700 or <strong>Mayo</strong><strong>Medical</strong><strong>Laboratories</strong>.com Page 1455

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