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A. Thorek, M.B. B.CH. B.A.O., Ph.D.

Clinical Director, University of Iowa Roy J. and Lucille A. Carver College of Medicine

To verify a preliminary diagnosis based on the analysis, independent biochemical (eg, in vitro enzyme assay) or molecular genetic analyses are required. Reference Values: Disease Gaucher Marker Acid beta-glucosidase Normal range > or =1. Lysosomes perform catabolic functions for cells, which is accomplished through activity of various proteins such as lysosomal enzymes, transport proteins, and other proteins. Functional deficits in these proteins cause an accumulation of substrates in cells leading to progressive organ dysfunction. This leads to variable clinical features that can affect the cardiovascular, neurological, ocular, and skeletal systems, among others. Clinical features are dependent on the amount and location of the substrate accumulation but may include the following: characteristic facial features (coarse features), hepatomegaly, deafness, vision loss, abnormal skeletal findings, hydrops fetalis, ataxia, hypotonia, developmental delay/regression, and intellectual disability. Alterations in various genes on this panel have also been associated with Parkinson disease or Lewy body disease. These alterations are not reported for individuals younger than 18 years of age but are available upon request. Parenti G, Andria G, Ballabio A: Lysosomal storage diseases: from pathophysiology to therapy. Major categories include mucopolysaccharidoses, oligosaccharidoses, mucolipidoses, and sphingolipidoses. The oligosaccharidoses (glycoproteinoses) are a subset of lysosomal storage disorders caused by the deficiency of any one of the lysosomal enzymes involved in the degradation of complex oligosaccharide chains. They are characterized by the abnormal accumulation of incompletely degraded oligosaccharides in cells and tissues and the corresponding increase of related free oligosaccharides in the urine. Clinical features can include bone abnormalities, coarse facial features, corneal cloudiness, organomegaly, muscle weakness, hypotonia, developmental delay, and ataxia. The sphingolipidoses are a subset of lysosomal storage disorders caused by a defect in any one of the enzymes that degrade complex ceramide containing lipids. They are characterized by the excessive accumulation of sphingolipids in the tissues, particularly in the central nervous system resulting in progressive neurodegeneration and developmental regression. In 2 conditions, Fabry disease and Gaucher disease type I, there is only systemic involvement. In many cases, sphingolipidoses can be detected by through oligosaccharide analysis in urine. Abnormal results can be followed up with the appropriate enzyme or molecular analysis. Specific enzymatic or molecular assays is recommended to confirm positive results. Lysosomal storage disorders are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules due to defects in their transport mechanisms across the lysosomal membrane or due to defective lysosomal enzyme function. The accumulation of these macromolecules leads to cell damage and eventually, organ dysfunction. More than 40 lysosomal storage disorders have been described with a wide phenotypic spectrum. Impaired enzyme activity results in accumulation of undegraded glucocerebrosides in the lysosome, resulting in organ dysfunction and organomegaly. Gaucher cells, found in the spleen, bone marrow, lung, lymph nodes, and liver, are characteristic of the disease. There are 3 clinical types of Gaucher disease with varying presentations and age of onset, but all include hepatosplenomegaly and hematological abnormalities as symptoms. Treatment is available in the form of enzyme replacement therapy, substrate reduction therapy, and chaperone therapy for types 1 and 3 (type 3, subacute neuropathic/juvenile). Complete loss of enzyme activity causes onset in infancy leading to death, typically within the first year of life. Because Pompe disease is considered a rare condition that progresses rapidly in infancy, the disease, in particular the juvenile and adult-onset forms, is often considered late, if at all, during the evaluation of individuals presenting with muscle hypotonia, weakness, or cardiomyopathy. Treatment with enzyme replacement therapy is available making early diagnosis of Pompe disease desirable, as early initiation of treatment may improve prognosis. Rapid neurodegeneration including white matter disease follows with death usually occurring by age 2. Juvenile and adult onset variants present later in life, progress more slowly and, based on newborn screening experience in New York, appear to be more common than the earlier onset variants. Of note, Krabbe disease variants, including pseudodeficiency, may not be discriminated by enzyme activity measurement.

Useful For: Carrier testing for Canavan disease in individuals of Ashkenazi Jewish ancestry Prenatal diagnosis of Canavan disease in at-risk pregnancies Confirmation of a suspected clinical diagnosis of Canavan disease in individuals of Ashkenazi Jewish ancestry Interpretation: An interpretative report will be provided. In patients with advanced disease who have undergone cytoreductive surgery and are on chemotherapy, a prolonged half-life (>20 days) may be associated with a shortened disease-free survival. The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer. These tumors often produce mucinous antigens, which are large molecular weight glycoproteins with O-linked oligosaccharide chains. Interpretation: Increasing and decreasing values show correlation with disease progression and regression, respectively. Reference Values: Males: <30 U/mL (use not defined) Females: <30 U/mL Clinical References: 1. Useful For: Establishing a diagnosis of an allergy to Candida albicans (Monilia) Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic disease and/or anaphylactic episode -To confirm sensitization prior to beginning immunotherapy -To investigate the specificity of allergic reactions to insect venom allergens, drugs, or chemical allergens Interpretation: Detection of IgE antibodies in serum (Class 1 or greater) indicates an increased likelihood of allergic disease as opposed to other etiologies and defines the allergens that may be responsible for eliciting signs and symptoms. The normal reference ranges reported represent the expected results for individuals who have no unusual exposure and have not been immunized with the indicated allergen. In addition to causing disease, Candida auris can colonize individuals without signs or symptoms of disease. Candida auris can cause serious and sometimes fatal infections, is often resistant to one or more classes of antifungal drugs, and inappropriate treatment may occur as it can be misidentified in the laboratory. A second group of people for whom screening is recommended includes health care workers who have been in close contact with patients who have previously unrecognized Candida auris infection or colonization. Useful For: Detection of Candida auris from surveillance swabs this test should not be used to determine cure or to monitor response to therapy. In addition, Candida auris appears to be more resistant to disinfection than other yeasts, leading to prolonged survival in the environment and increasing the possibility of transmission in hospitals and nursing homes. Useful For: Detection of Candida auris in whole blood specimens this test should not be used to determine cure or to monitor response to therapy. The first case of Candida auris in the U S was reported in 2015, and cases have been reported in a number of states. Candidia auris can cause serious and sometimes fatal infections, is often resistant to one or more classes of antifungal drugs, and inappropriate treatment may occur as it can be misidentified in the laboratory. These patients have frequently been found to have Candida auris colonization as well. Useful For: Detection of Candida auris in urine specimens this test should not be used to determine cure or to monitor response to therapy. Useful For: Establishing the diagnosis of an allergy to caraway Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: - Responsible for allergic disease and/or anaphylactic episode - To confirm sensitization prior to beginning immunotherapy - To investigate the specificity of allergic reactions to insect venom allergens, drugs, or chemical allergens Testing for IgE antibodies is not useful in patients previously treated with immunotherapy to determine if residual clinical sensitivity exists, or in patients in whom the medical management does not depend upon identification of allergen specificity. A minority of carbamazepine- or oxcarbazepine-treated persons have cutaneous adverse reactions that vary in prevalence and severity, with some forms associated with substantial morbidity and mortality. For additional information regarding pharmacogenomic genes and their associated drugs, see the Pharmacogenomic Associations Tables. It is a first-line drug for treatment of partial seizures and trigeminal neuralgia. It is frequently administered in conjunction with other antiepileptic agents, such as phenytoin and valproic acid. Under normal circumstances, the carbamazepine that circulates in blood is 75% protein bound. In severe uremia, carbamazepine may be displaced from protein, resulting in a higher free (unbound) fraction of the drug circulating in blood. Since neurologic activity and toxicity are directly related to the circulating free fraction of drug, adjustment of dosage based on knowledge of the free carbamazepine level may be useful in patients with severe uremia. Useful For: Monitoring carbamazepine (free and total) therapy in uremic patients Interpretation: In patients with normal renal function, optimal response is often associated with free (unbound) carbamazepine levels greater than 1. In uremic patients, the free carbamazepine level may be a more useful guide for dosage adjustments than the total level.

Shima T, Tada H, Morimoto M, et al: Serum total bile acid level as a sensitive indicator of hepatic histological improvement in chronic hepatitis C patients responding to interferon treatment. Lebovics E, Seif F, Kim D, et al: Pruritus in chronic hepatitis C: Association with high serum bile acids, advanced pathology, and bile duct abnormalities. Total serum bile acids or serum bile acid profile, or both, for the diagnosis of intrahepatic cholestasis of pregnancy. Mass spectrometry testing may be used to monitor the biochemical response to primary bile acid therapy and to help in decisions on dose adjustments, where compliance should lead to a reduction in levels of atypical bile acids. Cytologic analysis complements biopsy by sometimes detecting malignancy in patients with a negative biopsy. Nonetheless, a number of studies suggest that the overall sensitivity of bile duct brushing and bile aspirate cytology is quite low. Useful For: Assessing bile duct brushing or hepatobiliary brushing specimens for malignancy Interpretation: An interpretive report will be provided. Reference Values: No abnormality detected by fluorescence in situ hybridization Clinical References: 1. A positive cytology diagnosis is normally definitive for the presence of malignancy. Suspicious or atypical results need further confirmation by clinical observation, repeat cytology, or perhaps appropriate biopsy. After production in peripheral tissues, bilirubin is rapidly taken up by hepatocytes where it is conjugated with glucuronic acid to produce mono- and diglucuronide, which are excreted in the bile. Disorders may be classified as those due to: increased bilirubin production (eg, hemolysis and ineffective erythropoiesis), decreased bilirubin excretion (eg, obstruction and hepatitis), and abnormal bilirubin metabolism (eg, hereditary and neonatal jaundice). Inherited disorders in which direct bilirubinemia occurs include Dubin-Johnson syndrome and Rotor syndrome. Jaundice of the newborn where direct bilirubin is elevated includes idiopathic neonatal hepatitis and biliary atresia. The most commonly occurring form of jaundice of the newborn, physiological jaundice, results in unconjugated (indirect) hyperbilirubinemia. Elevated unconjugated bilirubin in the neonatal period may result in brain damage (kernicterus). The increased production of bilirubin that accompanies the premature breakdown of erythrocytes and ineffective erythropoiesis results in hyperbilirubinemia in the absence of any liver abnormality. Thus, both conjugated and unconjugated bilirubin is retained and a wide range of abnormal serum concentrations of each form of bilirubin may be observed. Both conjugated and unconjugated bilirubin are increased in hepatocellular diseases such as hepatitis and space-occupying lesions of the liver, and obstructive lesions such as carcinoma of the head of the pancreas, common bile duct, or ampulla of Vater. Useful For: Evaluation of jaundice and liver functions Interpretation: Direct bilirubin levels must be assessed in conjunction with total and indirect levels and the clinical setting. If the value is higher than that of serum and is greater than 6 mg/dL, and the ascitic fluid amylase is not elevated (indicating upper intestinal perforation), it can be assumed that the gallbladder has perforated into the peritoneum (choleperitoneum) and/or bowel or biliary perforation has occurred. Bilirubin values tend to be higher in exudates than in transudates, although there is some overlap between groups which limits the usefulness of its measure. Useful For: Evaluation of peritoneal fluid or abdominal drain fluid as a screening test for bile leakage May aid in the distinction between a transudative and an exudative pleural effusion Interpretation: Bilirubin may be measured in other fluids although the decision limits are not well defined in fluids other than pleural fluid. Darwin P, Goldberg E, Uradomo L: Jackson Pratt drain fluid-to-serum bilirubin concentration ratio for the diagnosis of bile leaks. Only conjugated bilirubin is excreted into the urine and normally only trace amounts can be detected in urine. Elevated urinary bilirubin occurs in patients with obstructive jaundice or jaundice due to hepatocellular disease or injury. However, urine bilirubin is relatively insensitive for detection of liver disease. Hyperbilirubinemia due to hemolysis is principally due to unconjugated bilirubin, and therefore does not result in increased urinary bilirubin. Useful For: Limited use in screening of patients for liver disease Interpretation: Elevated urinary bilirubin is suggestive of hepatocellular disease or post-hepatic biliary obstruction. After production in peripheral tissues, bilirubin is rapidly taken up by hepatocytes where it is conjugated with glucuronic acid to produce bilirubin mono- and diglucuronide, which are then excreted in the bile. The most commonly occurring form of unconjugated hyperbilirubinemia is that seen in newborns and referred to as physiological jaundice.

Syndromes

• Denatured alcohol
• Proper diet
• If the medication was prescribed for the patient
• Being exposed to radiation
• Creatinine - blood
• Seizures
• People with a scissors gait often lose skin sensation. Skin care should be used to avoid skin sores.
• Fresh and dried fruits

Although each of these syndromes is clinically identifiable and separable when occurring in pure form, experience shows that most patients suffer from symptoms of more than one type and therefore are said to have "mixed neuroses. It is evident from these and several other attempts at classification that a single definition- one that would satisfactorily explain the attributes of all the neuroses- is still to come. Syndromes as different as hypochondriasis and panic reaction are not likely to lend themselves to a unitary explanation. If there is a central feature of the neuroses, however, it is thought to be anxiety, which runs as a kind of leitmotif through all of them. Even in hysterical neurosis and sociopathy, in which patients seem indifferent to their disabilities, there is often a strong undercurrent of anxiety. In an epidemiologic survey sponsored by the National Institute of Mental Health, it was estimated that approximately onethird of the population of the United States, at some point during their lives, have some type of mental disorder. In this survey, disorders related to chronic alcoholism were the most common, followed by anxiety, alterations in mood, and obsessive-compulsive, phobic, conversion, and so-called posttraumatic stress disorders. A different view of the relative frequency of mental disorders was provided by an analysis of 1045 consecutive psychiatric consultations at the New England Center Hospital (now New England Medical Center) during the years 1955 and 1956. In this tertiary referral hospital, the dominant psychiatric syndrome in about 20 percent of patients was an anxiety state. Other epidemiologic studies have also disclosed a strikingly high incidence of anxiety disorders in the general population (see the review of Winokur and Coryell). Lifetime prevalence figures indicate that at least 11 percent of the population is so affected- i. Such information as is available suggests that the incidence of the neuroses is much the same in an urban population (midtown New York) as it is in a rural one (Stirling County, Nova Scotia) indicating that socioeconomic, racial, and cultural factors are of relatively little importance. Furthermore, in times of calamity, such as the bombing of London, the incidence of neurotic symptoms was said not to have increased. Thus one tends to dismiss as an oversimplification the notion that neuroses are merely by-products of life in civilized society or reactions to environmental stress (see also Chap. Admittedly, neurotic symptoms may be recognized for the first time after this age, but a good clinical rule is to suspect any mental illness that appears for the first time after the age of 40 years to be either a depression or a dementia that is due to degenerative or other organic disease of the brain. However, as indicated earlier, parts of this constellation also appear in several other psychiatric diseases- manic-depressive psychosis, schizophrenia, hysteria, and phobic neurosis. Its closest link is with depression, which it resembles in another respect- namely, there is a strong hereditary factor in both, as pointed out by our colleague, Mandel Cohen in 1940. Clinical Presentation Anxiety neurosis is a chronic disease, punctuated by recurrent attacks of acute anxiety or panic. Because of the clinical features of panic attacks and particularly their episodic nature, which simulates an acute medical condition, they are of special interest to neurologists and general physicians. The patient is assailed by a sense of strangeness, as though his body had changed or the surroundings were unreal (depersonalization; derealization). He is frightened, sometimes by the prospect of imminent death (angor animi) or of losing his mind or self-control. The heart races, breathing comes in rapid gasps, pupils are dilated, and the patient sweats and trembles. The palpitation and breathing difficulties are so prominent that a cardiologist is often called. Some of our psychiatric colleagues identify breathlessness or a suffocating feeling as central to the diagnosis of panic and will not make the diagnosis without it (some of them also attribute great psychologic meaning to the symptom). The symptoms abate spontaneously after 15 to 30 min, leaving the patient shaken, tense, perplexed, and often embarrassed. There is no element of confusion, and after the episode, there is full memory of the event. The patient complains of faintness, palpitations, or a feeling of postural instability, referred to as dizziness. Breathlessness, vague chest or upper abdominal discomfort, a palpatory feeling as if the heart were beating too hard, and asthenia are other common symptoms. Over 50 years ago Cohen and White listed the following symptoms in order of frequency in the patients they observed: palpitation, 97 percent; easy fatigue, 93 percent; breathlessness, 90 percent; nervousness, 88 percent; chest pain, 85 percent; sighing, 79 percent; dizziness, 78 percent; apprehensiveness, 61 percent; headache, 58 percent; paresthesias, 58 percent; weakness, 56 percent; insomnia, 53 percent; unhappiness, 50 percent.