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Diseases » Thyroid disorders » Diagnosis
 

Diagnosis of Thyroid disorders

Thyroid disorders Diagnosis: Book Excerpts

Diagnosis of Thyroid disorders: medical news summaries:

The following medical news items are relevant to diagnosis and misdiagnosis issues for Thyroid disorders:

Diagnostic Tests for Thyroid disorders: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Thyroid disorders.


THYROID ENLARGEMENT: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

  1. Is it focal or diffuse? Focal masses in the thyroid include thyroglossal cyst, toxic adenoma, colloid cyst, Riedel's struma, nontoxic adenoma, and malignancies.
  2. Is there movement with protrusion of the tongue? This is a typical finding in cases of thyroglossal cyst.
  3. If focal, are there signs of thyrotoxicosis? The presence of thyrotoxicosis and a focal mass suggest toxic adenoma.
  4. If diffuse, are there signs of thyrotoxicosis? Diffuse thyroid enlargement with thyrotoxicosis indicates Graves' disease.
  5. Is it tender? The presence of a tender enlarged thyroid suggests subacute thyroiditis and Hashimoto's thyroiditis.

DIAGNOSTIC WORKUP

Routine tests include a CBC, sedimentation rate, urinalysis, thyroid profile with a TSH immunoassay, chemistry panel, chest x-ray, and EKG. Thyroid antibodies may be tested if Hashimoto's thyroiditis is suspected.

The most important study is a thyroid technetium-99m or iodine-123 uptake and scan. If the results of these are abnormal, then an endocrinologist or general surgeon should be consulted to assist in the interpretation. If the scan indicates a cold nodule, ultrasonography may be done to determine whether the nodule is cystic or solid. If it is cystic, generally it can be aspirated and followed. If it is solid, a biopsy or aspiration and biopsy should be undertaken. If there are malignant cells or at least suspicious cells for malignancy, surgery should be done. If the scan reveals a hot nodule and there is clinical and laboratory evidence of thyrotoxicosis, the patient should be treated with radioactive iodine or surgery. If the scan shows diffuse uptake of radioactive materials and there is clinical thyrotoxicosis, the patient also may be treated with radioactive iodine or surgery.

 

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

WEIGHT LOSS: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

  1. Is there fever? The presence of fever would suggest an infectious disease, such as tuberculosis, AIDS, brucellosis, and typhoid fever, but collagen diseases and neoplasms should not be forgotten.
  2. Is there anorexia? The presence of anorexia may be related to a febrile process, but if there is no fever one should consider the possibility of Addison's disease, anorexia nervosa, Simmonds' disease, drug abuse, poisoning such as arsenic poisoning, scurvy, malabsorption syndrome, uremia, and liver failure. There may also be a neoplasm.
  3. Is there lymphadenopathy? The presence of generalized lymphadenopathy should suggest leukemia, sarcoidosis, and lymphoma, as well as infectious disease processes.
  4. Is there an abdominal mass? An abdominal mass may be an enlarged spleen, a pancreatic carcinoma, an enlarged liver, or renal mass. These masses would suggest disease of those organs. The mass also may be a carcinoma of the stomach or intestine.
  5. Is there hyperpigmentation? The presence of hyperpigmentation would suggest Addison's disease.
  6. Is the appetite normal or increased? The presence of a normal or increased appetite in the presence of weight loss should suggest hyperthyroidism and diabetes mellitus. The patient also may be taking thyroid hormone medication in increased quantities.
  7. Is the thyroid gland enlarged? The presence of an enlarged thyroid would suggest hyperthyroidism. One should also look for a focal thyroid mass which might be a toxic adenoma.
  8. Is the chest x-ray abnormal? Abnormalities found on x-ray that may induce weight loss are carcinoma of the lung, tuberculosis, congestive heart failure, pulmonary emphysema, and fibrosis.

DIAGNOSTIC WORKUP

Routine diagnostic studies include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid panel, serum amylase and lipase, febrile agglutinins, tuberculin test, ANA titer, serum protein electrophoresis, serum B 12 and folic acid, chest x-ray, EKG, and a flat plate of the abdomen. An HIV antibody titer needs to be done in selected clinical circumstances.

A stool for fat, trypsin, occult blood, and ovum and parasites should be done. Further tests for steatorrhea are listed on page 446 . If these tests are within normal limits or are unrevealing, it is best to refer the patient to a gastroenterologist or oncologist for further evaluation. Sometimes, clinical clues suggest the need for an endocrinologist or psychiatrist as well. However, if the primary care physician wishes to proceed further, he may order an upper GI series and esophagogram, a small bowel series, barium enema, and a sigmoidoscopic examination. A CT scan of the abdomen and pelvis may be useful, but it is an expensive procedure.

Twenty-four-hr urine collection for 17-ketosteroids and 17-hydroxysteroids or rapid ACTH stimulation test will diagnose Addison's disease. Quantitative stool fat and d -xylose absorption or a simple glucose tolerance test will diagnose some cases of malabsorption syndrome. Endoscopic procedures, including laparoscopy and even an exploratory laparotomy, have their place in the diagnostic workup. However, it is always best to enlist the help of specialists before considering these procedures, even if one is located in an isolated community.

 

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

Weight Loss: Differential Diagnosis
(In a Page: Signs and Symptoms)

  • Malignancy
    –Mediated by enhanced production of cytokines (e.g., TNF-α , interleukin-6)
    • Gastrointestinal and malabsorption disorders (e.g., celiac disease, Crohn's disease, cystic fibrosis, PUD)
      –Diarrhea is often present
    • Depression
      –Weight loss is one diagnostic criterion
      –Most common cause of weight loss in outpatient populations
  • HIV infection
  • Hypercalcemia
    –Usually occurs in patients with cancer
  • Advanced cardiac and pulmonary disease
    –CHF (“cardiac cachexia”)
    –COPD
  • Chronic drug use (e.g., alcohol, nicotine, lead, opiates, CNS stimulants)
  • Hyperthyroidism
    –Increased appetite and increased energy expenditure
    –May present with tachycardia, hypertension, brisk reflexes, and ophthalmopathy
  • Uncontrolled diabetes mellitus
  • Hyperemesis gravidarum
    –Pathologic exaggeration of early-pregnancy nausea
    –Elevated β-hCG and estrogen levels
    • Adrenal insufficiency
      –Anorexia, nausea, and fatigue are common
      • Anorexia nervosa
        –May present with low albumin, parotid enlargement, lesions on knuckles and diminished tooth enamel from induced vomiting, and menstrual irregularities
    • Failure to thrive (infants)
      –Parental neglect, emotional deprivation
      –Improper mixing of formula
      –Significant heart (shunts) or lung disease
      –Inborn errors of metabolism
    • Intestinal parasites

    Workup and Diagnosis

    • Comprehensive history and physical examination, including assessment of diet and caloric intake
    • In patients with adequate caloric intake, endocrine and malabsorptive disorders are more likely
    • Initial tests may include CBC, serum chemistries, glucose (to rule out diabetes), thyroid function tests, ESR, and albumin and/or prealbumin
    • HIV testing if risk factors are present
    • Chest X-ray in smokers
    • Age-appropriate cancer screening (e.g., mammography, fecal occult blood testing, flexible sigmoidoscopy or colonoscopy)
    • Morning (AM) cortisol and ACTH stimulation test if suspect adrenal insufficiency
    • Consider upper GI endoscopy, colonoscopy, and GI consult

    » READ BOOK EXCERPT ONLINE »

    Source: In a Page: Signs and Symptoms, 2004

    Weight Gain: Differential Diagnosis
    (In a Page: Signs and Symptoms)

    • Primary obesity due to overeating and a sedentary lifestyle
    • Medication side effects (e.g., oral contraceptives, corticosteroids, antidepressants, benzodiazepines, hypoglycemics, and anticonvulsants)
    • Overeating secondary to nicotine withdrawal, depression, binge phase of bulimia nervosa
    • Pregnancy
    • Pre-eclampsia/eclampsia
    • Premenstrual syndrome
    • Nephrotic syndrome
      –Renal loss of protein results in decreased intravascular oncotic pressure, leading to water “leakage” to extravascular compartments (e.g., edema, ascites)
      –Due to primary renal disease or secondary causes (e.g., diabetes mellitus)
    • Acute or chronic liver disease
      –Decreased hepatic protein production results in decreased intravascular oncotic pressure, leading to water “leakage” to extravascular compartments (e.g., edema, ascites)
    • Congestive heart failure
    • Hypothyroidism
    • Diabetes mellitus
      • Polycystic ovarian syndrome
        –Associated with hirsutism, menstrual irregularities, insulin resistance, obesity
      • Cushing's syndrome
        –Excess cortisol levels due to ACTH-secreting adrenal adenoma, adrenal hyperplasia, ACTH-secreting ectopic tumor, or ACTH-secreting pituitary adenoma (Cushing's disease)
      • Less common etiologies (“zebras”) include hypothalamic lesions (e.g., tumor, infection), hyperphagia due to hyperthyroidism, acromegaly (growth hormone excess, usually due to a pituitary tumor), or growth hormone deficiency

      Workup and Diagnosis

      • Complete history and physical examination
        –Baseline weight, rapidity of weight gain, food diary, medication list, tobacco and/or alcohol use, menstrual history, review of systems, and screen for depression
        –Note body habitus (e.g., Cushing's often presents with moon facies, buffalo hump, and thin extremities)
        –Note body hair distribution (scarce in hypothyroidism; hirsutism in PCOS and Cushing's syndrome)
        –Note skin appearance (abdominal striae and easy bruising in Cushing's; acanthosis nigricans in diabetes)
        –Check for peripheral edema and ascites (CHF, nephrotic syndrome, liver disease, pre-eclampsia)
      • Initial labs include CBC (leukocytosis in Cushing's, thrombocytopenia in pre-eclampsia), fasting glucose (elevated in diabetes and Cushing's), BUN/creatinine (rule out renal failure), urinalysis (excessive proteinuria and lipiduria in nephrotic syndrome; proteinuria in pre-eclampsia and diabetes), TSH (hypothyroidism), lipid profile (hypercholesterolemia in nephrotic syndrome, Cushing's, diabetes), albumin (decreased in nephrotic syndrome and liver disease), and urine β-hCG
      • Further studies may include 24-hour urine (if urinalysis reveals >3 g proteinuria), LFTs (elevated in liver disease and pre-eclampsia), dexamethasone suppression test (rule out Cushing's), chest X-ray and/or echocardiogram (rule out CHF if pulmonary edema suspected on exam), abdominal ultrasound and/or CT scan (rule out liver or renal disease), and/or pelvic ultrasound (rule out polycystic ovaries)

    » READ BOOK EXCERPT ONLINE »

    Source: In a Page: Signs and Symptoms, 2004

    Weight Loss: Differential Diagnosis
    (In A Page: Pediatric Signs and Symptoms)

    • Infectious
      –The most common cause overall and can be divided into acute and chronic
      –Gastroenteritis most common infection
      –May be viral, bacterial, fungal, or parasitic
      –Estimated 21–37 million episodes a year in children under 5
      –Others include strep, osteomyelitis, EBV, TB
    • Psychiatric/psychosocial
      –Anorexia nervosa
      –Bulimia
      –Depression
      –Rumination
      –Drugs: Cocaine, amphetamines, laxatives
      • Gastrointestinal disorders
        –Gastroesophageal reflux disease
        –Inflammatory bowel disease
        –Hepatitis
        –Pancreatitis
        –Pancreatic insufficiency (e.g., CF, Shwachman syndrome)
        –Celiac disease
        –Sucrase-isomaltase deficiency
        –Fat malabsorption: Abetalipoproteinemia
        –Protein malabsorption: Hartnup disease
        –Superior mesenteric artery syndrome
    • Nutritional
      –Dieting; inadequate caloric intake
      –Iron deficiency
      –Zinc deficiency
      –Neglect
    • Metabolic/endocrine
      –Diabetes mellitus
      –Diabetes insipidus
      –Addison disease
      –Hyperthyroidism
      –Hypopituitarism
    • Malignancy
    • HIV
    • Acute/chronic renal failure
    • Inflammatory
      –Systemic lupus erythematosus
      –Juvenile rheumatoid arthritis
      –Sarcoidosis
    • Neurologic
      –Increased ICP: Pseudotumor cerebri, mass
    • Cardiopulmonary
      –Cystic fibrosis
      –Congenital heart disease
      –Congestive heart failure

    Workup and Diagnosis

    • History
      –Bowel function including number and consistency of stools, melena, hematochezia, vomiting, abdominal pain, fever, headache, diaphoresis, sick contacts, travel history, oral intake
      –Diet history: Food consumption, number of meals
      –Medications: Prescription and over-the-counter
      –Social history: Changes in family structure, alcohol, illicit drug use, smoking, changes in grades in school, changes in activities and interests
      –Developmental history: Milestones, multiple points on growth curve
      • Physical exam
        –Height/weight, pulse, blood pressure, mucous membranes, scleral icteris, adenopathy, neck mass, thyroid, lung sounds, murmurs, abdominal mass/tenderness, hepatosplenomegaly, skin turgor, joint tenderness, neuro exam including funduscopy, gynecologic exam
    • Laboratory/radiology are based on H&P
      –Initial electrolytes, CBC with differential
      –Consider LFT, amylase/lipase, ESR, iron studies
      –Throat culture, stool culture, stool for O&P
      –Stool for blood, urinalysis and culture, fat/reducing substances, thyroid function
      –HIV test, PPD
      –Consider chest X-ray
      –Limited value of CT/MRI unless dictated by H&P

    » READ BOOK EXCERPT ONLINE »

    Source: In A Page: Pediatric Signs and Symptoms, 2007

    Diarrhea – Chronic, No Blood or Weight Loss: Differential Diagnosis
    (In A Page: Pediatric Signs and Symptoms)

    • Osmotic: Presence of nonabsorbable solute, pH <5, volume <200 mL/day, normal electrolytes, stops with fasting
    • Secretory: Mostly due to toxins, pH >6, volume >200 mL/day, no response to fasting, stool Na >70 mEq/L, negative reducing substances
    • Toddler's diarrhea: Chronic nonspecific diarrhea, onset 3 months to 3 years of age, average 4–6 stools daily, due to excessive juice intake or low-fat diet
    • Excessive intake of nonabsorbable solutes (lactulose, sorbitol, magnesium hydroxide)
    • Congenital lactose deficiency: Very rare in infancy, but may occur in extremely premature infants; adult-onset type of hypolactasia may be seen in older children (over age 5), autosomal recessive, 15% white adults, 85% of black adults, 90% of Asian adults
    • Secondary lactase deficiency: Follows a viral gastroenteritis, most commonly rotavirus, may persist for months
    • Fructose intolerance
    • Sucrase-isomaltase deficiency: Autosomal recessive, found in 0.2% of North Americans, symptoms commence on starting sucrose or glucose polymer-containing foods
    • Glucose-galactose malabsorption: Rare, autosomal recessive disorder
      • Infections
        –Giardiasis (most common infectious cause of chronic diarrhea in toddlers)
        –Cryptosporidium
        –Microsporidium
      • Irritable bowel syndrome (IBS)
        –Abnormality of intestinal motility and pain perception with no organic basis
        –Abdominal pain associated with intermittent diarrhea or constipation
    • Bacterial overgrowth: Enteric bacteria colonizes the upper small intestine
    • Trehelase deficiency (trehelose is the sugar found in mushrooms)
    • Zinc deficiency
      –Acrodermatitis enteropathica is typical rash
    • Low-fat diet

    Workup and Diagnosis

    • History
      –Weight loss
      –Daycare setting, ill contacts
      –Diet history: Type and amount of fluids daily (intake of >150 mL/kg/day with normal weight and height suggests toddler's diarrhea)
      –Frequency of stool and consistency
      –Associated symptoms: Abdominal pain, bloating, flatulence, rash, fever, or vomiting
      –Onset of symptoms and relation to ingestion of milk, sucrose, or glucose
      –Worsening with stress (typical for IBS)
      –Exposure to lakes, well water (suggestive of parasite)
      –Travel history
      –Excessive “sugar free” gum chewing (sorbitol)
      • Stool examination
        –Gross examination (blood, mucus, undigested food)
        –Color is not helpful
        –Occult blood test (not detected in IBS)
        –pH: Stool pH <5 indicates osmotic diarrhea from reducing sugars (sucrose and trehelose are nonreducing)
        –Stool cultures, O&P, Clostridium difficile toxin
    • More studies only if all of above failed to reveal cause
      • Hydrogen breath test
        –Detects carbohydrate malabsorption (lactose, sucrose, fructose, glucose) and bacterial overgrowth
    • Stool electrolytes if secretory diarrhea is suspected
    >>>

    » READ BOOK EXCERPT ONLINE »

    Source: In A Page: Pediatric Signs and Symptoms, 2007

    Diarrhea – Chronic, with Weight Loss: Differential Diagnosis
    (In A Page: Pediatric Signs and Symptoms)

    • Allergic enteritis: Typically cow's milk or soy in infants
    • Inflammatory bowel disease (IBD)
    • Cystic fibrosis (CF)
      –Chronic diarrhea may be the only sign
      –90% have pancreatic insufficiency (PI)
    • Celiac disease (CD): Gluten sensitivity, increased incidence in selective IgA deficiency, DM, and Down syndrome
    • Immune deficiency (e.g., hypogammaglobulinemia)
    • Sucrase-isomaltase deficiency: Autosomal recessive, symptoms with starting sucrose or glucose polymer-containing diet
    • Microvillus inclusion disease: Most common cause of persistent diarrhea in the neonatal period
      • Schwachman-Diamond syndrome
        –Pancreatic insufficiency, neutropenia, short stature, skeletal abnormalities
      • Johannson-Blizzard syndrome
        –Pancreatic insufficiency, scalp defects, agenesis of nasal cartilage, deafness, imperforate anus
    • Whipple disease:
      Tropheryma whippelii (actinomycete)
      –Diagnosed mainly in adults
      –Weight loss, diarrhea, and arthropathy
    • Tropical sprue: Common in developing countries; folate deficiency and diarrhea
    • Neural crest tumors: Pheochromocytoma, VIPoma, Zollinger-Ellison syndrome, carcinoid tumors
    • Mastocytoma
    • Neuroblastoma
    • Abetalipoproteinemia
    • Giardiasis, Strongyloides, coccidia
    • AIDS
    • Acrodermatitis enteropathica: Zinc deficiency, acral perioral and perianal rashes, consider underlying cystic fibrosis
      • Mutational defects in ion transport proteins
        –Chloride-losing diarrhea: Rare, ileal chloride transport defect, maternal polyhydramnios
        –Congenital sodium diarrhea
    • Tufting enteropathy (epithelial dysplasia)
    • Enterokinase deficiency

    Workup and Diagnosis

    • History and physical exam
      –Diet history and nutritional assessment, onset, frequency, and consistency, history of foreign travel
      –Associated symptoms: Vomiting, irritability, and rashes (dermatitis herpetiformis) with CD; frequent infections in CF and Schwachman-Diamond; digital clubbing in CF, CD, and IBD
      –Hypertension, tachycardia, anxiety, flushing, and sweating with pheochromocytoma; peptic ulcers with Zollinger-Ellison; wheezing, abdominal pain, flushing with carcinoid tumors; pruritus, flushing, and apnea with mastocytoma
    • Stool examination: Oily, bulky, and foul-smelling with fat malabsorption; massive watery stools with secretory diarrhea; blood and mucus seen with colitis; stool for ova and parasites or antigen test for Giardia; WBC, eosinophils in allergic disease; occult blood test, stool pH, electrolytes, osmolarity, reducing substances
    • PI proven by 72-hour fecal fat, stool elastase, secretin stimulation test, fat-soluble vitamin deficiency (ADEK)
    • CBC, ESR, electrolytes, LFT, albumin (low in CD or IBD)
    • Sucrose breath test for sucrase-isomaltase deficiency
    • Sweat test to rule out CF
    • Endoscopic biopsy: CD, IBD, Whipple diagnosis, microvillus inclusion (abetalipoproteinemia)
    • Hormonal assay: Gastrin, vasocative intestinal peptide
    • Anti-tissue transglutaminase IgA antibodies for CD

    » READ BOOK EXCERPT ONLINE »

    Source: In A Page: Pediatric Signs and Symptoms, 2007

    WEIGHT LOSS: Approach to the Diagnosis
    (Differential Diagnosis in Primary Care)

    Weight loss rarely occurs as the only symptom. When it seems to be the only symptom, there is almost invariably a psychiatric disorder such as depression or anorexia nervosa to explain it. More often the diagnosis of weight loss can be made by the other associated symptoms. For example, weight loss with a good appetite, polyuria, and polydypsia should point to hyperthyroidism and diabetes mellitus. Weight loss with weakness and polydypsia but no increase of appetite points to diabetes insipidus. Weight loss, weakness, and loss of appetite suggest the possibility of a malignancy, chronic infectious disease, or endocrine disorder. Weight loss with significant local or generalized lymphadenopathy suggests chronic leukemia, lymphoma, sarcoidosis, or a chronic infectious disease process. Weight loss with hyperpigmentation of the skin suggests Addison disease or hemochromatosis. Weight loss with significant pallor of the skin and mucus membranes suggests a diagnosis of anemia, malabsorption syndrome, and malignancy. Weight loss with jaundice suggests alcoholic cirrhosis, chronic hepatitis, primary or metastatic neoplasm of the liver, or biliary cirrhosis. The initial workup of weight loss should include a CBC, sedimentation rate, chemistry panel, thyroid profile, urinalysis, stool for occult blood, chest x-ray, and flat plate of the abdomen. If there is fever, the workup of this symptom can be pursued (see page 207). Other tests may be ordered depending on which disease is suspected. Before ordering a battery of tests, it may be wise to get a psychiatric consult and make sure there is not a “supratentorial” cause for the problem.

    » READ BOOK EXCERPT ONLINE »

    Source: Differential Diagnosis in Primary Care, 2007

    Thyroid enlargement: History and physical examination
    (Handbook of Signs & Symptoms (Third Edition))

    The patient’s history commonly reveals the cause of thyroid enlargement. Important data includes a family history of thyroid disease, onset of thyroid enlargement, any previous irradiation of the thyroid or the neck, recent infections, and the use of thyroid replacement drugs.

    Begin the physical examination by inspecting the patient’s trachea for midline deviation. Although you can usually see the enlarged gland, you should always palpate it. To palpate the thyroid gland, you’ll need to stand behind the patient. Give the patient a cup of water, and have him extend his neck slightly. Place the fingers of both hands on the patient’s neck, just below the cricoid cartilage and just lateral to the trachea. Tell the patient to take a sip of water and swallow. The thyroid gland should rise as he swallows. Use your fingers to palpate laterally and downward to feel the whole thyroid gland. Palpate over the midline to feel the isthmus of the thyroid.

    During palpation, be sure to note the size, shape, and consistency of the gland, and the presence or absence of nodules. Using the bell of a stethoscope, listen over the lateral lobes for a bruit. The bruit is often continuous.

    » READ BOOK EXCERPT ONLINE »

    Source: Handbook of Signs & Symptoms (Third Edition), 2006

    Weight gain, excessive: History and physical examination
    (Handbook of Signs & Symptoms (Third Edition))

    Determine your patient’s previous patterns of weight gain and loss. Does he have a family history of obesity, thyroid disease, or diabetes mellitus? Assess his eating and activity patterns. Has his appetite increased? Does he exercise regularly or at all? Next, ask about associated symptoms. Has he experienced visual disturbances, hoarseness, paresthesia, or increased urination and thirst? Has he become impotent? If the patient is female, has she had menstrual irregularities or experienced weight gain during menstruation?

    Form an impression of the patient’s mental status. Is he anxious or depressed? Does he respond slowly? Is his memory poor? What medications is he using?

    During your physical examination, measure skin-fold thickness to estimate fat reserves. (See Evaluating nutritional status, pages 644 and 645.) Note fat distribution and the presence of localized or generalized edema and overall nutritional status. Inspect for other abnormalities, such as abnormal body hair distribution or hair loss and dry skin. Take and record the patient’s vital signs.

    » READ BOOK EXCERPT ONLINE »

    Source: Handbook of Signs & Symptoms (Third Edition), 2006

    Low birth weight: History and physical examination
    (Handbook of Signs & Symptoms (Third Edition))

    As soon as possible, evaluate the neonate’s neuromuscular and physical maturity to determine gestational age. (See Ballard Scale for calculating gestational age, pages 382 and 383.) Follow with a routine neonatal examination.

    » READ BOOK EXCERPT ONLINE »

    Source: Handbook of Signs & Symptoms (Third Edition), 2006

    Weight loss, excessive: History and physical examination
    (Handbook of Signs & Symptoms (Third Edition))

    Begin with a thorough diet history because weight loss almost always is caused by inadequate caloric intake. If the patient hasn’t been eating properly, try to determine why. Ask him about previous weight and if the recent loss was intentional. Be alert to lifestyle or occupational changes that may be a source of anxiety or depression. For example, has he gotten separated or divorced? Has a family member or friend died recently? Has he recently changed jobs?

    Inquire about recent changes in bowel habits, such as diarrhea or bulky, floating stools. Has the patient had nausea, vomiting, or abdominal pain, which may indicate a GI disorder? Has he had excessive thirst, excessive urination, or heat intolerance, which may signal an endocrine disorder? Take a careful drug history, noting especially any use of diet pills and laxatives.

    Carefully check the patient’s height and weight, and ask about his previous weight. Take his vital signs and note his general appearance: Is he well nourished? Do his clothes fit? Is muscle wasting evident? Ask about exact weight changes (with approximate dates).

    Next, examine the patient’s skin for turgor and abnormal pigmentation, especially around the joints. Does he have pallor or jaundice? Examine his mouth, including the condition of his teeth or dentures. Look for signs of infection or irritation on the roof of the mouth, and note any hyperpigmentation of the buccal mucosa. Also, check the patient’s eyes for exophthalmos and his neck for swelling; evaluate his lungs for adventitious sounds. Inspect his abdomen for signs of wasting, and palpate for masses, tenderness, and an enlarged liver.

    Conventional laboratory and radiologic investigations such as complete blood count, serum albumin levels, urinalysis, chest X-ray, and upper GI series usually reveal the cause. Almost all physical causes are clinically evident during the initial evaluation. Cancer, GI disorders, and depression are the most common pathologic causes.

    » READ BOOK EXCERPT ONLINE »

    Source: Handbook of Signs & Symptoms (Third Edition), 2006

    Thyroiditis: Diagnosis
    (Professional Guide to Diseases (Eighth Edition))

    Precise diagnosis depends on the type of thyroiditis:

    Autoimmune: high titers of thyroglobulin and microsomal antibodies present in serum

    Subacute granulomatous: elevated erythrocyte sedimentation rate, increased thyroid hormone levels, decreased thyroidal radioiodine uptake

    Chronic infective and noninfective: varied findings, depending on underlying infection or other disease.

    » READ BOOK EXCERPT ONLINE »

    Source: Professional Guide to Diseases (Eighth Edition), 2005

    Thyroid cancer: Diagnosis
    (Professional Guide to Diseases (Eighth Edition))

    The first clue to thyroid cancer is usually an enlarged, palpable node in the thyroid gland, neck, lymph nodes of the neck, or vocal cords. A patient history of radiation therapy or a family history of thyroid cancer supports the diagnosis. However, tests must rule out nonmalignant thyroid enlargements, which are much more common. Thyroid scan differentiates between functional nodes (rarely malignant) and hypofunctional nodes (commonly malignant) by measuring how readily nodules trap isotopes compared with the rest of the thyroid gland. In thyroid cancer, the scinti-scan shows a “cold,” nonfunctioning nodule. Other tests include needle biopsy, computed tomography scan, ultrasonic scan, chest X-ray, serum alkaline phosphatase, and serum calcitonin assay to diagnose medullary cancer. Calcitonin assay is a reliable clue to silent medullary carcinoma. (See Staging thyroid cancer.)

    » READ BOOK EXCERPT ONLINE »

    Source: Professional Guide to Diseases (Eighth Edition), 2005

    Thyroid enlargement: History and physical examination
    (Professional Guide to Signs & Symptoms (Fifth Edition))

    The patient’s history commonly reveals the cause of thyroid enlargement. Important data include a family history of thyroid disease, when the thyroid enlargement began, any previous irradiation of the thyroid or the neck, recent infections, and the use of thyroid replacement drugs.

    Begin the physical examination by inspecting the patient’s trachea for midline deviation. Although you can usually see the enlarged gland, you should always palpate it. To palpate the thyroid gland, you’ll need to stand behind the patient. Give the patient a cup of water, and have him extend his neck slightly. Place the fingers of both hands on the patient’s neck, just below the cricoid cartilage and just lateral to the trachea. Tell the patient to take a sip of water and swallow. The thyroid gland should rise as he swallows. Use your fingers to palpate laterally and downward to feel the whole thyroid gland. Palpate over the midline to feel the isthmus of the thyroid.

    During palpation, be sure to note the size, shape, and consistency of the gland as well as the presence or absence of nodules. Using the bell of a stethoscope, listen over the lateral lobes for a bruit, which is commonly continuous.

    » READ BOOK EXCERPT ONLINE »

    Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

    Weight gain, excessive: History and physical examination
    (Professional Guide to Signs & Symptoms (Fifth Edition))

    Determine your patient’s previous patterns of weight gain and loss. Does he have a family history of obesity, thyroid disease, or diabetes mellitus? Assess his eating and activity patterns. Has his appetite increased? Does he exercise regularly or at all? Next, ask about associated symptoms. Has he experienced visual disturbances, hoarseness, paresthesia, or increased urination and thirst? Has he become impotent? If the patient is female, has she had menstrual irregularities or experienced weight gain during menstruation?

    Form an impression of the patient’s mental status. Is he anxious or depressed? Does he respond slowly? Is his memory poor? What medications is he using?

    During your physical examination, measure skin-fold thickness to estimate fat reserves. (See Evaluating nutritional status.) Note fat distribution, the presence of localized or generalized edema, and overall nutritional status. Examine the patient for other abnormalities, such as abnormal body hair distribution or hair loss and dry skin. Take and record the patient’s vital signs.

    » READ BOOK EXCERPT ONLINE »

    Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

    Low birth weight: History and physical examination
    (Professional Guide to Signs & Symptoms (Fifth Edition))

    As soon as possible, evaluate the neonate’s neuromuscular and physical maturity to determine gestational age. (See Ballard Scale for calculating gestational age, pages 488 and 489.) Follow with a routine neonatal examination.

    » READ BOOK EXCERPT ONLINE »

    Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

    Weight loss, excessive: History and physical examination
    (Professional Guide to Signs & Symptoms (Fifth Edition))

    Begin with a thorough diet history because weight loss is almost always caused by inadequate caloric intake. If the patient hasn’t been eating properly, try to determine why. Ask about his previous weight and whether the recent loss was intentional. Be alert for lifestyle or occupational changes that may be causing anxiety or depression. For example, has he gotten separated or divorced? Has he recently changed jobs?

    Inquire about recent changes in bowel habits, such as diarrhea or bulky, floating stools. Has the patient had nausea, vomiting, or abdominal pain, which may indicate a GI disorder? Has he had excessive thirst, excessive urination, or heat intolerance, which may signal an endocrine disorder? Take a careful drug history, noting especially the use of diet pills or laxatives.

    Carefully check the patient’s height and weight, and ask about exact weight changes with approximate dates. Take his vital signs and note his general appearance: Is he well nourished? Do his clothes fit? Is muscle wasting evident?

    Next, examine the patient’s skin for turgor and abnormal pigmentation, especially around the joints. Does he have pallor or jaundice? Examine his mouth, including the condition of his teeth or dentures. Look for signs of infection or irritation on the roof of the mouth, and note any hyperpigmentation of the buccal mucosa. Also, check the patient’s eyes for exophthalmos and his neck for swelling; auscultate his lungs for adventitious sounds. Inspect his abdomen for signs of wasting, and palpate for masses, tenderness, and an enlarged liver.

    Conventional laboratory and radiologic tests, such as complete blood count, serum albumin levels, urinalysis, chest
    X-rays, and upper GI series, usually reveal the cause. Almost all physical causes are clinically evident during the initial evaluation. Cancer, GI disorders, and depression are the most common pathologic causes.

    » READ BOOK EXCERPT ONLINE »

    Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

    Weight Loss: History: Initial data
    (The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

    A. Is the loss intentional? Consider dieting, diuretics, and eating disorders.

    B. What is the patient’s average daily or weekly intake? Consider frequency of meals, appetite changes, and difficulty with food preparation.

    C. Tobacco, alcohol, and drug histories are very important and frequently lead to other concerns.

     D. Chronic conditions? Medical, surgical, psychiatric, and family histories are always pertinent.

     E. Social factors include stress, isolation, and the cost and effort required to eat.

    Basic physical examination

    A. Relevant physical findings will be present in 66% of cases (1,2,5).

    B. Quantify loss by serial weight measurements.

    C. Check the vital signs: temperature, blood pressure, and respiratory and heart rates. Consider determining oxygen saturation.

    D. Perform a physical examination, with emphasis on areas suggested by clues from the history.

    » READ BOOK EXCERPT ONLINE »

    Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000

    Thyroid Enlargement/Goiter: History
    (The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

    In simple goiter, patients are asymptomatic or, if the gland is sufficiently enlarged, they present with symptoms caused by mechanical pressure. Substernal goiters are frequently responsible for tracheal pressure symptoms, including dyspnea and inspiratory stridor. They can also obstruct the large cervical veins at the thoracic inlet, causing suffusion of the face, giddiness, and syncope (Pemberton’s sign). Esophageal compression can lead to dysphagia (Chapter 9.5). Hoarseness caused by compression of or traction on the recurrent laryngeal nerve is rare in simple goiter and suggests a malignancy (Chapter 6.3). Generalized thyroid pain suggests subacute thyroiditis, whereas sudden localized pain and swelling are consistent with hemorrhage into a nodule. Although simple goiters are usually euthyroid, typical symptoms of hypothyroidism or thyrotoxicosis should be sought. A family history of goiter and a personal history of residing in an endemic goiter area or ingesting goitrogens may be significant (1).

    Physical examination

    A. General examination. Look for typical vital and physical signs consistent with hypothyroidism or thyrotoxicosis. Pemberton’s sign can be induced by having the patient raise both arms above the head.

    B. Thyroid examination. Inspect the neck below the thyroid cartilage from the front, using cross-lighting to accentuate shadows and masses. Full extension of the neck enhances visibility of the gland. Inspection from the side with measurement of any prominence of the normally smooth and straight contour between the cricoid cartilage and the suprasternal notch is useful. Palpitation is done using the technique with which the examiner is most experienced and skilled. Approach the patient from either the front or behind and palpate using the fingers or thumbs. If felt between the cricoid cartilage and the suprasternal notch, the thyroid isthmus can be used to help locate the gland. Palpation of the lobes can be improved by relaxation of the sternocleidomastoid; for example, the left lobe can be defined better by having the patient slightly flex and rotate the neck to the left. Other useful maneuvers include measuring the circumference of the neck or the dimensions of each lobe. Note the location, size, consistency, mobility, and tenderness of any nodules. Having the patient swallow during both inspection and palpation causes the thyroid to move and aids in developing a three-dimensional impression of gland shape and size. This maneuver can also make a low-placed gland accessible. Categorize thyroid size as “normal” or “goiter,” and subcategorize “goiter” as “small” (two or less times normal) or “large” (more than two times normal) (2).

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    Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000

    Thyroid Nodule: History
    (The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

    Although history is neither sensitive nor specific for diagnosing thyroid cancer, an appropriately focused history can significantly alter the clinical likelihood of malignancy (2).

     A. Family history. Approximately 3% of cases of papillary cancer are familial and a high incidence has been reported in patients with adenomatous polyposis coli (Gardner’s syndrome). Medullary cancer often occurs in a hereditary pattern.

     B. Personal history. Recent increase in size of a nodule, hoarseness, dysphagia, stridor, or dyspnea can indicate growth or invasiveness and increase the suspicion of cancer. Recurrence of cystic nodules after aspiration is also suggestive of cancer.

     1. External beam irradiation before the age of 15 to 20 years, which has been done for conditions such as acne and thymic or tonsillar enlargement, or exposure to ionizing radiation from a nuclear accident, increases the risk of thyroid carcinoma. The risk increases for 15 to 25 years after exposure, remains maximal and stable for 20 years, and then slowly declines.

     2. Sudden onset of localized swelling, pain, or tenderness suggests hemorrhage into a preexisting nodule or cyst. Subacute thyroiditis is suggested by fever, a preceding viral illness, and a gradual onset of swelling, pain, and tenderness. Typical symptoms of hypothyroidism suggests Hashimoto’s thyroiditis, whereas thyrotoxicosis suggests toxic adenoma or toxic multinodular goiter (3).

    Physical examination

     As with the history, physical examination is neither sensitive nor specific for malignancy.

    A. General examination. Look for typical vital and physical signs consistent with hypothyroidism or thyrotoxicosis.

     B. Thyroid examination. Inspect the neck below the thyroid cartilage from the front and side, using cross-lighting to accentuate shadows and masses. Full extension of the neck enhances visibility of the gland. During palpation, approach the patient from either the front or behind and palpate using the fingers or thumbs. Having the patient swallow during both inspection and palpation causes the thyroid to move and aids in developing a three-dimensional impression of the gland. Note the location, size, consistency, mobility, and tenderness of all nodules. Findings suggestive of cancer include a nodule that is hard, irregular, nontender, greater than 4 cm in size, fixed to surrounding structures or associated with local lymphadenopathy.

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    Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000

    Neck Mass/Thyroid Enlargement: Differential Overview
    (Field Guide to Bedside Diagnosis)

    Neck Mass

    ❑ Inflammatory lymphadenopathy

    ❑ Parotid swelling/tumor

    ❑ Laryngeal cancer

    ❑ Intramuscular hematoma

    ❑ Lymphoma

    ❑ Nasopharyngeal carcinoma

    ❑ Branchial cleft cyst

    ❑ Thyroglossal duct cyst

    ❑ Supraclavicular adenopathy

    ❑ Aortic aneurysm

    ❑ Carotid aneurysm

    ❑ Ludwig angina

    ❑ Pharyngeal pouch

    ❑ Carotid body tumor

    Thyroid Enlargement

    ❑ Simple goiter

    ❑ Hashimoto thyroiditis

    ❑ Grave disease

    ❑ Drugs

    ❑ Subacute thyroiditis

    ❑ Thyroid cancer

    ❑ Infiltrative disease

    Diagnostic Approach

    Patients often present for evaluation of a “neck mass” that is a normal structure such as the hyoid, and they will insist that it is new or asymmetric.

    With thyroid enlargement, the mass will be low in the neck and extend across the midline. Occasionally, a prominent thyroid nodule will mimic a lymph node but is in an atypical location. The thyroid gland rises and falls with swallowing. The only other structure to do this is a thyroglossal duct cyst.

    In a multinodular goiter, a malignancy should be suspected when there is a dominant nodule or cervical adenopathy.

    » READ BOOK EXCERPT ONLINE »

    Source: Field Guide to Bedside Diagnosis, 2007

    Thyroid Nodule: Differential Overview
    (Field Guide to Bedside Diagnosis)

    ❑ Hashimoto thyroiditis

    ❑ Multinodular goiter

    ❑ Follicular adenoma

    ❑ Thyroid cyst

    ❑ Thyroid carcinoma

    ❑ Subacute thyroiditis

    Diagnostic Approach

    The major task of physical examination is the detection of nodules. A palpable nodule can be detected in 4% to 7% of adults, but these are present in approximately 50% on ultrasound. The history or physical examination should rarely dissuade one from proceeding to thyroid scan and/or fine needle aspiration.

    Approximately 5% of nodules are cancer. High-risk features include: rapid growth, a very firm nodule, fixation, vocal cord paralysis, enlarged regional lymph nodes, distant metastases, and family history of medullary cancer. Moderate risk features are: Age less than 20 years or greater than 60 years, history of neck irradiation (.100 cGy .15 years before), solitary nodule, diameter greater than 4 cm, and questionable fixation.

    A thyroid nodule in a hyperthyroid patient is virtually never malignant, but a prominent or hard nodule in a multinodular goiter must be evaluated for cancer.

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    Source: Field Guide to Bedside Diagnosis, 2007

    Involuntary Weight Loss: Differential Overview
    (Field Guide to Bedside Diagnosis)

    ❑ Diabetes

    ❑ Depression

    ❑ Inadequate intake

    ❑ Drugs

    ❑ Hyperthyroidism

    ❑ Occult cancer

    ❑ Low cardiac output

    ❑ Anorexia nervosa

    ❑ Malabsorption

    ❑ Chronic infection

    ❑ Adrenal insufficiency

    ❑ Emphysema

    Diagnostic Approach

    Cachexia is accelerated loss of lean body mass in the context of a chronic inflammatory response, caused by a combination of decreased intake (with decreased appetite) and increased metabolic rate. The cause of the weight loss will usually be evident, based on concurrent symptoms. If not, first document that weight loss has occurred by using prior records of measured weights or the discovery of loose-fitting clothes (tightening belt notches) or dentures. If the cause is not found on the first pass, document the weight and re-examine several weeks later.

    Weight loss in patients with congestive heart failure, cirrhosis, and
    uremia may be masked by fluid retention, but temporalis and limb wasting will be prominent. Weight loss in malignancy of more than 5% of body mass prior to treatment portends a poor prognosis.

    » READ BOOK EXCERPT ONLINE »

    Source: Field Guide to Bedside Diagnosis, 2007

    Thyroiditis: Diagnosis
    (Handbook of Diseases)

    Precise diagnosis depends on the type of thyroiditis:

    autoimmune: high titers of thyroglobulin and microsomal antibodies present in serum

    subacute granulomatous: elevated erythrocyte sedimentation rate, increased thyroid hormone levels, decreased thyroidal radioactive iodine uptake

    chronic infective and noninfective: varied findings, depending on underlying infection or other disease.

    » READ BOOK EXCERPT ONLINE »

    Source: Handbook of Diseases, 2003

    Thyroid cancer: Diagnosis
    (Handbook of Diseases)

    The first clue to thyroid cancer is usually an enlarged, palpable node in the thyroid gland, neck, lymph nodes of the neck, or vocal cords. A patient history of radiation therapy or a family history of thyroid cancer supports the diagnosis. However, tests must rule out nonmalignant thyroid enlargements, which are more common.

    Fine needle biopsy detects cancer cells.

    Thyroid scan differentiates between functional nodes (rarely malignant) and hypofunctional nodes (commonly malignant) by measuring how readily nodules trap isotopes compared with the rest of the thyroid gland. In thyroid cancer, the scintiscan shows a “cold,” nonfunctioning nodule.

    ❑ Other tests include computed tomography scan, ultrasonic scan, and serum calcitonin assay to diagnose medullary cancer. Calcitonin assay is a reliable clue to silent medullary carcinoma.

    » READ BOOK EXCERPT ONLINE »

    Source: Handbook of Diseases, 2003

    Thyroid enlargement: History
    (Signs & Symptoms: A 2-in-1 Reference for Nurses)

    The patient’s history commonly reveals the cause of thyroid enlargement. Important data includes a family history of thyroid disease, when the thyroid enlargement began, any previous irradiation of the thyroid or the neck, recent infections, and the use of thyroid replacement drugs.

    » READ BOOK EXCERPT ONLINE »

    Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007

    Weight gain, excessive: History
    (Signs & Symptoms: A 2-in-1 Reference for Nurses)

    Determine your patient’s previous patterns of weight gain and loss. Does he have a family history of obesity, thyroid disease, or diabetes mellitus? Assess his eating and activity patterns. Has his appetite increased? Does he exercise regularly or at all? Next, ask about associated symptoms. Has he experienced vision disturbances, hoarseness, paresthesia, or increased urination and thirst? Has he become impotent? If the patient is female, has she had menstrual irregularities or experienced weight gain during menstruation?

    Form an impression of the patient’s mental status. Is he anxious or depressed? Does he respond slowly? Is his memory poor? What medications is he using?

    CULTURAL CUE:Body weight is influenced by gender and race. For example, Black men tend to weigh less than White men and Black women tend to weigh more than White women of the same age. Socioeconomic status also affects weight gain. Individuals of lower socioeconomic status tend to have more pronounced obesity than those of middle-class or upper middle-class status.

    » READ BOOK EXCERPT ONLINE »

    Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007

    Weight loss, excessive: History
    (Signs & Symptoms: A 2-in-1 Reference for Nurses)

    Begin with a thorough diet history because weight loss almost always is caused by inadequate caloric intake. If the patient hasn’t been eating properly, try to determine why. Ask him about previous weight and if the recent loss was intentional. Be alert to lifestyle or occupational changes that may be a source of anxiety or depression. For example, has he gotten separated or divorced? Has he recently changed jobs?

    Inquire about recent changes in bowel habits, such as diarrhea or bulky, floating stools. Has the patient had nausea, vomiting, or abdominal pain, which may indicate a GI disorder? Has he had excessive thirst, excessive urination, or heat intolerance, which may signal an endocrine disorder? Take a careful drug history, noting especially use of diet pills and laxatives.

    » READ BOOK EXCERPT ONLINE »

    Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007

    Growth Deficiency: Weight and Height: Clinical Features and Diagnosis
    (The Diagnostic Approach to Symptoms and Signs in Pediatrics)

    Normal Variations

    Constitutional Delay of Growth and Maturation

  • Childrenwith constitutional delay in growth have normal birth weight andlength. They grow normally until 6–36 mos of age, whengrowth curves deviate from normal pattern. New growth curves parallelnormal curves but are in lower percentiles for age and gender.
  • With respect to chronologic age, skeletalage and height age are equally delayed. Although growth spurt isdelayed in puberty, final adult height is within normal range.
  • Genetic (Familial) Short Stature

  • Childrenwith genetic short stature follow growth curve ≤2 standard deviations frommean.
  • Skeletal age (bone age) is similarto chronologic age, but height age (chronologic age correspondingto fiftieth percentile for child's height) is delayed relativeto skeletal age.
  • There is family history of short stature.Normal acceleration of growth occurs during puberty.
  • Disorders Primarily Affecting Weight

    Intrauterine Growth Disturbance

  • Infantsare small for gestational age at birth. The earlier in pregnancythe fetus is affected and the more severe the insult, the more likelythat fetal growth will be seriously impaired.
  • Some more common causes include maternalundernutrition, toxemia of pregnancy, multiple pregnancy, and chronicdrug (heroin, cocaine) and alcohol use.
  • Undernutrition

  • Lack ofproper caloric intake is common cause of impaired weight gain. Ifsevere, linear growth is also affected. Common predisposing factorsare poverty, ignorance about proper feeding practices, disturbedparenting relationship including neglect and abuse, and other familypsychosocial problems. Sucking and swallowing disorders also maycontribute to decreased caloric intake (see Chap. 65, Sucking and Swallowing Difficulty).
  • Illness often results in food refusalor anorexia.
  • Marasmus and kwashiorkor are extremeforms of undernutrition.

  • Marasmus is extreme deficit of caloric intake,which also may be associated with protein deficiency.
  • Kwashiorkor is extreme deficit of proteinintake but also may include caloric undernutrition.
  • In many children, clinical picturesof marasmus and kwashiorkor merge.
  • Children with marasmus are cachectic,with severe growth failure.
  • Physical findings associated with kwashiorkorinclude sparse hair, edema, and sometimes ascites.
  • Both groups of children experienceapathy and lassitude.
  • With proper treatment, many improvebut some have psychomotor retardation, especially if severe undernutritionoccurred in early infancy.
  • Excessive Calorie Wasting

  • Persistentvomiting may produce calorie wasting and failure to gain weightand grow (see Chap. 55, Regurgitationand Vomiting). Chronic diarrhea including malabsorptionis another cause of calorie wasting (see Chap. 14, Diarrhea).
  • Wasting of calories can occur in poorlycontrolled diabetes mellitus by loss of carbohydrate through osmoticdiuresis.
  • Chronic Disease

    Many disorders can impair normal growth (seediscussion in other chapters):

  • Congenitalor acquired heart disease (chronic cardiac failure, cyanotic heartdisease)
  • Chronic lung disease (severe asthma,cystic fibrosis, bronchopulmonary dysplasia)
  • Gastrointestinal disease (inflammatorybowel disease, malabsorption disorders)
  • Chronic renal disease (chronic renalinsufficiency, renal tubular acidosis)
  • Chronic liver disease
  • Hematologic disease (severe chronicanemia)
  • Connective tissue diseases
  • Neoplastic disease (lymphoma, solidtumors)
  • Chronic infection (tuberculosis, HIV)
  • Neurologic disease (severe mental retardation,brain tumor, severe cerebral palsy, diencephalic syndrome, degenerativediseases)
  • Endocrine disorders (diabetes mellitus,adrenal insufficiency)
  • Metabolic disorders involving protein,carbohydrate, lipid, and calcium metabolism
  • Psychologic Disorders

    Psychosocial Deprivation

  • Can leadto impaired growth. Such children generally have parents who havefailed to establish proper nurturing relationship with them as infants.Predisposing factors include psychologic illness (depression, personalitydisorder) and lack of understanding of emotional and physical needsof their children. High incidence of neglect, abuse, divorce, separation,drug use, and alcoholism is found in these families.
  • Clinical manifestations are apathy,lassitude, lack of enthusiasm and interest in the surroundings,disturbed personal and social relationships, withdrawal and depression,voracious appetite when food is available, and delayed languageand intellectual development. Some children have transient growthhormone deficiency that resolves when placed in more nurturing andstimulating environments and provided with adequate caloric intake.
  • Anorexia Nervosa

  • Most commonlyaffects adolescent females. Intense fear of being fat underliesthis illness.
  • Usual clinical features are historyof extreme dieting and severe weight loss. Physical findings includecachexia, hypothermia, bradycardia, and lowered BP in otherwiseseemingly well person.
  • History and physical exam are diagnostic.
  • Depression

    1 hallmark is lack of appetite. These individualshave decreased caloric intake and often lose weight. See Chap. 57, School Underachievement and AcademicFailure.

    Psychosis

    Psychotic illness also can be associatedwith decreased caloric intake and often weight loss.

    Disorders Primarily Affecting Skeletal Growth (Height)

    Chromosomal Abnormalities

  • Many autosomalchromosome abnormalities lead to impaired intrauterine and postnatalgrowth. Most common is trisomy 21.
  • Abnormalities of the X chromosome alsocan cause decrease in linear growth, and most common is Turner syndrome(usual karyotype is 45,X).
  • Dysmorphic Syndromes

    Multiple malformation syndromes of unknowncause can impair growth. Many dysmorphic syndromes also may impairgrowth:

  • Aarskog
  • Bloom
  • Cockayne
  • de Lange
  • Donohue
  • Dubowitz
  • Ellis-van Creveld
  • Hallermann-Streiff
  • Johanson-Blizzard
  • Noonan
  • Robinow
  • Russell-Silver
  • Rubenstein-Taybi
  • Seckel
  • Smith-Lemli-Opitz
  • Williams
  • Bone and Cartilage Disorders (Osteochondrodysplasias)

  • Often canbe distinguished by clinical and radiologic features.
  • Many of these disorders are associatedwith disproportionate short stature involving decrease in lengthof limbs or trunk.
  • Disorders with short limbs that areidentifiable at birth:

  • Achondroplasia
  • Thanatophoric dysplasia
  • Chondrodysplasia puntata
  • Mesomelic dysplasia
  • Acromesomelic dysplasia
  • Asphyxiating thoracic dystrophy
  • Chondroectodermal dysplasia
  • Achondrogenesis
  • Campomelic dysplasia
  • Metatropic dysplasia
  • Spondyloepiphyseal dysplasia congenita
  • Cleidocranial dysplasia
  • Diastropic dysplasia
  • Metaphyseal dysplasias
  • Disorders with short limbs that areidentifiable later in life:

  • Hypochondroplasia
  • Pseudochondroplasia
  • Dyschondrosteosis
  • Acrodystostosis syndrome
  • Multiple epiphyseal dysplasias
  • Disorders characterized by individualswith short trunks:

  • Kniest dysplasia
  • Spondylometaphyseal dysplasia
  • Spondyloepiphyseal dysplasias
  • Definitive diagnosis can be made insome cases by identifying mutations in specific genes.
  • Endocrine Disorders

    Hypothyroidism, glucocorticoid excess, andgrowth hormone deficiency/insensitivity typically producedecrease in linear growth.

    Hypothyroidism

  • Characterizedby low serum thyroxine (T4) and high TSHlevels.
  • Despite low serum T4,newborns may have no physical signs of hypothyroidism. Clinicalfindings that usually appear 1–2 mos after birth includedry skin, constipation, lassitude, cold intolerance, bradycardia,and delayed relaxation phase of deep tendon reflexes. Impaired lineargrowth follows.
  • Decreased linear growth is also manifestationof acquired hypothyroidism. Most common cause in U.S. is Hashimotothyroiditis. Antithyroid globulin and antimicrosomal antibodiesare usually positive.
  • Glucocorticoid Excess

  • Pharmacologictherapy with corticosteroids, cortisol-secreting adrenal tumors,or hypersecretion of adrenocorticotropic hormone can impair lineargrowth.
  • Clinical manifestations include plumpfacies, obesity, easy bruising, hypertension, osteoporosis, diminishedmuscle mass, weakness, and impaired glucose tolerance.
  • See Chap.44, Obesity.
  • Growth Hormone Deficiency/Insensitivity

  • Growth hormonedeficiency is often idiopathic but may be suspected in childrenwith disorders affecting CNS: hypothalamic/pituitary malformations,head trauma, infections, tumors, or irradiation.
  • Growth hormone insensitivity is definedas phenotypic growth hormone deficiency but with normal or increasedserum growth hormone levels.
  • Diminished height is >3 standarddeviations from mean, and height velocity is <4.5 cm/yr.
  • In children with growth hormone deficiency,serum concentrations of insulin-like growth factor binding protein3 and insulin-like growth factor I are usually low. These peptidesmediate growth-promoting actions of growth hormone and can screenfor deficiency.
  • Growth hormone testing may be donewith 2 standard provocative tests, and pediatric endocrinologicconsultation is recommended to guide these investigations and theirinterpretation. MRI of hypothalamic and pituitary areas also shouldbe performed.
  • Diagnostic Approach

  • Determinewhether problem is primarily one of impaired weight gain, lineargrowth, or combination.
  • Complete history and physical examshould be performed.
  • Growth parameters (weight, height,head circumference) should be plotted on growth charts publishedby CDC (2001). All past measurements should also be plotted on thesegrowth curves.
  • Impaired Weight Gain or Weight Loss

  • Diagnosisof intrauterine growth disturbance can be made at birth or evensometimes before birth.
  • History and physical exam provide theclues for further investigation.
  • Presence of dysmorphic features andabnormal physical findings suggests chromosomal disorders, dysmorphicsyndromes, or multiple malformation syndromes of unknown cause.
  • Chromosomal karyotype with bandingtechniques should be performed with suspected chromosomal disorder,with unknown constellation of dysmorphic features, or with majorand minor malformations.
  • Presence of specific major malformation(e.g., hydrocephalus) determines which further diagnostic testsneed to be performed.
  • If problem is primarily weight gain,history can estimate daily caloric intake. This and other historicinformation along with physical exam is diagnostic in many casesincluding psychologic disturbances.
  • Inadequate caloric intake is most commoncause of failure to gain weight in otherwise normal child. Withproper counseling and follow-up, mild cases may be treated successfullywithout hospitalization. If child is ill or lack of weight gainis more than mild or psychosocial problems are serious, he or shecan be admitted to the hospital to monitor caloric intake and weightgain, gain more insight and understanding about parents and family,and educate parents about proper nutrition.
  • Excessive caloric wasting from persistentdiarrhea, polyuria, or vomiting can impair adequate weight gainand also cause weight loss. See Chap.14, Diarrhea; Chap.47, Polyuria and Polydipsia; and Chap. 55, Regurgitation and Vomiting,respectively.
  • Best screening tests for chronic diseaseare history and physical exam. Tests that can help pinpoint theinvolved organ system include CBC with differential; stool guaiac;serum electrolytes, glucose, creatinine, calcium, and phosphorus;blood urea nitrogen; UA; urine culture; erythrocyte sedimentationrate; liver function tests; chest radiography; sweat test; and endomesial antibodies.
  • Impaired Skeletal Growth (Height)

  • Same generaldiagnostic approach described for impaired weight gain should befollowed in cases of impaired linear growth.
  • Weight, height, and head circumferencemeasurements should be recorded on standard growth charts. Lengthis usually measured from birth until 18 mos of age, whereas heightis commonly measured after this age.
  • Height velocity charts of Tanner andDavies (1985) can be used to calculate height velocity in cm/yr.
  • Most common causes of short statureinclude genetic (familial) short stature, constitutional delay,chronic disease of any organ system, and psychosocial deprivation.
  • In general, diagnostic studies arelimited to short children who are growing at subnormal rate. Ifgrowth rate is normal, significant problem is unlikely.
  • If history and physical exam do notidentify cause of abnormal growth, certain tests should be considered:CBC with differential; UA including pH and specific gravity; urineculture; erythrocyte sedimentation rate; serum electrolytes, glucose,and creatinine; blood urea nitrogen; T4 andTSH; insulin-like growth factor-binding protein 3 and insulin-likegrowth factor I; and bone age.
  • Bone age measurement provides assessmentof skeletal maturation as index of biologic age. Can be determinedby using knee radiograph in infants <3 mos of age and lefthand and wrist in those >3 mos of age and should be performedwith suspected growth hormone deficiency.
  • Other tests depend on results of theabove findings and suspected diagnosis.
  • When disproportionate growth is clinicallyobserved, ratio of upper to lower segment may be useful. Lower segmentis measured from pubis to bottom of feet, and this measurement issubtracted from height to give upper segment length. Normal uppersegment:lower segment ratio is 1.7:1 at birth and decreases untilabout age 10 yrs, when it is 1, which approximates normal adultvalue. Disproportionate short limbs or trunk are noted with manyof the osteochondrodysplasias.
  • Genetic growth potential can be estimatedby the following procedure as noted by Rudolph (1996). Based ongenetic factors alone, predicted adult height should fall within5 cm above or below calculated midparental height. Midparental heightfor girls is calculated as follows: [(father'sheight - 13 cm) + (mother's height)] dividedby 2. Midparental height for boys is calculated as follows: [(mother'sheight + 13 cm) + (father's height)] dividedby 2.
  • >>

    » READ BOOK EXCERPT ONLINE »

    Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

    Thyroid enlargement: History and physical examination
    (Nursing: Interpreting Signs and Symptoms)

    The patient's history commonly reveals the cause of thyroid enlargement. Important data includes a family history of thyroid disease, onset of thyroid enlargement, any previous irradiation of the thyroid or the neck, recent infections, and the use of thyroid replacement drugs.

    Begin the physical examination by inspecting the patient's trachea for midline deviation. Although you can usually see the enlarged gland, you should always palpate it. To palpate the thyroid gland, you'll need to stand behind the patient. Give the patient a cup of water, and have him extend his neck slightly. Place the fingers of both hands on the patient's neck, just below the cricoid cartilage and just lateral to the trachea. Tell the patient to take a sip of water and swallow. The thyroid gland should rise as he swallows. Use your fingers to palpate laterally and downward to feel the whole thyroid gland. Palpate over the midline to feel the isthmus of the thyroid.

    During palpation, be sure to note the size, shape, and consistency of the gland, and the presence or absence of nodules. Using the bell of a stethoscope, listen over the lateral lobes for a bruit. The bruit is often continuous.

    » READ BOOK EXCERPT ONLINE »

    Source: Nursing: Interpreting Signs and Symptoms, 2007

    Weight gain, excessive: History and physical examination
    (Nursing: Interpreting Signs and Symptoms)

    Determine your patient's previous patterns of weight gain and loss. Does he have a family history of obesity, thyroid disease, or diabetes mellitus? Assess his eating and activity patterns. Has his appetite increased? Does he exercise regularly or at all? Ask about associated symptoms. Has the patient experienced vision disturbances, hoarseness, paresthesia, or increased urination and thirst? Has he become impotent? If the patient is female, has she had menstrual irregularities or experienced weight gain during menstruation? Is she menopausal or postmenopausal?

    Form an impression of the patient's mental status. Is he anxious or depressed? Does he respond slowly? Is his memory poor? What medications is he taking?

    During your physical examination, measure skin-fold thickness to estimate fat reserves. (See Evaluating nutritional status, pages 644 and 645.) Note fat distribution and the presence of localized or generalized edema and overall nutritional status. Inspect for other abnormalities, such as abnormal body hair distribution or hair loss and dry skin. Take and record the patient's vital signs.

    » READ BOOK EXCERPT ONLINE »

    Source: Nursing: Interpreting Signs and Symptoms, 2007

    Low birth weight: History and physical examination
    (Nursing: Interpreting Signs and Symptoms)

    As soon as possible, evaluate the neonate's neuromuscular and physical maturity to determine gestational age. (See Ballard Scale for calculating gestational age.) Follow with a routine neonatal examination.

    » READ BOOK EXCERPT ONLINE »

    Source: Nursing: Interpreting Signs and Symptoms, 2007

    Weight loss, excessive: History and physical examination
    (Nursing: Interpreting Signs and Symptoms)

    Begin with a thorough diet history because weight loss is almost always caused by inadequate caloric intake. If the patient hasn't been eating properly, try to determine why. Ask him about previous weight and whether the recent loss was intentional. Determine how long the weight loss has been taking place. Be alert to lifestyle or occupational changes that may be a source of anxiety or depression. Has the patient recently experienced a loss?

    Inquire about recent changes in bowel habits, such as diarrhea or bulky, floating stools. Has the patient had nausea, vomiting, or abdominal pain, which may indicate a GI disorder? Has he had excessive thirst, excessive urination, or heat intolerance, which may signal an endocrine disorder? Has he been experiencing other pain? If so, ask about the location of the pain and how long he has had it. Take a careful drug history, noting especially use of diet pills and laxatives.

    Carefully check the patient's height and weight and ask about his previous weight. Take his vital signs and note his general appearance: Is he well nourished? Do his clothes fit? Is muscle wasting evident? Ask about exact weight changes (with approximate dates).

    Examine the patient's skin for turgor and abnormal pigmentation, especially around the joints. Does he have pallor or jaundice? Examine his mouth, including the condition of his teeth or dentures. Look for signs of infection or irritation on the roof of the mouth and note hyperpigmentation of the buccal mucosa. Check the patient's eyes for exophthalmos and his neck for swelling; evaluate his lungs for adventitious sounds. Inspect his abdomen for signs of wasting, and palpate for masses, tenderness, and an enlarged liver.

    Conventional laboratory and radiologic investigations such as complete blood count, serum albumin levels, urinalysis, chest X-ray, and upper GI series usually reveal the cause. Almost all physical causes are clinically evident during the initial evaluation. Cancer, GI disorders, and depression are the most common pathologic causes.

    » READ BOOK EXCERPT ONLINE »

    Source: Nursing: Interpreting Signs and Symptoms, 2007

    WEIGHT LOSS: Approach to the Diagnosis
    (Differential Diagnosis in Primary Care)

    Weight loss rarely occurs as the only symptom. When it seems to be the only symptom, there is almost invariably a psychiatric disorder such as depression or anorexia nervosa to explain it. More often the diagnosis of weight loss can be made by the other associated symptoms. For example, weight loss with a good appetite, polyuria, and polydipsia should point to hyperthyroidism and diabetes mellitus. Weight loss with weakness and polydipsia but no increase of appetite points to diabetes insipidus. Weight loss, weakness, and loss of appetite suggest the possibility of a malignancy, chronic infectious disease, or endocrine disorder. Weight loss with significant local or generalized lymphadenopathy suggests chronic leukemia, lymphoma, sarcoidosis, or a chronic infectious disease process. Weight loss with hyperpigmentation of the skin suggests Addison disease or hemochromatosis. Weight loss with significant pallor of the skin and mucus membranes suggests a diagnosis of anemia, malabsorption syndrome, and malignancy. Weight loss with jaundice suggests alcoholic cirrhosis, chronic hepatitis, primary or metastatic neoplasm of the liver, or biliary cirrhosis. The initial workup of weight loss should include a CBC, sedimentation rate, chemistry panel, thyroid profile, urinalysis, stool test for occult blood, chest x-ray, and flat plate of the abdomen. If there is fever, the workup of this symptom can be pursued . Other tests may be ordered depending on which disease is suspected. Before ordering a battery of tests, it may be wise to get a psychiatric consult and make sure there is not a “supratentorial” cause for the problem.

    » READ BOOK EXCERPT ONLINE »

    Source: Differential Diagnosis in Primary Care, 2007


     » Next page: Signs of Thyroid disorders

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