Diagnostic Tests for Microcephalic osteodysplastic primordial dwarfism, type 1
Microcephalic osteodysplastic primordial dwarfism, type 1 Tests: Book Excerpts
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Microcephalic osteodysplastic primordial dwarfism, type 1 Diagnosis: Book Excerpts
Diagnostic Tests for Microcephalic osteodysplastic primordial dwarfism, type 1: Online Medical Books
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DWARFISM:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones.
If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
WEIGHT LOSS:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
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.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
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.
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Source: Handbook of Signs & Symptoms (Third 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.
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Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Weight Loss:
Basic physical examination
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
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.
Testing
A. Basic laboratory tests. Debate continues regarding the most useful and cost-effective laboratory testing for involuntary weight loss. A structured approach is best (1–5). Useful tests include:
1. Complete blood count, thyrotropin assay, urinalysis, and fecal occult blood testing.
2. Comprehensive chemistry panel including albumin, transaminases, blood urea nitrogen, creatinine, and electrolytes—calcium, magnesium, phosphorus, sodium, and potassium.
3. Chest radiograph is often useful but not required (1).
B. Comprehensive analysis. Further testing should be done only as directed by the initial findings. Careful observation and follow-up are superior management strategies to undirected diagnostic testing (1–5).
1. When indicated, upper gastrointestinal radiographs, endoscopy, and colonoscopy are the most useful second-line tests (3).
2. National Cancer Institute or United States Preventive Services Task Force age-specific screening guidelines should be considered and brought up to date for the patient. These can be accessed on the internet through the National Library of Medicine (http://www.nlm.nih.gov).
3. Computed tomography and other expensive investigations are seldom beneficial in the absence of a specific (often guideline-based) indication (3,4).
Diagnostic assessment.
The integration of history, examination, and laboratory data usually reveals the cause for involuntary weight loss.
A. Cancer, including gastrointestinal malignancies, accounts for 16% to 36% of cases, and other gastrointestinal diseases account for another 14% to 23% (1,3).
B. If the initial steps are not conclusive, the best approach is careful observation. Follow-up examinations and testing should be done monthly for 6 months. If a physical cause exists, it will almost always be found within this time (1).
C. If an organic cause is present, this simple approach will find it more than 75% of the time (1–3).
D. If an organic cause is not identified in 6 months, one is unlikely to be found (1–3). These undifferentiated patients, however, do well and have an excellent prognosis, assuming they do not have continued and progressive weight loss (1).
E. Malignancy is a significant cause of weight loss; however, a truly occult malignancy is rare and an exhaustive search for one is not supported by the literature (1–5).
References
1. Marton KI, Sox Jr HC, Krupp JR. Involuntary weight loss: diagnostic and prognostic significance. Ann Intern Med 1981;95:568–574.
2. Rabinovitz M, Pitlik SD, Leifer M, et al. Unintentional weight loss. A retrospective analysis of 154 cases. Arch Intern Med 1986;146:186–187.
3. Thompson MP, Morris LK. Unexplained weight loss in the ambulatory elderly. J Am Geriatr Soc 1991;39:497–500.
4. Wise GR, Craig D. Evaluation of involuntary weight loss. Where do you start? Postgrad Med 1994;95:143–146, 149–150.
5. Reife CM. Involuntary weight loss. Med Clin North Am 1995;79(2):299–313.
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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
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
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