Diagnostic Tests for Mitochondrial diseases
Mitochondrial diseases Tests: Book Excerpts
Mitochondrial diseases Diagnosis: Book Excerpts
Diagnostic Tests for Mitochondrial diseases: Online Medical Books
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RESPIRATION ABNORMALITIES:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
The basic workup includes a CBC, sedimentation rate, urinalysis, chemistry panel, EKG, chest x-ray, urine drug screen, blood alcohol level, arterial blood gases, and pulmonary function tests. If there is fever, blood cultures, febrile agglutinins, and tuberculin and other skin tests may be ordered. If there is coma, further diagnostic workup may be found on
page 84
. If there is dyspnea, further diagnostic workup may be found on
page 131
.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
PUPIL ABNORMALITIES:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
Patients with bilateral dilated or constricted pupils should have a urine drug screen and possibly a blood test for alcohol level. If there is fever or a history of trauma with dilated or constricted pupils or other pupillary abnormalities, a neurologist or neurosurgeon should be consulted immediately before ordering expensive diagnostic tests.
Primary eye conditions can be excluded by tonometry, slit lamp examination, or ophthalmology consultation. Intracranial neoplasms and aneurysms must be excluded by CT scans, MRIs, and possibly angiography. A spinal tap will help diagnose central nervous system lues or multiple sclerosis. VEP studies will help diagnose multiple sclerosis. The workup for Horner's syndrome can be found on
page 227
.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
Pap Smear Abnormality:
Physical examination
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
The cervix usually appears normal to the naked eye. Gross cervical abnormalities should prompt further evaluation. When present, discharge should be gently removed prior to the pap smear. Tests for sexually transmitted diseases, when indicated, should be obtained after the pap smear. If the cervix appears normal, vaginitis can be treated and the smear obtained after resolution of the discharge (5).
Testing
Evaluation of an abnormal pap smear may involve further testing or an attempt to diagnose and establish the extent of the lesion.
A. Repeat pap smear. Low grade lesions can be followed with serial testing. Although false–negative finding rates of 20% to 45% have been reported, rates as low as 10% have been reported, using conization specimens as the reference (1). Repeat testing at frequent intervals minimizes this risk.
B. Cervicography. Photographic evaluation of the cervix may have a sensitivity comparable to a pap smear, but it has much lower specificity (50%). A 10% to 15% rate of unsatisfactory cervicograms further limits the utility of this test (1). Current recommendations limit its use to experienced physicians who understand its limitations (2).
C. Human papillomavirus typing. HPV types 16, 18, 45, and 56 are strongly correlated with cervical cancer. Screening for HPV and HPV typing have been studied to identify high risk individuals. The positive predictive value of HPV screening is less than 10% (1), limiting its clinical usefulness. The role of typing as an adjunctive triage strategy remains under investigation.
Diagnostic assessment
A. Reactive changes associated with inflammation. Infectious causes (e.g., Candida sp., Trichomonas vaginalis, Gardnerella vaginalis, herpes simplex virus, or Chlamydia trachomatis) are common. The pathologist may be able to identify an offending organism or typical cytologic changes. However, the clinician must provide clinical correlation regarding symptoms and the need for treatment. No data support empiric therapy. The pap smear should be repeated in 3 to 6 months, regardless of cause or treatment (5).
B. Atypical squamous cells of uncertain significance (ASCUS). Multiple options are currently recommended based on the clinical setting and the patient’s risk. In a reliable patient, ASCUS can be followed with repeat cytology every 4 to 6 months for 2 years or until three consecutive, adequate, and negative smears are obtained. Recurrent ASCUS should be evaluated with colposcopy and biopsy (2,5). If the patient is postmenopausal or inflammation is present, a repeat pap smear after estrogen vaginal cream or appropriate antibiotic therapy can be considered (2). Close communication with the cytopathologist can clarify whether this process favors reactive or neoplastic changes and the relative incidence of neoplasia. ASCUS favoring a neoplastic process should be managed as a low grade squamous intraepithelial lesion (2).
C. Low grade squamous intraepithelial lesion frequently reverts to normal. In the appropriate clinical setting with a reliable patient, cytology every 4 to 6 months until three consecutive, adequate, and negative smears is appropriate. However, because of the high rate of false–negative cytology findings, further evaluation with colposcopy, including biopsy and endocervical curettage (ECC) (2,5), is appropriate. Unreliable or high risk patients should undergo more aggressive evaluation. After the entire lesion and transformation zone are visualized, the histologically confirmed lesion can be ablated, excised, or observed (5).
D. High grade squamous intraepithelial lesion. This category includes cancer in situ and moderate to severe dysplasia. Evaluation should include colposcopy, biopsy, and ECC. After identifying the entire lesion, excise or ablate the entire transformation zone (2,5).
E. Cancer. Cytology suggestive of invasive cancer should be evaluated with biopsy and referral to a physician experienced in the management of this disease.
F. Atypical glandular cells. Atypical glandular cells of undetermined significance (AGUS, AGCUS) should be subclassified according to favoring reactive process or neoplasia and by origin (endocervical or endometrial) (2). Endocervical atypia can be followed with colposcopy and ECC (5). If a neoplastic process is suspected, many believe that the best evaluation is diagnostic conization (2,5). Endometrial atypia should be evaluated by biopsy, hysteroscopy, or dilation and curretage (2,5).
References
1. US Preventive Services Task Force. Screening for cervical cancer. Guide to clinical preventive services, 2nd ed. Baltimore: Williams & Wilkins, 1996:105–117.
2. Kurman, RJ, Henson, DE, Herbst, AL, et al. Interim guidelines for management of abnormal cervical cytology. JAMA 1994;271:1866–1869.
3. Melnikow J, Nuovo J, Willan AR, et al. Natural history of cervical squamous intraepithelial lesions: a metaanalysis. Obstet Gynecol 1998;92:727–733.
4. Evaluation of cervical cytology. Summary, evidence report/technology assessment. No. 5. Rockville, MD: AHCPR, January 1999; http://www.ahcpr.gov/clinic/cervsumm.htm
5. American College of Obstetricians and Gynecologists. Cervical cytology: evaluation and management of abnormalities. Technical Bulletin No. 183. Washington, DC: American College of Obstetricians and Gynecologists, 1993.
» READ BOOK EXCERPT ONLINE »
Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
Prostate Abnormality:
Diagnostic Approach
(Field Guide to Bedside Diagnosis)
History helps in risk stratification: Men with a first degree relative with prostate cancer have a 2 to 3 fold increased incidence of prostate cancer. With 2 first degree relatives, this increases 5 to 8 fold.
The normal prostate is heart-shaped with a median raphe and a mass of 20 to 25 g. Carefully examine the posterior surfaces of the lateral lobes because this is where most prostate cancer originates. In screening for prostate cancer, digital rectal examination (DRE) looking for nodules, induration, or asymmetry may help to calibrate PSA values in the “gray zone” of 4 to 10. For example, a large gland may offer an explanation for a mildly elevated PSA, but a small gland or one with induration or asymmetry should heighten suspicion of prostate cancer. The positive predictive value for prostate cancer of an abnormal finding on DRE is 15% to 30%, increasing odds 1.5- to 2-fold. Because of low sensitivity, the value of a negative DRE to rule out prostate cancer is low. Men with an abnormality on DRE and a PSA ,4 still have a probability of prostate cancer of 12%, so biopsy is usually recommended. Examination followed by biopsy of any prostate nodule is the appropriate tactic because the clinical examination alone is not accurate enough in distinguishing benign causes from adenocarcinoma.
New suspicious findings on DRE in a patient with an initial negative baseline helps to select for aggressive tumors. Cancer found based on the first DRE has a 5 year prostate cancer mortality of 3% and 10 year mortality of 14%. Cancer found on a subsequent DRE has mortalities of 19% and 43% respectively.
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Source: Field Guide to Bedside Diagnosis, 2007
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