Diagnostic Tests for DiGeorge's syndrome
DiGeorge's syndrome Tests: Book Excerpts
DiGeorge's syndrome Diagnosis: Book Excerpts
Diagnostic Tests for DiGeorge's syndrome: Online Medical Books
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for more information about the diagnostic tests for DiGeorge's syndrome.
Gag reflex abnormalities [Pharyngeal reflex abnormalities]:
History and physical examination
(Handbook of Signs & Symptoms (Third Edition))
Ask the patient (or a family member if the patient can’t communicate) about the onset and duration of swallowing difficulties, if any. Are liquids more difficult to swallow than solids? Is swallowing more difficult at certain times of the day (as occurs in the bulbar palsy associated with myasthenia gravis)? If the patient also has trouble chewing, suspect more widespread neurologic involvement because chewing involves different CNs.
Explore the patient’s medical history for vascular and degenerative disorders. Then assess his respiratory status for evidence of aspiration, and perform a neurologic examination.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Signs & Symptoms (Third Edition), 2006
Gag reflex abnormalities [Pharyngeal reflex abnormalities]:
History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))
Ask the patient (or a family member if the patient can’t communicate) about the onset and duration of swallowing difficulties, if any. Are liquids more difficult to swallow than solids? Is swallowing more difficult at certain times of the day (as occurs in the bulbar palsy associated with myasthenia gravis)? If the patient also has trouble chewing, suspect more widespread neurologic involvement because chewing involves different cranial nerves.
Explore the patient’s medical history for vascular and degenerative disorders. Then assess his respiratory status for evidence of aspiration, and perform a neurologic examination.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Pharyngitis:
Physical examination
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
A. Focused physical examination (PE). This should include assessing vital signs (especially temperature) and examining the head, eyes, ears, nose, throat, neck, and skin. Findings classically associated with GABHS infection include palatal petechiae, intense (“beefy red”) tonsillopharyngeal erythema with exudates, tender anterior cervical adenopathy, and a scarlatiniform rash (Chapter 13.5). Conversely, absence of these features together with the presence of rhinitis, hoarseness, conjunctivitis, stomatitis, discrete ulcerative lesions, or a typical viral exanthem point toward a viral cause. In IM, the classic GABHS features are often combined with posterior cervical or generalized lymphadenopathy and hepatosplenomegaly. However, once again none of these physical findings in and of themselves have sufficiently high sensitivity and specificity to rely on for accurate diagnosis (2–4).
B. Additional PE. Abdominal examination is dictated by either gastrointestinal symptoms or the presence of severe fatigue with posterior cervical adenopathy (suggesting IM). Cough or fever should lead to pulmonary examination. Cardiac examination is important for toxic appearing patients.
Testing
A. Clinical laboratory tests. Because even experienced clinicians are unable to use the clinical presentation of pharyngitis to reliably predict the causative agent (because of inadequate sensitivity and specificity), accurate diagnosis should be based on results of a throat culture (TC) or rapid streptococcal antigen detection test (RSADT). In an untreated patient with streptococcal pharyngitis, a properly obtained (vigorously swabbing both tonsils and posterior pharynx) TC is almost always positive (sensitivity 90% to 95%) (3,4). Unfortunately, the culture does not reliably distinguish between acute GABHS infection and streptococcal carriers with concomitant viral infection. Streptococcal pharyngeal carriage, unfortunately, is a common finding particularly in school-aged children (20% to 30%) (2,3,5). A negative TC does permit the withholding of antimicrobial therapy (i.e., specificity = 0.99) (3–5).
Although methods vary, RSADTs do have high degrees of specificity (92% to 95%) (3,4). Unfortunately, their sensitivity in routine clinical practice is unacceptably low (60% to 85%) (3,4). Therefore, a negative antigen test does not exclude GABHS and a back-up throat culture must be obtained. Also, RSADTs suffer the same limitation as TCs because of the presence of carrier states.
Streptococcal antibody titers are of no immediate value in the diagnosis of acute GABHS pharyngitis.
If IM is suspected, a complete blood count and heterophil antibody testing can confirm the diagnosis reliably if the patient is in the second week of illness.
B. Imaging studies. None are usually necessary unless a serious suppurative sequela is suspected (e.g., retropharyngeal abscess).
Diagnostic assessment
Researchers have tried to incorporate clinical and epidemiologic features of acute pharyngitis into scoring systems that attempt to predict the probability of GABHS (2–5). Unfortunately, even the best of these predict positive TCs less than 70% of the time. Most scoring systems have incorporated the cardinal features such as fever, tender cervical adenopathy, tonsillar exudates, and lack of cough or rhinitis. Patients, especially adults, who have none of these features have a very low (<5%) probability of GABHS and no further testing is advised. For most other patients, who have varying numbers of cardinal features, the probability of GABHS is either intermediate (10% to 30%) or high (40% to 60%) and further testing is necessary, usually first with a RSADT and, if negative, a follow-up TC. Only in patients, usually children, with all the cardinal features plus a history of recent GABHS exposure or culture-proved recurrent streptococcal illness, can further testing be eliminated and empiric therapy begun.
References
1. National Ambulatory Medical Care Survey. Hyattsville, MD: National Center for Health Statistics, 1993.
2. Ebell MH. Sore throat. In: Sloane PD, Slatt LM, Curtis P, et al., eds. Essentials of family medicine, 3rd ed. Baltimore: Williams & Wilkins, 1998:632–634.
3. Bisno AL, Gerber MA, Gwaltney JM, Kaplan EL, Schwartz RH. Diagnosis and management of group A Streptococcal pharyngitis: a practice guideline—Infectious Disease Society of America. Clin Infect Dis 1997;25:574–583.
4. Komaroff AL. Sore throat and acute infectious mononucleosis in adult patients. In: Black ER, Bordley DR, Tape TG, et al., eds. Diagnostic strategies for common medical problems, 2nd ed. Philadelphia: American College of Physicians, 1999:229–242.
5. Perkins A. An approach to diagnosing the acute sore throat. Am Fam Physician 1997;55:131–138.>>>>
» READ BOOK EXCERPT ONLINE »
Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
Gag reflex abnormalities [Pharyngeal reflex abnormalities]:
History and physical examination
(Nursing: Interpreting Signs and Symptoms)
Ask the patient (or a family member if the patient can't communicate) about the onset and duration of swallowing difficulties, if any. Are liquids more difficult to swallow than solids? Is swallowing more difficult at certain times of the day (as occurs in the bulbar palsy associated with myasthenia gravis)? If the patient also has trouble chewing, suspect more widespread neurologic involvement because chewing involves different CNs.
Explore the patient's medical history for vascular and degenerative disorders. Then assess his respiratory status for evidence of aspiration, and perform a neurologic examination.
» READ BOOK EXCERPT ONLINE »
Source: Nursing: Interpreting Signs and Symptoms, 2007
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