Diagnosis of DiGeorge's syndrome
DiGeorge's syndrome Diagnosis: Book Excerpts
Diagnostic Tests for DiGeorge's syndrome: Online Medical Books
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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.
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Source: Handbook of Signs & Symptoms (Third Edition), 2006
DiGeorge syndrome:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Immediate diagnosis is difficult unless the infant has typical facial anomalies — normally the first clues to the disorder. A definitive diagnosis depends on successful treatment of hypocalcemia and other life-threatening birth defects during the first few weeks of life. Such diagnosis rests on proof of decreased or absent T lymphocytes (sheep cell test, lymphopenia), partial B-cell immunodeficiency, and of an absent thymus (chest X-ray). Immunoglobulin assays are useless because antibodies present are usually from maternal circulation.
Additional tests showing low serum calcium level, elevated serum phosphorus level, and missing parathyroid hormone confirm hypoparathyroidism.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Pharyngitis:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Physical examination of the pharynx reveals generalized redness and inflammation of the posterior wall, and red, edematous mucous membranes studded with white or yellow follicles. Exudate is usually confined to the lymphoid areas of the throat, sparing the tonsillar pillars. Bacterial pharyngitis usually produces a large amount of exudate.
A throat culture may be performed to identify bacterial organisms that may be the cause of the inflammation.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
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:
History
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
Is there any history of seasonal allergies, trauma, malignancy, radiation therapy, inhalation, ingestion, thyroid dysfunction, or significant psychiatric illness? If so, then the possibility of a noninfectious cause of ST exists. How severe is the ST and how abrupt was the onset? Is there accompanying rhinitis, nasal congestion, cough, malaise, myalgias, rash, diarrhea, conjunctivitis, fever, tender or swollen “neck glands,” pain on swallowing, headache, nausea, vomiting, or abdominal pain? Classically, GABHS pharyngitis is severe and of acute ( <1 day) onset and accompanied by fever (temperature >101°F), painful swallowing, tender anterior cervical adenopathy and myalgias, but not cough or rhinitis. Headache, nausea, vomiting, and abdominal pain may be seen as well, especially in children. Conversely, the gradual onset of mild ST accompanied by rhinorrhea, cough, hoarseness, conjunctivitis, or diarrhea in an afebrile patient speaks strongly for a viral cause. Despite these broad generalizations, classic symptom complexes alone are neither sensitive nor specific enough to rely on for judging the need for antibacterial treatment (2–5). For example, the symptoms most likely to predict the presence of GABHS infection—fever and lack of cough—have sensitivities of 0.58 to 0.72 and specificities of only 0.43 to 0.67 (2). Additionally, the presence of a positive throat culture in the prior year or recent exposure to GABHS has high specificity, 0.90, but low sensitivity, 0.23 (2,3).
Physical examination
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.
>
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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
Pharyngitis:
Diagnosis
(Handbook of Diseases)
Physical examination of the pharynx reveals generalized redness and inflammation of the posterior wall and red, edematous mucous membranes studded with white or yellow follicles. Exudate is usually confined to the lymphoid areas of the throat, sparing the tonsillar pillars. Bacterial pharyngitis usually produces a large amount of exudate.
A throat culture may be performed to identify bacterial organisms that may be the cause of the inflammation.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
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
Pharyngitis:
Pharyngitis - DIAGNOSIS
(The 5-Minute Pediatric Consult)
Caution: Diagnostic pitfalls:
- Swabbing the throat from anywhere other than the tonsils and posterior pharyngeal wall
- Even experienced clinicians may overestimate the diagnosis of GAS pharyngitis by up to 80%, using clinical grounds alone.
- GAS pharyngitis may go unrecognized in ~20% of children who have mild symptoms if cultures are not performed.
- Failure to use throat culture to rule out streptococcal pharyngitis when rapid test is negative
- Failure to request identification of other organisms in the appropriate clinical setting (e.g., N. gonorrhoeae or A. hemolyticum)
- Reliance on Monospot test in young children (<5 years of age) because of a high incidence of false negatives (consider EBV serology instead)
- Positive throat culture or RADT in patients with viral pharyngitis may represent streptococcal carrier state. Diagnostic tests for GAS should be used in patients suspected of having streptococcal disease on clinical and epidemiologic grounds, not on all patients who complain of a sore throat.
>
» READ BOOK EXCERPT ONLINE »
Source: The 5-Minute Pediatric Consult, 2008
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