The evaluation of patients with suspected Cushing’s syndrome (CS) is complex and expensive, and the diagnosis is often a challenge for clinicians. Most patients initially suspected of having CS will not have this condition, and therefore efficient screening procedures are needed to identify the few patients who will need additional investigation in specialized centers.
Diagnosis
Diagnosis of Gilbert’s Syndrome
Gilbert syndrome is a genetic condition and this autosomal recessive condition is characterized by intermittent jaundice in the absence of hemolysis or liver disease.
The hyperbilirubinemia is mild. By definition, bilirubin levels in Gilbert syndrome are lower than 6 mg/dL, though most patients exhibit levels lower than 3 mg/dL. Gilbert syndrome is the result of a genetic mutation in the promoter region of a gene for the enzyme UGT1A (bilirubin–uridine diphosphate glucuronyl transferase).
Criteria for the Diagnosis of Borderline Personality Disorder (BPD)
Borderline personality disorder is a chronic psychiatric disorder characterized by marked impulsivity, instability of mood and interpersonal relationships, and suicidal behaviour that can complicate medical care. Identifying this diagnosis is important for treatment planning.
Diagnosis of Goodpasture’s Syndrome
Goodpasture’s syndrome is a rare disorder characterized by pulmonary hemorrhage, glomerulonephritis, and antiglomerular basement membrane antibodies.
Color Doppler Ultrasound Diagnosis of Varicocele
In accordance with Sarteschi, varicocele can be divided into five grades according to the characteristics of the reflux and its length, and to changes during Valsalva’s manoeuvre.
Diagnosis of Autoimmune Hemolytic Anemia (AIHA)
Two criteria must be diagnose AIHA: serologic evidence of an autoantibody and clinical or laboratory evidence of hemolysis. Serologic evidence of an autoantibody is provided by positive autocontrol and direct antiglobulin test (DAT, direct Coombs´ test) results and subsequent identification of an autoantibody in the RBC eluate and possibly the serum. Serum reactivity with autologous RBCs generally indicates the presence of an autoantibody, but it does not exclude the presence of an autoantibody.
Guidelines for Diagnosis of Moyamoya Disease
Moyamoya disease is a cerebrovascular condition predisposing affected patients to stroke in association with progressive stenosis of the intracranial internal carotid arteries and their proximal branches.
Electrocardiographic Diagnosis of Left Ventricular Hypertrophy (LVH)
Sokolow-Lyon index:
There are two criteria with these widely used indices:
* Sum of S wave in V1 and R wave in V5 or V6 >/= 3.5 mV (35 mm)
and/or
* R wave in aVL >/= 1.1 mV (11 mm)
Criteria for Diagnosis of Still’s Disease
Yamaguchi criteria for classification of adult Still’s disease
Presence of 5 or more criteria, of which at least 2 are Major (96% sensitivity; 92% specificity)
Yamaguchi criteria for classification of adult Still’s disease
Presence of 5 or more criteria, of which at least 2 are Major (96% sensitivity; 92% specificity)
Major Criteria
- Temperature of >39°C for >1 wk
- Leukocytosis >10,000/mm3 with >80% PMNs
- Typical rash
- Arthralgias >2 wk
Diagnosis, Clinical Characteristics, and Treatment of Sarcoidosis
Diagnosis
- Diagnosis of sarcoidosis is firm when chest radiographic evidence is accompanied by compatible clinical features and noncaseating granulomas on biopsy, with all other causes of granulomas ruled out.
- Biopsy is indicated for all patients presumed to have sarcoidosis, except those with Löfgren’s syndrome.