Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2).
Continue reading “Revised Diagnostic Criteria for Rett Syndrome (RTT)”
There are numerous potential clinical uses of the 12-lead ECG. The ECG may reflect changes associated with primary or secondary myocardial processes (e.g., those associated with coronary artery disease, hypertension, cardiomyopathy, or infiltrative disorders), metabolic and electrolyte abnormalities, and therapeutic or toxic effects of drugs or devices. Electrocardiography serves as the gold standard for the noninvasive diagnosis of arrhythmias and conduction disturbances, and it occasionally is the only marker for the presence of heart disease.
Continue reading “Indications for Ambulatory Electrocardiography (AECG)”
Paget’s disease of bone (also known as osteitis deformans) is a nonmalignant disease involving accelerated bone resorption followed by deposition of dense, chaotic, and ineffectively mineralized bone matrix.
Continue reading “Diagnosis of Paget’s Disease of Bone”
Stereotactic radiosurgery is an appropriate form of therapy for patients who have one to four brain metastases, no larger than 4 cm in diameter, from metastatic cancer. It appears to be effective for all types of primary tumors, even those that have been considered to be resistant to conventional radiation therapy.
Continue reading “Advantages of Surgery and Stereotactic Radiosurgery for Brain Metastases”
Marfan syndrome is currently diagnosed using criteria based on an evaluation of the family history, molecular data, and 6 organ systems.
Continue reading “Diagnostic Criteria for Marfan Syndrome (MFS)”
Retinopathy of prematurity is a vision-threatening disease associated with abnormal retinal vascular development that occurs only in premature infants.
Continue reading “Classification of Retinopathy of Prematurity (RP)”
Juvenile idiopathic arthritis is a heterogeneous group of diseases characterised by arthritis of unknown origin with onset before age of 16 years.
Continue reading “ILAR Classification Criteria for Juvenile Idiopathic Arthritis (JIA)”
Hypothermia may be determined clinically on the basis of vital signs with the use of the Swiss staging system.
Continue reading “Swiss Staging of Hypothermia”
Acute bacterial sinusitis in children is diagnosed on the basis of the history, with the use of the criteria. Imaging studies (plain-film radiography, computed tomography [CT], magnetic resonance imaging [MRI], and ultrasonography) show signs of sinus inflammation but are not recommended in patients with uncomplicated infection, given the low specificity of these studies.
Continue reading “Clinical Criteria for the Diagnosis of Acute Bacterial Sinusitis”
Disease activity is assessed using a combination of the clinical history, physical examination, organ specific functional tests, and serologic studies.
Continue reading “Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)”
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