Diagnosis of Wilms' tumor
Wilms' tumor Diagnosis: Book Excerpts
Diagnostic Tests for Wilms' tumor: Online Medical Books
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Hearing Loss – Congenital:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
- Infections
–CMV: Most common intrauterine infection
causing hearing loss
–Bacterial meningitis
–Congenital rubella: Cataracts, cardiovascular
anomalies, retinitis, mental retardation
–Congenital syphilis
–Toxoplasmosis
–Lyme disease - Metabolic
–Hyperbilirubinemia (kernicterus): Consider phototherapy or exchange transfusion if serum bilirubin >20 mg/dL in newborn
–Hypercholesterolemia
-
Ototoxic medications
–Aminoglycoside, gentamicin often needed for perinatal sepsis; >5 days risks hearing loss
-
Temporal bone anomaly
–Middle ear anomaly (results in conductive
hearing loss)
–Perilymphatic fistula
–Dilated vestibular aqueduct (±Mondini
deformity)
–Michel cochlear aplasia
–Scheibe aplasia: Membranous aplasia; bony
labyrinth normal
-
Nonsyndromic hereditary congenital deafness (connexin 26 gene mutation is responsible for half of all genetic deafness)
-
Syndromic hereditary congenital deafness
–Waardenburg: Telecanthus, confluent eyebrow, colored irides, white forlock
–Usher: Retinitis pigmentosa (totally blind by second to third decade), ataxia, vestibular dysfunction
–Alport: Progressive nephritis and hearing loss
–Apert (acrocephalosyndactyly): Craniofacial dysostosis
–Crouzon (craniofacial dysostosis): Prognathic mandibile, small maxilla
–Jervell and Lange-Neilsen: Heart disease
(prolonged QT interval)
–Pendred: Euthyroid goiter
–Oto-palatal-digital: Cleft palate, stubby
clubbed digits
–Congential aural atresia
Workup and Diagnosis
-
Newborn hearing screening
–Otoacoustic emissions and/or auditory brainstem response; behavioral audiometry when older
-
Medical history for risk factors
–Infections, low birth weight (<1,500 g), prolonged intubation and ventilation
-
Family history for hearing loss, consanguinity
-
Physical exam, including otoscopy to rule out gross external or middle ear anomalies
-
CMV titers
-
CT scan to rule out temporal bone abnormalities, and determine whether patient is a cochlear implant candidate
-
β2 gap junction protein (connexin 26) genetic testing
-
Urinalysis and renal ultrasound to rule out Alport syndrome
-
Electroretinography to rule out Usher syndrome in patients with associated progressive blindness
-
Electrocardiography (ECG) to rule out Jervell and Lange-Neilsen syndrome (prolonged QT interval, sudden death risk with athletics)
-
Thyroid function tests
-
Chromosomal testing
>
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Kidney cancer:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Studies to identify kidney cancer usually include computed tomography scans, excretory urography, retrograde pyelography, ultrasound, cystoscopy (to rule out associated bladder cancer), and nephrotomography or renal angiography to distinguish a kidney cyst from a tumor.
Related tests include liver function studies showing increased levels of alkaline phosphatase, bilirubin, alanine aminotransferase and aspartate aminotransferase, and prolonged prothrombin time. Such results may point to liver metastasis, but if metastasis hasn't occurred, these abnormalities reverse after tumor resection.
Routine laboratory findings of hematuria, anemia (unrelated to blood loss), polycythemia, hypercalcemia, and increased erythrocyte sedimentation rate call for more testing to rule out kidney cancer.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Kidney cancer:
Diagnosis
(Handbook of Diseases)
Studies to identify kidney cancer usually include computed tomography scans, excretory urography and retrograde pyelography, ultrasound, cystoscopy (to rule out associated bladder cancer), and nephrotomography or renal angiography to distinguish a kidney cyst from a tumor.
Related tests include liver function studies showing increased levels of alkaline phosphatase, bilirubin, alanine aminotransferase, and aspartate aminotransferase as well as prolonged prothrombin time. Such results may point to liver metastasis, but if metastasis hasn’t occurred, these abnormalities reverse after the tumor has been resected.
Routine laboratory findings of hematuria, anemia (unrelated to blood loss), polycythemia, hypercalcemia, and increased erythrocyte sedimentation rate call for more testing to rule out kidney cancer. A bone scan should also be performed to rule out skeletal metastasis.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Congenital Infections:
Diagnosis
(Pediatric Infectious Disease)
The gold standard of diagnosis is isolation of the virus, usually from the
urine. Urine viral cultures are often positive within days because the kidney
is a principal site of viral replication. Proof of congenital infection is
based on obtaining appropriate specimens within 3 weeks of birth. After this
time, distinguishing between intrauterine infection and perinatal infection may
be difficult.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Infectious Disease, 2004
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