Elevated catecholamine metabolites in patients with Costello syndrome
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چکیده
منابع مشابه
Urinary cystathionine, catecholamine, and metabolites in patients with neuroblastoma.
Urinary excretions of cystathionine, catecholamines, and vanillymandelic acidwere compared in 27 patients with neuroblastoma and in nine other patients with non-neurogenic tumors. Eleven of the 27 patientswere withoutclinical evidence of activeneuroblastomaatthe time ofthe study and excretedno or relatively small amounts of urinarycystathionine. Thirteenof the remaining 16 patients with progres...
متن کاملCostello syndrome.
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...
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Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia. Cardiac involvement can also occur in Costello syndrome and is presented in the form of hypertrophic cardiomyopathy, tachyarrythmias and valvular dysfunction. Nervous system involvement including ventriculomegaly, hydrocephaly and Chiari type 1 malformation are...
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Introduction: Irritable bowel syndrome (IBS) is accompanied by abdominal pain and intestinal discomforts. A line of evidence shows that the immune system plays important roles in the pathogenesis of the disease. Two main cytokines directing the immune system are IL-6 and TNF-α which may play a role in the immunopathogenesis of this disease. The present study aimed at investigating the serum lev...
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A 61-year old female presented with paroxysmal hypertension and a 4.5cm left adrenal mass on CT scan. Repeated measurements of 24-hour urinary fractionated metanephrines, total catecholamines and vanillylmandelic acid (VMA) were within normal range. A further scintigraphic study with (131)I -metaiodobenzylguanidine ((131)I-MIBG) revealed selective concentration of the radiotracer, corresponding...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 2004
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.a.30100