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1.
Singapore medical journal ; : e92-4, 2012.
Artigo em Inglês | WPRIM | ID: wpr-334477

RESUMO

Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding. She had a known diagnosis of achalasia for eight years, and ophthalmologic examination revealed alacrima. Based on our findings, the patient was diagnosed with Allgrove syndrome.


Assuntos
Feminino , Humanos , Adulto Jovem , Insuficiência Adrenal , Sangue , Diagnóstico , Genética , Hormônio Adrenocorticotrópico , Sangue , Diagnóstico Diferencial , Técnicas de Diagnóstico Oftalmológico , Endoscopia Gastrointestinal , Acalasia Esofágica , Sangue , Diagnóstico , Genética , Mutação , Proteínas do Tecido Nervoso , Sangue , Genética , Complexo de Proteínas Formadoras de Poros Nucleares , Sangue , Genética
2.
Medical Principles and Practice. 2005; 14 (3): 194-8
em Inglês | IMEMR | ID: emr-73528

RESUMO

This study was planned to investigate the efficacy of either 99mTc-sestamibi scan or ultrasonography in predicting the operative treatment in patients with primary hyperparathyroidism [PHPT]. Subjects and Method: Thirty patients [25 female, 5 male; mean age: 53 years] being operated for symptomatic primary PHPT were included in this study. Ultrasonography was used in 29 patients while 99mTc-sestamibi scintigraphy was done in 28 patients to localize the hyperfunctioning gland[s]. Standard bilateral neck exploration was done in 6 patients. Although unilateral intervention had been planned for 24 patients, bilateral intervention was performed in 9 of them. Sensitivity of 99mTc-sestamibi was 81%, while that of ultrasonography was 42%. 99mTc-sestamibi localization method led to misleading results in 10/28 [35.7%] patients. False-positive localization and accompanying thyroid pathologies played an important role in determining transition from unilateral to bilateral intervention. Our findings indicate that bilateral intervention remains a successful management option without prior localization in patients with PHPT especially in an endemic goiter region


Assuntos
Humanos , Masculino , Feminino , Ultrassonografia , Tecnécio Tc 99m Sestamibi , Cintilografia , Gerenciamento Clínico , Paratireoidectomia , Hipercalcemia
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