RESUMEN
BACKGROUND: Patients with gastrointestinal lesions; unsuccessfully diagnosed by endoscopy are challenging to gastroenterologists. We aimed to study the role and safety of ultrasound, its guided biopsy in visualizing and diagnosing these bowel lesions. PATIENTS AND METHODS: Sixty-three patients with endoscopically and/or imaging documented gastrointestinal lesions were prospectively enrolled. All had detailed high-frequency (5-8 MHz) transabdominal bowel ultrasound examination to identify, localize and characterize the lesions, which were further biopsied using ultrasound guidance. RESULTS: Lesions were histo-pathologically diagnosed; 57 (90.5%) were malignant and 6 (9.5%) were benign. Ultrasound was able to localize all the lesions. They were characterized as focal in 12 (19.1%) and diffuse bowel wall involvement in 51 (80.9%) patients. Ultrasound was capable of suggesting the nature of diffuse bowel involvement whether benign or malignant in 94.1%. Comparing malignant diffuse bowel lesions and benign ones; the former had greater mean wall thickness (2.2 vs. 1.1 cm), loss of layering pattern (87.2 vs. 50%), asymmetrical pattern of involvement (78.7 vs. 0%), short length of affected segment (87.2 vs. 50%) and paucity of perilesional findings. Ultrasound-guided core biopsy was diagnostic in 60 (95.2%) patients with no reported complications. Diagnostic laparotomy was resorted to in 3 (4.8%). Ultrasound-guided bowel wall core biopsy had sensitivity of 98.2% in diagnosing malignant lesions and specificity of 66.6% in benign lesions. CONCLUSION: High-frequency transabdominal ultrasound and ultrasound-guided core biopsy of bowel lesions are potentially safe and effective diagnostic methods in select gastrointestinal lesions whenever conventional endoscopic diagnosis was unsuccessful, thus avoiding unnecessary diagnostic surgical procedures.
Asunto(s)
Biopsia con Aguja/métodos , Neoplasias Gastrointestinales/patología , Ultrasonografía Intervencional , Adolescente , Adulto , Anciano , Diagnóstico Diferencial , Endoscopía Gastrointestinal , Femenino , Neoplasias Gastrointestinales/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
Fatty Acid Oxidation disorders represent an expanding group of inborn errors of metabolism. Clinical manifestations include episodic encephalopathy, hypoketotic hypoglycemia, Reye like episodes, hepatic, muscular, cardiac affection and sudden death. Analysis of urinary organic acids and plasma fatty acids of 44 clinically suspected patients by Gas Chromatography Mass spectrometry revealed 4 cases of Medium chain acyl-CoA dehydrogenase deficiency (MCADD), 3 cases of Very long chain acyl-CoA dehydrogenase deficiency, 9 cases of multiple defects of acyl-CoA dehydrogenation in addition to 3 patients with other metabolic disorders. Timely detection of these disorders including screening for MCADD can have a favorable impact on the outcome of these patients (Tab. 11, Fig. 3, Ref. 24) Full Text (Free, PDF).
Asunto(s)
Encefalopatías Metabólicas/diagnóstico , Ácidos Grasos/metabolismo , Errores Innatos del Metabolismo Lipídico/diagnóstico , Preescolar , Egipto , Femenino , Humanos , Lactante , MasculinoRESUMEN
We report on a 3-year-old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.