No abstract available.
Goldenhar Syndrome*

No abstract available.

This study was aimed to evaluate associated congenital anomalies in the patients with esophageal atresia with tracheoesophageal fistula (EA/TEF). Forty-two neonates with the diagnosis of EA/TEF treated over a 10 year period in a single institution were included in this study. The demography of EA/TEF was analyzed. Major associated anomalies including vertebral, anal, cardiac, renal, limb, neurologic and chromosome were reviewed and categorized. Males were slightly more dominant than females (1.47:1) and all patients had Gross type C EA/TEF. Only 19% of the patients had solitary EA/TEF without associated anomalies. Cardiac anomalies were the most common associated congenital anomaly in patients with EA/TEF (73.8%). But 47.6% were cured spontaneously or did not affect patients' life. Atrial septal defect (ASD) was the most common cardiac anomaly followed by patent ductus arteriosus (PDA) and ventricular septal defect (VSD). Among gastrointestinal anomalies (23.8%), anorectal malformations were the most frequent, 70% Vertebral and limb abnormalities accounted for 11.9% and urogenital malformations 9.5% of the anomalies in patients with EA/TEF. VACTERL associated anomalies were 23.8% and 4.8% had full VACTERL. Almost 12% of EA/TEF had neurologic anomalies. Patients with EA/TEF require preoperative evaluation including neurologic evaluation to detect anomalies not related to VACTERL. Though associated cardiac anomaly occurred in 73.8% of patients in our study, only 21.42% needed surgical correction. The authors suggesrs further studies with large numbers of patients with EA/TEF.
Benzeneacetamides ; Demography ; Ductus Arteriosus, Patent ; Esophageal Atresia ; Extremities ; Female ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Infant, Newborn ; Male ; Piperidones ; Tracheoesophageal Fistula

PURPOSE: Papillary thyroid carcinoma (PTC) is the most common malignant tumor of the thyroid and BRAFV600E mutation is the most frequent genetic alteration in PTC. BRAFV600E mutation has been demonstrated as a prognostic biomarker for prediction of poor clinicopathological outcomes, such as increased incidence of extrathyroidal extension, lymph node metastasis, and advanced stage. However, there is conflicting literature regarding the association of BRAFV600E mutation and aggressive clinicopathological features. In this study, we investigated the prevalence of BRAFV600E mutation in PTC and determined the association of BRAF mutation with indicators of poor prognosis for PTC. METHODS: We reviewed 1009 patients with PTC, who underwent thyroid surgery at Kyungpook National University Hospital between January 2013 and March 2014. BRAFV600E mutation analysis was performed using real-time polymerase chain reaction based amplification of DNA extracted from paraffin-embedded tumor specimens. RESULTS: BRAFV600E mutation was detected in 863 (85.5%) patients. In univariate analysis, histologic subtype, extrathyroidal extension, and advanced stage showed significant association with BRAFV600E mutation. In addition, concurrent Hashimoto's thyroiditis showed an association with low prevalence of BRAFV600E mutation. However, no statistically significant association was observed for age, gender, multifocal or bilateral tumor, and lymph node metastasis. Multivariate analysis showed an independent association of extrathyroidal extension with BRAFV600E mutation. CONCLUSION: In this study, extrathyroidal extension of PTC is an independent prognostic factor associated with BRAFV600E mutation status. However, conduct of further large scale studies with long term follow up is required before the BRAF mutation can be conclusively recommended as a prognostic biomarker.
DNA ; Gyeongsangbuk-do ; Humans ; Incidence ; Lymph Nodes ; Multivariate Analysis ; Neoplasm Metastasis ; Prevalence ; Prognosis ; Real-Time Polymerase Chain Reaction ; Thyroid Gland ; Thyroid Neoplasms* ; Thyroiditis

Ectopic breast tissue can occur anywhere along the incompletely regressed mammary ridge. Among the various types of breast choristoma, ectopic breast tissue, which has only glandular tissue without a nipple or areola, is most commonly detected in axillary areas. However, ectopic breast cancer is often not detected until significant clinical symptoms have been revealed, or diagnosis is delayed. Furthermore, an examination of ectopic breast tissue tends to be omitted from a screening mammography. Especially, the microcalcifications of ectopic breast tissue are difficult to delineate on mammography. Herein, the authors report a case of ectopic breast carcinoma that showed clustered microcalcifications on screening mammography, and discuss the interpretation and implications of microcalcification in ectopic breast tissue.
Breast Neoplasms ; Breast* ; Carcinoma, Ductal* ; Choristoma ; Diagnosis ; Mammography* ; Mass Screening* ; Nipples