Action Myoclonus-Renal Failure Syndrome: A Case Report with Bioinformatic Annotations.

Action myoclonus-renal failure (AMRF) syndrome is a rare autosomal recessive disorder characterized by myoclonic epilepsy with occasional renal failure comorbidity. This study examines a consanguineous family with multiple members presenting myoclonic epilepsy. The disease's continued transmission within the family is attributable to a lack of genetic testing and the inability to establish a definitive diagnosis.

Minimally invasive excision of gynaecomastia--a novel and effective surgical technique.

Introduction: More aesthetically acceptable treatment options have been sought to minimise the morbidity associated with open surgery for gynaecomastia. This study investigated the use of a vacuum-assisted biopsy device (VABD) and liposuction to provide minimally invasive approach.

Patients And Methods: Patients diagnosed with idiopathic benign gynaecomastia referred to the Breast Care Unit of Castle Hill Hospital between June 2002 and April 2007 and requesting surgical intervention underwent VABD excision and liposuction.

Proteomic identification of putative biomarkers of radiotherapy resistance: a possible role for the 26S proteasome?

Purpose: We aimed to identify putative predictive protein biomarkers of radioresistance.

Experimental Design: Three breast cancer cell lines (MCF7, MDA-MB-231, and T47D) were used as in vitro models to study radioresistance. Inherent radiosensitivities were examined using a clonogenic survival assay.

Recurrence rates after DCE-MRI image guided planning for breast-conserving surgery following neoadjuvant chemotherapy for locally advanced breast cancer patients.

Background: Neoadjuvant therapy results in a significant increase in breast-conserving surgery. However, traditional imaging methods are unable to accurately predict the extent of viable residual disease leading to uncertainty in surgical planning and some previous studies have shown a disproportionately high incidence of locoregional recurrence. Dynamic contrast enhanced-MRI (DCE-MRI) has been shown to provide a potentially more accurate prediction of residual disease.