Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Background: Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking.

Methods: We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes.

Diverging white matter trajectories in children after traumatic brain injury: The RAPBI study.

Objective: To examine longitudinal trajectories of white matter organization in pediatric moderate/severe traumatic brain injury (msTBI) over a 12-month period.

Methods: We studied 21 children (16 M/5 F) with msTBI, assessed 2-5 months postinjury and again 13-19 months postinjury, as well as 20 well-matched healthy control children. We assessed corpus callosum function through interhemispheric transfer time (IHTT), measured using event-related potentials, and related this to diffusion-weighted MRI measures of white matter (WM) microstructure.

Extended spectrum AmpC and metallo-beta-lactamases in Serratia and Citrobacter spp. in a disc approximation assay.

Objectives: This study aimed to develop a novel model for detection of extended spectrum beta-lactamase (ESBL), AmpC and metallo-beta-lactamase (MBL) producing Serratia and Citrobacter species using cefoperazone sulbactam as well as other inducer-substrate combinations in a disc approximation assay. In the absence of molecular tools in developing countries, we attempted to standardize simple phenotypic techniques for detection of beta-lactamases to allow effective patient care in our countries. These techniques have been scarcely used in Serratia and Citrobacter spp.

Multivesicular mediastinal hydatid cyst presenting with left recurrent and phrenic nerve palsy.

Hydatid disease caused by Echinococcus granulosus is endemic in Indian subcontinent and a common surgical problem. Although hydatid cyst is common in the liver and lung, it can be encountered in almost every part of the body. Mediastinal hydatid disease is a rare occurrence and only a few cases have been reported in the literature.

Giant cell tumour of the anterior arc of a rib presenting as a breast lump: a case report.

Giant cell tumour (GCT) of the anterior arc of a rib is a very rare occurrence and quite often the diagnosis is delayed. We report a case of GCT of a rib arising from the anterior arc which presented as a breast lump. The diagnosis of GCT was considered in the differentials only when percutaneous biopsy revealed multinucleated osteocleastic giant cells.

Intrarenal post-traumatic pseudoaneurysm-USG colour Doppler diagnosis: a case report with review of literature.

Renal artery pseudoaneurysm, although a well-known complication in patients after penetrating trauma or iatrogenic injury, has rarely been described after blunt torso trauma. A 22-year-old man suffered an accident while on a motorcycle. Upon arrival in the Emergency Room, the patient was unconscious, hypotensive and had hematuria.