Hepatobiliary Actinomycosis, a Rare Presentation of a Rare Disease!

Actinomycosis is a chronic granulomatous infection caused by opportunistic bacteria, Actinomyces. These bacteria lack virulence and cause disease when there is a breach in the integrity of the mucosa. Diagnosis of Actinomycosis is challenging and less than 10% of abdominopelvic cases are diagnosed preoperatively.

Assessment of the delayed repair of uncomplicated inguinal hernias in infants.

Background: Potential strangulation of infant inguinal hernias is the main indication for their urgent repair. Lack of theatre time delays repair and prolongs hospitalisation. We report a series of patients with uncomplicated hernias who were discharged home to have their elective surgery at a later stage and assessed the outcomes of this approach.

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.

Background: We evaluated a methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA) assay for the molecular diagnosis of transient neonatal diabetes mellitus (TNDM) caused by 6q24 abnormalities and assessed the clinical utility of using this assay in combination with next generation sequencing (NGS) analysis for diagnosing patients with neonatal diabetes (NDM).

Methods: We performed MS-MLPA in 18 control samples and 42 retrospective NDM cases with normal bi-parental inheritance of chromosome 6. Next, we evaluated 22 prospective patients by combining NGS analysis of 11 NDM genes and the MS-MLPA assay.