Acute gastric volvulus is an uncommon condition with severe repercussions if untreated in the acute presentation. We describe such a case. We assert that computed tomography (CT) should be the first line of investigation

Entrapment of renal artery by the diaphragmatic crus is a rare cause of renal artery stenosis. Spiral computed tomography angiography provides a definitive diagnosis and shows the precise relationship of the artery to the diaphragmatic crus. The authors present a case of hypertension developing in a young 20-year-old female due to entrapment of the left renal artery by the diaphragmatic crus. This condition should be considered in young hypertensive patients with renal artery stenosis without cardiovascular risk factors.

Pseudomonas aeruginosa and Candida albicans (are opportunistic pathogens that cause systemic infections in immune-suppressed patients. They show important bacterial-fungal interactions including quorum sensing. This involves cell signaling to communicate between the cells of their own colony and the cells of rival microbes or the host. It is thought that this phenomenon is vital in the potential competition and virulence of the organisms. We report a case of a previously healthy 2-year-old boy, where an accidental injury had been sustained resulting in a closed fracture of femur. He subsequently developed sepsis related to co-infection by C. albicans and P. aeruginosa. Trauma may result in a transient immune-suppression and predispose to sepsis caused by opportunistic microorganisms. They can engage in bacterial-fungal interaction. Clinicians should consider invasive co-infection when initial cultures show evidence for only 1 pathogen.

KIAA0753-related skeletal ciliopathy is a recently described recessive disorder causing skeletal dysplasia and overlapping features of certain ciliopathies; Joubert, Jeune and Oro-facialdigital syndromes. We describe a ninth case that expands the phenotype; a 10-year-old girl with rhizomelic short stature (−5.6 SD), macrocephaly, developmental delay, CNS anomalies (thin corpus callosum, bilateral ventriculomegaly), cone-rod dystrophy, nystagmus, mild conductive hearing loss and recurrent chest infections secondary to confirmed ciliary dyskinesia.Testing for FGFR3 achondroplasia-related hotspots and mucopolysaccharidosis were negative. Wholeexome sequencing, aged eight, via skeletal dysplasia panel analysis and subsequent whole-genome sequencing (via the 100,000 genomes project) found no cause. WGS data reanalysis using exomiser uncovered compound heterozygous pathogenic KIAA0753 variants (frameshift and splice site). Further clinical and radiological surveys were consistent with the expected phenotype.We discuss the emerging phenotype of this uncommon disorder. This report details the sixth published case of skeletal dysplasia in all cases of KIAA0753-related disease and the first case to describe a novel c.1830-2A>G splice variant. Our case is the eldest woman reported to date (aged ten years) and the only known case to report associated hearing loss, leg-length discrepancy, pectus carinatum, respiratory ciliary dyskinesia and late-onset (9 years old) neuro-degenerative regression.