INTRODUCTIONGenetic predisposition to clear cell renal cell carcinoma (ccRCC) has been linked to disorders such as von Hippel-Lindau (VHL) syndrome. While twin research is a classic approach for elucidating genetic and environmental contributions to disease, no monozygotic twin-pair concordant for ccRCC in the absence of VHL syndrome has been previously reported in the literature or in major twin registries.

CLINICAL PICTUREWe describe a unique monozygotic twin-pair concordant for ccRCC, with discordant but early ages of onset of 25 and 38 respectively. Cytogenetic studies and direct sequencing for VHL gene mutations in the second twin proved unremarkable.

CONCLUSIONSThis is the fi rst reported case of monozygotic twins concordant for ccRCC in the absence of VHL gene mutation. The early yet discordant, age of onset of disease in both twins suggests both genetic and environmental contributions to ccRCC.

Adult ; Carcinoma, Renal Cell ; genetics ; pathology ; Diseases in Twins ; genetics ; pathology ; Humans ; Kidney Neoplasms ; genetics ; pathology ; Male ; Twins, Monozygotic ; von Hippel-Lindau Disease ; genetics

INTRODUCTIONTrauma is the fifth principal cause of death in Singapore, with traumatic brain injury (TBI) being the leading specific subordinate cause.

METHODSThis study was an eight-year retrospective review of the demographic profiles of patients with severe TBI who were admitted to the neurointensive care unit (NICU) of the National Neuroscience Institute at Tan Tock Seng Hospital, Singapore, between 2004 and 2011.

RESULTSA total of 780 TBI patients were admitted during the study period; 365 (46.8%) patients sustained severe TBI (i.e. Glasgow Coma Scale score ≤ 8), with the majority (75.3%) being male. The ages of patients with severe TBI ranged from 14-93 years, with a bimodal preponderance in young adults (i.e. 21-40 years) and elderly persons (i.e. > 60 years). Motor vehicle accidents (48.8%) and falls (42.5%) were the main mechanisms of injury. Invasive line monitoring was frequently employed; invasive arterial blood pressure monitoring and central venous pressure monitoring were used in 81.6% and 60.0% of the patients, respectively, while intracranial pressure (ICP) measurement was required in 47.4% of the patients. The use of tiered therapy to control ICP (e.g. sedation, osmotherapy, cerebrospinal fluid drainage, moderate hyperventilation and barbiturate-induced coma) converged with international practices.

CONCLUSIONThe high-risk groups for severe TBI were young adults and elderly persons involved in motor vehicle accidents and falls, respectively. In the NICU, the care of patients with severe TBI requires heavy utilisation of resources. The healthcare burden of these patients extends beyond the acute critical care phase.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Brain Injuries, Traumatic ; economics ; epidemiology ; therapy ; Critical Care ; economics ; statistics & numerical data ; Female ; Glasgow Coma Scale ; Hospitalization ; Humans ; Intensive Care Units ; economics ; statistics & numerical data ; Intracranial Pressure ; Male ; Middle Aged ; Monitoring, Physiologic ; Public Health ; Resource Allocation ; Retrospective Studies ; Singapore ; Young Adult