Andrew Will

Objectives:Fanconi anemia (FA) is an inherited, disease, associated with congenital and developmental abnormalities resulting from disruption of a multigenic DNA damage response pathway. This study aims to define the magnetic resonance imaging (MRI) appearances of the brain in patients with FA in correlation with their genetic and clinical features.Methods:Review of the brain MRI in 20 FA patients. Pituitary size and frequencies of radiologic findings of individuals with FA and age matched controls were determined.Results:Abnormalities were identified in eighteen (80%) FA patients, the commonest being a small pituitary (68%; p<0.01 females and p<0.001 males). In five cases (25%, p=0.02) the pituitary morphology was also abnormal. Posterior fossa abnormalities were seen in six cases (30%, p=0.01) including Chiari 1 malformation (n = 3), Dandy Walker variant (n = 2) and cerebellar atrophy (n = 2). Six patients (30% p=0.01) had morphological structural variation of the corpus callosum.Conclusions:The inciden...

Summary: Two detailed reviews of the management of neonatal thrombosis were published in 2012; one was an up‐dated version of guidance first issued in 2004 and the other was a comprehensive review. Both of these publications gave very similar advice regarding the practical aspects of the indications, dosage and management of antithrombotic therapy. The authors stated that the evidence supporting most of their recommendations for anti‐thrombotic therapy in neonates remained weak and so the therapy for a neonate with a thrombosis has to be based on an individualized assessment of estimated risk versus potential benefit. The aim of this present review is to give the treating physician an outline of the unique physiology of neonatal coagulation and how this affects the monitoring, dosing and even the choice of therapeutic strategy for the management of thrombosis in the neonate.

Tumour lysis syndrome (TLS) is caused by the disintegration of malignant cells, usually following the instigation of chemotherapy, although it may already be established at the time of initial presentation in a minority of cases. As a direct consequence of malignant cell breakdown, intracellular ions, proteins, nucleic acids and their metabolites are released into the plasma causing the characteristic metabolic abnormalities of TLS; hyperuricaemia, hyperkalaemia, hyperphosphataemia and hypocalcaemia. In many cases the release of large amounts intracellular contents is so abrupt that the normal homeostatic mechanisms are rapidly overwhelmed and without prompt, effective management, the clinical effects of TLS soon become apparent.