The UTX gene escapes X inactivation in mice and humans

We recently have identified a ubiquitously transcribed mouse Y chromosome gene, Uty , which encodes a tetratricopeptide repeat (TPR) protein. A peptide derived from the UTY protein confers H-Y antigenicity on male cells. Here we report the characterization of a widely transcribed X-linked homologue of Uty , called Utx , which maps to the proximal region of the mouse X chromosome and which detects a human X-linked homologue at Xp11.2. Given that Uty is ubiquitously transcribed, we assayed for Utx expression from the inactive X chromosome (Xi) in mice and found that Utx escapes X chromosome inactivation. Only Smcx and the pseudoautosomal Sts gene on the mouse X chromosome have been reported previously to escape inactivation. The human UTX gene was also found to be expressed from Xi. We discuss the significance of these data for our understanding of dosage compensation of X-Y homologous genes in humans and mice.      

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns

L1 is a neural cell adhesion molecule mainly involved in axon guidance and neuronal migration during brain development. Mutations in the human L1 gene give rise to a complex clinical picture, with mental retardation, neurologic abnormalities and a variable degree of hydrocephalus. Recently, a transgenic mouse model with a targeted null mutation in the L1 gene was generated. These knockout (KO) mice show hypoplasia of the corticospinal tract. Here we have performed further studies of these KO mice including magnetic resonance imaging of the brain, neuropathological analysis and behavioral testing. The ventricular system was shown to be abnormal with dilatation of the lateral ventricles and the 4th ventricle, and an altered shape of the Sylvius aqueduct. Additionally, the cerebellar vermis of the KO mice is hypoplastic. Their exploratory behavior is characterized by stereotype peripheral circling reminiscent of that of rodents with induced cerebellar lesions.      

Bilateral subacromial bursitis with macroscopic rice bodies: Ultrasound,CT and MR appearance

The radiological findings of ultrasound, CT and MR of a case of bilateral subacromial bursitis with macroscopic rice bodies is described. The previous literature is also reviewed.     

Pneumocystis carinii pneumonia: Pitfalls of prophylaxis

Pneumocystis carinii pneumonia (PCP) occurs commonly in immunocompromised patients. Sulfamethoxazole-trimethoprim (SMX-TMP) is effective prophylaxis, although PCP may still occur despite apparently adequate use. We report three cases of PCP which highlight some of the pitfalls of prophylaxis.     

SPECTRUM OF ACUTE RENAL FAILURE IN A SERVICE HOSPITAL

A prospective study of 82 patients with acute renal failure was carried out over the last 2 years. Mean age of the patients was 35.6 years (8-82 years). Male to female ratio was 3.5:1. The etiological factors were septicaemia in 18 patients (21.95%), aminoglycoside toxicity in 16 patients (19.51%), open heart surgery in 8 patients (9.76%), volume depletion and blood loss in 12 patients (14.63%), glomerulonephritis in 4 patients (4.88%), renal allograft dysfunction in 4 patients (4.88%), and miscellaneous causes in 20 patients (24.39%). Non-oliguric renal failure was observed in 39.02 per cent cases. Dialysis support was required in 65.8 per cent of the cases; with average 5.6 (4 to 11) dialysis sessions. Four patients of acute renal failure following open heart surgery were given continuous arterio-venous haemofiltration. Overall mortality was 32.5 per cent, septicaemia accounting for 60 per cent of the deaths.KEYWORDS: Antibiotics, Aminoglycoside, Renal failure acute, Septicemia