Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.

Autism is a heritable disorder, with over 250 associated genes identified to date, yet no single gene accounts for >1-2% of cases. The clinical presentation, behavioural symptoms, imaging and histopathology findings are strikingly heterogeneous. A more complete understanding of autism can be obtained by examining multiple genetic or behavioural mouse models of autism using magnetic resonance imaging (MRI)-based neuroanatomical phenotyping. Twenty-six different mouse models were examined and the consistently found abnormal brain regions across models were parieto-temporal lobe, cerebellar cortex, frontal lobe, hypothalamus and striatum. These models separated into three distinct clusters, two of which can be linked to the under and over-connectivity found in autism. These clusters also identified previously unknown connections between Nrxn1α, En2 and Fmr1; Nlgn3, BTBR and Slc6A4; and also between X monosomy and Mecp2. With no single treatment for autism found, clustering autism using neuroanatomy and identifying these strong connections may prove to be a crucial step in predicting treatment response.

Clinical results of the intra cytoplasmic sperm injection (ICSI) at Baqai Institute of Reproduction and Developmental Sciences (BIRDS).

OBJECTIVE: To analyse the results of the new revolutionary technique of Intra Cytoplasmic Sperm Injection (ICSI) for male infertility. Furthermore, to find out the ways of reducing cost of the expensive methods of Assisted Reproductive Techniques. DESIGN: This is an analytical study of results of 71 patients (86 Cycles) of ICSI performed in first year of its launching in Baqai Institute of Reproduction and Developmental Sciences (BIRDS) from May 1997 to April 1998. Men with semen reports of parameters less than WHO criteria were treated including Azoospermic men. RESULTS: After ICSI procedure a fertilisation rate of 58.9% was achieved in 86 cycles. A total of 17 clinical pregnancies were had from the transfer of fresh embryos. This includes three pregnancies from Surgical Sperm Collection in azoospermic men. Cost could be reduced by avoiding high dosage of drugs and by cutting out serial serum estrogen levels. Ultrasonic assessment for follicle monitoring is equally satisfactory. CONCLUSION: ICSI proved to be the only successful treatment for men with poor semen quality. It is giving nearly 20% chances of fatherhood in a man who was labeled infertile previously. Results are promising and will be improving with time. The cost could be reduced to an extent by cutting down drug doses and laboratory investigations without compromising the results.