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Volume 4 | Issue 3 | July-September 2011

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July-September 2011 | Vol 4 | Issue 3 | Pages 1-2
Treatments for genetic disorders : From bench to bedside
Identification of genetic defects of monogenic disorders had led to the hope of dramatic and complete cure by gene therapy, but even after at least a couple of decades of research, gene therapy still continues to remain a distant dream. The success of gene therapy for SCID X1 has proved that gene therapy can provide a complete or long ...

Shubha R Phadke
July-September 2011 | Vol 4 | Issue 3 | Pages 3-4
Echogenic foci in left upper abdominal quadrant in a fetus with Down syndrome
An area of increased echogenicity in the fetal abdomen is a common ultrasound finding. The grading of echogenicity varies and is significant if the brightness equals that of the bone. Increased echogenicity in fetal abdomen can be seen in the intestines (most common), liver, and kidneys or may be scattered throughout the...

Seema Thakur, A Baijal, Meena Lal, I C Verma
July-September 2011 | Vol 4 | Issue 3 | Pages 5-8
Fetal Autopsy in Clinical Practice
Congenital malformations remain a common cause of perinatal mortality and account for 25-30% of perinatal deaths in developed countries and 10-15% in developing countries like India. Three percent of neonates have a major congenital malformation and 0.7% have multiple congenital malformations. One such mishap creates...

Sankar VH
July-September 2011 | Vol 4 | Issue 3 | Pages 9-13
Management of lysosomal storage disorders: the current status
Lysosomal storage disorders (LSDs) are a group of inborn errors of metabolism (IEM) characterized by the intra- lysosomal accumulation of complex macro-molecules. Lysosomes are membrane – enclosed compartments within the cytosol of most cell types, which contain acidic hydrolytic enzymes involved in the degradation of certain..

Prashant Verma, Prajnya Ranganath
July-September 2011 | Vol 4 | Issue 3 | Pages 14-15
Familial Infertility : A Case Report
Y chromosome microdeletions are an important cause of male infertility. In this era of Assisted Reproductive Techniques (ART), identification of Y chromosome microdeletions is important as these individuals can father children with the help of Intra Cytoplasmic Sperm Injection (ICSI). But in this situation the microdeletions...

Anju Shukla, Balraj Mittal, Shubha R Phadke
July-September 2011 | Vol 4 | Issue 3 | Pages 16-17
One step forward: from diagnostics to therapeutics
RASopathies, a term given to a large group of disorders, include Noonan syndrome (NS), LEOPARD syndrome, capillary malformation-AV malformation syndrome, neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), and Legius syndrome. These syndromes are caused by germline...

Dr Rekha Gupta