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Volume 2 | Issue 3 | July to September 2009

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July to September 2009 | Vol 2 | Issue 3 | Pages 2
Lysosomal Storage Disorders: What is in store for the patients?
Genetic diseases were seen to have a prognosis without hope and with cure nowhere in sight. The list of untreatable genetic disorders is long - malformations, mental retardation, neuromuscular disorders, disorders of bone and skin, cardiomyopathies, retinitis pigmentosa etc. But with advances in the understanding of molecular bases of genetic...

Dr Shubha R Phadke
July to September 2009 | Vol 2 | Issue 3 | Pages 4-6
Spinal Muscular Atrophy in Clinical Practice
Spinal muscular atrophy (SMA) is a common inherited neuromuscular disease in children with a frequency of 1 in 10000 livebirths. It is a disease where spinal cord shows severe loss of motor neuron in the anterior horn region manifesting with muscle weakness of variable severity. Significant advances in understanding the molecular pathogenesis has...

Girisha KM , Govardhan KS , Gopinath PM , Satyamoorthy K
Clinical Vignettes
July to September 2009 | Vol 2 | Issue 3 | Pages 7
Thumb and great toe aplasia - Yunis Varon syndrome
A 27-days -old female child was born as asphyxiated full term, low birth weight baby by caesarean section for polyhydroamnios to a nonconsanguinous young couple. She had multiple congenital anomalies. Antenatal ultrasound showed polyhydramnios. Anthropometric examination showed presence of microcephaly [head circumference =31 cm <-2SD]. She had light colored sparse hairs, epicanthic folds,....

Neerja Gupta, Manju Ghosh, Madhulika Kabra
July to September 2009 | Vol 2 | Issue 3 | Pages 8-9
Disorders Of The RAS-MAPK Pathway: Prototype of Pathway Disorders with Overlapping Phenotypes
A molecular pathway may be defined as a series of molecular interactions that generates a particular end product or leads to a certain cellular function. A signal transduction pathway is a molecular pathway that 'transduces' an extracellular signal into changes in gene transcription within the cell; the external signal in the form of an extracellular ligand binds to a surface...

Prajnya Ranganath, Shubha R Phadke
July to September 2009 | Vol 2 | Issue 3 | Pages 13
Prenatal diagnosis of cytogenetic abnormalities is primarily done for detection of aneuploidy in the fetuses after being identified as high risk in various screening procedures, but many unbalanced submicroscopic chromosomal aberrations below the resolution of a standard karyotype analysis less than 4Mb often remain undetected. Array-based comparative genomic ...

Meenal Agarwal and Parag Mohan Tamhankar