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Volume 6 | Issue 1 | January-March 2013

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January-March 2013 | Vol 6 | Issue 1 | Pages 1-2
Indian Academy of Medical Genetics: a new forum for Indian Geneticists
It gives me great pleasure to announce the pathophysiology and with the rapidly increasing foundation of the Indian Academy of Medical clinical applications of medical genetics, it has Genetics (IAMG). The formal inauguration of the become pertinent for all the medical fraternity to be IAMG and launching of its official website was held aware of advancements in this field. on 27th October 2012 at Manipal, Karnataka. The...

Shubha R Phadke
January-March 2013 | Vol 6 | Issue 1 | Pages 3-5
Single forearm bone on antenatal scan: Diagnosis of VACTERL association on autopsy
Perinatal autopsy remains the standard for A 22-years-old primigravida married nondetermining the cause of a perinatal loss. Despite consanguineously was antenatally diagnosed to improvements in prenatal diagnosis, perinatal have an anomalous fetus with club hand deformity autopsy remains important in the confirmation and of the left hand and a single bone in the left further delineation of prenatal diagnosis. We report forearm. She had a spontaneous abortion at 23 here on a fetus spontaneously aborted at 23 weeks...

S Nayak , Asha Rawal , Prashanth K Adiga , Lavanya Rai , Girisha KM
January-March 2013 | Vol 6 | Issue 1 | Pages 6-12
Approach to Disorders of Sex Development
Disorders of sex development (DSD) are a group of Ÿ Disorders of testicular development congenital conditions in which the development of Ÿ Disorders of androgen synthesis chromosomal, gonadal, or anatomical sex is atypical....

Prajnya Ranganath
January-March 2013 | Vol 6 | Issue 1 | Pages 13-15
Genetics of Preeclampsia
Preeclampsia (PE) is a potentially life-threatening from the Swedish Twin Register and Swedish condition with a multifactorial etiology and a Medical Birth Register, reported the estimates of strong genetic contribution. It is associated with heritability of PE to be 0.54 (95% CI=0–0.71), but in significant maternal and fetal morbidity and case of non-proteinuric gestational hypertension, mortality. It is a hypertensive disorder that occurs the heritability estimated was 0.47 (95% in approximately 5% of all pregnancies....

Sonam Tulsyan, Usha Gupta, Suraksha Agrawal
January-March 2013 | Vol 6 | Issue 1 | Pages 16
Emerging Concepts in Diagnostics and Therapeutics
Prater et al report the long term outcome in 11 ambulatory devices. All had sustained improvement patients successfully treated with enzyme in cardiac parameters. Residual muscle weakness, replacement therapy (ERT) with alglucosidase alfa hearing loss, risk for arrhythmias, hypernasal for infantile Pompe disease. The patients were speech, dysphagia with risk for aspiration, and recruited if they were ventilator free, had ERT osteopenia were the problems reported. There are institution before 6 months age and remained alive...

Dr Shagun Aggarwal