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| IAMG |
Volume 6 | Issue 1 | January-March 2013 |
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| GeNeDiT | ||
| 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 |
||
| ClinicalVignette | ||
| 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 |
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| GeNeViSTA | ||
| 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 |
||
| GeNeViSTA | ||
| 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 |
||
| GeNeXprESS | ||
| 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 |
||