9 research outputs found

    CT Prevalence Studies in India.

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    <p>This table shows a review on Indian data which show a wide variation in CT prevalence and methods of laboratory confirmation.</p

    Neonate Characteristics.

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    <p>There were 768 newborn specimens (NP and conjunctival) obtained from the neonates of the 784 enrolled mothers who had both NAAT and RDT results reported. This table describes the neonatal characteristics.</p

    Study Flow Chart.

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    <p>April 2009 to January 2010, 7955 women delivered during the recruitment period. 1198 (88%) women were enrolled; 799 endocervical samples from the 1198 enrolled subjects were collected and data on 784 participants with both RDT and NAAT results are reported.</p

    Baseline characteristics of Enrolled Mothers, Enrolled Tested mothers, and Enrolled and not Tested.

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    *<p>(50Rs = 1 USD).</p><p>This table shows that tested mothers were significantly older, multiparous, and higher socio-economic group compared to untested mothers (p = 0.03, p = <0.0001, and p = 0.03; respectively).</p

    Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India

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    <div><p>Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. In this study, utilizing the Next generation sequencing (NGS) based protocol fifty subjects were screened for variants in a panel of thirteen MODY genes. Of these subjects 18% (9/50) were positive for definite or likely pathogenic or uncertain MODY variants. The majority of these variants was identified in subjects with autosomal dominant family history, of whom five were in women with pre-GDM and four with overt-GDM. The identified variants included one patient with <i>HNF1A</i> Ser3Cys, two <i>PDX1</i> Glu224Lys, His94Gln, two <i>NEUROD1</i> Glu59Gln, Phe318Ser, one <i>INS</i> Gly44Arg, one <i>GCK</i>, <i>one ABCC8</i> Arg620Cys and one <i>BLK</i> Val418Met variants. In addition, three of the seven offspring screened were positive for the identified variant. These identified variants were further confirmed by Sanger sequencing. In conclusion, these findings in pregnant women with diabetes, imply that a proportion of GDM patients with autosomal dominant family history may have MODY. Further NGS based comprehensive studies with larger samples are required to confirm these finding</p></div
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