Search

Your search keyword '"Shilpa Mithbawkar"' showing total 3 results
Start Over Author "Shilpa Mithbawkar"
3 results on '"Shilpa Mithbawkar"'

1. Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

Author

Reetika Malik Yadav, Maya Gupta, Aparna Dalvi, Umair Ahmed Bargir, Gouri Hule, Snehal Shabrish, Jahnavi Aluri, Manasi Kulkarni, Priyanka Kambli, Ramya Uppuluri, Suresh Seshadri, Sujatha Jagadeesh, Beena Suresh, Jayarekha Raja, Prasad Taur, Sivasankar Malaischamy, Priyanka Ghosh, Shweta Mahalingam, Priya Kadam, Harsha Prasada Lashkari, Parag Tamhankar, Vasundhara Tamhankar, Shilpa Mithbawkar, Sagar Bhattad, Prerna Jhawar, Adinarayan Makam, Vandana Bansal, Malathi Prasad, Geeta Govindaraj, Beena Guhan, Karthik Bharadwaj Tallapaka, Mukesh Desai, Revathi Raj, and Manisha Rajan Madkaikar

Subjects
prenatal diagnosis, chorionic villus sampling, maternal contamination, cordocentesis, flow cytometry, variants of unknown significance, Immunologic diseases. Allergy, RC581-607
Abstract

Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.

Published
2020
Full Text
View/download PDF

2. Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

Author

Jahnavi Aluri, R Yadav, Suresh Seshadri, Prerna Jhawar, Umair Ahmed Bargir, Snehal Shabrish, Karthik Bharadwaj Tallapaka, Beena Guhan, Malathi Prasad, Manisha Madkaikar, Mukesh Desai, Sivasankar Malaischamy, B. Suresh, Manasi Kulkarni, Sagar Bhattad, Geeta Madathil Govindaraj, Revathi Raj, Vasundhara Tamhankar, Aparna Dalvi, Shilpa Mithbawkar, Jayarekha Raja, Ramya Uppuluri, Vandana Bansal, Gouri Hule, Harsha Prasada Lashkari, Sujatha Jagadeesh, Priyanka Ghosh, Priya Kadam, Parag M Tamhankar, Adinarayan Makam, Priyanka Kambli, Prasad Taur, Maya Gupta, and Shweta Mahalingam

Subjects
0301 basic medicine, lcsh:Immunologic diseases. Allergy, medicine.medical_specialty, chorionic villus sampling, Primary Immunodeficiency Diseases, Genetic counseling, Immunology, India, Chorionic villus sampling, Prenatal diagnosis, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Immunology and Allergy, Genetic Testing, Index case, reproductive and urinary physiology, variants of unknown significance, Original Research, 030219 obstetrics & reproductive medicine, prenatal diagnosis, medicine.diagnostic_test, business.industry, Obstetrics, flow cytometry, Genetic Diseases, Inborn, medicine.disease, maternal contamination, Indian scenario, 030104 developmental biology, Mutation, Amniocentesis, Primary immunodeficiency, Female, business, lcsh:RC581-607, cordocentesis
Abstract

Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.

Published
2020
Full Text
View/download PDF

3. A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration

Author

Vasundhara Tamhankar, Takeshi Ikeuchi, Yanick J. Crow, Shilpa Mithbawkar, Bin Zhu, John H. Livingston, Luis Seabra, and Parag M Tamhankar

Subjects
0301 basic medicine, Biallelic Mutation, Male, Pediatrics, medicine.medical_specialty, Encephalopathy, 030105 genetics & heredity, Asymptomatic, Leukoencephalopathy, 03 medical and health sciences, Lateral ventricles, Consanguinity, 0302 clinical medicine, Fatal Outcome, Leukoencephalopathies, medicine, Humans, Allele, Exome, business.industry, General Medicine, medicine.disease, Pedigree, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

We report the clinical and molecular characterization of a novel biallelic mutation in the CSF1R gene leading to an autosomal recessive form of childhood onset leukoencephalopathy in a consanguineous family. The female child experienced acute encephalopathy at the age of 2 years, followed by spasticity and loss of all achieved milestones over 6 months. Her elder brother presented with encephalopathy at 4 years of age, with a subsequent loss of all achieved milestones over 8 months. Brain imaging in both children revealed multiple well-defined areas of calcification in the parietal and frontal regions and the occipital horns of both lateral ventricles. Clinical exome trio analysis showed homozygosity for a p.T833M mutation in CSF1R in the girl. Heterozygous family members, including both parents, were asymptomatic, with the eldest being 68 years of age. Total CSF1R protein expression levels were normal as compared with wild-type allele, but CSF1 ligand dependent autophosphorylation was consistent with a hypomorphic allele.

Published
2020

Catalog

Books, media, physical & digital resources
See catalog results