Publications by authors named "A S NANDINI"
Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation. Mutational profiling is vital as it has implications for diagnosis, prognosis, and therapeutic decision-making. Next-generation sequencing (NGS) has become a mainstay in the evaluation of myeloid malignancies, as it enables efficient characterization of multiple genetic changes.
View Article and Find Full Text PDFCat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
April 2024
Article Synopsis
- - Cat Eye Syndrome (CES) is a rare genetic disorder linked to a marker chromosome from chromosome 22, leading to diverse symptoms including iris coloboma, anal atresia, and preauricular tags, but these are present in less than half of the cases.
- - An international study of 43 CES patients found that only 16% displayed all three classic symptoms, while 9% showed none; additional issues such as cardiac anomalies (51%) and intellectual disabilities (47%) were also common.
- - The study highlights the significance of supernumerary marker chromosomes (sSMC), found in 91% of cases, with many parents showing mild traits, emphasizing the need for genetic counseling regarding recurrence risks.
Canine babesiosis, caused by Babesia gibsoni is one of the most significant tick-borne illnesses across the world. Light microscopy as well as polymerase chain reaction may fail in the diagnosis of disease when the level of parasitaemia is very low during subclinical and chronic cases. The serological techniques using a recombinant protein will be useful for the accurate and sensitive surveillance of the disease, especially in chronic cases.
View Article and Find Full Text PDFMolecular detection of pathogens in the ova and unfed larvae of Rhipicephalus annulatus and Haemaphysalis bispinosa ticks infesting domestic cattle of south India.
Acta Trop
November 2022
This study aimed to investigate the presence of pathogens in the engorged ticks infesting domestic cattle, their ova, and unfed larvae. The engorged female ticks infesting domestic cattle of Wayanad district of Kerala, south India were collected and kept for oviposition. The dead females after the complete oviposition, their egg masses, and unfed larvae were screened for the presence of various pathogens by specific PCRs.
View Article and Find Full Text PDFBabesia gibsoni, the causative agent of canine piroplasmosis, is a tick-borne intraerythrocytic protozoan parasite predominantly reported in Asian countries. The present study aimed at genotypic characterization of B. gibsoni isolates prevalent in dogs in Kerala, a southern state of India.
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