Publications by authors named "W Pagarkar"
Article Synopsis
- Congenital cytomegalovirus (cCMV) is prevalent globally, with 85%-90% of infected infants showing no symptoms at birth, but 10%-15% may face issues like sensorineural hearing loss later on.
- A review of studies focused on the neurodevelopmental outcomes of asymptomatic cCMV (AcCMV) in children found that they generally performed better than symptomatic cCMV children, but the understanding of their long-term neurodevelopment is still unclear.
- Most studies showed AcCMV children had comparable outcomes to CMV-uninfected children, though limitations like a lack of control groups and inconsistent definitions hindered the findings; further research with standardized methods is needed.
Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.
Otolaryngol Head Neck Surg
November 2024
Objective: Establishing the cause of hearing loss (HL) is important and rewarding, though not without its challenges. While our ability to identify the etiology for HL has improved with advances in scientific knowledge, a significant proportion of cases remain of unknown etiology. Recent protocol changes within the NHS Genomic Medicine Service support the utilization of the HL gene panel test, rather than individual gene tests.
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- - Norrie disease, caused by mutations in the NDP gene, leads to congenital blindness and later hearing loss, making it crucial to protect patients' hearing to maintain their quality of life.
- - This study investigated cochlear structure and function in both affected humans and juvenile Ndp-mutant mice, revealing that cochlear vascular issues occur earlier than previously thought, triggering subsequent hearing loss and hair cell death.
- - The findings highlight the importance of early intervention in Norrie disease and establish Ndp-mutant mice as a valuable model for testing new therapies aimed at preventing hearing loss in affected individuals.
Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. Pathogenic variants in TRMT10C and SDR5C1 are associated with distinct recessive or x-linked infantile onset disorders, resulting from defects in mitochondrial RNA processing. We report four unrelated families with multisystem disease associated with bi-allelic variants in PRORP, the metallonuclease subunit of mt-RNase P.
View Article and Find Full Text PDFBackground: Brown-Vialetto-Van Laere syndrome, a rare disorder associated with motor, sensory and cranial nerve neuropathy, is caused by mutations in riboflavin transporter genes SLC52A2 and SLC52A3. Hearing loss is a characteristic feature of Brown-Vialetto-Van Laere syndrome and has been shown in recent studies to be characterised by auditory neuropathy spectrum disorder.
Method: This study reports the detailed audiovestibular profiles of four cases of Brown-Vialetto-Van Laere syndrome with SLC52A2 and SLC52A3 mutations.