Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Kaustuv Bhattacharya"'
Autor:
Monika Salkar, Meagen Rosenthal, Kaustuv Bhattacharya, Sujith Ramachandran, Marie Barnard, John Young, John P. Bentley
Publikováno v:
Health and Quality of Life Outcomes, Vol 22, Iss 1, Pp 1-10 (2024)
Abstract Background Previous studies have reported conflicting factor structures of the Coping Strategies Questionnaire - Sickle Cell Disease (CSQ-SCD). This study examined the psychometric properties of the CSQ-SCD among adults with SCD in the Unite
Externí odkaz:
https://doaj.org/article/4405691abcef48de9aa139da497ad55b
Autor:
Suzanne M. Nevin, Brittany C. McGill, Lauren Kelada, Gail Hilton, Megan Maack, Kristina L. Elvidge, Michelle A. Farrar, Gareth Baynam, Naomi T. Katz, Leigh Donovan, Sarah Grattan, Christina Signorelli, Kaustuv Bhattacharya, Kenneth Nunn, Claire E. Wakefield
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-32 (2023)
Abstract Background Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired sk
Externí odkaz:
https://doaj.org/article/7c83512c4cb844e78874ff664fe56e6c
Autor:
Louisa Adams, Arthavan Selvanathan, Kiera J. Batten, Nancy vanDoorn, Susan Thompson, Ashleigh Mitchell, Hugo Sampaio, Troy Dalkeith, Jacqui Russell, Carolyn J. Ellaway, Michelle Farrar, Carolyn Broderick, Kaustuv Bhattacharya
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 327-336 (2023)
Abstract Glycogen storage type V (GSD V—McArdle Syndrome) is a rare neuromuscular disorder characterised by severe pain early after the onset of physical activity. A recent series indicated a diagnostic delay of 29 years; hence reports of children
Externí odkaz:
https://doaj.org/article/e27165bca4124679b8211e8a3acaab33
Autor:
Natasha Heather, Ronda F. Greaves, Kaustuv Bhattacharya, Lawrence Greed, James Pitt, Carol Wai-Kwan Siu, Mark de Hora, Ricky Price, Enzo Ranieri, Tiffany Wotton, Dianne Webster
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 47 (2024)
A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found
Externí odkaz:
https://doaj.org/article/70b1748652df47b9b45550103cd1e7dd
Autor:
Yiran Rong, John P. Bentley, Kaustuv Bhattacharya, Yi Yang, Yunhee Chang, Sally Earl, Sujith Ramachandran
Publikováno v:
Cancer Medicine, Vol 13, Iss 1, Pp n/a-n/a (2024)
Abstract Background Immune checkpoint inhibitor (ICI) treatment has been linked to a variety of immune‐related adverse events (irAEs), which can affect any organ system. The incidence and risk factors of irAEs have not been adequately evaluated amo
Externí odkaz:
https://doaj.org/article/0383557ba346442dabf183fbffbcfa13
Autor:
Sujith Ramachandran, Kaustuv Bhattacharya, Benjamin F Banahan, Yiran Rong, Swarnali Goswami, Omokhodion Eriakha, John Bentley, Terri Kirby, Dennis Smith, Eric Pittman
Publikováno v:
BMJ Open, Vol 13, Iss 11 (2023)
Objective To assess if the antecedent statin use was associated with all-cause death among COVID-19 patients enrolled in Medicaid.Design Cohort study.Setting Mississippi Medicaid population.Participants This study included 10 792 Mississippi Medicaid
Externí odkaz:
https://doaj.org/article/a318bd6212fa4684a1c0f1acce75d7ce
Autor:
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 568-574 (2022)
Abstract 3‐Methylglutaconyl‐CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3‐methylglutaconate, with or without 3‐hydroxyisovalerate and 3‐methylglutarate. It is an ultra‐rare c
Externí odkaz:
https://doaj.org/article/39ec7e9c371b427494f411a4a81cdbda
Autor:
Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard deJong, Drago Bratkovic, Kaustuv Bhattacharya, Adviye Ayper Tolun, Bruce Bennetts, Katrina Fisk
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 271-275 (2022)
Abstract Ornithine transcarbamylase deficiency (OTCD) is an X‐linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%–90% of the causative variants
Externí odkaz:
https://doaj.org/article/8369048c96c14402aa1d899a83ae76a9
Autor:
Bindu Parayil Sankaran, Sachin Gupta, Michel Tchan, Beena Devanapalli, Yusof Rahman, Peter Procopis, Kaustuv Bhattacharya
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in
Externí odkaz:
https://doaj.org/article/ae0e69e797854fe5a5b73d0e5e8ba192
Autor:
Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams, Katherine Lewis, Adviye Ayper Tolun, Bruce Bennetts, Gladys Ho, Kaustuv Bhattacharya
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Non-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are exceptions
Externí odkaz:
https://doaj.org/article/a3aeb52c55d6400097248becbaff14a6