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5. Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

Author

Ademi, Zanfina, Ardill, Justin J, Barnett, Wendy, Bates, Timothy R, Beilin, Lawrence J, Bishop, Warrick, Black, J Andrew, Brown, Alex, Burnett, John R, Bursill, Christina A, Colley, Alison, Clifton, Peter M, Ekinci, Elif I, Figtree, Gemma A, Forge, Brett H, Garton-Smith, Jacquie, Graham, Dorothy F, Hamilton-Craig, Ian, Hamilton-Craig, Christian R, Heal, Clare, Hespe, Charlotte M, Hooper, Amanda J, Howes, Laurence G, Ingles, Jodie, Janus, Edward D, Kangaharan, Nadarajah, Keech, Anthony C, Kirke, Andrew B, Kritharides, Leonard, Kyle, Campbell V, Lacaze, Paul, Li, Stephen CH, Maticevic, Stjepana, McQuillan, Brendan M, Mirzaee, Sam, Mori, Trevor A, Morton, Allison C, Colquhoun, David M, Moullin, Joanna C, Nestel, Paul J, Nowak, Kristen J, O'Brien, Richard C, Pachter, Nicholas, Page, Michael M, Psaltis, Peter J, Radford, Jan, Reid, Nicola J, Robertson, Elizabeth N, Ryan, Jacqueline DM, Sarkies, Mitchell N, Schultz, Carl J, Scott, Russell S, Semsarian, Christopher, Simons, Leon A, Spinks, Catherine, Tonkin, Andrew M, van Bockxmeer, Frank, Waddell-Smith, Kathryn E, Ward, Natalie C, White, Harvey D, Wilson, Andrew M, Winship, Ingrid, Woodward, Ann Marie, Nicholls, Stephen J, Brett, Peter, Elias, Luke, Malan, Wynand, Irvin, John, Lambert, Kirsten, Pedrotti, Annette, Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., and Pang, Jing

Published
2021
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6. Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Author

Ademi, Zanfina, Ardill, Justin J., Barnett, Wendy, Bates, Timothy R., Beilin, Lawrence J., Bishop, Warrick, Black, J. Andrew, Brett, Peter, Brown, Alex, Burnett, John R., Bursill, Christina A., Colley, Alison, Clifton, Peter M., Ekinci, Elif I., Elias, Luke, Figtree, Gemma A., Forge, Brett H., Garton-Smith, Jacquie, Graham, Dorothy F., Hamilton-Craig, Ian, Hamilton-Craig, Christian R., Heal, Clare, Hespe, Charlotte M., Hooper, Amanda J., Howes, Laurence G., Ingles, Jodie, Irvin, John, Janus, Edward D., Kangaharan, Nadarajah, Keech, Anthony C., Kirke, Andrew B., Kritharides, Leonard, Kyle, Campbell V., Lacaze, Paul, Lambert, Kirsten, Li, Stephen C.H., Malan, Wynand, Maticevic, Stjepana, McQuillan, Brendan M., Mirzaee, Sam, Mori, Trevor A., Morton, Allison C., Colquhoun, David M., Moullin, Joanna C., Nestel, Paul J., Nowak, Kristen J., O'Brien, Richard C., Pachter, Nicholas, Page, Michael M., Pedrotti, Annette, Psaltis, Peter J., Radford, Jan, Reid, Nicola J., Robertson, Elizabeth N., Ryan, Jacqueline D.M., Sarkies, Mitchell N., Schultz, Carl J., Scott, Russell S., Semsarian, Christopher, Simons, Leon A., Spinks, Catherine, Tonkin, Andrew M., van Bockxmeer, Frank, Waddell-Smith, Kathryn E., Ward, Natalie C., White, Harvey D., Wilson, Andrew M., Winship, Ingrid, Woodward, Ann Marie, Nicholls, Stephen J., Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., and Pang, Jing

Published
2021
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8. Outcomes of growth hormone treatment in children with Prader–Willi syndrome over a 30-year period: a single tertiary center experience.

Author

Gamage, Dilhara S., Ambler, Geoffrey, Chan, Albert, Srinivasan, Shubha, Maguire, Ann M., and Cho, Yoon Hi

Abstract

Clinical benefits of growth hormone (GH) in Prader–Willi syndrome (PWS) are proven and scoliosis is a known association of both PWS and GH therapy. The aims of this study were to assess GH prescribing practices and growth outcomes over time, the prevalence and predictors of scoliosis in GH-treated PWS children, and the near-final height of GH-treated PWS patients. This is a retrospective, descriptive study evaluating data from all clinic visits of patients aged 0–18 years with PWS, seen through the Children's Hospital at Westmead between March 1992 and May 2022 (n=75). A total of 64 patients were treated with GH (visits = 1,414). In the recent decade, the diagnosis of PWS and GH commencement were made significantly earlier in life. The prevalence of scoliosis was 41 %, in which age was the only significant predictor for scoliosis (odds ratio 1.19: 95 % CI [1.08–1.31; p=0.001]) adjusted for other predictors. In patients with data available at the age 16 years (23/28 treated with GH), those who were GH treated had significantly higher height SDS vs. nontreated group (SDS −0.67 vs. −2.58; p=0.0001) and lower BMI SDS (1.18 vs. 2.37; p<0.001). Significant improvements in growth and body composition were seen in the GH-treated group vs. non-treated group of children with PWS. There were no significant modifiable clinical predictors of scoliosis in children with PWS, but our findings confirm the high prevalence of scoliosis in GH-treated children with PWS reinforcing the need for close surveillance. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective

Author

Watts, Gerald F., primary, Sullivan, David R., additional, Hare, David L., additional, Kostner, Karam M., additional, Horton, Ari E., additional, Bell, Damon A., additional, Brett, Tom, additional, Trent, Ronald J., additional, Poplawski, Nicola K., additional, Martin, Andrew C., additional, Srinivasan, Shubha, additional, Justo, Robert N., additional, Chow, Clara K., additional, Pang, Jing, additional, Ademi, Zanfina, additional, Ardill, Justin J, additional, Barnett, Wendy, additional, Bates, Timothy R, additional, Beilin, Lawrence J, additional, Bishop, Warrick, additional, Black, J Andrew, additional, Brown, Alex, additional, Burnett, John R, additional, Bursill, Christina A, additional, Colley, Alison, additional, Clifton, Peter M, additional, Ekinci, Elif I, additional, Figtree, Gemma A, additional, Forge, Brett H, additional, Garton-Smith, Jacquie, additional, Graham, Dorothy F, additional, Hamilton-Craig, Ian, additional, Hamilton-Craig, Christian R, additional, Heal, Clare, additional, Hespe, Charlotte M, additional, Hooper, Amanda J, additional, Howes, Laurence G, additional, Ingles, Jodie, additional, Janus, Edward D, additional, Kangaharan, Nadarajah, additional, Keech, Anthony C, additional, Kirke, Andrew B, additional, Kritharides, Leonard, additional, Kyle, Campbell V, additional, Lacaze, Paul, additional, Li, Stephen CH, additional, Maticevic, Stjepana, additional, McQuillan, Brendan M, additional, Mirzaee, Sam, additional, Mori, Trevor A, additional, Morton, Allison C, additional, Colquhoun, David M, additional, Moullin, Joanna C, additional, Nestel, Paul J, additional, Nowak, Kristen J, additional, O'Brien, Richard C, additional, Pachter, Nicholas, additional, Page, Michael M, additional, Psaltis, Peter J, additional, Radford, Jan, additional, Reid, Nicola J, additional, Robertson, Elizabeth N, additional, Ryan, Jacqueline DM, additional, Sarkies, Mitchell N, additional, Schultz, Carl J, additional, Scott, Russell S, additional, Semsarian, Christopher, additional, Simons, Leon A, additional, Spinks, Catherine, additional, Tonkin, Andrew M, additional, van Bockxmeer, Frank, additional, Waddell-Smith, Kathryn E, additional, Ward, Natalie C, additional, White, Harvey D, additional, Wilson, Andrew M, additional, Winship, Ingrid, additional, Woodward, Ann Marie, additional, Nicholls, Stephen J, additional, Brett, Peter, additional, Elias, Luke, additional, Malan, Wynand, additional, Irvin, John, additional, Lambert, Kirsten, additional, and Pedrotti, Annette, additional

Published
2021
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17. Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: An Australian perspective

Author

Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., Pang, Jing, Ademi, Zanfina, Ardill, Justin J., Barnett, Wendy, Bates, Timothy R., Beilin, Lawrence J., Bishop, Warrick, Black, J. Andrew, Brown, Alex, Burnett, John R., Bursill, Christina A., Colley, Alison, Clifton, Peter M., Ekinci, Elif I., Figtree, Gemma A., Forge, Brett H., Garton-Smith, Jacquie, Graham, Dorothy F., Hamilton-Craig, Ian, Hamilton-Craig, Christian R., Heal, Clare, Hespe, Charlotte M., Hooper, Amanda J., Howes, Laurence G., Ingles, Jodie, Janus, Edward D., Kangaharan, Nadarajah, Keech, Anthony C., Kirke, Andrew B., Kritharides, Leonard, Kyle, Campbell V., Lacaze, Paul, Li, Stephen C. H., Maticevic, Stjepana, McQuillan, Brendan M., Mirzaee, Sam, Mori, Trevor A., Morton, Allison C., Colquhoun, David M., Moullin, Joanna C., Nestel, Paul J., Nowak, Kristen J., O'Brien, Richard C., Pachter, Nicholas, Page, Michael M., Psaltis, Peter J., Radford, Jan, Reid, Nicola J., Robertson, Elizabeth N., Ryan, Jacqueline D. M., Sarkies, Mitchell N., Schultz, Carl J., Scott, Russell S., Semsarian, Christopher, Simons, Leon A., Spinks, Catherine, Tonkin, Andrew M., van Bockxmeer, Frank, Waddell-Smith, Kathryn E., Ward, Natalie C., White, Harvey D., Wilson, Andrew M., Winship, Ingrid, Woodward, Ann Marie, Nicholls, Stephen J., Brett, Peter, Elias, Luke, Malan, Wynand, Irvin, John, Lambert, Kirsten, Pedrotti, Annette, FH Australasia Network Consensus Working Group, Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., Pang, Jing, Ademi, Zanfina, Ardill, Justin J., Barnett, Wendy, Bates, Timothy R., Beilin, Lawrence J., Bishop, Warrick, Black, J. Andrew, Brown, Alex, Burnett, John R., Bursill, Christina A., Colley, Alison, Clifton, Peter M., Ekinci, Elif I., Figtree, Gemma A., Forge, Brett H., Garton-Smith, Jacquie, Graham, Dorothy F., Hamilton-Craig, Ian, Hamilton-Craig, Christian R., Heal, Clare, Hespe, Charlotte M., Hooper, Amanda J., Howes, Laurence G., Ingles, Jodie, Janus, Edward D., Kangaharan, Nadarajah, Keech, Anthony C., Kirke, Andrew B., Kritharides, Leonard, Kyle, Campbell V., Lacaze, Paul, Li, Stephen C. H., Maticevic, Stjepana, McQuillan, Brendan M., Mirzaee, Sam, Mori, Trevor A., Morton, Allison C., Colquhoun, David M., Moullin, Joanna C., Nestel, Paul J., Nowak, Kristen J., O'Brien, Richard C., Pachter, Nicholas, Page, Michael M., Psaltis, Peter J., Radford, Jan, Reid, Nicola J., Robertson, Elizabeth N., Ryan, Jacqueline D. M., Sarkies, Mitchell N., Schultz, Carl J., Scott, Russell S., Semsarian, Christopher, Simons, Leon A., Spinks, Catherine, Tonkin, Andrew M., van Bockxmeer, Frank, Waddell-Smith, Kathryn E., Ward, Natalie C., White, Harvey D., Wilson, Andrew M., Winship, Ingrid, Woodward, Ann Marie, Nicholls, Stephen J., Brett, Peter, Elias, Luke, Malan, Wynand, Irvin, John, Lambert, Kirsten, Pedrotti, Annette, and FH Australasia Network Consensus Working Group

Abstract

Introduction Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practice recommendations are presented in an abridged guidance to assist practitioners in enhancing the care of all patients with FH. Main recommendations Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. There is a key role for general practitioners (GPs) working in collaboration with specialists with expertise in lipidology. Advice is given on genetic and cholesterol testing and risk notification of biological relatives undergoing cascade testing for FH; all healthcare professionals should develop skills in genomic medicine. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors, and appropriate use of low-density lipoprotein (LDL)-cholesterol lowering therapies, including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. Recommendations on service design are provided in the full guidance. Potential impact on care of FH These recommendations need to be utilised using judicious clinical judgement and shared decision making with patients and families. Models of care need to be adapted to both local and regional needs and resources. In Australia new government funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of these recommendations. A broad implementation science strategy is, however, required to ensure that the guidance translates into benefit for all families with FH.

Published
2021

18. Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia

Author

Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., Pang, Jing, Ademi, Zanfina, Ardill, Justin J., Barnett, Wendy, Bates, Timothy R., Beilin, Lawrence J., Bishop, Warrick, Black, J. Andrew, Brett, Peter, Brown, Alex, Burnett, John R., Bursill, Christina A., Colley, Alison, Clifton, Peter M., Ekinci, Elif I., Elias, Luke, Figtree, Gemma A., Forge, Brett H., Garton-Smith, Jacquie, Graham, Dorothy F., Hamilton-Craig, Ian, Hamilton-Craig, Christian R., Heal, Clare, Hespe, Charlotte M., Hooper, Amanda J., Howes, Laurence G., Ingles, Jodie, Irvin, John, Janus, Edward D., Kangaharan, Nadarajah, Keech, Anthony C., Kirke, Andrew B., Kritharides, Leonard, Kyle, Campbell V., Lacaze, Paul, Lambert, Kirsten, Li, Stephen C. H., Malan, Wynand, Maticevic, Stjepana, McQuillan, Brendan M., Mirzaee, Sam, Mori, Trevor A., Morton, Allison C., Colquhoun, David M., Moullin, Joanna C., Nestel, Paul J., Nowak, Kristen J., O'Brien, Richard C., Pachter, Nicholas, Page, Michael M., Pedrotti, Annette, Psaltis, Peter J., Radford, Jan, Reid, Nicola J., Robertson, Elizabeth N., Ryan, Jacqueline D. M., Sarkies, Mitchell N., Schultz, Carl J., Scott, Russell S., Semsarian, Christopher, Simons, Leon A., Spinks, Catherine, Tonkin, Andrew M., van Bockxmeer, Frank, Waddell-Smith, Kathryn E., Ward, Natalie C., White, Harvey D., Wilson, Andrew M., Winship, Ingrid, Woodward, Ann Marie, Nicholls, Stephen J., FH Australasia Network Consensus Working Group, Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., Pang, Jing, Ademi, Zanfina, Ardill, Justin J., Barnett, Wendy, Bates, Timothy R., Beilin, Lawrence J., Bishop, Warrick, Black, J. Andrew, Brett, Peter, Brown, Alex, Burnett, John R., Bursill, Christina A., Colley, Alison, Clifton, Peter M., Ekinci, Elif I., Elias, Luke, Figtree, Gemma A., Forge, Brett H., Garton-Smith, Jacquie, Graham, Dorothy F., Hamilton-Craig, Ian, Hamilton-Craig, Christian R., Heal, Clare, Hespe, Charlotte M., Hooper, Amanda J., Howes, Laurence G., Ingles, Jodie, Irvin, John, Janus, Edward D., Kangaharan, Nadarajah, Keech, Anthony C., Kirke, Andrew B., Kritharides, Leonard, Kyle, Campbell V., Lacaze, Paul, Lambert, Kirsten, Li, Stephen C. H., Malan, Wynand, Maticevic, Stjepana, McQuillan, Brendan M., Mirzaee, Sam, Mori, Trevor A., Morton, Allison C., Colquhoun, David M., Moullin, Joanna C., Nestel, Paul J., Nowak, Kristen J., O'Brien, Richard C., Pachter, Nicholas, Page, Michael M., Pedrotti, Annette, Psaltis, Peter J., Radford, Jan, Reid, Nicola J., Robertson, Elizabeth N., Ryan, Jacqueline D. M., Sarkies, Mitchell N., Schultz, Carl J., Scott, Russell S., Semsarian, Christopher, Simons, Leon A., Spinks, Catherine, Tonkin, Andrew M., van Bockxmeer, Frank, Waddell-Smith, Kathryn E., Ward, Natalie C., White, Harvey D., Wilson, Andrew M., Winship, Ingrid, Woodward, Ann Marie, Nicholls, Stephen J., and FH Australasia Network Consensus Working Group

Abstract

Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits

Published
2021

23. Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Author

Watts, Gerald F., primary, Sullivan, David R., additional, Hare, David L., additional, Kostner, Karam M., additional, Horton, Ari E., additional, Bell, Damon A., additional, Brett, Tom, additional, Trent, Ronald J., additional, Poplawski, Nicola K., additional, Martin, Andrew C., additional, Srinivasan, Shubha, additional, Justo, Robert N., additional, Chow, Clara K., additional, Pang, Jing, additional, Ademi, Zanfina, additional, Ardill, Justin J., additional, Barnett, Wendy, additional, Bates, Timothy R., additional, Beilin, Lawrence J., additional, Bishop, Warrick, additional, Black, J. Andrew, additional, Brett, Peter, additional, Brown, Alex, additional, Burnett, John R., additional, Bursill, Christina A., additional, Colley, Alison, additional, Clifton, Peter M., additional, Ekinci, Elif I., additional, Elias, Luke, additional, Figtree, Gemma A., additional, Forge, Brett H., additional, Garton-Smith, Jacquie, additional, Graham, Dorothy F., additional, Hamilton-Craig, Ian, additional, Hamilton-Craig, Christian R., additional, Heal, Clare, additional, Hespe, Charlotte M., additional, Hooper, Amanda J., additional, Howes, Laurence G., additional, Ingles, Jodie, additional, Irvin, John, additional, Janus, Edward D., additional, Kangaharan, Nadarajah, additional, Keech, Anthony C., additional, Kirke, Andrew B., additional, Kritharides, Leonard, additional, Kyle, Campbell V., additional, Lacaze, Paul, additional, Lambert, Kirsten, additional, Li, Stephen C.H., additional, Malan, Wynand, additional, Maticevic, Stjepana, additional, McQuillan, Brendan M., additional, Mirzaee, Sam, additional, Mori, Trevor A., additional, Morton, Allison C., additional, Colquhoun, David M., additional, Moullin, Joanna C., additional, Nestel, Paul J., additional, Nowak, Kristen J., additional, O'Brien, Richard C., additional, Pachter, Nicholas, additional, Page, Michael M., additional, Pedrotti, Annette, additional, Psaltis, Peter J., additional, Radford, Jan, additional, Reid, Nicola J., additional, Robertson, Elizabeth N., additional, Ryan, Jacqueline D.M., additional, Sarkies, Mitchell N., additional, Schultz, Carl J., additional, Scott, Russell S., additional, Semsarian, Christopher, additional, Simons, Leon A., additional, Spinks, Catherine, additional, Tonkin, Andrew M., additional, van Bockxmeer, Frank, additional, Waddell-Smith, Kathryn E., additional, Ward, Natalie C., additional, White, Harvey D., additional, Wilson, Andrew M., additional, Winship, Ingrid, additional, Woodward, Ann Marie, additional, and Nicholls, Stephen J., additional

Published
2021
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24. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Author

Gloyn, Anna L., Slingerland, Annabelle S., Pearson, Ewan R., Srinivasan, Shubha, Antcliff, Jennifer F., Molnes, Janne, Proks, Peter, Frayling, Timothy M., Bruining, G. Jan, and Shield, Julian P.H.

Subjects
Infants (Newborn) -- Diseases, Infants (Newborn) -- Causes of, Gene mutations -- Research, Potassium channels -- Research, Diabetes -- Causes of
Abstract

The study conducted to find out the causes of neonatal diabetes is presented. The study reveals that Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and can also be associated with muscle weakness and epilepsy.

Published
2004

26. Genetic testing in cardiovascular disease.

Author

Martin, Andrew C, Horton, Ari E, and Srinivasan, Shubha

Abstract

The article discusses the importance of genetic testing in cardiovascular disease, specifically focusing on familial hypercholesterolaemia. It highlights that this condition is common in Australia, with many individuals, including children, being undiagnosed and at risk of premature coronary artery disease. The authors emphasize the need for early detection and treatment of familial hypercholesterolaemia in childhood to prevent cardiovascular complications and improve outcomes. They suggest universal screening of children and newborns, along with early initiation of lipid-lowering therapy, as key strategies to address this treatable pediatric disorder and reduce the burden of cardiovascular disease. [Extracted from the article]

Published
2024
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27. Integrated guidance to enhance the care of children and adolescents with familial hypercholesterolaemia: Practical advice for the community clinician.

Author

Horton, Ari E, Martin, Andrew C, Srinivasan, Shubha, Justo, Robert N, Poplawski, Nicola K, Sullivan, David, Brett, Tom, Chow, Clara K, Nicholls, Stephen J, Pang, Jing, and Watts, Gerald F

Abstract

Familial hypercholesterolaemia (FH) is a highly penetrant monogenic disorder present from birth that markedly elevates plasma low‐density lipoprotein (LDL)‐cholesterol (LDL‐C) concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). At a prevalence of 1:250 individuals, with over 90% undiagnosed, recent estimates suggest that there are approximately 22 000 children and adolescents with FH in Australia and New Zealand. However, the overwhelming majority remain undetected and inadequately treated until adulthood or after their first cardiac event. The guidance in this paper aims to increase awareness about paediatric FH and provide practical advice for the diagnosis and management of FH in children and adolescents. Recommendations are given on the detection, diagnosis, assessment and management of FH in children and adolescents. Recommendations are also made on genetic testing, including counselling and the potential for universal screening programmes. Practical guidance on management includes treatment of non‐cholesterol risk factors, and safe and appropriate use of LDL‐C lowering therapies, including statins, ezetimibe, PCSK9 inhibitors and lipoprotein apheresis. Models of care for FH need to be adapted to local and regional health care needs and available resources. Targeting the detection of FH as a priority in children and young adults has the potential to alter the natural history of atherosclerotic cardiovascular disease and recognise the promise of early detection for improving long‐term health outcomes. A comprehensive implementation strategy, informed by further research, including assessments of cost–benefit, will be required to ensure that this new guidance benefits all families with or at risk of FH. [ABSTRACT FROM AUTHOR]

Published
2022
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34. Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.

Author

Watts, Gerald F., Sullivan, David R., Hare, David L., Kostner, Karam M., Horton, Ari E., Bell, Damon A., Brett, Tom, Trent, Ronald J., Poplawski, Nicola K., Martin, Andrew C., Srinivasan, Shubha, Justo, Robert N., Chow, Clara K., and Pang, Jing

Subjects
STATINS (Cardiovascular agents), ANTILIPEMIC agents, FAMILIAL hypercholesterolemia, PHYSICIAN-patient relations, MEDICAL personnel, GENETIC testing, CORONARY disease, MEDICAL protocols, EZETIMIBE, PATIENTS' families, RISK assessment, QUALITY assurance, DECISION making, HEALTH behavior, PHYSICIANS, PATIENT compliance, MEDICAL needs assessment, BEHAVIOR modification, DISEASE risk factors, ADULTS, ADOLESCENCE
Abstract

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Management is under‐pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non‐cholesterol risk factors and appropriate use of low‐density lipoprotein (LDL)‐cholesterol‐lowering therapies including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. The recommendations need to be utilised using judicious clinical judgement and shared decision‐making with patients and families. New government‐funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of the recommendations. However, a comprehensive implementation science and practice strategy is required to ensure that the guidance translates into benefit for all families with FH. [ABSTRACT FROM AUTHOR]

Published
2021
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35. Erratum: Global disorders of sex development update since 2006: perceptions, approach and care (Hormone Research in Paediatrics (2016) 85 (158-180) DOI: 10.1159/000442975)

Author

Lee, Peter A., Nordenström, Anna, Houk, Christopher P., Ahmed, S. Faisal, Auchus, Richard, Baratz, Arlene, Dalke, Katharine Baratz, Liao, Lih-Mei, Lin-Su, Karen, Looijenga, Leendert H. J., Mazur, Tom, Meyer-Bahlburg, Heino F. L., Mouriquand, Pierre, Quigley, Charmian A., Sandberg, David E., Vilain, Eric, Witchel, Selma, Ansermet, Francois, Baker, Linda, Belgorovsky, Alicia V., Baskin, Larry, Berenbaum, Sheri A., Bouvattier, Claire, Braga, Luis, Caldamone, Anthony, Callens, Nina, Charmandari, Evangelia, Chigiti, John M., Cohen-Kettenis, Peggy T., Conte, Felix, Cools, Martine, Conway, Gerard S., Davis, Georgiann, Delimata, Natalie, Drop, Stenvert L. S., Duranteau, Lise, Ediati, Annastasia, Fluck, Christa, Garland, Jameson, Gay, Claire-Lise, el Ghoneimi, Alaa, Gillam, Lynn, Gorduza, Daniela, di Grazia, Massimo, Green, Janet, Guerra, Gil, Hensle, Terry, Hines, Melissa, Hoebeke, Piet, Horikawa, Reiko, Kaefer, Martin, Kaggwa, Julius Kaganzi, Karkazis, Katrina, Kolon, Tom, Kalfa, Nicolas, Lee, Mary M., Lesma, Arianna, Loke, Kah Yin, Manzoni, Gianantonio, Marrocco, Giacinto, Merlini, Emilio, Moore, Jim, Muscarella, Miriam B., Nordenskjold, Agneta, Salle, Joao L. Pippi, Poppas, Dix Phillip, Ransley, Philip, Roen, Katrina, Rivarola, Marco, Rey, Rodolfo, Rigamonti, Waifro, Rink, Richard, Romao, Rodrigo, Rossi, Wilma, Sann, Leon, Schober, Justine M., Sibai, Hisham, Smith, Arlene, Srinivasan, Shubha, Sudai, Maayan, Sultan, Sajid, Vogiatzi, Maria, Walker, Jan, Warne, Gary, Wiesemann, Claudia, Wisniewski, Amy, and Zieselman, Kimberly

Abstract

In the appendix of the recent publication by Lee et al. entitled 'Global disorders of sex development update since 2006: perceptions, approach and care' [Horm Res Paediatr 2016;85:158–180, DOI: 10.1159/000442975], Massimo Di Grazia, Psychologist, is incorrectly mentioned to be from Cosenga, Italy. The correct city is Trieste, Italy.

Published
2016
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36. Additional file 2: Figure S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Author

Eggers, Stefanie, Sadedin, Simon, Bergen, Jocelyn Van Den, Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid, Tiong Tan, Cameron, Fergus, Werther, George, Hutson, John, O’Connell, Michele, Grover, Sonia, Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew, Srinivasan, Shubha, Titmuss, Angela, Verge, Charles, Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary, Makato Ono, Lafferty, Antony, Huynh, Tony, Visser, Uma, Choong, Catherine, McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth, Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin, Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard, Krausz, Csilla, Ravenswaaij-Arts, Conny Van, Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Achmad Juniarto, Vaman Khadilkar, Khadilkar, Anuradha, Vijayalakshmi Bhatia, Vũ Dũng, Irum Atta, Raza, Jamal, Nguyen Thi Diem Chi, Hao, Tran, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie, and Sinclair, Andrew

Subjects
3. Good health
Abstract

DSD gene variants in different global regions. DSD gene variants among the international cohort of 46,XY DSD patients. For ease of analysis, countries were grouped together into regions: Asia comprises Indonesia (97), Pakistan (25), Vietnam (35), Cambodia (16), India (1), a total of 174 patients ; Europe comprises the Netherlands (38), Austria (15), Belgium (6), and Italy (2), a total of 61 patients; and AUS & NZL comprises Australia (83) and New Zealand (7), a total of 90 patients. All curated variants are shown; those which have been curated and called pathogenic, likely pathogenic, and VUS. In the cohort from Asia, 35% of the patients were found to have a diagnostic variant (pathogenic or likely pathogenic), while this was 44% for Europe and 45% for AUS/NZL. Two patients from Canada were not included in the diagram. (PPTX 158 kb)

Published
2016
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37. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Author

Eggers, Stefanie, primary, Sadedin, Simon, additional, van den Bergen, Jocelyn A., additional, Robevska, Gorjana, additional, Ohnesorg, Thomas, additional, Hewitt, Jacqueline, additional, Lambeth, Luke, additional, Bouty, Aurore, additional, Knarston, Ingrid M., additional, Tan, Tiong Yang, additional, Cameron, Fergus, additional, Werther, George, additional, Hutson, John, additional, O’Connell, Michele, additional, Grover, Sonia R., additional, Heloury, Yves, additional, Zacharin, Margaret, additional, Bergman, Philip, additional, Kimber, Chris, additional, Brown, Justin, additional, Webb, Nathalie, additional, Hunter, Matthew F., additional, Srinivasan, Shubha, additional, Titmuss, Angela, additional, Verge, Charles F., additional, Mowat, David, additional, Smith, Grahame, additional, Smith, Janine, additional, Ewans, Lisa, additional, Shalhoub, Carolyn, additional, Crock, Patricia, additional, Cowell, Chris, additional, Leong, Gary M., additional, Ono, Makato, additional, Lafferty, Antony R., additional, Huynh, Tony, additional, Visser, Uma, additional, Choong, Catherine S., additional, McKenzie, Fiona, additional, Pachter, Nicholas, additional, Thompson, Elizabeth M., additional, Couper, Jennifer, additional, Baxendale, Anne, additional, Gecz, Jozef, additional, Wheeler, Benjamin J., additional, Jefferies, Craig, additional, MacKenzie, Karen, additional, Hofman, Paul, additional, Carter, Philippa, additional, King, Richard I., additional, Krausz, Csilla, additional, van Ravenswaaij-Arts, Conny M. A., additional, Looijenga, Leendert, additional, Drop, Sten, additional, Riedl, Stefan, additional, Cools, Martine, additional, Dawson, Angelika, additional, Juniarto, Achmad Zulfa, additional, Khadilkar, Vaman, additional, Khadilkar, Anuradha, additional, Bhatia, Vijayalakshmi, additional, Dũng, Vũ Chí, additional, Atta, Irum, additional, Raza, Jamal, additional, thi Diem Chi, Nguyen, additional, Hao, Tran Kiem, additional, Harley, Vincent, additional, Koopman, Peter, additional, Warne, Garry, additional, Faradz, Sultana, additional, Oshlack, Alicia, additional, Ayers, Katie L., additional, and Sinclair, Andrew H., additional

Published
2016
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42. Parathyroid adenomas – a cluster of boys

Author

Titmuss, Angela, primary, Srinivasan, Shubha, additional, Benitez-Aguirre, Paul, additional, Shun, Albert, additional, Maguire, Ann, additional, Munns, Craig, additional, Cowell, Chris, additional, Ambler, Geoff, additional, and Donaghue, Kim, additional

Published
2015
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43. Improved insulin sensitivity and body composition, irrespective of macronutrient intake, after a 12 month intervention in adolescents with pre-diabetes; RESIST a randomised control trial

Author

Garnett, Sarah P, primary, Gow, Megan, additional, Ho, Mandy, additional, Baur, Louise A, additional, Noakes, Manny, additional, Woodhead, Helen J, additional, Broderick, Carolyn R, additional, Chisholm, Kerryn, additional, Briody, Julie, additional, De, Sukanya, additional, Steinbeck, Katherine, additional, Srinivasan, Shubha, additional, Ambler, Geoffrey R, additional, and Cowell, Chris T, additional

Published
2014
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44. Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy

Author

Kozusko, Kristina, primary, Tsang, Venessa H.M., additional, Bottomley, William, additional, Cho, Yoon-Hi, additional, Gandotra, Sheetal, additional, Mimmack, Michael, additional, Lim, Koini, additional, Isaac, Iona, additional, Patel, Satish, additional, Saudek, Vladimir, additional, O’Rahilly, Stephen, additional, Srinivasan, Shubha, additional, Greenfield, Jerry R., additional, Barroso, Ines, additional, Campbell, Lesley V., additional, and Savage, David B., additional

Published
2014
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48. Challenges in management of abnormal thyroid function tests in unwell infants: A tertiary centre real‐world experience.

Author

Hobbs, Annabelle, Jack, Michelle, Benitez‐Aguirre, Paul, Srinivasan, Shubha, Wotton, Tiffany, and Cho, Yoon Hi

Subjects
*NEONATAL intensive care units, *THYROID gland function tests, *CONGENITAL hypothyroidism, *ELECTRONIC health records, *THYROID diseases
Abstract

Aim Methods Results Conclusion Abnormal thyroid function tests (TFTs) are found in a wide range of settings in hospitalised infants. This retrospective descriptive study reviewed management decisions and outcomes of these infants, identifying factors influencing clinicians' decision to treat with thyroxine.Data were collected for all infants referred to the on‐call endocrinology service at a tertiary Australian centre for thyroid dysfunction between 1 July 2019 and 30 June 2021. Electronic medical records were reviewed for birth and neonatal factors, TFTs, relevant investigations, treatment and disposition.Of 124 infants referred to the service over a 2‐year period, 43% (52 out of 120) were premature, with a high rate of comorbidities, including jaundice, hypoglycaemia, respiratory distress and cardiac anomalies. About 57% (69 out of 121) of referrals to the service were from neonatal intensive care units. Investigations to evaluate hypothyroidism included nuclear thyroid scans in 40% (46 out of 114) and ultrasound in 37% (41 out of 112). Levothyroxine treatment was initiated in 66% (77 out of 117) of infants, with 63% (73 out of 117) assigned a presumptive diagnosis of transient congenital hypothyroidism. At the end of the study period, 70% (54 out of 77) remained on thyroid replacement.Our study demonstrates the challenge clinicians face when deciding whether to treat premature and medically unwell infants with abnormal TFTs. Further prospective studies are required to determine predictors of permanent CH in this complex population. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Preservation of India's Intangible Cultural Heritage: The Case of Chhau Dance.

Author

Srinivasan, Shubha

Abstract

The article discusses the Chhau Dance, a form of traditional folk dancing in India, and examines the reasons why it is not practiced as much as it once was despite the fact it is considered a part of India's intangible cultural heritage (ICH). Topics discussed include the United Nations Educational, Scientific and Cultural Organization's (UNESCO) 2010 decision to grant ICH status to Chhau, cultural preservation attempts for the dance, and the economic conditions of dancers and teachers.

Published
2013

50. Additional file 2: Figure S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Author

Eggers, Stefanie, Sadedin, Simon, Bergen, Jocelyn Van Den, Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid, Tiong Tan, Cameron, Fergus, Werther, George, Hutson, John, O’Connell, Michele, Grover, Sonia, Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew, Srinivasan, Shubha, Titmuss, Angela, Verge, Charles, Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary, Makato Ono, Lafferty, Antony, Huynh, Tony, Visser, Uma, Choong, Catherine, McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth, Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin, Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard, Krausz, Csilla, Ravenswaaij-Arts, Conny Van, Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Achmad Juniarto, Vaman Khadilkar, Khadilkar, Anuradha, Vijayalakshmi Bhatia, Vũ Dũng, Irum Atta, Raza, Jamal, Nguyen Thi Diem Chi, Hao, Tran, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie, and Sinclair, Andrew

Subjects
3. Good health
Abstract

DSD gene variants in different global regions. DSD gene variants among the international cohort of 46,XY DSD patients. For ease of analysis, countries were grouped together into regions: Asia comprises Indonesia (97), Pakistan (25), Vietnam (35), Cambodia (16), India (1), a total of 174 patients ; Europe comprises the Netherlands (38), Austria (15), Belgium (6), and Italy (2), a total of 61 patients; and AUS & NZL comprises Australia (83) and New Zealand (7), a total of 90 patients. All curated variants are shown; those which have been curated and called pathogenic, likely pathogenic, and VUS. In the cohort from Asia, 35% of the patients were found to have a diagnostic variant (pathogenic or likely pathogenic), while this was 44% for Europe and 45% for AUS/NZL. Two patients from Canada were not included in the diagram. (PPTX 158 kb)

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