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Book: Sickle cell disease in clinical practice

Howard, Jo / Telfer, Paul

(In clinical practice)

2015

Author's details	Jo Howard ; Paul Telfer
Series title	In clinical practice
Keywords	Sickle cell anemia--Treatment
Subject code	616.152706
Language	English
Size	XXIII, 287 S. : Ill., graph. Darst., 24 cm
Publisher	Springer
Publishing place	London u.a.
Publishing country	Great Britain
Document type	Book
HBZ-ID	HT018587720
ISBN	978-1-4471-2472-6 ; 9781447124733 ; 1-4471-2472-3 ; 1447124731
Database	Catalogue ZB MED Medicine, Health

In stock of ZB MED Cologne/Königswinter

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2015 A 1065	available for loan (reading room)	Lesesaal EG

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Article ; Online: Haematopoietic stem cell health in sickle cell disease and its implications for stem cell therapies and secondary haematological disorders.

Gorur, Vishaka / Kranc, Kamil R / Ganuza, Miguel / Telfer, Paul

Blood reviews

2023 Volume 63, Page(s) 101137

Abstract: Gene modification of haematopoietic stem cells (HSCs) is a potentially curative approach to sickle cell disease (SCD) and offers hope for patients who are not eligible for allogeneic HSC transplantation. Current approaches require in vitro manipulation ... ...

Abstract	Gene modification of haematopoietic stem cells (HSCs) is a potentially curative approach to sickle cell disease (SCD) and offers hope for patients who are not eligible for allogeneic HSC transplantation. Current approaches require in vitro manipulation of healthy autologous HSC prior to their transplantation. However, the health and integrity of HSCs may be compromised by a variety of disease processes in SCD, and challenges have emerged in the clinical trials of gene therapy. There is also concern about increased susceptibility to haematological malignancies during long-term follow up of patients, and this raises questions about genomic stability in the stem cell compartment. In this review, we evaluate the evidence for HSC deficits in SCD and then discuss their potential causation. Finally, we suggest several questions which need to be addressed in order to progress with successful HSC manipulation for gene therapy in SCD.
MeSH term(s)	Humans ; Anemia, Sickle Cell/therapy ; Anemia, Sickle Cell/pathology ; Hematopoietic Stem Cells/pathology ; Hematologic Diseases ; Stem Cell Transplantation ; Hematopoietic Stem Cell Transplantation/adverse effects
Language	English
Publishing date	2023-10-13
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	639015-8
ISSN	1532-1681 ; 0268-960X
ISSN (online)	1532-1681
ISSN	0268-960X
DOI	10.1016/j.blre.2023.101137
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Zs.A 2207: Show issues

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Article ; Online: The acute pain crisis in sickle cell disease: What can be done to improve outcomes?

Telfer, Paul / Anie, Kofi A / Kotsiopoulou, Stella / Aiken, Laura / Hibbs, Stephen / Burt, Carol / Stuart-Smith, Sara / Lugthart, Sanne

Blood reviews

2024 Volume 65, Page(s) 101194

Abstract: The acute pain crisis (APC) is the commonest complication of sickle cell disease (SCD). Severe episodes may require treatment in hospital with strong opioid analgesic drugs, combined with additional supportive care measures. Guidelines for APC management ...

Abstract	The acute pain crisis (APC) is the commonest complication of sickle cell disease (SCD). Severe episodes may require treatment in hospital with strong opioid analgesic drugs, combined with additional supportive care measures. Guidelines for APC management have been produced over the past two decades gathering evidence from published studies, expert opinion, and patient perspective. Unfortunately, reports from multiple sources indicate that guidelines are often not followed, and that acute care in emergency departments and on acute medical wards is suboptimal. It is important to understand what leads to this breakdown in health care, and to identify evidence-based interventions which could be implemented to improve care. This review focuses on recently published articles as well as information about on-going clinical trials. Aspects of care which could potentially make a difference to patient experience include availability and accessibility of individual care plans agreed between patient and treating specialist, innovative means of delivering initial opioids to reduce time to first analgesia, and availability of a specialist unit away from the ED, where expert care can be delivered in a more compassionate environment. The current evidence of improved outcomes and health economic advantage with these interventions is inadequate, and this is hampering their implementation into health care systems.
MeSH term(s)	Humans ; Acute Pain/diagnosis ; Acute Pain/etiology ; Acute Pain/therapy ; Pain Management/adverse effects ; Analgesics, Opioid/therapeutic use ; Anemia, Sickle Cell/therapy ; Anemia, Sickle Cell/drug therapy
Chemical Substances	Analgesics, Opioid
Language	English
Publishing date	2024-03-19
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	639015-8
ISSN	1532-1681 ; 0268-960X
ISSN (online)	1532-1681
ISSN	0268-960X
DOI	10.1016/j.blre.2024.101194
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Article: A multi-environment framework to evaluate the adaptation of wheat (Triticum aestivum) to heat stress

Telfer, Paul / Edwards, James / Taylor, Julian / Able, Jason A. / Kuchel, Haydn

Theoretical and applied genetics. 2022 Apr., v. 135, no. 4

2022

Abstract: KEY MESSAGE: Assessing adaptation to abiotic stresses such as high temperature conditions across multiple environments presents opportunities for breeders to target selection for broad adaptation and specific adaptation. Adaptation of wheat to heat ... ...

Abstract	KEY MESSAGE: Assessing adaptation to abiotic stresses such as high temperature conditions across multiple environments presents opportunities for breeders to target selection for broad adaptation and specific adaptation. Adaptation of wheat to heat stress is an important component of adaptation in variable climates such as the cereal producing areas of Australia. However, in variable climates stress conditions may not be present in every season or are present to varying degrees, at different times during the season. Such conditions complicate plant breeders’ ability to select for adaptation to abiotic stress. This study presents a framework for the assessment of the genetic basis of adaptation to heat stress conditions with improved relevance to breeders’ selection objectives. The framework was applied here with the evaluation of 1225 doubled haploid lines from five populations across six environments (three environments selected for contrasting temperature stress conditions during anthesis and grain fill periods, over two consecutive seasons), using regionally best practice planting times to evaluate the role of heat stress conditions in genotype adaptation. Temperature co-variates were determined for each genotype, in each environment, for the anthesis and grain fill periods. Genome-wide QTL analysis identified performance QTL for stable effects across all environments, and QTL that illustrated responsiveness to heat stress conditions across the sampled environments. A total of 199 QTL were identified, including 60 performance QTL, and 139 responsiveness QTL. Of the identified QTL, 99 occurred independent of the 21 anthesis date QTL identified. Assessing adaptation to heat stress conditions as the combination of performance and responsiveness offers breeders opportunities to select for grain yield stability across a range of environments, as well as genotypes with higher relative yield in stress conditions.
Keywords	Triticum aestivum ; filling period ; flowering ; genotype ; grain yield ; haploidy ; heat stress ; temperature ; wheat ; Australia
Language	English
Dates of publication	2022-04
Size	p. 1191-1208.
Publishing place	Springer Berlin Heidelberg
Document type	Article
ZDB-ID	2170-2
ISSN	1432-2242 ; 0040-5752
ISSN (online)	1432-2242
ISSN	0040-5752
DOI	10.1007/s00122-021-04024-5
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: A multi-environment framework to evaluate the adaptation of wheat (Triticum aestivum) to heat stress.

Telfer, Paul / Edwards, James / Taylor, Julian / Able, Jason A / Kuchel, Haydn

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik

2022 Volume 135, Issue 4, Page(s) 1191–1208

Abstract: Key message: Assessing adaptation to abiotic stresses such as high temperature conditions across multiple environments presents opportunities for breeders to target selection for broad adaptation and specific adaptation. Adaptation of wheat to heat ... ...

Abstract	Key message: Assessing adaptation to abiotic stresses such as high temperature conditions across multiple environments presents opportunities for breeders to target selection for broad adaptation and specific adaptation. Adaptation of wheat to heat stress is an important component of adaptation in variable climates such as the cereal producing areas of Australia. However, in variable climates stress conditions may not be present in every season or are present to varying degrees, at different times during the season. Such conditions complicate plant breeders' ability to select for adaptation to abiotic stress. This study presents a framework for the assessment of the genetic basis of adaptation to heat stress conditions with improved relevance to breeders' selection objectives. The framework was applied here with the evaluation of 1225 doubled haploid lines from five populations across six environments (three environments selected for contrasting temperature stress conditions during anthesis and grain fill periods, over two consecutive seasons), using regionally best practice planting times to evaluate the role of heat stress conditions in genotype adaptation. Temperature co-variates were determined for each genotype, in each environment, for the anthesis and grain fill periods. Genome-wide QTL analysis identified performance QTL for stable effects across all environments, and QTL that illustrated responsiveness to heat stress conditions across the sampled environments. A total of 199 QTL were identified, including 60 performance QTL, and 139 responsiveness QTL. Of the identified QTL, 99 occurred independent of the 21 anthesis date QTL identified. Assessing adaptation to heat stress conditions as the combination of performance and responsiveness offers breeders opportunities to select for grain yield stability across a range of environments, as well as genotypes with higher relative yield in stress conditions.
MeSH term(s)	Adaptation, Physiological/genetics ; Edible Grain/genetics ; Genotype ; Heat-Shock Response ; Phenotype ; Quantitative Trait Loci ; Triticum/genetics
Language	English
Publishing date	2022-01-20
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2170-2
ISSN	1432-2242 ; 0040-5752
ISSN (online)	1432-2242
ISSN	0040-5752
DOI	10.1007/s00122-021-04024-5
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Article ; Online: Optimizing the care model for an uncomplicated acute pain episode in sickle cell disease.

Telfer, Paul / Kaya, Banu

Hematology. American Society of Hematology. Education Program

2017 Volume 2017, Issue 1, Page(s) 525–533

Abstract: The pathophysiology, clinical presentation, and natural history of acute pain in sickle cell disease are unique and require a disease-centered approach that also applies general principles of acute and chronic pain management. The majority of acute pain ... ...

Abstract	The pathophysiology, clinical presentation, and natural history of acute pain in sickle cell disease are unique and require a disease-centered approach that also applies general principles of acute and chronic pain management. The majority of acute pain episodes are managed at home without the need to access health care. The long-term consequences of poorly treated acute pain include chronic pain, adverse effects of chronic opioid usage, psychological maladjustment, poor quality of life, and excessive health care utilization. There is no standard protocol for management of an acute pain crisis in either the hospital or the community. The assumptions that severe acute pain must be managed in the hospital with parenteral opioids and that strong opioids are needed for home management of pain need to be questioned. Pain management in the emergency department often does not meet acceptable standards, while chronic use of strong opioids is likely to result in opioid-induced hyperalgesia, exacerbation of chronic pain symptoms, and opioid dependency. We suggest that an integrated approach is needed to control the underlying condition, modify psychological responses, optimize social support, and ensure that health care services provide safe, effective, and prompt treatment of acute pain and appropriate management of chronic pain. This integrated approach should begin at an early age and continue through the adolescent, transition, and adult phases of the care model.
MeSH term(s)	Acute Pain/psychology ; Acute Pain/therapy ; Adolescent ; Adult ; Analgesics, Opioid/adverse effects ; Analgesics, Opioid/therapeutic use ; Anemia, Sickle Cell/psychology ; Anemia, Sickle Cell/therapy ; Humans ; Pain Management/methods ; Pain Management/standards ; Psychosocial Support Systems
Chemical Substances	Analgesics, Opioid
Language	English
Publishing date	2017-12-06
Publishing country	United States
Document type	Journal Article ; Review
ISSN	1520-4383
ISSN (online)	1520-4383
DOI	10.1182/asheducation-2017.1.525
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Genetic solutions through breeding counteract climate change and secure barley production in Australia

He, Tianhua / Angessa, Tefera / Hill, Camilla B. / Zhang, Xiao-Qi / Telfer, Paul / Westcott, Sharon / Li, Chengdao

Crop design. 2022 June, v. 1, no. 1

2022

Abstract: Climate changes threaten global sustainable food supply by reducing crop yield. Estimates of future crop production under climate change have rarely considered the capacity of genetic improvement in breeding high-yielding and stress-tolerant crop ... ...

Abstract	Climate changes threaten global sustainable food supply by reducing crop yield. Estimates of future crop production under climate change have rarely considered the capacity of genetic improvement in breeding high-yielding and stress-tolerant crop varieties. We believe that technological advancements and developing climate-resilient crop varieties may offset the adverse effects of climate change. In this study, we examined the historical record of barley breeding and yield, and the trends of climate changes over the past 70 years in Australia. We related the selection of fast development varieties to yield improvement, and revealed the genetic connections of fast development and yield potential through genome-wide association studies. Historical records show that Australia's barley yield has experienced a steady growth despite that the seasonal production window has been shortened due to increased risk of frost damage at flowering stage and terminal heat during maturity since the 1970s. The increase in yield is largely the result of higher yield capacity of the more recently developed varieties that develop faster to counteract the impact of increased terminal heat. We also show that the changing temperature may soon reach a critical point that dramatically changes the barley flowering behaviour to impact yield by pushing its growth beyond the seasonal production window to face increasing frost damage. For the first time, we provide evidence that the effects of climate change on crop production might be less severe than what is currently believed because the advancement of technologies and development of climate-resilient crop varieties may mitigate the adverse effect of climate change to some extent. The greater use of genetic techniques in crop breeding will play a vital role in sustainable global food production in the era of climate change.
Keywords	adverse effects ; barley ; climate ; climate change ; design ; food availability ; food production ; frost injury ; genetic improvement ; heat ; historical records ; risk ; temperature ; Australia
Language	English
Dates of publication	2022-06
Publishing place	Elsevier B.V.
Document type	Article
ISSN	2772-8994
DOI	10.1016/j.cropd.2021.12.001
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Update on survival in thalassemia major.

Telfer, Paul

Hemoglobin

2009 Volume 33 Suppl 1, Page(s) S76–80

Abstract: Long-term follow-up of cohorts of patients treated in high-income countries has shown a progressive improvement in life expectancy. Myocardial toxicity from iron overload has been the major cause of mortality; however, there has been a substantial ... ...

Abstract	Long-term follow-up of cohorts of patients treated in high-income countries has shown a progressive improvement in life expectancy. Myocardial toxicity from iron overload has been the major cause of mortality; however, there has been a substantial decline in cardiac deaths in recent years, related to switching high-risk patients from subcutaneous desferrioxamine to chelation regimes which include the oral chelator deferiprone. The role of deferasirox in enhancing life expectancy is yet to be determined, but it is reasonable to expect an improvement compared with past experience with desferrioxamine. Other causes of mortality will become an increasingly important issue for older thalassemic patients: Surveillance, prophylaxis, and prompt treatment of infection remains essential, and chronic hepatitis virus infection should be managed with best available current therapies. More data on follow-up of thalassemic patients in middle income countries are needed to demonstrate a similar trend in improved survival. The life expectancy for those in low-income countries is similar to the situation 50 years ago in Europe and the United States. The global thalassemia and public health community should consider how to respond to this disparity.
MeSH term(s)	Benzoates/therapeutic use ; Deferoxamine/therapeutic use ; Follow-Up Studies ; Humans ; Iron Chelating Agents/therapeutic use ; Pyridones/therapeutic use ; Survival Rate ; Treatment Outcome ; Triazoles/therapeutic use ; beta-Thalassemia/drug therapy ; beta-Thalassemia/economics ; beta-Thalassemia/mortality
Chemical Substances	Benzoates ; Iron Chelating Agents ; Pyridones ; Triazoles ; deferiprone (2BTY8KH53L) ; Deferoxamine (J06Y7MXW4D) ; deferasirox (V8G4MOF2V9)
Language	English
Publishing date	2009
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	750615-6
ISSN	1532-432X ; 0363-0269
ISSN (online)	1532-432X
ISSN	0363-0269
DOI	10.3109/03630260903347336
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Article ; Online: The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers.

Hossain, Mohammad Sorowar / Mahbub Hasan, Md / Petrou, Mary / Telfer, Paul / Mosabbir, Abdullah Al

Orphanet journal of rare diseases

2021 Volume 16, Issue 1, Page(s) 315

Abstract: Background: Thalassaemia, a hereditary haemoglobin disorder, is a major public health concern in some parts of the world. Although Bangladesh is in the world's thalassaemia belt, the information on this disease is scarce. Additionally, the awareness of ... ...

Abstract	Background: Thalassaemia, a hereditary haemoglobin disorder, is a major public health concern in some parts of the world. Although Bangladesh is in the world's thalassaemia belt, the information on this disease is scarce. Additionally, the awareness of this life threatening, but potentially preventable disease is surprisingly poor. However, mass awareness is pivotal for the development of an effective preventive strategy. In this context, the understanding of parental perspectives is essential to grasp the magnitude of the problem. Therefore, this study aimed to investigate the parental knowledge gaps and perceptions regarding thalassemia, the barriers confronted by the parents for caring for their thalassaemic children and their attitude to prenatal screening and prenatal diagnosis. Methods: This cross-sectional study was conducted between January 2018 and December 2018 at a dedicated thalassemia hospital located in Dhaka. A structured questionnaire was used for face-to-face interviews with parents of thalassaemic children. Descriptive statistics were used to analyse data. Results: Of 365 respondents, nearly all respondents (97%) had not heard about the term, 'thalassemia' before the disease was diagnosed in their children; all (100%) were unscreened for carrier status prior to marriage. Mean knowledge scores were significantly higher in respondents with higher income and education. Most respondents (~ 91%) had a guilty feeling for not undergoing premarital screening. Only around 36% of them had heard about prenatal diagnosis. Approximately 25% participants would consider prenatal diagnosis in a future pregnancy, while 70% of them were unsure and only ~ 5% would decline prenatal diagnosis. Only 9.3% mothers had prenatal diagnosis in a previous pregnancy. Nearly 80% of the parents faced difficulty for obtaining blood donors regularly and a similar proportion (~ 81%) of them did not receive support from any organized blood clubs. More than 40% of the parents reported they felt socially stigmatized. Conclusion: This study suggests poor parental knowledge regarding thalassaemia including prenatal diagnosis and the challenges faced while caring for their children. These findings would be of paramount importance in planning and devising effective prevention and intervention strategies in Bangladesh as well as other countries with similar sociocultural setting.
MeSH term(s)	Bangladesh/epidemiology ; Child ; Cross-Sectional Studies ; Emotions ; Female ; Health Knowledge, Attitudes, Practice ; Humans ; Parents ; Pregnancy ; Prenatal Diagnosis ; Thalassemia/diagnosis ; Thalassemia/epidemiology
Language	English
Publishing date	2021-07-16
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-021-01947-6
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Article ; Online: Salvage of refractory post-transfusion hyperhaemolysis by targeting hyperinflammation and macrophage activation with tocilizumab.

Chen, Frederick / Booth, Catherine / Barroso, Filipa / Bennett, Sarah / Kaya, Banu / Win, Nay / Telfer, Paul

Transfusion medicine (Oxford, England)

2021 Volume 32, Issue 5, Page(s) 437–440

MeSH term(s)	Antibodies, Monoclonal, Humanized/pharmacology ; Antibodies, Monoclonal, Humanized/therapeutic use ; Hemolysis ; Humans ; Macrophage Activation ; Transfusion Reaction
Chemical Substances	Antibodies, Monoclonal, Humanized ; tocilizumab (I031V2H011)
Language	English
Publishing date	2021-05-27
Publishing country	England
Document type	Letter
ZDB-ID	1067989-3
ISSN	1365-3148 ; 0958-7578
ISSN (online)	1365-3148
ISSN	0958-7578
DOI	10.1111/tme.12793
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