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Article ; Online: The digital-human interface: an essential combination for clinical progress.

Savage, Martin O

2024

Language	English
Publishing date	2024-04-13
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000538896
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Paediatric Cushing's disease: long-term outcome and predictors of recurrence.

Savage, Martin O / Ferrigno, Rosario

Frontiers in endocrinology

2024 Volume 15, Page(s) 1345174

Abstract: Paediatric Cushing's disease (CD) is characterized by excess ACTH secretion from a pituitary adenoma, leading to hypercortisolism. It has approximately 5% of the incidence of adult CD and is a rare disorder in the paediatric age range. The four most ... ...

Abstract	Paediatric Cushing's disease (CD) is characterized by excess ACTH secretion from a pituitary adenoma, leading to hypercortisolism. It has approximately 5% of the incidence of adult CD and is a rare disorder in the paediatric age range. The four most specific presenting features of hypercortisolism are: change in facial appearance, weight gain, decreased linear growth and virilisation shown by advanced pubic hair for the stage of breast development or testicular volume. The main diagnostic priority is the demonstration of hypercortisolism followed by distinction between its ACTH-dependent and ACTH-independent origin, thus leading to identification of aetiology. All treatment options aim to resolve or control hypercortisolism. Consensus favours transsphenoidal (TSS) pituitary surgery with selective removal of the corticotroph adenoma. TSS in children with CD is now well established and induces remission in 70-100% of cases. External pituitary radiotherapy and bilateral adrenalectomy are second-line therapeutic approaches in subjects not responding to TSS. Long-term medical treatment is less frequently adopted. Recurrence in paediatric CD cases is low with factors predicting relapse being higher post-TSS cortisol and ACTH levels and rapid recovery of the hypothalamic-pituitary-adrenal axis after TSS. In summary, complete excision of the microadenoma with histological and biochemical evidence for this, predicts a low rate of recurrence of CD. Due to the need for rapid diagnosis and management to avoid the burden of prolonged exposure to hypercortisolism, tertiary university centres comprising both paediatric and adult endocrinology specialists together with experienced pituitary surgery and, eventually, radiotherapy units are recommended for referral of these patients.
MeSH term(s)	Adult ; Humans ; Child ; Pituitary ACTH Hypersecretion/diagnosis ; Pituitary ACTH Hypersecretion/surgery ; Hypothalamo-Hypophyseal System/metabolism ; Cushing Syndrome ; Neoplasm Recurrence, Local ; Pituitary-Adrenal System/metabolism ; Adenoma/pathology ; Adrenocorticotropic Hormone/metabolism
Chemical Substances	Adrenocorticotropic Hormone (9002-60-2)
Language	English
Publishing date	2024-01-22
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2024.1345174
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Artificial intelligence in paediatric endocrinology: conflict or cooperation.

Dimitri, Paul / Savage, Martin O

Journal of pediatric endocrinology & metabolism : JPEM

2024 Volume 37, Issue 3, Page(s) 209–221

Abstract: Artificial intelligence (AI) in medicine is transforming healthcare by automating system tasks, assisting in diagnostics, predicting patient outcomes and personalising patient care, founded on the ability to analyse vast datasets. In paediatric ... ...

Abstract	Artificial intelligence (AI) in medicine is transforming healthcare by automating system tasks, assisting in diagnostics, predicting patient outcomes and personalising patient care, founded on the ability to analyse vast datasets. In paediatric endocrinology, AI has been developed for diabetes, for insulin dose adjustment, detection of hypoglycaemia and retinopathy screening; bone age assessment and thyroid nodule screening; the identification of growth disorders; the diagnosis of precocious puberty; and the use of facial recognition algorithms in conditions such as Cushing syndrome, acromegaly, congenital adrenal hyperplasia and Turner syndrome. AI can also predict those most at risk from childhood obesity by stratifying future interventions to modify lifestyle. AI will facilitate personalised healthcare by integrating data from 'omics' analysis, lifestyle tracking, medical history, laboratory and imaging, therapy response and treatment adherence from multiple sources. As data acquisition and processing becomes fundamental, data privacy and protecting children's health data is crucial. Minimising algorithmic bias generated by AI analysis for rare conditions seen in paediatric endocrinology is an important determinant of AI validity in clinical practice. AI cannot create the patient-doctor relationship or assess the wider holistic determinants of care. Children have individual needs and vulnerabilities and are considered in the context of family relationships and dynamics. Importantly, whilst AI provides value through augmenting efficiency and accuracy, it must not be used to replace clinical skills.
MeSH term(s)	Child ; Humans ; Artificial Intelligence ; Pediatric Obesity ; Algorithms ; Endocrinology ; Insulin
Chemical Substances	Insulin
Language	English
Publishing date	2024-01-08
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	1231070-0
ISSN	2191-0251 ; 0334-018X
ISSN (online)	2191-0251
ISSN	0334-018X
DOI	10.1515/jpem-2023-0554
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Book ; Conference proceedings: Diagnosis and management of primary insulin like growth factor I deficiency

Savage, Martin O.

current perspectives and clinical update ; [derived from a symposium held on September 10, 2009 in conjunction with the 8th joint meeting of the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology in New York City]

(Pediatric endocrinology reviews ; 7, Suppl. 1)

2010

Title variant	Diagnosis and management of primary insulin-like growth factor-I deficiency
Author's details	guest ed.: Martin O. Savage
Series title	Pediatric endocrinology reviews ; 7, Suppl. 1
Collection
Language	English
Size	S. 153 - 171, VIII S. : Ill.
Publisher	YS Medical Media
Publishing place	Netanya
Publishing country	Israel
Document type	Book ; Conference proceedings
HBZ-ID	HT016358678
Database	Catalogue ZB MED Medicine, Health

In stock of ZB MED Cologne/Königswinter

Shelf mark	Loan status	Location
Zs A 6700 -7-	verfügbar in Königswinter	Königswinter

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Article: Editorial: Controversies in growth hormone treatment and diagnosis.

Rapaport, Robert / Savage, Martin O

Frontiers in endocrinology

2022 Volume 13, Page(s) 1013872

MeSH term(s)	Growth Disorders/diagnosis ; Human Growth Hormone/therapeutic use ; Humans
Chemical Substances	Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2022-09-13
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2022.1013872
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy.

Savage, Martin O / Storr, Helen L

Frontiers in endocrinology

2021 Volume 12, Page(s) 781044

Abstract: Idiopathic short stature (ISS) is a term used to describe a selection of short children for whom no precise aetiology has been identified. Molecular investigations have made notable discoveries in children with ISS, thus removing them from this category. ...

Abstract	Idiopathic short stature (ISS) is a term used to describe a selection of short children for whom no precise aetiology has been identified. Molecular investigations have made notable discoveries in children with ISS, thus removing them from this category. However, many, if not the majority of children referred with short stature, are designated ISS. Our interest in defects of GH action, i.e. GH resistance, has led to a study of children with mild GH resistance, who we believe can be mis-categorised as ISS leading to potential inappropriate management. Approval of ISS by the FDA for hGH therapy has resulted in many short children receiving this treatment. The results are extremely variable. It is therefore important to correctly assess and investigate all ISS subjects in order to identify those with mild but unequivocal GH resistance, as in cases of PAPP-A2 deficiency. The correct identification of GH resistance defects will direct therapy towards rhIGF-I rather than rhGH. This example illustrates the importance of recognition of GH resistance among the very large number patients referred with short stature who are labelled as 'ISS'.
MeSH term(s)	Body Height/drug effects ; Body Height/physiology ; Child ; Drug Resistance/drug effects ; Drug Resistance/physiology ; Growth Disorders/drug therapy ; Growth Disorders/genetics ; Growth Disorders/metabolism ; Human Growth Hormone/administration & dosage ; Human Growth Hormone/genetics ; Human Growth Hormone/metabolism ; Humans ; Insulin-Like Growth Factor I/genetics ; Insulin-Like Growth Factor I/metabolism ; Mutation/physiology ; Receptors, Somatotropin/genetics ; Receptors, Somatotropin/metabolism
Chemical Substances	IGF1 protein, human ; Receptors, Somatotropin ; Human Growth Hormone (12629-01-5) ; Insulin-Like Growth Factor I (67763-96-6)
Language	English
Publishing date	2021-12-10
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2021.781044
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Late-Onset Isolated Growth Hormone Deficiency.

Samuels, Julie G / Chimatapu, Sri Nikhita / Savage, Martin O / Rapaport, Robert

JCEM case reports

2023 Volume 1, Issue 2, Page(s) luad011

Abstract: Two male patients, who presented at 13.5 and 13.9 years of age with growth failure and short stature, were ultimately diagnosed with isolated growth hormone deficiency (GHD). Patient 1 was first evaluated when his height declined from -0.67 SD to -1.3 SD. ...

Abstract	Two male patients, who presented at 13.5 and 13.9 years of age with growth failure and short stature, were ultimately diagnosed with isolated growth hormone deficiency (GHD). Patient 1 was first evaluated when his height declined from -0.67 SD to -1.3 SD. He had a peak growth hormone (GH) concentration to GH stimulation test (GHST) of 16.9 ng/mL (16.9 μg/L) and remained untreated. As puberty advanced, his height decreased further to -1.65 SD. A second GHST while his serum testosterone was 79 ng/dL (2.74 nmol/L) had a peak GH of 5.4 ng/mL (5.4 μg/L), consistent with GHD. He was treated with GH for 4.8 years and reached adult height of 180.5 cm (0.57 SD), gaining 2.22 SDS. Patient 2, height -2.63 SD, had an unstimulated peak GH concentration of 19 ng/mL (19 μg/L). As puberty advanced, his height decreased further to -2.96 SD. Repeat peak GH concentration was 9.2 ng/mL (9.2 μg/L) when serum testosterone was 83.9 ng/dL (2.91 nmol/L). GH treatment resulted in rapid increase of height velocity from 1.8 cm/year to 11.3 cm/year in 6 months, consistent with GHD. Both patients demonstrate that GHD may develop over time and cannot be excluded by a single GHST. Longitudinal monitoring of children with poor growth as puberty progresses is essential to uncover GHD.
Language	English
Publishing date	2023-03-03
Publishing country	England
Document type	Case Reports
ISSN	2755-1520
ISSN (online)	2755-1520
DOI	10.1210/jcemcr/luad011
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Applying precision medicine to the diagnosis and management of endocrine disorders.

Bidlingmaier, Martin / Gleeson, Helena / Latronico, Ana-Claudia / Savage, Martin O

Endocrine connections

2022 Volume 11, Issue 10

Abstract: Precision medicine employs digital tools and knowledge of a patient's genetic makeup, environment and lifestyle to improve diagnostic accuracy and to develop individualised treatment and prevention strategies. Precision medicine has improved management ... ...

Abstract	Precision medicine employs digital tools and knowledge of a patient's genetic makeup, environment and lifestyle to improve diagnostic accuracy and to develop individualised treatment and prevention strategies. Precision medicine has improved management in a number of disease areas, most notably in oncology, and it has the potential to positively impact others, including endocrine disorders. The accuracy of diagnosis in young patients with growth disorders can be improved by using biomarkers. Insulin-like growth factor I (IGF-I) is the most widely accepted biomarker of growth hormone secretion, but its predictive value for recombinant human growth hormone treatment response is modest and various factors can affect the accuracy of IGF-I measurements. These factors need to be taken into account when considering IGF-I as a component of precision medicine in the management of growth hormone deficiency. The use of genetic analyses can assist with diagnosis by confirming the aetiology, facilitate treatment decisions, guide counselling and allow prompt intervention in children with pubertal disorders, such as central precocious puberty and testotoxicosis. Precision medicine has also proven useful during the transition of young people with endocrine disorders from paediatric to adult services when patients are at heightened risk of dropping out from medical care. An understanding of the likelihood of ongoing GH deficiency, using tools such as MRI, detailed patient history and IGF-I levels, can assist in determining the need for continued recombinant human growth hormone treatment during the process of transitional care.
Language	English
Publishing date	2022-09-02
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2668428-7
ISSN	2049-3614
ISSN	2049-3614
DOI	10.1530/EC-22-0177
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Article ; Online: Applying precision medicine to the diagnosis and management of endocrine disorders

Martin Bidlingmaier / Helena Gleeson / Ana-Claudia Latronico / Martin O Savage

Endocrine Connections, Vol 11, Iss 10, Pp 1-

2022 Volume 12

Abstract: Precision medicine employs digital tools and knowledge of a patient’s genetic makeup, environment and lifestyle to improve diagnostic accuracy and to develop individualised treatment and prevention strategies. Precision medicine has improved management ... ...

Abstract	Precision medicine employs digital tools and knowledge of a patient’s genetic makeup, environment and lifestyle to improve diagnostic accuracy and to develop individualised treatment and prevention strategies. Precision medicine has improved management in a number of disease areas, most notably in oncology, and it has the potential to positively impact others, including endocrine disorders. The accuracy of diagnosis in young patients with growth disorders can be improved by using biomarkers. Insulin-like growth factor I (IGF-I) is the most widely accepted biomarker of growth hormone secretion, but its predictive value for recombinant human growth hormone treatment response is modest and various factors can affect the accuracy of IGF-I measurement s. These factors need to be taken into account when considering IGF-I as a component of precision medicine in the management of growth hormone deficiency. The use of genetic anal yses can assist with diagnosis by confirming the aetiology, facilitate treatment deci sions, guide counselling and allow prompt intervention in children with pubertal disorders, such as central precocious puberty and testotoxicosis. Precision medicine has also proven useful during the transition of young people with endocrine disorders from paediatric to adult services when patients are at heightened risk of dropping out from medical care. An understanding of the likelihood of ongoing GH deficiency, using tools such as MRI, de tailed patient history and IGF-I levels, can assist in determining the need for continued recombinant human growth hormone treatment during the process of transitional care.
Keywords	adolescent ; biomarkers ; child ; early diagnosis ; endocrine diagnosis ; genetic testing ; growth hormone ; precocious puberty ; precision medicine ; transitional care ; Diseases of the endocrine glands. Clinical endocrinology ; RC648-665
Subject code	610
Language	English
Publishing date	2022-09-01T00:00:00Z
Publisher	Bioscientifica
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress.

Savage, Martin O / Donaldson, Malcolm D C / Davies, Justin H / Storr, Helen L

Hormone research in paediatrics

2023 Volume 97, Issue 1, Page(s) 22–27

Abstract: Background: Paediatric endocrinology became recognised in Western European countries in the 1960s and 1970s. It is now a thriving paediatric sub-speciality in many countries but remains non-existent or in its infancy in others. We have had the privilege ...

Abstract	Background: Paediatric endocrinology became recognised in Western European countries in the 1960s and 1970s. It is now a thriving paediatric sub-speciality in many countries but remains non-existent or in its infancy in others. We have had the privilege to work in Western centres of excellence, and this review outlines the key stages in the development of modern centres, discussing the human and organisational issues that have underpinned progress in the establishment of this paediatric sub-speciality. Summary: Human determination, vision, and ambition to create a modern centre and become a national flag bearer in the field are key components of success. The realisation that learning by spending time as a fellow away from one's home institution, so that knowledge can be acquired and brought back home, is also a key factor. Career structures should be designed to mentor and guide the trainee returning from a fellowship abroad. Scientific societies such as the European Society for Paediatric Endocrinology (ESPE) are key resources for networking, support, and discussion with experienced colleagues who may have faced similar challenges. Training and acquisition of knowledge through on-site or e-learning initiatives are beneficial and numerous examples exist, including the telemedicine model of store-and-forward consultations. Leadership skills can be learnt, and good working relationships with adult endocrinology colleagues result in benefits and political support. Key messages: The development of paediatric endocrinology in a region with hitherto no such facilities constitutes a major contribution to local, regional, and, in all likelihood, national patient care.
MeSH term(s)	Child ; Humans ; Endocrinology ; Pediatrics ; Specialization
Language	English
Publishing date	2023-04-25
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000530841
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