Explanipedia

Adrenal causes of endocrine hypertension in childhood or adolescence Open

Bianca Pellegrini, Ilaria Bonaventura, Valeria Hasenmajer, Chiara Simeoli, Claudia Pivonello , et al. · 2025

Arterial hypertension is characterised by elevated blood pressure (BP) leading to cardiovascular morbidity and mortality, and organ damage. Its prevalence in childhood is around 5% and children should be screened from 3 years of age. Hyper…

Precocious puberty: a comprehensive review of diagnosis and clinical presentation, etiology, and treatment Open

Khomsak Srilanchakon, Vichit Supornsilchai, Suttipong Wacharasindhu, Martin O. Savage · 2025

Central precocious puberty (CPP) is characterized by early activation of the hypothalamic–pituitary–gonadal (HPG) axis, which is apparent in the form of breast development in girls and testicular enlargement in boys prior to the typical ph…

Editorial: Rare forms of pediatric adrenal disorders: beyond congenital adrenal hyperplasia due to 21-hydroxylase deficiency Open

Rosario Ferrigno, Mariacarolina Salerno, Martin O. Savage · 2024

Pharmacotherapy for complex substance use disorders: a practical guide by Thanh Thuy Truong, Benjamin Li, Daryl Shorter, Nidal Moukaddam, Thomas R. Kosten, American Psychiatric Association Publishing, 2023 Open

Eimear O’ Neill, Martin O. Savage · 2024

Use of connected injection device has a positive effect on catch-up growth in patients with growth disorders treated with growth hormone therapy Open

Antonio de Arriba Muñoz, Paula van Dommelen, Martin O. Savage · 2024

Introduction Human growth hormone (hGH) therapy in children can be administered by subcutaneous injection using either a manual non-connected device, which is a portable injection pen loaded with a pre-filled cartridge, or an electronic co…

Pediatric Cushing Syndrome: a unique account of a rare but important condition Open

Martin O. Savage · 2024

Evolving growth hormone deficiency: proof of concept Open

Sri Nikhita Chimatapu, Swathi Sethuram, Julie Samuels, Alexandra M. Klomhaus, Cassie Mintz , et al. · 2024

Introduction We present the evolution of GHD in adolescent males with persistent growth failure, in whom the diagnosis was established after a second GH stimulation test (GST). Methods We performed a retrospective chart review of children …

Paediatric Cushing’s disease: long-term outcome and predictors of recurrence Open

Martin O. Savage, Rosario Ferrigno · 2024

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…

Artificial intelligence in paediatric endocrinology: conflict or cooperation Open

Paul Dimitri, Martin O. Savage · 2024

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 paedi…

Acyclovir May Be Used to Treat Certain Long COVID Patients Regardless of Herpesvirus Reactivation: Case Report Open

D. Stewart, Martin O. Savage · 2024

Fundamental causes of long COVID or Post-Acute Sequelae of COVID-19 (PASC) are still under investigation while it remains a significant burden to millions of patients worldwide even after a relatively mild acute Coronavirus Disease 2019 (C…

P210 Is there a relationship between medicines adherence to inhaled treatment, inhaler device and awareness of sustainability issues in people with COPD? Open

Martin O. Savage, A Piwko, Asiya Ferdous, G d’Ancona · 2023

Introduction and Aims Reports suggest over 50% of people with COPD are non-adherent to their inhaled maintenance therapy. This can result in poorer clinical outcomes. Multiple device types can also negatively affect clinical outcomes by ca…

A New Era of Discovery: The 2023 Long-Range Plan for Nuclear Science (V.1.2) Open

C. Aidala, A. Aprahamian, Sonia Bacca, Paulo F. Bedaque, L. A. Bernstein , et al. · 2023

Nuclear science is the investigation of how protons and neutrons are formed from elementary particles and how the forces between those particles produce both nuclei and the vast variety of nuclear phenomena that occur in the universe. It h…

FRI598 Evolving Growth Hormone Deficiency: A Proof Of Concept Open

Sri Nikhita Chimatapu, Swathi Sethuram, Julie Samuels, Martin O. Savage, Robert Rapaport · 2023

Disclosure: S. Chimatapu: None. S. Sethuram: None. J. Samuels: None. M. Savage: None. R. Rapaport: None. Introduction: Most cases of growth hormone deficiency (GHD) in pediatric patients are idiopathic, isolated and acquired. All acquired …

Key Stages in the Development and Establishment of Paediatric Endocrinology: A Template for Future Progress Open

Martin O. Savage, Malcolm Donaldson, Justin H. Davies, Helen L. Storr · 2023

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 other…

Quantum Information Science and Technology for Nuclear Physics. Input into U.S. Long-Range Planning, 2023 Open

D. Beck, J. Carlson, Zohreh Davoudi, J. A. Formaggio, Sofia Quaglioni , et al. · 2023

In preparation for the 2023 NSAC Long Range Plan (LRP), members of the Nuclear Science community gathered to discuss the current state of, and plans for further leveraging opportunities in, QIST in NP research at the Quantum Information Sc…

Late-Onset Isolated Growth Hormone Deficiency Open

Julie Samuels, Sri Nikhita Chimatapu, Martin O. Savage, Robert Rapaport · 2023

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 −0.6…

Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia Open

Valeria Hasenmajer, Rosario Ferrigno, Marianna Minnetti, Bianca Pellegrini, Andrea M. Isidori , et al. · 2023

Adrenal insufficiency (AI) is a severe endocrine disorder characterized by insufficient glucocorticoid (GC) and/or mineralocorticoid (MC) secretion by the adrenal glands, due to impaired adrenal function (primary adrenal insufficiency, PAI…

Accelerating Progress Towards Practical Quantum Advantage: The Quantum Technology Demonstration Project Roadmap Open

Paul M. Alsing, Phil Battle, Joshua C. Bienfang, Tammie L. Borders, Tina Brower-Thomas , et al. · 2022

Quantum information science and technology (QIST) is a critical and emerging technology with the potential for enormous world impact and is currently invested in by over 40 nations. To bring these large-scale investments to fruition and br…

Editorial: Controversies in growth hormone treatment and diagnosis Open

Robert Rapaport, Martin O. Savage · 2022

EDITORIAL article Front. Endocrinol., 13 September 2022Sec. Pediatric Endocrinology https://doi.org/10.3389/fendo.2022.1013872

Applying precision medicine to the diagnosis and management of endocrine disorders Open

Martin Bidlingmaier, Helena Gleeson, Ana-Claudia Latronico, Martin O. Savage · 2022

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 improv…

The Changing Face of Paediatric Human Growth Hormone Therapy Open

Martin O. Savage · 2022

Human growth hormone (hGH) has been used therapeutically to promote growth in children for over 60 years. Pituitary-extracted hGH has demonstrated positive growth promotion since the early 1960s. In 1985, prion-induced contamination of hGH…

Evaluating the sensitivity and specificity of the UK and Dutch growth referral criteria in predicting the diagnosis of pathological short stature Open

Gemma White, Shakira Cosier, Afiya Andrews, Lee J. Martin, Ruben H. Willemsen , et al. · 2022

Objective The aim of this observational study was to evaluate the UK and Dutch referral criteria for short stature to determine their sensitivity and specificity in predicting pathological short stature. Adherence to the recommended panel …

Adherence to r-hGH Therapy in Pediatric Growth Hormone Deficiency: Current Perspectives on How Patient-Generated Data Will Transform r-hGH Treatment Towards Integrated Care Open

Martin O. Savage, Luis Fernández-Luque, Selina Graham, Paula van Dommelen, Matheus Araújo , et al. · 2022

Pediatric growth hormone (GH) deficiency is a licensed indication for replacement therapy with recombinant human growth hormone (r-hGH). Treatment, consisting of daily subcutaneous injections, extends from the time of diagnosis until cessa…

Patients' Perception of the Use of the EasyPod™ Growth Hormone Injector Device and Impact on Injection Adherence: A Multi-Center Regional Study Open

Asma Deeb, Saif Al-Yaarubi, Bassam Bin Abbas, Jamal Al Jubeh, Deepti Chaturvedi , et al. · 2022

Objective This study aimed to assess patient perceptions of the use of the EasyPod™ growth hormone delivery device and its association with compliance. Methods This cross-sectional, multicenter study was conducted in six centers from three…

Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches Open

Martin O. Savage, Helen L. Storr · 2021

Determining the pathogenesis of pediatric growth disorders is often challenging. In many cases, no pathogenesis is identified, and a designation of idiopathic short stature is used. The investigation of short stature requires a combination…

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

Martin O. Savage, Helen L. Storr · 2021

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…

Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care Open

Luis Fernández-Luque, Abdullah Al Herbish, Riyad Al Shammari, Jesús Argente, Bassam Bin‐Abbas , et al. · 2021

Digitalization of healthcare delivery is rapidly fostering development of precision medicine. Multiple digital technologies, known as telehealth or eHealth tools, are guiding individualized diagnosis and treatment for patients, and can con…

Growth Hormone Receptor <i>(GHR)</i> 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity Open

Emily Cottrell, Avinaash Maharaj, Jack Williams, Sumana Chatterjee, Grazia Cirillo , et al. · 2021

Context Severe forms of growth hormone insensitivity (GHI) are characterized by extreme short stature, dysmorphism, and metabolic anomalies. Objective This work aims to identify the genetic cause of growth failure in 3 “classical” GHI indi…

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes Open

Afiya Andrews, Avinaash Maharaj, Emily Cottrell, Sumana Chatterjee, Pratik Shah , et al. · 2021

Context Growth hormone insensitivity (GHI) in children is characterized by short stature, functional insulin-like growth factor (IGF)-I deficiency, and normal or elevated serum growth hormone (GH) concentrations. The clinical and genetic e…

Digital technologies to improve the precision of paediatric growth disorder diagnosis and management Open

Leo Dunkel, Luis Fernández-Luque, Sandro Loche, Martin O. Savage · 2021

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