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The Pediatric Growth Hormone Deficiency Patient Journey: Identifying Opportunities for Digital Health Interventions.
Stud Health Technol Inform
November 2024
Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.
Article Synopsis
- * A patient journey map, created from secondary data analysis of interviews with patients and caregivers across multiple European countries, outlines six stages: awareness, diagnosis, treatment planning, initiation, maintenance, and transition.
- * This first comprehensive PGHD patient journey map highlights emotional challenges at each stage and suggests opportunities for improved interventions to enhance patient adherence and overall health outcomes.
Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.
PLoS One
October 2024
Department of Child Neurology, Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Article Synopsis
- NKX2-1 is a critical transcription factor linked to rare disorders that cause thyroid, lung, and brain issues, with early diagnosis being key for effective treatment.
- This systematic review analyzes the effectiveness of Levothyroxine (LT4) treatment for NKX2-1-related disorders, focusing on congenital hypothyroidism, treatment initiation, and dosage variations.
- Findings reveal that congenital hypothyroidism is common in these patients, yet LT4 is initiated in only 10%, with significant reliance on age at diagnosis affecting treatment outcomes.
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.
PLoS One
July 2024
Department of Child Neurology, Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Article Synopsis
- * A systematic review analyzed 1012 studies, ultimately including 46 that focused on screening and diagnosing endocrine issues related to NKX2-1-RD in patients, revealing that 45% had congenital hypothyroidism.
- * The findings indicated inconsistent diagnostic practices, with a significant number of patients diagnosed in adulthood and a need for standardized screening and diagnostic procedures for better management of endocrine disorders associated with NKX2-1-RD.
Pitfalls of diagnosing pituitary hypoplasia in the patients with short stature.
Endocrine
October 2024
Division of Pediatric Endocrinology and Metabolism, Celal Bayar University, Faculty of Medicine, Manisa, Turkey.
Purpose: Height age (HA) and bone age (BA) delay is well known in the patients with short stature. Therefore assessing pituitary hypoplasia based on chronological age (CA) might cause overdiagnosis of pituitary hypoplasia. We aimed to investigate the diagnostic and prognostic value of the PH and PV based on CA, HA, or BA in the patients with GHD.
View Article and Find Full Text PDFTrends of correlations between serum levels of growth hormone and insulin-like growth factor-I in general practice.
Front Endocrinol (Lausanne)
April 2024
Department of General Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Serum levels of growth hormone (GH) and insulin-like growth factor (IGF)-I are crucial in the diagnosis and management of GH-related diseases. However, these levels are affected by nutritional and metabolic status. To elucidate the correlations between GH and IGF-I in various conditions, a retrospective analysis was performed for adult patients in which GH levels were examined by general practitioners during the period from January 2019 to December 2021.
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