Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn112138-20240207-00102 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Poor bone health in Duchenne muscular dystrophy: a multifactorial problem beyond corticosteroids and loss of ambulation.
Front Endocrinol (Lausanne)
December 2024
Department of Orthopedics and Rehabilitation, University of Iowa, Iowa City, IA, United States.
Duchenne muscular dystrophy (DMD) is a progressive, fatal muscle wasting disease caused by X-linked mutations in the dystrophin gene. Alongside the characteristic muscle weakness, patients face a myriad of skeletal complications, including osteoporosis/osteopenia, high susceptibility to vertebral and long bone fractures, fat embolism post-fracture, scoliosis, and growth retardation. Those skeletal abnormalities significantly compromise quality of life and are sometimes life-threatening.
View Article and Find Full Text PDFPsychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.
Int J Neonatal Screen
October 2024
Department of Gynecology, Copenhagen University Hospital Rigshopitalet, 2100 Copenhagen, Denmark.
X-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder. Symptoms range from cerebral demyelination (cALD) to adrenal insufficiency and slowly progressive myeloneuropathy. cALD is fatal if not treated with hematopoietic cell transplantation in the early stages of the disease course.
View Article and Find Full Text PDFCerebral adrenoleukodystrophy presenting as status epilepticus: Unveiling the neurological maze.
Radiol Case Rep
January 2025
Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, India.
Article Synopsis
- A 7-year-old boy presented with severe seizures and neurological decline, initially showing symptoms like visual changes and cognitive deterioration over six months.
- MRI scans indicated white matter lesions and elevated serum levels of certain fatty acids, leading to a provisional diagnosis of X-linked cerebral adrenoleukodystrophy (ALD).
- Despite treatment, the patient's condition worsened to blindness and a vegetative state, underscoring the need for early diagnosis and intervention to manage ALD more effectively.
From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy.
Lipids Health Dis
November 2024
Department of Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder caused by ABCD1 mutations, resulting in the buildup of very-long-chain fatty acids, leading to significant neurological decline and adrenal insufficiency. Despite advancements in understanding the mechanisms of X-ALD, its pathophysiology remains incompletely understood, complicating the development of effective treatments. This review provides a comprehensive overview of X-ALD, with a focus on the genetic and biochemical roles of ABCD1 and the impacts of its mutations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!