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http://dx.doi.org/10.1136/jnnp.21.2.73 | DOI Listing |
J Diabetes Complications
September 2024
Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran; Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran. Electronic address:
Aims: Multiple studies have addressed the association between detectable levels of C-peptide and glycemic control, as well as the development of chronic complications of type 1 diabetes mellitus (T1DM), including both macrovascular and microvascular diseases. We aimed to summarize the available evidence on the clinical significance of detectable levels of C-peptide in T1DM.
Method: A systematic search was performed on online databases using the following key terms: T1DM, C-peptide, diabetes mellitus complications, and glycemic parameters.
J Neuroophthalmol
January 2025
Department of Ophthalmology (JGJ-C, TE, Y-HC, LRD, RAG), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Frank H. Netter Medical School (JGJ-C), North Haven, Connecticut; and Department of Anesthesiology (DZ), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Background: Patients with craniosynostosis are at high risk of developing elevated intracranial pressure (ICP) causing papilledema and secondary optic atrophy. Diagnosing and monitoring optic neuropathy is challenging because of multiple causes of vision loss including exposure keratopathy, amblyopia, and cognitive delays that limit examination. Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are an optical coherence tomography (OCT) finding reported in association with papilledema and optic neuropathy.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
School of Public Health, Xinjiang Medical University, Urumqi, Xinjiang, China.
Objective: Diabetic neuropathy (DN), a common and debilitating complication of diabetes, significantly impairs the quality of life of affected individuals. While multiple studies have indicated changes in the expression of specific matrix metalloproteinases (MMPs) in patients with DN, and basic research has reported the impact of MMPs on DN, there is a lack of systematic research and the causal relationship remains unclear. The objective of this research is to investigate the casual relationship between MMPs and DN through two-sample Mendelian randomization (MR).
View Article and Find Full Text PDFCommun Med (Lond)
January 2025
Rare Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. There are no available targeted therapies for MSD.
Methods: We engineered a viral vector (AAV9/SUMF1) to deliver working copies of the SUMF1 gene and tested the vector in Sumf1 knock out mice that generally display a median lifespan of 10 days.
Cureus
December 2024
Dermatology, Temple University Hospital, Philadelphia, USA.
Leprosy is an uncommon chronic mycobacterial infection in the United States caused by . There are two major forms of the infection, lepromatous leprosy and tuberculoid leprosy, with borderline forms of each. Leprosy is even more uncommon in the Northeastern United States and can present with various symptoms and skin findings, including erythematous or hypopigmented patches or plaques with accompanying hypoesthesia or anesthesia, anhidrosis, or alopecia.
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