We report on the first two Caucasian families with the MODY3 HNF-1alpha mutation Tyr218Cys. Clinical and laboratory examinations are shown in detail. Patients with HNF-1alpha related MODY may develop the full spectrum of diabetic complications. Therefore, early detection of family members with MODY3 is warranted.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1055/s-2007-955099 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An MRI assessment of mechanisms underlying lesion growth and shrinkage in multiple sclerosis.
Ann Clin Transl Neurol
January 2025
NMR Research Unit, Queen Square Multiple Sclerosis Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Objective: To assess the pathological mechanisms contributing to white matter (WM) lesion expansion or contraction and remyelination in multiple sclerosis (MS).
Methods: We assessed 1,613 lesions in 49 people with relapsing-remitting MS in the CCMR-One bexarotene trial (EudraCT 2014-003145-99). We measured lesion orientation relative to WM tracts, surface-in gradients and veins.
Cross-Sectional Comparison of Structural MRI Markers of Impairment in a Diverse Cohort of Older Adults.
Hum Brain Mapp
February 2025
Department of Neurology, Washington University in St. Louis, St. Louis, Missouri, USA.
Neurodegeneration is presumed to be the pathological process measure most proximal to clinical symptom onset in Alzheimer Disease (AD). Structural MRI is routinely collected in research and clinical trial settings. Several quantitative MRI-based measures of atrophy have been proposed, but their low correspondence with each other has been previously documented.
View Article and Find Full Text PDFExploring the Role of Communication Asset Mapping (CAM) as a Strategy to Promote Hereditary Cancer Risk Assessment Information Within African American Communities.
Int J Environ Res Public Health
January 2025
Department of Behavioral Science and Health Equity, College for Public Health and Social Justice, Saint Louis University, Saint Louis, MO 63103, USA.
: African Americans (AAs) carry the largest burden for almost every type of cancer in the US and are also more likely to die from cancer. Approximately 10% of cancers can be explained by a hereditary factor and detected earlier. Many AAs, however, have inequitable access to hereditary cancer risk assessment (HCRA) tools and information, further exacerbating disparities in cancer rates.
View Article and Find Full Text PDFExploring Trusted Sources of HPV Vaccine Information Among Mexican American Parents in El Paso, Texas.
Int J Environ Res Public Health
January 2025
Department of Pharmaceutical Sciences, School of Pharmacy, University of Texas at El Paso, El Paso, TX 79968, USA.
Hispanic populations are disproportionately impacted by HPV-associated cancers. An HPV vaccine is available that protects against 90% of HPV-associated cancers. Understanding the factors associated with HPV vaccine uptake, including identifying whom individuals trust to recommend the HPV vaccine, is an important step toward developing public health interventions for promoting the HPV vaccine among Hispanic people.
View Article and Find Full Text PDFOutpatient Low-Dose Initiation of Buprenorphine for People Using Fentanyl.
JAMA Netw Open
January 2025
San Francisco Department of Public Health, San Francisco, California.
Importance: The rise of high-potency opioids such as fentanyl makes buprenorphine initiation challenging due to the risks of precipitated withdrawal, prompting the exploration of strategies, such as low-dose initiation (LDI) of buprenorphine. However, no comparative studies on LDI outcomes exist.
Objective: To evaluate outpatient outcomes associated with 2 LDI protocols of buprenorphine among individuals with opioid use disorder (OUD) using fentanyl.
Want 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!