39 research outputs found
Novel De Novo Mutation in Sulfonylurea Receptor 1 Presenting as Hyperinsulinism in Infancy Followed by Overt Diabetes in Early Adolescence
OBJECTIVE—Congenital hyperinsulinism, usually associated with severe neonatal hypoglycemia, may progress to diabetes, typically during the 4th decade of life in nonpancreatectomized patients. We aimed to genotype the ATP-sensitive K+ channel in a 10.5-year-old girl presenting with overt diabetes following hyperinsulinism in infancy
Personalized Computer-Aided Diagnosis for Mild Cognitive Impairment in Alzheimer\u27s Disease Based on sMRI and C PiB-PET Analysis
© 2013 IEEE. Alzheimer\u27s disease (AD) is a neurodegenerative condition that affects the central nervous system and represents 60% to 70% of all dementia cases. Due to an increased aging population, the number of patients diagnosed with AD is expected to exceed 131 million worldwide by 2050. The disease is characterized by various clinical symptoms and pathological features that define three main sequential decline stages, namely, early/mild, intermediate/moderate and late/severe stages. Although it is considered irreversible, early diagnosis of AD is highly desirable to help preserve cognitive function. However, early diagnosis is difficult due to different factors, including the patient-specific development of AD. The main contribution of the proposed work is to present a personalized (i.e., local/brain regional) computer-aided diagnosis (CAD) system for early diagnosis of AD from two perspectives, functional and structural to assist diagnosis. In other words, the proposed system uniquely yields local/regional diagnosis by combining 11C PiB positron emission tomography (11C PiB PET), which provides functional diagnosis, with structural magnetic resonance imaging (sMRI), which provides structural diagnosis. To the best of our knowledge, this is the first work to combine sMRI and the 11C PiB PET for local/regional early diagnosis of AD. The system processes the two modalities through a number of steps: Pre-processing, brain labeling (parcellation), feature extraction, and diagnosis. A local/regional diagnosis is presented for each modality separately, followed by the final global diagnosis obtained by integrating the results from the two modalities. Evaluation of the proposed system shows average results of 97.5%, 100%, and 96.77% for accuracy, specificity, and sensitivity, respectively. With further development, it is envisioned that this system could contribute to the early diagnosis of AD in the clinical setting