Results 61 to 70 of about 1,403 (143)
Deep-learning models improve on community-level diagnosis for common congenital heart disease lesions [PDF]
arXiv, 2018 Prenatal diagnosis of tetralogy of Fallot (TOF) and hypoplastic left heart syndrome (HLHS), two serious congenital heart defects, improves outcomes and can in some cases facilitate in utero interventions. In practice, however, the fetal diagnosis rate for these lesions is only 30-50 percent in community settings. Improving fetal diagnosis of congenital
arxiv
American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.Abstract Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated.
Venuja Sriretnakumar +3 more
wiley +1 more source
Polish Journal of Pathology, 2017 Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological
Adam M. Kowalewski +3 more
doaj +1 more source
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
JIMD Reports, 2020 Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej +10 more
doaj +1 more source
Topology-preserving augmentation for CNN-based segmentation of congenital heart defects from 3D paediatric CMR [PDF]
arXiv, 2019 Patient-specific 3D printing of congenital heart anatomy demands an accurate segmentation of the thin tissue interfaces which characterise these diagnoses. Even when a label set has a high spatial overlap with the ground truth, inaccurate delineation of these interfaces can result in topological errors.
arxiv
Diabetes/Metabolism Research and Reviews, Volume 40, Issue 5, July 2024.Abstract Aims Asians have a high prevalence of young‐onset diabetes, but the pattern of monogenic diabetes is unknown. We aimed to determine the prevalence of monogenic diabetes in Chinese patients with young‐onset diabetes and compare the clinical characteristics and outcome between patients with and without monogenic diabetes.
Sandra T. F. Tsoi +8 more
wiley +1 more source
Automatic Tissue Segmentation with Deep Learning in Patients with Congenital or Acquired Distortion of Brain Anatomy [PDF]
arXiv, 2020 Brains with complex distortion of cerebral anatomy present several challenges to automatic tissue segmentation methods of T1-weighted MR images. First, the very high variability in the morphology of the tissues can be incompatible with the prior knowledge embedded within the algorithms.
arxiv
Diabetes, Obesity and Metabolism, Volume 26, Issue S2, Page 25-33, April 2024.Abstract Bardet‐Biedl syndrome (BBS) is a genetic disorder characterized by early‐onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod‐cone dystrophy. BBS is an autosomal recessive disorder with >20 implicated genes.
Ashley Shoemaker
wiley +1 more source
Congenital hyperinsulinism: diagnostic and management challenges in a developing country – case report [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2017 Management of congenital hyperinsulinemia of infancy (CHI) is challenging. A 4-month-old female infant with persistent hypoglycemia and elevated insulin levels was diagnosed with CHI.
Cheri Mathews John +4 more
doaj +1 more source
Automated Detection of Congenital Heart Disease in Fetal Ultrasound Screening [PDF]
arXiv, 2020 Prenatal screening with ultrasound can lower neonatal mortality significantly for selected cardiac abnormalities. However, the need for human expertise, coupled with the high volume of screening cases, limits the practically achievable detection rates.
arxiv