Results 131 to 140 of about 510,633 (288)
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
Management aspects of congenital adrenal hyperplasia during adolescence and transition to adult care
Clinical Endocrinology, Volume 101, Issue 4, Page 332-345, October 2024.Abstract The adolescent period is characterised by fundamental hormonal changes, which affect sex steroid production, cortisol metabolism and insulin sensitivity. These physiological changes have a significant impact on patients with congenital adrenal hyperplasia (CAH).
Chamila Balagamage +6 more
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
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
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
Toward improved inference for Krippendorff's Alpha agreement coefficient [PDF]
arXiv, 2022 In this article I recommend a better point estimator for Krippendorff's Alpha agreement coefficient, and develop a jackknife variance estimator that leads to much better interval estimation than does the customary bootstrap procedure or an alternative bootstrap procedure.
arxiv
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
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
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
PLoS ONE, 2020 IntroductionCongenital hyperinsulinism is characterized by abnormal regulation of insulin secretion from the pancreas causing profound hypoketotic hypoglycemia and is the leading cause of persistent hypoglycemia in infants and children.
Pradeep K Garg +10 more
doaj +1 more source