Results 131 to 140 of about 5,557 (240)

Congenital growth hormone deficiency associated with hip dysplasia and Legg-Calve-Perthes disease [PDF]

, 2021
Objective: Growth hormone deficiency (GHD) is usually treated with recombinant human GH (rhGH), and this has been rarely associated with hip disorders.
Chiarini, S, Dattani, MT, Lamback, EB, Roposch, A   +3 more
core  

Artificial neural networks for 3D cell shape recognition from confocal images [PDF]

arXiv, 2020
We present a dual-stage neural network architecture for analyzing fine shape details from microscopy recordings in 3D. The system, tested on red blood cells, uses training data from both healthy donors and patients with a congenital blood disease. Characteristic shape features are revealed from the spherical harmonics spectrum of each cell and are ...
arxiv  

Less known aspects of central hypothyroidism: Part 2 – Congenital etiologies

Journal of Clinical & Translational Endocrinology, 2018
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism.
Salvatore Benvenga, Marianne Klose, Roberto Vita, Ulla Feldt-Rasmussen   +3 more
doaj  

A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant

Children
Background: Multiple genes can disrupt hypothalamic–pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved ...
Claudia Santoro, Francesca Aiello, Antonella Farina, Emanuele Miraglia del Giudice, Filomena Pascarella, Maria Rosaria Licenziati, Nicola Improda, Giulio Piluso, Annalaura Torella, Francesca Del Vecchio Blanco, Mario Cirillo, Vincenzo Nigro, Anna Grandone   +12 more
doaj   +1 more source

The Role of Machine Learning in Congenital Heart Disease Diagnosis: Datasets, Algorithms, and Insights [PDF]

arXiv
Congenital heart disease is among the most common fetal abnormalities and birth defects. Despite identifying numerous risk factors influencing its onset, a comprehensive understanding of its genesis and management across diverse populations remains limited.
arxiv  

Transfer learning for diagnosis of congenital abnormalities of the kidney and urinary tract in children based on Ultrasound imaging data [PDF]

arXiv, 2017
Classification of ultrasound (US) kidney images for diagnosis of congenital abnormalities of the kidney and urinary tract (CAKUT) in children is a challenging task. It is desirable to improve existing pattern classification models that are built upon conventional image features.
arxiv  

CONGENITAL HYPOPITUITARISM (CH) IN FEMALE INFANTS: PRESENTATION WITH HYPOGLYCEMIA AND HYPOTHYROIDISM [PDF]

, 1977
A Kauschansky, Myron Genel, Howard A. Pearson   +2 more
openalex   +1 more source

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism. [PDF]

, 2018
OBJECTIVES: Central hypothyroidism (CeH) is a rare form of hypothyroidism characterized by insufficient thyroid stimulation due to disturbed pituitary and/or hypothalamic functioning.
Bonomi, Marco, Brabant, Georg, Dattani, Mehul, Feldt-Rasmussen, Ulla, Fliers, Eric, Gruters, Annette, Maiter, Dominique, Persani, Luca, Schoenmakers, Nadia, van Trotsenburg, AS Paul   +9 more
core   +2 more sources

Knockout mice with pituitary malformations help identify human cases of hypopituitarism

Genome Medicine
Background Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis   +13 more
doaj   +1 more source

Congenital Heart Disease recognition using Deep Learning/Transformer models [PDF]

arXiv
Congenital Heart Disease (CHD) remains a leading cause of infant morbidity and mortality, yet non-invasive screening methods often yield false negatives. Deep learning models, with their ability to automatically extract features, can assist doctors in detecting CHD more effectively. In this work, we investigate the use of dual-modality (sound and image)
arxiv