Genetic Analysis of 17q Terminal Partial Trisomy
Clinical Case Reports, Volume 12, Issue 12, December 2024.ABSTRACT Chromosomal trisomy syndrome is associated with diverse clinical phenotypes, including intellectual disability. Partial trisomy of the distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial dysmorphism, and microcephaly.
Huiling Zheng +6 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
7704 Generating pituitary cells from iPSCs of patients with child onset congenital hypopituitarism harboring PROP1 pathogenic allelic variants [PDF]
J Endocr SocJuliana M Marques +2 more
europepmc +2 more sources
Acta Paediatrica, Volume 113, Issue 12, Page 2610-2618, December 2024.Abstract Aim To examine the relationship between preterm birth and hospitalisation for paediatric complex chronic conditions. Methods We conducted a cohort study of 1 269 745 children born between 2006 and 2022 in Quebec, Canada. We classified preterm birth as extreme (<28 weeks), very (28–31 weeks), and moderate (32–36 weeks).
Gabriel Côté‐Corriveau +4 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
Agenesis of internal carotid artery associated with isolated growth hormone deficiency: A case report and literature review [PDF]
, 2015 BACKGROUND: Agenesis of the internal carotid artery (ICA) is a rare congenital abnormality, sporadically reported to be associated with a combined congenital hypopituitarism.
Becciani, Sabrina +7 more
core +1 more source
Paediatric perspectives in the diagnosis of polyuria‐polydipsia syndrome
Clinical Endocrinology, Volume 101, Issue 6, Page 580-592, December 2024.Abstract The elucidation of the underlying cause of polyuria‐polydipsia syndrome (PPS) is a challenging—especially in the differentiation of partial defects of arginine vasopressin (AVP) secretion or action from primary polydipsia. The water deprivation test has been utilized for many decades, and its application in the paediatric population has been ...
Tony Huynh +2 more
wiley +1 more source
Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism
Clinical Endocrinology, Volume 101, Issue 5, Page 409-442, November 2024.Abstract Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address premature ovarian insufficiency (POI); some allude to management in very brief and general terms, and most ...
Channa N. Jayasena +13 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
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome [PDF]
, 2018 We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS).
Eich, Georg +4 more
core