The paper reports on a synthesis of an important part of ophthalmology: congenital affections of the lacrimal apparatus. The first part presents topographically the congenital lacrimal entities. The authors survey then the methods of classic and modern investigations and conclude with a synthetic presentation of the techniques of surgery.
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Handb Clin Neurol
March 2025
Department of Experimental Clinical and Health Psychology, Ghent University, Ghent, Belgium. Electronic address:
This review examines the relationship between visceral and brain asymmetry and explores whether their alignment observed in some vertebrate species also exists in humans. While the development of visceral and brain asymmetry may have occurred for different reasons, it is possible that the basic mechanisms for left-right differentiation of the visceral system were duplicated in the brain. We describe the main phenotypical anomalies and the general mechanism of left-right differentiation in vertebrates, followed by a systematic review of available human studies on behavioral and brain asymmetry in individuals with reversed visceral organization.
View Article and Find Full Text PDFClin Radiol
February 2025
Department of Radiology, Children's Health Ireland, Dublin, Ireland.
Aim: Trisomy 21, also known as Down syndrome, is the most common chromosomal abnormality seen in live births and is associated with congenital abnormalities involving multiple organ systems. While the congenital cardiac and gastrointestinal associations of trisomy 21 are well known, the associated pulmonary radiological findings are less widely described. Our objective is to assess the presence, categories, and prevalence of pulmonary radiological findings in patients with trisomy 21, and to describe and provide reference images of these findings.
View Article and Find Full Text PDFEchocardiography
March 2025
Division of Pediatric Cardiology, Department of Pediatrics, UCLA Mattel Children's Hospital, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Objective: To determine the sensitivity, specificity, and false-positive rate among fetuses suspected prenatally to have coarctation of the aorta (CoA) using size and shape measurements of the fetal heart from the four-chamber view (4CV).
Methods: This was a retrospective study of 108 fetuses identified by pediatric cardiologists to be at risk for CoA. 4CV s from the last antenatal ultrasound performed by the cardiologists were analyzed.
JBRA Assist Reprod
March 2025
Department of Gynecology and Obstetrics, University Hospital Farhat Hached, Faculty of Medicine, Ibn Al Jazzar, University of Sousse, Sousse, Tunisia.
Swyer syndrome, represents a rare manifestation of primary amenorrhea arising from gonadal dysgenesis. This syndrome is distinguished by the manifestation of a female phenotype despite a 46, XY karyotype. We present the case of a patient aged 32 the second of three sisters; consulted for the first time with a main complaint of primary unexplored amenorrhea responsible for infertility of 1 year with a female phenotype and a male karyotype: 46XY.
View Article and Find Full Text PDFSci Adv
March 2025
Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems @UniTn, Rovereto, Italy.
Chromosome 22q11.2 deletion increases the risk of neuropsychiatric disorders like autism and schizophrenia. Disruption of large-scale functional connectivity in 22q11 deletion syndrome (22q11DS) has been widely reported, but the biological factors driving these changes remain unclear.
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