Aims: To report the visual and refractive outcome and complications in children with Down syndrome undergoing cataract extraction.
Methods: The case notes of 18 infants and children with lens opacities and Down syndrome who underwent cataract extraction between January 1981 and August 2006 were reviewed.
Results: Over the 25-year study period, 7% (33 eyes) of paediatric eyes undergoing cataract extraction had Down syndrome. The average follow-up time was 11.2 (SD 7.5) years with a range of 2.5 months to 25 years. 25 were congenital, and eight were developmental lens opacities. 40% of patients attained a postoperative BCVA between 6/9 and 6/18. There was a large myopic shift of -7.96 (4.7) D for aphakes and -8.06 (7.4) D for pseudophakes with an average increase in axial length of 3.58 (3.14) mm. There was a 30% incidence of posterior capsular opacification (PCO) overall, 38% in eyes without a primary posterior capsulotomy. Five eyes developed aphakic glaucoma, one eventually necessitating an enucleation. Two patients had retinal detachments on follow-up.
Conclusion: Cataract extraction in our population of children with Down syndrome is a safe and effective procedure with a very encouraging visual outcome.
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http://dx.doi.org/10.1136/bjo.2007.134619 | DOI Listing |
J Exp Med
February 2025
Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Imagine Institute, University Paris Cité, Paris, France.
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.
View Article and Find Full Text PDFArch Gynecol Obstet
January 2025
Department of Congenital Cardiac Surgery, IRCCS Policlinico San Donato, 20097, San Donato, Milan, Italy.
Objectives: Congenital thoracic masses (CTMs) are suspected in presence of solid or cystic thoracic lesions at ultrasound. The common typical fetal CTMs encompass: hyperechogenic lung lesions such as congenital pulmonary airway malformation (CPAM), broncopulmonary sequestration (PS) and congenital high airway obstruction syndrome (CHAOS); less common solid thoracic masses are mediastinal/pericardial tumors as rhabdomyoma and teratoma. The aim of our study is to gather the available evidence on cases of atypical CTMs of difficult classification, for which the diagnosis remains often uncertain.
View Article and Find Full Text PDFJ Infect Dis
January 2025
Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
Background: Pediatric respiratory syncytial virus (RSV)-related acute lower respiratory tract infection (LRTI) commonly requires hospitalization. The Clinical Progression Scale Pediatrics (CPS-Ped) measures level of respiratory support and degree of hypoxia across a range of disease severity, but it has not been applied in infants hospitalized with severe RSV-LRTI.
Methods: We analyzed data from a prospective surveillance registry of infants hospitalized for RSV-related complications across 39 U.
Microbiol Immunol
January 2025
Department of Neurovirology, NIMHANS, Bangalore, India.
COVID-19 severely impacts children in India, with many developing severe pneumonia or multisystem inflammatory syndrome (MIS-C). Concurrently, non-COVID-19 respiratory viruses causing community-acquired pneumonia (CAP) have resurged. These conditions present similarly, challenging accurate diagnosis.
View Article and Find Full Text PDFBirth Defects Res
January 2025
National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: The landscape of co-occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.
Aims: This study aims to elucidate the complex patterns of co-occurring defects in Chinese population.
Materials And Methods: We analyzed cases from the Chinese Birth Defects Monitoring Network (2007-2019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis.
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