Peters' plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye with other multiple congenital anomalies, and a developmental delay. Major symptoms are extremely variable anterior chamber anomalies, cupid bow of the upper lip, cleft lip and palate, short stature, broad hands and feet, and variable mental delay. The syndrome follows an autosomal recessive pattern of inheritance. The etiology is unknown, but may involve abnormal neural crest development. A review of the pertinent literature is provided.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0003-3995(02)01120-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Temporal Trends in Hippocampal Sclerosis Surgery: An Observational Study From a Tertiary Epilepsy Centre.
Eur J Neurol
January 2025
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Objective: Temporal lobe epilepsy with hippocampal sclerosis (HS) is a surgically remediable syndrome. We determined temporal trends in the prevalence of hippocampal sclerosis surgeries and related factors.
Methods: We analysed a prospective cohort of adults who underwent epilepsy surgery at the NHNN, London, between 1990 and 2019.
Severity of Impaired Oxygenation and Conservative Oxygenation Targets in Mechanically Ventilated Children: A Post Hoc Subgroup Analysis of the Oxy-PICU Trial of Conservative Oxygenation.
Pediatr Crit Care Med
January 2025
Paediatric Intensive Care Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and NIHR Biomedical Research Centre, London, United Kingdom.
Objectives: A conservative oxygenation strategy is recommended in adult and pediatric guidelines for the management of acute respiratory distress syndrome to reduce iatrogenic lung damage. In the recently reported Oxy-PICU trial, targeting peripheral oxygen saturations (Spo2) between 88% and 92% was associated with a shorter duration of organ support and greater survival, compared with Spo2 greater than 94%, in mechanically ventilated children following unplanned admission to PICU. We investigated whether this benefit was greater in those who had severely impaired oxygenation at randomization.
View Article and Find Full Text PDFIdentifying biomarker-driven subphenotypes of cardiogenic shock: analysis of prospective cohorts and randomized controlled trials.
EClinicalMedicine
January 2025
University of Paris Cité, Inserm UMR-S 942, Cardiovascular Markers in Stress Conditions (MASCOT), Paris, France.
Background: Cardiogenic shock (CS) is a heterogeneous clinical syndrome, making it challenging to predict patient trajectory and response to treatment. This study aims to identify biological/molecular CS subphenotypes, evaluate their association with outcome, and explore their impact on heterogeneity of treatment effect (ShockCO-OP, NCT06376318).
Methods: We used unsupervised clustering to integrate plasma biomarker data from two prospective cohorts of CS patients: CardShock (N = 205 [2010-2012, NCT01374867]) and the French and European Outcome reGistry in Intensive Care Units (FROG-ICU) (N = 228 [2011-2013, NCT01367093]) to determine the optimal number of classes.
Blarcamesine for the treatment of Early Alzheimer's Disease: Results from the ANAVEX2-73-AD-004 Phase IIB/III trial.
J Prev Alzheimers Dis
January 2025
Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA. Electronic address:
Background: There are no approved oral disease-modifying treatments for Alzheimer's disease (AD).
Objectives: The objective of this study was to assess efficacy and safety of blarcamesine (ANAVEX®2-73), an orally available small-molecule activator of the sigma-1 receptor (SIGMAR1) in early AD through restoration of cellular homeostasis including autophagy enhancement.
Design: ANAVEX2-73-AD-004 was a randomized, double-blind, placebo-controlled, 48-week Phase IIb/III trial.
Protocol to generate a 3D atherogenesis-on-chip model for studying endothelial-macrophage crosstalk in atherogenesis.
STAR Protoc
January 2025
Department of Experimental Vascular Medicine, Amsterdam UMC, location AMC, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Atherosclerosis & Ischemic Syndromes, Amsterdam, the Netherlands; Laboratory of Angiogenesis and Vascular Metabolism, VIB-KU Leuven Center for Cancer Biology, VIB, 3000 Leuven, Belgium; Laboratory of Angiogenesis and Vascular Metabolism, Department of Oncology, KU Leuven and Leuven Cancer Institute (LKI), 3000 Leuven, Belgium. Electronic address:
The endothelium is the gatekeeper of vessel health, and its dysfunction is pivotal in driving atherogenesis. Here, we present a protocol to replicate endothelial-macrophage crosstalk during atherogenesis, called the "atherogenesis-on-chip" model, based on the Emulate dual-channel perfusion system. We describe a model for studying endothelial-macrophage interactions during atherogenesis in human aortic endothelial cells and human macrophages using qPCR and secretome analysis, fluorescence microscopy, and flow cytometry.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!