Results 91 to 100 of about 31,890 (276)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Extra-ocular movement restriction and diplopia following orbital fracture repair [PDF]

open access: yes, 2017
Purpose To report a series of patients with extra-ocular movement restriction and diplopia after orbital fracture repair, and determine the effect of timing of repair and the type of implant used. Methods A chart review was conducted identifying
Baumanis, Maraya   +6 more
core   +1 more source

Esketamine/Ketamine: Dual‐Action Mechanisms and Clinical Prospects beyond Anesthesia in Psychiatry, Immunology, and Oncology

open access: yesAdvanced Science, Volume 13, Issue 7, 3 February 2026.
Esketamine and ketamine are widely used for perioperative analgesia and anesthesia. Despite their established roles in analgesia, sedation, and anesthesia, as well as emerging antidepressant, anti‐tumor, and anti‐inflammatory effects, their clinical use is limited due to side effects and addiction potential.
Yinxin Wang   +7 more
wiley   +1 more source

From Aid Dependency to Self‐Reliance: Lessons From Sierra Leone and Rwanda's Strategies for Eliminating Preventable Blindness in Africa: A Perspective Study

open access: yesHealth Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims Preventable blindness remains a leading cause of disability in low‐income countries (LICs), with 91.5% of cases in Sierra Leone and 83.9% in Rwanda considered avoidable. Reliance on foreign aid has supported eye care development in Africa, yet has also fostered systemic dependency.
Babatunde Ismail Bale   +5 more
wiley   +1 more source

Comparing the Effect of Supplemental 80% and 40% Oxygen on Postoperative Nausea and Vomiting in the Pediatrics Undergoing Strabismus Surgery [PDF]

open access: yesMajallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2017
Background: Postoperative nausea and vomiting (PONV) is one of the most common complications in the patients undergoing strabismus surgery. The aim of current study was comparing supplemental 80% and 40% oxygen on reducing postoperative nausea and ...
Darioush Moradi Farsani   +4 more
doaj  

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study. [PDF]

open access: yes, 2019
BACKGROUND:The objective of this study is to describe variations in the healthcare resource utilization (HRU) among individuals with Angelman syndrome (AS) over the first 12 years of life. Data for this study were drawn from the AS Natural History study (
Bird, Lynne M   +4 more
core   +1 more source

Outsourced eye care in the Finnish capital region: Switching from fee‐for‐service to bundled payment model

open access: yesActa Ophthalmologica, Volume 104, Issue 1, Page 114-129, February 2026.
Abstract Purpose The demand for specialised eye care has quadrupled over the last two decades, driven by an aging population and the advent of new treatments. This surge has led to increased outsourcing by the Helsinki and Uusimaa Hospital District (HUS) Eye Hospital, initially relying on a fee‐for‐service model. This model, however, has been marked by
Susanna Moisander   +7 more
wiley   +1 more source

Visual pathway function and structure in Wolfram syndrome: Patient age, variation and progression [PDF]

open access: yes, 2018
Background/aimsTo report alterations in visual acuity and visual pathway structure over an interval of 1–3 years in a cohort of children, adolescents and young adults who have Wolfram syndrome (WFS) and to describe the range of disease severity evident ...
Al-Lozi, Amal   +6 more
core   +2 more sources

A 5‐month‐old infant with a pineal tumor

open access: yes
Brain Pathology, EarlyView.
Fabien Forest   +7 more
wiley   +1 more source

Visual acuity outcomes up to 12 years and risk factors for visual impairment in a national cohort of extremely preterm born children – The Extremely Preterm Infants in Sweden Study (EXPRESS)

open access: yesActa Ophthalmologica, Volume 104, Issue 1, Page 65-74, February 2026.
Abstract Purpose The Extremely Preterm Infants in Sweden Study (EXPRESS) followed a national cohort of extremely preterm born (EPT, i.e. <27 weeks) children until 12 years of age. This study aimed to investigate the longitudinal development of visual acuity (VA) in children born EPT, explore the predictive value of early visual assessments, and ...
Despoina Tsamadou   +12 more
wiley   +1 more source

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