Results 131 to 140 of about 64,340 (272)

Sleep and Rhythmic Profile After Pineal Gland Removal in Humans

open access: yesJournal of Sleep Research, EarlyView.
ABSTRACT Melatonin, a hormone produced by the pineal gland, is classically described as a central circadian modulator. However, the impact of its absence on circadian rhythmicity in humans remains poorly understood. Pinealectomised patients, in whom melatonin secretion is chronically suppressed, represent a valuable clinical model to investigate the ...
Renata de Andrade Prado Gobetti   +7 more
wiley   +1 more source

The perception of strabismus by children and adults [PDF]

open access: yes, 2018
Background: Visible strabismus has been shown to have adverse psychosocial consequences. It remains controversial if esotropia or exotropia is perceived more negatively.
Kunz, Andrea   +2 more
core  

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

A Stratified Surgical Approach for Convergence Insufficiency-Type Exotropia Based on Near Deviation Magnitude: A Retrospective Cohort Study of Motor and Sensory Outcomes

open access: yesTherapeutics and Clinical Risk Management
Feng Dong, Ping Liu, Yanyan Wang Department of Strabismus and Pediatric Ophthalmology, Eye Good Hospital, Wuhan, People’s Republic of ChinaCorrespondence: Feng Dong, Department of Strabismus and Pediatric Ophthalmology, Eye Good Hospital, No.
Dong F, Liu P, Wang Y
doaj  

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 3, Page 205-211, April 2026.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone   +8 more
wiley   +1 more source

Effect of Tonsillar Retractor on Intracranial and Intraocular Pressure in Children Undergoing Adenotonsillectomy Surgeries

open access: yesLaryngoscope Investigative Otolaryngology, Volume 11, Issue 2, April 2026.
The effect of tonsillar retractor placement on IOP and ONSD values. ABSTRACT Objectives The tonsillar retractor used during adenotonsillectomy, one of the most common pediatric surgeries, may increase sympathetic activity. This study aimed to evaluate the effect of tonsillar retractor insertion on intracranial pressure (ICP) and intraocular pressure ...
Ayse Bozkurt Oflaz   +5 more
wiley   +1 more source

Nintedanib Lacks Efficacy in a Spirometry‐Confirmed and Bleomycin‐Induced Mouse Model of Idiopathic Pulmonary Fibrosis

open access: yesBasic &Clinical Pharmacology &Toxicology, Volume 138, Issue 4, April 2026.
ABSTRACT Nintedanib, a multitargeted tyrosine kinase inhibitor, is approved for idiopathic pulmonary fibrosis (IPF) for its ability to slow lung function decline. This study systematically evaluated the effects of nintedanib across three independent treatment intervention studies in the single‐dose bleomycin (BLEO) mouse model of IPF.
Jamal Bousamaki   +12 more
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

open access: yesClinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti   +16 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

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