Search results for "Eyelid"
showing 10 items of 55 documents
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
2015
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…
Hippocampal theta activity is selectively associated with contingency detection but not discrimination in rabbit discrimination-reversal eyeblink con…
2009
The relative power of the hippocampal theta-band ( approximately 6 Hz) activity (theta ratio) is thought to reflect a distinct neural state and has been shown to affect learning rate in classical eyeblink conditioning in rabbits. We sought to determine if the theta ratio is mostly related to the detection of the contingency between the stimuli used in conditioning or also to the learning of more complex inhibitory associations when a highly demanding delay discrimination-reversal eyeblink conditioning paradigm is used. A high hippocampal theta ratio was not only associated with a fast increase in conditioned responding in general but also correlated with slow emergence of discriminative res…
The effect of rewarding hypothalamic stimulation on behavioral and neural hippocampal responses during trace eyeblink conditioning in rabbit (Oryctol…
2005
Rabbits were trace-conditioned with a tone as a conditioned stimulus and an airpuff as an unconditioned stimulus. Electrical stimulation to the medial forebrain bundle in the lateral hypothalamus was delivered either before or after the tone-airpuff pair. The purpose of the present study was to test whether the effect of post-trial hypothalamic stimulation differed from the effect of pre-trial hypothalamic stimulation on trace conditioning in the same subjects. Additionally, hippocampal responses were measured during sessions to see if hypothalamic stimulation activated dopaminergic fibres and affected hippocampal cell functioning and thus learning. The results showed that behavioral nictit…
Hot towels
2023
Background Meibomian gland dysfunction (MGD) reduces quality-of-life and hinders work productivity of millions of patients, with high direct and indirect societal costs. Thickened meibum obstructs the glands and disrupts ocular surface health. Heating the eyelids to soften and express meibum from the glands can be beneficial. The most accessible method for eyelid warming uses heated, wet towels. However, the efficacy of this treatment is reliant on the methodology, and evidence-based best-practice recommendations are needed. Purpose To evaluate the literature on hot towels in MGD treatment and recommend a best-practice protocol for future research and patient treatment. Methods Studies were…
Primary multifocal anaplastic large cell lymphoma with eyelid involvement: a case report
2019
ABSTRACT Ocular adnexal involvement in CD30+ lymphoproliferative disorders is rare. We report the case of a 73-year-old woman with a relapsing primary cutaneous anaplastic large cell lymphoma on her eyelid. A systemic extension study excluded extracutaneous involvement. Systemic chemotherapy resulted in an optimal response, with complete regression of the cutaneous lesions. There has been no recurrence during the 2 years of follow-up. RESUMO O acometimento ocular adicional nos distúrbios linfoproliferativos CD30+ é raro. Relatamos o caso de uma mulher de 73 anos com linfoma de grandes células anaplásicas primárias recidivantes em sua pálpebra. A avaliação sistêmica excluiu envolvimento extr…
Post vaccine acute disseminated encephalomyelitis as the first manifestation of chromosome 22q11.2 deletion syndrome in a 15-month old baby: a case r…
2014
We describe a case of a 15-month-old female child admitted to our hospital because of fever, rash, neurological signs (oscillation between states of irritability and drowsiness), palpebral edema and drooping eyelid, appeared 10 days after the vaccination for measles, mumps and rubella. Brain MRI images showed multiple bilateral hyperintense lesions in the white matter typical of acute disseminated encephalomyelitis (ADEM), an autoimmune demyelinating disorder with inflammatory lesions of the central nervous system, due to viral antigens or vaccines. In the mean time, because of patient's vague phenotypic manifestations, suggestive of a genetic defect, array comparative genomic hybridization…
Aggregated neutrophil extracellular traps occlude Meibomian glands during ocular surface inflammation
2021
Abstract Purpose Obstructive Meibomian gland dysfunction (MGD) is one of the leading causes of evaporative dry eye disease. Meibomian glands at the eyelid secrete lipids that prevent evaporation of the aqueous tear film. The pathogenesis of obstructive MGD is incompletely understood to date. Herein, we aim to investigate the pathogenesis of obstructive MGD using murine and human samples with various forms of ocular surface inflammation. Method The presence of Neutrophil extracellular Traps (NETs) was detected with immunofluorescence analysis of ocular surface discharge and biopsy samples from patients with blepharitis. Tear fluid from patients with MGD and blepharitis were evaluated for the…
Lower eyelid reconstruction by multiple subcutaneous pedicle flaps: a new method.
1992
Abstract In this paper we present an original technique for the reconstruction of the full thickness of the lower eyelid after excision of neoplasms. The method is based on the mobilisation of multiple pedicle subcutaneous flaps outlined in the same eyelid and supported by a chondro-mucosal graft. This technique is used for central and off-central losses which involve the outer rim or up to 75% of the width of the whole eyelid. This method is an alternative to the Hughes (1945), Mustarde´(1981), Tenzel and Stewart (1978) and McGregor (1973) techniques which we have previously used for this type of reconstructive The follow-up is satisfactory in terms of the oncological, functional and aesth…
Hippocampal theta (3-8 Hz) activity during classical eyeblink conditioning in rabbits
2007
In 1978, Berry and Thompson showed that the amount of theta (3–8 Hz) activity in the spontaneous hippocampal EEG predicted learning rate in subsequent eyeblink conditioning in rabbits. More recently, the absence of theta activity during the training trial has been shown to have a detrimental effect on learning rate. Here, we aimed to further explore the relationship between theta activity and classical eyeblink conditioning by determining how the relative power of hippocampal theta activity [theta/(theta + delta) ratio] changes during both unpaired control and paired training phases. We found that animals with a higher hippocampal theta ratio immediately before conditioning learned faster a…
Tear <sup>1</sup>H Nuclear Magnetic Resonance-Based Metabolomics Application to the Molecular Diagnosis of Aqueous Tear Deficiency and Me…
2020
<b><i>Purpose:</i></b> Meibomian gland dysfunction (MGD) is a major cause of signs and symptoms related to dry eyes (DE) and eyelid inflammation. We investigated the composition of human tears by metabolomic approaches in patients with aqueous tear deficiency and MGD. <b><i>Methods:</i></b> Participants in this prospective, case-control pilot study were split into patients with aqueous tear deficiency and MGD (DE-MGD [<i>n</i> = 15]) and healthy controls (CG; <i>n</i> = 20). Personal interviews, ocular surface disease index (OSDI), and ophthalmic examinations were performed. Reflex tears collected by capillarity were pr…