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1.
Wien Med Wochenschr ; 174(5-6): 123-125, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37079176

RESUMEN

Acute bilateral vision loss (ABVL) is a rare and challenging diagnostic issue that is most often caused by a neurological disorder. Since it can be the presenting symptom of potentially life-threatening diseases, priority should be given to excluding such diagnoses. Special caution is required if ABVL symptoms result after an intracranial intervention. This article reports on a diagnostic approach for a patient suffering from ABVL due to vitreous hemorrhage related to a subarachnoid hemorrhage (SAH) after endovascular intracranial aneurysm treatment. This case study highlights the importance of imaging interpretation and its consequences.


Asunto(s)
Aneurisma Intracraneal , Hemorragia Subaracnoidea , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/cirugía , Hemorragia Subaracnoidea/diagnóstico por imagen , Hemorragia Subaracnoidea/etiología , Hemorragia Subaracnoidea/cirugía , Hemorragia Vítrea/complicaciones , Hemorragia Vítrea/diagnóstico
2.
Cornea ; 43(5): 627-634, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38147570

RESUMEN

PURPOSE: Aniridia is a rare corneal disease that is often associated with aniridia-associated keratopathy (AAK). In AAK, the conjunctival tissue crosses the limbal border, forming a corneal pannus that extends into the corneal center. With increasing AAK severity, corneal pannus formation, vascularization, and ocular surface inflammation increase. The purpose of this study was to investigate inflammation-related mRNA expression in conjunctival epithelial cells in AAK and its relationship with AAK severity. METHODS: Using impression cytology, bulbar conjunctival cells were sampled from 20 subjects with congenital aniridia and 20 age-matched and sex-matched healthy control subjects. RNA was extracted, and mRNA analyses were performed using microarray, which was evaluated for inflammatory markers. RESULTS: In the analyzed aniridia subjects, 70 deregulated mRNAs encoding proinflammatory or antiinflammatory cytokines or factors associated with chronic inflammation, including increased IL-1, IL-8, and MIP3A/CCL20 mRNA. The most downregulated mRNA was TIMP3, and the most upregulated mRNA was Protein c-Fos.Of the 70 mRNAs, 14 inflammation-related genes were altered only in the mild AAK forms, whereas only 2 mRNAs were altered only in the severe AAK forms (TLR4 and PPARG). CONCLUSIONS: The expression of numerous proinflammatory and antiinflammatory cytokines is deregulated at the ocular surface of aniridia subjects with mild AAK. Thus, early antiinflammatory treatment may prevent or slow down corneal scarring and pannus formation in aniridia subjects.


Asunto(s)
Aniridia , Enfermedades de la Córnea , Neovascularización de la Córnea , Humanos , ARN Mensajero/genética , Análisis de Datos Secundarios , Citología , Enfermedades de la Córnea/complicaciones , Aniridia/genética , Aniridia/complicaciones , Neovascularización de la Córnea/complicaciones , Inflamación/genética , Trastornos de la Visión , Citocinas/genética
3.
Acta Ophthalmol ; 102(4): e635-e645, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38130099

RESUMEN

PURPOSE: Congenital aniridia is a rare disease, which is in most cases related to PAX6 haploinsufficiency. Aniridia associated keratopathy (AAK) also belongs to ocular signs of congenital aniridia. In AAK, there is corneal epithelial thinning, corneal inflammation, vascularization and scarring. In advanced stage AAK, typically, conjunctival epithelial cells slowly replace the corneal epithelium. Based on previous results we hypothesize that alterations of the conjunctival cells in congenital aniridia may also support the corneal conjunctivalization process. The aim of this study was to identify deregulated proteins in conjunctival impression cytology samples of congenital aniridia subjects. METHODS: Conjunctival impression cytology samples of eight patients with congenital aniridia [age 34.5 ± 9.9 (17-51) years, 50% female] and eight healthy subjects [age 34.1 ± 11.9 (15-54) years, 50% female] were collected and analysed using mass spectrometry. Proteomic profiles were analysed in terms of molecular functions, biological processes, cellular components and pathway enrichment using the protein annotation of the evolutionary relationship (PANTHER) classification system. RESULTS: In total, 3323 proteins could be verified and there were 127 deregulated proteins (p < 0.01) in congenital aniridia. From the 127 deregulated proteins (DEPs), 82 altered biological processes, 63 deregulated cellular components, 27 significantly altered molecular functions and 31 enriched signalling pathways were identified. Pathological alteration of the biological processes and molecular functions of retinol binding and retinoic acid biosynthesis, as well as lipid metabolism and apoptosis related pathways could be demonstrated. CONCLUSIONS: Protein profile of conjunctival impression cytology samples of aniridia subjects identifies alterations of retinol binding, retinoic acid biosynthesis, lipid metabolism and apoptosis related pathways. Whether these changes are directly related to PAX6 haploinsufficiency, must be investigated in further studies. These new findings offer the possibility to identify potential new drug targets.


Asunto(s)
Aniridia , Conjuntiva , Humanos , Femenino , Aniridia/genética , Aniridia/metabolismo , Aniridia/diagnóstico , Adulto , Masculino , Adolescente , Adulto Joven , Conjuntiva/metabolismo , Conjuntiva/patología , Persona de Mediana Edad , Proteómica/métodos , Espectrometría de Masas , Proteínas del Ojo/metabolismo , Proteínas del Ojo/genética , Citología
4.
Front Physiol ; 14: 1281327, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37929210

RESUMEN

Long-duration spaceflight can have adverse effects on human health. One of the most common ocular conditions experienced by astronauts is dry eye disease (DED). Symptoms of DED include feelings of eye irritation, eye strain, foreign body sensation and blurred vision. Over 30% of International Space Station expedition crew members reported irritation and foreign body sensation. We reviewed the current literature on the prevalence and mechanisms of DED in astronauts and its potential implications for long-duration spaceflight, including the influence of environmental factors, such as microgravity and fluid shift on tear film physiology in space. DED has negative effects on astronaut performance, which is why there is a need for further research into the pathophysiology and countermeasures. As an in-flight countermeasure, neurostimulation seems to be among the most promising options.

8.
Br J Ophthalmol ; 2022 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-36517210

RESUMEN

AIM: To evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia. METHODS: 45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study. Whole-exome sequencing identified the causative mutation. Examinations included slit-lamp biomicroscopy, in vivo confocal microscopy, Ocular Surface Disease Index (OSDI) score, blink rate, Schirmer I test, Oxford Staining Score (OSS), tear film break-up time (TFBUT) and Ocular Protection Index (OPI). RESULTS: There were age-dependent increases in OSDI (ß=0.34, 95% CI 0.03 to 0.66; p=0.030), blink rate (ß=0.18, 95% CI 0.08 to 0.27; p<0.001) and OSS (ß=0.05, 95% CI 0.03 to 0.07; p<0.001) and age-dependent reductions in tear production (ß=-0.23, 95% CI -0.43 to 0.02; p=0.029) and TFBUT (ß=-0.10, 95% CI -0.17 to -0.04; p<0.001). Perturbed OSDI, OSS, blink rate, tear production and TFBUT were noted after the age of ten and OSDI, OSS, blink rate and TFBUT correlated with deficient corneal nerves and limbal stem cell function. OSDI, blink rate, Schirmer, OSS, TFBUT and OPI were not associated with type of PAX6 mutation, but OSDI, OSS and blink rate associated with grade of aniridia-associated keratopathy. CONCLUSIONS: Ocular surface damage and dry eye signs appear in congenital aniridia regardless of mutation, appearing after 10 years of age and progressing thereafter. An early treatment window may exist for therapies to protect the ocular surface homoeostasis and limbal function, to possibly delay keratopathy development and progression.

9.
Ophthalmologe ; 119(5): 471-480, 2022 May.
Artículo en Alemán | MEDLINE | ID: mdl-34705089

RESUMEN

AIM: This study compared Saarland University Eye Hospital employees' satisfaction with the FIDUS electronic patient record between December 2016 and September 2020, after its introduction in January 2016. METHODS: For the retrospective study, the FIDUS team at the Saarland University Eye Hospital created a questionnaire which was distributed to all participants (physicians, nursing staff, and administrative staff) in December 2016 and September 2020. The questionnaire contained 19 questions, each scored from 0 to 10 (0: disagree; 5: partly agree; 10: completely agree). RESULTS: The number of participants increased significantly from 60/136 (47%) to 89/140 (64%) between 2016 and 2020. Of these participants, 23 (25.8%) were physicians, 27 (30.3%) were nurses, 12 (13.4%) were in administration, 16 (17.9%) were in other employment, and 11 (12.3%) did not disclose their employment. In 2020, 75.6% of employees agreed with a score of 10 that implementation of electronic medical records was the right step, compared to only 36.7% in 2016 (p < 0.001). The highest rating for "record entries are faster to write with a computer than handwritten" was obtained in 38% in 2020 vs. 25% in 2016 (p < 0.001). CONCLUSION: Satisfaction with the FIDUS electronic patient record has improved significantly in 2020 compared to 2016, particularly concerning file clarity and faster workflows. The proportion of respondents who see their initial expectations of electronic patient files as 100% fulfilled has tripled. However, there is still a need for optimization of details.


Asunto(s)
Registros Electrónicos de Salud , Electrónica , Hospitales Universitarios , Humanos , Estudios Retrospectivos , Encuestas y Cuestionarios , Universidades
12.
Exp Eye Res ; 215: 108904, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34954205

RESUMEN

PAX6 haploinsufficiency related aniridia is characterized by disorder of limbal epithelial cells (LECs) and aniridia related keratopathy. In the limbal epithelial cells of aniridia patients, deregulated retinoic acid (RA) signaling components were identified. We aimed to visualize differentiation marker and RA signaling component expression in LECs, combining a differentiation triggering growth condition with a small interfering RNA (siRNA) based aniridia cell model (PAX6 knock down). Primary LECs were isolated from corneoscleral rims of healthy donors and cultured in serum free low Ca2+ medium (KSFM) and in KSFM supplemented with 0.9 mmol/L Ca2+. In addition, LECs were treated with siRNA against PAX6. DSG1, PAX6, KRT12, KRT 3, ADH7, RDH10, ALDH1A1, ALDH3A1, STRA6, CYP1B1, RBP1, CRABP2, FABP5, PPARG, VEGFA and ELOVL7 expression was determined using qPCR and western blot. DSG1, FABP5, ADH7, ALDH1A1, RBP1, CRABP2 and PAX6 mRNA and FABP5 protein expression increased (p ≤ 0.03), PPARG, CYP1B1 mRNA expression decreased (p ≤ 0.0003) and DSG1 protein expression was only visible after Ca2+ supplementation. After PAX6 knock down and Ca2+ supplementation, ADH7 and ALDH1A1 mRNA and DSG1 and FABP5 protein expression decreased (p ≤ 0.04), compared to Ca2+ supplementation alone. Using our cell model, with Ca2+ supplementation and PAX6 knockdown with siRNA treatment against PAX6, we provide evidence that haploinsufficiency of the master regulatory gene PAX6 contributes to differentiation defect in the corneal epithelium through alterations of RA signalling. Upon PAX6 knockdown, DSG1 differentiation marker and FABP5 RA signaling component mRNA expression decreases. A similar effect becomes apparent at protein level though differentiation triggering Ca2+ supplementation in the siRNA-based aniridia cell model. Expression data from this cell model and from our siRNA aniridia cell model strongly indicate that FABP5 expression is PAX6 dependent. These new findings may lead to a better understanding of differentiation processes in LECs and are able to explain the insufficient cell function in AAK.


Asunto(s)
Aniridia , Desmogleína 1 , Proteínas de Unión a Ácidos Grasos , Factor de Transcripción PAX6 , Aniridia/genética , Antígenos de Diferenciación , Desmogleína 1/biosíntesis , Desmogleína 1/genética , Células Epiteliales/metabolismo , Proteínas de Unión a Ácidos Grasos/biosíntesis , Proteínas de Unión a Ácidos Grasos/genética , Proteínas de Unión a Ácidos Grasos/metabolismo , Humanos , Factor de Transcripción PAX6/genética , Factor de Transcripción PAX6/metabolismo , ARN Mensajero/genética , ARN Mensajero/metabolismo , ARN Interferente Pequeño/genética , ARN Interferente Pequeño/metabolismo , Tretinoina/metabolismo
13.
Ocul Surf ; 21: 160-173, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-34102310

RESUMEN

PURPOSE: Abnormalities in the limbal niche microenvironment have been suggested to be causally involved in aniridia-associated keratopathy (AAK), but histological analyses on the limbal structure and composition in AAK are lacking. Here, we investigated morphologic and molecular alterations of the limbal epithelial stem cell niche in human congenital aniridia. METHODS: The blind, buphthalmic and painful left eye of a 16-year old girl with congenital aniridia and juvenile glaucoma had to be enucleated because of uncontrolled intraocular pressure. The diagnosis of AAK was based on classical clinical features and partial limbal stem cell deficiency in the superior half. Genetic analysis identified a large heterozygous PAX6 gene deletion encompassing exons 11-15 as well as exon 9 of the neighboring ELP4 gene. Three limbal biopsies were taken from the superior, nasal and temporal regions to isolate and cultivate limbal epithelial progenitor cells and subject them to mRNA expression analyses. The globe was vertically bisected and processed for light and transmission electron microscopy and immunohistochemistry. RESULTS: Comparative analysis of the superior and inferior limbal zones showed a gradual degradation of palisade structures associated with the transition from a hyperplastic to an attenuated corneal epithelium, inflammatory cell infiltrations and basement membrane irregularities. The clinically unaffected inferior part revealed no distinct stem cell clusters in the preserved palisade region, but a uniform population of hyperproliferative, undifferentiated progenitor cells in the basal/suprabasal layers of limbal and corneal epithelia, which gave rise to maldifferentiated epithelial cells exhibiting a conjunctival/epidermal phenotype and nuclear-to-cytoplasmic translocation of Pax6. The structure of the limbal niche was fundamentally perturbed, showing marked alterations in extracellular matrix composition, dislocation of atypical melanocytes lacking melanosomes and melanin, aberrant Wnt/ß-catenin and retinoic acid signaling, and massive immune cell infiltration. CONCLUSIONS: Considering the limitations of a single Case study, the findings suggest that ocular surface alterations in AAK are caused by a primary dysfunction and gradual breakdown of the limbal stem cell niche through Pax6-related effects on both melanogenesis and epithelial differentiation.


Asunto(s)
Aniridia , Enfermedades de la Córnea , Epitelio Corneal , Limbo de la Córnea , Adolescente , Aniridia/genética , Femenino , Humanos , Proteínas del Tejido Nervioso , Nicho de Células Madre
14.
Ophthalmologe ; 118(8): 865-878, 2021 Aug.
Artículo en Alemán | MEDLINE | ID: mdl-33900429

RESUMEN

Pachychoroid spectrum disorders are characterized by a thickening of the choroid. The spectrum includes pachychoroid pigment epitheliopathy (PPE), central serous chorioretinopathy (CCS), pachychoroid neovasculopathy (PNV), polypoidal choroidal vasculopathy (PCV)/aneurysmal type 1 choroidal neovascularization (ACNV-1), focal choroidal excavation (FCE) and peripapillary pachychoroid syndrome (PPS). If the choroid is thickened and there is a pathological alteration in the retinal pigment epithelium, the diagnosis is PPE; if the thickened choroid is accompanied by subretinal fluid, the diagnosis is CCS; if choroidal neovascularization is present, the diagnosis is PNV; if accompanied by aneurysms, the diagnosis is ACNV­1. The PPE, CCS, PNV and ACNV­1 were formerly regarded as independent disease entities but can be classified into four forms of a single disease family, pachychoroid macular disease.


Asunto(s)
Coriorretinopatía Serosa Central , Enfermedades de la Coroides , Coriorretinopatía Serosa Central/diagnóstico , Coroides/diagnóstico por imagen , Angiografía con Fluoresceína , Humanos , Tomografía de Coherencia Óptica
16.
Ophthalmologe ; 118(1): 53-55, 2021 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-32211921

RESUMEN

A Wessely immune ring can be found in various corneal infections as well as in non-infectious processes. Its appearance can aid in the differential diagnosis but can also be misleading. A definitive diagnosis can only be reached when all clinical and microbiological findings are taken into consideration. This article discusses and critically reflects on the differential diagnostic considerations and treatment strategies in the context of a case report on a 31-year-old patient with contact lenses and diffuse endothelial decompensation with a focal, mid-peripheral infiltrate and a Wessely immune ring.


Asunto(s)
Queratitis por Acanthamoeba , Lentes de Contacto , Queratitis , Queratitis por Acanthamoeba/diagnóstico , Adulto , Diagnóstico Diferencial , Humanos , Queratitis/diagnóstico , Queratitis/terapia
17.
Exp Eye Res ; 179: 8-17, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30292490

RESUMEN

PAX6-related Aniridia is a sight-threatening disease involving progression of secondary glaucoma and aniridia related keratopathy (ARK). Change or loss of limbal epithelial progenitors causes epithelial surface defects. We analyzed the effect of PAX6 on mRNA expression changes with a two-step approach, as follows. First, we sequenced mRNA from limbal epithelial cells isolated from controls and aniridia patients. Second, we confirmed the bioinformatics and literature-based result list for a small interfering RNA (siRNA)-based primary aniridia cell model (PAX6 knockdown). With this approach, we expected that the genes directly influenced by PAX6 would be distinguishable from those affected secondarily by the ARK disease state. Therefore, epithelial cells were isolated from the limbus region of two patients with aniridia and cultured in keratinocyte serum-free medium. Normal control cells were obtained from the limbus region of corneal donors. For the siRNA-based aniridia cell model, cells were transfected with Lipofectamine and 5 nM siRNA against PAX6 or control treatment. All cells were lysed to yield DNA, RNA, and protein. Reduction of PAX6 protein was assessed by western blot. Aniridia and control Poly-A-enriched RNA libraries were subjected to next-generation sequencing. The differential analysis was a combination of quantification with RSEM and differential tests with edgeR. Gene lists were filtered by comparison to NCBI GEO datasets, annotated with DAVID, and manually annotated using a literature search. Based on the resulting filtered gene list, qPCR primers were purchased, and candidate genes (TP63, ABCG2, ADH7, ALDH1A1, PITX1, DKK1, DSG1, KRT12, KRT3, KRT13, SPINK6, SPINK7, CTSV, SERPINB1) were verified by qPCR on the siRNA-based aniridia cell model. We identified genes that might be regulated by PAX6 and showed that SPINK7 mRNA, which codes for a protease inhibitor, is downregulated in patients as well as in our primary aniridia cell model. ALDH1A1 and AHD7 mRNA levels were reduced in limbal epithelial cells of aniridia patients, and both transcripts were downregulated by PAX6 knockdown in our cell model. This siRNA-based aniridia cell model is a valuable tool for confirming identified PAX6-affected genes that might promote ARK pathogenesis. The model recapitulated expression changes for SPINK7, ADH7, and ALDH1A1 that were also observed in patient samples. These results provide evidence that PAX6 might drive corneal epithelial differentiation by direct or indirect control of retinoic acid signaling processes through ADH7 and ALDH1A1.


Asunto(s)
Alcohol Deshidrogenasa/genética , Aldehído Deshidrogenasa/genética , Aniridia/genética , Epitelio Corneal/metabolismo , Limbo de la Córnea/metabolismo , Transducción de Señal/fisiología , Tretinoina/metabolismo , Familia de Aldehído Deshidrogenasa 1 , Western Blotting , Diferenciación Celular , Células Cultivadas , Enfermedades de la Córnea/genética , Enfermedades de la Córnea/metabolismo , Regulación de la Expresión Génica/fisiología , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Modelos Biológicos , Factor de Transcripción PAX6/fisiología , ARN Mensajero/genética , ARN Interferente Pequeño/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Retinal-Deshidrogenasa , Inhibidores de Serinpeptidasas Tipo Kazal/genética , Transfección
19.
Oper Neurosurg (Hagerstown) ; 14(2): 166-170, 2018 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-29351679

RESUMEN

BACKGROUND: Additional landmarks for identifying the suprascapular nerve at its entrance into the suprascapular foramen from an anterior approach would be useful to the surgeon. OBJECTIVE: To identify landmarks for the identification of this hidden site within an anterior approach. METHODS: In 8 adult cadavers (16 sides), lines were used to connect the superior angle of the scapula, the acromion, and the coracoid process tip thus creating an anatomic triangle. The suprascapular nerve's entrance into the suprascapular foramen was documented regarding its position within this anatomical triangle. Depths from the skin surface and specifically from the medial-most point of the clavicular attachment of the trapezius to the suprascapular nerve's entrance into the suprascapular foramen were measured using calipers and a ruler. The clavicle was then fractured and retracted superiorly to verify the position of the nerve's entrance into the suprascapular foramen. RESULTS: From the trapezius, the nerve's entrance into the foramen was 3 to 4.2 cm deep (mean, 3.5 cm). The mean distance from the tip of the corocoid process to the suprascapular foramen was 3.8 cm. The angle best used to approach the suprascapular foramen from the surface was 15° to 20°. CONCLUSION: Based on our study, an anterior suprascapular approach to the suprascapular nerve as it enters the suprascapular foramen can identify the most medial fibers of the trapezius attachment onto the clavicle and insert a finger at an angle of 15° to 20° laterally and advanced to an average depth of 3.5 cm.


Asunto(s)
Escápula/anatomía & histología , Escápula/inervación , Anciano , Anciano de 80 o más Años , Descompresión Quirúrgica/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Neuroquirúrgicos/métodos , Escápula/cirugía
20.
Clin Anat ; 31(3): 392-397, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28906020

RESUMEN

PAX6 is a master gene of ocular development and postnatal ocular equilibrium. Congenital aniridia is the hallmark of PAX6 gene haploinsufficiency (Chr. 11 p. 13), but PAX6-associated aniridia is a profound, progressive pan-ocular developmental disorder often leading to blindness. There is congenital visual impairment with advancing loss of vision mainly due to secondary glaucoma and to corneal blindness caused by limbal stem cell insufficiency (LSCI). LSCI leads to ARK (aniridia-related keratopathy), which typically develops in four stages. Incipient LSCI with vessels starting to grow into the cornea can be imaged by fluorescein anterior segment angiography, which enables fine vessels to be more easily detected than by routine slit lamp examination, especially in patients with nystagmus. Thus, clinical stage 1 ARK is often diagnosed at stage 2 by angiography. Corneal neovascularizations often start at the 12 and 6 positions and subsequently progress circumferentially, not at the 3 and 9 positions as previously believed. Anterior segment angiography can provide an easily standardizable tool for monitoring progress, treatment-induced regress or stabilization of ARK. Especially in children, angiography could be used to monitor new treatment regimens for reducing LSCI. Angiography could enable treatment to begin earlier to preserve corneal hemostasis. In addition, the fact that vascularization often starts at the subpalpebral 6 and 12 positions as opposed to the 3 and 9 positions raises more questions concerning factors that promote LSCI and related corneal injuries. Clin. Anat. 31:392-397, 2018. © 2018 Wiley Periodicals, Inc.


Asunto(s)
Aniridia/diagnóstico por imagen , Angiografía , Aniridia/genética , Progresión de la Enfermedad , Humanos , Factor de Transcripción PAX6/genética , Nicho de Células Madre
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