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1.
Indian J Radiol Imaging ; 34(3): 511-521, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38912256

RESUMEN

Background Intracranial cavernous malformations (CMs), commonly known as cavernomas or cavernous angiomas, are low-flow, well-circumscribed vascular lesions composed of sinusoidal spaces lined by a single layer of endothelium and separated by a collagenous matrix without elastin, smooth muscle, or other vascular wall elements. A diameter greater than 3 cm for a CM is unlikely. These lesions may have atypical appearances on magnetic resonance imaging (MRI). MRI with advanced techniques such as a susceptibility-weighted image or T2-gradient echo, a diffusion-weighted image and corresponding apparent diffusion coefficient map, and diffusion tensor tractography have revolutionized the diagnostic approach to these lesions. Materials and Method The present study reviews the etiopathogenesis, clinical manifestations, MRI strategy, and MRI appearances of the CMs, with a few examples of the giant CMs from our archive. Results Intracranial giant CMs may have unexpected locations, sizes, numbers, and varied imaging appearances due to repeated hemorrhages, unusual enhancement patterns, intense perifocal edema, and unusual associations, making the differential diagnosis difficult. Conclusion Familiarity with the MRI appearances of the giant intracranial CMs and the differential diagnosis improves diagnostic accuracy and patient management.

2.
Heliyon ; 10(10): e31517, 2024 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-38813189

RESUMEN

Background: It is important to accurately determine the blood ethanol concentration (BEC) to ensure appropriate diagnosis and treatment of patients in the emergency department (ED) and protect their legal rights. This study aimed to determine whether sterilization of venipuncture site with ethanol, which is frequently used in practice in the ED would affect BEC. Methods: Venous blood samples were collected by two consecutive techniques from 94 individuals who were admitted to the ED, had an indication for BEC measurement, and volunteered to participate in the study. The reference technique involved applying 3 cc of 10 % povidone-iodine solution to a gauze pad, cleaning the right arm antecubital region, and performing phlebotomy. The index technique used 3 cc of alcohol-based antiseptic (89 % ethanol) on another gauze for cleaning the left arm antecubital region. Both techniques allowed the antiseptic to air-dry for 30 s before phlebotomy. Two blood sample tubes per patient were sent to the laboratory, and BEC were measured using the alcohol dehydrogenase enzymatic method. Results: 94 patients were included in the study. The mean age was 37.8 years (±15.7), with 77 % (n = 72) of them were male. The median BEC levels measured by both the reference and index techniques were 2 mg/dL (IQR: 0.97-16.25) and 2 mg/dL (IQR: 0.90-15.22), respectively, with no significant statistical difference (p = 0.536). 72 (77 %) of the patients had a BEC level below the legal driving limit of 20 mg/dL. Bland-Altman analysis, performed on these patients, revealed a small negative bias, -0.116 mg/dL with a standard deviation of 1.13 mg/dL. The upper and lower limit of the agreement was 2.092 and -2.323 respectively. Conclusion: In patients with a BEC level of less than 20 mg/dL, using ethanol-containing antiseptics before blood sampling does not lead to erroneously elevated BEC levels.

3.
Acta Neurol Belg ; 2024 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-38642294

RESUMEN

AIM: We aimed to describe the computed tomography (CT) and magnetic resonance (MR) imaging findings of intracranial extra-axial chondroma. MATERIAL AND METHODS: We retrospectively evaluated the imaging findings of CT and MR examinations of six patients (three men and three women, aged 21-66 years) with histopathological diagnoses of intracranial extra-axial chondroma. RESULTS: Four tumors were located in the frontal region and two in the cavernous sinus. All the tumors showed low signals on diffusion-weighted images and high signals on apparent diffusion coefficient maps without restricted diffusion. There was no perifocal edema in all the tumors. Cavernous sinus chondromas were associated with bone erosion and anterior displacement of the internal carotid arteries, but without calcification. Calcification was present in all frontal chondromas. All the tumors revealed low signals on T1-weighted MR images. Frontal chondromas revealed mixed signals, but cavernous sinus chondromas were brightly hyperintense on T2-weighted MR images. No enhancement was detected in the two chondromas. An intense homogeneous enhancement was detected in a cavernous sinus chondroma. CONCLUSION: The imaging appearances of frontal extra-axial chondromas and cavernous sinus chondromas may have different imaging appearances. Although there is a wide range of imaging findings, the absence of restricted diffusion, perifocal edema, enhancement, and presence of low signals on T1-weighted MR images in a well-circumscribed calcified extra-axial mass should suggest an intracranial chondroma.

4.
Balkan Med J ; 41(3): 167-173, 2024 05 03.
Artículo en Inglés | MEDLINE | ID: mdl-38454561

RESUMEN

Functional or non-secretory ectopic pituitary neuroendocrine tumors (PitNET) can form around the sella turcica during the development of the adenohypophysis by differentiating and detaching from the pharyngeal roof. These tumors usually appear in the sphenoid sinus, clivus, cavernous sinus, infundibulum, and suprasellar cistern. Ectopic PitNETs typically display the characteristic magnetic resonance imaging findings of pituitary adenomas. However, preoperative diagnosis of PitNETs is usually challenging because of the variety of clinical and imaging presentations, locations, and sizes. Ectopic suprasellar PitNETs resemble mass lesions in the pituitary stalk. Ectopic cavernous sinus of PitNETs are typically microadenomas in the medial wall. Ectopic sphenoclival tumors are characterized by more aggressive tumor activity than the other ectopic PitNETs. Although ectopic PitNETs are exceedingly rare, they should be considered as a differential diagnosis for masses around the sella turcica. Treatment of the disease should be individualized and may include medical care, surgical resection, gamma-knife radiosurgery, and radiotherapy.


Asunto(s)
Adenoma , Tumores Neuroendocrinos , Neoplasias Hipofisarias , Silla Turca , Humanos , Adenoma/diagnóstico por imagen , Adenoma/cirugía , Diagnóstico Diferencial , Imagen por Resonancia Magnética/métodos , Tumores Neuroendocrinos/diagnóstico , Neoplasias Hipofisarias/diagnóstico , Silla Turca/anomalías , Silla Turca/diagnóstico por imagen
5.
Heliyon ; 10(4): e25099, 2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-38380009

RESUMEN

Background: Older adults deserve special healthcare provision in every branch of medicine. Turkey currently does not have geriatric emergency medicine (GEM) subspecialty training. Thus, interprofessional training for healthcare professionals involved in GEM services is required. Team-based learning (TBL) seems suitable to implement such training. We aimed to develop and implement a training program for healthcare professionals engaged with GEM services, and evaluate the program considering teacher and learner satisfaction and knowledge retention. Methods: This was a design-based study in which a one-day GEM training program was developed based on the literature and expert opinions. The program was applied to 54 physicians, 98 nurses, 70 health officers, and 102 paramedics using a modified version of TBL. Teams included at least one representative from each profession. TBL was modified by adding a 1-h lecture and eliminating peer evaluation. Feedback forms, individual and group tests of TBL, and a retention test conducted six months later were used for program evaluation. Results: The mean group test score was higher than that of individual tests in all professions. Physicians' individual test scores were higher than those of other professions, but this difference disappeared in the group test. The retention test mean score was higher than the individual test mean score but lower than that of the group test. Teacher and learner satisfaction was high. Conclusion: We implemented a training program using a modified TBL approach to teach GEM to relevant healthcare professionals; it yielded promising results regarding knowledge gain and retention, as well as teacher and learner satisfaction. The instruction design and method used in this study can be applied to multidisciplinary team training.

7.
Childs Nerv Syst ; 40(4): 1277-1284, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38224363

RESUMEN

OBJECTIVE: Infantile myofibromatosis is a rare entity of childhood characterized by benign myofibroblastic tumors in the soft tissues, the bones, and occasionally the viscera. Solitary skeletal lesions are relatively uncommon. Calvarial involvement should be distinguished from more aggressive tumors for appropriate treatment. METHODS: We reviewed solitary infantile myofibroma of the calvarium and discussed the relevant computed tomography and magnetic resonance imaging findings along with differential diagnosis. A case study of the frontal bone in a 5-month-old girl was also presented. RESULTS: Fourteen cases were reviewed, including the current case. Of the 13 cases with known sex, eight were male and five female. The mean age was 3.03 with an age range of 0.41-9 years. Nine of the 14 tumors were in the frontal bone. The lesions were intradiploic with tabula interna and/or externa of the calvaria involvement. The mean largest diameter was 22.3 mm. Upon computed tomography, all the lesions were expansile and lytic, and hypoattenuated, isoattenuated or occasionally hyperatenuated. Calcification was not seen. On magnetic resonance imaging, most neoplasms were hypointense on T1-weighted and T2-weighted images. Neoplasms showed hypointense signal on diffusion-weighted imaging and hyperintense on apparent diffusion coefficient, without restricted diffusion in three cases. All lesions were intensely enhanced after gadolinium administration. Treatment was total surgical resection and recurrence was not observed during follow-up. CONCLUSIONS: Infantile myofibromas are rare, typically intradiploic expansile lytic lesions with tabula interna and/or externa involvement. Distinctive imaging features include the presence of hipointense signals on T2-weighted magnetic resonance images without restricted diffusion on diffusion-weighted imaging. A slow-growing, firm, painless, and nontender mass with supportive imaging findings should raise suspicion of the disease.


Asunto(s)
Miofibroma , Miofibromatosis , Femenino , Humanos , Lactante , Imagen de Difusión por Resonancia Magnética , Hueso Frontal/patología , Imagen por Resonancia Magnética , Miofibroma/patología , Miofibroma/cirugía , Miofibromatosis/diagnóstico , Miofibromatosis/patología , Miofibromatosis/cirugía
8.
Photodiagnosis Photodyn Ther ; 44: 103845, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37838233

RESUMEN

PURPOSE: Comparison the effect of conventional and pattern scan laser (PASCAL) panretinal photocoagulation (PRP) on macula and optic disk in diabetic retinopathy (DR). METHODS: This retrospective study included 57 patients. In the conventional laser group, PRP was completed using the LightMed LightLas 532 laser device in accordance with the ETDRS protocol. In the pattern laser group, it was completed in a single session using PASCAL device with 20 ms pulse duration and multispot pattern. Central macular thickness (CMT) and retinal nerve fiber layer (RNFL) thickness were evaluated before laser treatment and at 1, 6 and 12 months after treatment. RESULTS: There were 30 eyes in the conventional laser group and 27 eyes in the PASCAL group. There was no significant difference between the groups in terms of age (p = 0.560), sex (p = 0.866), duration (p = 0.498) and stage (p = 0.503) of diabetes, visual acuity (p = 0.104) and intraocular pressure (p = 0.963).In both groups, CMT increased significantly (p ˂0.001), while RNFL thickness decreased significantly (p ˂0.001) at 12 months. While CMT and mean RNFL thickness increased in the first month in both groups, it decreased progressively until the 12th month. CONCLUSION: Conventional and pattern laser systems used in the treatment of DR................ cause an increase in CMT and thinning of RNFL thickness in the long term. This change is more in the conventional laser group compared to the pattern laser.


Asunto(s)
Diabetes Mellitus , Retinopatía Diabética , Fotoquimioterapia , Humanos , Retinopatía Diabética/cirugía , Estudios Retrospectivos , Células Ganglionares de la Retina , Estudios de Seguimiento , Tomografía de Coherencia Óptica/métodos , Fotoquimioterapia/métodos , Fármacos Fotosensibilizantes , Coagulación con Láser/métodos , Rayos Láser
9.
J Refract Surg ; 39(7): 463-472, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37449509

RESUMEN

PURPOSE: To compare clinical outcomes and rotational stability of the toric implantable Collamer lens (TICL) and toric implantable phakic contact lens (TIPCL). METHODS: Charts were reviewed from January 2011 to January 2023 to identify all TICLs and TIPCLs implanted by a single surgeon. Implant size was generally chosen according to the manufacturer's recommendation, but 15 TIPCLs 0.25 mm larger than recommended to increase vaulting were included. RESULTS: Eighty-four TICLs and 98 TIPCLs were identified and yielded excellent refractive and visual results in eyes with high myopic astigmatism at the last follow-up visit. No case of acute glaucoma or cataract induction was observed. In total, 15 (8.2%) rotated lenses were recorded; 2 (2.4%) TICLs and 13 (13.3%) TIPCLs (P = .013). Eyes in both groups were similar in preoperative spherical equivalent, cylinder, white-to-white distance, anterior chamber depth (ACD), anterior chamber angle, and mean follow-up times (P = .925, .673, .822, .794, .358, and .873, respectively). Average TICL size was larger than TIPCL size (P < .001). Rotation of the lenses was positively correlated with cylinder and negatively correlated with ACD but not with vaulting (P = .001, r = 0.253; P = .011, r = -0.193; P = .488, r = -0.057; respectively). Vaulting was positively correlated with preoperative ACD (P ≤ .001, r = .329). In eyes with a rotated TIPCL, preoperative cylinder was higher and ACD was shallower than in eyes with a stable TIPCL (P = .001 and .007, respectively). Increasing the implant size had no significant effect on rotation rate (P = .685). CONCLUSIONS: Although both implants were safe and effective in highly myopic eyes, TICL rotated less frequently than TIPCL and required fewer secondary interventions. Rotation was correlated with preoperative cylinder and ACD but not lens vaulting. [J Refract Surg. 2023;39(7):463-472.].


Asunto(s)
Astigmatismo , Lentes Intraoculares , Miopía , Lentes Intraoculares Fáquicas , Humanos , Agudeza Visual , Implantación de Lentes Intraoculares/métodos , Refracción Ocular , Cámara Anterior , Miopía/cirugía , Astigmatismo/cirugía
10.
Jpn J Ophthalmol ; 67(3): 280-286, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37039947

RESUMEN

PURPOSE: To evaluate the relationship of the peripapillary retina nerve fiber layer (RNFL) and lamina cribrosa (LC) with diabetic retinopathy (DR) in type 2 diabetes mellitus (DM) cases. STUDY DESIGN: Prospective comparative study. METHODS: This study included 50 non-DR (Group 1), 55 non-proliferative diabetic retinopathy (NPDR) (Group 2), 28 DM cases with proliferative diabetic retinopathy (PDR) (Group 3) and 45 healthy volunteers (Group 4). All participants were evaluated with visual acuity, intraocular pressure (IOP) with Goldman applanation tonometry, anterior segment biomicroscopy, 24 - 2 visual field testing, and dilated fundus examination. Retinal nerve fiber layer (RNFL) thickness, lamina cribrosa thickness (LCT) and anterior lamina cribrosa depth (ALCD) were examined by spectral-domain optical coherence tomography (OCT). RESULTS: There was no difference between the groups in terms of age and gender. Visual acuity (p < 0.001) was significantly different between the groups, while IOP (p = 0.068) was similar. Mean (p = 0.010), superior-temporal (p = 0.024), and superior-nasal (p = 0.011) RNFL thickness decreased significantly in correlation with the stage of DR. LCT decreased significantly as the stage of DR progressed in both vertical and horizontal radial OCT scans (p < 0.001). ALCD was not different between groups (p = 0.954 for horizontal scan, p = 0.867 for vertical scan). CONCLUSION: Peripapillary RNFL and LCT significantly decreases as the DR stage progresses. The biomechanical effects of the LC may also be responsible for diabetes-induced neurodegeneration.


Asunto(s)
Diabetes Mellitus Tipo 2 , Retinopatía Diabética , Humanos , Retinopatía Diabética/complicaciones , Retinopatía Diabética/diagnóstico , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/diagnóstico , Estudios Prospectivos , Retina , Presión Intraocular , Tomografía de Coherencia Óptica/métodos
11.
Eur J Ophthalmol ; 33(1): 269-277, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35895295

RESUMEN

PURPOSE: To compare and evaluate the results of phacoemulsification surgery involving and not involving an ophthalmic-viscosurgical-device (OVD). METHODS: A prospective, randomized controlled trial included 60 eyes of 60 patients scheduled to receive phacoemulsification surgery. In order of presentation, patients were randomized into two groups to undergo different surgical techniques: the OVD-free group (n = 30) and the OVD group (n = 30). Each patient's operating time, total ultrasonography (U/S) time, cumulative dissipated energy (CDE), aspiration time, and volume of balanced salt solution (BSS) aspirated were recorded. At 1 day, 1 week, and 1 and 3 months postoperation, measurements of endothelial cell density (ECD) and intraocular pressure (IOP), were taken and compared between the groups. RESULTS: Total U/S time (p = .567) and CDE (p = .168) were similar between the groups. In the OVD group, operating time (p = .011), aspiration time (p < .001), and volume of BSS aspirated (p < .001) were greater than in the OVD-free group. The change in ECD between the groups was not statistically significant at all visits (p = .433, p = .147, p = .379, p = .534; respectively). Although IOP increased in the OVD group at 1 day postoperation (p = .001), no difference emerged between the groups at 3 months postoperation (p = .121). CONCLUSION: Phacoemulsification surgery without an OVD took less time than with the OVD and caused no significant loss in ECD. Surgeons concerned about elevated IOP following cataract surgery should apply the OVD-free method.


Asunto(s)
Extracción de Catarata , Catarata , Facoemulsificación , Humanos , Facoemulsificación/métodos , Implantación de Lentes Intraoculares/métodos , Estudios Prospectivos , Catarata/complicaciones
12.
Eur J Ophthalmol ; 33(3): 1459-1466, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36482707

RESUMEN

PURPOSE: To compare the effects of ranibizumab, aflibercept and bevacizumab treatments in treatment-naive diabetic macular edema(DME) patients with serous retinal detachment(SRD). MATERIAL AND METHODS: This is a retrospective, comparative study. In a sample of 86 eyes of 86 untreated DME patients with accompanying SRD, 23 patients were treated with ranibizumab (IVR), 28 patients with aflibercept (IVA), and 35 patients with bevacizumab (IVB). All were injected intravitreally once a month for a 3-month loading dose. Subsequently, all participants were evaluated every months and if neccessary they received additional intravitreal treatments.Mean changes in best corrected visual acuity (BCVA), central retinal thickness (CRT), and SRD height over the 6-months study period were compared. RESULTS: At baseline, the groups did not differ in mean BCVA,CRT and SRD height. During the first 3 months, in IVA group the mean decrease in CRT and SRD height were significantly more than in the other two groups (p < 0.05 for all). However, these differences disappeared at 6 months.The number of injections was similar between the groups during the study period. CONCLUSION: In patients with DME accompanied by SRD, IVA is a more advantageous option in terms of reduction in CRT and SRD height from baseline to 3 months. In the 6-month period of treatment, IVR, IVA and IVB therapies areanatomically and functionally similar and significant effective modalities.


Asunto(s)
Diabetes Mellitus , Retinopatía Diabética , Edema Macular , Desprendimiento de Retina , Humanos , Ranibizumab/uso terapéutico , Edema Macular/diagnóstico , Edema Macular/tratamiento farmacológico , Edema Macular/etiología , Retinopatía Diabética/complicaciones , Retinopatía Diabética/diagnóstico , Retinopatía Diabética/tratamiento farmacológico , Bevacizumab/uso terapéutico , Inhibidores de la Angiogénesis/uso terapéutico , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/tratamiento farmacológico , Desprendimiento de Retina/etiología , Estudios Retrospectivos , Inyecciones Intravítreas , Agudeza Visual , Proteínas Recombinantes de Fusión/uso terapéutico , Diabetes Mellitus/tratamiento farmacológico
13.
Sensors (Basel) ; 22(23)2022 Nov 25.
Artículo en Inglés | MEDLINE | ID: mdl-36501887

RESUMEN

In this study, principal component analysis and k-means clustering (PCAKM) methods for synthetic aperture radar (SAR) data are analyzed to reduce the sensitivity caused by changes in the parameters and input images of the algorithm, increase the accuracy, and make an improvement in the computation time, which are advantageous for scoring in the follow-up plan. Although there are many supervised methods described in the literature, unsupervised methods may be more appropriate in terms of computing time, data scarcity, and explainability in order to supply a trustworthy system. We consider the PCAKM algorithm, which is used as a benchmark method in many studies when making comparisons. Error metrics, computing times, and utility functions are calculated for 22 modified PCAKM regarding difference images and filtering methods. Various images with different characteristics affect the results of the configurations. However, it is evident that the PCAKM becomes less sensitive and more accurate for both the overall results and image results. Scoring by utilizing these results and other map information is a gap and innovation. Obtaining a change map in a fast, explainable, more robust and less sensitive way is one of the aims of our studies on scoring points in the follow-up plan.


Asunto(s)
Algoritmos , Radar , Análisis por Conglomerados , Análisis de Componente Principal
14.
Beyoglu Eye J ; 7(1): 30-34, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35265799

RESUMEN

Objectives: To determine whether treatment time of congenital nasolacrimal duct obstruction (CNLDO) has any effect on refractive amblyopia risk factors (ARFs). Methods: This is a cross-sectional study and it was conducted in the Pediatric Ophthalmology Department at Kayseri City Training and Research Hospital. The ages of 174 patients who underwent probing were obtained from electronic medical charts and used to divide the patients into two groups: an early-probing group (<24 months old) and a late-probing group (≥24 months old). After inclusion criteria were applied, a pediatric ophthalmologist examined 189 eyes of the 174 patients. The groups were evaluated and compared for cycloplegic refractive errors. Results: The median age of patients who underwent probing was 30 months (ranging from 11-44 months). A total of 40 of 189 eyes (21.2%) examined had refractive ARFs, which were significantly more prevalent in the late-probing group (p=0.044). The ARFs associated with astigmatism were greater in the late- versus the early-probing group (p=0.037), whereas no other refractive ARFs or anisometropia differed between the groups (p=0.887 for myopia, p=0.364 for hyperopia, and p=0.672 for anisometropia). Astigmatic ARFs were significantly higher in the late-treatment group. Conclusion: Astigmatic ARFs were significantly higher in the late-treatment group. Therefore, ophthalmologists should regularly monitor the refractive status of children with CNLDO, especially those treated after 24 months old.

15.
Ulus Travma Acil Cerrahi Derg ; 29(1): 46-51, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36588510

RESUMEN

BACKGROUND: This study aims to evaluate how the coronavirus disease 2019 (COVID-19) pandemic has impacted the demographics and diagnoses of patients presenting at a pediatric ophthalmology emergency department (POED) in Türkiye. METHODS: The electronic medical records of patients <18 years old who presented at the POED from March 15 to May 31, 2020 (first stay-at-home period), and from November 15 to December 31, 2020 (second stay-at-home period), were retrospectively scanned. The demographic data and clinical diagnoses from those periods and the same periods in 2019 were compared. RESULTS: No significant differences emerged regarding age (p=0.067) or sex (p=0.268) among the 839 pediatric patients who visited the POED in 2019 (n=510) versus 2020 (n=329). Compared with 2019, 50.63% of fewer patients visited the POED in the first stay-at-home period (i.e., 322 vs. 159) and 9.66% fewer visited in the second period (i.e., 188 vs. 170). The diagnoses in 2019 and 2020 were similar, with foreign body being the most common diagnosis, followed by ocular trauma. CONCLUSION: Amid the COVID-19 pandemic, fewer pediatric patients visited the POED during the first and second stay-at-home periods than during the same periods in 2019, although the difference was less during the second period. Demographic data and diagnoses from year to year, however, were similar. These findings could aid clinicians in developing new strategies and guidelines for POED management in extraordinary situations such as pandemics.


Asunto(s)
COVID-19 , Humanos , Niño , Adolescente , COVID-19/epidemiología , Pandemias , SARS-CoV-2 , Estudios Retrospectivos , Servicio de Urgencia en Hospital , Incidencia
16.
Nat Med ; 27(12): 2165-2175, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34887573

RESUMEN

Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage, a sudden-onset disease that often causes death or severe disability. Although genome-wide association studies have identified common genetic variants that increase IA risk moderately, the contribution of variants with large effect remains poorly defined. Using whole-exome sequencing, we identified significant enrichment of rare, deleterious mutations in PPIL4, encoding peptidyl-prolyl cis-trans isomerase-like 4, in both familial and index IA cases. Ppil4 depletion in vertebrate models causes intracerebral hemorrhage, defects in cerebrovascular morphology and impaired Wnt signaling. Wild-type, but not IA-mutant, PPIL4 potentiates Wnt signaling by binding JMJD6, a known angiogenesis regulator and Wnt activator. These findings identify a novel PPIL4-dependent Wnt signaling mechanism involved in brain-specific angiogenesis and maintenance of cerebrovascular integrity and implicate PPIL4 gene mutations in the pathogenesis of IA.


Asunto(s)
Encéfalo/irrigación sanguínea , Ciclofilinas/genética , Aneurisma Intracraneal/genética , Neovascularización Patológica/genética , Proteínas de Unión al ARN/genética , Ciclofilinas/fisiología , Humanos , Mutación , Proteínas de Unión al ARN/fisiología , Secuenciación del Exoma , Vía de Señalización Wnt/fisiología
17.
Growth Horm IGF Res ; 60-61: 101424, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34404020

RESUMEN

PURPOSE: To investigate anterior segment parameters (ASPs) and dry eye disease (DED), including the status of the meibomian glands, in patients with acromegaly. METHODS: In this cross-sectional, comparative study, 36 acromegaly patients and 40 healthy sex- and age-matched controls were included. Participants received a comprehensive ophthalmological examination, including intraocular pressure measurements with Goldmann applanation tonometry (IOPGAT) and central corneal thickness corrected intraocular pressure (IOPCCT) measurements, and were evaluated for ASPs and DED. For ASPs, white-to-white (WTW), apical (ACT) and thinnest corneal thickness (TCT), corneal volume (CV), keratometry readings (K1, K2, and Kmean), anterior chamber depth (ACD) and volume (ACV), and iridocorneal angle (ICA) were obtained via Sirius topography. DED was assessed with Schirmer's test, tear breakup time (TBUT), and Ocular Surface Disease Index (OSDI) scores. Meibography scores (MSs) were obtained with the Sirius topography device. RESULTS: Patients had higher mean IOPGAT (P = .006), IOPCCT (P = .01), ACT (P = .024), and TCT (P = .005) but narrower ICA (P = .014) than controls. Although Schirmer's test did not differ between the groups (P = .442), patients had higher OSDI (P < .001), higher MS (P = .001), and shorter TBUT (P = .002). CONCLUSION: Patients with acromegaly have greater IOP, greater corneal thickness, but narrower ICA than healthy individuals, as well as DED with increased MSs, which suggests meibomian gland dysfunction.


Asunto(s)
Acromegalia/complicaciones , Segmento Anterior del Ojo/patología , Córnea/patología , Topografía de la Córnea/métodos , Síndromes de Ojo Seco/patología , Presión Intraocular , Tomografía de Coherencia Óptica/métodos , Adulto , Segmento Anterior del Ojo/diagnóstico por imagen , Estudios de Casos y Controles , Córnea/diagnóstico por imagen , Estudios Transversales , Síndromes de Ojo Seco/diagnóstico por imagen , Síndromes de Ojo Seco/etiología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Pronóstico
18.
Arq Bras Oftalmol ; 84(6): 538-542, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34431875

RESUMEN

PURPOSE: This study aimed to investigate and compare the changes in corneal aberrations and accommodative amplitudes between patients with multiple sclerosis and normal individuals. METHODS: We included 20 patients who were previously diagnosed with multiple sclerosis with optic nerve involvement (multiple sclerosis group) and 20 healthy sex- and age-matched individuals (control group). We only selected those who were under 40 years old because accommodation in individuals over 40 years old significantly deteriorates. We measured the accommodative amplitude in diopters by minus lens test and evaluated the higher-order aberrations by using the iDesign aberrometer. Then, we compared the accommodative amplitude and the root mean square of higher-order aberrations between the groups. RESULTS: The mean age of the multiple sclerosis and control groups were 35.25 ± 4.52 and 32.28 ± 6.83 years, respectively (p=0.170). The accommodative amplitude was 4.05 ± 1.25 D in the multiple sclerosis group and 6.00 ± 1.03 D in the control group, with a statistically significant difference (p<0.001). Meanwhile, the root mean square of higher-order aberrations was not significantly different between the groups (multiple sclerosis group, 0.44 ± 0.22; control group, 0.43 ± 0.10, p<0.824). Moreover, aberration changes had no statistically significant differences between the two groups at baseline and at 5 D stimulus. CONCLUSIONS: The accommodative amplitude was decreased in patients with multiple sclerosis, suggesting the possible cause of transient visual impairments in these patients. However, this accommodative amplitude did not demonstrate a significant difference in terms of higher-order aberration change during accommodation between such patients and the controls.


Asunto(s)
Cristalino , Esclerosis Múltiple , Acomodación Ocular , Adulto , Córnea , Humanos , Esclerosis Múltiple/complicaciones , Nervio Óptico , Refracción Ocular
19.
Int Ophthalmol ; 41(11): 3789-3796, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34259960

RESUMEN

PURPOSE: To evaluate whether the systemic oxidative stress biomarkers increased in patients with vitreomacular traction syndrome (VMT). METHODS: This study compared 25 patients diagnosed with VMT with 20 healthy controls. As a biomarker of systemic oxidative stress, malondialdehyde (MDA) was measured. Total oxidant status (TOS) and total antioxidant status (TAS) were measured to evaluate the systemic oxidant status. RESULTS: Serum MDA values were significantly higher among the patients (p < 0.001). The ideal cut-off value for MDA was determined to be 22.1 µmol/L, with 80% sensitivity and 75% specificity. The between-group differences were not statistically significant for TOS or TAS (p = 0.326 and p = 0.698, respectively). CONCLUSION: Increased MDA levels suggest that systemic oxidative stress may play a role in VMT.


Asunto(s)
Estrés Oxidativo , Tracción , Antioxidantes , Biomarcadores , Humanos , Oxidantes
20.
Int Ophthalmol ; 41(11): 3559-3569, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34170478

RESUMEN

PURPOSE: The aim of this study was to analyze the segmented layers of the macula in patients with obstructive sleep apnea and hypopnea syndrome (OSAS) using spectral domain optical coherence tomography (SD-OCT). MATERIAL AND METHODS: This single-center, cross-sectional study included 31 OSAS patients and 31 age- and gender-matched control subjects. SD-OCT and overnight polysomnography were performed on all participants. The OSAS patients were categorized according to disease severity (mild, moderate, severe). The groups were compared in respect of each segmented macular layer through the use of segmentation software on SD-OCT. Total retinal thickness (RT), peripapillary retina nerve fiber layer (pRNFL) thickness, central corneal thickness (CCT) and intraocular pressure (IOP) values were also compared between the groups. RESULTS: Mean CCT (p:0.015) and nasal pRNFL values (p:0.042) were lower and mean IOP was higher (p:0.018) in OSAS patients than in the control group. The statistical analysis revealed significantly thinner total RT, inner retinal layers (IRL), outer retinal layers (ORL), photoreceptor layers (PRL) and ganglion cell layer (GCL) thicknesses in the OSAS groups compared to healthy subjects. No significant differences were found between the three OSAS subgroups in all segmented macular layers and pRNFL measurements. CONCLUSION: The results of this study showed relatively thinner nasal pRNFL, total RT, IRL, ORL, PRL and GCL layers in OSAS patients compared to healthy subjects. Moreover, this thinning of the segmented layers was unrelated to disease severity.


Asunto(s)
Células Ganglionares de la Retina , Apnea Obstructiva del Sueño , Estudios Transversales , Humanos , Fibras Nerviosas , Retina , Índice de Severidad de la Enfermedad , Apnea Obstructiva del Sueño/diagnóstico , Tomografía de Coherencia Óptica
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