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Our previous studies showed that in patients with brain diseases, neurotrophic factors in lacrimal fluid (LF) may change more prominently than in blood serum (BS). Since glial cell line-derived neurotrophic factor (GDNF) is involved in the control of neuronal networks in an epileptic brain, we aimed to assess the GDNF levels in LF and BS as well as the BDNF and the hypothalamic-pituitary-adrenocortical and inflammation indices in BS of patients with focal epilepsy (FE) and epilepsy and comorbid depression (FE + MDD) and to compare them with those of patients with major depressive disorder (MDD) and healthy controls (HC). GDNF levels in BS were similar in patients and HC and higher in FE taking valproates. GDNF levels in LF were significantly lower in all patient groups compared to controls, and independent of drugs used. GDNF concentrations in LF and BS positively correlated in HC, but not in patient groups. BDNF level was lower in BS of patients compared with HC and higher in FE + MDD taking valproates. A reduction in the GDNF level in LF might be an important biomarker of FE. Logistic regression models demonstrated that the probability of FE can be evaluated using GDNF in LF and BDNF in BS; that of MDD using GDNF in LF and cortisol and TNF-α in BS; and that of epilepsy with MDD using GDNF in LF and TNF-α and BDNF in BS.
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Trastorno Depresivo Mayor , Epilepsias Parciales , Epilepsia , Humanos , Biomarcadores , Factor Neurotrófico Derivado del Encéfalo , Depresión , Trastorno Depresivo Mayor/complicaciones , Epilepsia/complicaciones , Factor Neurotrófico Derivado de la Línea Celular Glial , Factor de Necrosis Tumoral alfaRESUMEN
Purpose: To study glial cell line-derived neurotrophic factor (GDNF) concentrations in aqueous humor (AH), lacrimal fluid (LF), and blood serum (BS) in patients with age-related cataract and primary open-angle glaucoma (POAG). Methods: GDNF was studied in AH, LF, and BS in 47 patients with age-related cataract, and 30 patients with POAG combined with cataract (one eye in each person). AH was sampled during cataract surgery. Results: GDNF concentration (pg/ml) in patients with POAG and cataract was lower than in cataract-only patients (p<0.001), both in AH (46.3±31.1 versus 88.9±46.9) and in LF (222±101 versus 344±134). The difference was not significant for the GDNF concentration in BS (194±56 versus 201±45). In the earlier (early and moderate) stages of POAG, compared to later (advanced and severe) stages, GDNF concentration was significantly lower in LF (176±99 versus 258±91; p = 0.027) and in BS (165±42 versus 217±55; p = 0.017), while GDNF concentration in AH showed an insignificant difference (40.0±25.7 versus 51.1±34.7). In patients with POAG, GDNF concentration in LF and BS was inversely correlated with the Humphrey visual field index: Pearson's correlation coefficient r = -0.465 (p = 0.01) for LF and r = -0.399 (p = 0.029) for BS. When compared to the cataract group, patients in the earlier stages of POAG showed significantly lower GDNF concentrations in all studied biologic fluids. Conclusions: Compared to patients with cataract only, GDNF levels are lower in the AH and LF of patients with POAG and cataract, especially at earlier stages of the disease (at these stages, the GDNF level in BS is also lower). At earlier stages of POAG, compared to later stages, GDNF content is lower in LF and BS. These data could serve as a reason for the therapeutic use of GDNF in patients with POAG.
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Extracción de Catarata , Catarata , Glaucoma de Ángulo Abierto , Humor Acuoso , Glaucoma de Ángulo Abierto/cirugía , Factor Neurotrófico Derivado de la Línea Celular Glial , HumanosRESUMEN
PURPOSE: To evaluate ciliary neurotrophic factor (CNTF) level in blood serum (BS) and lacrimal fluid (LF) of people with epilepsy (PWE). METHODS: A case-control study of 72 consecutive patients with focal epilepsy (cases, epilepsy group) and 60 age- and gender-matched healthy volunteers (controls) was performed. Based on comorbid depression, two subgroups of PWE were formed. CNTF level was measured by an enzyme-linked immunosorbent assay (ELISA) in the BS and LF. For measurements of low CNTF levels in the BS, the methodology previously improved by the authors was applied. RESULTS: As compared to controls, CNTF level (pg/mL) in PWE was increased both in the BS (7.0±2.9 vs. 3.7±2.0, P<0.000) and in LF (34.0±8.0 vs. 30.6±4.8, P=0.005). No significant correlation was found between CNTF level in the BS and LF either in PWE or in controls. No impact of comorbid depression or any demographic or clinical parameters studied on CNTF level in the BS or LF of PWE could be detected. CONCLUSIONS: In patients with focal epilepsy, CNTF level is increased both in the BS and LF, though without correlation between them. No association of CNTF levels with age, gender, or clinical parameters, as well as depression occurrence, was found. High CNTF levels in the BS and LF could be considered as non-invasive biomarkers of focal epilepsy.
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Factor Neurotrófico Ciliar , Epilepsias Parciales , Lágrimas/química , Biomarcadores , Estudios de Casos y Controles , Factor Neurotrófico Ciliar/análisis , Factor Neurotrófico Ciliar/sangre , Epilepsias Parciales/diagnóstico , HumanosRESUMEN
SIGNIFICANCE: Optical coherence tomography (OCT) measurements of peripapillary retinal nerve fiber layer (pRNFL) play an important role in the diagnosis of glaucoma and optic atrophy. However, the interpretation of these measurements in patients with refractive errors, especially of a high degree, presents great difficulties. Optical coherence tomography instruments from most manufacturers do not take into account the effect of refractive errors, especially of a high degree, on quantitative measurements of pRNFL. PURPOSE: The aim of this study was to develop a simple and easy method for evaluation of average pRNFL in eyes with refractive errors. METHODS: Average pRNFL was measured by Cirrus HD-OCT (Carl Zeiss Meditec Inc., Dublin, CA) in 183 healthy White subjects (183 eyes) older than 40 years, with an axial length of the eye from 22.5 to 24.5 mm and spherical equivalent of refraction from -1.63 to 2.0 D. RESULTS: For an average pRNFL, normative database of eyes with refraction close to emmetropia was constructed. The calculated first and fifth percentiles for age groups 41 to 50, 51 to 60, 61 to 70, and 71 to 85 years were 81 and 83, 79 and 81, 78 and 80, and 76 and 79 µm, respectively. Littmann-Bennett formula was modified to calculate a table containing first and fifth percentiles for eyes with axial lengths of 19 to 30 mm in the same age groups. CONCLUSIONS: For the correct interpretation of the measurements of pRNFL in patients with refractive errors, an original table was proposed, which provides a quick assessment of the results obtained on the Cirrus HD-OCT device. The proposed new formulas make it easy to calculate a similar table for any optical coherence tomography device using existing databases or after collecting a normative database of eyes with refraction close to emmetropia.
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Disco Óptico , Errores de Refracción , Adulto , Humanos , Fibras Nerviosas , Errores de Refracción/diagnóstico , Células Ganglionares de la Retina , Tomografía de Coherencia Óptica/métodosRESUMEN
PURPOSE: To compare the results of treatment of idiopathic full-thickness macular holes (MHs) with and without the use of autologous platelet-rich plasma (APRP). METHODS: This partially retrospective study included 152 patients (152 eyes) with MHs operated in the years 2010-2014 using conventional technology with internal limiting membrane peeling (control group) and 62 patients (62 eyes), operated by the same surgeons in 2015-2017 with additional application of APRP on MH (platelet group). Pre and postoperative best-corrected visual acuities (BCVA) were recorded, and retinal microstructure was studied using optical coherence tomography. Thirty-seven patients in the platelet group and 80 controls were followed for at least 12 months (for visual outcomes 15 controls were followed for 15-24 months). The data of 72 controls (72 eyes) were analyzed retrospectively. RESULTS: The minimum diameter of the MH in the platelet group was larger than in controls: 454 ± 186 vsersus 381 ± 148 µm (P = 0.003). Despite this, all MHs in the platelet group were closed, while in the control group 11 holes (7.2%) remained open (P = 0.036). The final mean BCVA, standardized by the minimum diameter of the macular hole, was higher in the platelet group by 3.9 ETDRS letters (P = 0.012). After surgery with APRP, foveal hyperreflective lesion (presumably glial proliferation) was found, which persisted in most large MHs, but gradually disappeared in small and most medium MHs. CONCLUSION: The use of APRP significantly improves the anatomical and functional results of treatment of idiopathic MHs. In very large MHs, APRP presumably enhances glial proliferation, which ensures their closure.
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Plasma Rico en Plaquetas , Perforaciones de la Retina , Humanos , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/cirugía , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Agudeza Visual , VitrectomíaRESUMEN
PURPOSE: The present study aimed to determine the main cause of ganglion cell-inner plexiform layer (GCIPL) thinning in long myopic eyes. METHODS: Optical coherence tomography was performed in 53 subjects with moderate or high myopia (53 eyes; myopia group) and 20 emmetropic subjects (20 eyes; control group). All subjects were over the age of 40 years. RESULTS: Compared groups did not differ in age, sex, and radius of corneal curvature. Spherical equivalent in the myopia group was - 8.2 ± 3.3 D (from - 4.0 to - 22.6 D). A specialized computer program was created to study the effect of the ocular magnification on the average GCIPL thickness. Based on the data of control subjects, a mathematical model was constructed, which showed a very little effect of ocular magnification on GCIPL thickness. It was confirmed by real measurements. After correction by the program, GCIPL thickness in myopes increased only slightly (from 73.9 ± 5.2 to 75.0 ± 5.2 µm, P < 0.000) remaining much lower than in controls (79.7 ± 6.3 µm, P < 0.000). Modeling myopic eye as an ellipsoid showed a significant increase in its surface area compared with emmetropia. Retinal stretching associated with an increase in the surface area of the eyeball explained most of the thinning of GCIPL in myopia. CONCLUSIONS: Ocular magnification is responsible for only a minor part of GCIPL thinning in myopia. Stretching of the retina in a long eye is the main cause of the GCIPL thinning. Myopic normative databases should be created to account for the GCIPL thinning in highly myopic eyes.
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Miopía/diagnóstico , Enfermedades del Nervio Óptico/diagnóstico , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Campos Visuales/fisiología , Adulto , Femenino , Humanos , Presión Intraocular , Masculino , Persona de Mediana Edad , Miopía/complicaciones , Miopía/fisiopatología , Fibras Nerviosas/patología , Enfermedades del Nervio Óptico/etiología , Enfermedades del Nervio Óptico/fisiopatologíaRESUMEN
Purpose: To study the ciliary neurotrophic factor (CNTF) concentration in the aqueous humor (AH), lacrimal fluid (LF), and blood serum (BS) in patients with age-related cataract and primary open-angle glaucoma (POAG). Methods: CNTF concentrations were studied in 61 patients with age-related cataract, 55 patients with POAG combined with cataract, and 29 healthy controls (one eye in each person). Preliminary experiments permitted us to extend the minimum quantifiable value of the CNTF Quantikine enzyme-linked immunosorbent assay (ELISA) kit to 2.5 pg/ml. Results: The levels of CNTF in LF and BS did not differ in patients with cataract and controls. The CNTF concentration (pg/ml) in patients with POAG and cataract was lower than in patients with cataract (p<0.001) in AH (39.9±26.2 versus 57.2±25.6) and in LF (25.7±14.9 versus 39.9±18.0). The differences were not statistically significant for the CNTF level in BS (5.45±4.72 versus 5.96±4.92) and the AH/LF ratio (1.69±1.05 versus 1.58±0.70). In the patients with POAG, the AH level of CNTF correlated with the visual field index (Pearson's correlation coefficient r = 0.35, p = 0.01). A statistically significant decrease in the AH and LF concentrations of CNTF was observed in patients in all stages of POAG compared with the cataract group. This decrease was particularly prominent in patients with severe glaucoma. Compared to patients with combined early and moderate stages of disease patients with advanced glaucoma showed an insignificant reduction in the median CNTF concentration in AH and LF. The serum CNTF concentration did not show any dependence on the glaucoma stage. The CNTF concentration in the AH strongly correlated with the CNTF concentration in the LF (r=0.71, p<0.000). A formula was suggested to calculate the concentration of CNTF in AH based on the CNTF concentration in LF. Conclusions: The CNTF concentration is reduced in the AH and LF of patients with POAG, especially in those with severe visual field loss. The CNTF concentration in AH and LF showed a strong correlation, and this phenomenon opens up new options for a noninvasive estimation of the CNTF concentration in AH. The CNTF concentration established in the AH, LF, and BS of patients with age-related cataract can serve as normative data for persons older than 50 years old.
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Catarata/metabolismo , Factor Neurotrófico Ciliar/metabolismo , Glaucoma de Ángulo Abierto/metabolismo , Anciano , Anciano de 80 o más Años , Humor Acuoso/metabolismo , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Masculino , Persona de Mediana Edad , Lágrimas/metabolismoRESUMEN
PURPOSE: There are no data in the English literature about the epidemiology of epilepsy in the large countries in the Asian region of the former Soviet Union. This paper presents the results of epidemiological studies of active epilepsy in the population 14years of age and older in the Province of South Kazakhstan. METHODS: The study population consisted of 306.44 thousand persons: 139.42 in the urban Enbekshinskiy district of the city of Shymkent and 167.02 in the rural Sairam district. To collect patient's data, multiple medical sources were used. For each person with epilepsy (PWE), a questionnaire was completed by members of the research team. Clinical profiles, seizure type, clinical syndrome, etiology, seizure frequency, therapy, educational level, and social status were abstracted. RESULTS: Overall, 1351 PWE were identified: 459 in the urban district and 892 in the rural district. The age-adjusted prevalence of epilepsy was 3.14/1000 (CI95%: 2.86-3.45) in the urban district and 4.95/1000 (CI95%: 4.62-5.30) in the rural district. Prevalence for men was higher than for women. Focal seizures predominated in both regions. Traumatic brain injury was the most frequently identified cause of epilepsy. The other important antecedents were pre/perinatal disorders, CNS infection, and cerebrovascular disease. Half of PWE experienced more than 12seizures per year. Substantial social impacts of epilepsy were observed: 44% of PWE received disability pensions from the government; only 15.5% were employed. About a quarter of all PWE were not taking AEDs at the time of the record review. For those on treatment, regimens were frequently suboptimal. CONCLUSION: In the first study performed according to the guidelines for epidemiologic studies on epilepsy of ILAE in the Asian part of the former Soviet Union, poor seizure control and a substantial treatment gap were identified. The need for improvement of epilepsy care was highlighted, especially in the rural regions.
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Epilepsia/epidemiología , Epilepsia/terapia , Población Rural , Población Urbana , Adolescente , Adulto , Femenino , Hospitalización/tendencias , Humanos , Kazajstán/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Población Rural/tendencias , Encuestas y Cuestionarios , Resultado del Tratamiento , Población Urbana/tendencias , Adulto JovenRESUMEN
PURPOSE: To assess the knowledge and attitudes in Moscow towards people with epilepsy (PWE). METHODS: Data were collected from 1167 adults, permanent residents of Moscow, who were interviewed. A 10-item questionnaire was used addressing three major domains: familiarity with epilepsy (2 questions), understanding of epilepsy (5 questions), and attitude towards the PWE (3 questions). Results were standardized to the Moscow population. RESULTS: The study population was generally well informed about epilepsy. About 80% "has heard" of epilepsy; however, personal acquaintance with PWE was reported by less than half of the study participants. The level of understanding of the disease and its etiology was quite low. About 60% of the survey participants believed that epilepsy was a type of mental retardation. One-third (34%) of respondents were afraid to stay in the proximity of PWE. Only 38% of the survey participants considered epilepsy to be curable; men significantly less frequently than women. Overall, the level of understanding of epilepsy was proportional to the level of education of respondents. Negative attitudes towards PWE were demonstrated in a significant part of the population. Almost half of the respondents would object to their child playing or studying with a child who has epilepsy and more than half (57%) were against the marriage of their daughter or son to a person with epilepsy. Two-fifths of the respondents ranked epilepsy as the "least preferred" of the six chronic diseases for a colleague. CONCLUSION: This is the first study on awareness and attitudes to PWE in the adult population of Moscow. The study demonstrated that the general public is familiar with epilepsy, but has a rather low level of understanding of essential aspects of the disease. There is an overall high level of negative attitudes towards PWE in Russia, creating a need for targeted interventions. These results reinforced the importance of public education in reducing the stigma of epilepsy.
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Epilepsia/epidemiología , Epilepsia/psicología , Conocimientos, Actitudes y Práctica en Salud , Estigma Social , Encuestas y Cuestionarios , Adolescente , Adulto , Anciano , Actitud Frente a la Salud , Concienciación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Moscú/epidemiología , Distribución Aleatoria , Federación de Rusia/epidemiología , Adulto JovenRESUMEN
BACKGROUND: Cerebral microvascular dysfunction is a promising area for research into the pathogenesis of major depressive disorder (MDD) and bipolar disorder (BD). Despite the scientific and clinical potential of studying microvascular dysfunction, progress in this area has long been hampered by the lack of methods to study microvessels intravitally. AIMS: The aim of the present study was to search for potential optical coherence tomography (OCT) and OCT-angiography (OCTA) biomarkers of BD and MDD. METHODS: One hundred and five consecutive patients with a current depressive episode were enrolled in the study (39 - BD and 66 - MDD). In addition, forty-one generally healthy subjects were enrolled as a control group. Only the right eye was examined in all subjects. Structural OCT and OCTA scans with signal strength ≥7 were included. RESULTS: Structural OCT measurements showed no significant differences between the groups. OCTA measurements of foveal avascular zone (FAZ), area and skeleton density showed a decrease in the retinal capillary bed in BD patients, whereas OCTA values in MDD patients did not differ from the control group. Several significant differences were found between the BD and control groups. In the BD group, the FAZ of the deep capillary plexus was increased, reflecting a reduction in capillary perfusion in the central subfield of this plexus. CONCLUSIONS: OCTA measurements of FAZ, area and skeleton density showed a decrease in the retinal capillary bed in BD patients, whereas OCTA values in MDD patients did not differ from the control group.
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Trastorno Bipolar , Trastorno Depresivo Mayor , Tomografía de Coherencia Óptica , Humanos , Trastorno Depresivo Mayor/diagnóstico por imagen , Trastorno Bipolar/diagnóstico por imagen , Trastorno Bipolar/fisiopatología , Femenino , Masculino , Adulto , Persona de Mediana Edad , Vasos Retinianos/diagnóstico por imagen , Vasos Retinianos/patología , Fóvea Central/diagnóstico por imagen , Fóvea Central/irrigación sanguíneaRESUMEN
OBJECTIVE: We hypothesized that PWE have an increased risk to acquire COVID-19. This was a historical cohort study to determine COVID-19 incidence, severity, mortality and risk factors in adults with active epilepsy (PWE) compared to residents of Moscow without epilepsy matched by age, gender, and region of residence - Moscow Community Comparisons (MCC). METHODS: Subjects were derived from a cohort of adult PWE and a cohort of age- and gender-matched population-based MCC without epilepsy identified in 2018. Incidence of COVID-19 was compared in each cohort from 01.03.2020 through 28.02.21. Influence of age, gender, comorbidities, and for the PWE cohort, epilepsy type, seizure frequency, and number/class of antiseizure medications was evaluated using Pearson's chi-squared test and logistic regression analysis. RESULTS: We found 887 COVID-19 positive people in the two cohorts: 156 in PWE (51.8 ± 19.7 years) and 731 in MCC (52.0 ± 17.3 years,). COVID-19 incidence was lower in PWE: 13.8 % versus 18.7 % in MCC (p = 0.0002). In PWE no specific epilepsy related variables influenced incidence. Despite no difference in severity distribution in PWE versus MCC, hospitalization rate (37.6 % versus 25.5 %, p = 0.002), disease duration (57.1 % versus 47.1, p = 0.023), and mortality (10.9% versus 4.2 %, p = 0.0009) were significantly higher in PWE. Age and number of comorbidities significantly influenced COVID-19 incidence, severity, duration, and outcomes in both cohorts. SIGNIFICANCE: Incidence of COVID-19 in PWE in Moscow was significantly lower compared to MCC. Age and comorbidities were strongly associated with severity, duration and outcomes of COVID-19 for all infected persons. Higher mortality in PWE may be explained by a higher number of comorbidities.
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COVID-19 , Epilepsia , Adulto , Humanos , Incidencia , Moscú/epidemiología , Estudios de Cohortes , COVID-19/epidemiología , Epilepsia/epidemiologíaRESUMEN
Background and objectives: Post-stroke epilepsy (PSE) is a significant concern in the elderly population, with stroke being a leading cause of epilepsy in this demographic. Several factors have shown consistent associations with the risk of developing PSE, including cortical lesions, initial stroke severity, younger age, and the occurrence of early seizures. The primary objectives of this study were two-fold: (1) to determine the incidence of PSE and (2) to identify the risk factors associated with PSE in a prospective cohort of post-stroke patients. Methods: A prospective single-hospital study was conducted, involving patients diagnosed with acute ischemic and hemorrhagic stroke. The patients were followed up for 2 years (or until death) from the time of admission. Data about seizure occurrence and recurrent stroke were collected. Kaplan-Meyer curves were used for the assessment of PSE incidence and mortality. Possible predictors of PSE and mortality were selected from between-group analysis and tested in multivariable regressions. Results: Our study enrolled a total of 424 patients diagnosed with acute stroke. Among them, 97 cases (23%) experienced early post-stroke seizures, and 28 patients (6.6%) developed PSE. The cumulative risks of developing PSE were found to be 15.4% after hemorrhagic stroke and 8.7% after ischemic stroke. In multivariable fine and gray regression with competitive risk of death, significant predictors for developing PSE in the ischemic cohort were watershed infarction (HR 6.01, 95% CI 2.29-15.77, p < 0.001) and low Barthel index at discharge (HR 0.98, CI 0.96-0.99, p = 0.04). Furthermore, patients who eventually developed PSE showed slower recovery and presented a worse neurologic status at the time of discharge. The in-hospital dynamics of the National Institutes of Health Stroke Scale (NIHSS) were significantly worse in the PSE group compared to the non-PSE group (p = 0.01). Discussion: A higher proportion of cases experienced early seizures compared to what has been commonly reported in similar studies. Watershed stroke and low Barthel index at discharge were both identified as independent risk factors of PSE in ischemic strokes, which sheds light on the underlying mechanisms that may predispose individuals to post-stroke epilepsy after experiencing an ischemic stroke.
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BACKGROUND: To compare the measurement error of Cirrus HD-OCT and Heidelberg Retina Tomograph 3 (HRT3) in patients with early glaucomatous visual field defect. METHODS: Thirty-nine consecutive patients (39 eyes) with early glaucomatous visual field defect were included. One eye of a patient was examined with Cirrus HD-OCT and HRT3 in one session. Each instrument was used by two operators, each taking two measurements in turn. We performed measurements of average retinal nerve fiber layer (RNFL) thickness and RNFL thickness in four quadrants with Cirrus HD-OCT and 13 stereometric parameters of the optic nerve head and RNFL with HRT3. RESULTS: Cirrus HD-OCT parameters performed much better than HRT3 stereometric parameters. Mean (for both operators) intraoperator within-subject coefficient of variation of the best Cirrus HD-OCT parameter (average RNFL thickness) was 2.6-2.7 times lower than the best HRT3 parameters [mean cup depth and rim area (P < 0.001)]. Mean intraoperator variability of RNFL thickness in quadrants (except nasal quadrant) was also significantly lower with OCT than with HRT. The interoperator within-subject coefficients of variation for both average RNFL thickness and RNFL thickness in all quadrants were significantly lower than the interoperator variability of best HRT3 parameter [mean cup depth (P < 0.001)]. The within-subject coefficient of variation of the average/mean RNFL thickness assessed by both instruments was 5.4-7.3 times lower for Cirrus HD-OCT. Among HRT3 parameters, mean cup depth, rim area and linear cup/disk ratio were the least variable, while cup volume, cup area and cup/disc area ratio were the most variable parameters. CONCLUSIONS: Cirrus HD-OCT provides excellent intrasession intra- and interoperator repeatability of the RNFL measurements, especially of the average RNFL thickness in primary open-angle glaucoma (POAG) patients and POAG suspects with early glaucomatous visual field defect. The measurement error (expressed as within-subject coefficient of variation) of RNFL measurements by Cirrus HD-OCT is much lower than the error of HRT3 measurements of stereometric parameters of the optic nerve head and RNFL.
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Glaucoma de Ángulo Abierto/diagnóstico , Fibras Nerviosas/patología , Disco Óptico/patología , Células Ganglionares de la Retina/patología , Trastornos de la Visión/diagnóstico , Campos Visuales , Adulto , Anciano , Femenino , Humanos , Presión Intraocular/fisiología , Rayos Láser , Masculino , Persona de Mediana Edad , Hipertensión Ocular/diagnóstico , Oftalmoscopía , Reproducibilidad de los Resultados , Tomografía de Coherencia Óptica , Tonometría Ocular , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND: Many studies indicate a significant role of GDNF in the pathogenesis of the mood disorders, including bipolar disorder (BD) and major depressive disorder (MDD). Potentially, neurotrophic factors in lacrimal fluid (LF) could become biomarkers of various specific disorders. The aim of this study was to assess GDNF levels in LF and blood serum (BS) of patients with a current depressive episode (cDE). METHODS: We studied the glial cell line-derived neurotrophic factor (GDNF) concentration in the LF and BS of 39 healthy controls and 137 patients with a current depressive episode (cDE) (both subgroups members were 20-49 years): BD - 46 patients, MDD - 91 patients. RESULTS: GDNF concentration in BS of women with MDD was significantly lower than in men. In BD patients, univariate linear regression analysis revealed significant correlations between GDNF concentration in the LF and the use of anxiolytics or antidepressants. These correlations were confirmed by the multivariate linear regression analysis. A significant correlation between GDNF concentrations in the LF and BS was found in controls. LIMITATIONS: The unequal proportion of men in the BD group did not permit adjusting GDNF concentrations for sex. The collected LF was stimulated, which could influence GDNF levels. It should also be noted that the patients included in the study were not treatment- naïve. CONCLUSIONS: Our findings suggest that GDNF concentration in LF could be a biomarker of the cDE (both unipolar and bipolar), though the sensitivity of this potential biomarker may be lower in depressive patients with anxiety symptoms.
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Trastorno Depresivo Mayor , Factor Neurotrófico Derivado de la Línea Celular Glial , Adulto , Ansiolíticos , Antidepresivos , Femenino , Factor Neurotrófico Derivado de la Línea Celular Glial/análisis , Humanos , Masculino , Persona de Mediana Edad , Suero/química , Lágrimas/química , Adulto JovenRESUMEN
OBJECTIVE: To evaluate brain-derived neurotrophic factor (BDNF) level in blood serum (BS) and lacrimal fluid (LF) of people with epilepsy (PWE). METHODS: It was a case-control study of 72 consecutive patients with focal epilepsy (cases, Epilepsy group) and 60 age- and gender-matched healthy volunteers (controls). Based on comorbid depression, two subgroups of PWE were formed. BDNF level was measured by enzyme-linked immunosorbent assay (ELISA) in BS and LF. RESULTS: Compared to controls, BDNF level (pg/mL) in PWE was lower both in BS (22,520 ± 3810 vs. 26,360 ± 3090, P < 0.000) and in LF (100.8 ± 23.3 vs. 113.4 ± 19.3, P = 0.001). However, no significant correlation was found between BDNF level in BS and LF either in the Epilepsy group or in controls. No impact of comorbid depression on BDNF level was found either in BS or LF of PWE. We revealed a higher BDNF level in LF of men as compared to women in controls and a similar non-significant trend in PWE. Higher BDNF level in BS of PWE receiving valproates versus other AEDs was found, however, a relatively small number of observations and use of polytherapy in most cases should be taken into account. SIGNIFICANCE: In patients with focal epilepsy, BDNF level is decreased both in BS and LF, though with no correlation between them. No association of BDNF levels with age and epilepsy characteristics, as well as the occurrence of depression, was found. Low BDNF level in LF could be considered as a non-invasive biomarker of focal epilepsy.
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Factor Neurotrófico Derivado del Encéfalo , Epilepsias Parciales , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Suero , LágrimasRESUMEN
Purpose: The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a chorioretinopathy or familial exudative vitreoretinopathy (FEVR) ocular phenotype caused by mutations in KIF11, TUBGCP4, or TUBGCP6. Methods: Patients diagnosed with congenital microcephaly and chorioretinopathy or FEVR were included. Molecular investigations consisted of targeted genetic sequencing. Data from medical records, ophthalmologic examination and imaging, electroretinography, and visual fields were analyzed for systemic and ophthalmic features and evidence of posterior segment disease progression. Results: Twelve patients from 9 families were included and had a median of 8 years of follow-up. Nine patients had KIF11 variants, two had heterozygous TUBGCP6 variants, and one had heterozygous variants in TUBGCP4. All patients had reduced visual function and multiple individuals and families showed features of both chorioretinopathy and FEVR. Progression of posterior segment disease was highly variable, with some degree of increased atrophy of the macula or peripheral retina or increased vitreoretinal traction observed in 9 of 12 patients. Conclusions: Microcephaly due to mutations in KIF11, TUBGCP4, or TUBGCP6 can be associated with retinal disease on a spectrum from chorioretinal atrophy to FEVR-like posterior segment changes. Visually significant disease progression can occur and patients should be monitored closely by a team experienced in ophthalmic genetics.
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Vitreorretinopatías Exudativas Familiares/genética , Cinesinas/genética , Microcefalia/genética , Proteínas Asociadas a Microtúbulos/genética , Mutación , Enfermedades de la Retina/genética , Adolescente , Niño , Preescolar , Análisis Mutacional de ADN , Electrorretinografía , Vitreorretinopatías Exudativas Familiares/diagnóstico , Vitreorretinopatías Exudativas Familiares/fisiopatología , Femenino , Estudios de Seguimiento , Estudios de Asociación Genética , Humanos , Lactante , Recién Nacido , Masculino , Microcefalia/diagnóstico , Microcefalia/fisiopatología , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/fisiopatología , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/fisiopatología , Agudeza Visual/fisiología , Pruebas del Campo Visual , Campos Visuales/fisiologíaAsunto(s)
COVID-19 , Epilepsia , Adulto , Humanos , Estudios de Cohortes , Incidencia , Moscú , Epilepsia/epidemiología , Epilepsia/terapiaRESUMEN
PURPOSE: To study brain-derived neurotrophic factor (BDNF) content in aqueous humor (AH), lacrimal fluid (LF), and blood serum (BS) in patients with age-related cataract and primary open-angle glaucoma (POAG). METHODS: BDNF was studied in 57 patients with age-related cataract, 55 patients with POAG combined with cataract, and 29 healthy controls (one eye in each person). AH was sampled during cataract surgery. RESULTS: The levels of BDNF in LF and BS did not differ in cataract patients and controls. The concentration of BDNF (pg/mL) in patients with POAG and cataract was lower than in cataract patients in AH (35.2 ± 14.2 vs. 54.6 ± 29.6, P < 0.001), LF (78.0 ± 25.1 vs. 116.2 ± 43.1, P < 0.001), and BS (19230 ± 5960 vs. 22440 ± 7580, P < 0.02), while the AH/LF ratio was similar (0.46 ± 0.18 vs. 0.48 ± 0.19). The AH level of BDNF declined in early POAG and relatively increased in the next stages of the disease, inversely correlating with visual field index (Pearson's correlation coefficient r = -0.404, P = 0.002) and average retinal nerve fiber layer thickness (r = -0.322, P = 0.018). BDNF contents in LF and BS were also the lowest in early POAG. BDNF in AH strongly correlated with its content in LF (r = 0.66, P < 0.000). A formula was suggested to calculate the AH concentration of BDNF basing on its content in LF. CONCLUSIONS: BDNF contents are decreased in AH, LF, and BS of patients with POAG demonstrating a significant decrease in the early POAG and relative increase in the next stages of the disease. A strong correlation exists between BDNF contents in AH and LF.