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Worldwide, the number of elderly individuals receiving chronic hemodialysis is rising. The aim of our study was to evaluate several clinical and analytical biomarkers in chronically dialyzed patients and analyze how they change with age. A cross-sectional study was performed by evaluating 289 end-stage renal disease patients undergoing dialysis. We evaluated the hemogram, adipokines, the lipid profile, and several markers related to inflammation, endothelial function/fibrinolysis, nutrition, iron metabolism, and cardiac and renal fibrosis. Clinical data and dialysis efficacy parameters were obtained from all patients. The relationships between studied biomarkers and age were assessed by a statistical comparison between younger (adults with age < 65 years) and older (age ≥ 65 years) patients and by performing regression analysis. Participants presented a mean age of 68.7 years (±13.6), with 66.8% (n = 193) being classified as older. Compared to younger patients, older patients presented the following: (a) significantly lower values of diastolic blood pressure (DBP) and ultrafiltration volume; (b) lower levels of phosphorus, uric acid, creatinine, and albumin; and (c) higher circulating concentrations of tissue-type plasminogen activator (tPA), D-dimer, interleukin-6, leptin, N-terminal pro B-type natriuretic peptide, and tissue inhibitor of metalloproteinase-1. In the multiple linear regression analysis, DBP values, tPA, phosphorus, and D-dimer levels were independently associated with the age of patients (standardized betas: -0.407, 0.272, -0.230, and 0.197, respectively; p < 0.001 for all), demonstrating relevant changes in biomarkers with increasing age at cardiovascular and nutritional levels. These findings seem to result from crosstalk mechanisms between aging and chronic kidney disease.
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Fallo Renal Crónico , Inhibidor Tisular de Metaloproteinasa-1 , Adulto , Humanos , Anciano , Estudios Transversales , Diálisis Renal , Fallo Renal Crónico/complicaciones , Biomarcadores , FósforoRESUMEN
BACKGROUND: Pediatric uveitis poses challenges in diagnosis and treatment due to asymptomatic or oligosymptomatic presentations and high rates of intraocular complications. OBJECTIVES: This study aimed to characterize clinical manifestations and treatment approaches of pediatric uveitis patients in a northern Portuguese tertiary hospital. METHODOLOGY: A retrospective study was conducted involving forty-one patients diagnosed with uveitis between 2006 and 2021. All individuals identified by the Opthalmology department were referred to Pediatric Rheumatology outpatient clinic. Demographic, clinical, treatment, and intraocular complications data were collected. RESULTS: Of the patients, 78% had anterior uveitis, 17% had panuveitis, and 5% had intermediate uveitis. Uveitis associated with juvenile idiopathic arthritis was the most common cause (43.9%), predominantly in the oligoarticular, anti-nuclear antibody-positive subgroup. Complications were identified in 80.5% of the patients. Uveitis associated with JIA was diagnosed earlier (5,0 years (3,0-10,5) vs. 9,0 years (5,5-14,0), p=0,036), more frequently in asymptomatic patients (71% vs. 23%, p=0,010), had a more insidious installation (71% vs. 17%, p=0,004), and required more TNF inhibitor treatment (70% vs. 39%, p=0,027). CONCLUSION: The high rates of intraocular complications and systemic pathology association highlight the need for a combined approach of ophthalmology and pediatric rheumatology in the diagnosis and treatment of pediatric uveitis.
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INTRODUCTION: Accommodative esotropia (AET) is characterized by an esodeviation of the eyes due to uncorrected hyperopia, deficient fusional divergence, or high accommodative convergence. Decreasing hyperopia would reduce accommodative convergence and strabismus. We sought to review the existing evidence regarding the outcomes of refractive surgery in patients with AET. METHODS: A four-database search (Pubmed, ISI Web of Science, Cochrane, and Scopus) was performed from inception to March 2021 using the following MeSH terms: ("Refractive Surgical Procedures" OR "Keratomileusis, Laser In Situ" OR "Photorefractive Keratectomy" OR "Lens Implantation, Intraocular") AND ("Esotropia" OR "Accommodative Esotropia" OR "Refractive Esotropia" OR "Accommodative Strabismus"). No meta-analysis was performed due to studies' heterogeneity. RESULTS: Twenty-eight studies including 22 case series enrolling 378 patients and 6 case reports enrolling 8 patients were selected among 185 original abstracts. In the case series, a total of 378 patients (726 eyes) were recruited with an age range of 8-52 years. All studies reported mean follow-up periods of at least 12 months. Photorefractive keratectomy was performed in 7 studies, laser-assisted in situ keratomileusis in 9 studies, laser-assisted sub-epithelial keratectomy was reported in 1 study, and 3 studies implanted intraocular lenses, including iris-fixated and collamer. Considering the adult patients with a preoperative corrected esodeviation ≤10 prism diopters (PD) (n = 129), all but 5 (3.9%) presented orthophoria or ≤10PD after refractive surgery. All children but 4 (4.5%) ended up with an esodeviation ≤10PD after surgery with those exceptions being in the range of 11-15PD. Six case reports were included in this review, comprising a total of 8 patients (16 eyes) with an age range of 7-34 years and a follow-up range of 4-48 months. Six case reports were included in this review, comprising a total of 8 patients (16 eyes) with an age range of 7-34 years and a follow-up range of 4-48 months. CONCLUSION: Evidence produced so far points out that refractive surgery may be an alternative for spectacle correction for adults with AET ≤10PD. There is not enough evidence to recommend its use for patients under 18 years of age. The safety and predictability of these procedures for this purpose remains unclear as the selection criteria used for these patients are much different than the usual indications and there are no studies with long-term follow-up.
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Esotropía , Hiperopía , Queratomileusis por Láser In Situ , Estrabismo , Adolescente , Adulto , Niño , Preescolar , Humanos , Lactante , Persona de Mediana Edad , Adulto Joven , Esotropía/cirugía , Queratomileusis por Láser In Situ/métodos , Refracción Ocular , Estrabismo/cirugía , Agudeza VisualRESUMEN
INTRODUCTION: Caring for a patient with end-stage renal disease undergoing in-centre haemodialysis can be a stressful experience, likely to involve significant burden. Within the context of the new coronavirus pandemic, these patients are highly vulnerable to infection by COVID-19, which might increase the care demands and burden of family caregivers. AIM: This study aimed to explore the subjective experiences of family caregivers of non-COVID-19 patients with end-stage renal disease undergoing in-centre haemodialysis during the COVID-19 lockdown. STUDY DESIGN: A qualitative study was performed with a purposive sample. METHODS: Semi-structured telephone interviews were conducted with 19 family caregivers (50.7 ± 14 years old) of patients undergoing in-centre haemodialysis in April 2020. FINDINGS: Four major themes were identified: (1) emotional distress; (2) changes in caregiving responsibilities; (3) educational and supportive needs; and (4) coping strategies to deal with the outbreak and with the lockdown. DISCUSSION: The findings suggest that family caregivers of patients undergoing in-centre haemodialysis have to manage several additional care responsibilities due to COVID-19 lockdown. The dialysis team should consider the development of educational and supportive interventions to meet family caregivers' needs, mitigate emotional distress, fears and concerns, and prevent caregiver burden during the COVID-19 pandemic.
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COVID-19 , Fallo Renal Crónico , Adulto , Cuidadores , Control de Enfermedades Transmisibles , Familia , Humanos , Fallo Renal Crónico/terapia , Persona de Mediana Edad , Pandemias , Atención al Paciente , Investigación Cualitativa , SARS-CoV-2RESUMEN
For individuals with end-stage renal disease (ESRD), the novel coronavirus can present several additional challenges in disease self-management. This study aimed to explore the impacts of the COVID-19 pandemic in non-COVID-19 patients with ESRD undergoing in-center hemodialysis (HD). A mixed-methods study was conducted with a purposive sample recruited from one dialysis unit in Portugal. Quantitative data were collected retrospectively from patients' medical records from February 2020 (T1-before the outbreak) and from April 2020 (T2-during lockdown). Semi-structured interviews were conducted with 20 patients (66.9 ± 11.9 years old) undergoing HD for an average of 46.1 months (±39.5) in April 2020. Overall results suggested that dialysis adequacy and serum albumin levels decreased significantly at T2, while phosphorus levels increased. The findings from thematic analysis suggested several psychosocial negative impacts and impacts on disease and treatment-related health behaviors (eg, difficulties managing dietary restrictions during the lockdown and diminished physical activity), which can partially explain these quantitative results. However, some patients were also able to find positive impacts in this experience and problem-focused and emotional strategies were identified to cope with the demands of COVID-19. Several recommendations have been made to mitigate patients' emotional, relational, and educational unmet needs during the current pandemic and in the event of new outbreaks.
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COVID-19/epidemiología , Fallo Renal Crónico/terapia , Diálisis Renal/psicología , Adaptación Psicológica , Anciano , Femenino , Humanos , Entrevistas como Asunto , Masculino , Pandemias , Portugal/epidemiología , Estudios Retrospectivos , SARS-CoV-2RESUMEN
PURPOSE: To compare the retinal vasculature characteristics between eyes of patients with and without phacomatosis. METHODS: Case-control observational study with retinal vasculature evaluation by optical coherence tomography and optical coherence tomography angiography of the macula and disk. RESULTS: The study included 80 eyes. Neurofibromatosis Type 1 patients presented with a higher central macular thickness (P = 0.007), a lower optical disk nervous fiber layer (P = 0.006), a lower perimeter, area, and circularity of the foveal avascular zone (P < 0.05), a higher vascular density of macular avascular layer (AMVD) (P = 0.004), and a lower papillary vascular density of superficial capillary plexus (SPVD) (P = 0.048). Patients with tuberous sclerosis presented with an increase in central macular thickness (P = 0.024) and in vascular densities (P < 0.05) [except for macular vascular density of deep capillary plexus (PMVD), AMVD, and SPVD]. Patients with Sturge-Weber syndrome showed a decrease in optical disk nervous fiber layer (P < 0.001), subfoveal choroid thickness (P = 0.011), macular vascular density of superficial capillary plexus (SMVD) (P = 0.036), and SPVD (P < 0.001). CONCLUSION: Phacomatosis patients showed statistically significant differences of retinal vasculature characteristics, compared to eyes without pathology. Further studies are needed to determine when and if these parameters change with the course of the disease and if they can be used as biomarkers for disease severity or progression.
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Angiografía con Fluoresceína/métodos , Mácula Lútea/patología , Síndromes Neurocutáneos/diagnóstico , Vasos Retinianos/patología , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Adolescente , Adulto , Anciano , Niño , Femenino , Estudios de Seguimiento , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
Successful dialysis in end-stage renal disease (ESRD) largely depends on the patients' ability to adhere to several clinical requirements and life-style changes. Social support has been consistently linked to better health outcomes in a number of chronic diseases. The current study presents a systematic review of the literature on the relationship between social support and treatment adherence in ESRD. The search was performed on Web of Science, PsycInfo, ScienceDirect, and Scopus from January 19 to May 15, 2019. Two hundred and twenty-four records were identified. After quality assessment, 17 studies were included for qualitative synthesis. This review comprised a total of 2362 patients. Most patients were on hemodialysis (97.5%) for an average of 58.2 months. Results suggested an overall pattern of mixed findings regarding the association between social support and treatment adherence. Adherence to fluid restrictions was the type of adherence with more significant associations with social support (63%). Mixed results were found for adherence to dialysis sessions (50%) and to medication (50%). Associations between adherence to diet restrictions and social support were found in 44% of the included studies. No significant associations were found between social support and adherence to follow-up consults. All of the included studies combining several types of adherence into an overall score found significant associations with social support. Findings suggested that it might be particularly beneficial to focus future research and clinical efforts toward social support from family, significant others, and health professionals, to improve patient's with ESRD treatment adherence.
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Fallo Renal Crónico/terapia , Cooperación del Paciente/estadística & datos numéricos , Diálisis Renal/métodos , Apoyo Social , Cumplimiento y Adherencia al Tratamiento/estadística & datos numéricos , Femenino , Humanos , Fallo Renal Crónico/diagnóstico , Fallo Renal Crónico/mortalidad , Masculino , Cumplimiento de la Medicación , Pronóstico , Calidad de Vida , Diálisis Renal/mortalidad , Medición de Riesgo , Índice de Severidad de la Enfermedad , Análisis de Supervivencia , Resultado del TratamientoRESUMEN
Persistent inflammation in end-stage renal disease (ESRD) patients is known to underlie the progression of chronic kidney disease and to be associated with multiple risk factors including malnutrition, atherosclerosis, and cardiovascular disease (CVD). The acute-phase protein pentraxin 3 (PTX3) has a proven potential as a local inflammatory biomarker, but its clinical utility in ESRD remains unclear. Circulating levels of PTX3 and classical inflammatory mediators, including the clinical prototypical C-reactive protein (CRP), were assessed in 246 ESRD patients on dialysis and analysed in relation to the lipid profile, adipokine levels, and nutritional, cardiac, and renal fibrosis markers. Occurrence of deaths was recorded for the following year. Contrarily to the classical inflammatory markers, PTX3 levels were negatively correlated with nutritional markers and associated with a less atherogenic lipid profile. Levels of the cardiac and renal fibrosis markers and of the oxidized LDL/LDL-C ratio were found to be independent determinants of PTX3 concentration. When comparing inflammatory mediators, the increase in the PTX3 levels was the only predictor of all-cause mortality in dialysis patients in a survival model adjusted to all markers under study, other than the inflammatory ones, besides common confounding factors in dialysis. Data support the clinical applicability of PTX3 as a broader inflammatory biomarker than the classical ones, presenting a close association with inflammation, malnutrition, CVD, and renal fibrosis and a great potential to predict all-cause mortality in dialysis patients. The pleiotropic character of PTX3 may be of clinical relevance, and it could be targeted to ameliorate the high morbidity and mortality associated with ESRD.
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Biomarcadores/metabolismo , Proteína C-Reactiva/metabolismo , Fallo Renal Crónico/metabolismo , Fallo Renal Crónico/mortalidad , Componente Amiloide P Sérico/metabolismo , Anciano , Anciano de 80 o más Años , Enfermedades Cardiovasculares/complicaciones , Enfermedades Cardiovasculares/mortalidad , Estudios de Casos y Controles , Progresión de la Enfermedad , Femenino , Humanos , Inflamación , Fallo Renal Crónico/complicaciones , Masculino , Persona de Mediana Edad , Portugal , Diálisis Renal , Factores de RiesgoRESUMEN
Background: Soluble transferrin receptor (sTfR) is a biomarker of erythropoiesis, which is often impaired in dialysis patients. The aim of our study was to evaluate sTfR levels in chronically dialyzed patients and assess potential determinants of its levels. Methods: We performed a cross-sectional study by evaluating 246 end-stage renal disease patients undergoing dialysis and 32 healthy controls. Circulating levels of interleukin (IL)-6, C-reactive protein (CRP), tumor necrosis factor (TNF)-α, hepcidin, sTfR, growth differentiation factor 15 (GDF15), and traditional iron metabolism markers were measured, as well as hemogram parameters. Clinical data was obtained from all patients. Results: Compared to controls, patients presented similar values of sTfR, reticulocytes and reticulocyte production index (RPI), and significantly higher levels of IL-6, CRP, ferritin, hepcidin, TNF-α, and GDF15. Iron, transferrin, hemoglobin levels, erythrocyte count, mean cell hemoglobin (MCH), and mean cell hemoglobin concentration (MCHC) values were significantly lower in dialysis group. Within patients, sTfR values were higher in diabetic patients and were positively and significantly correlated with reticulocytes and erythrocytes, RPI, and therapeutic doses of erythropoiesis stimulating agents (ESA) and intravenous iron; and inversely and significantly correlated with circulating iron, ferritin, transferrin saturation, hepcidin, MCH, and MCHC. In multiple linear regression analysis, ESA dose, RPI, serum iron, diabetes, and hepcidin levels were independently associated with sTfR levels in dialysis patients and, thus, with erythropoiesis. Conclusion: Our data suggest that, besides RPI and ESA dose, diabetes and hepcidin are closely related to erythropoiesis in dialysis patients. The influence of diabetes on sTfR levels deserves further investigation.
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Anemia Ferropénica/sangre , Diabetes Mellitus/epidemiología , Hepcidinas/sangre , Fallo Renal Crónico/sangre , Receptores de Transferrina/sangre , Diálisis Renal , Anciano , Anemia Ferropénica/terapia , Biomarcadores/sangre , Estudios de Casos y Controles , Estudios Transversales , Eritropoyesis/fisiología , Eritropoyetina/uso terapéutico , Femenino , Hematínicos/administración & dosificación , Humanos , Hierro/sangre , Fallo Renal Crónico/terapia , Masculino , Persona de Mediana Edad , Transferrina/análisisRESUMEN
The aim of this work was to evaluate the predictors of mortality in a group of end-stage kidney disease (ESRD) patients under dialysis, by performing a three-year follow-up study. From the 236 patients included in this study, 54 patients died during the three-year follow-up period. Our data showed that the risk of death was higher in patients presenting lower levels of mean cell hemoglobin concentration, transferrin, and albumin. Our study showed that poor nutritional status and an inflammatory-induced iron depleted erythropoiesis are important factors for mortality in these patients.
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Fallo Renal Crónico/mortalidad , Anciano , Biomarcadores/sangre , Femenino , Estudios de Seguimiento , Hemodiafiltración , Hemoglobinas/metabolismo , Humanos , Incidencia , Fallo Renal Crónico/sangre , Fallo Renal Crónico/terapia , Masculino , Persona de Mediana Edad , Análisis Multivariante , Análisis de Regresión , Factores de Riesgo , Albúmina Sérica/metabolismo , Transferrina/metabolismoRESUMEN
Non-adherence to medical plans is recognized as an important problem in dialysis patients, since it has been associated with increased morbidity and mortality, resulting in disproportionately high costs of care. The success of renal replacement therapy depends on the adherence of patients to the different aspects of the therapeutic strategy, which includes a complex drug regimen involving a wide variety of drugs and doses, several prescribed dialysis sessions with different durations, dietetic recommendations and restriction of fluid intake. In this work, we aimed to translate and validate a previously described self-reported end-stage renal disease questionnaire (ESRD-AQ) to the Portuguese language (PESRD-AQ). After ESRD-AQ translation, a validation was performed by experts and by using a cohort of 185 Portuguese dialysis patients. PESRD-AQ reliability analysis showed strong test-retest stability across all items, with an intra-class correlation of 0.931. The average of the item-level content validity index by experts for the 46 items was 0.98, ranging from 0.94 to 1. Moreover, we found that PESRD-AQ scores indicative of non-adherence were associated with alterations in some biological and biochemical markers of non-adherence, including interdialytic weight gain. In conclusion, our results showed that PESRD-AQ, which presented an acceptable reliability and validity, is a valid tool to be used for adherence evaluation by Portuguese-speaking dialysis patients.
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Fallo Renal Crónico/terapia , Cooperación del Paciente , Diálisis Renal , Encuestas y Cuestionarios/normas , Traducción , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Lenguaje , Masculino , Persona de Mediana Edad , Portugal , Reproducibilidad de los ResultadosRESUMEN
PURPOSE: Patients' perception of health-related quality of life (HRQOL) is a consistent and powerful predictor of the outcome of end-stage renal disease (ESRD) patients under dialysis. This study aims to identify factors that could affect the HRQOL of ESRD patients under online hemodiafiltration (OL-HDF). METHODS: We evaluated 322 ESRD patients under OL-HDF (59.63% males; 64.9 ± 14.3 years old) from five dialysis units in the north of Portugal. Socio-demographic data, comorbidities, hematological data, iron status, dialysis adequacy, nutritional and inflammatory markers were collected from patients records. Patient's reported HRQOL score was assessed by using the Kidney Disease Quality of Life-Short Form (KDQOL-SF). RESULTS: ESRD patients showed a mean (± SD) of 53.17% (± 15.31%) in SF-36 total score, 50.17% (± 9.51%) in the SF-36 mental component summary (MCS) and 49.75% (± 9.44%) in the SF-36 physical component summary (PCS). Red cell distribution width (RDW), feminine gender and diabetes were found as significant predictors of SF-36 total score of HRQOL, which accounts for 12% of the total explained variance. Patient satisfaction, RDW, body mass index and gender were identified as predictors for the PCS, which accounts for 22% of total explained variance. Furthermore, patient satisfaction and dry weight were found as predictors for MCS. These predictors accounted for 28% of the total explained variance. CONCLUSIONS: Our results showed that the coexistence of diabetes, gender and erythropoietic disturbances are predictors of HRQOL in patients under OL-HDF and suggest that more attention should be given to woman patients, to the improvement of anemia and to diabetic patients, who are more prone to perceive a worst HRQOL.
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Estado de Salud , Hemodiafiltración , Fallo Renal Crónico/psicología , Fallo Renal Crónico/terapia , Satisfacción del Paciente , Calidad de Vida/psicología , Adulto , Anciano , Índice de Masa Corporal , Comorbilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Percepción , PortugalRESUMEN
Despite being one of the most pristine regions in the world, Antarctica is currently also one of the most vulnerable to climate change. Antarctic vegetation comprises mostly lichens and bryophytes, complemented in some milder regions of Maritime Antarctica by two vascular plant species. Shifts in the spatial patterns of these three main vegetation groups have already been observed in response to climate change, highlighting the urgent need for the development of comprehensive large-scale ecological models of the effects of climate change. Besides climate, Antarctic terrestrial vegetation is also strongly influenced by non-climatic microscale conditions related to abiotic and biotic factors. Nevertheless, the quantification of their importance in determining vegetation patterns remains unclear. The objective of this work was to quantify the importance of abiotic and biotic microscale conditions in determining the spatial cover patterns of the major functional types, lichens, vascular plants and bryophytes, explicitly determining the likely confinement of each functional type to the microscale conditions, i.e., their ecological niche. Microscale explained >60 % of the spatial variation of lichens and bryophytes and 30 % of vascular plants, with the niche analysis suggesting that each of the three functional types may be likely confined to specific microscale conditions in the studied gradient. Models indicate that the main microscale ecological filters are abiotic but show the potential benefits of including biotic variables and point to the need for further clarification of vegetation biotic interactions' role in these ecosystems. Altogether, these results point to the need for the inclusion of microscale drivers in ecological models to track and forecast climate change effects, as they are crucial to explain present vegetation patterns in response to climate, and for the interpretation of ecological model results under a climate change perspective.
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Briófitas , Cambio Climático , Ecosistema , Líquenes , Regiones Antárticas , Líquenes/fisiología , Plantas , Monitoreo del AmbienteRESUMEN
Purpose: To evaluate the visual impairment of patients with inherited retinal diseases (IRDs), as per the national table of disabilities (TNI). Design: Retrospective, single-center cohort study. Participants: Patients with a clinical diagnosis of IRD were recruited at a referral center in Portugal. Methods: Demographics and clinical data were collected from each individual patient file. The estimated visual disability coefficient was calculated through the evaluation of 7 graduated categories: orbital or eyelid deformities, low vision, visual field change, loss of bi-foveolar fixation, oculomotor palsy, photophobia, and chronic conjunctivitis. The TNI provides minimum and maximum disability values for numerous conditions within each category, which were summed to calculate an overall summary disability coefficient for each patient. Main Outcome Measures: Demographic/clinical and estimated minimum and maximum visual disability coefficient according to the TNI for each patient. Results: This study included 253 patients from 214 families, aged 3 to 80 years, with a mean age of 39.8 ± 20.0 years. The mean estimated minimum and maximum visual disability coefficients as per the TNI were 0.6 ± 0.4 and 0.7 ± 0.4, respectively. The low vision was the single most frequent contributor category (21.7%) present in the calculation of visual impairment. Low vision and visual field changes were the most frequent double combination (18.2%), and the addition of loss of bi-foveolar fixation was the most frequent triple combination (8.3%). Conclusions: This study found that IRD patients had a significant visual disability, with the majority having a disability coefficient ≥0.6, which would qualify them for a "multipurpose disability medical certificate." Financial Disclosures: The authors have no proprietary or commercial interest in any materials discussed in this article.
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We aimed to study the impact of polymorphisms in the genes encoding interleukin-6 (IL6) and tumor necrosis factor receptor-2 (TNFR2), reported to be mortality risk predictors, in patients with end-stage kidney disease (ESKD) undergoing dialysis. TNFRSF1B (rs3397, rs1061624, and rs1061622) and IL6 (rs1800796, rs1800797, and rs1554606) polymorphisms were studied in patients with ESKD and controls; the genotype and allele frequencies and the associations with inflammatory and erythropoiesis markers were determined; deaths were recorded throughout the following two years. The genotype and allele frequencies for the TNFRSF1B rs3397 polymorphism were different in these patients compared to those in the controls and the global and European populations, and patients with the C allele were less common. Patients with the CC genotype for TNFRSF1B rs3397 presented higher hemoglobin and erythrocyte counts and lower TNF-α levels, suggesting a more favorable inflammatory response that seems to be associated with erythropoiesis improvement. Patients with the GG genotype for TNFRSF1B rs1061622 showed lower serum ferritin levels. None of the TNFRSF1B (rs3397, rs1061624, and rs1061622) or IL6 (rs1800796, rs1800797, and rs1554606) polymorphisms had a significant impact on the all-cause mortality rate of Portuguese patients with ESKD.
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Ceguera/congénito , Epilepsia Refractaria/etiología , Enfermedades Genéticas Ligadas al Cromosoma X/complicaciones , Enfermedades del Sistema Nervioso/complicaciones , Degeneración Retiniana/complicaciones , Espasmos Infantiles/complicaciones , Adolescente , Ceguera/complicaciones , Ceguera/diagnóstico , Ceguera/fisiopatología , Ceguera/terapia , Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/fisiopatología , Epilepsia Refractaria/terapia , Proteínas del Ojo/genética , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/fisiopatología , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Humanos , Masculino , Proteínas del Tejido Nervioso/genética , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/fisiopatología , Enfermedades del Sistema Nervioso/terapia , Degeneración Retiniana/diagnóstico , Degeneración Retiniana/fisiopatología , Degeneración Retiniana/terapia , Eliminación de Secuencia , Hermanos , Espasmos Infantiles/diagnóstico , Espasmos Infantiles/fisiopatología , Espasmos Infantiles/terapiaRESUMEN
The aim of this work was to contribute to a better understanding of the relationship between resistance to recombinant human erythropoietin (rhEPO) therapy and body mass index (BMI) in hemodialysis (HD) patients. We evaluated 191 HD patients and 25 healthy individuals. Complete blood count, reticulocyte count, and circulating levels of ferritin, transferrin, iron, soluble transferrin receptor (sTfR), transferrin saturation, hepcidin, C-reactive protein (CRP), interleukin 6 (IL-6), albumin, and adiponectin were measured in all patients and controls. Non-responder patients (n = 16), as compared with responder patients (n = 175), showed statistically significant lower BMI values, an enhanced inflammatory and higher adiponectin levels, associated with disturbances in iron metabolism. Analyzing the results according to BMI, we found that underweight patients required higher rhEPO doses than normal, overweight, and obese patients, and a higher percentage of non-responders patients were found within the underweight group of HD patients. Moreover, underweight patients presented lower levels of transferrin and higher levels of adiponectin compared to overweight and obese patients, and lower levels of iron compared with normal weight patients. Multiple regression analysis identified the sTfR, hemoglobin, BMI, and albumin as independent variables associated with rhEPO doses. In conclusion, our work showed that HD patients resistant to rhEPO therapy present a functional iron deficiency and a higher degree of inflammation, despite their lower BMI values and higher levels of adiponectin. Actually, BMI is poorly related with markers of systemic inflammation, such as IL-6 and CRP, while adiponectin works a fairly good indirect marker of adiposity within HD patients.
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Anemia/prevención & control , Índice de Masa Corporal , Resistencia a Medicamentos , Eritropoyetina/uso terapéutico , Fallo Renal Crónico/complicaciones , Anciano , Anciano de 80 o más Años , Anemia/etiología , Estudios de Casos y Controles , Femenino , Humanos , Hierro/metabolismo , Masculino , Persona de Mediana Edad , Proteínas Recombinantes/uso terapéutico , Diálisis RenalRESUMEN
A 17-year-old male was taken to the emergency department for decreased left visual acuity and floaters beginning that same day. There was a history of exposure to pulmonary tuberculosis five years before (mother as index case) followed by a four-month period of isoniazid prophylaxis. The ophthalmic examination showed posterior and intermediate uveitis in the left eye. Laboratory tests were normal; IgG for herpes simplex 1 was positive and both the varicella-zoster virus and remaining serologic tests were negative. Chest radiography was normal. Two weeks later, an epiretinal membrane with risk of tractional retinal detachment was observed. The Mantoux tuberculin skin test showed an induration of 15 mm and the IGRA test was positive. Sputum and vitreous humor samples were collected. Quadruple therapy and prednisolone were started. Ten days later, a posterior vitreous detachment with underlying vitreous hematoma was observed. Posterior vitrectomy and peripheral endolaser were performed without complications. One month later, the microbiological results became available, with the identification of Mycobacterium tuberculosis. Corticosteroids were weaned progressively. Antituberculous drugs were maintained for six months. The patient made a full recovery.
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Oftalmopatías , Mycobacterium tuberculosis , Tuberculosis Ocular , Masculino , Humanos , Niño , Adolescente , Tuberculosis Ocular/diagnóstico , Tuberculosis Ocular/tratamiento farmacológico , Tuberculosis Ocular/cirugía , Cuerpo Vítreo/microbiología , Cuerpo Vítreo/cirugía , Vitrectomía , Oftalmopatías/cirugíaRESUMEN
PURPOSE: Amblyopia is a leading cause of preventable and treatable vision loss in the pediatric population. Instrument-based screening of amblyopia-risk factors is being widely adopted but the audit of its results is still lacking. We sought to review the existing evidence regarding the outcomes of photoscreening applied to children under the age of three years. METHODS: A three-database search (Pubmed, ISI Web of Science, and Scopus) was performed from inception to March 2021. A meta-analysis of proportions was conducted to summarize the referral rate, untestable rate and positive predictive value (PPV). RESULTS: Thirteen studies were selected among 705 original abstracts. The quantitative analysis included twelve studies enrolling 64,041 children. Of these, 13% (95%CI: 7-19%) were referred for further confirmation of the screening result. Astigmatism was the most common diagnosis both after screening and after ophthalmologic assessment of referred children. The pooled untestable rate and PPV were 8% (95%CI: 3-15%) and 56% (95%CI: 40-71%), respectively. CONCLUSION: There is no global consensus on the optimal age, frequency or what magnitude of refractive error must be considered an amblyopia-risk factor. Optimization of referral criteria is therefore warranted.
Asunto(s)
Ambliopía , Errores de Refracción , Selección Visual , Niño , Humanos , Preescolar , Ambliopía/diagnóstico , Ambliopía/epidemiología , Selección Visual/métodos , Errores de Refracción/diagnóstico , Trastornos de la Visión , Factores de Riesgo , Sensibilidad y Especificidad , Reproducibilidad de los ResultadosRESUMEN
PURPOSE: To analyze the outcomes of an early ophthalmological intervention in children included in the pilot project of the "Rastreio de Saúde Visual Infantil" (RSVI) visual screening program in Portugal. METHODS: This was a retrospective analysis of the medical records of all children included in the RSVI from April 1, 2016 to December 31, 2016, and who were referred to an ophthalmology appointment. Data of refractive errors, anisometropia, amblyopia, instituted treatments, and visual acuity at the end of the ophthalmological intervention were collected. RESULTS: Two hundred sixty-seven (18.2%) 2-year-old children from the Centro Hospitalar Universitário do Porto reference area had a positive screening result and were subsequently referred to an ophthalmology appointment. Glasses were prescribed to 31.1% of the patients who attended. Presumed amblyopia was diagnosed in 2.5% and occlusion was prescribed. At the end of a median follow-up of 3 years, of those who wore glasses without occlusion, 94.3% had a visual acuity of 20/25 or better in both eyes with an asymmetry of two lines or less between eyes. Of the 4 children who wore glasses with occlusion, 3 of them had a visual acuity of 20/25 or better in both eyes with an asymmetry of two lines or less between eyes. CONCLUSIONS: This study demonstrates the effectiveness of an early intervention in the prevention and treatment of amblyopia, because after a median follow-up of 3 years after treatment none of the referred children met criteria for amblyopia and 94.3% of the referred children who had an intervention had a normal visual acuity. [J Pediatr Ophthalmol Strabismus. 2023;60(3):178-183.].