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Obstructive sleep apnea (OSA) patients are at special risk of suffering atherosclerosis, leading to major cardiovascular diseases. Notably, the transforming growth factor (TGF-ß) plays a crucial role in the development and progression of atherosclerosis. In this context, the central regulator of TGF-ß pathway, SMAD4 (small mother against decapentaplegic homolog 4), has been previously reported to be augmented in OSA patients, which levels were even higher in patients with concomitant cardiometabolic diseases. Here, we analyzed soluble and intracellular SMAD4 levels in plasma and monocytes from OSA patients and non-apneic subjects, with or without early subclinical atherosclerosis (eSA). In addition, we used in vitro and ex vivo models to explore the mechanisms underlying SMAD4 upregulation and release. Our study confirmed elevated sSMAD4 levels in OSA patients and identified that its levels were even higher in those OSA patients with eSA. Moreover, we demonstrated that SMAD4 is overexpressed in OSA monocytes and that intermittent hypoxia contributes to SMAD4 upregulation and release in a process mediated by NLRP3. In conclusion, this study highlights the potential role of sSMAD4 as a biomarker for atherosclerosis risk in OSA patients and provides new insights into the mechanisms underlying its upregulation and release to the extracellular space.
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Aterosclerosis , Apnea Obstructiva del Sueño , Humanos , Monocitos/metabolismo , Aterosclerosis/metabolismo , Hipoxia/metabolismo , Biomarcadores/metabolismo , Proteína Smad4/genética , Proteína Smad4/metabolismoRESUMEN
BACKGROUND: Control in COPD is a dynamic concept that can reflect changes in patients' clinical status that may have prognostic implications, but there is no information about changes in control status and its long-term consequences. METHODS: We classified 798 patients with COPD from the CHAIN cohort as controlled/uncontrolled at baseline and over 5 years. We describe the changes in control status in patients over long-term follow-up and analyze the factors that were associated with longitudinal control patterns and related survival using the Cox hazard analysis. RESULTS: 134 patients (16.8%) were considered persistently controlled, 248 (31.1%) persistently uncontrolled and 416 (52.1%) changed control status during follow-up. The variables significantly associated with persistent control were not requiring triple therapy at baseline and having a better quality of life. Annual changes in outcomes (health status, psychological status, airflow limitation) did not differ in patients, regardless of clinical control status. All-cause mortality was lower in persistently controlled patients (5.5% versus 19.1%, p = 0.001). The hazard ratio for all-cause mortality was 2.274 (95% CI 1.394-3.708; p = 0.001). Regarding pharmacological treatment, triple inhaled therapy was the most common option in persistently uncontrolled patients (72.2%). Patients with persistent disease control more frequently used bronchodilators for monotherapy (53%) at recruitment, although by the end of the follow-up period, 20% had scaled up their treatment, with triple therapy being the most frequent therapeutic pattern. CONCLUSIONS: The evaluation of COPD control status provides relevant prognostic information on survival. There is important variability in clinical control status and only a small proportion of the patients had persistently good control. Changes in the treatment pattern may be relevant in the longitudinal pattern of COPD clinical control. Further studies in other populations should validate our results. TRIAL REGISTRATION: Clinical Trials.gov: identifier NCT01122758.
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Broncodilatadores/administración & dosificación , Enfermedad Pulmonar Obstructiva Crónica/tratamiento farmacológico , Enfermedad Pulmonar Obstructiva Crónica/mortalidad , Anciano , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , España/epidemiologíaRESUMEN
BACKGROUND: Plasma metabolomics profile (PMP) in COPD has been associated with clinical characteristics, but PMP's relationship to survival has not been reported. We determined PMP differences between patients with COPD who died an average of 2 years after enrollment (Non-survivors, NS) compared to those who survived (S) and also with age matched controls (C). METHODS: We studied prospectively 90 patients with severe COPD and 30 controls. NS were divided in discovery and validation cohorts (30 patients each) and the results compared to the PMP of 30 S and C. All participants completed lung function tests, dyspnea scores, quality of life, exercise capacity, BODE index, and plasma metabolomics by liquid and gas chromatography / mass spectometry (LC/MS, LC/MS2, GC/MS). Statistically, we used Random Forest Analysis (RFA) and Support Vector Machine (SVM) to determine metabolites that differentiated the 3 groups and compared the ability of metabolites vs. clinical characteristics to classify patients into survivors and non-survivors. RESULTS: There were 79 metabolites statistically different between S and NS [p < 0.05 and false discovery rate (q value) < 0.1]. RFA and SVM classification of COPD survivors and non-survivors had a predicted accuracy of 74 and 85% respectively. Elevation of tricyclic acid cycle intermediates branched amino acids depletion and increase in lactate, fructose and xylonate showed the most relevant differences between S vs. NS suggesting alteration in mitochondrial oxidative energy generation. PMP had similar predictive power for risk of death as information provided by clinical characteristics. CONCLUSIONS: A plasma metabolomic profile characterized by an oxidative energy production difference between survivors and non-survivors was observed in COPD patients 2 years before death.
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Metabolismo Energético/fisiología , Metabolómica/tendencias , Enfermedad Pulmonar Obstructiva Crónica/sangre , Enfermedad Pulmonar Obstructiva Crónica/mortalidad , Anciano , Biomarcadores/sangre , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Tasa de Supervivencia/tendenciasRESUMEN
BACKGROUND: Sleep-disordered-breathing (SDB), which is characterized by chronic intermittent hypoxia (IH) and sleep fragmentation (SF), is a prevalent condition that promotes metabolic dysfunction, particularly among patients suffering from obstructive hypoventilation syndrome (OHS). Exosomes are generated ubiquitously, are readily present in the circulation, and their cargo may exert substantial functional cellular alterations in both physiological and pathological conditions. However, the effects of plasma exosomes on adipocyte metabolism in patients with OHS or in mice subjected to IH or SF mimicking SDB are unclear. METHODS: Exosomes from fasting morning plasma samples from obese adults with polysomnographically-confirmed OSA before and after 3 months of adherent CPAP therapy were assayed. In addition, C57BL/6 mice were randomly assigned to (1) sleep control (SC), (2) sleep fragmentation (SF), and (3) intermittent hypoxia (HI) for 6 weeks, and plasma exosomes were isolated. Equivalent exosome amounts were added to differentiated adipocytes in culture, after which insulin sensitivity was assessed using 0 nM and 5 nM insulin-induced pAKT/AKT expression changes by western blotting. RESULTS: When plasma exosomes were co-cultured and internalized by human naive adipocytes, significant reductions emerged in Akt phosphorylation responses to insulin when compared to exosomes obtained after 24 months of adherent CPAP treatment (n = 24; p < 0.001), while no such changes occur in untreated patients (n = 8). In addition, OHS exosomes induced significant increases in adipocyte lipolysis that were attenuated after CPAP, but did not alter pre-adipocyte differentiation. Similarly, exosomes from SF- and IH-exposed mice induced attenuated p-AKT/total AKT responses to exogenous insulin and increased glycerol content in naive murine adipocytes, without altering pre-adipocyte differentiation. CONCLUSIONS: Using in vitro adipocyte-based functional reporter assays, alterations in plasma exosomal cargo occur in SDB, and appear to contribute to adipocyte metabolic dysfunction. Further exploration of exosomal miRNA signatures in either human subjects or animal models and their putative organ and cell targets appears warranted.
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Adipocitos/fisiología , Presión de las Vías Aéreas Positiva Contínua , Exosomas/metabolismo , Inflamación/fisiopatología , Resistencia a la Insulina/fisiología , Síndromes de la Apnea del Sueño/fisiopatología , Privación de Sueño/fisiopatología , Anciano , Animales , Índice de Masa Corporal , Células Cultivadas/metabolismo , Modelos Animales de Enfermedad , Femenino , Humanos , Inflamación/metabolismo , Masculino , Ratones , Ratones Endogámicos C57BL , Persona de Mediana Edad , Estrés Oxidativo , Polisomnografía , Síndromes de la Apnea del Sueño/metabolismo , Privación de Sueño/metabolismoRESUMEN
Chronic obstructive pulmonary disease (COPD), although frequent in older individuals, can also occur at younger age; this latter population has not been well described. We reviewed the functional progression of 1708 patients with COPD attending pulmonary clinics. Those with three or more annual spirometries were divided into those who, at enrolment, were ≤ 55 (n = 103) or ≥ 65 (n = 463) years of age (younger and older COPD, respectively). Baseline and annual changes in lung function (forced expiratory volume in 1 s (FEV1)) and BODE (body mass index, airflow obstruction, dyspnoea, exercise capacity) score were recorded and compared between both groups. Severity distribution by Global Initiative for Chronic Obstructive Lung Disease and BODE scores were similar in both groups, except for mild obstruction, which was higher in the younger group. Mean FEV1 decline was 38.8 and 40.6 mL · year(-1), while BODE scores increased 0.19 and 0.23 units per year, for younger and older COPD, respectively. Both groups had similar proportion of FEV1 rapid decliners (42% and 46%, respectively). The severity distribution and progression of disease in younger patients with COPD is similar to that of patients of older age. This observation suggests that younger individuals presenting with COPD develop the disease from an already compromised pulmonary and systemic status, complementing the model of steeper decline of lung function proposed by Fletcher and Peto.
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Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , Enfermedad Pulmonar Obstructiva Crónica/terapia , Anciano , Antropometría , Índice de Masa Corporal , Estudios de Cohortes , Progresión de la Enfermedad , Tolerancia al Ejercicio , Femenino , Volumen Espiratorio Forzado , Humanos , Pulmón/fisiopatología , Masculino , Persona de Mediana Edad , Modelos Estadísticos , Estudios Prospectivos , Neumología/normas , Pruebas de Función Respiratoria , Índice de Severidad de la Enfermedad , EspirometríaRESUMEN
INTRODUCTION: Treatment with LABA/LAMA is recommended in GOLD B patients. We hypothesized that triple therapy (LABA/LAMA/ICS) will be superior to LABA/LAMA in achieving and maintaining clinical control (CC), a composite outcome that considers both impact and disease stability in a subgroup of GOLD B patients (here termed GOLD B+ patients) characterized by: (1) remaining symptomatic (CAT≥10) despite regular LABA/LAMA therapy; (2) having suffered one moderate exacerbation in the previous year; and (3) having blood eosinophil counts (BEC) ≥150cells/µL. METHODS: The ANTES B+ study is a prospective, multicenter, open label, randomized, pragmatic, controlled trial designed to test this hypothesis. It will randomize 1028 B+ patients to continue with their usual LABA/LAMA combination prescribed by their attending physician or to begin fluticasone furoate (FF) 92µg/umeclidinium (UMEC) 55µg/vilanterol (VI) 22µg in a single inhaler q.d. for 12 months. The primary efficacy outcome will be the level of CC achieved. Secondary outcomes include the clinical important deterioration index (CID), annual rate of exacerbations, and FEV1. Exploratory objectives include the interaction of BEC and smoking status, all-cause mortality and proportion of patients on LABA/LAMA arm that switch therapy arms. Safety analysis include adverse events and incidence of pneumonia. RESULTS: The first patient was recruited on February 29, 2024; results are expected in the first quarter of 2026. CONCLUSIONS: The ANTES B+ study is the first to: (1) explore the efficacy and safety of triple therapy in a population of B+ COPD patients and (2) use a composite index (CC) as the primary result of a COPD trial.
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Alcoholes Bencílicos , Combinación de Medicamentos , Enfermedad Pulmonar Obstructiva Crónica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Administración por Inhalación , Corticoesteroides/uso terapéutico , Agonistas de Receptores Adrenérgicos beta 2/uso terapéutico , Agonistas de Receptores Adrenérgicos beta 2/administración & dosificación , Androstadienos/uso terapéutico , Androstadienos/administración & dosificación , Alcoholes Bencílicos/uso terapéutico , Alcoholes Bencílicos/administración & dosificación , Broncodilatadores/uso terapéutico , Broncodilatadores/administración & dosificación , Clorobencenos/uso terapéutico , Clorobencenos/administración & dosificación , Quimioterapia Combinada , Eosinófilos , Antagonistas Muscarínicos/uso terapéutico , Antagonistas Muscarínicos/administración & dosificación , Estudios Prospectivos , Enfermedad Pulmonar Obstructiva Crónica/tratamiento farmacológico , Quinuclidinas/uso terapéutico , Quinuclidinas/administración & dosificación , Resultado del TratamientoRESUMEN
BACKGROUND: Vitamin D insufficiency and high levels of parathyroid hormone (PTH) appear to be emerging risk factors for metabolic syndrome (MS), diabetes and cardiovascular disease, conditions that occur frequently in patients with obstructive sleep apnea syndrome (OSAS). OBJECTIVES: This study examined whether serum concentrations of 25-hydroxyvitamin D [25(OH)D] and PTH were associated with the presence of MS, diabetes and hypertension among an OSAS population. METHODS: A total of 826 patients (635 men and 191 women) with newly diagnosed OSAS were studied. The occurrence of the MS was analyzed according to the National Cholesterol Education Program Adult Treatment Panel III clinical criteria. Serum levels of 25(OH)D, PTH, glucose, triglycerides, cholesterol, HDL cholesterol, creatinine and uric acid were determined. RESULTS: In 55.3% of the men and in 63.2% of the women, the serum 25(OH)D level was less than 30 ng/ml (insufficient status). After adjusting for age, sex and seasonality, there was a significant trend of decreasing odds for diabetes [odds ratio (OR) 0.55, 95% confidence interval (CI) 0.33-0.94, ptrend = 0.038] and MS (OR 0.34, 95% CI 0.21-0.56, ptrend < 0.001) with increasing vitamin D levels. Higher PTH levels were associated with a higher prevalence of obesity (OR 2.05, 95% CI 1.06-3.09, ptrend < 0.001) and hypertension (OR 1.83, 95% CI 1.01-3.05, ptrend = 0.049). CONCLUSIONS: These data suggest an inverse association of 25(OH)D with diabetes and MS and a positive association of PTH with obesity and hypertension among patients with OSAS. Based on our observational study, the causative nature of the associations cannot be established. These findings require further examination in prospective studies including clinical trials.
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Hormona Paratiroidea/sangre , Apnea Obstructiva del Sueño/sangre , Vitamina D/sangre , Adulto , Anciano , Complicaciones de la Diabetes/sangre , Complicaciones de la Diabetes/epidemiología , Femenino , Humanos , Hipertensión/sangre , Hipertensión/complicaciones , Hipertensión/epidemiología , Masculino , Síndrome Metabólico/sangre , Síndrome Metabólico/complicaciones , Síndrome Metabólico/epidemiología , Persona de Mediana Edad , Prevalencia , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/epidemiología , España/epidemiologíaRESUMEN
Cataracts increase the amount of scattered light in the crystalline lens producing low-contrast retinal images and causing vision impairment. The Optical Memory Effect is a wave correlation of coherent fields, which can enable imaging through scattering media. In this work, we characterize the scattering properties of excised human crystalline lenses by measuring their optical memory effect and other objective scattering parameters, finding the relationship between them. This work has the potential to help fundus imaging techniques through cataracts as well as the non-invasive correction of vision through cataracts.
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BACKGROUND: Obstructive sleep apnea syndrome (OSAS) is a common disorder characterized by excessive daytime sleepiness and repetitive upper airway obstruction episodes during sleep. Clinically, obesity is a major risk factor for developing OSAS. However, OSAS has been associated with hormonal and metabolic alterations that could predispose patients to obesity. The aim of this study was to investigate the independent role of apneas and obesity on plasma levels of metabolic hormones (adiponectin, ghrelin, and leptin) in patients with OSAS. METHODS: We have studied patients with OSAS and controls with and without obesity. All patients were male, had an apnea-hypopnea index of 20/h or greater, and were eligible for nasal continuous positive airway pressure (nCPAP) treatment. Patients were considered obese (n = 28) when their BMI was higher than 30 kg/m(2) and non-obese (n = 21) when it was lower than 27 kg/m(2). Non-obese control subjects (n = 20) were non-snorers with a normal cardiorespiratory sleep study, while obese control subjects (n = 10) were recruited from those obese subjects who were visited in our sleep unit and for whom OSAS was excluded by full polysomnography. A single blood sample was obtained from an antecubital vein in all participants after the completion of the nocturnal sleep laboratory recording. Plasma leptin, adiponectin, and ghrelin levels were determined by radioimmunoassay. RESULTS: The adiponectin, ghrelin, and leptin plasma levels were similar in both patients and controls. There were differences in leptin and adiponectin plasma levels between the obese and non-obese in both patient and control groups. In the case of ghrelin, differences between obese and non-obese subjects were only seen in patients. There were no significant differences in hormone levels between the obese controls and obese patients or between non-obese controls and non-obese patients. After 3 months of nCPAP treatment, adiponectin levels decreased significantly both in obese and non-obese patients, and leptin levels decreased in obese patients. Finally, nCPAP did not reduce ghrelin in either obese or non-obese patients. CONCLUSIONS: The basal levels of leptin, adiponectin, and ghrelin were mostly associated with obesity. We found that sleep apnea was not a determinant factor in leptin, adiponectin, and ghrelin hormonal levels. Interestingly, nCPAP treatment diminishes leptin in obese OSA patients and adiponectin levels in obese and non-obese patients with OSAS.
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Adiponectina/sangre , Ghrelina/sangre , Leptina/sangre , Obesidad/sangre , Apnea Obstructiva del Sueño/sangre , Adulto , Glucemia/metabolismo , Índice de Masa Corporal , Colesterol/sangre , HDL-Colesterol/sangre , Presión de las Vías Aéreas Positiva Contínua , Humanos , Masculino , Persona de Mediana Edad , Polisomnografía , Estudios Prospectivos , Valores de Referencia , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/terapia , España , Estadística como Asunto , Triglicéridos/sangreRESUMEN
Although clinical practice guidelines have contributed to improving the quality of health care offered to patients with chronic obstructive pulmonary disease (COPD), the level of adherence to recommendations continues to be inadequate and variable. Standards of care in COPD are written after applying an evidence-based approach, with the aim of unifying health-care criteria, establishing levels of acceptable adherence, and providing a way to assess quality; the ultimate goal is to improve patient care. In this statement we propose a series of health-care quality criteria and related indicators that will facilitate the quantitative evaluation of adherence to recommendations. The level of adherence that should be required is stipulated. This statement is not intended to provide a detailed description of how COPD should be managed. The aim is rather to set out quality assurance criteria that will contribute to the improvement of health-care access and equity, guaranteeing application of the highest levels of scientific and technical quality possible within the constraints of available resources, with the final purpose of satisfying the patient with COPD. The quality criteria have been grouped in 3 categories: a) so-called key criteria, to which adherence is essential; b) a set of conventional quality standards; and c) health-care administrative standards. Finally, we propose a framework on which to base the eventual accreditation of health-care quality for COPD patients.
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Enfermedad Pulmonar Obstructiva Crónica/terapia , Calidad de la Atención de Salud/normas , HumanosRESUMEN
PURPOSE: To evaluate the surgically induced changes in refraction (sphere and astigmatism) and higher order aberrations by corneal incision for one year. SETTING: University Hospital "Virgen de la Arrixaca", Murcia, Spain. DESIGN: Retrospective interventional case series. METHODS: Corneal power, astigmatism and higher order aberrations (HOA) were calculated from corneal topography measured in 27 eyes prior to surgery and at 2 weeks, 1, 2, 3 and 6 months and 1 year following cataract surgery with 3.2-mm corneal incision. At every stage, optical changes were calculated as the difference between pre- and post-surgery data (in each follow-up) using the formulas of obliquely crossed cylinders for the refraction and Zernikes coefficients for HOA. RESULTS: At 2 weeks after surgery the mean corneal values of induced sphere, cylinder and the root mean square (RMS) of HOA were +0.54±0.27 D, -0.77±0.32 D and 0.15 microns respectively. These parameters decreased significantly (p-values between 0 and 0.01) at 3 months to +0.33±0.27 D sphere, -0.50±0.24 D cylinder and 0.10±0.05 microns HOA and were stable at the next follow-ups. Induced spherical equivalent was around zero at all visits. The changes in HOA were mainly due to trefoil aberration. CONCLUSIONS: Linear corneal incisions do not change the spherical power but can induce significant values of astigmatism and trefoil aberration in the cornea. However, these changes revert fully or partially to preoperative values by the third month after surgery and remain stable with time.
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Córnea/cirugía , Aberración de Frente de Onda Corneal/diagnóstico , Aberración de Frente de Onda Corneal/etiología , Refracción Ocular , Anciano , Topografía de la Córnea , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Excessive daytime sleepiness (EDS) is the major complaint in subjects with obstructive sleep apnea syndrome (OSAS). However, EDS is not universally present in all patients with OSAS. The mechanisms explaining why some patients with OSAS complain of EDS whereas others do not are unknown. OBJECTIVE: To investigate polysomnographic determinants of excessive daytime sleepiness (EDS) in a large multicenter cohort of patients with obstructive sleep apnea (OSAS). METHODS: All consecutive patients with an apnea-hypopnea index greater than 5h(-1) who were evaluated between 2003 and 2005. EDS was assessed using the Epworth Sleepiness Scale (ESS), and patients were considered to have EDS if the ESS was >10. RESULTS: A total of 1649 patients with EDS ((mean [+/-SD] Epworth 15+/-3) and 1233 without EDS (Epworth 7+/-3) were studied. Patients with EDS were slightly younger than patients without EDS (51+/-12 vs 54+/-13 years, p<0.0001), had longer total sleep time (p<0.007), shorter sleep latency (p<0001), greater sleep efficiency (p<0.0001) and less NREM sleep in stages 1 and 2 (p<0.007) than those without EDS. Furthermore, patients with EDS had slightly higher AHI (p<0.005) and arousal index (p<0.001) and lower nadir oxygen saturation (p<0.01). CONCLUSIONS: Patients with OSAS and EDS are characterized by longer sleep duration and increased slow wave sleep compared to those without EDS. Although patients with EDS showed a mild worsening of respiratory disturbance and sleep fragmentation, these results suggest that sleep apnea and sleep disruption are not the primary determinants of EDS in all of these patients.
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Trastornos de Somnolencia Excesiva/diagnóstico , Polisomnografía , Apnea Obstructiva del Sueño/diagnóstico , Adulto , Factores de Edad , Anciano , Nivel de Alerta , Ritmo Circadiano , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Oxígeno/sangre , Factores de Riesgo , Síndromes de la Apnea del Sueño/diagnóstico , Fases del SueñoRESUMEN
We demonstrate an optimized optical platform for the three-dimensional (3-D) visualization of crystalline lens opacities in vivo in the eyes of patients with different types and grades of cataracts. We developed a prototype long-depth-range swept source optical coherence tomography (SS-OCT) instrument operating at the speed of 50 kA-scans/second and at the central wavelength of 1 µm to perform high-resolution imaging of the whole anterior segment of the eye. Volumetric data sets of cataractous eyes were acquired and processed to obtain contrast-enhanced high-resolution images of lenticular structures and opacifications. The results showed lens micro- and macro-scale features related to possible cataract development such as cortical spokes, water clefts and enhanced scattering in the lens nucleus. The results demonstrate also the ability of this SS-OCT imaging to locate and characterize opacities quantitatively. The instrument might be a useful tool in the high-resolution preoperative evaluation of crystalline lens opacities in cataract patients.
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Nonsyndromic unilateral permanent canine agenesis, particularly in the lower jaw, is an infrequent clinical observation that has occasionally been reported in the scientific literature. The main aim of the present case report and study is to give insights into the clinical features and genetic information of a nonsyndromic patient affected by unilateral lower canine agenesis and her relatives. A young girl of 9-year-old with a Class II skeletal malocclusion, sella turcica bridging, and severe overjet but no other dental anomalies is described. No associations were found with other types of dental agenesis and previously described genetic variations of the CTNNB1 gene. The possibility of a novel genetic locus should be considered as a possible genetic etiology for this extremely rare condition in a nonsyndromic patient. Based on scientific literature written in English, the present clinical case is one of the first reports to describe a nonsyndromic permanent unilateral mandibular canine agenesis.
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Purpose: To image, describe, and characterize different features visible in the crystalline lens of older adults with and without cataract when imaged three-dimensionally with a swept-source optical coherence tomography (SS-OCT) system. Methods: We used a new SS-OCT laboratory prototype designed to enhance the visualization of the crystalline lens and imaged the entire anterior segment of both eyes in two groups of participants: patients scheduled to undergo cataract surgery, n = 17, age range 36 to 91 years old, and volunteers without visual complains, n = 14, age range 20 to 81 years old. Pre-cataract surgery patients were also clinically graded according to the Lens Opacification Classification System III. The three-dimensional location and shape of the visible opacities were compared with the clinical grading. Results: Hypo- and hyperreflective features were visible in the lens of all pre-cataract surgery patients and in some of the older adults in the volunteer group. When the clinical examination revealed cortical or subcapsular cataracts, hyperreflective features were visible either in the cortex parallel to the surfaces of the lens or in the posterior pole. Other type of opacities that appeared as hyporeflective localized features were identified in the cortex of the lens. The OCT signal in the nucleus of the crystalline lens correlated with the nuclear cataract clinical grade. Conclusions: A dedicated OCT is a useful tool to study in vivo the subtle opacities in the cataractous crystalline lens, revealing its position and size three-dimensionally. The use of these images allows obtaining more detailed information on the age-related changes leading to cataract.
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Catarata/diagnóstico por imagen , Imagenología Tridimensional/métodos , Cristalino/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Extracción de Catarata , Femenino , Humanos , Implantación de Lentes Intraoculares , Masculino , Persona de Mediana Edad , Agudeza Visual , Adulto JovenRESUMEN
Purpose: The human eye has typically more optical aberrations than conventional artificial optical systems. While the lower order modes (defocus and astigmatism) are well studied, our purpose is to explore the influence of genes versus the environment on the higher order aberrations of the optical components of the eye. Methods: We have performed a classical twin study in a sample from the Region of Murcia (Spain). Optical aberrations using a Hartmann-Shack sensor (AOnEye Voptica SL, Murcia, Spain) and corneal aberrations (using corneal topography data) were measured in 138 eyes corresponding to 69 twins; 36 monozygotic (MZ) and 33 dizygotic (DZ) pairs (age 55 years, SD 7 years). Intraclass correlation coefficients (ICCs) were used to estimate how strongly aberrations of twins resemble each other, and genetic models were fitted to quantify heritability in the selected phenotypes. Results: Genes had a significant influence in the variance of most of the higher order aberration terms (heritability from 40% to 70%). This genetic influence was observed similarly in both cornea and complete eye aberrations. Additionally, the compensation factor of spherical aberration in the eye (i.e., how much corneal spherical aberration was compensated by internal spherical aberration) was found under genetic influence (heritability of 68%). Conclusions: There is a significant genetic contribution to the variance of aberrations of the eye, not only at macroscopic levels, as in myopia or astigmatism, but also at microscopic levels, where a few micrometers changes in surface topography can produce a large difference in the value of the optical aberrations.
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Astigmatismo/genética , Córnea/patología , Enfermedades en Gemelos , Ambiente , Cristalino/patología , Miopía/genética , Gemelos/genética , Astigmatismo/patología , Astigmatismo/fisiopatología , Topografía de la Córnea , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Miopía/patología , Miopía/fisiopatología , Refracción Ocular/fisiologíaRESUMEN
The combination of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) is associated with substantial morbidity and mortality. We hypothesized that predictors of OSA among patients with COPD may be distinct from OSA in the general population. Therefore, we investigated associations between traditional OSA risk factors (e.g. age), and sleep questionnaires [e.g. Epworth Sleepiness Scale] in 44 patients with advanced COPD. As a second aim we proposed a pilot, simplified screening test for OSA in patients with COPD. In a prospective, observational study of patients enrolled in the UCSD Pulmonary Rehabilitation Program we collected baseline characteristics, cardiovascular events (e.g. atrial fibrillation), and sleep questionnaires [e.g. Pittsburgh Sleep Quality Index (PSQI)]. For the pilot questionnaire, a BMI ≥25 kg/m2 and the presence of cardiovascular disease were used to construct the pilot screening test. Male: 59%; OSA 66%. FEV1 (mean ± SD) = 41.0±18.2% pred., FEV1/FVC = 41.5±12.7%]. Male gender, older age, and large neck circumference were not associated with OSA. Also, Epworth Sleepiness Scale and the STOP-Bang questionnaire were not associated with OSA in univariate logistic regression. In contrast, BMI ≥25 kg/m2 (OR = 3.94, p = 0.04) and diagnosis of cardiovascular disease (OR = 5.06, p = 0.03) were significantly associated with OSA [area under curve (AUC) = 0.74]. The pilot COPD-OSA test (OR = 5.28, p = 0.05) and STOP-Bang questionnaire (OR = 5.13, p = 0.03) were both associated with OSA in Receiver Operating Characteristics (ROC) analysis. The COPD-OSA test had the best AUC (0.74), sensitivity (92%), and specificity (83%). A ten-fold cross-validation validated our results. We found that traditional OSA predictors (e.g. gender, Epworth score) did not perform well in patients with more advanced COPD. Our pilot test may be an easy to implement instrument to screen for OSA. However, a larger validation study is necessary before further clinical implementation is warranted.
Asunto(s)
Cuello/anatomía & histología , Enfermedad Pulmonar Obstructiva Crónica/complicaciones , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnóstico , Sueño , Factores de Edad , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Curva ROC , Reproducibilidad de los Resultados , Índice de Severidad de la Enfermedad , Factores SexualesRESUMEN
PURPOSE: To measure straylight in a cohort of patients with cataract using a novel optical instrument and to correlate optical straylight values with clinical grade of cataracts and psychophysical straylight values. METHODS: Measurements were performed on 53 eyes of 44 patients with cataract admitted to the ophthalmology service of the university hospital in Murcia, Spain, and 9 young volunteers with no known ophthalmic pathology. Lens opacities were classified according to the Lens Opacities Classification System Ill (LOCS III) under slit-lamp examination. Intraocular straylight was additionally assessed psychophysically using the C-Quant straylight meter (Oculus Optikgeräte GmbH, Wetzlar, Germany). RESULTS: Optical measurements of the logarithm of the straylight parameter ranged from 1.01 to 2.01 (mean: 1.43 ± 0.244) in patients with cataract and 0.80 to 1.08 (mean: 0.92 ± 0.104) in healthy young volunteers. Straylight differed by a statistically significant amount among different LOCS III groups (P < .05). Moreover, the optically measured straylight parameter was positively correlated to the psychophysically estimated value (r = 0.803, P < .05). CONCLUSIONS: A new compact optical instrument suitable for clinical measurements of straylight in the human eye has been developed. Optically measured straylight values were highly correlated to those that were obtained psychophysically. Optical measurement of straylight can be used for the objective classification of cataract opacities based on their optical impact. [J Refract Surg. 2016;32(12):846-850.].