Health-related quality of life of X-linked hypophosphatemia in Spain.

BACKGROUND: Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic delay, treatment difficulties, poor psychosocial support, and problems with social integration. Early diagnosis and optimal treatment are paramount to control the disease in patients with XLH, avoid complications, and maintain or improve their HRQoL. We, therefore, analyzed the HRQoL of pediatric and adult patients with XLH treated with conventional therapy in Spain. RESULTS: We used several versions of the EuroQol-5 dimensions (EQ-5D) instrument according to the age of patients with XLH. Then we compared the HRQoL of patients to that of the general Spanish population. Children with XLH (n = 21) had moderate problems in walking about (61.9%), washing or dressing themselves (9.52%), and performing their usual activities (33.33%). They also felt moderate pain or discomfort (61.9%) and were moderately anxious or depressed (23.81%). Adults with XLH (n = 29) had lower HRQoL, with problems in walking (93%, with 3.45% unable to walk independently), some level of pain (86%, with 3.45% experiencing extreme pain), problems with their usual activities (80%) and self-care (> 50%), and reported symptoms of anxiety and/or depression (65%). There were important differences with the general Spanish population. CONCLUSIONS: XLH impacts negatively on physical functioning and HRQoL of patients. In Spanish patients with XLH, the HRQoL was reduced despite conventional treatment, clearly indicating the need to improve the therapeutic approach to this disorder.

X-linked hypophosphatemia (XLH) is a severe inherited disease. It is caused by loss of phosphorus by kidneys. As a result, blood level of phosphorus is low, affectingX-linked hypophosphatemia (XLH) is a severe inherited disease. It is caused by loss of phosphorus by kidneys. As a result, blood level of phosphorus is low, affecting bones and muscles. Patients can have growth retardation, short stature, rickets, limb deformities, pain and other health problems despite traditional treatment. Consequently, their quality of life can be very bad. However, a recently available new treatment (burosumab) can improve this quality of life. We studied the quality of life of children and adults with XLH treated with traditional treatment in Spain. Results showed that children had moderate problems, but adults reported moderate-to-severe problems in walking and performing their usual activities and self-care. Pain and anxiety and/or depression were very frequent. There were important differences with the general Spanish population. Moreover, we also found that XLH is associated to high healthcare cost and even higher socioeconomic cost. Our results highlight the need of improving the treatment of XLH.bones and muscles. Patients can have growth retardation, short stature, rickets, limb deformities, pain and other health problems despite traditional treatment. Consequently, their quality of life can be very bad. However, a recently available new treatment (burosumab) can improve this quality of life. We studied the quality of life of children and adults with XLH treated with traditional treatment in Spain. Results showed that children had moderate problems, but adults reported moderate-to-severe problems in walking and performing their usual activities and self-care. Pain and anxiety and/or depression were very frequent. There were important differences with the general Spanish population. Moreover, we also found that XLH is associated to high healthcare cost and even higher socioeconomic cost. Our results highlight the need of improving the treatment of XLH.

Management of strabismus related to infantile glaucoma: Case series.

OBJECTIVE: To evaluate the different modalities of treatment of the strabismus related to infantile glaucoma, its complications, and results. METHODS: The clinical history of 7 patients with infantile glaucoma which required strabismus surgical treatment were analyzed. Age at onset of glaucoma, type of glaucoma, glaucoma surgeries, type of strabismus, strabismus surgical treatment and postoperative results were studied. RESULTS: Four patients required strabismus surgery, two were treated with botulinum toxin and one required both. Primary congenital glaucoma was the most common (71,42%), 14,28% had an anterior segment dysgenesis and 14,28% had secondary glaucoma. Regarding strabismus, 4 patients had exotropia and 3 had esotropia. The main difficulty involved the management of the conjunctiva and the filtering blebs. CONCLUSION: Strabismus is a frequent complication in infantile glaucoma. The management of these patients should be individualized. In our case series, treatment of strabismus improved eye alignment. Surgery should be the mainstay of treatment while preserving the conjunctiva and interfere the less with glaucoma surgeries. Botulinum toxin is a reasonable option when conservative treatment is needed.

Study of reliability and validity of VOG Perea® and GazeLab® and calculation of the variability of their measurements. / Estudio de la fiabilidad y la validez de los videooculógrafos VOG Perea® y GazeLab® y cálculo de los márgenes de variabilidad.

OBJECTIVE: To determine the reliability and validity of VOG Perea® (VP) and GazeLab® (GL), their correlation and concordance with cover test (CT), and define the margins of variability of the measurement of angle deviation in primary position. METHODS: Forty-four orthotropic patients were included. Alternating prism CT, an examination with VP, and GL were performed. Intraclass correlation coefficient (ICC) was calculated to determine the reliability, and mean comparison was used to study validity. Correlation coefficient (R) between CT and each video-oculographer was calculated. Bland-Altman diagrams were used to determine concordance. All measurements were expressed in prismatic dioptres (PD). RESULTS: The mean horizontal deviation was -0.571 PD with CT; 0.22 PD with VP and 0.4 PD with GL. ICC was 0.246 (95% CI: [-0.402]-0.595) in GL and 0.984 [95% CI: 0.970-0.992)] in VP. Mean comparison between CT and GL was -0.9286 (CI 95%: [-1.822]-[0.0355], P=.042) and -0.8423 (95% CI: [-1.7190]-0.03450, P=.0593) for CT-VP. Correlation coefficient for VP was R=0.5704 (95% CI: 0.319-0.747, P=.0001) and R=0.4539 (95% CI: 0.174-0.666, P=.0025) for GL. Margins of variability for a single horizontal measurement in primary position with VP were±5.22 PD and±2 DP for GL. CONCLUSION: Both VP and GL are reliable and valid devices. Margins of variability for a horizontal measurement are ±5.22 PD in VP and±2 PD in GL.

Multimodal imaging in optic nerve melanocytoma: Optical coherence tomography angiography and other findings.

PURPOSE: To evaluate optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging and optical coherence tomography angiography (OCTA) as diagnostic tools in optic disc melanocytoma (ODM) and study the differences in peripapillary and macular vascular density in eyes with ODM using OCTA. METHODS: Patients with ODM were enrolled in this case series. Each patient underwent evaluation of best-corrected visual acuity, slit-lamp biomicroscopy, fundus examination, fundus photography, standard visual field testing, spectral domain OCT, ultrasound B-scan examination, FAF, fluorescein angiography and OCTA. RESULTS: Eight patients (three males and five females) with ODM (9 eyes) were enrolled. The largest ODM presented a nodular appearance with a hyper-reflective tumor surface and a posterior optical shadow on OCT. FAF images showed hypoautofluorescence of the tumor with well-defined outlines. Analysis of optic nerve vascular area showed decreased values in the radial peripapillary capillary plexus (3 of 5) and the outer retinal plexus (4 of 5) in the eyes with ODM. In contrast, the ODM eyes had a higher macular vascular area in the deep capillary plexus in 4 of 6 patients. CONCLUSIONS: ODM may be associated with changes in peripapillary and macular perfusion, with an increase in peripapillary vascularization being a possible risk factor for growth. OCTA might be a helpful objective method in the analysis of changes in flow in patients with ODM.

Intraocular foreign bodies after cataract surgery. / Cuerpos extraños intraoculares tras cirugía de catarata.

Intraocular foreign bodies after cataract surgery are relatively frequent, and there are many cases published in the literature on this topic. Different kinds of foreign bodies of various materials can be found, and some of them with the ability to produce side effects. Their extraction is recommended whenever possible, always individualising each case. It also recommended to carry out preventive measures in all surgeries for their prevention. In this work a review is presented on the topic, considered important due to the possible ocular complications that can occur.

Assessment of extraocular muscle thickness and correlation study using optical coherence tomography. / Evaluación del grosor de los músculos extraoculares y estudio de correlación mediante tomografía de coherencia óptica.

OBJECTIVE: To report reference values for the horizontal rectus muscles thickness using Spectral Domain optical coherence tomography (SD-OCT), and to evaluate whether there are any correlations between the muscle thickness and gender, age, or axial length (AL). MATERIAL AND METHODS: A cross-sectional study was conducted on 131 right eyes of healthy subjects. The gender and age were recorded, and axial length was measured using an optical biometer. The medial rectus (MR) muscle thickness was measured at 7.2 and 9.2mm from the limbus, and the lateral rectus (LR) at 8.5 and 10.5mm from the limbus using OCT. A multivariate model was adjusted to determine whether gender, age, and axial length could have an impact on the muscle thickness. RESULTS: Mean age was 43.3±20.9 years (range 6-86), and 59% were women. Mean AL was 24.9±2.7mm (range: 20.4-33.8). Mean thickness was 188.5±51.2µm (range 69-342) for the LR at 8.5 and 186.5±45.9µm (range 75-269) at 10.5mm, and for the MR, 158.1±39.1µm (range 69-273) at 7.2mm and 193.7±55.9µm (range 105-386) at 9.2mm. A correlation was observed between the AL and MR thickness (R=-.255; P=.023) while no correlation was observed for the LR (P≥0.203). No correlations were found between thickness and gender or thickness and age (P≥0.125). CONCLUSIONS: The reference ranges of the horizontal rectus muscles thickness was described using SD-OCT, observing an association between the AL and the MR thickness.

Epidemia COVID-19: ¿debe el oftalmólogo estar alerta ante las paresias oculomotoras? / COVID-19 epidemic: Should ophthalmologists be aware of oculomotor paresis?

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Effects of reducing LDL and increasing HDL with gemfibrozil in experimental coronary lesion development and thrombotic risk.

The use of lipid-lowering drugs has been shown to have beneficial effects in primary and secondary prevention of cardiovascular disease. Gemfibrozil has shown beneficial effects as a lipid lowering agent; however, some proactivating effects on platelet function in vitro have been described. We have studied in a porcine model of atherosclerosis if gemfibrozil could prevent the early vascular effects of a cholesterol-rich diet without inducing platelet activation and, hence, mural thrombosis. Pigs were fed for 50 days with a diet rich in saturated fat and cholesterol (cho). The longitudinal follow-up study showed that in control animals LDL-cho increased significantly up to 181.9 +/- 34.2 mg/dl or 79% of total-cho, while HDL-cho was reduced to 19% of total-cho. Gemfibrozil, at average therapeutic plasma levels (peak levels of 28 micrograms/ml) [corrected], induced a significant reduction in the relative amount of LDL (P < 0.05) and increased HDL (P < 0.05). The increase in fibrinogen plasma levels observed in the control group due to the dietary intervention (+25%) was prevented in the treated animals (-5%). In treated animals, vascular lesions were significantly less severe, platelet deposition upon exposure of damaged vessel wall was unchanged and the fibrin layer deposited on the damaged vessel wall was significantly reduced over control animal values. This short term pharmacologic lipid lowering intervention has been able to slow down lesion development and to reduce fibrin formation onto lesioned disrupted vascular substrates without increasing platelet mural thrombosis.

Effects of statins in thrombosis and aortic lesion development in a dyslipemic rabbit model.

HMG-CoA reductase inhibitors (statins) are effective in primary and secondary prevention of coronary heart disease. The mechanism of action is mainly attributed to their plasma cholesterol lowering activity, although additional effects have been suggested. Our objective was to study whether atorvastatin and simvastatin exhibited an inhibitory effect on platelet deposition onto a triggering damaged vessel wall in addition to an antiatherosclerotic effect in the dyslipemic rabbit model. Statins were administered at identical doses of 2.5 mg/kg/day with a hyperlipidemic diet during 10 weeks. Both drugs similarly lowered total cholesterol and, moderately, triglycerides. Mural platelet deposition on damaged vessel wall placed in an ex-vivo flow perfusion system was reduced in atorvastatin treated animals (39.7+/-6.2 X 10(6) PLT/cm2) vs. controls (94.8+/-15.9 x 10(6) PLT/cm2, p <0.02). Simvastatin reduced aortic fatty streak surface coverage (31,7+/-5.3%) vs. controls (47.9+/-4.1%, p <0.005) and intimal thickening in thoracic aorta (0.15+/-0.05 intima to total area ratio in simvastatin treated animals vs. 0.36+/-0.03 in control animals, p <0.05). Atherosclerotic fatty streak coverage correlated positively with total cholesterol, tryglicerides and LDL-cholesterol levels in all groups. HMG-CoA reductase inhibitors similarly lowered plasma lipids but exhibited significantly different effects in the modulation of atherosclerotic development and platelet response at the tested dose. Therefore, the effect of statins on the progression and manifestation of cardiovascular disease might be also mediated by regulating platelet response to vessel injury.

Role of selective digestive decontamination (SDD) in the prevention of nosocomial pneumonia (NP): is gastric decontamination necessary?

In the course of a prospective selective digestive decontamination (SDD) trial to prevent nosocomial pneumonia (NP) during mechanical ventilation (MV), we carried out serial cultures of gastric aspirate to assess the importance of gastric colonization for potential respiratory pathogens and its relationship to the simultaneous gastric pH, to whether the patients were receiving Sucralfate or Ranitidine and to the nutritional biochemical parameters. If NP developed, a bronchial sample was taken by fibreoptic bronchoscopy to determine the causal organisms and its relationship to the previous gastric isolated. Results show: 1) Increase in aerobic Gram negative bacilli colonization during hospitalization. 2) Direct relationship between colonization level and gastric pH. 3) Greater pH in ranitidine vs sucralfate group. 4) Low incidence of NP (11%), the majority of these (66%) being early. 5) No bacteriological correlation between gastric colonization and aetiological agents of NP. 6) Close relationship between pharyngeal colonization and causative germs of pulmonary infection (40%).

[Reduction of coronary events: what are the possible mechanisms?]. / Reducción de los eventos coronarios: cuáles son los posibles mecanismos?

Clinical studies have shown that lipid-lowering therapy reduces the incidence of cardiovascular events. However, lesion regression is relatively minor and does not seem to reflect the clear improvement in clinical events. Normalization of the lipid profile correlates with a reduction in atheromatous plaque complications. The responsible mechanisms for such reduction are diverse and are the subject of extensive research.

Manejo del estrabismo asociado al glaucoma de la infancia: serie de casos / Management of strabismus related to infantile glaucoma: Case series

Objetivo Evaluar las diferentes estrategias de tratamiento del estrabismo, sus complicaciones y resultados quirúrgicos en pacientes con glaucoma de la infancia. Métodos Se analizaron las historias clínicas de 7 pacientes con glaucoma de la infancia que requirieron tratamiento quirúrgico de estrabismo. Se analizaron las variables edad en el momento de la cirugía de estrabismo, tipo de glaucoma, cirugías de glaucoma, tipo de estrabismo, su tratamiento y resultados posquirúrgicos. Resultados De los 7 pacientes incluidos en nuestro estudio, 4 fueron sometidos a cirugía de estrabismo, 2 recibieron tratamiento con toxina botulínica y uno requirió ambas técnicas. Un 71,42% de los pacientes tenía glaucoma congénito primario, un 14,28% una disgenesia de segmento anterior y un 14,28% glaucoma secundario. Fueron intervenidas 4 exotropías y 3 endotropías. La principal dificultad fue el manejo de la conjuntiva y las ampollas filtrantes. Conclusiones El estrabismo constituye una complicación frecuente asociada al glaucoma de la infancia. La estrategia de tratamiento del estrabismo en estos pacientes debe ser individualizada. En nuestra serie, el tratamiento del estrabismo mejoró el alineamiento ocular. La cirugía debe considerarse de elección, teniendo en cuenta la importancia de proteger la conjuntiva y no interferir en las cirugías de glaucoma. La toxina botulínica es una opción útil en niños cuando se requieren tratamientos conservadores (AU)

Objective To evaluate the different modalities of treatment of the strabismus related to infantile glaucoma, its complications, and results. Methods The clinical history of 7 patients with infantile glaucoma which required strabismus surgical treatment were analyzed. Age at onset of glaucoma, type of glaucoma, glaucoma surgeries, type of strabismus, strabismus surgical treatment and postoperative results were studied. Results Four patients required strabismus surgery, two were treated with botulinum toxin and one required both. Primary congenital glaucoma was the most common (71,42%), 14,28% had an anterior segment dysgenesis and 14,28% had secondary glaucoma. Regarding strabismus, 4 patients had exotropia and 3 had esotropia. The main difficulty involved the management of the conjunctiva and the filtering blebs. Conclusion Strabismus is a frequent complication in infantile glaucoma. The management of these patients should be individualized. In our case series, treatment of strabismus improved eye alignment. Surgery should be the mainstay of treatment while preserving the conjunctiva and interfere the less with glaucoma surgeries. Botulinum toxin is a reasonable option when conservative treatment is needed (AU)

Cuerpos extraños intraoculares tras cirugía de catarata / Intraocular foreign bodies after cataract surgery

La presencia de cuerpos extraños intraoculares tras la cirugía de catarata es relativamente frecuente y son muchos los casos publicados en la literatura sobre este tema. Nos podemos encontrar con varios tipos de cuerpos extraños, de diversos materiales y algunos de ellos con capacidad de producir graves efectos secundarios. Se recomienda su extracción cuando es posible, siempre individualizando cada caso, así como extremar las medidas preventivas en todas las cirugías. En este trabajo hacemos una revisión del tema que consideramos de importancia por las posibles complicaciones oculares que pueden generarse

Intraocular foreign bodies after cataract surgery are relatively frequent, and there are many cases published in the literature on this topic. Different kinds of foreign bodies of various materials can be found, and some of them with the ability to produce side effects. Their extraction is recommended whenever possible, always individualising each case. It also recommended to carry out preventive measures in all surgeries for their prevention. In this work a review is presented on the topic, considered important due to the possible ocular complications that can occur

Evaluación del grosor de los músculos extraoculares y estudio de correlación mediante tomografía de coherencia óptica / Assessment of extraocular muscle thickness and correlation study using optical coherence tomography

OBJETIVO: Describir los valores de normalidad del grosor de los músculos rectos horizontales mediante tomografía de coherencia óptica de dominio espectral (SD-OCT) y valorar si existe correlación entre el grosor muscular y el sexo, la edad o la longitud axial (LA). MATERIAL Y MÉTODOS: Estudio transversal de 131 ojos derechos de pacientes sin enfermedad oftalmológica. Se recogieron el sexo y la edad y se midió la LA utilizando un biómetro óptico Lenstar LS 900 (Haag-Streit AG, Koeniz, Suiza). El grosor del recto medio (RM) se midió a 7,2 y 9,2mm desde el limbo y el recto lateral (RL) a 8,5 y 10,5 mm utilizando la OCT. Se ajustó un modelo multivariable para analizar si el sexo, la edad y la LA podrían influir sobre el grosor muscular. RESULTADOS: La edad media fue 43,3 ± 20,9 años (rango 6-86), siendo 59% mujeres. La LA media fue 24,9 ± 2,7mm (rango: 20,4-33,8). El grosor medio del RL a 8,5mm fue 188,5 ± 51,2 μm (rango 69-342) y 186,5 ± 45,9 μm (rango 75 - 269) a 10,5 mm. El grosor del RM fue 158,1 ± 39,1μm (rango 69 - 273) a 7,2 mm y 193,7 ± 55,9 μm (rango 105-386) a 9,2 mm. Se observó correlación entre el grosor del RM y la LA (R = -0,255; p = 0,023), no hallándose correlación para el RL (p ≥ 0,203). Tampoco se encontró asociación entre el grosor y el sexo o la edad (p ≥ 0,125). CONCLUSIONES: La OCT permite medir el grosor de los músculos rectos horizontales, observándose una asociación entre el grosor del RM y la LA

OBJECTIVE: To report reference values for the horizontal rectus muscles thickness using Spectral Domain optical coherence tomography (SD-OCT), and to evaluate whether there are any correlations between the muscle thickness and gender, age, or axial length (AL). MATERIAL AND METHODS: A cross-sectional study was conducted on 131 right eyes of healthy subjects. The gender and age were recorded, and axial length was measured using an optical biometer. The medial rectus (MR) muscle thickness was measured at 7.2 and 9.2 mm from the limbus, and the lateral rectus (LR) at 8.5 and 10.5 mm from the limbus using OCT. A multivariate model was adjusted to determine whether gender, age, and axial length could have an impact on the muscle thickness. RESULTS: Mean age was 43.3 ± 20.9 years (range 6-86), and 59% were women. Mean AL was 24.9 ± 2.7 mm (range: 20.4 - 33.8). Mean thickness was 188.5 ± 51.2 μm (range 69-342) for the LR at 8.5 and 186.5 ± 45.9 μm (range 75-269) at 10.5 mm, and for the MR, 158.1 ± 39.1μm (range 69 - 273) at 7.2 mm and 193.7 ± 55.9μm (range 105-386) at 9.2 mm. A correlation was observed between the AL and MR thickness (R = -.255; P = .023) while no correlation was observed for the LR (P ≥ 0.203). No correlations were found between thickness and gender or thickness and age (P ≥ 0.125). CONCLUSIONS: The reference ranges of the horizontal rectus muscles thickness was described using SD-OCT, observing an association between the AL and the MR thickness

Biophysical analysis of natural variants of the multimerization region of Epstein-Barr virus lytic-switch protein BZLF1.

BZLF1 plays a key role in the induction of Epstein-Barr virus (EBV) replication. On the basis of limited sequence homology and mutagenesis experiments, BZLF1 has been described as a member of the bZip family of transcription factors, but this prospect has not been rigorously tested to date. Here, we present biophysical analysis of the multimerization domain of BZLF1, from three natural variants of EBV, and demonstrate for the first time that the region between amino acids 196 and 227 is sufficient to direct folding as a coiled-coil dimer in vitro.