High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds –6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater ...than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a polygenic inheritance of the pathology due to the cumulative effect of the alterations. Further studies are needed to validate and confirm the role of these alterations in the development of early-onset high myopia and its polygenic inheritance.
Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the ...most frequent causes of reversible blindness in childhood, the main objective of this study was to propose new responsible gene candidates that would allow a more targeted genetic approach and expand our genetic knowledge about the disease. We present a whole exome sequencing (WES) study of 20 Spanish families with non-syndromic pediatric cataracts and a previous negative result on an ophthalmology next-generation sequencing panel. After ophthalmological evaluation and collection of peripheral blood samples from these families, WES was performed. We were able to reach a genetic diagnosis in 10% of the families analyzed and found genes that could cause pediatric cataracts in 35% of the cohort. Of the variants found, 18.2% were classified as pathogenic, 9% as likely pathogenic, and 72.8% as variants of uncertain significance. However, we did not find conclusive results in 55% of the families studied, which suggests further studies are needed. The results of this WES study allow us to propose
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as potential candidates to further investigate for their role in pediatric cataracts, and
and locus 2q37 as causal genes.
Keratoconus is a corneal dystrophy that is one of the main causes of corneal transplantation and for which there is currently no effective treatment for all patients. The presentation of this disease ...in pediatric age is associated with rapid progression, a worse prognosis and, in 15–20% of cases, the need for corneal transplantation. It is a multifactorial disease with genetic variability, which makes its genetic study difficult. Discovering new therapeutic targets is necessary to improve the quality of life of patients. In this manuscript, we present the results of whole-exome sequencing (WES) of 24 pediatric families diagnosed at the University Hospital La Paz (HULP) in Madrid. The results show an oligogenic inheritance of the disease. Genes involved in the structure, function, cell adhesion, development and repair pathways of the cornea are proposed as candidate genes for the disease. Further studies are needed to confirm the involvement of the candidate genes described in this article in the development of pediatric keratoconus.
Highlights • DIABSCORE was developed and validated an risk score for screening of type 2 diabetes in a general population cohort. • DIABSCORE showed a high sensitivity to detect cases of type 2 ...diabetes and a high negative predictive value to rule out the presence of diabetes. • DIABSCORE has showed to be a valid method for opportunistic screening of type 2 diabetes in primary care that is applicable in different populations. • DIABSCORE does not require invasive methods and competes advantageously with blood glucose and HbA1c in terms of patient and professional satisfaction. • DIABSCORE is a cost-effective screening method for type 2 diabetes in primary care compared to the use of blood glucose or HbA1c.
OBJECTIVETo 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. METHODSForty-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). RESULTSThe 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. CONCLUSIONBoth 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.
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.
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).
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.
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.
Determinar la fiabilidad y la validez de los video-oculógrafos VOG Perea® (VP) y GazeLab® (GL), su correlación y concordancia con cover test (CT) y definir cuáles son los márgenes de variabilidad de las medidas de desviación ocular en posición primaria.
Se incluyeron 44 participantes ortotrópicos. A todos los pacientes se les realizó un CT alternante prismado, un examen con VP y un examen con GL. Se calculó el coeficiente de correlación intraclase (CCI) de ambos dispositivos para determinar la fiabilidad. Para establecer la validez se realizó una comparación de medias entre CT y cada dispositivo. Además, se calculó el coeficiente de correlación (R) entre cover test y cada video-oculógrafo y se determinó la concordancia mediante diagramas de Bland-Altman. Todas las medidas se realizaron en dioptrías prismáticas (DP).
La desviación media horizontal fue de −0,571 DP con CT, 0,22 DP con VP y 0,4 DP con GL. El CCI fue de 0,246 IC 95% (−0,402–0,595) en GL y de 0,984 IC 95% (0,970–0,992) en VP. La comparación de medias entre CT y GL fue de −0,9286 IC 95% (−1,822 −0,0355) (p = 0,042). En el caso de la comparación entre VP y CT la diferencia fue de −0,8423 IC 95% (−1,7190–0,03450) (p = 0,0593). En el caso de VP, el coeficiente de correlación fue R = 0,5704 IC95% (0,319–0,747)(p = 0,0001) y GL obtuvo un coeficiente de correlación R = 0,4539 IC95% (0,174–0,666) (p = 0,0025). Los márgenes de variabilidad para una medida horizontal con VP son de ±5,22 DP y en GL ± 2 DP.
VP y GL son dispositivos con una buena fiabilidad y validez. Los márgenes de variabilidad son de ±5,22 DP en VP y ±2 DP en GLpara una medida horizontal.
New developed 4 dot light test mobile application Gómez-de-Liaño, Rosario; Nieves-Moreno, Maria; Morales-Fernández, Laura
Journal of AAPOS,
August 2018, 2018-08-00, Letnik:
22, Številka:
4
Journal Article
To evaluate the effect of treatment with topical brinzolamide on visual acuity and nystagmus intensity in patients with congenital nystagmus.
A retrospective study was designed in which the clinical ...records of 14 patients with congenital nystagmus were reviewed. All patients underwent a complete ophthalmological examination and a Perea video-oculography (VOG) before, and three days after, initiation of treatment with topical brinzolamide (Azopt). Five expert researchers evaluated the intensity of nystagmus by video before and after treatment. Finally, the subjective improvement of the patients was recorded.
Statistically significant differences were found in pre- and post-treatment binocular near visual acuity. A slight increase in the frequency of nystagmus was found, which was statistically significant with the horizontal gaze to the left and with the gaze downwards (p=0.04, p=0.03, respectively). The kappa index concordance between the researchers evaluating the intensity of nystagmus was 0.014. Only two of the patients noticed improvement in visual acuity, and one patient noticed improvement in the aesthetic aspect.
In spite of an improvement in nystagmus, it was slight, not cosmetically appreciable by patients in most cases, and was not related to a significant improvement in visual acuity or in patient quality of life. Further studies are needed to evaluate the effects of topical brinzolamide, and to establish potential therapeutic indications in nystagmus.
Evaluar los efectos del tratamiento con brinzolamida tópica en la agudeza visual y en la intensidad del nistagmo en pacientes con nistagmo congénito.
Se diseñó un estudio retrospectivo en el que se revisaron las historias clínicas de 11 pacientes con nistagmo congénito. A todos los pacientes se les realizó una exploración oftalmológica completa y una videooculografía mediante VOG-Perea, antes y a los 3 días de iniciar el tratamiento con brinzolamida tópica (Azopt) cada 8horas. Cinco investigadores expertos evaluaron la intensidad del nistagmo de forma enmascarada mediante un vídeo antes y después del tratamiento. Por último, se registró la mejoría subjetiva de los pacientes.
Se encontraron diferencias estadísticamente significativas en la agudeza visual binocular de cerca previa y posterior al tratamiento. Se encontró un leve aumento de la frecuencia del nistagmo, que fue estadísticamente significativa en la mirada horizontal hacia la izquierda y con la mirada hacia abajo (p=0,04, p=0,03 significativo). El índice Kappa de concordancia entre los investigadores evaluando la intensidad del nistagmo fue de 0,014. Solo 2 de los pacientes notaron mejoría en la agudeza visual y un paciente notó mejoría en el aspecto estético.
A pesar de producirse una mejoría en el nistagmo, esta es leve, no apreciable cosméticamente por los pacientes en la mayoría de los casos, y no se relacionó con una mejoría significativa en la agudeza visual ni en la calidad de vida de los pacientes. Son necesarios nuevos estudios para evaluar los efectos de la brinzolamida tópica y establecer las posibles indicaciones terapéuticas en el nistagmo.
To evaluate the effect of treatment with topical brinzolamide on visual acuity and nystagmus intensity in patients with congenital nystagmus.
A retrospective study was designed in which the clinical ...records of 14 patients with congenital nystagmus were reviewed. All patients underwent a complete ophthalmological examination and a Perea video-oculography (VOG) before, and three days after, initiation of treatment with topical brinzolamide (Azopt). Five expert researchers evaluated the intensity of nystagmus by video before and after treatment. Finally, the subjective improvement of the patients was recorded.
Statistically significant differences were found in pre- and post-treatment binocular near visual acuity. A slight increase in the frequency of nystagmus was found, which was statistically significant with the horizontal gaze to the left and with the gaze downwards (P=.04, P=.03, respectively). The kappa index concordance between the researchers evaluating the intensity of nystagmus was 0.014. Only two of the patients noticed improvement in visual acuity, and one patient noticed improvement in the aesthetic aspect.
In spite of an improvement in nystagmus, it was slight, not cosmetically appreciable by patients in most cases, and was not related to a significant improvement in visual acuity or in patient quality of life. Further studies are needed to evaluate the effects of topical brinzolamide, and to establish potential therapeutic indications in nystagmus.
To date, 750 000 patients with COVID-19 worldwide have required mechanical ventilation and thus are at high risk of acute brain dysfunction (coma and delirium). We aimed to investigate the prevalence ...of delirium and coma, and risk factors for delirium in critically ill patients with COVID-19, to aid the development of strategies to mitigate delirium and associated sequelae.
This multicentre cohort study included 69 adult intensive care units (ICUs), across 14 countries. We included all patients (aged ≥18 years) admitted to participating ICUs with severe acute respiratory syndrome coronavirus 2 infection before April 28, 2020. Patients who were moribund or had life-support measures withdrawn within 24 h of ICU admission, prisoners, patients with pre-existing mental illness, neurodegenerative disorders, congenital or acquired brain damage, hepatic coma, drug overdose, suicide attempt, or those who were blind or deaf were excluded. We collected de-identified data from electronic health records on patient demographics, delirium and coma assessments, and management strategies for a 21-day period. Additional data on ventilator support, ICU length of stay, and vital status was collected for a 28-day period. The primary outcome was to determine the prevalence of delirium and coma and to investigate any associated risk factors associated with development of delirium the next day. We also investigated predictors of number of days alive without delirium or coma. These outcomes were investigated using multivariable regression.
Between Jan 20 and April 28, 2020, 4530 patients with COVID-19 were admitted to 69 ICUs, of whom 2088 patients were included in the study cohort. The median age of patients was 64 years (IQR 54 to 71) with a median Simplified Acute Physiology Score (SAPS) II of 40·0 (30·0 to 53·0). 1397 (66·9%) of 2088 patients were invasively mechanically ventilated on the day of ICU admission and 1827 (87·5%) were invasively mechanical ventilated at some point during hospitalisation. Infusion with sedatives while on mechanical ventilation was common: 1337 (64·0%) of 2088 patients were given benzodiazepines for a median of 7·0 days (4·0 to 12·0) and 1481 (70·9%) were given propofol for a median of 7·0 days (4·0 to 11·0). Median Richmond Agitation-Sedation Scale score while on invasive mechanical ventilation was -4 (-5 to -3). 1704 (81·6%) of 2088 patients were comatose for a median of 10·0 days (6·0 to 15·0) and 1147 (54·9%) were delirious for a median of 3·0 days (2·0 to 6·0). Mechanical ventilation, use of restraints, and benzodiazepine, opioid, and vasopressor infusions, and antipsychotics were each associated with a higher risk of delirium the next day (all p≤0·04), whereas family visitation (in person or virtual) was associated with a lower risk of delirium (p<0·0001). During the 21-day study period, patients were alive without delirium or coma for a median of 5·0 days (0·0 to 14·0). At baseline, older age, higher SAPS II scores, male sex, smoking or alcohol abuse, use of vasopressors on day 1, and invasive mechanical ventilation on day 1 were independently associated with fewer days alive and free of delirium and coma (all p<0·01). 601 (28·8%) of 2088 patients died within 28 days of admission, with most of those deaths occurring in the ICU.
Acute brain dysfunction was highly prevalent and prolonged in critically ill patients with COVID-19. Benzodiazepine use and lack of family visitation were identified as modifiable risk factors for delirium, and thus these data present an opportunity to reduce acute brain dysfunction in patients with COVID-19.
None.
For the French and Spanish translations of the abstract see Supplementary Materials section.
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