Biometric and corneal characteristics in marfan syndrome with ectopia lentis.

PURPOSE: To describe the biometric and corneal characteristics of patients with Marfan Syndrome (MFS) and ectopia lentis. STUDY DESIGN: Observational, descriptive, prospective study. Subjects Individuals with MFS with ectopia lentis (EL). METHODS: Fourty-four eyes of 23 patients underwent Scheimpflug analysis using the Pentacam (Oculus, Wetzlar, Germany), axial length (AL) using the IOL master 700 (Carl Zeiss AG, Oberkochen, Germany), endothelial cell count (ECC) using the CEM-350 (NIDEK, Maihama, Japan) and corneal biomechanics evaluation with the Ocular Response Analyzer: ORA (Reichert Ophthalmic Instruments, Buffalo, New York, USA) and Corvis (Oculus, Wetzlar, Germany). Statistical analysis was performed using IBM SPSS Statistics 25.0. RESULTS: The direction of lens subluxation was most frequently supero-nasal 40.9% (18/44). Mean keratometry (Km) was 40.22±1.76 Diopters (D); mean corneal astigmatism was 1.68±0.83 D; total corneal aberrometric root mean square (RMS) was 2.237±0.795µm; higher-order aberrations (HOAs) RMS were 0.576±0.272µm; mean AL was 25.63±3.65mm; mean ECC was 3315±459cell/mm2; mean CBI was 0.13±0.24, mean TBI was 0.31±0.25, mean posterior elevation was 4.3±4.5µm; mean total corneal densitometry was 16.0±2.14 grayscale units (GSU). CONCLUSION: Increased axial length, flatter and thicker corneas with higher regular astigmatism, normal densitometry, normal corneal biomechanical indices and normal posterior elevation were observed in Marfan patients with EL.

Papiledema como posible signo guía en el diagnóstico del síndrome periódico asociado a la criopirina: a propósito de un caso / Papilledema as a possible key sign for diagnosis of cryopyrin-associated periodic syndromes (CAPS): A case report

El síndrome periódico asociado a la criopirina es una enfermedad rara y probablemente infradiagnosticada. Se presenta con manifestaciones sistémicas, entre ellas oftalmológicas, muy diversas, por lo que su diagnóstico supone un reto para el clínico. Presentamos el caso de una niña de 4 años en la que la identificación de papiledema en el examen oftalmológico constituyó el signo guía para el diagnóstico de síndrome periódico asociado a la criopirina. Pretendemos así concienciar sobre esta enfermedad de graves implicaciones y cuyo diagnóstico precoz resulta esencial para los afectados, para que sea tenido en cuenta con mayor frecuencia como diagnóstico diferencial (AU)

Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis (AU)

Papilledema as a possible key sign for diagnosis of cryopyrin-associated periodic syndromes (CAPS): A case report.

Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis.

Concentraciones de oxígeno intermitentes tienen impacto en el desarrollo postnatal temprano de ratas Sprague-Dawley: efectos en CA1 del hipocampo / Intermittent oxygen concentrations have an impact on the early postnatal development of Sprague-Dawley rats: effects on hippocampal CA1

El periodo postnatal temprano se caracteriza por rápido crecimiento cerebral, posiblemente relacionado con variaciones del oxígeno tisular. Esto ha motivado el estudio de protocolos que suministran diferentes concentraciones de oxígeno intermitentes, para observar sus efectos morfológicos y cerebrales. Se utilizaron 52 crías de ratas Sprague Dawley, distribuidas en igual número a cuatro grupos experimentales, Control (C, 21 %O2), Hipoxia Intermitente (HI, 11 %O2), Hiperoxia Intermitente (HOI, 30 %O2) e Hipoxia Hiperoxia Intermitente (HHI, 11 % -30 %O2). Los protocolos consideraron 5 ciclos de 5 minutos de dosificación, durante 50 minutos diarios. Se realizó en una cámara semihermética entre los días 5 al 11 postnatales. Las evaluaciones de crecimiento corporal y cuantificación neuronal, se realizaron en las crías macho, en el día 28 postnatal. El peso corporal en el grupo hipoxia intermitente mostró diferencias significativas respecto al grupo hiperoxia intermitente (HI vs HOI, p<0,01) y al grupo hipoxia-hiperoxia Intermitente (HI vs HHI, p< 0,001). La talla corporal disminuyó en el grupo hipoxia-hiperoxia intermitente con diferencias significativas respecto del grupo control (C vs HHI, p<0,05) y respecto del grupo hipoxia intermitente (HHI vs HI, p< 0,01). El conteo neuronal en el área CA1 del hipocampo aumentó en el grupo hipoxia intermitente con diferencias significativas respecto a los grupos control (C vs HI; p<0,05), al grupo hiperoxia intermitente (HI vs HOI; p<0,001) y al grupo hipoxia-hiperoxia intermitente (HI vs HHI; p<0,001). Finalmente, el grupo hipoxia- hiperoxia Intermitente disminuyó significativamente en la cantidad de neuronas en comparación al grupo hiperoxia intermitente (HHI vs HOI; p<0,001). La hipoxia intermitente mostró resultados beneficiosos en el crecimiento corporal y cantidad de neuronas en el área CA1 del hipocampo, en contraste, la hipoxia hiperoxia intermitente experimentó resultados adversos con disminución de estas variables, en el periodo postnatal temprano de la rata.

SUMMARY: The early postnatal period is characterized by rapid brain growth, possibly related to variations in tissue oxygen. This has motivated the study of protocols that supply different intermittent oxygen concentrations, to observe their morphological and cerebral effects. Fifty-two pups Sprague-Dawley rats were distributed in equal numbers into four experimental groups, Control (C, 21 %O), Intermittent Hypoxia (HI, 11 %O), Intermittent Hyperoxia (HOI, 30 %O2) and Intermittent Hypoxia Hyperoxia (HHI, 11 % - 30 %O2). The protocols considered 5 cycles of 5 min of dosing, for 50 min diary. It was performed in a semi- hermetic chamber between 5 to 11postnatal days. The evaluations of body growth and neuronal quantification were analyzed in male pups, on postnatal day 28. Body weight in the intermittent hypoxia group showed significant differences compared to the intermittent hyperoxia group (HI vs HOI, p<0.01) and the intermittent hypoxia- hyperoxia group (HI vs HHI, p<0.001). Body size decreased in the Intermittent hypoxia-hyperoxia group with significant differences compared to the control group (C vs HHI, p<0.05) and with respect to the intermittent hypoxia group (HHI vs HI, p<0.01). The neuronal count in the area CA1 of the hippocampus increased in the intermittent hypoxia group with significant differences compared to the control groups (C vs HI; p<0.05), to the intermittent hyperoxia group (HI vs HOI; p< 0.001) and the intermittent hypoxia-hyperoxia group (HI vs HHI; p<0.001). Finally, the intermittent hypoxia- hyperoxia group decreased significantly in the number of neurons compared with the intermittent hyperoxia group (HHI vs HOI; p<0.001). Intermittent hypoxia showed beneficial results in body growth and the number of neurons in the CA1 area of the hippocampus, in contrast, intermittent hypoxia-hyperoxia experienced adverse results with a decrease in these variables, in the early postnatal period of the rat.

Effect of obesity on fragility fractures, BMD and vitamin D levels in postmenopausal women. Influence of type 2 diabetes mellitus.

AIMS: To see the effects of obesity on risk fracture, bone density (BMD), and vitamin D levels in a group of postmenopausal women, and consider how comorbid type 2 diabetes mellitus (T2DM) modifies them. METHODS: 679 postmenopausal women were grouped into obese and non-obese. Obese women were grouped into those with T2DM and those without. 25(OH)-vitamin D, PTH and BMD were measured, and prevalent fragility fractures were gathered. RESULTS: Obese women had higher prevalence of T2DM, than non-obese women. Levels of 25(OH)-vitamin D were lower and those of PTH higher in obese women, BMD values were higher in obese women. Diabetic-obese women had a higher prevalence of non-vertebral fractures than non-diabetic-obese. Multivariate logistic regression model showed association of fragility fractures with age, total hip BMD, BMI and T2DM. Obese women have higher BMD and lower 25(OH)-vitamin D values (and higher PTH) than non-obese, without diabetes. CONCLUSIONS: T2DM confers an increased risk of non-vertebral fractures in postmenopausal obese women.

Influencia de la lactancia materna en el metabolismo mineral óseo después de la menopausia / Influence of breastfeeding on bone mineral metabolism after menopause

Objetivo: Los estilos de vida y la historia ginecológica parecen influir en el metabolismo mineral óseo. Existen datos contradictorios sobre los posibles efectos de la lactancia materna en el posterior desarrollo de una osteoporosis densitométrica o la aparición de fracturas por fragilidad. El objetivo de este estudio fue valorar dichos efectos. Material y métodos: Estudio observacional, transversal, abierto, realizado en 758 mujeres postmenopáusicas que fueron clasificadas en dos grupos, dependiendo de que hubieran lactado a sus hijos o no. Se recogieron datos sobre estilos de vida, historia ginecológica y fracturas por fragilidad. Se les realizó una analítica general, con función renal, hepática, lípidos, iones, así como marcadores bioquímicos de remodelado óseo, hormona paratiroidea (PTH) y vitamina D (25HCC). Se les determinó la densidad mineral ósea (DMO) en la columna lumbar y en la extremidad proximal del fémur mediante absorciometría dual de rayos X (DXA). Así mismo se les realizó una medición mediante ultrasonografía cuantitativa (QUS) en el calcáneo del pie dominante. Los datos crudos, después de ser comparados por grupos, fueron ajustados aplicando el método de pareamiento por puntuación de propensión o propensity score matching, realizándose una comparación más precisa de las variables estudiadas. (AU)

Objetive: Lifestyle and gynecological history appear to influence bone mineral metabolism. There are conflicting data on the possible effects of breastfeeding on the subsequent development of densitometric osteoporosis or the development of fragility fractures. The objective of this study was to assess these effects. Material and methods: Observational, cross-sectional, open study, carried out in 758 postmenopausal women who were classified into two groups, depending on whether they had breastfed their children or not. Data were collected on lifestyles, gynecological history and fragility fractures. They underwent a general analysis, with renal and hepatic function, lipids, ions, as well as biochemical markers of bone remodeling, parathyroid hormone (PTH) and vitamin D (25HCC). Bone mineral density (BMD) was determined in the lumbar spine and in the proximal extremity of the femur by dual Xray absorptiometry (DXA). Likewise, a quantitative ultrasound (QUS) measurement was performed on the calcaneus of the dominant foot. The raw data, after being compared by groups, were adjusted by applying the propensity score matching method, making a more precise comparison of the variables studied. (AU)

La suplementación de calcio y vitamina D en el manejo de la osteoporosis. ¿Cuál es la dosis aconsejable de vitamina D? / Calcium and vitamin D supplementation in the management of osteoporosis. What is the advisable dose of vitamin D?

Los fundamentos fisiopatológicos que justifican la suplementación con calcio y vitamina D en la osteoporosis se sustancian en una amplia evidencia científica que se ha obtenido a través de varios ensayos clínicos aleatorizados y posteriores meta-análisis que han demostrado una reducción del riesgo de fracturas osteoporóticas estadísticamente significativa y clínicamente relevante. Esta evidencia ha conducido a su recomendación por parte de varias sociedades científicas interesadas en el manejo de la osteoporosis. Con el fin de optimizar la eficacia y el balance beneficio/riesgo de estos, el calcio y la vitamina D deben administrarse conjuntamente con los fármacos que se prescriban para el tratamiento de la osteoporosis, pues en todos estos estudios de referencia se ha utilizado calcio y vitamina D tanto en la rama que recibe el fármaco como la del placebo. La sal de calcio mayormente utilizada es el carbonato y el metabolito de la vitamina D, el colecalciferol o vitamina D3. No existe consenso ni evidencia científica concluyente sobre cuál es la dosis a emplear en la deficiencia de vitamina D asociada a osteoporosis. No obstante, la tendencia ha sido siempre a ir aumentando estas cantidades, desde las 400 UI que se recomendaban hace unos 30 años a las 2.000 UI diarias de la actualidad. Revisaremos en este artículo cuales son las recomendaciones que se realizan por medio de las guías clínicas, al recoger éstas la evidencia científica disponible. (AU)

The pathophysiological foundations justifying calcium and vitamin D supplements in osteoporosis are supported by extensive scientific evidence that has been obtained through several randomized clinical trials and subsequent meta-analyzes that have shown a statistically significant and clinically relevant reduction in the risk of osteoporotic fractures. This evidence has led to its recommendation by several scientific societies interested in the management of osteoporosis. In order to optimize the efficacy and the benefit/risk balance of these, calcium and vitamin D should be administered together with the drugs that are prescribed for the treatment of osteoporosis, since calcium and vitamin D have been used in all these reference studies, both in the arm that receives the drug and also in the placebo arm. The most commonly used calcium salt is carbonate and the metabolite of vitamin D, cholecalciferol or vitamin D3. There is no consensus or conclusive scientific evidence on the dose to be used in vitamin D deficiency associated with osteoporosis. However, the trend has always been to increase these amounts, from the 400 IU recommended 30 years ago to the 2,000 IU daily today. We will review in this article which recommendations are made by means of the clinical guidelines, as they collect the available scientific evidence. (AU)

Profile of patients who consult with internists for an osteoporosis assessment: The OSTEOMED registry.

BACKGROUND AND OBJECTIVES: Osteoporosis is considered a generalised skeletal disorder in which there is impaired bone resistance, which predisposes the individual to a greater risk of fracture. The aim of this cross-sectional study was to collect and present data on the main clinical characteristics of patients who consult medical internists in Spain. Understanding these characteristics can help in implementing action plans to improve these patients' care more effectively and efficiently. MATERIAL AND METHODS: Through an analysis of the Osteoporosis in Internal Medicine (OSTEOMED) registry, this study presents the main clinical characteristics of patients with osteoporosis who attended internal medicine consultations in 23 Spanish hospital centres between 2012 and 2017. We analysed the reasons for the consultations, the densitometric values, the presence of comorbidities, the prescribed treatment and other lifestyle-related factors. RESULTS: In total, 2024 patients with osteoporosis were assessed (89.87% women, 10.13% men). The patients' mean age was 64.1±12.1 years (women, 64.7±11.5 years; men, 61.2±14.2 years). There was no significant difference between the sexes in their history of recent falls (9.1% and 6.7%); however, there were significant differences in the daily intake of calcium from milk products (553.8±332.6mg for women vs. 450.2±303.3mg for men; p<.001) and in the secondary causes of osteoporosis (13% of men vs. 6.5% of women; p<.001). In the sample, there were 404 fractures (20%), with a notable number of confirmed vertebral fractures (17.2%, 35.6% in men vs. 15.2% in women; p<.001). A large portion of the patients did not undergo the indicated treatment and presented low levels of physical activity and sun exposure. A significant percentage of the patients presented associated comorbidities, the most common of which were hypertension (32%) and dyslipidaemia (28%). CONCLUSIONS: These results define the profile of patients with osteoporosis who attend internal medicine consultations in Spain. The results also show the multisystemic character of this condition, which, along with its high prevalence, determine that the specific internal medicine consultations dedicated to managing the condition are the appropriate place for caring for these patients.

How can the orthopedic surgeon ensure optimal vitamin D status in patients operated for an osteoporotic fracture?

In this narrative review, the role of vitamin D deficiency in the pathophysiology, healing of fragility fractures, and rehabilitation is discussed. Vitamin D status can be assessed by measuring serum 25(OH)-vitamin D level with standardized assays. There is a high prevalence of vitamin D insufficiency (25(OH)D < 50 nmol/l (i.e., 20 ng/mL)) or deficiency (25(OH)D < 25 nmol/l (i.e., 10 ng/mL)) in patients with fragility fractures and especially in those with a hip fracture. The evidence on the effects of vitamin D deficiency and/or vitamin D supplementation on fracture healing and material osseointegration is still limited. However, it appears that vitamin D have a rather positive influence on these processes. The fracture liaison service (FLS) model can help to inform orthopedic surgeons, all caregivers, and fractured patients about the importance of optimal vitamin D status in the management of patients with fragility fractures. Therefore, vitamin D status should be included in Capture the Fracture® program as an outcome of FLS in addition to dual-energy X-ray absorptiometry (DXA) and specific antiosteoporosis medication. Vitamin D plays a significant role in the pathophysiology and healing of fragility fractures and in rehabilitation after fracture. Correction of vitamin D deficiency should be one of the main outcomes in fracture liaison services.

Uricemia como factor pronóstico del ictus isquémico agudo / Hyperuricaemia as a prognostic factor for acute ischaemic stroke

Introducción: En el proceso de búsqueda de biomarcadores para el pronóstico del ictus agudo, en los últimos años los estudios realizados en torno al ácido úrico han mostrado resultados contradictorios.MétodosSe recogieron muestras analíticas de 600 pacientes ingresados de manera consecutiva en un hospital de tercer nivel y se analizó la relación entre los niveles de ácido úrico y el pronóstico funcional de los pacientes medido mediante la escala de Rankin modificada (mRS). Se excluyeron los pacientes que habían recibido terapias de reperfusión, ya que podría existir un efecto diferencial en los mismos respecto a los no tratados.ResultadosEl 73% de los pacientes tuvieron una mRS ≤ 2 y los niveles medios de ácido úrico fueron de 5,22 mg/dl. Se encontró una relación no lineal entre el pronóstico funcional al alta y los niveles de ácido úrico sérico en el momento del ingreso al excluir del análisis la medida de la National Institutes of Health Stroke Scale (NIHSS).ConclusionesLos valores séricos de ácido úrico en pacientes afectos de un ictus isquémico agudo se asocian significativamente con el pronóstico funcional en el momento de su alta, pero esta relación es no lineal. Se asocia un peor pronóstico a las concentraciones extremas, muy bajas o muy elevadas, de ácido úrico. Esto podría revelar un doble papel del ácido úrico en su relación con el ictus, como factor de riesgo asociado y/o como posible neuroprotector dado su papel antioxidante. (AU)

Introduction: Recent studies on uric acid as a biomarker for the prognosis of acute stroke have found conflicting results.MethodsWe collected blood samples from 600 consecutively admitted patients at our tertiary hospital and analysed the relationship between uric acid levels and functional prognosis (measured using the modified Rankin Scale [mRS]). Patients who had received reperfusion therapy were excluded since this may have influenced uric acid levels.ResultsA total of 73% of patients had mRS scores ≤ 2; the mean uric acid level was 5.22 mg/dL. We found a nonlinear relationship between functional prognosis at discharge and serum uric acid levels at admission when the National Institutes of Health Stroke Scale score was excluded from the analysis.ConclusionsSerum uric acid levels in patients with acute ischaemic stroke are significantly associated with functional prognosis at discharge, although this relationship is nonlinear. In fact, poorer prognosis is associated both with very low and with very high concentrations of uric acid. This suggests a dual role of uric acid in relation to stroke: on the one hand, as an associated risk factor, and on the other, as a possible neuroprotective factor due to its antioxidant effect. (AU)