Rapid immunoglobulin test confirms a suspected case of COVID-19 / El test rápido de inmunoglobulinas confirma un caso sospechoso de COVID-19

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Síndrome de Lemierre por Klebsiella pneumoniae / Lemierre syndrome due to Klebsiella pneumoniae

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Sclerostin serum levels in patients with systemic autoimmune diseases.

Systemic autoimmune diseases (SADs) are associated with lower bone mass and an increased risk of fractures. Sclerostin has a pivotal role in bone metabolism. Available data on circulating sclerostin levels in healthy subjects are limited, whereas those in SAD patients are absent. Our objective was to determine circulating sclerostin concentrations in systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and Crohn's disease (CD) patients, and to analyze the factors associated with sclerostin concentrations. In this cross-sectional case-control study, serum sclerostin levels were measured in 38 SLE patients, 20 CD patients, 8 SSc patients and 20 healthy controls using a sclerostin ELISA. The mean values of the sclerostin (95% confidence interval) were 35.36 pmol l(-1) (12-101) in patients and 33.92 pmol l(-1) (2.31-100) in control subjects. The mean sclerostin value was 36.4 pmol l(-1) (22.1-48.5) in SLE patients, 26.7 pmol l(-1) (17.3-36.3) in CD patients and 51.8 pmol l(-1) (26.5-77.1) in SSc patients (P=0.001). Serum sclerostin levels were positively correlated with age (P<0.001), body mass index (BMI) (P=0.01) and lumbar spine Z-score (P=0.001) and negatively with creatinine clearance (P=0.001). Glucocorticoid treatment did not affect sclerostin levels. Sclerostin levels seem to have a heterogeneous pattern in different autoimmune diseases. SLE and SSc patients did not differ from healthy controls regarding sclerostin levels. The CD group had significantly lower values compared with SSc patients. Factors associated with sclerostin levels in autoimmune diseases seem to be the same than in the general population.

Malestar general en el paciente anciano como presentación de síndrome antisintetasa sin afectación muscular / General malaise in the elderly patient as a presentation of antisynthetase syndrome without muscle involvement

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Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.

Inactivating mutations in the BCKDK gene, which codes for the kinase responsible for the negative regulation of the branched-chain α-keto acid dehydrogenase complex (BCKD), have recently been associated with a form of autism in three families. In this work, two novel exonic BCKDK mutations, c.520C>G/p.R174G and c.1166T>C/p.L389P, were identified at the homozygous state in two unrelated children with persistently reduced body fluid levels of branched-chain amino acids (BCAAs), developmental delay, microcephaly, and neurobehavioral abnormalities. Functional analysis of the mutations confirmed the missense character of the c.1166T>C change and showed a splicing defect r.[520c>g;521_543del]/p.R174Gfs1*, for c.520C>G due to the presence of a new donor splice site. Mutation p.L389P showed total loss of kinase activity. Moreover, patient-derived fibroblasts showed undetectable (p.R174Gfs1*) or barely detectable (p.L389P) levels of BCKDK protein and its phosphorylated substrate (phospho-E1α), resulting in increased BCKD activity and the very rapid BCAA catabolism manifested by the patients' clinical phenotype. Based on these results, a protein-rich diet plus oral BCAA supplementation was implemented in the patient homozygous for p.R174Gfs1*. This treatment normalized plasma BCAA levels and improved growth, developmental and behavioral variables. Our results demonstrate that BCKDK mutations can result in neurobehavioral deficits in humans and support the rationale for dietary intervention.

Anticuerpos antineuromielitis óptica en el diagnóstico de las manifestaciones neuropsiquiátricas del lupus eritematoso sistémico / Anti-optic neuromyelitis IgG antibodies and neuropsychiatric manifestations in systemic lupus erythematosus

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Predicción del desarrollo mental a los 20 meses de edad por medio de la evaluación del desarrollo psicomotor a los seis meses de vida en niños sanos / Psychomotor development at six months predicts mental development at 20 months in healthy children

Introduction The study of the possible protector factors and the risk factors can favour or harm women during pregnancy, and so, the infant during the pre- and post-natal periods, has today become a necessary and a high priority objective of world health. In agreement with this proposal, carrying out follow-up programs to prevent, detect and treat consequences in infant development is one of the objectives of Early Care (EC). The follow-up is the way to verify whether the development of the child is occurring within the guidelines of normalcy, or if there is a suspicion that he may be suffering from delays. In order to do this in an appropriate way, one of the necessary conditions is to have access to the tables and instruments that include up-to-date parameters of the course of overall development in the normal population. If the detection and follow-up of risk populations is a key task in the context of early attention, so are the longitudinal studies that use the normal population as the focus of their study. Currently, in various countries in the European Union, important follow-up studies are being carried out of a multi-disciplinary nature (EARNEST Project, NUHEAL Project, and Spanish INMA Network), with the purpose of evaluating the development of the child in general and, specifically, his mental development. These studies take into account, among others, a series of parameters that contemplate the eating habits of the mother, exposure to environmental contaminants, styles of care and the physical, mental and social follow-up of the development of the children up to ages that include adolescence. One of the factors associated with mental development is psychomotricity. The psychomotor development refers to the acquisition of skills observed in the child in a continuous way throughout childhood, and it is associated, on the one hand, with the maturing of the Central Nervous System (proliferation of the dendrites, synaptogenesis and the myelinazation of the axons) from the first months of life up to the age of two. This maturation process has a pre-established order and a clear and predictable sequence: the progress is in a cephalocaudal sense and from proximal to distal. On the other hand, the psychomotor development is also associated with the learning done by the baby and the child in their interactions with themselves and their surroundings, with the affective links they establish based on the affect and stability of the care received and the perception of everything around them (people, images, sounds, movement…). These conditions are determinants in the emotional development, communicative functions, adaptive behaviours and attitude toward learning. It has been proposed that the psychomotor development precedes the mental development and forms the base on which it is established. And although it must be kept in mind that there are degrees of individual variation in normal psychomotor development, depending on the interaction between genetic and environmental factors, it can be said that full term babies who are born healthy follow a pattern of development or skills acquisition. This pattern is clear, and basic milestones have been defined that are easy to measure and that make it possible to know when a child is progressing satisfactorily. In these children, the rhythm of psychomotor development in the first two years of life is quite rapid. At six to seven months, they can sit and crawl; at eight to nine months, they stand up; and at 10 to 12 months, they walk with help. Through their movements and manipulations, they are exploring, imitating, learning and understanding. It is important to observe and rigorously follow the way the psychomotor development is occurring and being established in children because it may provide us with early indications of possible consequences in some parameters of their mental development. Another factor that is related to the mental development, in addition to the psychomotor development, is the somatic growth or development of the child. Numerous studies show how the weight, length and cephalic perimeter are predictors of disorders in development in the case of a risk, high-risk and/or clinical population with established problems and diverse associated pathologies. Therefore, these measures of growth constitute essential parameters to keep in mind for an early intervention in the deviations and disorders in development. In this study, it has been proposed the need to verify whether this relationship of prediction between somatic growth and psychomotor and mental development also occurs in populations of healthy children. The main objective of this study was to describe the evolution of the neurodevelopment in healthy children from the sixth to the 20th month of life. We now present the results of a part of the follow-up from the NUHEAL Project. Material and method The sample studied was composed of 66 (32 boys/34 girls) full-term, healthy infants, with a weight at birth appropriate for their gestational age, born at the San Cecilio Clinical University Hospital in Granada. All of their mothers were participants in the NUHEAL project, and they did not received docosahexaenoic acid and eicosapentaenoic acid supplements. To evaluate the neurodevelopment of the infants, the Bayley Scales of Infant Development (BSID) were used at six months (6.22±0.29) (n:66) and at 20 months (19.56±1.17) (n:56). The evaluation was performed by a psychologist who had been trained for this. The BSID evaluates three aspects of development: motor development, mental development and the behaviour of the child. It provides an index of mental development (MDI) and an index of psychomotor development (PDI). In addition, an evaluation of the somatic or anthropometric development was also performed by an expert paediatrician, taking into account the following variables: weight, height, cephalic and thoracic perimeter at birth, at six months of age and at 20 months. The local Ethical Committee of the University Clinical Hospital "San Cecilio" of Granada approved the study protocol. After a careful explanation of the study details, written informed consent was obtained from all participating women. Results The preliminary data obtained in this study showed that the psychomotor development of the children was greater than the mental development, at both six and 20 months of age, with the mean from the Psychomotor Development Index (PDI) being (107.95±11.70 vs 125.39±10.51) at six and 20 months, respectively, and the mean from the Mental Development Index (MDI) being (97.73±9.14 vs. 119.64±12.41) at six and 20 months of age. The results showed that the MDI at 20 months was greater in those children who had a greater PDI at six months, (F(1. 52)= 4.27; p<0.044). No statistically significant relationships were found between the anthropometric data at six months and the EBDI development indices (MDI and PDI) at 20 months of age.

Introducción El estudio de los posibles factores tanto protectores como de riesgo que puedan favorecer o dañar a la mujer durante el embarazo y, por tanto, al niño en el período prenatal y postnatal, se ha convertido hoy en una necesidad y en un objetivo prioritario de salud mundial. Uno de los objetivos de la Atención Temprana es la realización de programas de seguimiento para prevenir, detectar y tratar secuelas en el desarrollo infantil. El seguimiento es el modo de comprobar si el desarrollo se está produciendo dentro de unas pautas de normalidad. Si la detección y el seguimiento de poblaciones de riesgo son unas tareas claves en la atención temprana, no lo son menos la realización de estudios longitudinales que toman a la población normal como objeto de estudio. Actualmente, en diversos países de la Comunidad Europea se están llevando a cabo importantes estudios aleatorizados con seguimiento longitudinal (proyectos NUHEAL, EARNEST, Red de Excelencia INMA) para evaluar el desarrollo global de los niños sanos y el desarrollo mental, en particular. Dentro de los factores asociados al desarrollo mental se encuentran el desarrollo psicomotor y el desarrollo somático. Numerosos estudios muestran que el peso, la talla y el perímetro cefálico son predictores de trastornos del desarrollo cuando se trata de una población de alto riesgo o con alguna patología. El objetivo principal de este estudio es describir la evolución del neurodesarrollo en niños sanos desde el sexto al vigésimo mes de vida. En este artículo se presentan parte de los resultados del Proyecto Europeo NUHEAL. Material y método Se estudiaron 66 bebés sanos (32 niños / 34 niñas), nacidos a término, con peso al nacimiento apropiado para la edad gestacional, que fueron reclutados en el Hospital Clínico Universitario "San Cecilio" en Granada y cuyas madres eran participantes del proyecto NUHEAL pero que no recibieron suplementación de ácido docosahexaenoico y ácido eicosapentanoico. Se les realizó evaluación del neurodesarrollo a los seis (n:66) y 20 (n:56) meses de edad utilizando las Escalas Bayley de Desarrollo Infantil (EBDI). Estas escalas proporcionan un índice de desarrollo mental (IDM) y un índice de desarrollo psicomotor (IDP). Igualmente se realizó evaluación del desarrollo somático, mediante el estudio antropométrico de las siguientes variables: Peso, talla, perímetro cefálico y torácico al nacimiento, a los seis y 20 meses de edad. El protocolo del presente estudio fue aprobado por el Comité Ético local del Hospital Clínico Universitario <> de Granada. Resultados Los datos mostraron que la población estudiada tenía mayor desarrollo psicomotor que mental tanto a los seis como a los 20 meses de edad, siendo la media del Indice de Desarrollo Psicomotor (IDP) (107.95±11.70 vs 125.39±10.51) a los seis y 20 meses respectivamente, y la media del Índice de Desarrollo Mental (IDM) (97.73±9.14 vs 119.64±12.41) para los seis y 20 meses de edad. Los resultados también muestran que el IDM a los 20 meses es mayor en aquellos niños que tenían un IDP mayor a los seis meses (F (1.52)= 4.27; p<0.044). No se encontraron relaciones estadísticamente significativas entre las variables somatométricas a los seis meses y el IDM e IDP a los 20 meses de edad. Discusión Los resultados de este estudio indican que los niños incluidos en este trabajo de investigación se encuentran dentro de la normalidad. Los niños mostraron un buen desarrollo mental y psicomotor en ambas edades, aunque el desarrollo psicomotor era superior al mental tanto a los 6 como a los 20 meses. El IDP a los seis meses resultó ser un buen predictor del IDM a los 20 meses. Estos resultados corroboran los datos publicados por diversos autores que afirman que el desarrollo psicomotor precede al desarrollo mental, siendo el desarrollo psicomotor un factor protector y una base esencial para el establecimiento de las funciones mentales superiores. Respecto a los datos obtenidos de que ninguna variable somatométrica a los seis meses resultó predictora del desarrollo psicomotor y mental posterior a los 20 meses, probablemente sea debido a que los niños incluidos en este estudio eran niños sanos; si bien esta relación sí parece cumplirse cuando se trata de niños con antecedentes patológicos o en poblaciones de niños de alto riesgo.