Traditionally the gold-standard technique for the treatment of spontaneous abortion has been uterine evacuation by aspiration curettage. However, many studies have proposed medical treatment with ...misoprostol as an alternative to the conventional surgical treatment. The aim of this study was to apply cost minimization methods to compare the cost and effectiveness of the use of vaginal misoprostol as a medical treatment for first trimester spontaneous abortion with those of evacuation curettage as a surgical treatment.
We present a longitudinal, prospective and quasi-experimental research study including a total of 547 patients diagnosed with first-trimester spontaneous abortion, in the period from January 2013 to December 2015. Patients were offered medical treatment with 800 mg vaginal misoprostol or evacuation curettage. Patients treated with misoprostol were followed-up at 7 days and a transvaginal ultrasound was performed to confirm the success of the treatment. If it failed, a second dose of 800 mg of vaginal misoprostol was prescribed and a new control ultrasound was performed. In case of failure of medical treatment after the second dose of misoprostol, evacuation curettage was indicated. The effectiveness of each of the treatment options was calculated using a decision tree. The cost minimization study was carried out by weighting each cost according to the effectiveness of each branch of the treatment. Of the 547 patients who participated in the study, 348 (64%) chose medical treatment and 199 (36%) chose surgical treatment. The overall effectiveness of medical treatment was 81% (283/348) and surgical treatment of 100%. The estimated final cost for medical treatment was € 461.92 compared to € 2038.72 for surgical treatment, which represents an estimated average saving per patient of € 1576.8.
Medical treatment with misoprostol is a cheaper alternative to surgery: in the Spanish Public Healthcare System, it is five times more inexpensive than curettage. Given its success rates higher than 80%, mild side effects, controllable with additional medication and the high degree of overall satisfaction, it should be prioritized over the evacuation curettage in patients who meet the treatment criteria.
Essentials
Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed.
Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia.
...High‐throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias.
Accurate characterization of sitosterolemia helps us determine appropriate management.
Summary
Background
Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes. Increased levels of plasma plant sterols (PSs) usually result in xanthomas and premature coronary atherosclerosis, although hematologic abnormalities may occasionally be present. This clinical picture is unfamiliar to many physicians, and patients may be at high risk of misdiagnosis.
Objectives
To report two novel ABCG5 variants causing STSL in a Spanish patient, and review the clinical and mutational landscape of STSL.
Patient/Methods
A 46‐year‐old female was referred to us with lifelong macrothrombocytopenia. She showed familial hypercholesterolemia‐related xanthomas. Molecular analysis was performed with high‐throughput sequencing. Plasma PS levels were evaluated with gas–liquid chromatography. The STSL landscape was reviewed with respect to specific online databases and all reports published since 1974.
Results
A blood smear revealed giant platelets and stomatocytes. Novel compound heterozygous variants were detected in exons 7 (c.914C>G) and 13 (c.1890delT) of ABCG5. The patient showed an increased plasma level of sitosterol. These findings support the diagnosis of STSL. In our review, we identified only 25 unrelated STLS patients who presented with hematologic abnormalities including macrothrombocytopenia. It remains unknown why only some patients develop hematologic abnormalities.
Conclusions
This is the first Spanish STSL patient to be reported and molecularly characterized. The early diagnosis of STLS is strongly supported by the presence of stomatocytes in blood smears. The definitive diagnosis of STSL by measurement of serum PS levels and molecular analyses prompted the use of ezetimibe therapy.
Evolutionary theory has long proposed a connection between trait evolution and diversification rates. In this work, we used phylogenetic methods to evaluate the relationship of lineage-specific ...speciation rates and the mode of evolution of body size and tooth morphology in the Neogene and Quaternary radiation of horses (7 living and 131 extinct species). We show that diversification pulses are a recurrent feature of equid evolution but that these pulses are not correlated with rapid bursts in phenotypic evolution. Instead, rapid cladogenesis seems repeatedly associated with extrinsic factors that relaxed diversity bounds, such as increasing productivity and geographic dispersals into the Old World. This evidence suggests that diversity dynamics in Equinae were controlled mainly by ecological limits under diversity dependence rather than rapid ecomorphological differentiation.
Abstract
A common approach for calculating the spatial distribution of groundwater level changes consists in choosing a set of different times, interpolating the groundwater level data available at ...each time over a spatial grid, and then calculating changes in each period by subtracting the interpolated values for these times. However, this can produce misleading results when the data are available in different positions for consecutive times. This paper presents an alternative procedure based on the interpolation of the groundwater level with spatio-temporal kriging, the assessment of the temporal groundwater elevation changes over a regional semiconfined aquifer, and the estimation of their error standard deviations. A comparative analysis of cross-validation results and error standard deviations provides a quantitative measure of the superiority of the introduced approach with respect to the one given in the literature. Moreover, the spatio-temporal case produces more reasonable estimates than the spatial kriging, notably fewer extreme recoveries and drawdowns, in an area under high water stress, such as the upper aquifer of the southern part of the Basin of Mexico aquifer system.
Résumé
Une approche courante pour calculer la distribution spatiale des variations du niveau des eaux souterraines consiste à choisir un ensemble de périodes différentes, à interpoler les données des niveaux des eaux souterraines disponibles à chaque période sur une grille spatiale, puis à calculer les variations pour chaque période en soustrayant les valeurs interpolées pour ces périodes. Cependant, cette méthode peut produire des résultats trompeurs lorsque les données sont disponibles à des positions différentes pour des périodes consécutives. Cet article présente une procédure alternative basée sur l’interpolation du niveau des eaux souterraines avec le krigeage spatio-temporel, l’évaluation des changements temporels de l’élévation des eaux souterraines sur un aquifère semi-confiné régional, et l’estimation de leurs écarts types d’erreur. Une analyse comparative des résultats de la validation croisée et des écarts types d’erreur fournit une mesure quantitative de la supériorité de l’approche introduite par rapport à une approche donnée dans la littérature. En outre, le cas spatio-temporel produit des estimations plus raisonnables que le krigeage spatial, notamment moins de remontées et de rabattements extrêmes des niveaux d’eau souterraine, dans une zone soumise à un stress hydrique élevé, comme l’aquifère supérieur de la partie méridionale du système aquifère du bassin de Mexico.
Resumen
Un planteamiento habitual para calcular la distribución espacial de los cambios del nivel de las aguas subterráneas consiste en elegir un conjunto de tiempos diferentes, interpolar los datos del nivel de las aguas subterráneas disponibles en cada tiempo en una cuadrícula espacial y, a continuación, calcular los cambios en cada periodo restando los valores interpolados para esos tiempos. Sin embargo, esto puede producir resultados engañosos cuando los datos están disponibles en diferentes posiciones para tiempos consecutivos. Este trabajo presenta un procedimiento alternativo basado en la interpolación del nivel freático con kriging espacio-temporal, la evaluación de los cambios temporales de elevación del agua subterránea sobre un acuífero semiconfinado regional, y la estimación de sus desviaciones de error estándar. Un análisis comparativo de los resultados de la validación cruzada y de las desviaciones de error estándar proporciona una medida cuantitativa de la ventaja del enfoque introducido con respecto al que se ofrece en la bibliografía. Además, el caso espacio-temporal produce estimaciones más razonables que el kriging espacial, en particular menos recuperaciones y depresiones extremas, en una zona sometida a gran estrés hídrico, como es el acuífero superior de la parte sur del sistema acuífero de la Cuenca de México.
摘要
计算地下水位变化的常见方法是选择一组不同的时间点，在空间网格上插值每个时间点上可用的地下水位数据，然后通过减去这些时间点的插值来计算每个时段的变化。然而，当数据在连续的时间点上以不同位置提供时，这种方法可能产生错误的结果。本文介绍了一种基于时空克里金插值的替代方法，用于评估区域半承压含水层的地下水位随时间的变化，并估计其误差标准差。通过对交叉验证结果和误差标准差进行比较分析，可以定量评估所介绍的方法相对于文献中给出的方法的优越性。此外，时空情景下的方法产生的估计结果比空间克里金方法更合理，尤其是在墨西哥盆地南部上层含水层高用水区中，出现的极端恢复和水位下降现象更少。
Resumo
Uma abordagem comum para calcular a distribuição espacial das mudanças no nível do lençol freático consiste em escolher um conjunto de diferentes tempos, interpolar os dados do nível do lençol freático disponíveis em cada momento em uma grade espacial e, em seguida, calcular as mudanças em cada período subtraindo os valores interpolados para esses tempos. No entanto, isso pode produzir resultados enganosos quando os dados estão disponíveis em posições diferentes por vezes consecutivas. Este artigo apresenta um procedimento alternativo baseado na interpolação do nível do lençol freático com krigagem espaço-temporal, na avaliação das mudanças temporais de elevação do lençol freático em um aquífero semiconfinado regional e na estimativa de seus desvios padrão de erro. Uma análise comparativa dos resultados da validação cruzada e desvios padrão de erro fornece uma medida quantitativa da superioridade da abordagem introduzida em relação a uma dada na literatura. Além disso, o caso espaço-temporal produz estimativas mais razoáveis do que a krigagem espacial, notavelmente menos recuperações e rebaixamentos extremos, em uma área sob alto estresse hídrico, como o aquífero superior da parte sul do sistema aquífero da Bacia do México.
General intelligence is a robust predictor of important life outcomes, including educational and occupational attainment, successfully managing everyday life situations, good health and longevity. ...Some neuronal correlates of intelligence have been discovered, mainly indicating that larger cortices in widespread parieto-frontal brain networks and efficient neuronal information processing support higher intelligence. However, there is a lack of established associations between general intelligence and any basic structural brain parameters that have a clear functional meaning. Here, we provide evidence that lower brain-wide white matter tract integrity exerts a substantial negative effect on general intelligence through reduced information-processing speed. Structural brain magnetic resonance imaging scans were acquired from 420 older adults in their early 70s. Using quantitative tractography, we measured fractional anisotropy and two white matter integrity biomarkers that are novel to the study of intelligence: longitudinal relaxation time (T1) and magnetisation transfer ratio. Substantial correlations among 12 major white matter tracts studied allowed the extraction of three general factors of biomarker-specific brain-wide white matter tract integrity. Each was independently associated with general intelligence, together explaining 10% of the variance, and their effect was completely mediated by information-processing speed. Unlike most previously established neurostructural correlates of intelligence, these findings suggest a functionally plausible model of intelligence, where structurally intact axonal fibres across the brain provide the neuroanatomical infrastructure for fast information processing within widespread brain networks, supporting general intelligence.
Summary
The landscape of medical sequencing has rapidly changed with the evolution of next generation sequencing (NGS). These technologies have contributed to the molecular characterization of the ...myelodysplastic syndromes (MDS) and chronic myelomonocytic leukaemia (CMML), through the identification of recurrent gene mutations, which are present in >80% of patients. These mutations contribute to a better classification and risk stratification of the patients. Currently, clinical laboratories include NGS genomic analyses in their routine clinical practice, in an effort to personalize the diagnosis, prognosis and treatment of MDS and CMML. NGS technologies have reduced the cost of large‐scale sequencing, but there are additional challenges involving the clinical validation of these technologies, as continuous advances are constantly being made. In this context, it is of major importance to standardize the generation, analysis, clinical interpretation and reporting of NGS data. To that end, the Spanish MDS Group (GESMD) has expanded the present set of guidelines, aiming to establish common quality standards for the adequate implementation of NGS and clinical interpretation of the results, hoping that this effort will ultimately contribute to the benefit of patients with myeloid malignancies.
Genetic events mediating transformation from premalignant monoclonal gammopathies (MG) to multiple myeloma (MM) are unknown. To obtain a comprehensive genomic profile of MG from the early to late ...stages, we performed high-resolution analysis of purified plasma cells from 20 MGUS, 20 smoldering MM (SMM) and 34 MM by high-density 6.0 SNP array. A progressive increase in the incidence of copy number abnormalities (CNA) from MGUS to SMM and to MM (median 5, 7.5 and 12 per case, respectively) was observed (P=0.006). Gains on 1q, 3p, 6p, 9p, 11q, 19p, 19q and 21q along with 1p, 16q and 22q deletions were significantly less frequent in MGUS than in MM. Although 11q and 21q gains together with 16q and 22q deletions were apparently exclusive of MM status, we observed that these abnormalities were also present in minor subclones in MGUS. Overall, a total of 65 copy number-neutral LOH (CNN-LOH) were detected. Their frequency was higher in active MM than in the asymptomatic entities (P=0.047). A strong association between genetic lesions and fragile sites was also detected. In summary, our study shows an increasing genomic complexity from MGUS to MM and identifies new chromosomal regions involved in CNA and CNN-LOH.
Breastfeeding is recognized worldwide as the best option for infant feeding. Expressing breast milk is an alternative for mothers to provide their infants all the benefits of maternal milk. During ...breast milk expression, mothers receive a distinct kind of sensory stimulation, because there is no direct bodily or affective interaction with their infants, many women report feeling isolated, generating a love-hate relation with pumping, and even low levels of satisfaction while expressing breast milk. While it is well known that the prefrontal, parietal, and temporal cortices play important roles in the emotional and cognitive processing of maternal stimuli, knowledge about how these cortical areas function during breastfeeding is lacking. This study was designed to characterize EEG activity in the prefrontal and parietal cortices and the affective scores of primiparous breastfeeding mothers during two conditions of milk expression: breast milk expression and direct breastfeeding. Participants reported higher valence and arousal and a pleasant state during direct breastfeeding. In the direct breastfeeding condition, both prefrontal areas showed a higher absolute power (AP) of the slow bands, with a lower AP of the alpha band in the parietal cortex. A lower correlation between frontopolar and dorsolateral areas with a higher correlation between prefrontal and parietal cortices was obtained mainly in the right hemisphere. This EEG activity could be linked to an internal state of focused attention and, simultaneously, open monitoring of the environment that suggests an integration of the motive-emotional and cognitive processes necessary for adequate mother-baby interaction during direct breastfeeding.
•During direct breastfeeding, prefrontal areas showed higher absolute power in the slow bands.•EEG activity during direct breastfeeding could be related to a motivational-cognitive state.•Direct breastfeeding is a pleasurable state for the mother.
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