1,720,970 research outputs found
Organ damage in Sickle Cell Disease: evolution and influence of therapies
No full textIndividuals with sickle cell disease (SCD) progressively develop chronic organ injuries that limit their life expectancy. The effect of disease-modifying and curative (hematopoietic stem cell transplantation, HSCT) therapies on organ damage progression has not been fully elucidated. Biomarkers of organ damage and treatment response are sparse in SCD. Oxygenscan is a novel physiological assay of erythrocytes’ deformability at different oxygen tensions; its parameters could serve as SCD biomarkers. The aims of this project were: to describe the prevalence of chronic damage in the mainly affected organs (brain, eye, heart, lung, kidney and liver) in a cohort of children, adolescents and young adults with SCD prospectively followed according to a standardized protocol; to analyse the effect of disease-modifying and curative therapies on the development of organ damage; to explore the role of oxygenscan parameters as biomarkers of organ damage in SCD. This is a retrospective analysis of prospectively collected real world data on organ damage in SCD patients monitored since 2007 in the Paediatric Haematology, Oncology and Stem Cell Transplant Unit of Padua University Hospital. Data was systematically gathered in a Natural History Study database. Individuals with SCD, any genotype, were enrolled at diagnosis and regularly screened for chronic organ complications according to a standardized protocol based on the guidelines of the Italian Association of Paediatric Haematology and Oncology (AIEOP). Disease-modifying and curative treatments were prescribed according to the same guidelines. The course of organ damage after HSCT was studied adopting a specific follow-up schedule. Steady-state blood samples of untreated and treated patients were prospectively collected since 2023 to measure oxygenscan parameters according to a European protocol. Our study included 242 SCD patients (186 HbSS, 15 HbSβthal0, 36 HbSC, 5 HbSβthal+). The median age at diagnosis was 2.1 years and at the last follow-up 11.3 years, with a median time of observation of 8 years. The overall follow-up of the population corresponds to 2139.9 patient-years. The prevalence of SCD-related injuries among patients with at least one evaluation was: 56.69% for brain large vessels vasculopathy at magnetic resonance angiography (MRA) and 33.99% for silent cerebral infarcts at MRI; 33.58% for retinopathy; 36.76% for lung restrictive dysfunction; 28.35% for albuminuria and 37.79% for renal ultrasound abnormalities. Data on heart and liver involvement was too heterogeneous to be analysed. The cumulative incidence of organ injuries affecting the brain, lung and kidney at different intervals from diagnosis was significantly higher in untreated patients than in those who had received at least one disease-modifying treatment before damage onset. Among the 26 patients who underwent HSCT, signs of macrovasculopathy at transcranial Doppler (TCD) ultrasound and MRA improved after transplant, while brain ischemic lesions and injuries affecting other organs remained stable. A possible correlation was detected between reduced erythrocytes’ deformability at oxygenscan and abnormalities at the ophthalmological visit and renal ultrasound evaluation. Only 2/6 patients with mixed chimerism after HSCT showed altered oxygenscan curves; one of them manifested post-transplant a new onset of mild signs of retinopathy and renal ultrasound abnormalities. A prospective cohort study with a standardized protocol for organ damage monitoring and long-term follow-up provides reliable data on early signs and evolution of chronic complications in children with SCD. Wider and earlier use of disease-modifying and curative treatments might allow prevention or delay of organ damage, with improvement of life expectancy and quality. Some oxygenscan parameters appear promising as biomarkers of SCD chronic complications and treatment response, but further investigations would be necessary to confirm these results
Prevention of neurovascular complications in children with Sickle Cell Disease in the real-world setting: What adult medicine physicians should know
No full textNeurovascular complications represent one of the most detrimental manifestations of Sickle Cell Disease (SCD), affecting many patients since infancy. They include overt stroke, silent cerebral infarcts and neurocog-nitive disorders. In fact, neurodevelopment can be impaired in children resulting in cognitive dysfunction in adults with SCD. This review is meant to resume the most recent guidelines about the prevention of SCD neu-rovascular complications and to highlight the open challenges in their implementation. Transcranial Doppler, Magnetic Resonance Imaging/Angiography and neurocognitive test are useful screening tools. Chronic trans-fusion regimen, hematopoietic stem cell transplantation and neurocognitive rehabilitation find indications in the context of primary and secondary prevention of neurovascular complications of SCD. However, international guidelines are often difficult to bring into the real world due to the lack of appropriate instruments and trained personnel. Many challenges have still to be faced to guarantee the best possible neurocognitive function to each child affected by SCD.(c) 2023 Elsevier Masson SAS. All rights reserved
Successful management of giant hydrocolpos in a limited-resource setting
No full textAbdominal distention and urinary retention are rare manifestations in newborns. The differential diagnosis of a female neonate presenting these signs, especially when combined, should include hydrocolpos due to imperforate hymen. The prognosis of imperforate hymen is generally good, although it can be associated with serious nephro-urologic and infectious complications. Early diagnosis and drainage of hydrocolpos allow prevention and/or improvement of these possible complications. In limited-resource settings, diagnostic imaging is more difficult to obtain, and, therefore, increased caution and an accurate physical exam with perineal inspection are essential. We report the case of a 8-day-old female neonate showing abdominal distention and urinary retention. She had a final diagnosis of imperforate hymen with giant hydrocolpos, complicated by obstructive uropathy and following urosepsis and bladder perforation
Gastroschisis Spiral-like Closure with Umbilical Cord in a Limited-resource Setting: A Case Report
Full text linkGastroschisis is one of the most frequent congenital surgical problems in fetuses and neonates, with a continuously increasing incidence worldwide. In limited-resource settings, the management of this condition is difficult, and the mortality rates are much higher than those observed in high-income countries. We report the case of a newborn with gastroschisis and viscero-abdominal disproportion, submitted to abdominal wall closure through utilization of umbilical cord tissue. This technique has not already been applied in low-resource countries, where it can show advantages such as lower risk of abdominal compartment syndrome and local infection, high availability, and low cost.</jats:p
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Full text linkWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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