1,720,966 research outputs found
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
Complex relationship between growth hormone and sleep in children: insights, discrepancies, and implications
Full text linkGrowth hormone (GH) is crucial to growth and development. GH secretion is regulated by a complex feedback system involving the pituitary gland, hypothalamus, and other organs, and predominantly occurs during deep sleep. Isolated and idiopathic growth hormone deficiency (GHD) is a condition characterized by GHD without any other signs or symptoms associated with a specific syndrome or disease. The aim of this narrative review was to evaluate the relationship between GH and sleep in children using published data. Various databases (Medline/PubMed, Scopus, and Web of Science) were systematically searched for relevant English language articles published up to April 2023. Search strategies included the terms ‘children/pediatric’, ‘growth hormone’, ‘growth hormone deficiency’ and ‘sleep’. Data were extracted by two independent reviewers; 185 papers were identified of which 58 were duplicates and 118 were excluded (unrelated n=83, syndromic/genetic GHD n=17, non-English n=13, abstract n=1, case report n=1). Overall, nine studies (six clinical studies, two case series, and one survey) were included. GHD appears to have an adverse effect on sleep in children, and GH therapy has only been shown to have a beneficial effect on sleep parameters in some individuals. Notably, identified data were limited, old/poor quality, and heterogenous/inconsistent. Further research of GHD in pediatric populations is necessary to improve the understanding of GHD impact on sleep and its underlying mechanisms, and to determine the specific impacts of GH therapy on sleep in children
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
Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?
Full text linkBackground: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder and one of the most preventable causes of intellectual disability. The underlying etiology of CH can be thyroid dysgenesis or dyshormonogenesis, and in rare cases, CH can occur as part of a genetic syndrome. Sotos syndrome is a rare overgrowth disorder caused by pathogenic variants in the NSD1 gene, characterized by excessive growth in infancy, distinctive facial features, and developmental delay. Case presentation: We describe two unrelated children with permanent CH and genetically confirmed Sotos syndrome. Both children were referred to our Pediatric Endocrinology Centre due to abnormal thyroid-stimulating hormone (TSH) values detected through neonatal screening. A permanent CH was confirmed in both cases: one patient had thyroid hypoplasia with the presence of only the right thyroidal lobe; the other one had an in-situ thyroid gland. The diagnosis of Sotos syndrome was made later in infancy. In the first case, auxological parameters at birth were within normal ranges and overgrowth became apparent after six months of age; in the second case, overgrowth was already manifest at birth, but the diagnosis was guided primarily by the neurodevelopmental delay. Conclusion: We describe two cases in which CH occurred with Sotos syndrome, and we hypothesize that this association may not be coincidental. To our knowledge, these are among the few reported cases of genetically confirmed Sotos syndrome associated with permanent congenital hypothyroidism. Further studies are needed to determine whether CH is a clinical feature of Sotos syndrome or an unrelated finding. We recommend early thyroid function testing in patients with Sotos syndrome and suggest suspecting Sotos syndrome in children presenting with CH, cognitive delay and overgrowth or additional congenital anomalies
Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study
No full textThe use of intravenous bisphosphonates has been linked to hypocalcemia both in children and adults with osteogenesis imperfecta (OI). The aims of this study were: (1) to investigate the incidence of hypocalcemia in the first 48 hours (T48) after neridronate infusion in a pediatric population with OI and (2) to assess any correlation between the baseline values of calcium, vitamin D (25-hydroxyvitamin D) and bone turnover markers, and the postinfusion calcium values. We conducted a prospective observational study on 37 pediatric patients. All patients were treated with a single infusion of neridronate at a dose of 1 to 2 mg/kg. The study provided two postinfusion reassessments: 24 hours (T24) and T48 after neridronate administration. Hypocalcemia was observed in 11% of patients at T24 and in 50% of patients at T48 from neridronate infusion. We observed a positive linear correlation between the baseline vitamin D values and postinfusion calcium values, both at baseline and at T24 and T48. Hypocalcemia was mild and asymptomatic in all cases. Postinfusion calcium levels were related to baseline vitamin D levels. Consequently, low vitamin D levels should be considered a significant risk factor for hypocalcemia and should be carefully investigated and treated before neridronate infusion
Mapping the Fat: How Childhood Obesity and Body Composition Shape Obstructive Sleep Apnoea
Full text linkBackground/Objectives: Childhood obesity represents a growing public health concern. It is closely associated with obstructive sleep apnoea (OSA), which impairs nocturnal breathing and significantly affects neurocognitive and cardiovascular health. This review aims to analyse differences in fat distribution, anthropometric parameters, and instrumental assessments of paediatric OSA compared to adult OSA to improve the diagnostic characterisation of obese children. Methods: narrative review. Results: While adenotonsillar hypertrophy (ATH) remains a primary cause of paediatric OSA, the increasing prevalence of obesity has introduced distinct pathophysiological mechanisms, including fat accumulation around the pharynx, reduced respiratory muscle tone, and systemic inflammation. Children exhibit different fat distribution patterns compared to adults, with a greater proportion of subcutaneous fat relative to visceral fat. Nevertheless, cervical and abdominal adiposity are crucial in increasing upper airway collapsibility. Recent evidence highlights the predictive value of anthropometric and body composition indicators such as neck circumference (NC), neck-to-height ratio (NHR), neck-to-waist ratio (NWR), fat-to-muscle ratio (FMR), and the neck-to-abdominal-fat percentage ratio (NAF%). In addition, ultrasound assessment of lateral pharyngeal wall (LPW) thickness and abdominal fat distribution provides clinically relevant information regarding anatomical contributions to OSA severity. Among imaging modalities, dual-energy X-ray absorptiometry (DXA), bioelectrical impedance analysis (BIA), and air displacement plethysmography (ADP) have proven valuable tools for evaluating body fat distribution. Conclusions: Despite advances in the topic, a validated predictive model that integrates these parameters is still lacking in clinical practice. Polysomnography (PSG) remains the gold standard for diagnosis; however, its limited accessibility underscores the need for complementary tools to prioritise the identification of children at high risk. A multimodal approach integrating clinical, anthropometric, and imaging data could support the early identification and personalised management of paediatric OSA in obesity
Previously Unreported TMEM38B Variant in Osteogenesis Imperfecta Type XIV: A Case Report and Systematic Review of the Literature
No full textOsteogenesis imperfecta (OI) type XIV is a rare recessive disorder caused by TMEM38B pathogenic variants that disrupt an endoplasmic reticulum protein essential for calcium homeostasis and bone mineralization. This leads to severe bone fragility, early-onset fractures, skeletal deformities, low bone mass, scoliosis, and variable features like blue sclerae or dental abnormalities. We present a case report of a 21-year-old Italian male with a novel homozygous TMEM38B splice variant (c.112 + 1G > T), detailing the clinical presentation, genetic findings, and therapeutic outcomes. The patient exhibited multiple skeletal deformities and showed a moderate response to bisphosphonate therapy (neridronate). In addition, a systematic review of PubMed and Scopus identified 12 relevant studies from an initial set of 82 publications, encompassing data from 56 patients diagnosed with OI type XIV. Unlike classical collagen-related OI, TMEM38B-related OI necessitates genetic screening beyond classical collagen genes (COL1A1 and COL1A2). While bisphosphonates provide some clinical benefit, persistent fractures underscore the need for long-term management and innovative therapies. This case report and systematic review enhance understanding of OI type XIV and underscore the clinical importance of TMEM38B variants in bone fragility disorders
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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