324 research outputs found
Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia
In adult patients with congenital adrenal hyperplasia (CAH), the presence
of testicular adrenal rest tumours (TART) is an important complication leading to
gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological, histological, biochemical,
and clinical features of TART and discuss treatment options
Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population
<p>Abstract</p> <p>Background</p> <p>Most research concerning congenital adrenal hyperplasia (CAH) and related conditions caused by primary adrenal insufficiency, such as Addison's or Cushing's disease, has focused on medical aspects rather than on patients' quality of life. Therefore, our objective was to investigate the physical, social and societal functioning of children with CAH and their parents in a Dutch population.</p> <p>Methods</p> <p>The study is descriptive and cross-sectional. Self-designed questionnaires, based on questionnaires developed in the Netherlands for different patient groups, were sent to parents of children with CAH between 0 and 18 years old. Participants were recruited through the Dutch patient group for Adrenal Disease (NVACP) and six hospitals in the Netherlands. Three different questionnaires were designed for parents: for children aged 0 - 4, aged 4 - 12 and aged 12 - 18. Additionally, a fourth questionnaire was sent to adolescents with CAH aged 12 - 18. Main outcome measures were experienced burden of the condition, self-management and participation in several areas, such as school and leisure time.</p> <p>Results</p> <p>A total of 106 parents returned the questionnaire, 12 regarding pre-school children (0-4 years), 63 regarding primary school children (4-12 years), and 32 regarding secondary school children (12-18 years), combined response rate 69.7%. Also, 24 adolescents returned the questionnaire. Children and adolescents with CAH appear to be capable of self-management at a young age. Experienced burden of the condition is low, although children experience several health related problems on a daily basis. Children participate well in school and leisure time. Few children carry a crisis card or emergency injection with them.</p> <p>Conclusions</p> <p>Overall, our research shows that, according to their parents, children with CAH experience few negative effects of the condition and that they participate well in several areas such as school and leisure time. However, improvements can be made concerning the measures parents and children must take to prevent an adrenal crisis.</p
Scalable Katz ranking computation in large static and dynamic graphs
Network analysis defines a number of centrality measures to identify the most central nodes in a network. Fast computation of those measures is a major challenge in algorithmic network analysis. Aside from closeness and betweenness, Katz centrality is one of the established centrality measures. In this paper, we consider the problem of computing rankings for Katz centrality. In particular, we propose upper and lower bounds on the Katz score of a given node. While previous approaches relied on numerical approximation or heuristics to compute Katz centrality rankings, we construct an algorithm that iteratively improves those upper and lower bounds until a correct Katz ranking is obtained. We extend our algorithm to dynamic graphs while maintaining its correctness guarantees. Experiments demonstrate that our static graph algorithm outperforms both numerical approaches and heuristics with speedups between 1.5× and 3.5×, depending on the desired quality guarantees. Our dynamic graph algorithm improves upon the static algorithm for update batches of less than 10000 edges. We provide efficient parallel CPU and GPU implementations of our algorithms that enable near real-time Katz centrality computation for graphs with hundreds of millions of nodes in fractions of seconds
Neutron-Electron EDM Correlations in Supersymmetry and Prospects for EDM Searches
Motivated by recent progress in experimental techniques of electric dipole
moment (EDM) measurements, we study correlations between the neutron and
electron EDMs in common supersymmetric models. These include minimal
supergravity (mSUGRA) with small CP phases, mSUGRA with a heavy SUSY spectrum,
the decoupling scenario and split SUSY. In most cases, the electron and neutron
EDMs are found to be observable in the next round of EDM experiments. They
exhibit certain correlation patterns. For example, if d_n ~ 10^{-27} e cm is
found, d_e is predicted to lie in the range 10^{-28}-10^{-29} e cm.Comment: 16 pages,12 figures. To appear in JHEP. A note on stability of the
correlations added in Conclusions; refs. and footnotes adde
Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol
Registry; Thyroid carcinoma; ChildhoodRegistro; Carcinoma de tiroides; InfanciaRegistre; Carcinoma de tiroides; InfànciaBackground
Although differentiated thyroid carcinoma (DTC) is the most frequent endocrine pediatric cancer, it is rare in childhood and adolescence. While tumor persistence and recurrence are not uncommon, mortality remains extremely low. Complications of treatment are however reported in up to 48% of the survivors. Due to the rarity of the disease, current treatment guidelines are predominantly based on the results of small observational retrospective studies and extrapolations from results in adult patients. In order to develop more personalized treatment and follow-up strategies (aiming to reduce complication rates), there is an unmet need for uniform international prospective data collection and clinical trials.
Methods and analysis
The European pediatric thyroid carcinoma registry aims to collect clinical data for all patients ≤18 years of age with a confirmed diagnosis of DTC who have been diagnosed, assessed, or treated at a participating site. This registry will be a component of the wider European Registries for Rare Endocrine Conditions project which has close links to Endo-ERN, the European Reference Network for Rare Endocrine Conditions. A multidisciplinary expert working group was formed to develop a minimal dataset comprising information regarding demographic data, diagnosis, treatment, and outcome. We constructed an umbrella-type registry, with a detailed basic dataset. In the future, this may provide the opportunity for research teams to integrate clinical research questions.
Ethics and dissemination
Written informed consent will be obtained from all participants and/or their parents/guardians. Summaries and descriptive analyses of the registry will be disseminated via conference presentations and peer-reviewed publications.SFA and ALP are supported by the European Union’s Health Programme (2014–2020) on the EuRRECa project ‘777215/EuRRECa’ and the EuRR-Bone project ‘946831/EuRR-Bone’. The EuRRECa project is also grateful to the European Society of Endocrinology and the European Society for Paediatric Endocrinology for funding support
An Improved Experimental Limit on the Electric Dipole Moment of the Neutron
An experimental search for an electric-dipole moment (EDM) of the neutron has
been carried out at the Institut Laue-Langevin (ILL), Grenoble. Spurious
signals from magnetic-field fluctuations were reduced to insignificance by the
use of a cohabiting atomic-mercury magnetometer. Systematic uncertainties,
including geometric-phase-induced false EDMs, have been carefully studied. Two
independent approaches to the analysis have been adopted. The overall results
may be interpreted as an upper limit on the absolute value of the neutron EDM
of |d_n| < 2.9 x 10^{-26} e cm (90% CL).Comment: 5 pages, 2 figures. The published PRL is slightly more terse (e.g. no
section headings) than this version, due to space constraints. Note a small
correction-to-a-correction led to an adjustment of the final limit from 3.0
to 2.9 E-26 e.cm compared to the first version of this preprin
Body mass index at diagnosis of a childhood brain tumor; a reflection of hypothalamic-pituitary dysfunction or lifestyle?
Purpose: Childhood brain tumor survivors (CBTS) are at risk of becoming overweight, which has been shown to be associated with hypothalamic-pituitary (HP) dysfunction during follow-up. Body mass index (BMI) at diagnosis is related to BMI at follow-up. It is uncertain, however, whether aberrant BMI at brain tumor diagnosis reflects early hypothalamic dysfunction or rather reflects genetic and sociodemographic characteristics. We aimed to examine whether BMI at childhood brain tumor diagnosis is associated with HP dysfunction at diagnosis or its development during follow-up. Methods: The association of BMI at diagnosis of a childhood brain tumor to HP dysfunction at diagnosis or during follow-up was examined in a Dutch cohort of 685 CBTS, excluding children with craniopharyngioma or a pituitary tumor. Individual patient data were retrospectively extracted from patient charts. Results: Of 685 CTBS, 4.7% were underweight, 14.2% were overweight, and 3.8% were obese at diagnosis. Being overweight or obese at diagnosis was not associated with anterior pituitary deficiency or diabetes insipidus at diagnosis or during follow-up. In children with suprasellar tumors, being obese at diagnosis was associated with central precocious puberty. Conclusion: Overweight or obesity at diagnosis of a childhood brain tumor seems not to be associated with pituitary deficiencies. These results suggest that genetics and lifestyle may be more important etiologic factors for higher BMI at diagnosis in these children than hypothalamic dysfunction. To improve the long-term outcome of CBTS with regards to overweight and obesity, more attention should be given to lifestyle already at the time of brain tumor treatment
Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency
CONTEXT: Hydrocortisone treatment of young patients with 21-hydroxylase deficiency (21OHD) is given thrice daily, but there is debate about the optimal timing of the highest hydrocortisone dose, either mimicking the physiological diurnal rhythm (morning), or optimally suppressing androgen activity (evening). OBJECTIVE: We aimed to compare 2 standard hydrocortisone timing strategies, either highest dosage in the morning or evening, with respect to hormonal status throughout the day, nocturnal blood pressure (BP), and sleep and activity scores. METHODS: This 6-week crossover study included 39 patients (aged 4-19 years) with 21OHD. Patients were treated for 3 weeks with the highest hydrocortisone dose in the morning, followed by 3 weeks with the highest dose in the evening (n = 21), or vice versa (n = 18). Androstenedione (A4) and 17-hydroxyprogesterone (17OHP) levels were quantified in saliva collected at 5 am; 7 am; 3 pm; and 11 pm during the last 2 days of each treatment period. The main outcome measure was comparison of saliva 17OHP and A4 levels between the 2 treatment strategies. RESULTS: Administration of the highest dose in the evening resulted in significantly lower 17OHP levels at 5 am, whereas the highest dose in the morning resulted in significantly lower 17OHP and A4 levels in the afternoon. The 2 treatment dose regimens were comparable with respect to averaged daily hormone levels, nocturnal BP, and activity and sleep scores. CONCLUSION: No clear benefit for either treatment schedule was established. Given the variation in individual responses, we recommend individually optimizing dose distribution and monitoring disease control at multiple time points
- …