Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study

Introduction: Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases. Objectives: Aims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH. Materials and methods: The TSH threshold of the neonatal screening was established as ≥6 mU/L of whole blood. We analysed the screening centre data in the period January 2013–April 2018, for a total number of 85.373 babies (45.7% males; 54.3% females). Results: 4.082 Babies (4.8%) required a second screening. Among these, 372 (0.44%) were out of range. The diagnosis of congenital hypothyroidism (CH) was confirmed in 182 babies (0.21%). 77/372 newborns (20.7%) with confirmed high TSH levels showed whole blood TSH levels ≥6 - < 7 mU/L. In synthesis, 48.9% of the out of range re-testing had a confirmed diagnosis of CH. Conclusion: The reduction of TSH cutoff to 6 mU/L allowed to identify 77/372 neonates (20.7%) with confirmed out of range TSH, otherwise not recruited by the previously employed TSH cutoff

The supernova impostor PSN J09132750+7627410 and its progenitor

We report the results of our follow-up campaign of the supernova impostor PSN J09132750+7627410, based on optical data covering $\sim250\,\rm{d}$. From the beginning, the transient shows prominent narrow Balmer lines with P-Cygni profiles, with a blue-shifted absorption component becoming more prominent with time. Along the $\sim3\,\rm{months}$ of the spectroscopic monitoring, broad components are never detected in the hydrogen lines, suggesting that these features are produced in slowly expanding material. The transient reaches an absolute magnitude $M_r=-13.60\pm0.19\,\rm{mag}$ at maximum, a typical luminosity for supernova impostors. Amateur astronomers provided $\sim4\,\rm{years}$ of archival observations of the host galaxy, NGC 2748. The detection of the quiescent progenitor star in archival images obtained with the Hubble Space Telescope suggests it to be an $18-20$\msun white-yellow supergiant.Comment: 7 pages, 4 figures, supplemental material available in the source file. Accepted for publication on Astrophysical Journal Letter

Androgen metabolism and inhibition of interleukin-1 synthesis in primary cultured human synovial macrophages

The presence of androgen receptors on synovial macrophages in human normal and rheumatoid synovial tissues has been described previously. It is now reported that primary cultured human macrophages obtained from normal and rheumatoid synovia express functional androgen receptors. We have investigated the capacity of cultured macrophages to metabolize androgens and have found that these cells were capable of metabolizing testosterone to the bioactive metabolite dihydrotestosterone. Therefore, macrophages contain the key enzymes of steroidogenesis, in particular the 5α-treductase. Furthermore, interleukin-1β production by primary cultured rheumatoid macrophages was analysed, following exposure to physiological concentrations of testosterone (10−8 M). A significant decrease of IL-1β levels in conditioned media after 24 h (p < 0.05) was observed. It is concluded that androgens may act directly on human macrophages and may interfere with some of their functions via receptor-dependent mechanisms

Ternary Quarter Wavelength Coatings for Gravitational Wave Detector Mirrors: Design Optimization via Exhaustive Search

Multimaterial optical coatings are a promising viable option to meet the challenging requirements (in terms of transmittance, absorbance and thermal noise) of next generation gravitational wave detector mirrors. In this paper we focus on ternary coatings consisting of quarter-wavelength thick layers, where a third material (H') is added to the two presently in use, namely Silica (L) and Titania-doped Tantala (H), featuring higher dielectric contrast (against Silica), and lower thermal noise (compared to Titania-doped Tantala), but higher optical losses. We seek the optimal material sequences, featuring minimal thermal (Brownian) noise under prescribed transmittance and absorbance constraints, by exhaustive simulation over all possible configurations, for different values (in a meaningful range) of the optical density and extinction coefficient of the third material. In all cases studied, the optimal designs consist of a stack of (H'|L) doublets topped by a stack of (H|L) doublets, confirming previous heuristic assumptions, and the achievable coating noise power spectral density reduction factor is \sim 0.5. The robustness of the found optimal designs against layer thickness deposition errors and uncertainties and/or fluctuations in the optical losses of the third material is also investigated. Possible margins for further thermal noise reduction by layer thickness optimization, and strategies to implement it, are discussed.Comment: (twocolum style) 13 pages, 8 figures, 4 table (updated version 5) Appearing on Physical Review Researc

Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: A European consensus statement

Rasmussen encephalitis (RE) is a rare but severe immune-mediated brain disorder leading to unilateral hemispheric atrophy, associated progressive neurological dysfunction and intractable seizures. Recent data on the pathogenesis of the disease, its clinical and paraclinical presentation, and therapeutic approaches are summarized. Based on these data, we propose formal diagnostic criteria and a therapeutic pathway for the management of RE patient

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening: The Application of a Second-Tier Test

Abstract The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonates were immediately recalled for confirmatory tests and resulted negative for both isovaleric acidemia and short/branched chain acyl-CoA dehydrogenase deficiency. In the other 9 cases, the immediate recall was avoided by applying a new second-tier test able to confirm the presence of pivaloylcarnitine. The concentration of C5-acylcarnitine was measured in the days following the suspension of balm application. Abnormal concentrations of C5-acylcarnitine did not seem to be associated with free carnitine deficiency, probably due to the short time of exposure. A direct correlation between balm ingestion and the elevation in pivaloylcarnitine has been demonstrated in 10 adult volunteers. The commercial balm containing a pivalic acid derivative is causal of false-positive results during newborn screening, and it could have the potential to cause secondary carnitine deficiency when used chronically