Shwachman Diamond Syndrome: an emergency challenge

Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic analysis. Sometimes, a life-threatening event may be the first clinical manifestation of the syndrome

Shwachman Diamond Syndrome: an emergency challenge

Shwachman Diamond Syndrome is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction and skeletal abnormalities. No specific test is available for a definitive diagnosis for SDS. In the presence of clinical features of SDS, pancreatic insufficiency should be tested for or lipomatosis radiologically demonstrated. New directions might be found in genetic analysis. Sometimes, a life-threatening event may be the first clinical manifestation of the syndrome

Treatment and Long-Term Sequelae in Childhood Brain Tumors

In children treated for brain tumors, important deficits in cognitive development have been described. The reduction of Intelligence Quotient (IQ) is correlated with multiple conditions such as tumor location, obstructive hydrocephalus, surgical intervention, and above all, the use of radiotherapy, especially in young children. Demyelinization represents the most striking microscopic alteration following radiation: cerebral white matter's loss and failure to white matter development could partly account for changes in IQ score.Recently, combined chemo-radiotherapeutic approaches and the improvement of radiotherapy techniques have enabled the reduction of neurocognitive symptoms and improved the standard of life of childhood brain tumor survivors

POLARIX: a pathfinder mission of X-ray polarimetry

Since the birth of X-ray astronomy, spectral, spatial and timing observation improved dramatically, procuring a wealth of information on the majority of the classes of the celestial sources. Polarimetry, instead, remained basically unprobed. X-ray polarimetry promises to provide additional information procuring two new observable quantities, the degree and the angle of polarization. POLARIX is a mission dedicated to X-ray polarimetry. It exploits the polarimetric response of a Gas Pixel Detector, combined with position sensitivity, that, at the focus of a telescope, results in a huge increase of sensitivity. Three Gas Pixel Detectors are coupled with three X-ray optics which are the heritage of JET-X mission. POLARIX will measure time resolved X-ray polarization with an angular resolution of about 20 arcsec in a field of view of 15 arcmin $\times$ 15 arcmin and with an energy resolution of 20 % at 6 keV. The Minimum Detectable Polarization is 12 % for a source having a flux of 1 mCrab and 10^5 s of observing time. The satellite will be placed in an equatorial orbit of 505 km of altitude by a Vega launcher.The telemetry down-link station will be Malindi. The pointing of POLARIX satellite will be gyroless and it will perform a double pointing during the earth occultation of one source, so maximizing the scientific return. POLARIX data are for 75 % open to the community while 25 % + SVP (Science Verification Phase, 1 month of operation) is dedicated to a core program activity open to the contribution of associated scientists. The planned duration of the mission is one year plus three months of commissioning and SVP, suitable to perform most of the basic science within the reach of this instrument.Comment: 42 pages, 28 figure

XIPE: the X-ray Imaging Polarimetry Explorer

X-ray polarimetry, sometimes alone, and sometimes coupled to spectral and temporal variability measurements and to imaging, allows a wealth of physical phenomena in astrophysics to be studied. X-ray polarimetry investigates the acceleration process, for example, including those typical of magnetic reconnection in solar flares, but also emission in the strong magnetic fields of neutron stars and white dwarfs. It detects scattering in asymmetric structures such as accretion disks and columns, and in the so-called molecular torus and ionization cones. In addition, it allows fundamental physics in regimes of gravity and of magnetic field intensity not accessible to experiments on the Earth to be probed. Finally, models that describe fundamental interactions (e.g. quantum gravity and the extension of the Standard Model) can be tested. We describe in this paper the X-ray Imaging Polarimetry Explorer (XIPE), proposed in June 2012 to the first ESA call for a small mission with a launch in 2017 but not selected. XIPE is composed of two out of the three existing JET-X telescopes with two Gas Pixel Detectors (GPD) filled with a He-DME mixture at their focus and two additional GPDs filled with pressurized Ar-DME facing the sun. The Minimum Detectable Polarization is 14 % at 1 mCrab in 10E5 s (2-10 keV) and 0.6 % for an X10 class flare. The Half Energy Width, measured at PANTER X-ray test facility (MPE, Germany) with JET-X optics is 24 arcsec. XIPE takes advantage of a low-earth equatorial orbit with Malindi as down-link station and of a Mission Operation Center (MOC) at INPE (Brazil).Comment: 49 pages, 14 figures, 6 tables. Paper published in Experimental Astronomy http://link.springer.com/journal/1068

Rechallenge to carboplatin in children with low grade glioma and carboplatin hypersensitivity reactions

Background: Carboplatin based regimens have demonstrated activity in pediatric patients with low grade gliomas (LGG). However, carboplatin hypersensitivity reactions (CHRs) may be a major problem leading to premature cessation of an effective therapy. The objectives of this study were to describe the prevalence, characteristics and management of CHR. Methods: We performed a retrospective review of children with LGG treated between January 1994 and July 2015 with carboplatin and vincristine who had a documented CHR. We identified two groups: the first was treated following the schema proposed by Packer et al., and re-exposed to carboplatin using a desensitization protocol; the second was treated according to protocol SIOP LGG 2004 and re-exposed with the infusion time prolonged. Results: CHRs were observed in 16 patients (34%) out of 47. Hypersensitivity reactions occurred in 6 patients (20.7%) of the first, and 10 patients (55.5%) of the second group, respectively. The grade 2 reactions were the most common. The median number of carboplatin doses administered at the first episode of CHR was 7 (range, 3-9) for the first group, and 8.5 (range, 5-11) for the second, respectively. Six patients were re-exposed to carboplatin using a desensitization protocol; 10 with a prolonged infusion time. Overall success rate for re-exposition was 43.75% (100% and 10%, respectively) (P = 0.001). Conclusions: Our results show that re-exposure is a safe alternative to abandoning carboplatin. Desensitization showed greater effectiveness compared to a prolonged infusion time, which allowed the patients to receive effective treatment without adverse reactions

The Imaging X-ray Polarimetry Explorer (IXPE): Technical Overview

The Imaging X-ray Polarimetry Explorer (IXPE) will expand the information space for study of cosmic sources, by adding linear polarization to the properties (time, energy, and position) observed in x-ray astronomy. Selected in 2017 January as a NASA Astrophysics Small Explorer (SMEX) mission, IXPE will be launched into an equatorial orbit in 2021. The IXPE mission will provide scientifically meaningful measurements of the x-ray polarization of a few dozen sources in the 2-8 keV band, including polarization maps of several x-ray-bright extended sources and phase-resolved polarimetry of many bright pulsating x-ray sources

Conservative and surgical treatment of chronic anal fissure: prospective longer term results.

INTRODUCTION: The aim of this prospective study was to assess the efficacy of different medical treatments and surgery in the treatment of chronic anal fissure (CAF). PATIENTS AND METHODS: From January 2004 to March 2009, 311 patients with typical CAF completed the study. All patients were initially treated with 0.2% nitroglycerin ointment (GTN) or anal dilators (DIL) for 8 weeks. If no improvement was observed after 8 weeks, the patients were assigned to the other treatment or a combination of the two. Persisting symptoms after 12 weeks or recurrence were indications for either botulinum toxin injection into the internal sphincter and fissurectomy or lateral internal sphincterotomy (LIS). During the follow-up (29 +/- 16 months), healing rates, symptoms, incontinence scores, and therapy adverse effects were prospectively recorded. RESULTS: Overall healing rates were 64.6% and 94% after GTN/DIL or BTX/LIS. Healing rate after GTN or DIL after 12 weeks course were 54.5% and 61.5%, respectively. Fifty-four patients (17.4%) responded to further medical therapy. One hundred two patients (32.8%) underwent BTX or LIS. Healing rate after BTX was 83.3% and overall healing after LIS group was 98.7% with no definitive incontinence. CONCLUSION: In conclusion, although LIS is far more effective than medical treatments, BTX injection/fissurectomy as first line treatment may significantly increase the healing rate while avoiding any risk of incontinenc

Management of Children with Optic Gliomas and Neurofibromatosis Type 1

Optic pathway gliomas (OPG) are a common cancer in children with neurofibromatosis type 1.OPGs can cause clinical symptoms such as reduction of visual acuity, alterations of the visual field, pallor of the optical papilla, strabismus, endocrinological alterations up to diencephalic syndrome.The current guidelines provide for wait and see as the main approach if the tumor is not causing visual deterioration and adapting treatment only in the event of significant impairment of the visual function. Therefore, it is essential to early detect the visual deterioration changes as well as the identification of children eligible for treatment. © 2020 This is an Open Access article licensed under a Creative Commons license: Attribution 4.0 International (CC-BY)