Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation

The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases. The t(7;12)(q36;p13) is a cryptic rearrangement that is difficult to recognise using conventional cytogenetic methods and is often undetected by reverse transcription polymerase chain reaction due to the absence of a fusion transcript in many cases. Here we present a reliable and easy to use dual colour fluorescence in situ hybridisation assay for the detection of the t(7;12)(q36;p13) rearrangement. A comparison with previous similar work is given and advantages and limitations of this novel approach are discussed

HLXB9 gene expression, and nuclear location during in vitro neuronal differentiation in the SK-N-BE neuroblastoma cell line

Copyright @ 2014 Leotta et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Different parts of the genome occupy specific compartments of the cell nucleus based on the gene content and the transcriptional activity. An example of this is the altered nuclear positioning of the HLXB9 gene in leukaemia cells observed in association with its over-expression. This phenomenon was attributed to the presence of a chromosomal translocation with breakpoint proximal to the HLXB9 gene. Before becoming an interesting gene in cancer biology, HLXB9 was studied as a developmental gene. This homeobox gene is also known as MNX1 (motor neuron and pancreas homeobox 1) and it is relevant for both motor neuronal and pancreatic beta cells development. A spectrum of mutations in this gene are causative of sacral agenesis and more broadly, of what is known as the Currarino Syndrome, a constitutional autosomal dominant disorder. Experimental work on animal models has shown that HLXB9 has an essential role in motor neuronal differentiation. Here we present data to show that, upon treatment with retinoic acid, the HLXB9 gene becomes over-expressed during the early stages of neuronal differentiation and that this corresponds to a reposition of the gene in the nucleus. More precisely, we used the SK-N-BE human neuroblastoma cell line as an in vitro model and we demonstrated a transient transcription of HLXB9 at the 4th and 5th days of differentiation that corresponded to the presence, predominantly in the cell nuclei, of the encoded protein HB9. The nuclear positioning of the HLXB9 gene was monitored at different stages: a peripheral location was noted in the proliferating cells whereas a more internal position was noted during differentiation, that is while HLXB9 was transcriptionally active. Our findings suggest that HLXB9 can be considered a marker of early neuronal differentiation, possibly involving chromatin remodeling pathways

Ectopic expression of the HLXB9 gene is associated with an altered nuclear position in t(7;12) leukaemias

This article is available open access through the publisher’s website at the link below. Copyright @ 2009 Macmillan Publishers Ltd.No abstract available (Letter to the editor).The Leukaemia Research Fun

Excel spectroscopic tools to visualize, analyze and manipulate remotely sensed data of planetary bodies. This work has been developed under the ASI-INAF agreement n. 2023-6-HH.0.

This manual describes how to use an interactive Excel tool that provides a quick and easy way to visualize and manipulate laboratory spectroscopic data

Jiram standard product data record and archive volume software interface specification

This software interface specification (SIS) describes the format and content of the JIRAM Planetary Data System (PDS) data archive. It includes descriptions of the Standard Data Products and associated metadata, and the volume archive format, content, and generation pipeline

Space Weather in the Saturn System

We analyze the effect of space weather acting on the Saturn satellites Mimas, Enceladus, Tethys, Dione, and Rhea from the spectroscopic point of view. We will show results from the analysis of spectra returned by VIMS instrument onboard Cassini

The Controversial Role of TGF-β in Neovascular Age-Related Macular Degeneration Pathogenesis.

The multifunctional transforming growth factors-beta (TGF-βs) have been extensively studied regarding their role in the pathogenesis of neovascular age-related macular degeneration (nAMD), a major cause of severe visual loss in the elderly in developed countries. Despite this, their effect remains somewhat controversial. Indeed, both pro- and antiangiogenic activities have been suggested for TGF-β signaling in the development and progression of nAMD, and opposite therapies have been proposed targeting the inhibition or activation of the TGF-β pathway. The present article summarizes the current literature linking TGF-β and nAMD, and reviews experimental data supporting both pro- and antiangiogenic hypotheses, taking into account the limitations of the experimental approaches

Common peroneal nerve injuries at the knee: outcomes of nerve repair

Background. Common peroneal nerve (CPn) lesion at the knee is one of the most frequent neurologic injury of the lower limb. Among the etiologies there are also open and closed trauma. If direct nerve repair is not possible, nerve grafting is indicated as a primary or delayed procedure. Nerve and tendon transfer are other possible therapeutic options. Material and methods. In this retrospective double center study, 35 patients with post-traumatic CPn lesion at the knee, that underwent surgical repair, were analyzed. Exclusion criteria were severe concomitant neurological pathologies, complex injury of the lower leg including major vessels lesion and or tibial nerve injury. The objective of the study is to demonstrate the degree of foot dorsiflexion recovery based on the type of trauma and the corresponding performed surgery: the Medical Research Council classification (M0-M5) was used as rating scale. Results. There were 23 closed and 12 open injuries. Time of surgery varied from 6 to 11 months after closed trauma, whereas 2 open traumas were explored at emergency and the remaining 10 patients were explored 3 to 9 months after injury. Neurolysis was performed in 12 cases. Neurorraphy was performed in 2 cases. Sural nerve grafting was performed in 21 patients, with a length range of 6-10,5 cm and 4-9 cm for closed and open trauma respectively. Conclusions. Our series confirms that repairs of traumatic CPn injuries have an unfavorable outcome. Motor recovery score ≥ M3 was obtained in only 10 cases (28,57%). Neurolysis and nerve suture show better results than nerve graft alone, although no statistically significant differences emerged; CPn reconstructions with grafts show unsatisfactory results, particularly if the length of the grafts exceeds 6 cm and when patients are treated over 6 months after the trauma. Patients with closed trauma achieve less satisfactory results than those with open injury (13 vs 58%) and this was statistically significant (p < 0.05), so palliative surgery may be indicated as the first surgical approach for these patients to achieve good foot dorsiflexion