patients with MS were APL. This provides a cumulative incidence higher than currently expected (reported incidences between 0.07% 4 and 0.80% 6 when considering only series of more than 100 patients with MS). The complete references of reported cases of t-AL in patients with MS treated with MTZ are provided in the e-references on the Neurology ® Web site at www.neurology.org.Considering the MTZ regimen administrated, there was no relation between the treatment scheme and the occurrence of t-AL. There was no t-AL in the low-dose regimen, which was used in special cases to enable tolerance, but the low number of patients in that regimen does not enable us to draw significant conclusions. Nowadays, the real risk of t-AL is not known, as the total number of patients with MS who have received MTZ is unknown and leukemia cases might be underreported. The results of this prospective observational study stress the necessity of re-evaluating this risk.

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The quantity of mesenchymal stem/stromal cells (MSCs) required for a particular therapy demands their subsequent expansion through ex vivo culture. During in vitro multiplication, they undergo replicative senescence which may alter their genetic stability. Therefore, this study was aimed to analyze cellular, molecular, and chromosomal alterations in Wharton’s jelly-derived MSCs (WJ-MSCs) during their in vitro sequential passages, where WJ-MSCs were sequentially passaged up to P14 and cells were evaluated at an interval of P2, P6, P10, and P14. They were examined for their morphology, tumorigenicity, surface markers, stemness markers, DNA damage, chromosomal aberration, and telomere length. We have processed five full-term delivered human umbilical cord samples to obtain WJ-MSCs. Morphological appearance observed at initial stages was small fine spindle-shaped WJ-MSCs which were transformed to flat, long, and broader cells in later passages. The cell proliferation rate was gradually decreased after the 10th passage. WJ-MSCs have expressed stemness markers OCT-4 and NANOG, while they showed high expression of positive surface markers CD90 and CD105 and lower expression of CD34 and CD45. They were non-tumorigenic with slow cellular aging during subsequent passages. There was no chromosomal abnormality up to the 14th passage, while increase in comet score and decrease in telomere length were observed in later passages. Hence, our study suggests that early and middle passaged (less than P10) WJ-MSCs are good candidates for clinical administration for treatment.

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BackgroundRetinoschisis and retinal detachment are distinguished based on features in clinical examination. Even to skilled examiners, some cases may be diagnostic challenges. Infrared and wide-angle infrared reflectance imaging are relatively new modalities that can provide additional diagnostic information. Non-contact infrared reflectance imaging (also described as near-infrared imaging) highlights sub-retinal features which may otherwise be obscured by standard retinal photography. It is non-invasive and uses the retina’s ability to absorb, reflect or scatter infrared light to produce high quality images.Main bodyThe aim of this review is to describe the role of wide-field infrared imaging in screening, diagnosing, and monitoring structural peripheral retinal disorders including retinoschisis, retinal detachment or combined retinoschisis rhegmatogenous detachments. Infrared imaging can also be used to monitor anterior segment inflammation. Heidelberg Wide-Field Module lens and Heidelberg Spectralis® HRA + OCT machine (Heidelberg Engineering, Heidelberg, Germany) were used to obtain noncontact, wide-field infrared images on each study eye. Pseudocolor photos were captured by Optos Optomap® (Optos, Inc, Massachusetts, USA).ConclusionWide angle infrared imaging offers a quick, noncontact, and noninvasive way to help specialists accurately diagnose, monitor for progression, and educate patients about retinal detachment, retinoschisis and even anterior segment inflammation.

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Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is a rare clinical presentation and appropriate diagnosis of ID is challenging through clinical examination. We report an Indian family with a rare co-inheritance of OCA1B and ID due to a novel TYR gene variant and chromosomal copy number variations. Methods We have done a study on three siblings (2 males and 1 female) of a family where all of them presented with hypopigmented skin, hair and eyes. The male children and their father was affected with ID. Targeted exome sequencing and multiplex ligation-dependent probe amplification analysis were carried out to identify the OCA1B and ID associated genomic changes. Further Array-CGH was performed using SurePrint G3 Human CGH + SNP, 8*60 K array. Results A rare homozygous deletion of exon 3 in TYR gene causing OCA1B was identified in all three children. The parents were found to be heterozygous carriers. The Array-CGH analysis revealed paternally inherited heterozygous deletion(1.9 MB) of 15q11.1-> 15q11.2 region in all three children. Additionally, paternally inherited heterozygous deletion(2.6 MB)of 10q23.2-> 10q23.31 region was identified in the first male child; this may be associated with ID as the father and the child both presented with ID. While the 2nd male child had a denovo duplication of 13q31.1-> 13q31.3 chromosomal region. Conclusion A rare homozygous TYR gene exon 3 deletion in the present study is the cause of OCA1B in all three children, and the additional copy number variations are associated with the ID. The study highlights the importance of combinational genetic approaches for diagnosing two different co-inherited disorders (OCA and ID). Hence, OCA cases with additional clinical presentation need to be studied in-depth forthe appropriate management of the disease.