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BackgroundGermline pathogenic variants in DICER1cause DICER1 syndrome, an autosomal dominant, pleiotropic tumour predisposition syndrome with variable expressivity and reduced penetrance for specific dysplastic and neoplastic lesions. Recently, a syndrome with the acronym GLOW (Global developmental delay, Lung cysts, Overgrowth, Wilms tumour) was described in two children with mosaic missense mutations in hotspot residues of the DICER1 RNase IIIb domain.MethodsWhole genome sequencing, exome sequencing, Sanger sequencing, digital PCR and a review of Wilms tumours with DICER1RNase III domain mutations were performed.ResultsA de novo heterozygous c.4031C>T (p.S1344L) variant in the sequence encoding the RNase IIIa domain of DICER1was detected. Clinical investigations revealed a phenotype that resembles the GLOW subphenotype of DICER1 syndrome.ConclusionThe phenotypic overlap between patients with p.S1344L mutation and GLOW syndrome provide clinical support for recent discoveries that RNase IIIa-Ser1344 site mutations impede miRNA-5p biogenesis analogous to DICER1hotspot mutations in the RNase IIIb domain. We show that an individual with a heterozygous germline p.S1344L mutation has a severe form of DICER1 syndrome (‘DICER1 syndrome plus’), with notable features of intellectual disability, macrocephaly, physical abnormalities, Wilms tumour and a well-differentiated fetal adenocarcinoma of the lung.

In this study, it will be investigated the diffusion of critical elements, namely, carbon (C) and iron (Fe), into a steel substrate (Impax Supreme) during the diamond chemical vapour deposition (CVD) process. The substrate temperature was varied from 700 to 850ºC by plasma power manipulations to enable the correlation of substrate temperature with diffusion length and depth of the above mentioned critical elements into steel during film growth conditions. Methane concentration is also a parameter which has been considered during the parametric analysis. The crystalline compounds formed during the diamond growth process are studied using XRD analysis. In addition, SIMS technique is used with depth profiling to monitor the diffusion of elements during the process. The results obtained enabled to improve traditional understanding about the mechanisms relating to diamond deposition on steel substrates using CVD processes.

The radiological incidence of calcaneal spurs in a black African population was studied. Our findings show that spur incidence increased with age and was greater in females than in males. These results, the first from a large, exclusively African population, are similar to those from previous studies of individuals from other continents.