Evaluation of new designed reference blocks for calibration and NDT by optical and ultrasonic techniques

Reference blocks are required for ultrasonic calibration and non-destructive testing (NDT). There are already in existence sets of reference blocks constructed according to American Society for Testing and Materials standards, but as the industry evolves, we need more reference blocks with varied designs. In this study, two reference blocks of steel and aluminum are constructed. These blocks have several sets of flat bottom holes (FBH) with different diameters (0.5, 1, 1.5, 2 and 2.5 mm), angles (45° and 90°) and placements. The novel constructed reference blocks are evaluated using the ultrasonic and a displacement measuring interferometer (DMI). They allow for detailed FBH characterization in terms of defining their location, diameter, depth and so on. The two techniques show consistency in the majority of the outcomes. The expanded uncertainty of readings is found to be ±1.4 μm, according to DMI data. The findings show that the newly constructed blocks could be ideal for evaluating a variety of calibration factors including transducer sensitivity, dead zone, defect size, and depth. Furthermore, they can be used in NDT in various industries such as petroleum pipe production, steel manufacturing and so on

A NEW SYNDROME OF AUTOSOMAL RECESSIVE NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM

A consanguineous Pakistani family is described in which family members developed renal failure without haematuria, parathyroid hyperplasia, and sensorineural deafness. We believe the condition to be inherited as an autosomal recessive and to be distinct from Alport's syndrome, which is an X linked condition usually associated with haematuria

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic testing. Here, we describe biallelic mutations in TOP3A in ten individuals with prenatalonset growth restriction and microcephaly. TOP3A encodes topoisomerase III alpha (TopIIIa), which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination. We also identify a homozygous truncating variant in RMI1, which encodes another component of the BTRR complex, in two individuals with microcephalic dwarfism. The TOP3A mutations substantially reduce cellular levels of TopIIIa, and consequently subjects' cells demonstrate elevated rates of SCE. Unresolved DNA recombination and/or replication intermediates persist into mitosis, leading to chromosome segregation defects and genome instability that most likely explain the growth restriction seen in these subjects and in Bloom syndrome. Clinical features of mitochondrial dysfunction are evident in several individuals with biallelic TOP3A mutations, consistent with the recently reported additional function of TopIIIa in mitochondrial DNA decatenation. In summary, our findings establish TOP3A mutations as an additional cause of prenatal-onset short stature with increased cytogenetic SCEs and implicate the decatenation activity of the BTRR complex in their pathogenesis