The volumetric flow rate (VFR) waveform over the cardiac cycle in the cerebral vasculature is a significant factor in many studies, which involve cerebrovascular function. Perhaps contrary to expectation, the literature in this area is sparse and the characteristics of blood flow waveforms are ill defined. A better understanding of the variation of blood flow rate and pulsatility may aid our knowledge of risk factors involved in diseases and conditions, such as stroke, arteriovenous malformation, or aneurysm rupture. This study sought to characterise the blood flow waveform over the cardiac cycle at levels within the carotid artery and basilar artery (BA) in a normal cohort. The study cohort consisted of 22 subjects (recruitment age: 20 to 40 years) with no history of vascular disease (median age=26 years, interquartile range=25 to 32 years). Two-dimensional quantitative phase-contrast magnetic resonance imaging was performed on each subject at nine anatomic locations within the carotid artery and BA. Significant differences in pulsatility were present within the carotid tree. Archetypal VFR waveforms were established for this group at the nine locations. A normal individual's VFR waveform at a location within the carotid tree can be estimated by taking the group's archetypal waveform for that location, and scaling by the individual's average flow rate.

Lysosomal storage disorders constitute an important group of genetic metabolic disorders for many of which therapeutic options are now available.

Background: Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes. There is no primary investigational strategy for PAP cases with single gene disorder in literature. PAP cases with single gene disorder can be classified according to common pathways and molecular basis. Molecular classification may help in diagnostic approach.Materials and Methods: All single gene disorders associated with PAP reported on PubMed and OMIM are analyzed and classified according to molecular basis.Results: Majority of genes related to cilia structure and functions are associated with PAP, so we classified them as ciliopathies and non-ciliopathies groups. Genes related to Shh–Gli3 pathway was the commonest group in non-ciliopathies.Conclusion: Genes related to cilia are most commonly related to PAP due to their indirect relationship to Shh–Gli3 signaling pathway. Initially, PAP may be the only clinical finding with ciliopathies so those cases need follow up. Proper diagnosis is helpful for management and genetic counseling. Molecular approach may help to define pleiotropy.

A simplified two-dimensional finite element model which simulates the in-air reverberation image produced by medical ultrasonic transducers has been developed. The model simulates a linear array consisting of 128 PZT-5A crystals, a tungsten-epoxy backing layer, an Araldite matching layer, and a Perspex lens layer. The thickness of the crystal layer is chosen to simulate pulses centered at 4 MHz. The model is used to investigate whether changes in the electromechanical properties of the individual transducer layers (backing layer, crystal layer, matching layer, and lens layer) have an effect on the simulated in-air reverberation image generated. Changes in the electromechanical properties are designed to simulate typical medical transducer faults such as crystal drop-out, lens delamination, and deterioration in piezoelectric efficiency. The simulations demonstrate that fault-related changes in transducer behaviour can be observed in the simulated in-air reverberation image pattern. This exploratory approach may help to provide insight into deterioration in transducer performance and help with early detection of faults.