23 research outputs found

    Genetic causes of hypercalciuric nephrolithiasis

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    Renal stone disease (nephrolithiasis) affects 3–5% of the population and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in over 35% of patients and may occur as a monogenic disorder that is more likely to manifest itself in childhood. Studies of these monogenic forms of hypercalciuric nephrolithiasis in humans, e.g. Bartter syndrome, Dent’s disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium. Thus, Bartter syndrome, an autosomal disease, is caused by mutations of the bumetanide-sensitive Na–K–Cl (NKCC2) co-transporter, the renal outer-medullary potassium (ROMK) channel, the voltage-gated chloride channel, CLC-Kb, the CLC-Kb beta subunit, barttin, or the calcium-sensing receptor (CaSR). Dent’s disease, an X-linked disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is due to mutations of the chloride/proton antiporter 5, CLC-5; ADHH is associated with activating mutations of the CaSR, which is a G-protein-coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium–phosphate co-transporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin-1, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia. These studies have provided valuable insights into the renal tubular pathways that regulate calcium reabsorption and predispose to hypercalciuria and nephrolithiasis

    Human-Machine Interface for the Control of Multi-Function Systems Based on Electrocutaneous Menu: Application to Multi-Grasp Prosthetic Hands.

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    Modern assistive devices are very sophisticated systems with multiple degrees of freedom. However, an effective and user-friendly control of these systems is still an open problem since conventional human-machine interfaces (HMI) cannot easily accommodate the system's complexity. In HMIs, the user is responsible for generating unique patterns of command signals directly triggering the device functions. This approach can be difficult to implement when there are many functions (necessitating many command patterns) and/or the user has a considerable impairment (limited number of available signal sources). In this study, we propose a novel concept for a general-purpose HMI where the controller and the user communicate bidirectionally to select the desired function. The system first presents possible choices to the user via electro-tactile stimulation; the user then acknowledges the desired choice by generating a single command signal. Therefore, the proposed approach simplifies the user communication interface (one signal to generate), decoding (one signal to recognize), and allows selecting from a number of options. To demonstrate the new concept the method was used in one particular application, namely, to implement the control of all the relevant functions in a state of the art commercial prosthetic hand without using any myoelectric channels. We performed experiments in healthy subjects and with one amputee to test the feasibility of the novel approach. The results showed that the performance of the novel HMI concept was comparable or, for some outcome measures, better than the classic myoelectric interfaces. The presented approach has a general applicability and the obtained results point out that it could be used to operate various assistive systems (e.g., prosthesis vs. wheelchair), or it could be integrated into other control schemes (e.g., myoelectric control, brain-machine interfaces) in order to improve the usability of existing low-bandwidth HMIs.Open-Access-Publikationsfonds 2015peerReviewe
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