Double Heterozygous Mutations Involving Both HNF1A/MODY3 and HNF4A/MODY1 Genes: A case report

none9Abstract We describe the first MODY case with mutations involving both HNF4A and HNF1A genes. History and Examination. A male patient was diagnosed with diabetes at age 17; the metabolic control rapidly worsened to insulin requirement. At that time no relatives were known to be affected by diabetes, which was diagnosed years later in both parents (father at age 50, mother at age 54) and the sister (age 32 during pregnancy). Investigations. The genetic screening showed a double heterozygosity for the mutation p.E508K in HNF1A/MODY3 gene and the novel variant p.R80Q in HNF4A/MODY1 gene. The genetic testing of the family showed that the father carried the MODY3 mutation while the mother, the sister and her two children carried the MODY1 mutation. Conclusions. MODY1 and MODY3 mutations may interact by chance to give a more severe form of diabetes (younger age at presentation, early need of insulin therapy to control hyperglycemia).mixedG. Forlani; S. Zucchini; A. Di Rocco; R. Di Luzio; M. Scipione; E. Marasco; G. Romeo; G. Marchesini Reggiani; V. MantovaniG. Forlani; S. Zucchini; A. Di Rocco; R. Di Luzio; M. Scipione; E. Marasco; G. Romeo; G. Marchesini Reggiani; V. Mantovan

Role of high tibial osteotomy in chronic injuries of posterior cruciate ligament and posterolateral corner

High tibial osteotomy (HTO) is a surgical procedure used to change the mechanical weight-bearing axis and alter the loads carried through the knee. Conventional indications for HTO are medial compartment osteoarthritis and varus malalignment of the knee causing pain and dysfunction. Traditionally, knee instability associated with varus thrust has been considered a contraindication. However, today the indications include patients with chronic ligament deficiencies and malalignment, because an HTO procedure can change not only the coronal but also the sagittal plane of the knee. The sagittal plane has generally been ignored in HTO literature, but its modification has a significant impact on biomechanics and joint stability. Indeed, decreased posterior tibial slope causes posterior tibia translation and helps the anterior cruciate ligament (ACL)-deficient knee. Vice versa, increased tibial slope causes anterior tibia translation and helps the posterior cruciate ligament (PCL)-deficient knee. A review of literature shows that soft tissue procedures alone are often unsatisfactory for chronic posterior instability if alignment is not corrected. Since limb alignment is the most important factor to consider in lower limb reconstructive surgery, diagnosis and treatment of limb malalignment should not be ignored in management of chronic ligamentous instabilities. This paper reviews the effects of chronic posterior instability and tibial slope alteration on knee and soft tissues, in addition to planning and surgical technique for chronic posterior and posterolateral instability with HTO

Global variations in diabetes mellitus based on fasting glucose and haemogloblin A1c

Fasting plasma glucose (FPG) and haemoglobin A1c (HbA1c) are both used to diagnose diabetes, but may identify different people as having diabetes. We used data from 117 population-based studies and quantified, in different world regions, the prevalence of diagnosed diabetes, and whether those who were previously undiagnosed and detected as having diabetes in survey screening had elevated FPG, HbA1c, or both. We developed prediction equations for estimating the probability that a person without previously diagnosed diabetes, and at a specific level of FPG, had elevated HbA1c, and vice versa. The age-standardised proportion of diabetes that was previously undiagnosed, and detected in survey screening, ranged from 30% in the high-income western region to 66% in south Asia. Among those with screen-detected diabetes with either test, the agestandardised proportion who had elevated levels of both FPG and HbA1c was 29-39% across regions; the remainder had discordant elevation of FPG or HbA1c. In most low- and middle-income regions, isolated elevated HbA1c more common than isolated elevated FPG. In these regions, the use of FPG alone may delay diabetes diagnosis and underestimate diabetes prevalence. Our prediction equations help allocate finite resources for measuring HbA1c to reduce the global gap in diabetes diagnosis and surveillance.peer-reviewe

Design of antimicrobial peptides based on sequence analogy and amphipathicity

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Slippage detection with piezoresistive tactile sensors

One of the crucial actions to be performed during a grasping task is to avoid slippage. The human hand can rapidly correct applied forces and prevent a grasped object from falling, thanks to its advanced tactile sensing. The same capability is hard to reproduce in artificial systems, such as robotic or prosthetic hands, where sensory motor coordination for force and slippage control is very limited. In this paper, a novel algorithm for slippage detection is presented. Based on fast, easy-to-perform processing, the proposed algorithm generates an ON/OFF signal relating to the presence/absence of slippage. The method can be applied either on the raw output of a force sensor or to its calibrated force signal, and yields comparable results if applied to both normal or tangential components. A biomimetic fingertip that integrates piezoresistive MEMS sensors was employed for evaluating the method performance. Each sensor had four units, thus providing 16 mono-axial signals for the analysis. A mechatronic platform was used to produce relative movement between the finger and the test surfaces (tactile stimuli). Three surfaces with submillimetric periods were adopted for the method evaluation, and 10 experimental trials were performed per each surface. Results are illustrated in terms of slippage events detection and of latency between the slippage itself and its onset

Identification of slippage on naturalistic surfaces via Wavelet Transform of tactile signals

The effort towards replicating human skills into artificial systems is growing constantly. While artificial vision has reached a certain reliability, the sense of touch is still hard to introduce into robotic devices. Human manipulation comprises a sequence of static and dynamic actions, which may include unforeseen events such as variation of object position, movement of the fingers, and modification of the object dimensions and shape (e.g. with soft objects) due to inappropriate force levels. These circumstances are likely to produce the slippage of the object being manipulated. Artificial manipulators are not yet able to be effective in dynamic environments. This paper intends to provide a method for the identification and prevention of slippage with tactile sensors. The method is based on filtering the tactile signals to extract slippage information. The filtering has been executed by means of the Stationary Wavelet Transform (SWT), that consists of recursive filtering operations. Then, the transformed signal has been rectified and its Root Mean Square (RMS) has been computed. Finally, an ON/OFF signal has been generated according to a threshold logic. Eight natural surfaces, featuring diverse tactile properties, have been used with the aim of validating the ability of the method to be applied regardless the surface properties. To evaluate repeatability and generalization ability, a total of 2000 experiments has been performed, 250 per each stimulus, with a mechatronic platform: five velocities combined with five indentation force levels, repeating each combination ten times. Results are provided in terms of true positive detection and of delay between onset of slippage and algorithm output