Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

BACKGROUND/AIM: Isolated methylmalonic acidemia is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 or mut? enzymatic subtype), a defect of its cofactor adenosyl-cobalamin (cblA, cblB, or cblD-MMA) or deficiency of the enzyme methylmalonyl-CoA epimerase. While onset of the disease ranges from the neonatal period to adulthood, most cases present with lethargy, vomiting and ketoacidosis in the early infancy. Major secondary complications are; growth failure, developmental delay, interstitial nephritis with progressive renal failure, basal ganglia injury and cardiomyopathy. We aimed to demonstrate clinical and molecular findings based on long-term follow up in our patient cohort. MATERIALS AND METHODS: The study includes 37 Turkish patients with isolated MMA who were followed up for long term complications 1 to 14 years. All patients were followed up regularly with clinical, biochemical and dietary monitoring to determine long term complications. Next Generation Sequencing technique was used for mutation screening in five disease-causing genes including; MUT, MMAA, MMAB, MMADHC, MCEE genes. Mutation screening identified 30 different types of mutations. RESULTS: While 28 of these mutations were previously reported, one novel MMAA mutation p.H382Pfs*24 (c.1145delA) and one novel MUT mutation IVS3+1G>T(c.752+1G>T) has been reported. The most common clinical complications were growth retardation, renal involvement, mental motor retardation and developmental delay. Furthermore, one of our patients developed cardiomyopathy, another one died because of hepatic failure and one presented with lactic acidosis after linezolid exposure. CONCLUSIONS: We have detected two novel mutations, including one splice-site mutation in the MUT gene and one frame shift mutation in the MMAA gene in 37 Turkish patients. We confirm the genotype-phenotype correlation in the study population according to the long term complications

2D recurrent neural networks for robust visual tracking of non-rigid bodies

© Springer International Publishing Switzerland 2016. The efficient tracking of articulated bodies over time is an essential element of pattern recognition and dynamic scenes analysis. This paper proposes a novel method for robust visual tracking, based on the combination of image-based prediction and weighted correlation. Starting from an initial guess, neural computation is applied to predict the position of the target in each video frame. Normalized cross-correlation is then applied to refine the predicted target position. Image-based prediction relies on a novel architecture, derived from the Elman’s Recurrent Neural Networks and adopting nearest neighborhood connections between the input and context layers in order to store the temporal information content of the video. The proposed architecture, named 2D Recurrent Neural Network, ensures both a limited complexity and a very fast learning stage. At the same time, it guarantees fast execution times and excellent accuracy for the considered tracking task. The effectiveness of the proposed approach is demonstrated on a very challenging set of dynamic image sequences, extracted from the final of triple jump at the London 2012 Summer Olympics. The system shows remarkable performance in all considered cases, characterized by changing background and a large variety of articulated motions

A desensitization method to maintain enzyme replacement therapy in mucopolysaccharidosis type VI

PubMedID: 27164636[No abstract available

2D recurrent neural networks: a high-performance tool for robust visual tracking in dynamic scenes

This paper proposes a novel method for robust visual tracking of arbitrary objects, based on the combination of image-based prediction and position refinement by weighted correlation. The effectiveness of the proposed approach is demonstrated on a challenging set of dynamic video sequences, extracted from the final of triple jump at the London 2012 Summer Olympics. A comparison is made against five baseline tracking systems. The novel system shows remarkable superior performances with respect to the other methods, in all considered cases characterized by changing background, and a large variety of articulated motions. The novel architecture, from here onward named 2D Recurrent Neural Network (2D-RNN), is derived from the well-known recurrent neural network model and adopts nearest neighborhood connections between the input and context layers in order to store the temporal information content of the video. Starting from the selection of the object of interest in the first frame, neural computation is applied to predict the position of the target in each video frame. Normalized cross-correlation is then applied to refine the predicted target position. 2D-RNN ensures limited complexity, great adaptability and a very fast learning time. At the same time, it shows on the considered dataset fast execution times and very good accuracy, making this approach an excellent candidate for automated analysis of complex video streams

The prevalence of microalbuminuria and relevant cardiovascular risk factors in Turkish hypertensive patients

Objectives: A growing body of data illustrates the importance of microalbuminuria (MAU) as a strong predictor of cardiovascular risk in the hypertensive population. The present study was designed to define the prevalence of MAU and associated cardiovascular risk factors among Turkish hypertensive outpatients. Study design: Representing the Turkish arm of the multinational i-SEARCH study involving 1,750 sites in 26 countries around the world, a total of 1,926 hypertensive patients from different centers were included in this observational and cross-sectional survey study. Patients with reasons for a false-positive MAU test were excluded. The prevalence of MAU was assessed using a dipstick test, and patients were inquired about comorbidities, comedication, and known cardiovascular risk factors. Results: The overall prevalence of MAU was 64.7% and there was no difference between genders. Most of the patients (82.5%) had uncontrolled hypertension, 35.6% had dyslipidemia, and 35.5% had diabetes, predominantly type 2. Almost one-third of the patients (26.4%) had at least one cardiovascular-related comorbidity, with 20.3% having documented coronary artery disease (CAD). Almost all patients (96.8%) had one or more risk factors for cardiovascular disease in addition to hypertension, including family history of myocardial infarction or CAD, diabetes, dyslipidemia, lack of physical exercise, and smoking. A trend towards higher MAU values in the presence of CAD was determined. Conclusion: Microalbuminuria tests should be routinely used as a screening and monitoring tool for the assessment of subsequent cardiovascular morbidity and mortality among hypertensive patients. © 2011 Turkish Society of Cardiology