Machine Learning Approaches and Web-Based System to the Application of Disease Modifying Therapy for Sickle Cell

Sickle cell disease (SCD) is a common serious genetic disease, which has a severe impact due to red blood cell (RBCs) abnormality. According to the World Health Organisation, 7 million newborn babies each year suffer either from the congenital anomaly or from an inherited disease, primarily from thalassemia and sickle cell disease. In the case of SCD, recent research has shown the beneficial effects of a drug called hydroxyurea/hydroxycarbamide in modifying the disease phenotype. The clinical management of this disease-modifying therapy is difficult and time consuming for clinical staff. This includes finding an optimal classifier that can help to solve the issues with missing values, multi-class datasets, and features selection. For the classification and discriminant analysis of SCD datasets, 7 classifiers based on machine learning models are selected representing linear and non-linear methods. After running these classifiers with a single model, the results revealed that a single classifier has provided us with effective outcomes in terms of the classification performance evaluation metric. In order to produce such an optimal outcome, this research proposed and designed combined classifiers (ensemble classifiers) among the neural network’s models, the random forest classifier, and the K-nearest neighbour classifier. In this aspect, combining the levenberg-marquardt algorithm, the voted perceptron classifier, the radial basis neural classifier, and random forest classifier obtain the highest rate of performance and accuracy. This ensemble classifier receives better results during the training set and testing set process. Recent technology advances based on smart devices have improved the medical facilities and become increasingly popular in association with real-time health monitoring and remote/personal health-care. The web-based system developed under the supervision of the haematology specialist at the Alder Hey Children’s Hospital in order to produce such an effective and useful system for both patients and clinicians. To sum up, the simulation experiment concludes that using machine learning and the web-based system platforms represents an alternative procedure that could assist healthcare professionals, particularly for the specialist nurse and junior doctor to improve the quality of care with sickle cell disorder

Mitochondial parts, pathways, and pathogenesis

Thesis (Ph. D.)--Harvard-MIT Division of Health Sciences and Technology, 2009.Cataloged from PDF version of thesis.Includes bibliographical references.In title on title page, the word "Mitochondrial" is spelled "Mitochondial."Mitochondria are cellular compartments that perform essential roles in energy metabolism, ion homeostasis, and apoptosis. Mitochondrial dysfunction causes disease in 1 in 5,000 live births and also has been associated with aging, neurodegeneration, cancer, and diabetes. To systematically explore the function of mitochondria in health and in disease, it is necessary to identify all of the proteins resident in this organelle and to understand how they integrate into pathways. However, traditional molecular and biochemistry methods have identified only half of the estimated 1200 mitochondrial proteins, including the 13 encoded by the tiny mitochondrial genome. Now, newly available genomic technologies make it possible to identify the remainder and explore their roles in cellular pathways and disease. Toward this goal, we performed mass spectrometry, GFP tagging, and machine learning on multiple genomic datasets to create a mitochondrial compendium of 1098 genes and their protein expression across 14 mouse tissues. We linked poorly characterized proteins in this inventory to known mitochondrial pathways by virtue of shared evolutionary history. We additionally used our matched mRNA and protein measurements to demonstrate a widespread role of upstream open reading frames (uORFs) in blunting translation of mitochondrial and other cellular proteins. Next we used the mitochondrial protein inventory to identify genes underlying inherited diseases of mitochondrial dysfunction. In collaboration with clinicians, we identified causal mutations in five genes underlying diseases including hepatocerebral mtDNA depletion syndrome, autosomal dominant mitochondrial myopathy, and several forms of inherited complex I deficiency. These discoveries have enabled the development of diagnostic tests now widely available. More broadly, the mitochondrial compendium provides a foundation for systematically exploring the organelle's contribution to both basic cellular biology and human disease.by Sarah E. Calvo.Ph.D

Pameran Reka Cipta, Penyelidikan dan Inovasi (PRPI) 2009

PRPI 2009 kini telah memasuki tahun penganjurannya yang ke-7. Pameran penyelidikan di UPM telah bermula sejak tahun 1997 semasa Exhibition & Seminar Harnessing for Industry Advantage. Pada tahun 2002, Pameran Reka Cipta dan Penyelidikan (PRP) buat pertama kali telah diadakan dengan menggunakan konsep pertandingan hasil projek penyelidikan yang telah dijalankan oleh para penyelidik UPM. Kejayaan penganjuran PRP 2002 telah merintis usaha untuk menjadikannya sebagai aktiviti tahunan UPM dan ianya terus berkembang sejajar dengan nama baharunya yang ditukar kepada Pameran Reka Cipta, Penyelidikan dan Inovasi yang bermula penganjurannya pada tahun 2005. Sebagai kesinambungan daripada kejayaan penganjuran PRPI 2006, 2007 dan 2008 yang lalu dan status UPM sebagai salah sebuah Universiti Penyelidikan, PRPI 2009 kali ini yang merupakan pameran penyelidikan yang terbesar di UPM terus dilaksanakan dengan aspirasi dan semangat yang lebih jitu. Pameran ini juga menjadi pelantar kepada para penyelidik untuk mengenengahkan hasil penyelidikan yang dijalankan dan penemuan baharu kepada umum. Di samping itu ianya juga menjadi penanda aras terhadap kualiti sesuatu projek penyelidikan bagi melayakkan para penyelidik UPM untuk menyertai pameran di peringkat kebangsaan dan seterusnya antarabangsa. Adalah diharapkan pelaksanaan PRPI 2009 ini akan dapat menyemarakkan budaya penyelidikan di kalangan staf dan juga pelajar UPM sekaligus menjadikan UPM sebagai Universiti Penyelidikan yang cemerlang di negara ini

Embryonic Stem Cells

Embryonic stem cells are one of the key building blocks of the emerging multidisciplinary field of regenerative medicine, and discoveries and new technology related to embryonic stem cells are being made at an ever increasing rate. This book provides a snapshot of some of the research occurring across a wide range of areas related to embryonic stem cells, including new methods, tools and technologies; new understandings about the molecular biology and pluripotency of these cells; as well as new uses for and sources of embryonic stem cells. The book will serve as a valuable resource for engineers, scientists, and clinicians as well as students in a wide range of disciplines

Case series of breast fillers and how things may go wrong: radiology point of view

INTRODUCTION: Breast augmentation is a procedure opted by women to overcome sagging breast due to breastfeeding or aging as well as small breast size. Recent years have shown the emergence of a variety of injectable materials on market as breast fillers. These injectable breast fillers have swiftly gained popularity among women, considering the minimal invasiveness of the procedure, nullifying the need for terrifying surgery. Little do they know that the procedure may pose detrimental complications, while visualization of breast parenchyma infiltrated by these fillers is also deemed substandard; posing diagnostic challenges. We present a case series of three patients with prior history of hyaluronic acid and collagen breast injections. REPORT: The first patient is a 37-year-old lady who presented to casualty with worsening shortness of breath, non-productive cough, central chest pain; associated with fever and chills for 2-weeks duration. The second patient is a 34-year-old lady who complained of cough, fever and haemoptysis; associated with shortness of breath for 1-week duration. CT in these cases revealed non thrombotic wedge-shaped peripheral air-space densities. The third patient is a 37‐year‐old female with right breast pain, swelling and redness for 2- weeks duration. Previous collagen breast injection performed 1 year ago had impeded sonographic visualization of the breast parenchyma. MRI breasts showed multiple non- enhancing round and oval shaped lesions exhibiting fat intensity. CONCLUSION: Radiologists should be familiar with the potential risks and hazards as well as limitations of imaging posed by breast fillers such that MRI is required as problem-solving tool

Development of High-speed Optical Coherence Tomography for Time-lapse Non-destructive Characterization of Samples

Optical coherence tomography (OCT) is an established optical imaging modality which can obtain label-free, non-destructive 3D images of samples with micron-scale resolution and millimeter penetration. OCT has been widely adopted for biomedical researches

Characterization of alar ligament on 3.0T MRI: a cross-sectional study in IIUM Medical Centre, Kuantan

INTRODUCTION: The main purpose of the study is to compare the normal anatomy of alar ligament on MRI between male and female. The specific objectives are to assess the prevalence of alar ligament visualized on MRI, to describe its characteristics in term of its course, shape and signal homogeneity and to find differences in alar ligament signal intensity between male and female. This study also aims to determine the association between the heights of respondents with alar ligament signal intensity and dimensions. MATERIALS & METHODS: 50 healthy volunteers were studied on 3.0T MR scanner Siemens Magnetom Spectra using 2-mm proton density, T2 and fat-suppression sequences. Alar ligament is depicted in 3 planes and the visualization and variability of the ligament courses, shapes and signal intensity characteristics were determined. The alar ligament dimensions were also measured. RESULTS: Alar ligament was best depicted in coronal plane, followed by sagittal and axial planes. The orientations were laterally ascending in most of the subjects (60%), predominantly oval in shaped (54%) and 67% showed inhomogenous signal. No significant difference of alar ligament signal intensity between male and female respondents. No significant association was found between the heights of the respondents with alar ligament signal intensity and dimensions. CONCLUSION: Employing a 3.0T MR scanner, the alar ligament is best portrayed on coronal plane, followed by sagittal and axial planes. However, tremendous variability of alar ligament as depicted in our data shows that caution needs to be exercised when evaluating alar ligament, especially during circumstances of injury

A two-layered classifier based on the radial basis function for the screening of thalassaemia

The thalassaemias are blood disorders with hereditary transmission. Their distribution is global, with particular incidence in areas affected by malaria. Their diagnosis is mainly based on haematologic and genetic analyses. The aim of this study was to differentiate between persons with the thalassaemia trait and normal subjects by inspecting characteristics of haemochromocytometric data. The paper proposes an original method that is useful in screening activity for thalassaemia classification. A complete working system with a friendly graphical user interface is presented. A unique feature of the presented work is the adoption of a two-layered classification system based on Radial basis function, which improves the performance of the system