Saudi Cultural Missions Theses & Dissertations
Permanent URI for this communityhttps://drepo.sdl.edu.sa/handle/20.500.14154/10
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Item Restricted Investigation of The Genetic Basis of Polycystic Ovarian Syndrome Through Exome Sequencing Studies in The Saudi Women(ARABIAN GULF UNIVERSITY, 2024) Alfifi, Yasmin Ahmad; Bakhiet, Moiz; Taha, Safa; Khan, Imran AliPolycystic ovarian syndrome (PCOS) is one of the raising endocrine and metabolic disorders in the reproductive-aged women. Rotterdam criteria is used in this study to screen the PCOS women based on hyperandrogenism, oligo-anovulation, and polycystic ovaries. Obesity is considered as a major factor for the development of PCOS along with the exacerbations of PCOS. Different formats of studies have been conducted in the PCOS women from Saudi Arabia, but none of them accurately recorded genetic basis of PCOS in Saudi women. This has led to a lack of focus on the PCOS disease in Saudi Arabia, which is now a common condition among Saudi women. Moreover, there are no exome sequencing studies were documented in the Saudi women with PCOS. Therefore, the aim of this study was to investigate the whole exome sequencing (WES) analysis in the Saudi women diagnosed with PCOS. This study selected 18 PCOS women based on the Rotterdam criteria and 8 healthy controls for the WES analysis. Additionally, we have enrolled anthropometric, biochemical, clinical details and measurements in all the 18 PCOS women and 8 control. A total of 5ml of peripheral blood was collected, 3ml was used for serum analysis, and 2 mL was used for molecular analysis. Genomic DNA was isolated, nanodrop was quantified, and then WES analysis was studied. The result in this study, altogether 96 missense variants in several genes were documented in 18 patients, which are related to PCOS. The study concludes that women with PCOS have primarily documented the rs141382822, rs747554207, rs74575904, rs56216806, and rs61752535 variants. These variants are associated with both endocrine and metabolic disorders associated with PCOS, and they play a significant role in the Saudi population.10 0Item Restricted Histopathology Detection Using High-resolution Infrared Spectroscopic Imaging for Nodal Metastases in Oral Squamous Cell Carcinoma(University of Liverpool, 2023-11-21) AlJedani, Safaa Salem E; Weightman, Peter; Risk, JanetOral squamous cell carcinoma (OSCC) predominantly metastasises to lymph nodes and poses significant diagnostic challenges. The current gold standard for analysing OSSC biopsies is Hematoxylin and Eosin (H&E) staining, which provides essential tissue morphology information. Fourier Transform Infrared (FTIR) imaging can be used to complement (H&E) staining diagnosis. FTIR images provide information on chemical composition at diffraction-limited spatial resolution. This dissertation presents two novel approaches to overcome the spatial resolution limitations of FTIR imaging: a regression fusion model combining the high spatial resolution of (H&E) stains with the spectral information from FTIR and Optical Photothermal Infrared Micro-Spectroscopy (O-PTIR). The experiments utilised formalin-fixed, paraffin-embedded OSCC cervical lymph node metastases tissue microarrays (TMAs) with 1 mm diameter tissue cores. IR imaging was conducted using the Agilent Cary 620-FTIR imaging microscope, while O-PTIR micro-spectroscopy images were acquired in both reflection and transmission modes. The fusion models were employed to merge co-registered pairs of FTIR and H&E images, with the quality of fusion assessed using the structural similarity index measure (SSIM) and Spectral Angular Mapper (SAM). The results demonstrate minimal distortion and enhanced spatial resolution. Analysis of O-PTIR data in both reflection and transmission modes revealed that the reflection mode offered more detailed images with reasonable morphology and signal-to-noise ratio, while the transmission mode required higher laser power, posing potential sample damage risks. Ratio images from O-PTIR show contrast similar to H&E images. Pixel-wise models struggled to reproduce tissue discrimination, primarily due to information loss from neighbouring pixels. Substantial accuracy improvement was achieved with a spatial-spectral model employing a hybrid convolutional neural network-random forest (CNN-RF) approach. In summary, this research demonstrates that image fusion techniques and O-PTIR can surpass the diffraction limits found in traditional FTIR techniques. Overall, this dissertation contributes to the advancement of IR molecular histopathology, particularly in the challenging context of imaging highly complex tissues such as OSCC metastases in lymph nodes.20 0