Analysis of the D1S80 VNTR locus polymorphism in the Nubian population

D1S80 (1p35-p36), variable Number of tandem repeat (VNTR,) is a minisatellite molecular genetic marker. It is known by its high polymorphism that makes it a powerful marker in the forensic applications, paternity testing, and evolutionary studies. Hypervariable D1S80 locus has been applied to study the genetic structure of the Nubian population in Southern Egypt. PCR has been applied for repeats amplification and analyzed on 2% agarose gel. 75 genotypes and 36 alleles with their frequencies were detected for 105 unrelated individuals. Allele 27 has the highest frequency 0.119% followed by allele 26 with frequency 0.09%. Heterozygosity was calculated as 0.69%. P values of Chi2 and exact tests indicate departure from Hardy-Weinberg equilibrium which points to the inbreeding within the population. Non-metric dimensional scaling and hierarchical cluster dedrograms were applied to determine the phylogenetic relationship between the Nubian population and other worldwide populations. Both plots indicated the proximity of the Nubian population to Modern Malay population as a result of dominance of 27 alleles in both populations

Genetic Programming for Biomarker Detection in Classification of Mass Spectrometry Data

Mass spectrometry (MS) is currently the most commonly used technology in biochemical research for proteomic analysis. The primary goal of proteomic profiling using mass spectrometry is the classification of samples from different experimental states. To classify the MS samples, the identification of protein or peptides (biomarker detection) that are expressed differently between the classes, is required. However, due to the high dimensionality of the data and the small number of samples, classification of MS data is extremely challenging. Another important aspect of biomarker detection is the verification of the detected biomarker that acts as an intermediate step before passing these biomarkers to the experimental validation stage. Biomarker detection aims at altering the input space of the learning algorithm for improving classification of proteomic or metabolomic data. This task is performed through feature manipulation. Feature manipulation consists of three aspects: feature ranking, feature selection, and feature construction. Genetic programming (GP) is an evolutionary computation algorithm that has the intrinsic capability for the three aspects of feature manipulation. The ability of GP for feature manipulation in proteomic biomarker discovery has not been fully investigated. This thesis, therefore, proposes an embedded methodology for these three aspects of feature manipulation in high dimensional MS data using GP. The thesis also presents a method for biomarker verification, using GP. The thesis investigates the use of GP for both single-objective and multi-objective feature selection and construction. In feature ranking, the thesis proposes a GP-based method for ranking subsets of features by using GP as an ensemble approach. The proposed algorithm uses GP capability to combine the advantages of different feature ranking metrics and evolve a new ranking scheme for the subset of the features selected from the top ranked features. The capability of GP as a classifier is also investigated by this method. The results show that GP can select a smaller number of features and provide a better ranking of the selected features, which can improve the classification performance of five classifiers. In feature construction, this thesis proposes a novel multiple feature construction method, which uses a single GP tree to generate a new set of high-level features from the original set of selected features. The results show that the proposed new algorithm outperforms two feature selection algorithms. In feature selection, the thesis introduces the first GP multi-objective method for biomarker detection, which simultaneously increase the classification accuracy and reduce the number of detected features. The proposed multi-objective method can obtain better subsets of features than the single-objective algorithm and two traditional multi-objective approaches for feature selection. This thesis also develops the first multi-objective multiple feature construction algorithm for MS data. The proposed method aims at both maximising the classification performance and minimizing the cardinality of the constructed new high-level features. The results show that GP can dis- cover the complex relationships between the features and can significantly improve classification performance and reduce the cardinality. For biomarker verification, the thesis proposes the first GP biomarker verification method through measuring the peptide detectability. The method solves the imbalance problem in the data and shows improvement over the benchmark algorithms. Also, the algorithm outperforms a well-known peptide detection method. The thesis also introduces a new GP method for alignment of MS data as a preprocessing stage, which will further help in improving the biomarker detection process

Salivary testosterone measurement in women with and without polycystic ovary syndrome

Clinical and/or biochemical hyperandrogenism is one of the diagnostic criteria for PCOS. An evaluation of the role of salivary testosterone (salT) and androstenedione (salA) for the diagnosis of PCOS was undertaken in a cross sectional study involving 65 women without PCOS and 110 women with PCOS fulfilling all 3 diagnostic Rotterdam criteria. Serum and salivary androgen measurements were determined by LC-MS/MS. salT and salA were significantly elevated in PCOS compared to controls (P<001). No androgen marker was more predictive than another using ROC curves, but multiple logistic regression suggested salT was more predictive than free androgen index (FAI)(p<0.01). The combination of salT or FAI identified 100% of PCOS women. PCOS women with both biochemical and clinical hyperandrogenism as opposed to clinical hyperandrogenism alone showed a metabolic phenotype (p<0.05) and insulin resistance(p<0.001). PCOS patients with an isolated elevated FAI showed increased insulin resistance compared to those with an isolated salT(P<0.05). salT appeared to be at least as predictive as FAI for the diagnosis of the classical PCOS phenotype, and the combination of salT or FAI identified 100% of PCOS patients. This suggests that salT measurement by LC-MS/MS holds the promise of complementing existing laboratory tests as a means of assessing hyperandrogenemia

Morphological and Biochemical Adaptive Changes Associated With A Short-period Starvation of Adult Male Japanese Quail (Coturnix japonica)

Objective: The morphological and biochemical impact of a short-period of starvation on Japanese quail was investigated. Materials and Methods: Ten adult male Japanese quail were divided into two groups; control fed and starved. The control-fed group was offered food and water ad libitum and the starved group was subjected to a short-period of food deprivation. After 2.5 days, the serum was obtained and different parameters including the total protein, AST, ALT, triglyceride, HDL, LDL, creatinine and urea were assessed. Gastrointestinal tract, stomach and liver were excised and their masses were estimated. Paraffin and resin embedded sections from the proventriculus, gizzard, liver, duodenum, kidney and pancreas were examined with a light microscopy. Results: Significant decreases in the masses of body, gastrointestinal tract, stomach and liver of the starved group were recorded. The liver and duodenum were the most affected organs. The liver showed depletion of glycogen, vacuolation, hyperemia and cellular infiltrations. Duodenal villi showed degenerative changes in lamina epithelialis and cellular infiltrations in the lamina propria. Biochemical analysis revealed a decreased level of total protein, AST and ALT, increased cholesterol, triglycerides and LDL and unchanged HDL, urea and creatinine by starvation. Conclusion: The current study described in details the effect of short time starvation on quail organs. Time-point adaptive responses of male quail to starvation and refeeding will be investigated in future studies

A hidden cause of infertility in hypothyroid patients

Methylene tetrahydrofolate reductase (MTHFR) gene mutations could be the cause of infertility in hypothyroid patients. Hence, it is worthy to screen for MTHFR gene mutations in infertile hypothyroid females and their partners if infertility persists after optimizing thyroid function

Diagnostic value of F-18 FDG PET/CT for local and distant disease relapse surveillance in surgically treated RCC patients: Can it aid in establishing consensus follow up strategy?

BACKGROUND: Aim of the study was to evaluate the diagnostic performance of FDG PET-CT for the detection of local and distant disease relapse in surgically treated patients with renal cell carcinoma (RCC). MATERIAL AND METHODS: This retrospective study includes 96 patients underwent FDG PET-CT scanning in the post-surgical follow up within the first 6–12 months referred to nuclear medicine department, to perform PET/CT study. Each patient underwent FDG PET-CT with low dose CT, followed immediately by full dose Ce-CT. Sites of the relapse were categorized into local and distant recurrence. Distant recurrence sites were divided into lymph nodes, lung, bone, and other soft tissue sites. The final diagnosis of disease status was made on subsequent follow up by conventional imaging (CT/MRI), FDG PET-CT, or histopathology whenever possible. RESULTS: Local and/or distant disease relapse was confirmed in 69 (71.9%) patients and the rest 28.1% were free. Regarding local recurrence FDG PET-CT showed specificity of 100% compared to 98.6% with Ce-CT (p > 0.05) and higher sensitivity noted with Ce-CT (100%) compared to 96% with FDG PET-CT. For global distant sites of metastases Ce-CT revealed high sensitivity and NPV of 93.3% & 96.9% respectively yet lower specificity (93.96%) and PPV (87.5%) was seen with Ce-CT compared to 99.6% and 99.1% with FDG PET-CT respectively. The higher Ce-CT sensitivity was attributed to its ability to detected 100% of cases of lung metastases compared to 80.6% with FDG PET-CT (P-value < 0.05). CONCLUSION: FDG PET-CT appears to be a very efficient tool in post-surgical surveillance of patients with RCC with notable ability to probe even uncommon sites of distant recurrence

Investigating Bias in Facial Analysis Systems: A Systematic Review

© 2013 IEEE. Recent studies have demonstrated that most commercial facial analysis systems are biased against certain categories of race, ethnicity, culture, age and gender. The bias can be traced in some cases to the algorithms used and in other cases to insufficient training of algorithms, while in still other cases bias can be traced to insufficient databases. To date, no comprehensive literature review exists which systematically investigates bias and discrimination in the currently available facial analysis software. To address the gap, this study conducts a systematic literature review (SLR) in which the context of facial analysis system bias is investigated in detail. The review, involving 24 studies, additionally aims to identify (a) facial analysis databases that were created to alleviate bias, (b) the full range of bias in facial analysis software and (c) algorithms and techniques implemented to mitigate bias in facial analysis

Sclerodactyly and Diabetic Complications among Egyptian Adolescent Type 1 Diabetic Patient

BACKGROUND: One of the common complications of diabetic patients is sclerodactyly which is considered as a part of limited joint mobility. AIM: To assess sclerodactyly in adolescent type 1 diabetics and to detect its relation to other diabetic complications. METHODS: Sixty-three diabetics and 60 controls were studied. Clinical, laboratory assessment, ultrasonography of the skin, carotid artery intima-media thickness (cIMT) & renal colour duplex were done for all participants. RESULTS: Sclerodactyly was positive in 12 (19%) of diabetics. Patients with sclerodactyly had a significantly thickened skin compared to patients without sclerodactyly and controls, P = 0.0001. Male diabetics had significantly thickened skin (p = 0.0001). Diabetic patients with sclerodactyly had significant higher systolic blood pressure (p = 0.03), cholesterol (p = 0.05) and triglyceride (p = 0.004) and lower HDL-c (p = 0.04). Skin thickness had a significant positive correlation with age of diabetic patients (p = 0.02), waist/height ratio (p = 0.04), glycosylated hemoglobin (p = 0.03), albumin/creatinine ratio (p = 0.03), and cIMT (p = 0.03). CONCLUSION: Ultrasound easily diagnoses sclerodactyly. Diabetic patients had a high prevalence of sclerodactyly with increased macrovascular and microvascular complications. Sclerodactyly may be a marker for diabetic vascular complications. Frequent follow up of diabetic patients for early detection of sclerodactyly in uncontrolled diabetic patients is recommended. It could be an alarming sign for microalbuminuria, hypertension, hyperlipidaemia and atherosclerosis

PHARMACOTECHNICAL DEVELOPMENT AND OPTIMIZATION OF MULTILAYERED TABLETS: AN UPDATED INDUSTRIAL REVIEW WITH EMPHASIS ON BILAYER TABLETS

Fixed-dose combination formulations are multilayered platforms designed for solving complex medication regimens and overcoming polypharmacy problems especially in chronic diseases with geriatric patients. Multilayered tablets are considered promising avenues to combine different active pharmaceutical ingredients (APIs) for a synergic therapeutic effect, or different formulations of the same API in order to achieve a specific drug release profile. Besides, multilayered tablets can extensively help in avoiding possible interactions between different drugs, as well as optimizing each formulation individually in terms of pharmacokinetics and manufacturability. This review article discusses the most suitable materials used in the manufacturing of multilayered tablets, describes novel approaches to manufacturing improvement and process parameters, the influence of process parameters on layer adhesion, and the characterization tests of multilayered tablets