Genetic Diagnoses.

Intro -- GENETIC DIAGNOSES -- GENETIC DIAGNOSES -- Contents -- Preface -- Chapter I Defining a Cause: Result Priority between Preeclampsia and Thyroid Function -- Abstract -- TSH in Preeclampsia -- FT3/FT4 in Preeclampsia -- T3/T4 in Preeclampsia -- Further Observations -- Thyroid Function as a Link between Preeclampsia and Eythyroid Sick Syndrome (ESS) -- Hypo-, Hyper-Thyroidism and Preeclampsia: Defining a Cause - Result Axis -- Anti-Thyroid Antibodies and Preeclampsia -- Preeclampsia and the Thyroid Function of the Infant -- References -- Chapter II Molecular Diagnosis of Thalassemia -- Abstract -- 1. Background -- 1.1. Epidemiology -- 1.2. Pathophysiology -- 1.2.1. Hemoglobin Component and Types -- 1.2.2. α-Thalassemia -- 1.2.2.1. α-Globin Gene Cluster -- 1.2.2.2. Classifications of α-Thalassemia -- 1.2.2.3. Molecular Etiology of α-Thalassemia -- 1.2.3. β-Thalassemia -- 1.2.3.1. β-Globin Gene Cluster -- 1.2.3.2. Classifications of β-Thalassemia -- 1.2.3.3. Molecular Etiology of β-Thalassemia -- 2. Laboratory Testing of Thalassemia -- 2.1. Hematologic and Biochemical Screening -- 2.1.1. Complete Blood Count (CBC) -- 2.1.2. Electrophoretic Analysis -- 2.1.3. High Performance Liquid Chromatography (HPLC) -- 2.1.4. Staining of HbH inclusion bodies -- 2.2. Molecular Methods -- 2.2.1. Southern Blot Analysis -- 2.2.2. Gap PCR for Deletions -- 2.2.3. Dot-Blot and Reverse Dot-Blot Hybridization -- 2.2.4. PCR - Restriction Fragment Length Polymorphism (RFLP) Analysis -- 2.2.5. Denaturing Gradient Gel Electrophoresis (DGGE) -- 2.2.6. Amplification Refractory Mutation System (ARMS) -- 2.2.7. Direct DNA Sequencing -- 2.2.8. Minisequencing -- 2.2.9. Multiplex Ligation-Dependent Probe Amplification (MLPA) -- 2.2.10. Methods for Detection of α-Globin Gene Triplications and Quadruplications -- 2.2.11. Real-Time PCR.

2.2.12. High Resolution Melting Analysis -- 2.2.13. Microarray: High-Throughput Approaches in Molecular Diagnostics -- 3. Prenatal and Preimplantation Genetic Diagnosis of Thalassemia -- Conclusion -- References -- Chapter III Fuzzy Logic and the Least Squares Method in Diagnosis Problem Solving -- Abstract -- 1. Introduction -- 2. Diagnosis Problem Statement -- 3. Fuzzy Model of Diagnosis -- 3.1. Diagnostic Approximator Based on Fuzzy Relations -- 3.2. Diagnostic Approximator Based on Fuzzy Rules -- 4. Solving the Least Squares Equations -- 4.1. Genetic Optimization of the Null Diagnostic Solution -- 4.2. Genetic Search for the Diagnostic Solution Set -- 4.2.1. Diagnosis Based on Fuzzy Relations -- 4.2.2. Diagnosis Based on Fuzzy Rules -- 5. Fuzzy Model Tuning -- 6. Computer Simulations -- 6.1. Approximation Based on Fuzzy Relations -- 6.2. Approximation Based on Fuzzy Rules -- 7. Example of Fuel Pump Diagnosis -- 8. Example of Hydraulic Elevator Diagnosis -- Conclusion -- References -- Chapter IV Molecular Diagnosis of Spinocerbellar Ataxias -- Abstract -- Introduction -- Polyglutamine (polyQ) Expansions (Coding Expansion SCAs) -- Non-Coding Expansion SCAs -- FXTAS: Fragile X-Associated Tremor/Ataxia Syndrome -- Genetic Diagnosis of SCAS -- Genetic Counseling -- Molecular Analysis of SCAs -- According to Our Experience -- Conclusion -- Acknowledgment -- References -- Chapter V Genetics of Left Ventricular Noncompaction -- References -- Chapter VI A Genetic Diagnosis to Type 1 Diabetes? -- Abstract -- Introduction -- Genetic Predisposing Factors -- 1. The MHC Class II Genes -- 2. The Insulin Gene (INS) -- 3. The CTLA4 (Cytotoxic T-Lymphocyte Associated 4) Gene -- 4. The PTPN22 Gene -- 5. The Interleukin-2 Alpha Chain Receptor Gene (IL2RA) -- 6. The IFIH1/MDA5 Gene -- 7. Other Genes -- a. The CAPSL and IL7R Genes -- b. KIAA0350/CLEC16A.

c. STAT4 -- Genetic Diagnosis in t1d -- Genetic Variability: The Asian Case -- Therapeutic Strategies in T1D -- 1. Treatments -- 2. Prevention and Genetics -- Conclusion -- References -- Chapter VII State of the Heart on Genetics of Congenital Heart Diseases: Molecular Basis, Genetic Diagnosis and Counselling -- Abstract -- Introduction -- 1. Embryogenesis of the Heart -- 2. Techniques Used for the Discovery of the Genetic Basis of Cardiovascular and Congenital Heart Diseases -- Linkage Analysis -- Candidate Gene Association -- RNA Expression Profiling -- Resequencing -- 3. Genes Involved in Heart Development -- TFAP2B -- Tbx1 -- NKX2-5, 2-6 -- ZFPM2/FOG2 -- GATA-4 -- 4. Non-Inherited Factors Involved in CHD -- 5. Pre- and Post-Natal Diagnosis -- 6. Congenital Heart Diseases Detected by Genetic Tests -- 6.1. Digeorge Syndrome -- Genetic Test -- Genetic Counseling -- Williams-Beuren Syndrome -- Genetics of Williams-Beuren Syndrome -- Genetic Test -- Genetic Counseling -- Alagille Syndrome -- Genetics of Alagille Syndrome -- Genetic Test -- Genetic Counseling -- Noonan Syndrome -- Genetics of Noonan Syndrome -- Genetic Test -- Genetic Counseling -- Holt-Oram Syndrome -- Genetics of Holt-Oram Syndrome -- Genetic Test -- Genetic Counseling -- Turner's Syndrome -- Down Syndrome -- Nonsyndromic Single-Gene Disorders -- 7. Genetic Counselling -- Appendix I -- Text Abbreviations -- References -- Index -- Blank Page.

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Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2024. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.