Diagnosis Of Genetic Disorders & Infectious Diseases

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Diagnosis Of Genetic Disorders & Infectious Diseases

  1. 1. DIAGNOSIS OF GENETIC DISORDERS & INFECTIOUS DISEASES Presentation by S.Prasanth Kumar
  2. 2. PLAN Autosomal Dominant Autosomal Recessive X-linked Dominant X-linked Recessive Y-linkage Bacterial Diseases Viral Diseases
  3. 3. AUTOSOMAL DOMINANT Scenario
  4. 4. Huntington's disease
  5. 5. MOLECULAR BIOLOGY
  6. 6. Pathway
  7. 7. A microscope image of a neuron with inclusion (stained orange) caused by HD, Chemical structure of tetrabenazine DIAGNOSIS Psychological Examination CT, MRI Genetic Testing Neuroleptics , Benzodiazepines, Amantadine or Remacemide
  8. 8. AUTOSOMAL RECESSIVE Scenario
  9. 9. Niemann–Pick disease
  10. 10. Fatal inherited metabolic disorders that are included in the larger Family of lysosomal storage diseases (LSDs) MOLECULAR BIOLOGY
  11. 11. D I A G N O S I S Organ transplant Enzyme Replacement Gene Therapy CYCLO (2-hydroxypropyl-β- cyclodextrin or HPBCD )
  12. 12. X-Linked Dominance SCENARIO
  13. 13. Incontinentia pigmenti
  14. 14. MOLECULAR BIOLOGY
  15. 15. DIAGNOSIS Collaborative Skin Biopsy Genetic Counseling, Prenatal Testing, Preimplantation Genetic Diagnosis
  16. 16. X- linked Recessive SCENARIO
  17. 17. Color Blindness
  18. 18. Rainbow Color
  19. 19. No color deficiencies Protanopia Deuteranopia Tritanopia
  20. 20. DIAGNOSIS Ishihara color test "74" Normal color vision. “21“ Dichromacy or Anomalous Trichromacy Not See Numbers Achromatopsia
  21. 21. Y- linkage No Interchromosomal Genetic Recombination
  22. 22. Male Infertility
  23. 23. The most common cause of male infertility is a varicocele (say: "var-ee-koh-seal"). This is when the veins in the scrotum (the skin "sack" that hangs beneath the penis) are dilated (enlarged) on 1 or both sides. This heats the inside of the scrotum and may affect sperm production.  Low sperm count  Sperm that are abnormally shaped or that don't move correctly  Undescended testicle  An underlying medical problem CAUSES
  24. 24. DIAGNOSIS Semen Analysis Genetic Counselling Encouraged for IVF
  25. 25. Bacterial Diseases
  26. 26. Miliary tuberculosis
  27. 27. Miliary tuberculosis is characterized by a chronic, contagious bacterial infection caused by Mycobacterium tuberculosis that has spread to other organs of the body by the blood or lymph system.
  28. 28. Tests include chest x-ray, sputum culture,bronchoscopy,TB skin test, open lung biopsy, head CT/MRI, blood cultures, and electrocardiography Isoniazid and Rifampicin for six months, Ethambutol and Pyrazinamide for the first two months DIAGNOSIS
  29. 29. VIRAL DISEASES
  30. 30. The feline leukemia virus (FeLV) The causative agent of the most important fatal infectious disease complex of American domestic cats Belonging to the family Retroviridae Individual particles of FeLV consist of two distinct morphologic (structural) components: 1. A dense inner core, or nucleoid, and 2. An outer envelope containing an immunologically important protein known as ~V70. (Principal antigen present on the virus surface) A second major antigen of the FeLV particle is the protein p27, which is a structural component of the inner viral core
  31. 31. DIAGNOSIS FeLV blood tests Enzyme-linked immunosorbent assay (ELISA) Immunotluorescence assay (IFA) Both tests detect the p27 protein of FeLV as it circulates in the bloodstream, either free in the blood (ELISA test) or within infected white blood cells (IFA test).
  32. 32. FOR YOUR ATTENTION

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