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Diagnosis Of Genetic Disorders & Infectious Diseases

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  • 1. DIAGNOSIS OF GENETIC DISORDERS & INFECTIOUS DISEASES Presentation by S.Prasanth Kumar
  • 2. PLAN
    • Autosomal Dominant
    • Autosomal Recessive
    • X-linked Dominant
    • X-linked Recessive
    • Y-linkage
    • Bacterial Diseases
    • Viral Diseases
  • 3. AUTOSOMAL DOMINANT Scenario
  • 4.
    • Huntington's
    • disease
  • 5. MOLECULAR BIOLOGY
  • 6. Pathway
  • 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. AUTOSOMAL RECESSIVE Scenario
  • 9. Niemann–Pick disease
  • 10.
    • Fatal inherited metabolic disorders that are included in the larger
    • Family of lysosomal storage diseases (LSDs)
    MOLECULAR BIOLOGY
  • 11. D I A G N O S I S Organ transplant Enzyme Replacement Gene Therapy CYCLO (2-hydroxypropyl-β-cyclodextrin or HPBCD )
  • 12. X-Linked Dominance SCENARIO
  • 13. Incontinentia pigmenti
  • 14. MOLECULAR BIOLOGY
  • 15. DIAGNOSIS Collaborative Skin Biopsy Genetic Counseling, Prenatal Testing, Preimplantation Genetic Diagnosis
  • 16. X- linked Recessive SCENARIO
  • 17. Color Blindness
  • 18. Rainbow Color
  • 19. No color deficiencies Protanopia Deuteranopia Tritanopia
  • 20. DIAGNOSIS Ishihara color test "74" Normal color vision. “ 21“ Dichromacy or Anomalous Trichromacy Not See Numbers Achromatopsia
  • 21. Y- linkage No Interchromosomal Genetic Recombination
  • 22. Male Infertility
  • 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. DIAGNOSIS Semen Analysis Genetic Counselling Encouraged for IVF
  • 25.
    • Bacterial Diseases
  • 26. Miliary tuberculosis
  • 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. 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.
    • VIRAL DISEASES
  • 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:
    • A dense inner core, or nucleoid, and
    • 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. 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. FOR YOUR ATTENTION