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DIAGNOSIS OF GENETIC DISORDERS & INFECTIOUS DISEASES Presentation by S.Prasanth Kumar
PLAN ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
AUTOSOMAL DOMINANT  Scenario
[object Object],[object Object]
MOLECULAR BIOLOGY
Pathway
  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
AUTOSOMAL RECESSIVE Scenario
Niemann–Pick disease
[object Object],[object Object],MOLECULAR BIOLOGY
D I A G N O S I S Organ transplant  Enzyme Replacement  Gene Therapy  CYCLO (2-hydroxypropyl-β-cyclodextrin or HPBCD )
X-Linked Dominance SCENARIO
Incontinentia pigmenti
MOLECULAR BIOLOGY
DIAGNOSIS Collaborative Skin Biopsy Genetic Counseling, Prenatal Testing,  Preimplantation Genetic Diagnosis
X- linked Recessive SCENARIO
Color Blindness
Rainbow Color
No color deficiencies Protanopia  Deuteranopia  Tritanopia
DIAGNOSIS Ishihara color test "74"  Normal color vision.  “ 21“  Dichromacy or Anomalous Trichromacy  Not See Numbers  Achromatopsia
Y- linkage No Interchromosomal Genetic Recombination
Male Infertility
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],CAUSES
DIAGNOSIS Semen Analysis Genetic Counselling Encouraged for IVF
[object Object]
Miliary tuberculosis
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.
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
[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
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).
FOR YOUR ATTENTION

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