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Thrombophilias

Thrombophilia

Congenital

1. Factor V Leiden mutation

2. Prothrombin G2021 OA mutation

3. Antithrombin deficiency

4. Protein C deficiency

5. Protein S deficiency

6. Hyperhomocysteinemia

Acquired (anti phospholipid antibody syndrome)

1. Anti-cardiolipin antibody

2. Lupus anticoagulant

 

Obstetric Complications of Thrombophilias (Congenital and Acquired)

  1. Recurrent abortions
  2. Severe preeclampsia
  3. IUGR
  4. Sudden unexplained IUFD
  5. Abruption

Some Aspects of the More Common Congenital Thrombophilias

 

Thrombophilia

Genetics

Prevalence (%)

Increased Relative Risk of

Venous Thromboembolism

Factor V Leiden mutation (most common)

AD

 

2-15

3-8-fold

Prothrombin G20210A mutation

AD

 

2-3

3-fold

Antithrombin deficiency

(most thrombogenic)

AD

0.02

25-50-fold

Protein C deficiency

AD

 

0.2-0.3

10-15-fold

Protein S deficiency

AD

 

0.1-2.1

2-fold

Hyperhomocysteinemia

AR

 

11

2.5-fold (if> 18.5 μmol/L)

 

 

 

 

3-4-fold (if >20 μmol/L)

 

The anticardiolipin antibodies and the lupus anticoagulant bind to "annexin V" and "beta 2 microglobulin," which are naturally occurring anticoagulants present in our body. This leads to decrease in levels of free" annexin V" and "beta 2 microglobulin," leading to thrombosis.

Treatment of Thrombophilias (Acquired and Congenital)

Treatment includes low-dose aspirin as soon as the pregnancy is confirmed and injection heparin when the cardiac activity is confirmed on USG. Aspirin is to be omitted at 34 weeks and heparin is stopped 24 h before planned delivery (induction) or LSCS.

Pulmonary Disorders

Pneumonia

  1. Many bacteria that cause community-acquired pneumonia, such as Streptococcus pneupumiae, are part of the normal resident flora.
  2. A number of factors can upset the symbiotic relationship between colonizing bacteria and mucosal phagocytic defenses. Examples include acquisition of a virulent and invasive strain or bacterial infection following a viral infection.
  3. Cigarette smoking and chronic bronchitis favor colonization with S. pneumoniae, Haemophilus influenzae, and Legionella.
  4. Other risk factors include asthma, binge drinking, smoking, and HIV infection.

Factors That Increase the Risk of Death or Complications with Community-Acquired Pneumonia

  1. Coexisting chronic conditions
  2. Clinical findings: Respiratory rate ≥30/min, hypotension, pulse ≥125 bpm, hypothermia (<35°C), temperature >40°C, altered mental status, and extrapulmonary disease
  3. Laboratory findings: Leukopenia (<4000/μL) or leukocytosis >30,000/ μL; PO2 ≤60 mmHg or CO2 retention while breathing room air; elevated serum creatinine; anemia; or evidence of sepsis or organ dysfunction such as acidosis or coagulopathy
  4. Radiological findings: More than one-lobe involvement, cavitation, or pleural effusion
    1. Antimicrobial treatment is empirical. Because the majority of adult pneumonias are caused by pneumococci, mycoplasma, or chlamydia; therapy with erythromycin or one of its newer analogs is given.
    2. In whom staphylococcal or Hemophilus pneumonia is suspected, cefotaxime or ceftriaxone is given in addition to erythromycin therapy.





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