0 Medical One Liners 121-130

121. Various types of vasculitis produce aneurysms in many portions of the aorta and its branches, but Takayasu arteritis is the only type of aortitis that produces stenosis in the thoracic aorta.

(ref: Miller SM. Thoracic aortic diseases.)

122. Noonan Syndrome has Phenotype as that of Turner syndrome but Normal Karyotype (XX or XY).

123. Earliest disease for which enzyme supplementation / replacement therapy introduced - Gaucher's disease.

124. 1st disease for which Gene therapy introduced - SCID 

125. The dystrophin gene is the largest gene found in nature.

126. Down's syndrome in a baby of young mother is most commonly due to - Robertsonian translocation , not trisomy.

127. Maternal Lithium - Ebstein Anomaly - Box shaped heart.

128. Most common heart tumor - Atrial Myxomas

129. Umblical cord - 2 arteries 1 vein ( Right umblical vein disappears ).

130. The Pulmonary vascular resistance falls fairly rapid to reach Normal adult values by 2-3 wks in normal babies.
In VSD and PDA , it takes 6-10 wks.

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