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| Clinical Pearl-Square doc |
BY, Rupjit Banik
Clinical Pearl : 14
Explanation : Phenylketonuria is an autosomal dominant disease where there is mutation of the gene that codes for Phenylalanine hydroxylase (PAH). This enzyme converts the Phenylalanine into Tyrosine which is a precursor of Melanin synthesis. So, PAH deficiency leads to decreased Tyrosine leading to decreased Melanin synthesis. So, light colour of skin and hair. On the other hand, increased Phenylalanine level causes Mental retardation. It is also excreted through sweat and urine causing strong musty or mousy odour.
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Clinical Pearl : 15
Early morning generalized stiffness in joints especially in hands is a characteristic of Rheumatoid Arthritis where as short lived stiffness of hip following inactivity is indicative of Osteoarthritis.
Reference : Browes's Introduction To The Symptoms & Signs Of Surgical Disease, 5th Edition.
Clinical Pearl : 16
If genital ulcer is Painless, palpate the inguinal lymph node. If the lymph node is painless, the Dx is Syphilis. If not, the Dx is Lymphogranuloma venereum.
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Clinical Pearl : 17
How to differentiate Upper UTI and Lower UTI clinically?
Check if there is Renal Angle Tenderness or not. If present, the diagnosis is Upper UTI, otherwise it will be Lower UTI.
Note: Renal Angle Tenderness is also called Costovertebral Angle Tenderness. Renal angle is the angle between the 12th rib & spine. Tenderness is checked by percussing the described area.
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