2136 results
Distal Renal Tubular Acidosis
Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Macular Hole  - Slit Lamp Ocular Examination

Dr. Sebastian Vega @oftalmopo

#Macular #Hole #Retina #Ocular #PhysicalExam #clinical
Macular Hole - ... Slit Lamp Ocular ... @oftalmopo #Macular ... #Hole #Retina #Ocular
Classification of Diabetes Insipidus

Central or neurogenic diabetes insipidus:
 - Congenital - Structural malformations affecting the hypothalamus
rarely recessive) mutations ... : inactivating mutations ... recessive or dominant mutations ... Classification #Types #Nephrology
Physical exam findings of various ocular palsies; image courtesy of the BMJ

R 3rd nerve palsy
R 4th
findings of various ocular ... nerve palsy #Ocular ... CNIII #CNIV #CNVI #Neurology
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm
 • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Pendular Nystagmus on Ocular Exam

Pendular nystagmus seen in this patient with multiple sclerosis

#Pendular #Nystagmus #Ocular #PhysicalExam
Pendular Nystagmus on Ocular ... Pendular #Nystagmus #Ocular ... multiple #sclerosis #neurology
Horizontal Nystagmus on Ocular Examination

Dr Prasad Jain @DrPrasadJain

#Horizontal #Nystagmus #Ocular #PhysicalExam #clinical #video #neurology #ophthalmology
Horizontal Nystagmus on Ocular ... Horizontal #Nystagmus #Ocular ... clinical #video #neurology
Ocular Cross-Section Anatomy and Ophthalmology Acronyms

EOM - Extra ocular movements
IOL - Intraocular Lens
IOP - Intraocular Pressure
OD
Ocular Cross-Section ... EOM - Extra ocular ... Pressure OD - Oculus ... right eye) OS - Oculus ... left eye) OU - Oculus
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
- Caused by mutations