9 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... , vomiting • Late ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... share the same pathophysiology ... prior to growth plate ... signs #symptoms #endocrinology ... #pathophysiology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... roughly double this rate ... Genetic Predisposition ... Agammaglobulinemia #XLinked #pathophysiology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Diagnosis #Management #Endocrinology ... #Treatment #Pathophysiology
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Pathogenesis and clinical ... Neurotic personality Genetics ... • Incr Heart rate ... BehavioralDisorder #Pathophysiology
Facial bruising- Marked bruising of the face can occur during delivery. It is more common when
precipitous or difficult ... #peds #pediatrics ... #clinical #photo
Lichen Planus- ...On examination, numerous purple papules were noted on the anterior surface of the forearms
sawtooth rete pegs ... treated, and the later ... #NEJM #clinical ... #photo #lichen #
Terry's Nails

Patient of about 70 years, HIV positive, transplanted kidney donor cadaver in the previous 6
to Clostridium difficile ... two-thirds of the nail plate ... #PhysicalExam #Clinical ... #Photo