16 results
diagnosis management neurology differential genetics pediatrics 21hydroxylasedeficiency 21ohd alzheimersdisease barre bullous comatose cushings dementia dermatology diabetes diabeticketoacidosis dka encephalopathy excess
Features of a Sickle Cell Crisis Sickle-cell disease - an autosomal recessive blood disorder. Characterized by red
Crises can be precipitated ... The underlying pathophysiology ... to ischaemia. 2) ... #Features #Signs ... #Symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
disomy: inheriting 2 ... Signs/Symptoms ... Obesity -> Type 2 ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Presenilin 1 and 2 ... mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #symptoms
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
• Other rare causes ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... : (distinct symptoms ... ) • Löfgren syndrome ... Diagnosis #Management #Signs ... #Symptoms
Bullous Pemphigoid - Diagnosis and Management Summary Pathophysiology: Autoantibody-mediated damage to epithelial basement membrane -> separation of
Management Summary Pathophysiology ... dermis Clinical Signs ... /Symptoms/Exam findings ... - Erosions and crusts ... topical steroids 2.
Myasthenia Gravis Overview Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction. Ab to
Ptosis, diplopia 2. ... muscles: “myasthenic crises ... - Peek sign ... 2. ... Myasthenia Crises
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings • Note: in DKA, body K+ is lost
out of cells may cause ... 1) +++ fluids. 2) ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
• Hypertensive crisis ... Etiology: • Pathophysiology ... Neurological symptoms ... the underlying cause ... until cause identified
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