37 results
symptoms management differential physicalexam algorithm hematology neurology cirrhosis dementia endocrinology geriatrics hemophagocytic hepatology hlh hsp kawasaki lymphohistiocytosis treatment vasculitis 21hydroxylasedeficiency
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
Kawasaki Disease ... Early diagnosis ... #Kawasaki #Disease ... #Features #Signs ... #Peds #Pediatrics
Clinical Features and Complications of Measles Rash: Spreads downwards, from behind the ears to the whole Of the
Clinical Features ... #Measles #Diagnosis ... Kopliks KoplikSpots #Peds ... #Pediatrics #Timeline ... #Signs #Symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... Risk factor for Late ... mutations - Down syndrome ... #geriatrics #diagnosis
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm Cardiac: • Congenital Heart Disease •
- Differential Diagnosis ... Congenital Heart Disease ... Metabolism • Reye's Syndrome ... Algorithm #Causes #Peds ... #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... , vomiting • Late ... #genetics #endocrinology ... #peds #pediatrics
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... Carpal Tunnel Syndrome ... Cardiovascular disease ... Overproduction #diagnosis ... #signs #symptoms
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
is a rare genetic ... that make it difficult ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
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