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diagnosis pathophysiology differential hepatology physicalexam 21hydroxylasedeficiency 21ohd abnormal behcet chronic cirrhosis classification cll dementia disease endocrinology enzymes examination fever findings
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
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
1) Clinical ... ... laboratory tests ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic
Fever of Unknown Origin (FUO) - Further Workup • CNS symptoms? Get an LP and imaging
• CNS symptoms ... Returning Traveler’ algorithm ... Test for the respective ... thin smear • Signs ... node biopsy • Clinical
Clinical features of Liver Disease in Children #Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology **
Clinical features ... #LiverFailure #Signs ... #Symptoms #PhysicalExam ... Findings #Diagnosis #Peds ... #Pediatrics #Hepatology
Abnormal liver function tests algorithm. This figure details the initial response to abnormal liver blood tests.
algorithm. ... /or suspicious clinical ... symptoms/signs ... presence of metabolic syndrome ... LFTs #Abnormal #Algorithm
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 ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Behçet's Syndrome Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy Epidemiology: • Young
association • M > F Clinical ... (Clinical Dx). ... inhibitors • Uveitis- Ophthalmology ... diagnosis #management #signs ... #symptoms #rheumatology
Chronic Lymphocytic Leukemia - Summary Cancer affecting lymphocytes/Mature B cell neoplasm • Lymphocytes accumulate in large numbers
adults in the west ... Orange or Hep C Clinical ... with no early symptoms ... Physical Exam/Signs ... Leukemia #diagnosis #workup
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis
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