46 results
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
Conjugation == Gilbert Syndrome ... hyperbilirubinemia syndrome ... autosomal recessive syndrome ... as jaundice on clinical ... Crigler-Najjar Syndromes
Hypereosinophilia and Hypereosinophilic Syndrome

 • Secondary Hypereosinophilic Syndrome
 • Clinically Relevant HES Variants
 • When to
Hypereosinophilic Syndrome ... Hypereosinophilic Syndrome ... • Clinically ... underlying hematologic disorders ... Hypereosinophilic #Syndrome
Cryoglobulinemia Summary

Cryoglobulins:
 • Cryoglobulins are Igs in the serum that precipitate in vitro at temperatures below
: • Clinical triad ... Lymphoproliferative disorders ... hematological disorders ... to Autoimmune Disorders ... connective tissue disorder
Beautiful acanthocytes/spur cells in a patient with McLeod Syndrome. X-linked disorder characterized by reduced expression of
patient with McLeod Syndrome ... X-linked disorder ... SpurCells #McLeod #Syndrome ... Pathology #Microscopy #Clinical
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... • Osteogenesis Imperfecta
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... Other brainstem syndromes ... Hypothalamic or thalamic syndromes ... Comorbid autoimmune disorders ... erythematosus, Sjögren syndrome
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neurocognitive disorders ... workup 1) Clinical ... Aphaso-apraxo-agnosia syndrome ... hallucinations - Movement disorders
Phalen's Test for Carpal Tunnel Syndrome

Phalen's test evaluates for carpal tunnel syndrome. 
Fully flex wrists and
Carpal Tunnel Syndrome ... carpal tunnel syndrome ... Fully flex wrists ... #Wrist #PhysicalExam ... #clinical #video
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Stiff Person Syndrome ... Stiff Person Syndrome ... Clinical Manifestations ... other neurological disorders ... limb or joint disorders
Pisa Syndrome (pleurothotonus) on Physical Exam
A tonic flexion of the trunk of the body to one
Pisa Syndrome (pleurothotonus ... neurodegenerative disorders ... FatimahDandan #Pisa #Syndrome ... #PhysicalExam #clinical