23 results
diagnosis neurology treatment mri pathophysiology radiology syndromes algorithm cord endocrinology posterior spinal spinalcord 21hydroxylasedeficiency 21ohd acromegaly anemia ankle aplastic bee
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... Incr Skeletal fractures ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Causes of Developmental ... Delay - Differential ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Peds #Pediatrics
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
Non-inflammatory Causes ... meningitis • Genetic ... MRI lesions and clinical ... consistent with MS ... noninflammatory #differential
Causes of Neuromuscular Weakness • Spinal Cord: Demyelinating Disease (MS), Epidural abscess, Infarction, Syringomyelia, Tetanus, Transverse
Causes of Neuromuscular ... Demyelinating Disease (MS ... heavy metals), Critical ... Shellfish poisoning, Meds ... #differential #
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
is a rare genetic ... disorder, caused ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... renal failure Clinical ... anterior/posterior MSK ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Lesions of the Spinal cord - Spinal Cord Syndromes Spinal cord lesions can result in permanent neurologic
Causes of spinal ... Lower motor neuron symptoms ... Upper motor neuron symptoms ... Vertebral burst fracture ... #lesions #differential
Haglund Syndrome - MSK Radiology Imaging Findings: • The Haglund Deformity (enlarged superior margin calcaneal posterior process)
- MSK Radiology ... Case description ... Differential diagnosis ... • Stress fracture ... #Heel #clinical
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
workup 1) Clinical ... Alzheimer - 1st cause ... Aphaso-apraxo-agnosia syndrome ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
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