Presentation
Entire Body System
- Pathologist
All patients of HE-stained slides were reviewed and identified by two experienced pathologists and the representative cores were pre-marked in the paraffin blocks. [jcancer.org]
An experienced pathologist (SHD) graded NAFLD changes (NAFLD activity score (NAS); 0–11) using a modified version of the system described by Kleiner et al.[ 11 ]. [journals.plos.org]
- Camping
Camp RL, Dolled-Filhart M, Rimm DL. X-tile: a new bio-informatics tool for biomarker assessment and outcome-based cut-point optimization. Clin Cancer Res. 2004; 10 :7252-9 17. Andreou A, Vauthey JN, Cherqui D, Zimmitti G, Ribero D, Truty MJ. et al. [jcancer.org]
Immune System
- Splenomegaly
Common symptoms include hepatomegaly, splenomegaly, jaundice and vertical supranuclear gaze palsy (VSGP). 95% of NPC patients will have mutations in the NPC1 gene. [mangen.co.uk]
[…] in newborn 0006579 Psychosis 0000709 Respiratory failure 0002878 Respiratory insufficiency Respiratory impairment 0002093 Sea-blue histiocytosis 0001982 Seizures Seizure 0001250 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Splenomegaly [rarediseases.info.nih.gov]
Neurologic
- Loss of Speech
[…] of speech 0002371 Low cholesterol esterification rate 0003349 Muscular hypotonia Low or weak muscle tone 0001252 Neurofibrillary tangles 0002185 Onset Age symptoms begin 0003674 Perseveration 0030223 Prolonged neonatal jaundice Prolonged yellowing of [rarediseases.info.nih.gov]
- Expressive Aphasia
Other neurologic symptoms include ataxia, facial dyskinesis, bradykinesia, expressive aphasia, dysarthria and cognitive decline. Visceromegaly seems to be less common than in type C1 ( 257220 ). [disorders.eyes.arizona.edu]
- Aphasia
Other neurologic symptoms include ataxia, facial dyskinesis, bradykinesia, expressive aphasia, dysarthria and cognitive decline. Visceromegaly seems to be less common than in type C1 ( 257220 ). [disorders.eyes.arizona.edu]
- Bradykinesia
Other neurologic symptoms include ataxia, facial dyskinesis, bradykinesia, expressive aphasia, dysarthria and cognitive decline. Visceromegaly seems to be less common than in type C1 ( 257220 ). [disorders.eyes.arizona.edu]
Workup
Other Pathologies
- Visceromegaly
Visceromegaly seems to be less common than in type C1 ( 257220 ). Cholesterol esterification is impaired with accumulation in intracellular organelles. [disorders.eyes.arizona.edu]