Lit Neuromuscular, MSK Flashcards
(117 cards)
- What was the incidence of persistent fontanelles (PF) in Chihuhahuas?
- What are the predilection sites for PFs?
- Was there an association between PFs and chiari-like malformation/ syringomyelia-related clinical signs?
- PFs were associated with which individual characteristics and CNS structural abnormalities (name 4)?
Kiviranta JVIM 2021 (Parts I & II)
1. 92% with >/=1 PF.
2. Dorsal (48%), lateral (14%), caudal (37%) cranial surfaces.
3. Chihuahuas with CM/SM-related clinical signs have more numerous & larger PFs.
4. Small size, SM, ventriculomegaly, craniocervical junction overcrowding.
- Tumor type and/or grade of canine gliomas were strongly associated between clin path findings and survival. (T/F)
- Which MRI characteristics were found to be useful in:
a) refining diagnosis of tumor type & grade?
b) predicting shorter survival?
José-López JVIM 2021
1. False - no association identified.
2. a) Oligodendrogliomas associated with smooth margins & T1W hypointensity (vs astrocytomas & undefined gliomas), and more commonly in contact with ventricles (vs astrocytomas). Tumor spread to neighbouring brain structures was associated with high-grade glioma.
2. b) Irregular/poorly defined margins, T2W heterogeneous signal, drop metastases (seizures = lower risk factor)
What is the diagnostic utility of arterial spin labelling (ASL) in dogs & cats undergoing brain MRI?
Hoffmann JVIM 2021
Non-invasive technique that allows quantification of cerebral blood flow (CBF), can be useful to characterise various brain diseases.
What was the major adverse effect noted in dogs undergoing implantable vagus nerve stimulation (VNS) for treatment of epilepsy, and what is the mechanism behind this?
Harcourt-Brown JVIM 2021
Coughing which is generally well tolerated, esp if current is increased slowly & other stimulation parameters are adapted for effect.
Vagus nerve contains large efferent myelinated A fibers & small, unmyelinated C fibers –> fibre depolarisation causes adverse effects (dysphonia, dysphagia, cough, dyspnea, paresthesia, headache, pain)
List the dog breeds affected by hereditary sensory and autonomic neuropathies (HSANs), and the associated genetic variants.
Gutierrez-Quintana JVIM 2021
3 variants identified to date.
1. Inversion in RETREG1 (reticulophagy regulator 1) - encodes Golgi protein. Border Collies & BC crosses.
2. Point variant in GDNF gene - encodes glial cell-derived neurotrophic
factor. Pointer, English Springer Spaniel & French Spaniel.
3. RETREG1 - family of mixed breed dogs (all homozygotes). CSx severe acral
mutilation & progressive HL gait abnormalities.
In dogs with acquired MG, what was the:
a) clinical remission (CR) rate
b) immunological remission (IR) rate
c) factors negatively correlated with CR
d) factors positively correlated with CR
Forgash JVIM 2021
a) 31% (no CSx 4wks after stopping tx)
b) 59% (all IR dogs also achieved CR)
c) older dogs, regurgitation at presentation, high initial [AChR Ab]
d) Younger dogs, dogs with co-morbid endocrine dz
- What is the causal gene mutation identified in Golden Retrievers with congenital myasthenia gravis?
- Gene mutations in other dog breeds & modes of inheritance?
Differences in clinical presentation between congenital vs acquired MG?
Tsai JVIM 2020
1. Point mutation in COLQ gene that predicts an AA substitution (G294R). COLQ encodes the collagenous tail of AChE (enzyme responsible for termination of skeletal muscle contraction by clearing ACh at the NMJ)
- Danish Pointers - missense mutation in the gene encoding choline acetyltransferase
Labs - non-synonymous mutation in COLQ gene (encoding the collagen-like tail of the asymmetric acetylcholinesterase)
JRTs - deletion & non-synonymous mutation in the CHRNE gene (encodes the epsilon subunit of the nicotinic ACh receptor)
Congenital MG also reported in Smooth fox terriers & Eng Springer Spaniels (mutations not yet described) - Congenital MG - megaO is not a common clinical feature. CSx usually begin at weaning with progressive muscle weakness that is exacerbated by exercise.
In cats with acquired MG without a cranial mediastinal mass (CMM), what were the most consistent clinical abnormalities?
What was the clinical progression and long term prognosis of acquired MG w/o CMM in cats?
Mignan JVIM 2020
1) Skeletal muscle weakness. 2) Fatigability induced or exacerbated by the wheelbarrow exercise stress test.
Frequently achieve immune remission (within 6mths of diagnosis); can be spontaneous. Excellent long-term outcome - so impt to differentiate from cats with CMM.
What is serum high-mobility group box 1 (HMGB1) an indicator of in dogs?
Rank the serum [HMGB1]s in the following groups of dogs (from highest to lowest) and approximate [ ].
- Epilepsy course <3mths
- Healthy dogs
- Epileptic dogs
- Epilepsy course >3mths
Mediator of neuroinflammation.
- Epilepsy course >3mths (0.87ng/mL)
- Epileptic dogs (0.41ng/mL)
- Epilepsy <3mths (0.26ng/mL)
- Healthy dogs (0.12ng/mL)
No sig diff between dogs with non-epileptic brain dz & healthy dogs. Potentially useful biomarker of epilepsy.
What proportion of dogs
a) Developed post-encephalitic epilepsy (PEE) after MUO?
b) Developed drug-resistant epilepsy?
c) Clinical features (list 2) & d) risk factors (list 2) for PEE development after MUO in dogs?
Kaczmarska JVIM 2020
a) 23%
b) 21%
c) Clinical features - younger, significant shorter survival times
d) Risk factors - presence of acute symptomatic seizures (ASS; OR = 4.76) & MRI hippocampal lesions.
What proportion of dogs had effective seizure control with midazolam CRI:
- Dogs with cluster seizures (CS)
- Dogs with status epilepticus (SE)
- Overall (includes above + structural/reactive/idiopathic epilepsy)
Duration taken to achieve seizure control with midazolam CRI?
What was the incidence & type of adverse effects observed?
Bray JVIM 2020
CS - 81%
SE - 67%
Overall - 77.4%
~25hrs
22.6% AE, all mild (sedation, V+ or D+, hyperexcitability, ataxia, polyphagia)
Describe the following associated with seizures triggered by eating (STE) in dogs:
- Clinical feature
- Predominant seizure type
- Most common breed identified
- Associated with structural disease in which regions of the brain
Brocal JVIM 2020
- >50% of seizures related to eating
- Focal seizures becoming generalised
- Retrievers (4/10)
- Parietal, temporal, and frontal cortex (perisylvian region)
Repetitive transcranial magnetic stimulation (rTMS) to treat dogs drug-resistant IE:
- Define technique?
- Effect on seizure frequency?
- Duration of effect?
Charalambous JVIM 2020
- Non-invasive neurostimulation technique. May have potential long-lasting neuromodulatory effects on the brain - disrupts networks related to cortical hyperexcitability.
- Significantly reduced Monthly seizure frequency (MSF) & monthly seizure day frequency (MSDF)
- Overall effect of rTMS lasted 4 months (proportion of MSF post-TMS to pre-TMS <1).
- What was the causal gene & mode of inheritance identified in Mini Schnauzers with demyelinating polyneuropathy?
- Describe
a) Presenting signs
b) Age of disease onset & clinical presentation
c) Treatment strategies
d) Disease progression & prognosis
Mariné JVIM 2020
1. MTRM13/SBF2, autosomal recessive.
- a) Hallmark CSx - regurgitation + megaO & aphonic bark. +/- obvious neuromuscular weakness despite EMG evidence of appendicular DMP.
b) Age of onset = 3-18mths, clinical presentation = 4-96 mths
c) Preventive feeding measures & symptomatic tx to control aspiration pneumonia (meds, elevated feeding).
d) Disease tends to remain stable long-term - occ asp pneumonia (rarely cause of death). Overall good px with medical management.
Novel motor polyneuropathy in Siberian cats:
- Probable mode of inheritance
- Presenting signs
- Prognosis
Crawford JVIM 2020
a) Autosomal recessive
b) CSx – progressive or waxing/waning neuromuscular weakness (100%), normal sensory function (100%), variably decreased withdrawal reflexes (75%).
c) Good overall. Episodes self-limiting (usually within 1-4wks), recurrence (1 or more episodes) common but full recovery typical.
What is the prevalence of seizures in:
- Dogs & cats with idiopathic internal hydrocephalus
- Post-ventriculoperitoneal shunting for internal hydrocephalus?
Farke JVIM 2020
1.7%
None observed in study population (98 dogs, 23 cats)
Canine mucopolysaccharidosis type I (MPS-I) - describe:
a) Pathogenesis
b) Causal gene
c) Clinical presentation
d) 1 drug which may be useful in managing this disease.
Faller JVIM 2020
a) Lysosomal storage disorder. Caused by α-L-iduronidase enzyme deficiency –> accumulation of undegraded dermatan and heparan sulfates in cells –> secondary multiorgan dysfunction.
b) IDUA gene
c) Variable; dysmorphic appearance, MSK, ocular and cardiac defects. Can survive to adulthood.
d) Pentosan polyphosphate - improved CSx until euthanasia at 4.5yrs.
Prevalence of post-ictal MRI changes in dogs?
These changes were most commonly associated with:
- Which CNS regions?
- Which seizure types?
- Seizure frequency
- What timing of MRI wrt last seizure activity
Maeso JAVMA 2021
~12%
Locations - piriform lobe, hippocampus, temporal neocortex, cingulate gyrus.
Idiopathic > structural epilepsy (but can occur with both)
Cluster seizures or status epilepticus (vs self-limiting seizures)
Shorter time between MRI & last seizure
Define myoclonus & its classifications. What gene mutation is this associated with in dogs?
Lowrie JVIM 2017 (Review)
Sudden brief, involuntary muscle jerk. Epileptic vs non-epileptic in origin.
CLCN1 (skeletal muscle voltage-gated chloride) mutation
Non-epileptic myoclonic activity can occur with which infection in dogs? Pathogenesis? How does this present clinically?
Lowrie JVIM 2017 (Review)
Canine distemper virus.
Constant repetitive myoclonus occurs due to focal lesions causing pathological changes to the LMN of the spinal cord & cranial nerve nuclei - results in pacemaker - rhythmic muscle contractions.
Usually affects 1+ limb +/- facial muscle twitches;
What signalment is typical for cats affected by feline audiogenic reflex seizures (FARS)?
Clinical manifestation?
Prognosis?
What drug is effective (or ineffective) in the treatment of FARS?
Lowrie JFMS 2017 & 2018
Older cats (median 15yo at onset).
Birmans overrepresented (31%).
Seizures mostly triggered by high-frequency sounds, up to 20% spontaneous.
Generally non-progressive, but owner-perceived declining QOL with seizures >2yrs (not jumping, HL weakness, weight loss, less responsive).
Levetiracetam effective (decreased myoclonic seizure frequency by
>50%), whereas phenobarbital had minimal effect.
List some conditions associated with progressive myoclonic epilepsy (PME) in cats & dogs.
Lowrie JVIM 2017 (Review)
- Part of a degenerative encephalopathy.
a) Lafora disease (dogs) - usually occur in response to auditory & visual stimuli. Sudden muscular twitches ranging from jerky head mvts to generalized muscle fasciculations.
b) Neuronal ceroid lipofuscinosis (NCL) i.e. lysosomal storage disorder (dogs). - Unidentified aetiology (feline audiogenic reflex seizures)
What is Niemann-Pick type C disease NPC) that has been described in a cat? Mode of inheritance & causal mutation? Clinical manifesations?
Mauler JVIM 2017
Autosomal recessive. Neurovisceral lysosomal storage disorder - results in defective intracellular transport of cholesterol.
Missense mutation in NPC1 gene.
Neuro signs - cerebellar & vestibular signs as early as 6wks old. Progressive ataxia impairing ambulation - typically euthanised by 6mths.
What % of dogs/cats with supratentorial herniation had no direct clinical signs of herniation? What did the presence of a transtentorial line to the rostroventral aspect of the
cerebellum (TTX) on MRI indicate?
Lewis JVIM 2016
75%
More severe caudal transtentorial herniation, worst 24hr survival.