Continuum - Questões Flashcards

Question

Which of the following is a helpful clue to distinguish acute flaccid myelitis due to enterovirus infection from Guillain-Barré syndrome? A absence of respiratory failure B asymmetric pattern of weakness C neuropathic pain D prodromal illness E sensory level on examination

Answer 1

B)x. Infections from enterovirsu are typically **asymmetric** and may affect one or more limbs. Prodromal illness is typically present in both disorders and both may include significant respiratory involvement or significant neuropathic pain. In acute myelitis, T2 hyperintensities of the gray matter will be seen and, in GBS, nerve root enhancement of the cauda equina may be seen. Sensory level is unusual in either disorder.

Answer 2

C)x. Symptoms and imaging findings consistent with acute **necrotizing encephalitis.** Although rare, this disorder has been **associated with the influenza virus, affecting pediatric patients more often than adult patients.** In addition to influenza virus, acute necrotizing encephalitis **has also been reported in patients with COVID-19.**

Answer 3

B)x. This patient is presenting with symptoms and radiologic findings concerning for a **cerebral venous thrombosis**, best diagnosed with a **CT venogram of the head**. MRI brain is less crucial acutely, and a lumbar puncture in this case is not warranted and may be dangerous. **Although anticoagulation is the treatment for cerebral venous thrombosis, IV recombinant tissue plasminogen activator (rtPA) is not indicated.**

Answer 4

B)x. This patient has postural headache, meningismus, and photophobia, symptoms and signs of CSF hypotension. CSF hypotension due to a CSF leak may complicate craniotomy (especially posterior fossa decompression) or spinal surgery if dural closure is not complete.

Answer 5

C)X. The marginal mandibular branch of facial nerve innervates the muscles of the lower lip, especially the lip depressors. Injury to this branch, which may occur via compression by a retractor during carotid surgery, results in mouth asymmetry during smiling because of unopposed action of the mouth elevators. . The hypoglossal nerve is susceptible to injury during carotid surgery because of its proximity to the carotid bifurcation. Its damage results in ipsilateral tongue weakness and difficulty speaking, chewing, and swallowing. Cerebral hyperperfusion syndrome accompanying brain revascularization presents with ipsilateral headache, seizure, and focal neurologic symptoms.

Answer 6

A)x. Craniotomy for subdural hematoma evacuation is associated with a high rate of postoperative seizures, which can manifest as convulsive activity or subtle involuntary movements, fluctuating encephalopathy, or aphasia.

Answer 7

D)x. EEF features with poor prognostic: 1 - Epileptiform activity; 2 - Greater than 50% suppression of background activity in the absence of sedation; 3 - Loss of reactivity.

Answer 8

C)x. Bilateral absence of cortical peaks (N20 potentials) following stimulation of the median nerves is helpful to predict poor outcome in hypoxic-ischemic brain injury, although the accuracy depends on technical factors and false-positive rates may reach 25%.

Answer 9

A)x. Both hypoglycemia and hyperglycemia can worsen the prognosis of patients who have had hypoxic-ischemic brain injury. High cerebral reserve is an individual characteristic that can lead to a better prognosis. A shockable cardiac rhythm as the cause of a cardiac arrest portends a better prognosis than a nonshockable cardiac rhythm. Shivering during targeted temperature management is a good prognostic sign as it reflects relative sparing of the hypothalamus. An elevated neuron-specific enolase, not decreased, predicts poor outcomes.

Answer 10

D)x. The physician’s approach to shared decision making in critical care scenarios may lie on a **spectrum from parentalism** (in which the physician directs treatment decisions with little input from the patient/surrogate) **to autonomy** (in which the physician merely informs but leaves the decision entirely to the patient/surrogate).

Answer 11

B)x. Allows family to hope for the best while preparing for the worst.

Answer 12

C)X. Medications and other interventions that do not contribute to relief of distressing symptoms should be discontinued. This generally includes such medications as antithrombotics, statins, cardiovascular drugs, and hypoglycemic agents. Anticonvulsants may be continued for seizure prophylaxis. Benzodiazepines, opioids, and antipsychotic agents may be continued for relief of pain, dyspnea, anxiety, or agitation.

Answer 13

A)x. Guillain-Barré syndrome can rarely present in a fulminant fashion, with a rapidly progressive course with patients developing flaccid quadriplegia and loss of brainstem function mimicking a patient who is brain dead.

Answer 14

C)x. The World Brain Death Project requires that the “target for apnea testing should be pH <7.3 and PaCO2 >60 mm, unless the patient has preexisting hypercapnia, in which case the target should be ≥20 mm Hg above their baseline, if known.” The addition of pH as a target addresses the impact of acidosis on medullary chemoreceptors.

Answer 15

E)x. It is important to note that consent from the family is not required before a brain death assessment.

Answer 16

Neuromuscular disorders with early involvement of respiratory muscles (with consequent orthopnea and nocturnal hypoventilation): 1 - Acid Maltase Deficiency; 2 - Amyotrophic Lateral Sclerosis; 3 - Myasthenia Gravis.

Answer 17

D)x. Spinobulbar muscular atrophy tends to present with orobulbar, proximally predominant weakness, or both. Botulism presents with more diffuse weakness. **Kearns-Sayre syndrome typically presents with predominantly oculobulbar weakness**. Lambert-Eaton myasthenic syndrome typically presents with proximally predominant weakness.

Answer 18

E)x. P/Q in 85%. Autoantibodies against L-type or N-type calcium channels may be identified in a smaller proportion of patients with LEMS, but are nonspecific, and the presence of these autoantibody types in the absence of P/Q-type VGCC should not be considered supportive of a diagnosis of LEMS. Potassium-channel autoantibodies may be associated with various peripheral or central nervous system manifestations such as neuromyotonia or limbic encephalitis, but not LEMS.

Answer 19

B)x avoid medications with neuromuscular blockade properties, such as those used in general anesthesia, macrolide and quinolone antibiotics, and checkpoint inhibitors. Amifampridine/3,4-diaminopyridine (potassium-channel antagonist that blocks presynaptic potassium efflux to prolong depolarization by maintaining calcium influx through functional voltage-gated calcium channels and optimize acetylcholine release) and pyridostigmine (cholinesterase inhibitor) are the mainstays of symptomatic therapy for LEMS. Phosphodiesterase-5 inhibitors may be used for erectile dysfunction in LEMS.

Answer 20

**Anti-MuSK myasthenia gravis (MG) is associated with more severe disease than other forms.** **Late-onset MG tends to have an overall better outcome than early-onset MG.**

Answer 21

**The risk of myasthenia gravis exacerbation with immune checkpoint inhibitors is high**, whereas it is **moderate (macrolide antibiotics)** or **low (iodinated contrast agents, quinine, statins)** for the other agents listed.

Answer 22

C)X **Extraocular muscle weakness is very uncommon in treatable idiopathic inflammatory myopathies**; the **exceptio**n is myositis associated with **the use of immune checkpoint inhibitors.** **Myocarditis and lymphopenia** are also features of immune checkpoint inhibitor– related myositis.

Answer 23

C)x. A) The V-sign. B) Gottron papules. E) Red on white patches with coexistent hypopigmented and telangiectatic skin lesions describes poikiloderma

Answer 24

C)x. Dermatomyositis and anti-HMGCoa-Redutase: incidence > 40%. Overlap myositis, anti-SRP and antisynthetase syndrome: low risk. Screening is not recommended.

Answer 25

C)x. Firs-line: corticosteroides. Second-line: azathioprine, methotrexate, or mycophenolate - required in most patients for the steroid-sparing effects. Third-line: IV immunoglobulin. Fourth-line: rituximab, calcineurin inhibitors, and cyclophosphamide. Anti–tumor necrosis factor agents are avoided because they may exacerbate myositis.

Answer 26

C)x. The presence of finger flexor and quadriceps weakness together with either endomysial inflammation or rimmed vacuoles on histopathology (the European Neuromuscular Centre 2011 criteria) resulted in an 84% sensitivity for diagnosis of inclusion body myositis.

Answer 27

B)x. Should be referred to cardiology given the risk of cardiac involvement even in the absence of skeletal muscle symptoms.

Answer 28

B)x. Early findings in Duchenne muscular dystrophy include: 1 - Persistent toe-walking; 2 - gross motor delay; 3 - and delayed ambulation or abnormal gait. Speech delay is less commonly seen early in the course.

Answer 29

B)x. As compared to side effects seen with corticosteroids, deflazacort is associated with a higher risk of cataract formation.

Answer 30

A)x. Ambulation would be lost before age 13 in Duchenne muscular dystrophy and between 12 and 16 in intermediate muscular dystrophy. While fukutin and Emery-Dreifuss muscular dystrophies can resemble the dystrophinopathies and be associated with cardiomyopathy, they would not be expected to produce such a high creatine kinase nor enlarged calves.

Answer 31

A)x. Initial symptoms at the shoulder girdle include arm fatigue when reaching up and difficulty lifting objects overhead. Hip girdle symptoms include difficulty getting off the floor and climbing stairs. Distal and respiratory weakness typically do not occur until later. Musculoskeletal pain may develop related to compensatory posture changes, unstable joints, immobility, or contractures, but would not be a typical presenting complaint.

Answer 32

E)x. Variants of uncertain significance may be identified in three-fourths of individuals undergoing a next-generation sequencing panel for slowly progressive proximal weakness. Variants of uncertain significance are more likely to be pathogenic if: 1 - They are uncommon in the general population; 2 - Computational analysis suggests a deleterious or indeterminate effect; 3 - The number of variants matches the inheritance pattern; 4 - Mutations are on different parental alleles (for autosomal recessive disease); 5 - Western blot or muscle biopsy demonstrates absence of the involved protein.

Answer 33

E)x. DMPK and CNBP RNA transcripts with expanded repeats sequester RNA-binding proteins, which are involved in regulating alternative splicing of pre-mRNAs.

Answer 34

E)x. Mexiletine is recommended to treat clinically significant myotonia after an ECG and discussion with the patient’s cardiologist if appropriate.

Answer 35

C)x. Given the **high incidence of sleep-disordered breathing in patients with myotonic dystrophy, which is managed with noninvasive ventilation**, polysomnography would be the most appropriate test. Pulmonary function tests should be obtained. If those tests are normal, the effects of myotonic dystrophy on the brain can also cause hypersomnolence in the absence of sleep apnea or nocturnal hypoventilation.

Answer 36

A)x. The circular muscles around the eyes and mouth (orbicularis oculi and orbicularis oris) and the muscle that raises the corners of the mouth (zygomaticus major) are most commonly affected. **Levator palpebrae and extraocular muscles are typically spared**.

Answer 37

C)x. Most patients with facioscapulohumeral muscular dystrophy eventually develop lower extremity weakness, often first manifesting clinically by foot drop. Proximal lower extremity weakness occurs as well, and approximately 20% of patients eventually become wheelchair dependent. Scapular winging and **signe de cils** (failure to bury the eyelashes upon squeezing the eyes shut) are common early signs of the disease. **Cardiomyopathy is not associated with facioscapulohumeral muscular dystrophy, and diplopia is not a typical feature at any disease stage**.

Answer 38

C)x. A classic facioscapulohumeral muscular dystrophy (FSHD) phenotype with a mildly contracted D4Z4 repeat array and a pathogenic variant in the SMCHD1 gene is consistent with FSHD type 2 (FSHD2). FSHD2 has a digenic pattern of inheritance, meaning that pathogenic variants in two separate genes are necessary to cause the disease. Because each parent has only one of these variants and neither variant alone is sufficient to cause the disease, family history is often negative, as was the case in this patient.

Answer 39

D)x. Extramuscular manifestations of fascioscapulohumeral muscular dystrophy can include: 1 - sensorineural hearing loss; 2- retinal vasculopathy; 3- restrictive lung disease; 4 - Incomplete right bundle branch block. Patients with **infant-onset** disease or very short D4Z4 repeat array sizes **are most at risk and should be screened for hearing loss and retinal vasculopathy.**

Answer 40

B)x. (Deficiência de Miofosforilase). In particular, the presence of a persistently elevated creatine kinase with elevated uric acid as well as a “second-wind phenomenon” would all point to this condition.

Answer 41

**Fatty acid oxidation disorders**: Triheptanoin (an odd-chain free fatty acid); **Mitochondrial Myopathies**: Coenzyme Q10 supplementation; **Glycogen storage diseases**: 1. Ketogenic diet; 2. High-protein diet; 3. Pyridoxine.

Answer 42

B)x. Nondystrophic myotonia commonly presents with muscle stiffness and pain in the absence of severe fixed weakness or atrophy. **The most common site of stiffness is the legs.** **Ocular symptoms are uncommon.**

Answer 43

E)x. In patients with late-onset episodic** weakness in whom testing for SCN4A, CACNA1S, or KCNJ2 mutations is negative**, te***sting for RYR1 gene mutation should be considered since such mutations have been linked with genetically*** undefined periodic paralysis. Undefined periodic paralysis = RYR1.

Answer 44

C)x. **Chronic therapy:** 2. 1. Carbohydrate snacks; 2. Avoidance of potassiu-rich food. **Pharmacologic options:** 1. Acetazolamide; 2. Dichlorphenamide; 3. Thiazide diuretics. **Acute attacks can usually be aborted with:** 1. Mild exercise or oral carbohydrate snacks; 2. Inhaled β-beta agonists (used for severe attacks).

Answer 45

A)x. In haploinsufficiency disorders, mutations result in only half the amount of functional protein being produced, which is insufficient for normal cellular function. Haploinsufficiency disorders can in theory be addressed by any treatment that increases levels of functioning protein, such as gene replacement/gene supplementation or gene modulation with mutation-specific therapy.

Answer 46

C)x. Gene modulation refers to treatment strategies that alter the disease gene for functional benefit. For a subset of individuals with Duchenne muscular dystrophy, antisense oligonucleotides can be used to skip an additional exon, converting an out-of-frame Duchenne muscular dystrophy mutation into an in-frame mutation, resulting in production of a truncated, partly functional dystrophin protein.

Answer 47

D)x. Technologies such as **CRISPR/Cas9 use double-strand DNA breaks that cause permanent changes and are capable of completely fixing disease-causing mutations, regardless of mechanism.** Gene correction for muscle disease via CRISPR/Cas9 and other technologies is challenging because of **difficulties in delivery of the editing tools to the target tissues, immunogenicity, and target specificity**. **Skeletal muscle is a difficult target for gene correction because it is a nondividing tissue**.

Answer 48

C)x. Probable migraine is defined by meeting either the pain criteria (B) or associated symptom criteria (C).

Answer 49

Transient hearing loss has not been well described and should raise concern for an alternative diagnosis. The other symptoms listed are all relatively common. The presence of sinus pain/pressure and nasal congestion often leads to an incorrect diagnosis of sinus headache, and the presence of neck stiffness can lead to an incorrect diagnosis of tension-type headache.

Answer 50

A)x. 15 days for at least 03 months for simple analgesics and NSAIDs. For the others analgesis or the combination of them, 10 days.

Answer 51

E)x. The current pathophysiologic conceptualization of migraine classifies the disorder as having five phases, including (in order) **prodromal, aura, headache, postdromal, and interictal phases.** Prodromal can begin hours to days before aura and headache.

Answer 52

B)x. (PET) scanning in patients with prominent nausea as part of the headache phase of migraine has shown increased activation in various brain regions, including the **periaqueductal gray and rostral dorsal medulla**, compared to in patients without nausea.

Answer 53

C)x. 80% of the patients.

Answer 54

B)x. Initial management with a non–migraine-specific therapy is a reasonable approach in patients with infrequent mild to moderate migraine.

Answer 55

B)x. Naratriptan and frovatriptan have a longer half-life than the other triptans (6 to 26 hours as opposed to 2 to 4 hours).

Answer 56

A)x. Dihydroergotamine is available in nonoral (nasal) formulations and has been shown to be effective in patients with **moderate to severe migraine attacks that do not respond to triptans and that have associated allodynia**.

Answer 57

A)x. Ditans are 5-hydroxytryptamine, serotonin **(5-HT)1F** receptor agonists and do not cause vasoconstriction as do triptans, which are 5-HT1B agonists. Therefore, **they are a good alternative in patients who have responded well to triptans but then develop a vascular contraindication to their use**. Driving studies showed that participants had **driving impairment after a single dose that persisted for up to 8 hours.** Patients being started on this class of medication should be counseled to avoid driving after use

Answer 58

C)x. Gepant = CGRP inhibitor = a novel treatment class for acute migraine. **two gepants (ubrogepant and rimegepant)** Ubrogepant has the option for repeating the dose.

Answer 59

D)x. **Valproate, topiramate, propranolol, and metoprolol** are options for migraine prevention that have received the highest level of recommendation. **Amitriptyline** previously had a Level A rating from the American Academy of Neurology/American Headache Society but received a **Level B rating in the 2012** recommendations.

Answer 60

A)x. Modificações no estilo de vida + 02 drogas profiláticas -> refratário -> umabes -> anticorpos contra o CGRP. **Treatment with erenumab has been associated with severe constipation and obstipation, resulting in an addition to the package insert.**

Answer 61

C)x. Riboflavin, magnesium, and feverfew were all assigned a Level B evidence rating for their preventive effects.

Answer 62

D)x. The superior salivatory nucleus is the origin of the cranial parasympathetic autonomic vasodilator fibers. Central activation through this nucleus with influence by the sphenopalatine ganglion and trigeminal ganglion is believed to result in cluster headache attacks through activation of the posterior hypothalamus, which, in turn, connects to the trigeminal system.

Answer 63

A)x. **Approved for the treatment of *episodic cluster headache* in adults and has been found to be effective when administered shortly after the start of a period of attacks**. CGRP, along with pituitary adenylate cyclase-activating polypeptide (PACAP), vasoactive intestinal polypeptide (VIP), and nitrous oxide (NO), mediates the effects of the sphenopalatine ganglion and the trigeminal ganglion on central activation.

Answer 64

A)x No evidence has shown that preventive treatment will prevent subsequent bouts, and continuing treatment increases the risk of tachyphylaxis. A slow taper is not necessary, but it is recommended that symptoms be fully resolved for 2 weeks before discontinuing preventive treatment.

Answer 65

E)x. Short-lasting unilateral neuralgiform headache attacks (SUNHA) comprise a disorder **similar to V1 trigeminal neuralgia but with associated autonomic symptoms**. It is felt to be **caused by trigeminal nerve irritation that occurs in combination with hypothalamic dysfunction**. **Vascular loop compression of the ipsilateral trigeminal nerve is found in some cases**, and vascular decompression surgery may be beneficial for these patients. Therefore, **all patients with SUNHA should have neuroimaging performed to assess for vascular loop** compression and for pituitary abnormalities. **Peripheral sphenopalatine ganglion blockade may be efficacious in the treatment of cluster** headache, although evidence is not yet sufficient for this treatment. Same with DBS for cluster headache. Posterior fossa decompression and vagus nerve stimulator implantation do not have a role in the management of cluster headache or other trigeminal autonomic cephalalgias.

Answer 66

B)x. Given that his symptoms are largely provoked by cough, it is reasonable to **begin with a conservative approach, including coughsuppressant therapy**. If this is ineffective,** other options**, including **indomethacin, acetazolamide, and high-volume lumbar puncture** can be considered

Answer 67

D)x. This is a benign condition that does not require specific pharmacotherapy, although it can be managed with trigger avoidance and patient education. Brain and cerebrovascular imaging are not needed.

Answer 68

A)x. Hypnic headache is unique among chronic headache disorders in that daily caffeine consumption can result in improvement in headache, as opposed to exacerbation or no benefit seen in other headache syndromes.

Answer 69

B)x. Although some attacks may appear spontaneous, **patients must have a history or examination finding of pain precipitated by innocuous stimuli within the trigeminal distribution**. **Attacks must last a fraction of a second up to 2 minutes**. Duration in months of the overall attacks of pain is not included as part of the criteria. The pain of the attacks must be **described as electric shock–like, sharp, shooting, or stabbing and must be unilateral, without radiation beyond the trigeminal distribution**.

Answer 70

E)x. During a trigeminal neuralgia pain attack, **calcium-activated potassium channels open, allowing potassium ions to exit the neuron. Once this efflux results in membrane hyperpolarization**, the burst of firing will stop. If the hyperpolarization is significant enough that additional firing is unable to occur, it results in a refractory period.

Answer 71

D)x. **Mental neuropathy presents as numbness isolated to the unilateral chin and lower lip. **Neuropathic pain may also occur in the same distribution. Unexplained neuropathy in one or more branches of the trigeminal nerve should increase suspicion for a possible focal malignancy with direct invasion of the nerve. **Neuropathy isolated to the mental (or inferior alveolar)** nerve may also occur** with systemic malignancy**, related to **mandibular or leptomeningeal metastases** with** breast cancer** being the most commonly associated malignancy.

Answer 72

D)x. Neuralgia occipital. Antes de tentar tratamentos invasivos, tentar fisioterapia. Medicamentos: 1. DAE; 2. Tricíclicos. Invasivos: 1. Toxina botulínica; 2. Estimulação do nervo occipital; 3. Radiofrequência.

Answer 73

E)x. Periods of time in which estrogen levels are relatively stable are often when migraine becomes less frequent. Because of this, an increase in headache frequency at that time should prompt investigation for a possible secondary cause of headache, such as preeclampsia.

Answer 74

D)x. Migraine is associated with vascular disorders of pregnancy, including preeclampsia (with aura) and gestational hypertension (with or without aura).

Answer 75

E)x. Children whose headaches begin before the age of 6 have been shown to be more likely to need preventive therapy. Other risk factors have been associated with increased risk of chronic daily headache: 1. Anxiety related to academics; 2. Acute family financial distress; 3. History of abuse; 4. Depression; 5. Poor sleep. Early menarche (younger than 12 years old) is associated with increased odds of migraine and headaches of other types in adolescent girls but not with a worse prognosis;

Answer 76

B)x. **Ibuprofen 7.5 mg/kg to 10 mg/kg is the recommended first-line agent **for the acute treatment of migraine in children and should be used at the onset of an attack before the pain becomes severe. **Triptans are recommended as second-line agents**, with **rizatriptan** being the only US Food and Drug Administration (FDA)–approved triptan for children as young as 6 years of age. **Antiemetic medications may also be added.**

Answer 77

A)x. Other recommendations: discuss with patients and their families the evidence for **amitriptyline **combined with cognitive-behavioral therapy for migraine prevention and that they be informed of the potential side effects including the** risks of suicide**. **Propranolol**, another guidelinerecommended therapy, **can cause worsened asthma and exercise intolerance**.

Answer 78

C)x. In particular, no evidence has shown that its use is associated with major fetal malformations, and its large molecular weight prevents it from crossing the placenta or becoming concentrated in breast milk.

Answer 79

B)x. In general, anesthetic should be combined with steroid therapy when greater occipital nerve injections are performed for cluster headache management; for migraine, no evidence supports combination therapy over anesthetic alone.

Answer 80

A)x. **Acute orthostatic headaches are the hallmark presenting feature of spontaneous intracranial hypotension**, although a minority of patients may not present with the classic headache or their presentation may be composed of mainly nonheadache symptoms. Patients who develop** secondary complications of spontaneous intracranial hypotension, such as cerebral venous sinus thrombosis or subdural hematoma**, can have a change in their headache pattern with disappearance of the postural component or even development of a paradoxical postural aspect in which the headache worsens with lying down.

Answer 81

E)x. **The venous distension sign of the dominant transverse sinus has a high sensitivity and specificity **for spontaneous intracranial hypotension. **Diffuse pachymeningeal enhancement** on postcontrast brain MRI is a classic sign of spontaneous intracranial hypotension, occurring because of pachymeningeal venous dilation and increased contrast transit time (with a number of other disease states also causing pachymeningeal enhancement, although this is usually more nodular or localized than what is seen in spontaneous intracranial hypotension). Pituitary gland enlargement and pituitary hyperemia can be seen patients with spontaneous intracranial hypotension but are not highly specific or sensitive findings. **The degree of superior ophthalmic vein collapse** has been shown to have a correlation with intracranial pressures, with resolution of collapse noted after treatment of spontaneous intracranial hypotension.

Answer 82

A)x. Closure of the midbrain-pons angle is associated with a suboptimal response to at least a first attempt at epidural blood patch.

Answer 83

D)x. One major advantage to this approach is the **ability to obtain sequential imaging** at later time points, even **24 to 48 hours after radionuclide administration**, which is not feasible with most other imaging options to detect CSF leaks; this is especially advantageous in looking for slow leaks.

Answer 84

D)x Patients with Alzheimer disease typically have low amyloid-β 42, high phosphorylated tau, and high total tau in the CSF.

Answer 85

A)x. Approximately 40% of study participants receiving aducanumab in phase 3 trials developed **ARIA (ie, brain edema or microhemorrhages)** on MRI, with approximately 7% discontinuing the study because of ARIA-related issues. **The highest risk factors for ARIA were the presence of an APOE ε4 allele** (approximately 40% risk of ARIA for APOE ε4 carriers compared to approximately 20% for those without). Subsequently, it is **recommended** that an** MRI** be performed within 1 year of starting aducanumab,** before starting the drug, before the start of the highest dose (typically 6 months after starting), and before the 12th dose (approximately 1 year after starting).** Aducanumab has been approved for the treatment of MCI due to AD and **mild AD dementia (MMSE score >23 or Clinical Dementia Rating [CDR] of 0.5**, which indicates very mild dementia) and, although not explicitly listed in the drug’s label, **requires the presence of molecular biomarkers of AD** (specifically Aβ) as this is the target of the drug. **The risk-benefit profile for this and related drugs does not support the use beyond mild AD.**

Answer 86

C)x. Although all the answer choices except dementia with Lewy bodies can be associated with Alzheimer pathology, **it is most commonly present in logopenic variant primary progressive aphasia, in which it is seen 86% to 90% of the time.** Of cases of corticobasal syndrome, 15% to 54% have Alzheimer pathology.

Answer 87

D)x. The three most common mutations associated with familial frontotemporal lobar degeneration are in the C9orf72 gene, the microtubule associated protein tau (MAPT) gene, and the progranulin (GRN) gene.

Answer 88

C)x. The others: AD.

Answer 89

C)x. **Except for genetic tests** in patients with familial forms of behavioral variant frontotemporal dementia,** it is not possible to accurately predict the underlying proteinopathy in anyone with behavioral variant frontotemporal dementia.**

Answer 90

B)x. **GBA is the most common genetic risk factor for Parkinson disease, present in 5% to 15% of patients. Patients with this mutation are more likely to experience nonmotor symptoms, including cognitive impairment, than patients with sporadic Parkinson disease.**

Answer 91

E)x. Tip: one-year rule.

Answer 92

E)x. Although executive dysfunction is common in both disorders, **verbal fluency is particularly impaired in progressive supranuclear palsy, with lexical fluency generally more impaired than semantic fluency.** Verbal fluency **distinguishes the two disorders with an 85% sensitivity and specificity when fewer than seven words are produced in 1 minute.**

Answer 93

C)x. Gradient recalled echo (GRE) or SWI sequences are ideal for evaluating for the presence of microbleeds.

Answer 94

C)x. This patient’s imaging findings and family history suggesting a disorder transmitted by an autosomal dominant mutation are strongly suggestive of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is associated with mutations in the notch receptor 3 (NOTCH3) gene.

Answer 95

C)x. Although trial results have been inconsistent, several studies showed some cognitive improvement in patients with vascular dementia treated with acetylcholinesterase inhibitors, and donepezil is considered to be of modest cognitive benefit for such patients.

Answer 96

A)x. **The Trail Making Test Part A**, which asks the patient to count from 1 to 25, **tests attention and specifically processing speed**. In Part B of the Trail Making Test, the patient is asked to alternate between numbers and letters progressively up to the letter L and the number 13. In addition to testing attention, **Part B requires working memory and executive function**.

Answer 97

B)x. On neuropsychologic testing, the patient demonstrates difficulties with both episodic memory and language, with deficiencies in language not picked up on the Montreal Cognitive Assessment (MoCA). Given that the patient can perform all activities of daily living and multiple cognitive domains are affected, the most likely clinical diagnosis is mild cognitive impairment, amnestic multidomain. Despite the MoCA score that falls within the normal range, the patient’s results on neuropsychological testing suggest a decline from a prior level of functioning, and, in the absence of laboratory abnormalities, a neurodegenerative disorder rather than normal aging is suggested.

Answer 98

E)x. Accurately assessing episodic memory in a patient with aphasia is challenging but crucial to help differentiate between an amnestic dementia syndrome and the clinical syndrome of primary progressive aphasia. The Three Words–Three Shapes test compares verbal and nonverbal memory in the visual modality and can help neuropsychologists determine whether nonverbal visual memory is impaired, which would indicate deficits in episodic memory not related to aphasia.

Answer 99

A)x. Reduced binding of ioflupane I 123 in the basal ganglia on a dopamine transporter scan can occur in Parkinson disease, dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy, and corticobasal degeneration. It would be atypical of Alzheimer disease.

Answer 100

B)X. The cerebellum is the region most commonly used as the standardized uptake value ratio with a reference region for quantitative analysis of brain amyloid positron emission tomography (PET) scans **because the cerebellar gray matter has very low amyloid-β and the cerebellar white matter has none**.

Answer 101

D)x. Although 14-3-3 protein testing has been used for years to aid in the diagnosis of Creutzfeldt-Jakob disease, the real-time quakinginduced conversion assay is both more sensitive and more specific.

Answer 102

E)x. Given the positive CSF biomarker results for Alzheimer disease, an amyloid positron emission tomography (PET) scan is not needed

Answer 103

A)x. **Rapid eye movement (REM) sleep behavior disorder, Parkinson disease, dementia with Lewy bodies, and multiple system atrophy are all synucleinopathies.** Real-time quaking-induced conversion assays that detect misfolded α-synuclein have been developed and may soon aid in the diagnosis of these disorders

Answer 104

D)x. Accumulation of abnormally phosphorylated tau protein occurs in patients with progressive supranuclear palsy, corticobasal degeneration, and Pick disease, and in some patients with frontotemporal dementia

Answer 105

B)x. The current criteria for pathologic diagnosis of Alzheimer disease are based on amyloid stage, neuritic plaque stage, and neurofibrillary tangle stage. (Antigamente eram necessários os critérios clínicos e a idade para se fechar o diagnóstico).

Answer 106

D)x. **A large proportion of older patients with an amnestic syndrome and hippocampal atrophy without amyloid or tau biomarkers have LATE.** **More than 90% of cases of hippocampal sclerosis of aging are associated with LATE.** **Stage 1: amigdala -> no evidence of cognitive impairment; Stage 2: córtices entorrinal e denteado + hipocampo -> início da clínica; Stage 3: neocórtex.** **Other domains of cognitive function are also involved, especially language. Many individuals with LATE also have brain atrophy, especially significant and accelerated atrophy of the hippocampus.**

Answer 107

D)x. The medium spiny neurons of the striatum are particularly affected by Huntington disease, and striatal pathology can be graded based on the extent of gliosis and loss of these cells.

Answer 108

C)x. Accounting for 50% to 75% of all cases.

Answer 109

D)x. A number of potential consequences may result from an asymptomatic individual receiving a positive genetic test for a disorder, which can include feelings of shock, depression, and anxiety. A positive test may have practical implications as well, as it can affect life insurance, disability insurance, and long-term care insurance. The Genetic Information Nondiscrimination Act (GINA) of 2008 protects patients from insurers denying health insurance to individuals with positive genetic testing results and protects individuals from employment discrimination.

Answer 110

C)x. **Genome-wide association studies identify genomic regions that are significantly associated with the disease, not the specific genes within that region that are implicated.** One significant limitation of genome-wide association studies data is that a relative lack of studies have been conducted in people other than the non-Hispanic White population.

Answer 111

D)x. By 2060, the percentage of Asian older adults (≥65 years) is expected to increase to 9% (compared to 4% in 2016), the percentage of Black older adults (≥65 years) is expected to increase to 12% (compared to 3% in 2016), the percentage of Hispanic older adults (≥65 years) is expected to increase to 22% (compared to 8% in 2016), and the percentage of non-Hispanic White older adults (≥65 years) is expected to decrease to 55% (compared to 78% in 2016).

Answer 112

D)x. Epidemiologic studies indicate that Black and American Indian/Alaska Native people have the highest risk of Alzheimer disease and related dementias compared to non-Hispanic White people, and Hispanic people have an intermediate risk.

Answer 113

E)x. Given the patient’s severe Alzheimer disease, she may not be able to communicate that she is in pain. As the symptoms started shortly after she fell out of bed, it is prudent to look for any injury that may have occurred from the fall.

Answer 114

D)x. According to a recent study, a greater area deprivation index (indicating more disadvantage), was related to neuropathologic Alzheimer disease with 2.18 greater odds for people living in the highest decile of area deprivation index.

Answer 115

C)x. Side effects of acetylcholinesterase inhibitors include bradycardia, gastrointestinal symptoms, and vivid dreams.

Answer 116

D)x. In a person with rapidly progressive dementia, the presence of a midline-crossing splenial lesion is suggestive of glioblastoma, lymphoma, or progressive multifocal leukoencephalopathy.

Continuum - Questões Flashcards

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