ORCID Profile
0000-0003-1180-7929
Current Organisations
University of Western Australia
,
Royal Perth Hospital
,
Centro Hospitalar do Porto
,
St John of God Health Care
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Publications
Immune‐mediated neuromuscular complications of graft‐versus‐host disease
Publisher: Wiley
Date: 12-03-2021
DOI: 10.1002/MUS.27214
Abstract: We aimed to describe the clinical phenotype, histopathological findings and overall survival (OS) of the immune‐mediated neuromuscular complications of graft‐versus‐host disease (GVHD). We conducted a retrospective chart review of adult patients presenting with immune‐mediated neuromuscular complications of GVHD to Mayo Clinic, between April 2013 and July 2018.We collected clinical and laboratory characteristics, histopathological findings, response to treatment and survival data. We identified 20 patients with a mean age at presentation of 55 y. Mean time from transplant to neurological presentation was 14 mo. Myositis was the most common complication seen in 17 patients, manifesting with predominantly axial and/or proximal weakness. Eleven patients had a muscle biopsy showing diffuse perimysial, predominantly macrophagic infiltration in 10, 3 of them with perimysial perivascular lymphocytic collections, and endomysial and perimysial lymphocytic infiltration in 1. Only two patients had a neuropathic complication: one each with acute inflammatory demyelinating polyradiculoneuropathy and neuralgic amyotrophy. A single patient had a myasthenic syndrome presenting with fluctuating foot drop. Nineteen patients were treated and all responded to immunosuppressive agents however, 11 had further GVHD flares requiring escalation of therapy. After a median follow‐up of 83 mo, seven (35%) patients died: five from progressive GVHD and two from infections. The 5‐y OS from time of transplant was 68%. Myositis is the most common immune‐mediated neuromuscular complication of GVHD while peripheral neuropathy and myasthenic syndromes appear less common. The macrophage‐predominant infiltration on muscle biopsy deserves further study to better clarify the role of macrophages in GVHD pathogenesis.
Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort
Publisher: Wiley
Date: 25-01-2022
DOI: 10.1002/MUS.27493
Abstract: The full spectrum of the clinical phenotype of facioscapulohumeral muscular dystrophy (FSHD), beyond skeletal muscle weakness, remains poorly characterized. In this study, we describe systemic manifestations and symptom burden in a large series of FSHD patients. We performed a retrospective chart review of FSHD patients seen at our institution between 2000 and 2017. We reviewed patients' responses to a comprehensive review of symptoms and the results of diagnostic testing for sensorineural hearing loss, cardiac disease, dysphagia, ocular abnormalities, and respiratory insufficiency. We assessed the association between disease manifestations and age of onset, genetic profile, and disease duration. We identified 87 patients with FSHD. The most common reported symptoms included pain (71%), difficulty sleeping (41%), headaches (27%), and altered mood (24%). When tested, 7 of 16 (44%) patients had sensorineural hearing loss, 20 of 60 (33%) had cardiac arrhythmias or conduction defects, 17 of 45 (38%) had echocardiogram abnormalities, 12 of 25 (48%) had reduced forced vital capacity, and 4 of 10 (40%) had oropharyngeal dysphagia. However, patients with these abnormalities represented 8%, 23%, 20%, 14%, and 5% of total number of patients, respectively, as uniform screening was lacking. Ocular pathology attributable to FSHD was not detected. FSHD demonstrates a broad clinical phenotype. Increased vigilance among neurologists to screen for systemic manifestations of the disease is warranted. More uniform screening and future population‐based studies are needed to compare findings in FSHD patients with the general population.
Ischiofemoral impingement syndrome provoked by labor: An unusual case of complete sciatic mononeuropathy
Publisher: SAGE Publications
Date: 18-06-2023
DOI: 10.1177/19714009221109895
Abstract: Peripheral neuropathies are a recognized complication of labor in the post-partum period. Herein, we describe an uncommon presentation of sciatic mononeuropathy due to ischiofemoral impingement during labor. A 29-year-old, gravida 4 para 2, female presented post-partum with acute left lower limb paresthesia and left foot drop, following spontaneous vaginal delivery of twins. Neurological examination demonstrated no activation of the left sciatic-innervated muscles and sensory loss in the same distribution. Electromyography (EMG) demonstrated an acute complete left sciatic mononeuropathy. MRI of the lumbosacral plexus and sciatic nerve showed a narrowed quadratus femoris space with mild edema of the muscle, consistent with ischiofemoral impingement syndrome. In addition, there was flattening of the sciatic nerve as it passed through the ischiofemoral space. She was treated conservatively, and at 7-month follow-up, there was marked improvement in muscle strength with ongoing sensory impairment. Repeat EMG demonstrated reinnervation in all sciatic-innervated muscles. This case highlights the risk of a sciatic mononeuropathy secondary to ischiofemoral impingement in the peripartum setting. Future studies are needed to determine if women with a narrow ischiofemoral space at baseline are at increased risk for peripheral nerve injury during labor.
Acute seizures and status epilepticus in immune effector cell associated neurotoxicity syndrome (ICANS)
Publisher: Springer Science and Business Media LLC
Date: 13-04-2022
Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome
Publisher: Frontiers Media SA
Date: 20-12-2019
Mechanical thrombectomy for anterior circulation stroke: 5-year experience in a statewide service with differences in pretreatment time metrics across two hospitals sites
Publisher: BMJ
Date: 09-05-2016
DOI: 10.1136/NEURINTSURG-2016-012304
Abstract: To audit our institutional mechanical thrombectomy (MT) outcomes for acute anterior circulation stroke and examine the influence of workflow time metrics on patient outcomes. A database of 100 MT cases was maintained throughout May 2010—February 2015 as part of a statewide service provided across two tertiary hospitals (H1 and H2). Patient demographics, stroke and procedural details, blinded angiographic outcomes, and 90-day modified Rankin Scale (mRS) scores were recorded. The following time points in stroke treatment were recorded: stroke onset, hospital presentation, CT imaging, arteriotomy, and recanalization. Statistical analysis of outcomes, predictors of outcome, and differences between the hospitals was carried out. Thrombolysis in Cerebral Infarction (TICI) 2b/3 reperfusion was 79%. Forty-nine per cent of patients had good clinical outcomes (mRS 0–2). In a subgroup analysis of 76 patients with premorbid mRS 0–1 and first CT performed ≤4.5 h after stroke onset, 60% had good clinical outcomes. Patient and disease characteristics were matched between the two hospitals. H1 had shorter times between hospital presentation and CT (32 vs 55 min, p=0.01), CT and arteriotomy (33 vs 69 min, p=0.00), and stroke onset and recanalization (198 vs 260 min, p=0.00). These time metrics independently predicted good clinical outcome. Median days spent at home in the first 90 days was greater at H1 (61 vs 8, p=0.04) than at H2. A greater proportion of patients treated at H1 were independent (mRS 0–2) at 90 days (54% vs 42%) however, this was not statistically significant (p=0.22). Outcomes similar to randomized controlled trials are attainable in ‘real-world’ settings. Workflow time metrics were independent predictors of clinical outcome, and differed between the two hospitals owing to site-specific organizational differences.
Related Organisations
Related Funding Activities
No related grants have been discovered for Jacqui-Lyn Saw.