Imaging Pattern and Outcome of Stroke in Patients With Systemic Lupus Erythematosus: A Case-control Study.

OBJECTIVE: To evaluate the outcome of stroke in patients with systemic lupus erythematosus (SLE). METHODS: Patients who fulfilled ≥ 4 American College of Rheumatology criteria for SLE and had a history of stroke from 1997 to 2017 were identified. The functional outcome of stroke [assessed by the modified Rankin Scale (mRS) at 90 days], mortality, stroke complications, and recurrence were retrospectively studied and compared with matched non-SLE patients with stroke. RESULTS: Forty SLE patients and 120 non-SLE patients with stroke (age at stroke 44.7 ± 13.7 yrs, 87.5% women) were studied. Ischemic type of stroke (90% vs 63%, P = 0.001) and extensive infarction (69.4% vs 18.7%, P < 0.001) were more common in SLE than non-SLE patients. Border zone infarct and multiple infarcts on imaging were significantly more prevalent in SLE patients. Patients with SLE were more functionally dependent than controls at 90 days poststroke. Logistic regression showed that SLE was significantly associated with a poor stroke functional outcome independent of age, sex, past stroke, atherosclerotic risk factors, and the severity of stroke (OR 5.4, 95% CI 1.1-26.0, P = 0.035). Stroke mortality at 30 days was nonsignificantly higher in SLE than non-SLE patients, but all-cause mortality (37.5% compared to 8.3%, P < 0.001), recurrence of stroke (30% compared to 9.2%, P = 0.002), and poststroke seizure (22.5% compared to 3.3%, P = 0.001) were significantly more common in SLE patients after an observation of 8.4 ± 6.1 years. SLE was independently associated with all-cause mortality and stroke recurrence over time. CONCLUSIONS: Stroke in patients with SLE is associated with a poorer outcome than matched controls in terms of functional recovery, recurrence, and mortality.

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected. Twenty-six patients were symptomatic when diagnosed; four patients died of pneumonia and/or respiratory failure. Abnormal amorphous material or granulofilamentous masses were detected in half of the cases, with mitochondrial abnormalities noted in two-thirds. We also show by haplotype analysis the founder effect associated with this Hong Kong variant, which might have occurred 42 to 71 generations ago or around Tang and Song dynasties, and underlain a higher incidence of myofibrillar myopathy among Hong Kong Chinese. The late-onset nature and slowly progressive course of the highly penetrant condition could have significant impact on the family members, and an early diagnosis could benefit the whole family. Considering another neighboring founder variant in FLNC in German patients, we advocate development of specific therapies such as chaperone-based or antisense oligonucleotide strategies for this particular type of myopathy.

Concurrent stenoses: A common etiology of stroke in Asians.

Atherosclerosis of cerebral vessels is a common cause of stroke. Racial differences in the distribution of cerebrovascular occlusive disease are well documented. Extracranial stenosis is more common in Caucasians, while intracranial stenosis is more common in Asians, Hispanics and African-Americans. Concurrent atherosclerosis of extracranial and intracranial vessels is common in Asians. The incidence of concurrent stenoses ranges from 10% to 48% in patients with symptomatic cerebrovascular disease. The long-term prognosis of these patients is poor and they are at high risk of further vascular events or death. The purpose of this review is to examine the epidemiology, risk factors, stroke mechanism and genetics of concurrent stenoses and to discuss strategies for treatment.

The first report of a Chinese family with McLeod syndrome.

We report the first case of a Chinese family with McLeod syndrome (MLS). The two affected brothers show significant phenotypic heterogeneity. The index case has peripheral acanthocytosis, choreoathetosis of his feet, a slowly progressive neuropathy and myopathy, and an elevated serum creatine kinase (CK) level. His elder brother has more prominent chorea of the shoulders, epilepsy, a rapidly progressive neuropathy and normal serum CK. The diagnosis of MLS was confirmed by a genetic test which showed a hemizygous frameshift mutation in the XK gene.

Neuro-ophthalmologic manifestations of systemic lupus erythematosus: a systematic review.

Herein we summarize the clinical presentation, treatment and outcome of neuro-ophthalmologic manifestations in patients with systemic lupus erythematosus (SLE). We performed a systematic review of the neuro-ophthalmologic manifestations of SLE reported in the English literature from 1970 to 2010 by a Medline search. The prevalence of neuro-ophthalmologic manifestations is 3.6% in adult and 1.6% in childhood SLE patients. Neuro-ophthalmologic manifestations of SLE are highly variable, with the commonest presentation being optic neuritis, followed by myasthenia gravis, visual field defects and pseudotumor cerebri. The underlying pathology was thought to be either SLE activity or its vascular complications. Most neuro-ophthalmologic manifestations of SLE are responsive to high-dose glucocorticoids. Anticoagulation is indicated when there is concomitant antiphospholipid syndrome. SLE-related neuromyelitis optica is often refractory to treatment and 92% of patients require multiple immunosuppressive protocols. Neuro-ophthalmologic manifestations of SLE are uncommon but heterogeneous. The prognosis of neuro-ophthalmologic manifestations in SLE is generally good because of their rapid response to glucocorticoids. Relapses of these manifestations may be reduced by the use of maintenance immunosuppression. Cyclophosphamide, azathioprine, plasmapheresis, intravenous immunoglobulin and rituximab can be considered in glucocorticoid-dependent or refractory cases. Anticoagulation is indicated when there is concomitant antiphospholipid syndrome.