Subject(s)
Carotid Artery, Internal, Dissection/complications , Carotid Artery, Internal, Dissection/diagnostic imaging , Cranial Nerve Diseases/etiology , Horner Syndrome/etiology , Hypertension/etiology , Anticoagulants/therapeutic use , Antihypertensive Agents/therapeutic use , Carotid Artery, Internal , Carotid Artery, Internal, Dissection/drug therapy , Computed Tomography Angiography , Cranial Nerve Diseases/diagnosis , Horner Syndrome/diagnosis , Humans , Hypertension/drug therapy , Male , Middle AgedABSTRACT
Mutations of PYGM, the gene encoding human myophosphorylase, produce a metabolic myopathy characterised by exercise intolerance and, in some patients, myoglobinuria. To illustrate the clinical and laboratory features of myophosphorylase deficiency, we describe 10 patients diagnosed in Auckland, New Zealand, between 1989 and 2009. We review the clinical, biochemical, and histologic features and the results of mutation analysis. All patients reported exercise intolerance since childhood or the teenage years, starting within minutes of moderate or intense exertion. The "second wind" phenomenon, or myoglobinuria, were each reported in about half the patients. The serum creatine kinase concentration was elevated in all patients where this had been measured. Muscle biopsies revealed subsarcolemmal vacuolation and histochemical absence of myophosphorylase. Analysis of PYGM showed mutations in all alleles, most commonly Arg49Ter or Gly204Ser. One patient harbored a novel mutation, Pro488Arg, predicted to seriously disrupt the tertiary structure of the enzyme. Myophosphorylase deficiency produces a fairly uniform set of symptoms, and consistent elevation of the serum creatine kinase concentration. The diagnosis can be confirmed in most patients by mutation analysis using a blood sample.
Subject(s)
Creatine Kinase/blood , Glycogen Phosphorylase, Muscle Form/deficiency , Glycogen Storage Disease Type V/metabolism , Glycogen Storage Disease Type V/therapy , Adolescent , Adult , Amino Acids/genetics , DNA Mutational Analysis , Female , Glycogen Phosphorylase/genetics , Glycogen Storage Disease Type V/diagnosis , Glycogen Storage Disease Type V/genetics , Humans , Male , Middle Aged , Muscle, Skeletal/pathology , Mutation/genetics , Retrospective Studies , Young AdultABSTRACT
BACKGROUND AND PURPOSE: Patients with stroke unsuitable for IV thrombolysis may be considered for endovascular revascularization, particularly when baseline imaging suggests proximal cerebral vessel occlusion associated with minimal established infarction. This retrospective review describes the use of a self-expanding retrievable intracranial stent (Solitaire AB) for thrombectomy in acute ischemic stroke. MATERIALS AND METHODS: Twenty-six consecutive patients with stroke treated endovascularly by using the Solitaire stent were identified, followed by detailed review of data extracted from their imaging and clinical records. RESULTS: Recanalization (TIMI grade ≥2) was achieved with Solitaire thrombectomy as the single treatment technique in 16 patients and in combination with urokinase or the Penumbra device in 9 of the remaining 10 patients. Two patients had symptomatic intracranial hemorrhage. A favorable clinical outcome (mRS score of ≤2) was seen in 3 of 5 patients with MCA occlusion, 6 of 11 (55%) patients with ICA occlusion, and 2 of 10 patients with BA occlusion. CONCLUSIONS: Mechanical thrombectomy by using the Solitaire stent appears to be safe and is capable of achieving a high rate of recanalization and favorable clinical outcomes in patients presenting with proximal cerebral vessel occlusion.
Subject(s)
Blood Vessel Prosthesis , Infarction, Middle Cerebral Artery/surgery , Stents , Thrombectomy/instrumentation , Aged , Female , Humans , Infarction, Middle Cerebral Artery/diagnosis , Male , Middle Aged , Retrospective Studies , Treatment OutcomeABSTRACT
BACKGROUND: Tenecteplase is a modified tissue plasminogen activator with a longer half-life and higher fibrin specificity than alteplase. METHODS: We conducted a prospective, nonrandomized, pilot study of 0.1 mg/kg IV tenecteplase given 3 to 6 hours after ischemic stroke onset. For a control group, we used patients contemporaneously treated with sub-3-hour 0.9 mg/kg IV alteplase following standard selection criteria. All patients underwent pretreatment and 24-hour perfusion/angiographic imaging with CT or MRI. Eligibility criteria for tenecteplase (but not alteplase) treatment included a perfusion lesion at least 20% greater than the infarct core, with an associated vessel occlusion. Primary outcomes, assessed blind to treatment group, were reperfusion (reduction in baseline-24-hour mean transit time lesion) and major vessel recanalization. RESULTS: Fifteen patients received tenecteplase, and 35 patients received alteplase. The tenecteplase group had greater reperfusion (mean 74% vs 44% in the alteplase group, p = 0.01) and major vessel recanalization (10/15 tenecteplase vs 7/29 alteplase, p = 0.01). Despite later time to treatment, more tenecteplase patients (10/15 vs 7/35 alteplase, p = 0.001) had major neurologic improvement at 24 hours (NIH Stroke Scale reduction > or = 8). Four of the alteplase patients and none of the tenecteplase patients had parenchymal hematoma at 24 hours. CONCLUSIONS: Tenecteplase 0.1 mg/kg, using advanced imaging guidance in an extended time window, may have significant biologic efficacy in acute ischemic stroke. The imaging selection differences between the tenecteplase and alteplase groups prevent a conclusive efficacy comparison. Nonetheless, these results lend support for randomized trials comparing tenecteplase with alteplase, preferably incorporating penumbral/angiographic imaging selection.
