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Five patients (84%) had red-ragged fibers and phantom fibers in the Cox stain in the muscle biopsy. Four patients (67%) had presence of 3243A>G mutation in the mitochondrial MT-TL1 gene. One patient died because of status epilepticus.
MELAS syndrome represents a common diagnostic challenge for clinicians, often delaying definitive diagnosis. It should be suspected in young patients with stroke of undetermined etiology associated with other systemic and neurological features.
MELAS syndrome represents a common diagnostic challenge for clinicians, often delaying definitive diagnosis. It should be suspected in young patients with stroke of undetermined etiology associated with other systemic and neurological features.
High-dose chemotherapy followed by autologous stem cell transplantation (HD-ASCT) is a promising alternative to whole brain radiation therapy (WBRT) in the treatment of primary central nervous system lymphoma (PCNSL). The objective of this study was to critically assess current evidence supporting the use of HD-ASCT as first-line consolidative therapy in PCNSL.
The objective was addressed through the development of a critically appraised topic that included a clinical scenario, structured question, literature search strategy, critical appraisal, assessment of results, evidence summary, commentary, and bottom-line conclusions. Participants included consultant and resident neurologists, a medical librarian, clinical epidemiologists, and a content expert in the field of neuro-oncology.
A recent, open-label, noncomparative randomized phase II trial was selected for critical appraisal. This trial evaluated the efficacy and toxicity of consolidative therapy with HD-ASCT and WBRT in PCNSL in 2 separate treatment arms. A total of 140 patients with newly diagnosed PCNSL between the ages of 18 and 60 years were included. The primary endpoint of 2-year progression-free survival was met in 63% of patients in the WBRT arm and 87% in the HD-ASCT arm. Notably, an overall improvement in neurocognitive scores was observed following HD-ASCT, while WBRT was associated with worsened cognitive outcomes.
In young patients with newly diagnosed PCNSL, consolidative therapy with HD-ASCT appears to be associated with less neurocognitive toxicity and may be more effective than WBRT at preventing relapses, however, at the cost of a higher treatment-related mortality.
In young patients with newly diagnosed PCNSL, consolidative therapy with HD-ASCT appears to be associated with less neurocognitive toxicity and may be more effective than WBRT at preventing relapses, however, at the cost of a higher treatment-related mortality.
Traditionally, spontaneous cervical artery dissections have been associated with violent, sudden neck movements. These events are a significant cause of stroke related morbidity, particularly in young people. Only a handful of cases of golf-induced vertebral artery dissection (VAD) have been described, and the discussion has primarily focused on middle-aged men. Despite the discussion focused on this demographic, women are participating in golf at higher rates than ever before, and have a higher risk for developing VAD.
A 41-year-old woman presented to our hospital with sharp neck pain, dizziness, and ptosis after swinging a driver during a morning round of golf. Imaging demonstrated a right V3/V4 VAD and subsequent ischemic infarction. After administration of tissue plasminogen activator she had abrupt change in mental status with seizure-like activity. She underwent angiogram and mechanical thrombectomy, and was started in heparin 24 hours post-tissue plasminogen activator. This was subsequently changed to low-dose aspirin following thalamic petechial hemorrhage. She was discharged from the hospital after a few days with only minor deficits. We will discuss mechanism, treatment, and outcomes of VAD in context of this case.
This patient is the first woman in the literature to suffer from VAD as a result of playing golf. The twisting motion of the head and neck in a golf swing may be a risk factor for dissection and subsequent development of stroke. As a result of increased female participation in golf, we expect to see increased incidence of women presenting with "golfer's stroke" in coming years.
This patient is the first woman in the literature to suffer from VAD as a result of playing golf. The twisting motion of the head and neck in a golf swing may be a risk factor for dissection and subsequent development of stroke. As a result of increased female participation in golf, we expect to see increased incidence of women presenting with "golfer's stroke" in coming years.
We sought to determine the incidence of Fabry disease (FD) in young cryptogenic stroke patients who lived in the City of Edirne, Turkey, and to define the clinical features helping to recognize patients with FD.
Acute ischemic stroke patients aged 18 to 55 years who were admitted to our hospital between January 2017 and September 2019 were evaluated for inclusion. Androgen Receptor activity The screening was performed for α-galactosidase A activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low-plasma α-galactosidase A activity.
Two proband cases were detected. The first proband patient was identified as having a 427G>A (rs 104894845) (p.A143T) hemizygous mutation along with his family; 3 patients were identified as having the same hemizygous mutation; and 6 patients were identified as having the same heterozygous mutations. The second proband patient was identified as having a c.352C>T (rs 148158093) (p.R118C) heterozygote mutation along with her family; 5 patients were identified as having the same heterozygote mutation; and 1 patient was identified as having the same hemizygous mutation. Our study identified the FD incidence as 3.27%.
This research is just one of a few studies conducted on FD screening studies in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients, as it is a rare but potentially treatable entity.
This research is just one of a few studies conducted on FD screening studies in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients, as it is a rare but potentially treatable entity.