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To elucidate the host genetic loci affecting severity of SARS-CoV-2 infection, or Coronavirus disease 2019 (COVID-19), is an emerging issue in the face of the current devastating pandemic. Here, we report a genome-wide association study (GWAS) of COVID-19 in a Japanese population led by the Japan COVID-19 Task Force, as one of the initial discovery GWAS studies performed on a non-European population. Enrolling a total of 2,393 cases and 3,289 controls, we not only replicated previously reported COVID-19 risk variants (e.g., LZTFL1, FOXP4, ABO, and IFNAR2), but also found a variant on 5q35 (rs60200309-A at DOCK2) that was associated with severe COVID-19 in younger (<65 years of age) patients with a genome-wide significant p-value of 1.2 x 10-8 (odds ratio = 2.01, 95% confidence interval = 1.58-2.55). This risk allele was prevalent in East Asians, including Japanese (minor allele frequency [MAF] = 0.097), but rarely found in Europeans. Cross-population Mendelian randomization analysis made a causal inference of a number of complex human traits on COVID-19. In particular, obesity had a significant impact on severe COVID-19. The presence of the population-specific risk allele underscores the need of non-European studies of COVID-19 host genetics.
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Introduction: Brachiocephalic artery stenosis rarely causes right hemispheric infarction with associated left hemiparesis. To date, there have been no reported cases of stroke associated with brachiocephalic artery stenosis that were successfully treated with recombinant tissue-type plasminogen activator (rt-PA), alteplase.Case Report: An 80-year-old woman presented with left hemiparesis. Brain computed tomography showed no hemorrhage, and computed tomography angiography demonstrated brachiocephalic artery stenosis. Alteplase was administered based on a diagnosis of ischemic stroke. Brain magnetic resonance imaging showed multiple acute infarctions. Thereafter, the blood pressure of the right arm was found to be lower than that of the left arm. The patient’s neurological deficits gradually improved; she was eventually able to walk again and was thus discharged home.Conclusion: While the combination of left hemiparesis and a decrease in blood pressure in the right arm are well known in patients with stroke associated with Stanford type A aortic dissections, it may also occur in patients with stroke due to brachiocephalic artery stenosis. Unlike stroke associated with Stanford type A aortic dissections, stroke due to brachiocephalic artery stenosis may be treated with alteplase.
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The Trail Making Test (TMT) is a widely used measure of attention impairment. The time needed to complete the TMT (TMT score) is longer with greater impairment of attention in patients with brain diseases. TMT score becomes large in a proportion of patients with minor ischemic stroke. The Japanese version of the TMT- (TMT-J) was published in 2019. The purpose of this study was to clarify serial changes in TMT-J scores in patients with minor ischemic stroke. We retrospectively reviewed the TMT-J scores in those patients who completed the test both 8-14 days and 29-35 days after stroke onset. On initial evaluation, 1 of 21 patients could not complete TMT-J Part A. TMT-J Part A scores had a mean of 67 s and were abnormally large in 45% of the 20 patients who completed this part. Two of these 20 patients could not complete TMT-J Part B. TMT-J Part B scores had a mean of 135 s and were abnormally large in 61% of the 18 patients who completed this part. On second evaluation, scores on Part A and Part B improved in 76% and 73% of patients, respectively. This study demonstrated that abnormal TMT-J scores 8-14 days after onset of minor ischemic stroke improved over time in most patients.
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Background: Although acute pancreatitis is listed among the exclusion criteria for the administration of recombinant tissue plasminogen activator according to the Japanese Guideline for the Management of Stroke, the co-occurrence of acute pancreatitis and acute ischemic stroke has not been investigated. The present study aimed to assess the incidence rate of acute pancreatitis in patients with acute ischemic stroke.Methods: This study consecutively enrolled all patients with ischemic stroke admitted to the Department of Neurology, JA Toride Medical Center between April 2014 and March 2016. Diagnosis of acute pancreatitis was made according to the revised Atlanta Classification of Acute Pancreatitis. We retrospectively analyzed serum amylase activity and the frequency of acute pancreatitis as a comorbidity of ischemic stroke.Results: A total of 411 ischemic stroke patients were included. Serum amylase activity was measured for 364 patients, 27 of whom presented with amylase activity exceeding the upper limit of normal. In two patients with serum amylase activity greater than three times-fold the upper limit of normal, computed tomography or transabdominal ultrasonography showed no characteristic findings of acute pancreatitis. No patient in the cohort met the diagnostic criteria for acute pancreatitis.Conclusions: Acute pancreatitis is a very rare comorbidity of acute ischemic stroke.
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A 77-year-old woman was admitted to our hospital because of low-grade fever and lightheadedness 7 days after the removal of a carious broken tooth. Neurological examination revealed disturbed consciousness and meningeal sign with mild ophthalmoplegia. Cerebrospinal fluid examination showed elevated levels of polymorphonuclear cells and enhanced magnetic resonance imaging revealed a left masticator space abscess. On the basis of these findings, the diagnosis was meningitis complicated by a masticator space abscess. Although her symptoms were ameliorated after the administration of antibiotics, her consciousness deteriorated accompanied by bilateral total ophthalmoplegia. Enhanced head computed tomography revealed a filling defect of the superior orbital veins with enhancement of the cavernous sinus, suggesting cavernous sinus thrombosis. After the addition of anticoagulants to antibiotic therapy and surgical drainage of the abscess, she recovered without residual neurological impairment. Because cavernous sinus thrombosis is potentially life-threatening, early diagnosis and initiation of appropriate therapy are extremely important.
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We report a patient with unilateral midbrain hemorrhage which caused ipsilateral complete oculomotor nerve palsy with pupillary involvement, contralateral upgaze paresis, contralateral limb ataxia and Parinaud’s syndrome. CT scan and MRI brain demonstrated a hemorrhage in the left paramedian midbrain probably involving the oculomotor fascicles; extension of the hemorrhage to the most rostral midbrain may have involved the pupillary fi bers. It was previously thought that a lesion in the superior colliculus, surrounding nuclei (Darkschewitsch and Cajal nuclei), and the posterior commissure (i.e. dorsal midbrain) were responsible for clinical fi ndings similar to those found in our patient, but our patient showed a hemorrhagic lesion in the left ventral midbrain which did not extend to dorsal midbrain. We propose that the responsible lesion in our patient might involve the rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF).
