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1.
Article | WPRIM | ID: wpr-834303

ABSTRACT

Background and Objectives@#Stem cell therapy is a promising strategy for treating neurological diseases but its effectiveness is influenced by the route of administration and the characteristics of the stem cells. We determined whether neural induction of mesenchymal stem cells (MSCs) was beneficial when the cells were delivered intra-arterially through the carotid artery. @*Methods@#and Results: MSCs were neurally induced using a retroviral vector expressing the neurogenic transcription factor neurogenin-1 (Ngn1). The LacZ gene encoding bacterial β-galactosidase was used as a control. Ischemic stroke was induced by transluminal occlusion of the middle cerebral artery and 3 days later the MSCs were delivered intra- arterially through the internal carotid artery. Magnetic resonance imaging analysis indicated that compared to MSCs expressing LacZ (MSCs/LacZ), MSCs expressing Ngn1 (MSCs/Ngn1) exhibited increased recruitment to the ischemic region and populated this area for a longer duration. Immunohistochemical analysis indicated that compared to MSCs/LacZ, MSCs/Ngn1 more effectively alleviated neurological dysfunction by blocking secondary damage associated with neuronal cell death and brain inflammation. Microarray and real-time PCR analysis indicated that MSCs/Ngn1 exhibited increased expression of chemotactic cytokine receptors, adherence to endothelial cells, and migration ability. @*Conclusions@#Neural induction with Ngn1 increases the homing ability of MSCs, enhancing their engraftment efficiency in the ischemic rat brain. Intra-arterial delivery of neurally induced MSCs/Ngn1 3 days after ischemic injury blocks neuronal cell death and inflammation, and improves functional recovery. Thus, intra-arterial administration of stem cells with neural properties may be a novel therapy for the treatment of ischemic stroke.

2.
Article | WPRIM | ID: wpr-832451

ABSTRACT

Many previous studies have shown reduced glucose uptake in the ischemic brain. In contrast, in a permanent unilateral common carotid artery occlusion (UCCAO) mouse model, our pilot experiments using 18F-fluorodeoxyglucose positron emission tomography (FDG PET) revealed that a subset of mice exhibited conspicuously high uptake of glucose in the ipsilateral hemisphere at 1 week post-occlusion (asymmetric group), whereas other mice showed symmetric uptake in both hemispheres (symmetric group). Thus, we aimed to understand the discrepancy between the two groups. Cerebral blood flow and histological/metabolic changes were analyzed using laser Doppler flowmetry and immunohistochemistry/Western blotting, respectively. Contrary to the increased glucose uptake observed in the ischemic cerebral hemisphere on FDG PET (p<0.001), cerebral blood flow tended to be lower in the asymmetric group than in the symmetric group (right to left ratio [%], 36.4±21.8 vs. 58.0±24.8, p=0.059). Neuronal death was observed only in the ischemic hemisphere of the asymmetric group. In contrast, astrocytes were more activated in the asymmetric group than in the symmetric group (p<0.05). Glucose transporter-1, and monocarboxylate transporter-1 were also upregulated in the asymmetric group, compared with the symmetric group (p<0.05, respectively). These results suggest that the increased FDG uptake was associated with relatively severe ischemia, and glucose transporter-1 upregulation and astrocyte activation. Glucose metabolism may thus be a compensatory mechanism in the moderately severe ischemic brain.

4.
Neurointervention ; : 107-115, 2019.
Article in English | WPRIM | ID: wpr-760596

ABSTRACT

PURPOSE: Emergent intracranial occlusions causing acute ischemic stroke are often related to extracranial atherosclerotic stenosis. This study aimed to investigate the association between post-procedure intracerebral hemorrhage (ICH) and emergent extracranial artery stenting and assess their effects on clinical outcomes in patients with acute ischemic stroke. MATERIALS AND METHODS: We retrospectively analyzed patients undergoing hyperacute endovascular treatment for cervicocephalic vascular occlusion in three Korean hospitals between January 2011 and February 2016. Patients who had extracranial artery involvement and were treated from 24 hours of symptom onset to puncture were included in this study, and they were divided into the extracranial stenting (ES) and non-ES groups. Any type of petechial hemorrhages and parenchymal hematoma was defined as ICH for the current study. RESULTS: In total, 76 patients were included in this study. Among them, 56 patients underwent ES, and 20 patients did not. Baseline characteristics, risk factors, laboratory data, treatment methods, successful reperfusion rates, and baseline stenotic degrees of extracranial internal carotid artery did not differ between these two groups. However, atrial fibrillation was more frequent in patients without than with ES (P=0.002), and post-procedure ICH was more frequent in patients with than without ES (P=0.035). Logistic regression models revealed that ES was independently associated with post-procedure ICH (odds ratio [OR], 7.807; 95% confidence interval [CI], 1.213–50.248; P=0.031), and ICH was independently associated with poor clinical outcomes (OR, 0.202; 95% CI, 0.054–0.759; P=0.018); however, ES itself was not associated with clinical outcomes (OR, 0.530; 95% CI, 0.117–2.395; P=0.409). Notably, ICH and ES had interaction for predicting good outcomes (P=0.041). CONCLUSION: Post-procedure ICH was associated with ES and poor clinical outcomes. Therefore, ES should be cautiously considered in patients with hyperacute stroke.


Subject(s)
Arteries , Atrial Fibrillation , Carotid Artery, Internal , Carotid Stenosis , Cerebral Hemorrhage , Cerebral Infarction , Constriction, Pathologic , Endovascular Procedures , Hematoma , Hemorrhage , Humans , Logistic Models , Punctures , Reperfusion , Retrospective Studies , Risk Factors , Stents , Stroke
5.
Article in English | WPRIM | ID: wpr-765922

ABSTRACT

BACKGROUND: Acute ischemic stroke patients with malignant infarct cores were primarily treated with neurocritical care based on reperfusion and hypothermia. We evaluated the predictors for malignant progression and functional outcomes. METHODS: From January 2010 to March 2015 ischemic stroke patients with large vessel occlusion of the anterior circulation with infarct volume >82 mL on baseline diffusion weighted image (DWI) within 6 hours from onset, with National Institutes of Health Stroke Scale ≥15 were included. All patients were managed with intent for reperfusion and neurocritical care. Malignant progression was defined as clinical signs of progressive herniation. Predictive factors for malignant progression and outcomes of decompressive hemicraniectomy (DHC) were evaluated. RESULTS: In total, 49 patients were included in the study. Among them, 33 (67.3%) could be managed with neurocritical care and malignant progression was observed in the remainder. Decompressive surgery was performed in nine patients (18.4%). Factors predictive of malignant progression were initial DWI volumes (odds ratio [OR], 1.01; 95% confidence interval [CI], 1.00 to 1.02; P=0.046) and parenchymal hematoma (OR, 6.77; 95% CI, 1.50 to 30.53; P=0.013) on computed tomography taken at Day 1. Infarct volume of >210 mL predicted malignant progression with 56.3% sensitivity and 90.9% specificity. Among the malignant progressors, 77.7% resulted in grave outcomes even with DHC, while all patients who declined surgery died. CONCLUSION: Acute ischemic stroke patients with malignant cores between 82 to 209 mL can be primarily treated with neurocritical care based on reperfusion and hypothermia with feasible results. In patients undergoing surgical decompression due to malignant progression, the functional outcomes were not satisfactory.


Subject(s)
Brain Edema , Critical Care , Decompression, Surgical , Decompressive Craniectomy , Diffusion , Hematoma , Humans , Hypothermia , Hypothermia, Induced , Infarction, Middle Cerebral Artery , Reperfusion , Sensitivity and Specificity , Stroke , Thrombectomy
6.
Article in Korean | WPRIM | ID: wpr-766770

ABSTRACT

Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.


Subject(s)
Extremities , Humans , Muscle Weakness , Muscular Diseases , Mutation, Missense , Myopathies, Nemaline , Myopathies, Structural, Congenital , Respiratory Insufficiency , Ryanodine Receptor Calcium Release Channel , Tropomyosin
7.
Journal of Stroke ; : 394-403, 2018.
Article in English | WPRIM | ID: wpr-717266

ABSTRACT

BACKGROUND AND PURPOSE: Little is known about prognosis after endovascular therapy (EVT) for acute large artery occlusion (LAO) caused by underlying intracranial atherosclerotic stenosis (ICAS). Therefore, we investigated the prognosis following EVT according to the underlying etiology of LAO. METHODS: Patients from the Acute Stroke due to Intracranial Atherosclerotic occlusion and Neurointervention-Korean Retrospective (ASIAN KR) registry (n=720) were included if their occlusion was in the intracranial anterior circulation and their onset-to-puncture time was < 24 hours. Occlusion was classified according to etiology as follows: no significant stenosis after recanalization (Embolic group), and fixed significant focal stenosis in the occlusion site with flow impairment or re-occlusion observed during EVT (ICAS group). Patients were excluded when significant extracranial carotid lesions existed, and when the intracranial occlusion was intractable to EVT so that the etiology was undetermined. The effect of angiographic etiologic classification on outcomes was evaluated using multivariable analysis that was adjusted for potential confounders. RESULTS: Among eligible patients (n=520), 421 and 99 were classified in the Embolic and ICAS groups, respectively. Patients in the Embolic and ICAS groups had similar successful reperfusion rates with EVT (79.6% vs. 76.8%, P=0.537) and 3-month functional independence (54.5% vs. 45.5%, P=0.104). In multivariable analysis, ICAS-related occlusion (odds ratio, 0.495; 95% confidence interval, 0.269 to 0.913; P=0.024) showed poorer 3-month functional independence compared to embolic occlusion. CONCLUSIONS: After EVT, patients with acute ICAS-related occlusion have relatively poor functional outcomes compared to those with embolic occlusion. Novel strategies need to be developed to improve EVT outcomes for ICAS occlusion.


Subject(s)
Arteries , Atherosclerosis , Cerebral Infarction , Classification , Constriction, Pathologic , Embolism , Humans , Prognosis , Reperfusion , Retrospective Studies , Stroke , Thrombectomy , Treatment Outcome
9.
Neurointervention ; : 2-12, 2018.
Article in English | WPRIM | ID: wpr-730352

ABSTRACT

BACKGROUND AND PURPOSE: The purpose of the current study is to evaluate the influence of temporal patterns related to the availability of new endovascular treatment (EVT) devices on care processes and outcomes among patients with AIS. MATERIALS AND METHODS: We enrolled 720 consecutive patients (January 2011 to May 2016) in a retrospective registry, ASIAN KR, from three Korean hospitals, who received EVT for acute ischemic stroke (AIS) caused by cervicocephalic arterial occlusions. We performed period-to-period analyses based on stent retriever reimbursement and the availability of second-generation direct-aspiration devices (Period 1: January 2011–July 2014 vs. Period 2: August 2014–May 2016); time metrics and outcomes were compared when the onset-to-puncture time was <720 min among patients with EVT for intracranial occlusion. RESULTS: Period 2 had better post-EVT outcomes (3-month modified Rankin Scale 0–2 or equal to prestroke score, 48.3% vs. 60.2%, P=0.004), more successful reperfusion rates (modified Treatment In Cerebral Ischemia 2b–3, 74.2% vs. 82.2%, P=0.019), fewer subarachnoid hemorrhages (modified Fisher grade 3–4, 5.5% vs. 2.0%, P=0.034) and lower hemorrhagic transformation rates (any intracerebral hemorrhage, 35.3 vs. 22.7%, P=0.001) than Period 1. Compared to Period 1, Period 2 had a shorter door-to-puncture time (median 109 vs. 90 min, P<0.001), but longer onset-to-door time (129 vs. 143 min, P=0.057). CONCLUSION: Recent temporal improvements in post-EVT AIS outcomes in Korea are likely due to a combination of enhanced hospital care processes and administration of newer thrombectomy devices.


Subject(s)
Asian Continental Ancestry Group , Brain Ischemia , Cerebral Hemorrhage , Cerebral Infarction , Humans , Korea , Learning Curve , Reperfusion , Retrospective Studies , Stents , Stroke , Subarachnoid Hemorrhage , Thrombectomy , Treatment Outcome
11.
Journal of Stroke ; : 143-151, 2017.
Article in English | WPRIM | ID: wpr-72822

ABSTRACT

Intracranial atherosclerosis-related occlusion (ICAS-O) is frequently encountered at the time of endovascular revascularization treatment (ERT), especially in Asian countries. However, because baseline angiographic findings are similar between ICAS-O and embolism-related occlusion (EMB-O), it is difficult to differentiate the etiologies before the ERT procedure. Moreover, despite successful randomized trials on ERT, results from studies examining the optimal treatment protocol in ICAS-O patients remain unclear. In this review, we describe the clinical and imaging factors that may possibly differentiate ICAS-O from EMB-O. We will also discuss some current hurdles for treating ICAS-O in the hyperacute period and suggest the optimal ERT strategy for ICAS-O patients.


Subject(s)
Asian Continental Ancestry Group , Clinical Protocols , Diagnosis , Endovascular Procedures , Humans , Intracranial Arteriosclerosis , Intracranial Embolism , Intracranial Thrombosis
12.
Journal of Stroke ; : 96-101, 2016.
Article in English | WPRIM | ID: wpr-135879

ABSTRACT

BACKGROUND AND PURPOSE: The goal of stent retriever-based thrombectomy is removal of embolic clots in patients with intracranial large artery occlusion. However, outcomes of stent retrieval may differ between acute arterial occlusions due to intracranial atherosclerotic disease (IAD) and those due to embolism. This case series describes the outcomes of stent retriever-based thrombectomy and rescue treatments in 9 patients with IAD-related occlusion. METHODS: Among patients who underwent endovascular treatment for acute intracranial large artery occlusion, those in whom stent retrieval was attempted as first-line treatment were included in this review. IAD was defined as significant fixed focal stenosis at the occlusion site, which was evident on final angiographic assessment or observed during endovascular treatment. RESULTS: Median number of stent retriever passes was 2 (range, 1-3), and temporary bypass was seen in all patients. Immediate partial recanalization (arterial occlusive lesion grade 2-3) was observed in 7 patients. Immediate modified thrombolysis in cerebral infarction grade 2b-3 was seen in 6 patients, but the lesions often required rescue treatment due to reocclusion or flow insufficiency. In terms of rescue treatments, angioplasty and intra-arterial tirofiban infusion seemed to be effective. CONCLUSIONS: Our findings suggest that stent retrieval can effectively remove thrombi from stenotic lesions and achieve partial recanalization despite the tendency toward reocclusion in most patients with IAD-related occlusion. Further research into the use of rescue treatments, such as tirofiban infusion and angioplasty, is warranted.


Subject(s)
Angioplasty , Arteries , Cerebral Infarction , Constriction, Pathologic , Embolism , Humans , Intracranial Arteriosclerosis , Intracranial Embolism and Thrombosis , Mechanical Thrombolysis , Stents , Thrombectomy
13.
Journal of Stroke ; : 96-101, 2016.
Article in English | WPRIM | ID: wpr-135874

ABSTRACT

BACKGROUND AND PURPOSE: The goal of stent retriever-based thrombectomy is removal of embolic clots in patients with intracranial large artery occlusion. However, outcomes of stent retrieval may differ between acute arterial occlusions due to intracranial atherosclerotic disease (IAD) and those due to embolism. This case series describes the outcomes of stent retriever-based thrombectomy and rescue treatments in 9 patients with IAD-related occlusion. METHODS: Among patients who underwent endovascular treatment for acute intracranial large artery occlusion, those in whom stent retrieval was attempted as first-line treatment were included in this review. IAD was defined as significant fixed focal stenosis at the occlusion site, which was evident on final angiographic assessment or observed during endovascular treatment. RESULTS: Median number of stent retriever passes was 2 (range, 1-3), and temporary bypass was seen in all patients. Immediate partial recanalization (arterial occlusive lesion grade 2-3) was observed in 7 patients. Immediate modified thrombolysis in cerebral infarction grade 2b-3 was seen in 6 patients, but the lesions often required rescue treatment due to reocclusion or flow insufficiency. In terms of rescue treatments, angioplasty and intra-arterial tirofiban infusion seemed to be effective. CONCLUSIONS: Our findings suggest that stent retrieval can effectively remove thrombi from stenotic lesions and achieve partial recanalization despite the tendency toward reocclusion in most patients with IAD-related occlusion. Further research into the use of rescue treatments, such as tirofiban infusion and angioplasty, is warranted.


Subject(s)
Angioplasty , Arteries , Cerebral Infarction , Constriction, Pathologic , Embolism , Humans , Intracranial Arteriosclerosis , Intracranial Embolism and Thrombosis , Mechanical Thrombolysis , Stents , Thrombectomy
14.
Journal of Stroke ; : 179-186, 2016.
Article in English | WPRIM | ID: wpr-113530

ABSTRACT

BACKGROUND AND PURPOSE: The outcomes of acute internal carotid artery (ICA) terminus occlusions are poor. We classified ICA terminus occlusions into 2 groups according to the occlusion pattern of the circle of Willis and hypothesized that clinical outcomes would significantly differ between them. METHODS: Consecutive patients with acute ICA terminus occlusions evaluated by baseline computed tomographic angiography were enrolled. We investigated the occlusion patterns in the circle of Willis, retrospectively classified patients into simple ICA terminus occlusion (STO; with good Willisian collaterals from neighboring cerebral circulation) and complex ICA terminus occlusion (CTO; with one or more of A2 anterior cerebral artery, fetal posterior cerebral artery occlusion, or hypoplastic/absent contralateral A1; or with poor collaterals from anterior communicating artery) groups, and compared their baseline characteristics and outcomes. RESULTS: The STO group (n=58) showed smaller infarct volumes at 72 hours than the CTO group (n=34) (median, 81 mL [interquartile range, 38-192] vs. 414 mL [193-540], P<0.001) and more favorable outcomes (3-month modified Rankin Scale 0-3, 44.8% vs. 8.8%, P<0.001; 3-month mortality, 24.1% vs. 67.6%, P<0.001). In multivariable analyses, STO remained an independent predictor for favorable outcomes (odds ratio 6.1, P=0.010). CONCLUSIONS: Favorable outcomes in STO group suggested that the outcomes of acute ICA terminus occlusions depend on Willisian collateral status. Documenting the subtypes on computed tomographic angiography would help predict patient outcome.


Subject(s)
Angiography , Anterior Cerebral Artery , Carotid Artery Thrombosis , Carotid Artery, Internal , Cerebral Infarction , Circle of Willis , Collateral Circulation , Endovascular Procedures , Humans , Mortality , Posterior Cerebral Artery , Retrospective Studies
16.
Journal of Stroke ; : 67-75, 2015.
Article in English | WPRIM | ID: wpr-166385

ABSTRACT

BACKGROUND AND PURPOSE: To study the significance of intracranial artery calcification as a prognostic marker for acute ischemic stroke patients undergoing revascularization treatment after middle cerebral artery (MCA) trunk occlusion. METHODS: Patients with acute MCA trunk occlusion, who underwent intravenous and/or intra-arterial revascularization treatment, were enrolled. Intracranial artery calcification scores were calculated by counting calcified intracranial arteries among major seven arteries on computed tomographic angiography. Patients were divided into high (HCB; score > or =3) or low calcification burden (LCB; score <3) groups. Demographic, imaging, and outcome data were compared, and whether HCB is a prognostic factor was evaluated. Grave prognosis was defined as modified Rankin Scale 5-6 for this study. RESULTS: Of 80 enrolled patients, the HCB group comprised 15 patients, who were older, and more commonly had diabetes than patients in the LCB group. Initial National Institutes of Health Stroke Scale (NIHSS) scores did not differ (HCB 13.3+/-2.7 vs. LCB 14.6+/-3.8) between groups. The final good reperfusion after revascularization treatment (thrombolysis in cerebral infarction score 2b-3, HCB 66.7% vs. LCB 69.2%) was similarly achieved in both groups. However, the HCB group had significantly higher NIHSS scores at discharge (16.0+/-12.3 vs. 7.9+/-8.3), and more frequent grave outcome at 3 months (57.1% vs. 22.0%) than the LCB group. HCB was proven as an independent predictor for grave outcome at 3 months when several confounding factors were adjusted (odds ratio 4.135, 95% confidence interval, 1.045-16.359, P=0.043). CONCLUSIONS: Intracranial HCB was associated with grave prognosis in patients who have undergone revascularization for acute MCA trunk occlusion.


Subject(s)
Angiography , Arteries , Cerebral Infarction , Hexachlorobenzene , Humans , Infarction, Middle Cerebral Artery , Intracranial Embolism , Intracranial Thrombosis , Middle Cerebral Artery , Prognosis , Reperfusion , Risk Factors , Stroke , Thrombolytic Therapy , Vascular Calcification
17.
Yonsei Medical Journal ; : 700-708, 2014.
Article in English | WPRIM | ID: wpr-159383

ABSTRACT

PURPOSE: We previously reported that insulin resistance, low high-density lipoprotein (HDL) cholesterol, and glycaemic exposure Index are independently associated with peripheral neuropathy in Korean patients with type 2 diabetes mellitus. We followed the patients who participated in that study in 2006 for another 6 years to determine the relationship between insulin resistance and neuropathy. MATERIALS AND METHODS: This study involved 48 of the original 86 Korean patients with type 2 diabetes mellitus who were referred to the Neurology clinic for the assessment of diabetic neuropathy from January 2006 to December 2006. These 48 patients received management for glycaemic control and prevention of diabetic complications in the outpatient clinic up to 2012. We reviewed blood test results and the nerve conduction study findings of these patients, taken over a 6-year period. RESULTS: Low HDL cholesterol and high triglycerides significantly influenced the development of diabetic neuropathy. Kitt value (1/insulin resistance) in the previous study affected the occurrence of neuropathy, despite adequate glycaemic control with HbA1c <7%. Insulin resistance affected the development of diabetic neuropathy after 6 years: insulin resistance in 2006 showed a positive correlation with a change in sural sensory nerve action potential in 2012. CONCLUSION: Diabetic neuropathy can be affected by previous insulin resistance despite regular glycaemic control. Dyslipidaemia should be controlled in patients who show high insulin resistance because HDL cholesterol and triglycerides are strongly correlated with later development of diabetic neuropathy.


Subject(s)
Adult , Diabetes Mellitus, Type 2/metabolism , Diabetic Neuropathies/metabolism , Female , Humans , Insulin Resistance/physiology , Logistic Models , Male , Middle Aged
18.
Article in Korean | WPRIM | ID: wpr-189698

ABSTRACT

BACKGROUND: The demographics of the stroke population consist mainly of elderly patients. Transcranial Doppler is an effective method for intracranial flow detection, but can be limited due to the poor temporal window (PTW), which is frequent in the elderly. Therefore, we investigated whether the low frequency 1.6-MHz probe can be useful to improve flow detection for PTW. METHODS: All 201 participants had a history of transient ischemic attack or minor ischemic stroke. Firstly, we analyzed the success rate of recording intracranial blood flow via temporal window by using 2.0-MHz (high frequency, HF) and 1.6-MHz (low frequency, LF) probes for a maximum of 10 minutes. Secondly, mean flow velocity (MFV) and pulsatile index (PI) of insonated spectrum of 25 patients with good temporal window were compared between the two probes. RESULTS: Seventy-eight patients were female and the mean age was 64.1+/-12.4 years. Among 402 windows, 125 (31.1%) were undetected when using the 2.0-MHz probe. Fifty-five patients were detected for the spectrum by the 1.6-MHz probe. However, 70 (17.4%) still remained as PTW. Between the two probes, there were no significant differences of variables from the middle cerebral arteries: MFVs (HF 61.0+/-14.1 vs. LF 61.3+/-14.8 cm/sec, p=0.403 in the right; HF 59.6+/-13.4 vs. LF 59.3+/-13.3 cm/sec, p=0.232 in the left) and PIs (HF 0.82+/-0.17 vs. LF 0.82+/-0.18, p=0.929 in the right; HF 0.82+/-0.20 vs. LF 0.83+/-0.17, p=0.605 in the left). CONCLUSIONS: Conventional 2.0-MHz probe had relatively high proportion of PTW but 1.6-MHz probe was feasible to improve flow detection for PTW.


Subject(s)
Aged , Cerebral Arteries , Demography , Female , Humans , Ischemic Attack, Transient , Middle Cerebral Artery , Stroke , Temporal Bone , Ultrasonography, Doppler, Transcranial
19.
Article in English | WPRIM | ID: wpr-55539

ABSTRACT

BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway. CASE REPORT: A 27-year-old Korean woman presented a rapid deterioration in strength of the distal lower limbs during her first pregnancy. She was diagnosed with GNE myopathy and carrying the compound heterozygous mutations of the GNE gene (D208N/M29T). CONCLUSIONS: This is a representative case implying that an increased requirement of sialic acid during pregnancy might trigger a clinical worsening of GNE myopathy.


Subject(s)
Adult , Distal Myopathies , Female , Humans , Lifting , Lower Extremity , Muscular Diseases , N-Acetylneuraminic Acid , Phosphotransferases , Pregnancy
20.
Laboratory Medicine Online ; : 191-197, 2013.
Article in Korean | WPRIM | ID: wpr-114475

ABSTRACT

BACKGROUND: The Multiplate analyzer (Dynabyte GmbH) has been recently introduced as a platelet function test for patients taking antiplatelet drugs. The study aimed at providing basic data for determining the reference interval of parameters produced by Multiplate in Koreans and to study the factors that influence those parameters. METHODS: Blood was collected from 35 healthy volunteers (female 18, male 17) into tubes containing hirudin or 3.2% sodium citrate. Whole blood platelet aggregations triggered by adenosine-5'-diphosphate (ADP), ADP-high sensitive (ADP+PGE1 only in hirudin samples), arachidonic acid (AA), collagen or thrombin receptor activator peptide (TRAP) were investigated using Multiplate according to the manufacturer's instructions. Data from healthy volunteers for the area under the curve (AUC) were determined from the central 95th percentile of the results. RESULTS: The values of AUC in hirudin samples for all agonists were significantly higher than those in sodium citrate samples. The AUC values in hirudin (sodium citrate) samples were as follows: ADP 38-107 (18-119) U; ADP+PGE1 16-91 U; AA 64-156 (32-117) U; collagen 53-112 (26-108) U; and TRAP 81-163 (49-149) U. The parameters from Multiplate were significantly correlated with leukocyte counts, but not with hematocrit levels. CONCLUSIONS: Although our data were derived from only 35 subjects, the results are expected to be helpful in determining the reference interval at a single institute and may serve as basic data for future cumulative data of reference intervals from multiple institutes in Korea.


Subject(s)
Academies and Institutes , Adenosine Diphosphate , Arachidonic Acid , Area Under Curve , Blood Platelets , Citrates , Citric Acid , Collagen , Hematocrit , Hirudins , Humans , Korea , Leukocyte Count , Male , Platelet Aggregation Inhibitors , Platelet Function Tests , Receptors, Thrombin , Sodium
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