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BACKGROUND: Situs inversus (SI) is a rare congenital anomaly in which systemic organs and vessels are positioned in a mirror image of their normal positions. An interesting issue regarding individuals with such a condition is whether they also have reversed brain asymmetries. Most of studies on this issue indicate that, similarly to many people with normal visceral alignment, patients with SI have a left hemispheric dominance for language functions. CASE PRESENTATION: We report a rare occurrence of anomalous cerebral dominance for language in a patient with complete situs inversus. The right-handed patient developed aphasia after carotid stenting, and brain magnetic resonance imaging showed cerebral infarction in the right parietal lobe. CONCLUSION: Anomalous cerebral dominance for language and visceral situs inversus in our patient both may result from a single, genetically coded atypicality of developmental gradient.
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Afasia , Situs Inversus , Stents , Humanos , Situs Inversus/complicaciones , Situs Inversus/diagnóstico por imagen , Afasia/etiología , Afasia/diagnóstico por imagen , Masculino , Infarto Cerebral/diagnóstico por imagen , Infarto Cerebral/complicaciones , Infarto Cerebral/etiología , Anciano , Imagen por Resonancia Magnética , Estenosis Carotídea/cirugía , Estenosis Carotídea/complicaciones , Estenosis Carotídea/diagnóstico por imagenRESUMEN
CLINICAL IMPACT: Digital subtraction angiography (DSA) has traditionally been considered an effective method for visualizing carotid free-floating thrombus (CFFT), but it falls short in providing detailed structures of the lumen and the composition of thrombi, making it challenging to determine the etiology. Intravascular optical coherence tomography (OCT) is a valuable adjunct to DSA that can precisely evaluate the characteristics of the intrinsic vessel wall and accurately distinguish between red and white thrombus, providing clues to the etiology of CFFTs. Moreover, OCT not only precisely determined the scope of a floating thrombus but also provided guidance for decision-making in endovascular treatment.
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Purpose: Small dense low-density lipoprotein cholesterol (S-LDL-C) has been suggested as a particularly atherogenic factor for ischemic stroke (IS) in observational studies, but the causality regarding the etiological subtype remains unclear. This study aims to explore the causal effects of small dense low-density lipoprotein cholesterol (S-LDL-C), medium (M-LDL-C) and large (L-LDL-C) subfractions on the lifetime risk of ischemic stroke (IS) and main subtypes using two-sample Mendelian randomization (TSMR) design. Methods: We identified genetic instruments for S-LDL-C, M-LDL-C and L-LDL-C from a genome-wide association study of 115 082 UK Biobank participants. Summary-level data for genetic association of any ischemic stroke (AIS), large artery stroke (LAS), small vessel stroke (SVS) and cardioembolic stroke (CES) were obtained from MEGASTROKE consortium. Accounting for the pleiotropic effects of triglycerides (TG) and high-density lipoprotein cholesterol (HDL-C), we conducted multivariable TSMR analysis. Results: In univariable TSMR, we found a causal association between genetically predicted S-LDL-C and LAS (IVW-FE: odds ratio (OR) = 1.481, 95% confidence interval (CI): 1.117-1.963, P = 0.006, q = 0.076) but not AIS, SVS or CES. No causal effects were observed for M-LDL-C or L-LDL-C in terms of AIS and IS subtype. In multivariable analysis, the causal association between S-LDL-C and LAS remained significant (IVE-MRE: OR = 1.329, 95% CI: 1.106-1.597, P = 0.002). Conclusions: Findings supported a causal association between S-LDL-C and LAS. Further studies are warranted to elucidate the underlying mechanism and clinical benefit of targeting S-LDL-C.
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LDL-Colesterol , Estudio de Asociación del Genoma Completo , Accidente Cerebrovascular Isquémico , Análisis de la Aleatorización Mendeliana , Humanos , Accidente Cerebrovascular Isquémico/genética , Accidente Cerebrovascular Isquémico/epidemiología , Accidente Cerebrovascular Isquémico/sangre , LDL-Colesterol/sangre , Polimorfismo de Nucleótido Simple , Predisposición Genética a la Enfermedad , Femenino , Factores de Riesgo , MasculinoRESUMEN
Tachycardia-bradycardia syndrome (TBS) is a variant of sick sinus syndrome (SSS) characterized by alternating tachycardia and bradycardia. A few cases of SSS secondary to structural lesions in the medulla have been reported, but there has never been a reported case of the rare sign akin to TBS following acute non-medullary brainstem infarction. Furthermore, new-onset cardiac arrhythmias in stroke often presented in one continuous pattern - either as bradycardia or tachycardia, but instances of an alternating fashion have been rarely reported. We present the case of a 46-year-old female who developed severe dizziness with vomiting, diplopia, and slurred speech, which gradually worsened to quadriplegia, severe hypophonia, and dysphagia. Brain magnetic resonance imaging (MRI) demonstrated acute midbrain and pontine infarction. Except for neurological symptoms, the patient experienced unexpected TBS with the symptoms of excessive sweating, palpitations, and irritability without any other predisposing factors. The frequency of the episodes gradually declined until it spontaneously disappeared the 5th day after admission. Given the unpredictable nature of the tachycardia and bradycardia, it was challenging to manage the arrythmias with medications. A pacemaker was recommended, but financial reasons led the patient to reject this option. Two weeks after antithrombotic therapy and rehabilitation, she was discharged with residual symptoms of diplopia, moderate dysarthria, mild quadriplegia, and no cardiac symptoms. Our case highlighted the occurrence of TBS as a new-onset arrhythmia that can manifest during the acute phase of non-medullary brainstem infarcts. Further research into brainstem lesions contributing to TBS is warranted us to elucidate the underlying mechanisms.
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BACKGROUND: Hemichorea typically results from a contralateral subthalamic nuclei (STN) lesion, although it has been reported in the cortex in a minority of cases. However, to our best knowledge, there are no documented cases in literature of hemichorea occurring as a secondary condition to an isolated temporal stroke. CASE PRESENTATION: We present a case of an elderly female who sustained a sudden onset of hemichorea in her right extremities, predominantly in the distal region, lasting over a period of two days. Brain diffuse weighted image (DWI) demonstrated a high signal in the temporal region, while magnetic resonance angiography (MRA) revealed severe stenosis of the middle cerebral artery. During the symptomatic phase, computed tomography perfusion (CTP) revealed delayed perfusion in the left middle cerebral artery territory, characterized by the time-to-peak (TTP) measure. Based on the results of her medical history and laboratory tests, we were able to rule out the possibility of infectious, toxic, or metabolic encephalopathy. Her symptoms gradually improved with antithrombotic and symptomatic treatment. CONCLUSIONS: It is important to recognize and consider acute onset hemichorea as an initial symptom of stroke to avoid misdiagnosis and delays in appropriate treatment. Further research on temporal lesion that lead to hemichorea is warranted to gain a better understanding of the underlying mechanisms.
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Trastornos Cerebrovasculares , Corea , Accidente Cerebrovascular , Femenino , Humanos , Anciano , Constricción Patológica , Arteria Cerebral Media , Corea/diagnóstico , Corea/etiologíaRESUMEN
Bilateral medial medullary infarction is a rare stroke subtype, and its diagnosis has become possible by brain magnetic resonance imaging. In this report, we describe a case in which acute bilateral medial medullary infarction accompanied by cerebral watershed infarction was clearly identified by diffusion-weighted imaging, and we discuss the mechanisms of bilateral medial medullary infarction accompanied by cerebral watershed infarction.
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Infarto Cerebral , Bulbo Raquídeo , Imagen de Difusión por Resonancia Magnética , Humanos , Infarto , Imagen por Resonancia Magnética/métodos , Bulbo Raquídeo/patología , Accidente Cerebrovascular/etiologíaRESUMEN
RATIONALE: Mild-to-moderate alcoholic cirrhosis of the liver is related to spontaneous intracerebral hemorrhage (ICH). In terms of spontaneous brainstem hemorrhage, pontine is considered as the most common site in contrast to medulla oblongata where the hemorrhage is rarely seen. This rare primary medullary hemorrhage has been attributed so far to vascular malformation (VM), anticoagulants, hypertension, hemorrhagic transformation, and other undetermined factors. PATIENT CONCERNS: Herein, we describe a 53-year-old patient with 35-year history of alcohol abuse was admitted for acute-onset isolated hemianesthesia on the right side. He was normotensive on admission. A neurological examination revealed isolated hemihypoaesthesia on the right side. He had no history of hypertension, and viral hepatitis, and nil use of anticoagulants. DIAGNOSES: Brain computed tomography (CT) image demonstrated hemorrhagic lesion in dorsal and medial medulla oblongata which was ruptured into the fourth ventricle. Brain magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA) demonstrated no evidence of VM. The laboratory tests implied liver dysfunction, thrombocytopenia, and coagulation disorders. Abdominal ultrasound, and CT image showed a small, and nodular liver with splenomegaly, suggestive of moderate alcoholic cirrhosis. INTERVENTIONS: Liver protection therapy and the management of coagulation disorders. OUTCOMES: After 14 days, he was discharged with mild hemianesthesia but with more improved parameters in laboratory tests. At the 6-month follow-up, brain MRI, MRA, and non-contrast MRI showed no significant findings except for a malacic lesion. LESSONS: We conclude that the patient had alcoholic cirrhosis with coagulopathy, and this may have resulted in primary medullary hemorrhage. This is a first case to report alcoholic cirrhosis as etiology of primary medullary hemorrhage.
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Trastornos de la Coagulación Sanguínea/complicaciones , Hemorragias Intracraneales/etiología , Cirrosis Hepática Alcohólica/complicaciones , Tronco Encefálico , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Ischemic stroke is a major cerebrovascular disease resulting from a transient or permanent local reduction of cerebral blood flow. Angiogenesis plays an important role in cerebral microvascular repair after ischemic stroke. This study aimed at investigating the effect of NF-E2-related factor 2 (Nrf2) on the angiogenesis of mouse cerebral microvascular endothelial bEnd.3 cells in a hypoxic environment. We found that Nrf2 expression was temporarily increased in hypoxia-induced bEnd.3 cells. Knockdown of Nrf2 inhibited the proliferation, migration, as well as tube formation in hypoxia-induced bEnd.3 cells. Meanwhile, vascular endothelial growth factor and PI3K/Akt signaling pathways were identified to be regulated by Nrf2 in hypoxia-induced bEnd.3 cells. It was found that silencing of Nrf2 downregulated the expression levels of NAD(P)H:quinine oxidoreductase-1, vascular endothelial growth factor, p-Akt, and heme oxygenase-1 in hypoxia-induced bEnd.3 cells. Data suggested that hypoxia induced the transient increase of Nrf2, which plays a key role in the angiogenesis of cerebral microangiogenesis, and that Nrf2 regulates the proliferation, migration, as well as tube formation likely through PI3K/Akt signaling pathway in hypoxia-induced bEnd.3 cells. Our study provides proof of concept for the modulation of Nrf2, so as to tilt the balance toward angiogenesis, representing a therapeutic strategy for hypoxia or ischemia disorders such as stroke.
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Células Endoteliales/metabolismo , Factor 2 Relacionado con NF-E2/genética , Neovascularización Patológica/genética , Factor A de Crecimiento Endotelial Vascular/genética , Animales , Hipoxia de la Célula/genética , Regulación hacia Abajo , Técnicas de Silenciamiento del Gen , Ratones , Neovascularización Patológica/metabolismo , Fosfatidilinositol 3-Quinasas/metabolismo , Proteínas Proto-Oncogénicas c-akt/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismoRESUMEN
Neuropsychiatric symptoms have been well documented after subthalamic nucleus deep brain stimulation (STN-DBS), but those following a subthalamic lesion have been rarely reported. Herein, we present a 43-year-old woman with sudden-onset dramatic psychiatric and behavioral symptoms with hemiballism. Brain magnetic resonance imaging (MRI) with fluid attenuated inversion recovery (FLAIR) sequence during the acute phase demonstrated extensive hyperintensity in the left STN and adjacent regions. Contrast-enhanced MRI showed no abnormal areas of enhancement. Magnetic resonance venography (MRV) was normal. Routine blood and cerebrospinal fluid (CSF) tests were not remarkable. Autoimmune antibodies showed no significant results. A gradual recovery of both psychiatric and behavioral symptoms and hemiballism was observed with steroid and symptomatic treatment. Our case is unique in dramatic neuropsychiatric symptoms following a subthalamic lesion. We would like to point out that severe neuropsychiatric symptoms can occur in the patients with subthalamic lesions, and can be a troubling feature in their management.
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Síntomas Conductuales/etiología , Edema Encefálico/complicaciones , Discinesias/etiología , Núcleo Subtalámico/patología , Adulto , Agresión , Síntomas Conductuales/tratamiento farmacológico , Edema Encefálico/diagnóstico por imagen , Discinesias/tratamiento farmacológico , Femenino , Humanos , Núcleo Subtalámico/diagnóstico por imagenRESUMEN
OBJECTIVE: Alpha-synuclein (AS) accumulation identified by immunohistochemistry (IHC) of gastrointestinal (GI) tract biopsies is considered as a potential pathologic biomarker for Parkinson's disease (PD). We compared AS IHC findings in biopsy specimens and surgically resected full-depth specimens to examine the reliability of GI tract biopsies. METHODS: We included patients with PD who had undergone operation of the GI tract for treatment of tumors. Controls were matched with age at operation, gender, and surgical resection site. We compared AS accumulation using phosphorylated AS (pAS) IHC between patients and controls, and within individuals between surgical and biopsy specimens. RESULTS: A total of 33 patients with PD were categorized into either the stomach (N = 12) or colorectal group (N = 21). The frequency of pAS positivity in gastric surgical specimens was 58.3% (7/12) and 8.3% (1/12) in the patient and control groups, respectively (p = 0.027). The frequency of pAS positivity in colorectal surgical specimens was identical in the patient and control group (23.8% [5/21] in each). Intriguingly, immunostaining results for biopsy specimens were not concordant with those for surgical specimens. There was no significant difference in the frequency of pAS positivity in biopsy specimens between patients and controls (9.1% [2/22] vs 18.2% [4/22]; p = 0.664). INTERPRETATION: Our results demonstrate that AS accumulation identified via pAS IHC of GI biopsies is unreliable due to its low positive rates and poor concordance with surgical specimens, and that future studies investigating AS accumulation in the GI tract should target the stomach, rather than the colon or rectum.
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Tracto Gastrointestinal/patología , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/patología , alfa-Sinucleína/análisis , Anciano , Anciano de 80 o más Años , Biomarcadores/análisis , Biopsia , Estudios de Casos y Controles , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
BACKGROUND: Myoclonus is a clinical sign characterized by sudden, brief jerky, shock-like involuntary movements of a muscle or group of muscles. Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Cases of myoclonus or dystonia secondary to a structural lesion in the cerebellum have been reported. However, there has never been a reported case of combined myoclonus and dystonia secondary to a cerebellar lesion. CASE PRESENTATION: Herein, we report a 22-year-old female patient with sudden-onset myoclonic jerks, dystonic posture and mild ataxia in the right upper extremity. At age 19, she experienced sudden headache with vomiting. The neurological examination showed ataxia, myoclonus and dystonia in the right upper extremity. Brain images demonstrated a hemorrhage in the right cerebellar hemisphere secondary to a cavernous malformation. After resection of the hemorrhagic mass, headache with vomiting disappeared and ataxia improved, but myoclonus and dystonia persisted. CONCLUSIONS: It is the first report of combined focal myoclonus and dystonia secondary to a cerebellar lesion.