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BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical characteristics are varied, affecting the central and peripheral nervous systems and autonomic nerves. In this study, we present an NIID case with both stroke-like onset and encephalitic attacks, which is a rare case report. CASE PRESENTATION: A 68-year-old Chinese female presented with sudden aphasia and limb hemiplegia as the first symptoms, as well as fever, cognitive impairment and mental irritability from encephalitic attacks. During hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity from diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. Electrophysiological tests revealed the main site of injury was at the myelin sheath in the motor nerves. A skin biopsy revealed eosinophilic spherical inclusion bodies in the nuclei of small sweat gland cells, fibroblasts and fat cells, whilst immunohistochemistry revealed that p62 and ubiquitin antibodies were positive. From genetic analyses, the patient was not a carrier of the fragile X mental retardation 1 (FMR1) permutation, but repeated GGC sequences in the NOTCH2NLC gene confirmed an NIID diagnosis. Through antipsychotic and nutritional support therapy, the patient's symptoms were completely relieved within 3 weeks. CONCLUSIONS: This report of an NIID case with both stroke-like onset and encephalitic attacks provides new information for NIID diagnoses, and a comprehensive classification of clinical characteristics.
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Encefalitis/etiología , Enfermedades Neurodegenerativas/complicaciones , Enfermedades Neurodegenerativas/diagnóstico , Accidente Cerebrovascular/etiología , Anciano , Encefalitis/patología , Femenino , Humanos , Cuerpos de Inclusión Intranucleares/genética , Mutación , Enfermedades Neurodegenerativas/genética , Receptor Notch2/genética , Accidente Cerebrovascular/patologíaRESUMEN
Internal carotid artery congenital absence with acute embolism of the middle cerebral artery trunk is very rare. A 65-year-old female with a history of hypertension and atrial fibrillation was admitted to the neurology department of our hospital. Computed tomography of the head and neck showed no carotid canal of the petrous portion of the temporal bone; digital subtraction angiography (DSA) showed no left internal carotid artery and the right middle cerebral artery trunk occlusion. These results suggested acute embolism of the middle cerebral artery trunk with contralateral internal carotid artery congenital absence. Mechanical thrombectomy was performed, which had a good outcome. This case showed the vascular anatomy features of ICA congenital absence with contralateral large vessel acute occlusion, and it is essential to promptly identify the vascular variation during the interventional procedure.
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BACKGROUND: Iatrogenic aortic dissection (IAD) is a rare but fatal complication of interventional treatment for the proximal supra-aortic large vessels. Several cases of IAD after endovascular treatment of subclavian artery have been reported. Nevertheless, the pathogenesis of IAD is still unclear. Here we report a patient with IAD following a balloon expandable stent implanted into the left subclavian artery (LSA). CASE SUMMARY: An 84-year-old man with a history of hypertension was admitted to the Neurology Department of our hospital complaining of dizziness and gait disturbance for more than 1 mo. Computed tomography angiography of the head and neck showed severe stenosis at the proximal LSA and the origin of the left vertebral artery. Magnetic resonance diffusion-weighted imaging of the brain revealed subacute infarctions in cerebellum, occipital lobe and medulla oblongata. He suffered a Stanford type B aortic dissection after the proximal LSA angioplasty with a balloon expandable stent. Thoracic endovascular aortic repair was performed immediately with the chimney technique and he was discharged 20 d later. After exploring the pathogenesis with multimodal imaging analysis, an easily neglected focal intramural hematoma (IMH) in the aorta near the junction of the LSA was found to be the main cause of the IAD. The risk of IAD should be sufficiently evaluated according to the characteristics of aortic arch lesions before the proximal LSA angioplasty. CONCLUSION: Focal aortic IMH is a potential risk factor for IAD during a seemingly simple stenting of the proximal LSA.
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OBJECTIVE: To investigate the epidemiological pattern of Borna disease virus (BDV) among different canine breeds in Ili, China, and to analyze its potential phylogeny. METHODS: BDV p24 RNA fragments were detected from peripheral blood mononuclear cells (PBMCs) of canine by modified nested RT-PCR (nRT-PCR). Possible false positives were excluded by determination of both BDV p40 RNA fragments and PMD19 plasmid standards. Analysis were performed on genetic sequence, homologous comparison, amino acid sequence and phylogeny after p24 positive products were validated. RESULTS: BDV p24 RNA fragments were found only in Kazakh Tobet (a shepherd dog) in 8 breeds of 150 cases and their overall positive rate was 11.0% (10/91). Compared with the strain of He/80 from horse and that of S6 from sheep in Germany, the homologous similarities of Kazakh Tobet was 99.2% and 95.7%, and that of amino acid as 100% and 89.3%, respectively. The kinship of Kazakh Tobet was close to He/80 and next to S6. CONCLUSION: There was potential natural BDV infection in Kazakh Tobet in Ili, and its endemic strain was concerned with He/80 infecting Ili horse and S6 of German Merino sheep introduced into the region from Germany.
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Enfermedad de Borna/epidemiología , Virus de la Enfermedad de Borna/aislamiento & purificación , Perros/virología , Secuencia de Aminoácidos , Animales , Enfermedad de Borna/virología , Virus de la Enfermedad de Borna/genética , China/epidemiología , Alemania/epidemiología , Enfermedades de los Caballos/epidemiología , Enfermedades de los Caballos/virología , Caballos/virología , Leucocitos Mononucleares/virología , Filogenia , Plásmidos/genética , ARN Viral/sangre , ARN Viral/genética , ARN Viral/aislamiento & purificación , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Ovinos/virología , Enfermedades de las Ovejas/epidemiología , Enfermedades de las Ovejas/virología , Especificidad de la EspecieRESUMEN
OBJECTIVE: To investigate the epidemiological pattern of Borna disease virus (BDV) infection in horses and to analyze the phylogenetic tree of derived BDV in Yili, Xinjiang. METHODS: We established a modified nested RT-PCR (nRT-PCR) to detect BDV p24 segment in peripheral blood mononuclear cells (PBMCs) and brain tissues of 120 horses in Yili, Xinjiang. Positive products were analyzed by sequencing and homology analysis. RESULTS: The positive rate of BDV infection was 2.5% in both PMBCs and brain tissues at the same time. The gene sequence revealed in positive PCR samples was more than 93%, identical to that of BDV derived from horses in other countries. We also noticed a high degree of identity (> 98%) to standard strain He/80 in gene sequence of positive PCR samples. CONCLUSION: Our study found the presence of BDV natural infection in horses in Yili. The endemic BDV had a high degree of identity to standard strain He/80.