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Some patients develop ischemic stroke despite taking direct oral anticoagulants because of the presence of other risk factors such as coagulopathies. A 65-year-old male patient with non-valvular atrial fibrillation (NVAF) taking rivaroxaban was diagnosed as having embolic stroke and antithrombin-III (AT-III) deficiency. Echocardiography revealed a thrombus in the left atrial appendage (LAA). He was prescribed warfarin, and after resolution of the thrombus, we successfully performed percutaneous LAA closure (LAAC), with no subsequent recurrence or device-related thrombosis. Warfarin and LAAC may be feasible for NVAF patients with AT-III deficiency.
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BACKGROUND: We previously developed an optimized q-space diffusional MRI technique (normalized leptokurtic diffusion [NLD] map) to delineate the demyelinated lesions of multiple sclerosis (MS) patients. Herein, we evaluated the utility of NLD maps to discern the white matter abnormalities in normal-appearing white matter (NAWM) and the abnormalities' possible associations with physical and cognitive disabilities in MS. METHODS: We conducted a retrospective observational study of MS patients treated at our hospital (Jan. 2012 to Dec. 2022). Clinical and MRI data were collected; Processing Speed Test (PST) data were obtained when possible. For a quantitative analysis of the NLD maps, we calculated the NLD index as GVROI/GVREF, where GV is a mean grayscale value in the regions of interest (ROIs) and the reference area (REF; cerebrospinal fluid). RESULTS: One hundred-one individuals with MS were included. The lower corpus callosum and non-lesional WM NLD index were associated with worse Expanded Disability Status Scale (EDSS) and PST scores. The NLD indexes in the corpus callosum (p < 0.0001) and non-lesional white matter (p < 0.0001) were significantly reduced in progressive MS compared to relapsing-remitting MS. We categorized MS severity as moderate/severe (EDSS score ≥ 4 points) and mild (EDSS score < 4 points). The NLD indexes in the corpus callosum (p < 0.0001) and non-lesional white matter (p < 0.0001) were significantly lower in the moderate/severe MS group compared to the mild MS group. CONCLUSION: The NLD map revealed abnormalities in the non-lesional white matter, providing valuable insights for evaluating manifestations in MS patients.
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Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Substância Branca , Humanos , Esclerose Múltipla/diagnóstico por imagem , Esclerose Múltipla/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Imagem de Difusão por Ressonância Magnética , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Esclerose Múltipla Recidivante-Remitente/patologia , Imageamento por Ressonância Magnética/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/patologiaRESUMO
Migraine is a debilitating neurovascular disorder characterized by recurrent headache attacks of moderate to severe intensity. Calcitonin gene-related peptide (GGRP), which is abundantly expressed in trigeminal ganglion (TG) neurons, plays a crucial role in migraine pathogenesis. Cortical spreading depolarization (CSD), the biological correlate of migraine aura, activates the trigeminovascular system. In the present study, we investigated CGRP mRNA expression in TG neurons in a CSD-based mouse migraine model. Our in situ hybridization analysis showed that CGRP mRNA expression was observed in smaller-sized neuronal populations. CSD did not significantly change the density of CGRP mRNA-synthesizing neurons in the ipsilateral TG. However, the cell sizes of CGRP mRNA-synthesizing TG neurons were significantly larger in the 48 h and 72 h post-CSD groups than in the control group. The proportions of CGRP mRNA-synthesizing TG neurons bearing cell diameters less than 14 µm became significantly less at several time points after CSD. In contrast, we found significantly greater proportions of CGRP mRNA-synthesizing TG neurons bearing cell diameters of 14-18 µm at 24 h, 48, and 72 h post-CSD. We deduce that the CSD-induced upward cell size shift in CGRP mRNA-synthesizing TG neurons might be causative of greater disease activity and/or less responsiveness to CGRP-based therapy.
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Peptídeo Relacionado com Gene de Calcitonina , Transtornos de Enxaqueca , Camundongos , Animais , Peptídeo Relacionado com Gene de Calcitonina/metabolismo , Gânglio Trigeminal/metabolismo , Neurônios/metabolismo , Transtornos de Enxaqueca/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismoRESUMO
Multiple sclerosis is an inflammatory demyelinating disease of unknown cause that affects the central nervous system. Although it was once deemed "incurable," many disease-modifying therapies have been introduced since the beginning of the 20th century; eight of these are now available in Japan. Treatment for multiple sclerosis is undergoing a significant shift from the safety-oriented "escalation strategy," in which the patient is initially administered medications with low risks of side effects but moderate efficacy, to a "personalized approach" based on individual prognostic factors followed by an "early top-down strategy" in which higher efficacy treatments are initiated first. Disease-modifying drugs for multiple sclerosis can be high- (fingolimod, ofatumumab, natalizumab) or moderate-efficacy (interferon beta, glatiramer acetate, dimethyl fumarate), and there are also disease-modifying therapies for secondary progressive multiple sclerosis (siponimod and ofatumumab). Approximately 20,000 Japanese patients have multiple sclerosis, and this number continues to increase. Many neurologists are expected to prescribe high-efficacy drugs in the future. The risk management of adverse events, particularly progressive multifocal leukoencephalopathy, is required to ensure that the importance of safety never be underestimated, even though treatment efficacy is the main focus.
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Fatores Imunológicos , Imunossupressores , Esclerose Múltipla , Esclerose Múltipla/tratamento farmacológico , Humanos , Imunossupressores/administração & dosagem , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Fatores Imunológicos/administração & dosagem , Fatores Imunológicos/efeitos adversos , Fatores Imunológicos/uso terapêutico , Gestão de Riscos , Resultado do TratamentoRESUMO
The patient was a 17-year-old girl with transient right-sided weakness and dysesthesia associated with headache and nausea. Head magnetic resonance imaging (MRI) revealed white matter lesions confined to the left hemisphere. Initially, multiple sclerosis was suspected, and methylprednisolone (mPSL) pulse therapy was administered, followed by fingolimod hydrochloride. However, on day 267, the patient again experienced transient hypesthesia. Cranial MRI showed expansion of the highly infiltrated areas of the left hemisphere on fluid-attenuated inversion recovery (FLAIR) and T2 weighted image, accompanied by edema. Multiple contrasting areas were also observed. Susceptibility-weighted imaging demonstrated several streaks and some corkscrew-like appearances with low signals from the white matter to the cortex, suggestive of occluded or dilated collateral vessels. Multiple dotted spots indicating cerebral microbleeds (MBs) were also observed. A brain biopsy revealed lymphocytic, non-granulomatous inflammation in and around the vessels. Vascular occlusion and perivascular MBs were prevalent. The patient was diagnosed with relapsing primary angiitis of the central nervous system (PACNS), and immunosuppressive treatment was initiated, mPSL 1000 mg/day pulse therapy. The patient's clinical symptoms and neuroradiological abnormalities gradually improved. She is now receiving oral prednisolone (6 mg/day) and mycophenolate mofetil (1750 mg/day). This case corresponds to unilateral relapsing, which has recently been reported as a specific clinicopathological subtype of PACNS.
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Vasculite do Sistema Nervoso Central , Feminino , Humanos , Adolescente , Vasculite do Sistema Nervoso Central/tratamento farmacológico , Sistema Nervoso Central/patologia , Imunossupressores/uso terapêutico , Prednisolona/uso terapêutico , Imageamento por Ressonância MagnéticaRESUMO
A migraine is clinically characterized by repeated headache attacks that entail considerable disability. Many patients with migraines experience postdrome, the symptoms of which include tiredness and photophobia. Calcitonin gene-related peptide (GGRP) is critically implicated in migraine pathogenesis. Cortical spreading depolarization (CSD), the biological correlate of migraine aura, sensitizes the trigeminovascular system. In our previous study, CSD caused hypomotility in the light zone and tendency for photophobia at 72 h, at which time trigeminal sensitization had disappeared. We proposed that this CSD-induced disease state would be useful for exploring therapeutic strategies for migraine postdrome. In the present study, we observed that the CGRP receptor antagonist, olcegepant, prevented the hypomotility in the light zone and ameliorated light tolerability at 72 h after CSD induction. Moreover, olcegepant treatment significantly elevated the threshold for facial heat pain at 72 h after CSD. Our results raise the possibility that CGRP blockade may be efficacious in improving hypoactivity in the light environment by enhancing light tolerability during migraine postdrome. Moreover, our data suggest that the CGRP pathway may lower the facial heat pain threshold even in the absence of overt trigeminal sensitization, which provides an important clue to the potential mechanism whereby CGRP blockade confers migraine prophylaxis.
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Depressão Alastrante da Atividade Elétrica Cortical , Transtornos de Enxaqueca , Humanos , Peptídeo Relacionado com Gene de Calcitonina/metabolismo , Limiar da Dor , Temperatura Alta , Fotofobia , Transtornos de Enxaqueca/tratamento farmacológico , Transtornos de Enxaqueca/metabolismo , Dor FacialRESUMO
Migraine sufferers often exhibit photophobia and physical hypoactivity in the postdrome and interictal periods, for which no effective therapy currently exists. Cortical spreading depolarization (CSD) is a neural phenomenon underlying migraine aura. We previously reported that CSD induced trigeminal sensitization, photophobia, and hypomobility at 24 h in mice. Here, we examined the effects of CSD induction on light sensitivity and physical activity in mice at 48 h and 72 h. Trigeminal sensitization was absent at both time points. CSD-subjected mice exhibited significantly less ambulatory time in both light (P = 0.0074, the Bonferroni test) and dark (P = 0.0354, the Bonferroni test) zones than sham-operated mice at 72 h. CSD-subjected mice also exhibited a significantly shorter ambulatory distance in the light zone at 72 h than sham-operated mice (P = 0.0151, the Bonferroni test). Neurotropin® is used for the management of chronic pain disorders, mainly in Asian countries. The CSD-induced reductions in ambulatory time and distance in the light zone at 72 h were reversed by Neurotropin® at 0.27 NU/kg. Our experimental model seems to recapitulate migraine-associated clinical features observed in the postdrome and interictal periods. Moreover, Neurotropin® may be effective in ameliorating postdromal/interictal hypoactivity, especially in a light environment.
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Dor Crônica , Depressão Alastrante da Atividade Elétrica Cortical , Transtornos de Enxaqueca , Enxaqueca com Aura , Animais , CamundongosRESUMO
Cortical spreading depolarisation (CSD), the neural mechanism underlying migraine aura, may cause headache by sensitising the trigeminal system. Photophobia, the most bothersome accompanying symptom during migraine attacks, is more prevalent in migraine with aura than in migraine without aura. Whether CSD plays a role in developing photophobia remains unknown. Moreover, migraine-induced physical hypoactivity contributes to loss of productivity. We aimed to investigate the development of trigeminal sensitisation, photophobia and locomotive abnormality after KCl-induced CSD using 86 male C57BL/6 mice. Sham-operated mice were used as controls. We confirmed the presence of trigeminal sensitisation and photophobia at 24 h after CSD. CSD-subjected mice also exhibited significantly reduced locomotive activity in both light and dark zones. Hence, the CSD-induced hypomobility was likely to be independent of photophobia. The 5-HT1B/1D agonist, sumatriptan, corrected all these CSD-induced abnormalities. Moreover, dose dependency was demonstrated in the ameliorating effect of the calcitonin gene-related peptide (CGRP) receptor antagonist, olcegepant, on these abnormalities. Sumatriptan and olcegepant improved mouse locomotion with therapeutic lags ranging from 20 to 30 min. Collectively, CSD caused trigeminal sensitisation, photophobia and hypomobility that persisted for at least 24 h by a mechanism involving the 5-HT1B/1D and CGRP activity.
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Depressão Alastrante da Atividade Elétrica Cortical/efeitos dos fármacos , Dipeptídeos/uso terapêutico , Hiperalgesia/tratamento farmacológico , Enxaqueca com Aura/tratamento farmacológico , Fotofobia/tratamento farmacológico , Quinazolinas/uso terapêutico , Sumatriptana/uso terapêutico , Animais , Peptídeo Relacionado com Gene de Calcitonina/metabolismo , Antagonistas do Receptor do Peptídeo Relacionado ao Gene de Calcitonina/uso terapêutico , Córtex Cerebral/metabolismo , Dor Crônica , Eletrodos , Face , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Movimento , Piperazinas , Prevalência , Receptores de Serotonina/metabolismo , Agonistas do Receptor 5-HT1 de Serotonina/uso terapêutico , TemperaturaRESUMO
Amaurosis fugax (AmF) is defined as transient monocular visual loss secondary to retinal ischemia. In most patients presenting with AmF, the attack of visual loss occurs in the same eye. A 64-year-old woman experienced transient visual loss in her right eye. Three days after that, an attack happened on the left side. In total, she had 5 episodes of AmF in 2 months. AmF occurred on both sides at different times, and so may be referred to as "Alternating AmF". Diffusion-weighted magnetic resonance imaging showed high-intensity lesions in various parts of brain, and laboratory examination revealed elevated D-dimer and ovarian tumor marker. We suspected Trousseau syndrome and found a giant ovary tumor. After removal of the tumor, no recurrence was observed. When a patient with alternating AmF is encountered, screening for malignancy is essential.
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Adenocarcinoma de Células Claras/complicações , Amaurose Fugaz/etiologia , Neoplasias Ovarianas/complicações , Tromboembolia/etiologia , Trombofilia/etiologia , Adenocarcinoma de Células Claras/sangue , Adenocarcinoma de Células Claras/diagnóstico , Adenocarcinoma de Células Claras/terapia , Amaurose Fugaz/diagnóstico por imagem , Biomarcadores Tumorais/sangue , Coagulação Sanguínea , Angiografia Cerebral/métodos , Imagem de Difusão por Ressonância Magnética , Feminino , Produtos de Degradação da Fibrina e do Fibrinogênio/metabolismo , Humanos , Angiografia por Ressonância Magnética , Pessoa de Meia-Idade , Neoplasias Ovarianas/sangue , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/terapia , Recidiva , Síndrome , Tromboembolia/sangue , Tromboembolia/diagnóstico por imagem , Trombofilia/sangue , Trombofilia/diagnóstico , Resultado do TratamentoRESUMO
We report an 18 year-old-male, who had been aware of decreased visual acuity for 6 months, newly presented with paresis and sensory disturbance in his right leg. On admission, his critical flicker frequency was reduced bilaterally, and his spinal cord MRI revealed T2-hyperintense lesions in cervical and thoracic cord with occasional contrast enhancements, but none of them were longitudinally extensive. There was no evidence of T2-hyperintense in his brain MRI. Anti-aquapolin-4 (AQP4) antibody was negative but the patient was positive for oligoclonal bands in his cerebrospinal fluid. The patient was tentatively diagnosed as opticospinal multiple sclerosis (OSMS). However, he later tuned out to be positive for anti-myelin oligodendrocyte glycoprotein (MOG) antibody. The 2017 revised McDonald criteria don't take anti-MOG antibody into account in detail as to how clinicians should deal with patients fulfilling the MS criteria when they were also positive for anti-MOG antibody, because of its difficult problem of independence. So, we need to accumulate knowledge about these cases.
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Autoanticorpos/líquido cefalorraquidiano , Esclerose Múltipla/diagnóstico , Glicoproteína Mielina-Oligodendrócito/imunologia , Adolescente , Aquaporina 4/imunologia , Biomarcadores/líquido cefalorraquidiano , Encéfalo/diagnóstico por imagem , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Neuroimagem , Bandas Oligoclonais , Medula Espinal/diagnóstico por imagemRESUMO
Sinonasal glomangiopericytoma (SN-GPC) is an uncommon mesenchymal tumor with myoid differentiation. Recently, mutations in exon 3 of the gene coding for ß-catenin (CTNNB1) and its nuclear expression were discovered in SN-GPC. ß-catenin protein is a key regulatory molecule of the canonical Wnt signaling pathway. The expression of ß-catenin target proteins is not well characterized in SN-GPC. We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear ß-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from ß-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.
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Biomarcadores Tumorais , Tumor Glômico/química , Tumor Glômico/genética , Hemangiopericitoma/química , Hemangiopericitoma/genética , Fator 1 de Ligação ao Facilitador Linfoide/análise , Mutação , Neoplasias Nasais/química , Neoplasias Nasais/genética , beta Catenina/genética , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Análise Mutacional de DNA , Diagnóstico Diferencial , Feminino , Tumor Glômico/patologia , Hemangiopericitoma/patologia , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Nasais/patologia , Valor Preditivo dos Testes , Via de Sinalização Wnt/genéticaRESUMO
Using heavy-ion beam mutagenesis of Triticum monococcum strain KU104-1, we identified a mutant that shows extra early-flowering; it was named extra early-flowering 3 (exe3). Here, we carried out expression analyses of clock-related genes, clock downstream genes and photoperiod pathway genes, and found that the clock component gene PHYTOCLOCK 1/LUX ARRHYTHMO (PCL1/LUX) was not expressed in exe3 mutant plants. A PCR analysis of DNA markers indicated that the exe3 mutant had a deletion of wheat PCL1/LUX (WPCL1), and that the WPCL1 deletion was correlated with the mutant phenotype in the segregation line. We confirmed that the original strain KU104-1 carried a mutation that produced a null allele of a flowering repressor gene VERNALIZATION 2 (VRN2). As a result, the exe3 mutant has both WPCL1 and VRN2 loss-of-function mutations. Analysis of plant development in a growth chamber showed that vernalization treatment accelerated flowering time in the exe3 mutant under short day (SD) as well as long day (LD) conditions, and the early-flowering phenotype was correlated with the earlier up-regulation of VRN1. The deletion of WPCL1 affects the SD-specific expression patterns of some clock-related genes, clock downstream genes and photoperiod pathway genes, suggesting that the exe3 mutant causes a disordered SD response. The present study indicates that VRN1 expression is associated with the biological clock and the VRN1 up-regulation is not influenced by the presence or absence of VRN2.
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Flores/crescimento & desenvolvimento , Regulação da Expressão Gênica de Plantas/genética , Genes de Plantas/genética , Deleção de Sequência , Triticum/genética , Flores/genética , Mutação , Fotoperíodo , Proteínas de Plantas/metabolismo , Triticum/crescimento & desenvolvimentoRESUMO
RATIONALE: Recently, drug-related myasthenia gravis (MG) has received attention, because the number of reported cases involving MG associated with immune checkpoint inhibitors, a new immunotherapy, is increasing. We present a case involving the new onset of MG, in which the symptoms started shortly after intravesical Bacillus Calmette-Guerin (BCG) for bladder cancer. PATIENT CONCERNS: A 69-year-old male with bladder cancer developed ptosis and diplopia 4 days after the completion of a treatment regimen with intravesical BCG weekly for 6 weeks. DIAGNOSES: Ocular MG was confirmed by a positive serum anti-acetylcholine receptor antibody test. INTERVENTIONS: Treatment with high-dose methylprednisolone pulse therapy was given, after insufficient treatment with pyridostigmine bromide and 10âmg/d prednisolone. OUTCOMES: Symptoms resolved completely 12 days after high-dose methylprednisolone pulse therapy. LESSONS: Intravesical BCG could be listed as a novel drug that may induce a new onset of MG along with drugs such as D-penicillamine and immune checkpoint inhibitors.
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Antineoplásicos/efeitos adversos , Vacina BCG/efeitos adversos , Imunoterapia/efeitos adversos , Miastenia Gravis/induzido quimicamente , Neoplasias da Bexiga Urinária/tratamento farmacológico , Administração Intravesical , Idoso , Antineoplásicos/administração & dosagem , Vacina BCG/administração & dosagem , Humanos , Imunoterapia/métodos , MasculinoRESUMO
A 74-year-old male with a mass in the right breast visited the Department of Breast and Endocrine Surgery in November 20XX. Core needle biopsy was performed. Pathological diagnosis was diffuse large B-cell lymphoma. The Ann Arbor clinical stage was IIA, and international prognostic index was low-intermediate. Six courses of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone and four courses of intrathecal chemotherapy were administered, and the patient achieved complete remission.
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Neoplasias da Mama Masculina/diagnóstico por imagem , Neoplasias da Mama Masculina/tratamento farmacológico , Linfoma Difuso de Grandes Células B/diagnóstico por imagem , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias da Mama Masculina/patologia , Humanos , Masculino , Indução de Remissão , Tomografia Computadorizada por Raios XRESUMO
Interdigitating dendritic cell sarcoma (IDCS) is an extremely rare neoplasm of spindle to ovoid cells with phenotypic features similar to those of interdigitating dendritic cells. No standard therapy for advanced IDCS has yet been established. According to past reports, CHOP-like regimens are often chosen as primary therapy. Herein, we report a case with advanced IDCS, for which ABVD achieved remarkable clinical improvement and serial CEA levels correlated with disease status. A 76-year-old man presented with general fatigue and pancytopenia with CEA elevation. Colonoscopy showed erosion and polyps in the colon. FDG-PET showed marked abnormal accumulation throughout the bone marrow. Pathologically, polyps of the colon and IDCS of the bone marrow were diagnosed. Although the patient received CHOP as initial therapy, clinical improvement was not significant. Subsequently, six cycles of ABVD resulted in remarkable regression of both the colonic polyps and the bone marrow infiltration. Moreover, the patient was transfusion-free after ABVD. In addition to these clinical responses, serial CEA levels normalized. Our case highlights the efficacy of ABVD for IDCS and serial CEA measurements might reflect treatment efficacy.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Antígeno Carcinoembrionário/sangue , Sarcoma de Células Dendríticas Interdigitantes/diagnóstico por imagem , Sarcoma de Células Dendríticas Interdigitantes/terapia , Idoso , Bleomicina/uso terapêutico , Dacarbazina/uso terapêutico , Sarcoma de Células Dendríticas Interdigitantes/sangue , Doxorrubicina/uso terapêutico , Humanos , Masculino , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Resultado do Tratamento , Vimblastina/uso terapêuticoRESUMO
The consensus model for floral organ formation in higher plants, the so-called ABCDE model, proposes that floral whorl-specific combinations of class A, B, C, D, and E genes specify floral organ identity. Class A, B, C, D and E genes encode MADS-box transcription factors; the single exception being the class A gene APETALA2. Bread wheat (Triticum aestivum) is a hexaploid species with a genome constitution AABBDD; the hexaploid originated from a cross between tetraploid T. turgidum (AABB) and diploid Aegilops tauschii (DD). Tetraploid wheat is thought to have originated from a cross between the diploid species T. urartu (AA) and Ae. speltoides (BB). Consequently, the hexaploid wheat genome contains triplicated homoeologous copies (homoeologs) of each gene derived from the different ancestral diploid species. In this study, we examined the expression patterns of homoeologs of class B, C and D MADS-box genes during floral development. For the class B gene wheat PISTILLATA2 (WPI2), the homoeologs from the A and D genomes were expressed, while expression of the B genome homoeolog was suppressed. For the class C gene wheat AGAMOUS1 (WAG1), the homoeologs on the A and B genomes were expressed, while expression of the D genome homoeolog was suppressed. For the class D gene wheat SEEDSTICK (WSTK), the B genome homoeolog was preferentially expressed. These differential patterns of homoeolog expression were consistently observed among different hexaploid wheat varieties and synthetic hexaploid wheat lines developed by artificial crosses between tetraploid wheat and Ae. tauschii. These results suggest that homoeolog-specific regulation of the floral MADS-box genes occurs in allopolyploid wheat.
Assuntos
Flores/crescimento & desenvolvimento , Proteínas de Domínio MADS/genética , Triticum/genética , Flores/genética , Regulação da Expressão Gênica no Desenvolvimento , Regulação da Expressão Gênica de Plantas , Genoma de Planta , Proteínas de Plantas/genética , Poliploidia , Triticum/crescimento & desenvolvimentoRESUMO
A 53-year-old male with a past medical history of hypertension and bipolar disorder gradually developed gait disturbance and cognitive dysfunction over half a year. His cranial MRI showed an area of hyperintensity in the right occipital lobe on T2 weighted images and the surface of the lesion was enhanced along the sulci. We diagnosed his condition as amyloid-ß-related angiitis (ABRA) based on brain biopsy. Repeated, frequent seizures resistant to several antiepileptic drugs (AEDs) occurred after the operation. Steroid therapy was effective and the symptoms, including the intractable seizures and MRI abnormalities dramatically improved. In contrast to the common wild type ε3/ε3 ApoE genotype, a majority of ABRA patients have ε4/ε4. However, in this case the rare ε4/ε2 type was detected. The ε4 allele is considered to promote Aß deposition on the vessel wall, and ε2 is speculated to trigger vessel ruptures or vascular inflammation. Although seizure is not a common complication of brain biopsy, it occurred repeatedly and responded poorly to AEDs in this case. Surgical stress in this patient with ε2 probably induced the uncontrolled seizures. ApoE genotype may be an effective and low-invasive marker in case of suspected ABRA and in predicting the risks of the complication from brain biopsy.
Assuntos
Peptídeos beta-Amiloides/análise , Apolipoproteína E2/genética , Apolipoproteína E4/genética , Vasculite do Sistema Nervoso Central/genética , Humanos , Masculino , Pessoa de Meia-Idade , Vasculite do Sistema Nervoso Central/metabolismoRESUMO
Clubroot disease is one of the major diseases affecting Brassicaceae crops, and a number of these crops grown commercially, such as Chinese cabbage (Brassica rapa L. ssp. pekinensis), are known to be highly susceptible to clubroot disease. To provide protection from this disease, plant breeders have introduced genes for resistance to clubroot from the European turnip into susceptible lines. The CRa gene confers specific resistance to the clubroot pathogen Plasmodiophora brassicae isolate M85. Fine mapping of the CRa locus using synteny to the Arabidopsis thaliana genome and partial genome sequences of B. rapa revealed a candidate gene encoding a TIR-NBS-LRR protein. Several structural differences in this candidate gene were found between susceptible and resistant lines, and CRa expression was observed only in the resistant line. Four mutant lines lacking clubroot resistance were obtained by the UV irradiation of pollen from a resistant line, and all of these mutant lines carried independent mutations in the candidate TIR-NBS-LRR gene. This genetic and molecular evidence strongly suggests that the identified gene is CRa. This is the first report on the molecular characterization of a clubroot Resistance gene in Brassicaceae and of the disease resistance gene in B. rapa.
Assuntos
Brassica rapa/genética , Brassica rapa/parasitologia , Genes de Plantas , Doenças das Plantas/genética , Doenças das Plantas/parasitologia , Plasmodioforídeos/patogenicidade , Sequência de Aminoácidos , Mapeamento Cromossômico , Dados de Sequência Molecular , Mutagênese , Proteínas de Plantas/genética , Plantas Geneticamente Modificadas , Homologia de Sequência de AminoácidosRESUMO
The photoperiod sensitivity gene Ppd-1 influences the timing of flowering in temperate cereals such as wheat and barley. The effect of Ppd-1 on the expression of flowering-time genes was assessed by examining the expression levels of the vernalization genes VRN1 and VRN3/WFT and of two CONSTANS-like genes, WCO1 and TaHd1, during vegetative and reproductive growth stages. Two near-isogenic lines (NILs) were used: the first carried a photoperiod-insensitive allele of Ppd-1 (Ppd-1a-NIL), the other, a photoperiod-sensitive allele (Ppd-1b-NIL). We found that the expression pattern of VRN1 was similar in Ppd-1a-NIL and Ppd-1b-NIL plants, suggesting that VRN1 is not regulated by Ppd-1. Under long day conditions, VRN3/WFT showed similar expression patterns in Ppd-1a-NIL and Ppd-1b-NIL plants. However, expression differed greatly under short day conditions: VRN3/WFT expression was detected in Ppd-1a-NIL plants at the 5-leaf stage when they transited from vegetative to reproductive growth; very low expression was present in Ppd-1b-NIL throughout all growth stages. Thus, the Ppd-1b allele acts to down-regulate VRN3/WFT under short day conditions. WCO1 showed high levels of expression at the vegetative stage, which decreased during the phase transition and reproductive growth stages in both Ppd-1a-NIL and Ppd-1b-NIL plants under short day conditions. By contrast to WCO1, TaHd1 was up-regulated during the reproductive stage. The level of TaHd1 expression was much higher in Ppd-1a-NIL than the Ppd-1b-NIL plants, suggesting that the Ppd-1b allele down-regulates TaHd1 under short day conditions. The present study indicates that down-regulation of VRN3/WFT together with TaHd1 is the cause of late flowering in the Ppd-1b-NIL plants under short day conditions.