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1.
Sci Rep ; 14(1): 11332, 2024 05 23.
Artigo em Inglês | MEDLINE | ID: mdl-38783020

RESUMO

The Proteus effect, which occurs when using an avatar in virtual reality, influences user behavior, changes attitudes, and improves physical performance. Here, we show that human pain perception can be alleviated by the Proteus effect. To investigate the pain alleviation effect of using an avatar in a virtual environment, we conducted two experiments using a head-mounted display and a thermal pain stimulator to induce acute pain. The first experiment involved 20 adult participants, while the second experiment involved 44 adult participants. Experimental results show that participants reported significantly lower pain scores (15.982% reduction), as measured by the Pain Assessment Scale (PAS), when using a muscular avatar than when using a normal avatar. The experiments also revealed several significant gender factors. For example, participants reported significantly lower pain scores when using a gender-congruent avatar. In addition, the use of a muscular avatar was particularly effective for male participants. In contrast, female participants consistently reported lower pain scores when using the avatar regardless of its body type (muscular/normal). To further our understanding, we also measured participants' gender-related pain stereotypes using the Gender Role Expectations of Pain (GREP) questionnaire, as well as participants' sense of embodiment. The results of these questionnaires are consistent with the results of the PAS, suggesting possible relationships between stereotypes and the Proteus effect on pain perception, and between the degree of immersion in an avatar and the user's perception of pain.


Assuntos
Percepção da Dor , Realidade Virtual , Humanos , Feminino , Masculino , Percepção da Dor/fisiologia , Adulto , Fatores Sexuais , Adulto Jovem , Medição da Dor , Inquéritos e Questionários , Dor/psicologia , Interface Usuário-Computador , Avatar
2.
Cureus ; 16(3): e56253, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38623094

RESUMO

When starting a mechanical thrombectomy, manual aspiration with balloon guide catheters inserted into the internal carotid artery (ICA) is an efficient method for thrombus aspiration. However, no complications associated with this procedure have been reported. This study describes the case of a 76-year-old man who presented to our hospital with total aphasia and complete right-sided paralysis due to chronic atrial fibrillation and left occlusion of the ICA. When the balloon guide catheter was inserted and inflated at the origin of the left ICA, the patient's systolic blood pressure suddenly decreased from 114 mm Hg to 44 mm Hg. This sudden hypotension may have been caused by the carotid sinus reflex. Hypotension improved following balloon deflation. The procedure was continued, resulting in complete recanalization of the left ICA. The patient died from acute exacerbation of interstitial pneumonia. Although this complication is rare, similar phenomena have been recognized in carotid artery stenting and the use of flow-diverting devices. To the best of our knowledge, this is the first report of a case wherein the carotid sinus reflex was induced by manual aspiration using a balloon guide catheter placed in the ICA. Clinicians should recognize the importance of ensuring that the proximal end of the balloon crosses the carotid sinus when dilating and occluding the ICA with a balloon to avoid the carotid sinus reflex.

3.
Nagoya J Med Sci ; 85(1): 141-149, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36923610

RESUMO

POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) syndrome is a rare multisystem disease characterized by plasma cell dyscrasia and overproduction of vascular endothelial growth factor, which is related to disease activity. Recent treatment strategies have improved survival of patients suffering from this disorder; however, ischemic stroke remains a poor prognostic factor. POEMS patients with ischemic stroke frequently develop cerebral large artery stenosis/occlusion, followed by progressive stroke. Post literature review, we present an ischemic stroke case of quasi-moyamoya disease linked with this syndrome that was successfully treated with surgical revascularization. A 41-year-old woman diagnosed with POEMS syndrome developed progressive ischemic stroke due to quasi-moyamoya disease, despite decreased vascular endothelial growth factor level with lenalidomide and dexamethasone treatment. She underwent superficial temporal artery to middle cerebral artery bypass with encephalo-duro-myo-synangiosis bilaterally. The postoperative course was uneventful. Two years and five months after the stroke, neuroimaging demonstrated bypass patency, neovascularization after encephalo-duro-myo-synangiosis, and no recurrence of stroke. Our case is the first to report successful surgical revascularization for a POEMS patient. Surgical revascularization may be a useful treatment option for patients with quasi-moyamoya disease associated with POEMS syndrome, especially for those who develop refractory ischemic stroke despite reduced vascular endothelial growth factor level.


Assuntos
AVC Isquêmico , Gamopatia Monoclonal de Significância Indeterminada , Doença de Moyamoya , Síndrome POEMS , Acidente Vascular Cerebral , Feminino , Humanos , Adulto , Doença de Moyamoya/cirurgia , Síndrome POEMS/cirurgia , Síndrome POEMS/complicações , Fator A de Crescimento do Endotélio Vascular , Gamopatia Monoclonal de Significância Indeterminada/complicações , Acidente Vascular Cerebral/complicações , AVC Isquêmico/complicações
4.
Nagoya J Med Sci ; 85(1): 157-166, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36923625

RESUMO

Fenestration of the A1 segment of the anterior cerebral artery is a rare vascular anomaly with a high risk of saccular aneurysm at the proximal end of the A1 fenestration. These aneurysms have a high risk of rupture. However, conventional surgical clipping can be technically challenging due to the anatomical characteristics. We report a case of A1 fenestration with a ruptured aneurysm wherein we successfully achieved complete obliteration of the aneurysm with a new "single-lane" clipping technique. A 64-year-old woman presented with a ruptured saccular A1 aneurysm at the proximal end of an A1 fenestration, resulting in subarachnoid hemorrhage. Microsurgical clipping was attempted; however, adequate exposure of the aneurysm could not be achieved. The recurrent artery of Heubner originated near the distal end of the lateral limb of the A1 fenestration. The lateral limb of the A1 fenestration had no perforating arteries, according to surgical examination. Thus, the aneurysm neck and lateral limb were concurrently obliterated using a nonfenestrated clip, preserving the medial limb of the A1 fenestration. The antegrade flow of the recurrent artery of Heubner was detected using the retrograde flow of the distal part of the lateral limb of the A1 fenestration during intraoperative indocyanine green video angiography. The postoperative course was uneventful without any evidence of ischemic stroke. For A1 aneurysms arising from the proximal end of the A1 fenestration, this technique may be a useful treatment option. Before using this technique, careful surgical exploration should be performed to assess the A1 perforating arteries.


Assuntos
Aneurisma Roto , Aneurisma Intracraniano , Hemorragia Subaracnóidea , Feminino , Humanos , Pessoa de Meia-Idade , Artéria Cerebral Anterior/diagnóstico por imagem , Artéria Cerebral Anterior/cirurgia , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/cirurgia , Hemorragia Subaracnóidea/etiologia , Hemorragia Subaracnóidea/cirurgia , Aneurisma Roto/diagnóstico por imagem , Aneurisma Roto/cirurgia , Artérias , Angiografia Cerebral/efeitos adversos
5.
World Neurosurg ; 171: e581-e589, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36529427

RESUMO

BACKGROUND: Transradial mechanical thrombectomy (MT) is increasingly used because it is associated with a low incidence of vascular access site complications. However, transradial carotid cannulation can be technically challenging to perform in patients with an unfavorable supra-aortic takeoff. In this study, the feasibility and safety of a new transradial MT system with a radial-specific neurointerventional guiding sheath-6F Simmons guiding sheath was evaluated-in patients with anterior circulation large-vessel occlusions. Additionally, a literature review was performed. METHODS: We retrospectively analyzed data from our institutional database about consecutive patients who underwent transradial MT for anterior circulation large-vessel occlusion. After the 6F Simmons guiding sheath was engaged into the target common carotid artery, a triaxial system (Simmons guiding sheath/aspiration catheter/microcatheter), was established. MT using the continuous aspiration prior to intracranial vascular embolectomy technique was performed. Then, procedural success rate, successful revascularization, and procedure-related complications were assessed. RESULTS: A total of 13 patients who had transradial MT were included in the analysis. All 13 patients underwent successful thrombectomy without catheter kinking or system instability, and 12 of them achieved successful revascularization (modified Thrombolysis in Cerebral Infarction score of ≥2b). No complications occurred. CONCLUSIONS: To the best of our knowledge, this is the first case series on transradial MT using a radial-specific neurointerventional system for anterior circulation large-vessel occlusions. This method may increase the success rate of transradial MT. Based on our initial experience, transradial MT, using this system, was feasible and safe for anterior circulation large-vessel occlusions.


Assuntos
Acidente Vascular Cerebral , Trombectomia , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Trombectomia/métodos , Artéria Carótida Primitiva , Artéria Radial , Acidente Vascular Cerebral/etiologia
6.
Tohoku J Exp Med ; 256(1): 63-71, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-35095029

RESUMO

Since knowledge of medical communication education and objective structured clinical examination (OSCE) is increasing, a greater number of simulated patients/standardized patients (SPs) will undoubtedly be needed throughout Japan. At Tokyo Medical University in Japan, non-medical professional school staff members have acted as SPs in post-clinical clerkship OSCEs. However, except for academic or medical staff, no other staff members were reported to have acted as SPs. Therefore, the significance of the large numbers of solely medical school staff acting as SPs needs to be investigated. The purpose of this study was to determine how acting as SPs affects medical school staff's understanding of student education and whether it is useful for university staff to know what kind of education is being provided at their own school. A mixed-method study was utilized to investigate what kind of attitudinal changes occurred among medical school staff after their SP experiences. Accordingly, the researchers conducted a questionnaire survey with staff members after they acted as SPs. The questionnaire was developed through semi-structured interviews. The majority of the participants' responses were positive. They claimed that they had gained knowledge on the testing of students and now understood the importance of doctors' communication skills. Furthermore, many stated that all staff members at medical schools should experience acting as SPs. Medical school staff understands students' education processes better after acting as SPs. Japan's SPs are aging and becoming fewer; however, these SP numbers could be supplemented by medical school staff members.


Assuntos
Faculdades de Medicina , Estudantes de Medicina , Humanos , Avaliação de Resultados da Assistência ao Paciente , Simulação de Paciente , Inquéritos e Questionários
7.
Sensors (Basel) ; 21(19)2021 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-34640847

RESUMO

Research on optimal markers for infrared imaging and differences in their characteristics in the presence of heat sources has not yet been performed. This study investigates optimal material combinations for developing an accurate and detachable infrared marker for multiple conditions in the medium wave infrared (MWIR) region. Based on four requirements, 11 material combinations are systematically evaluated. Consequently, the optimal marker differs in relation to the presence of specular reflection components. Metal-insulator markers are suitable under non-heating and hot-air heating conditions without reflection components, although a printed marker made of copier paper is captured more clearly than metal-insulator markers during heating, using an optical radiation heating source with reflection components. Our findings can be applied in structural health monitoring and multi-modal projection involving heat sources.


Assuntos
Calefação , Temperatura Alta , Ar Condicionado
8.
Am J Emerg Med ; 50: 811.e1-811.e2, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34030906

RESUMO

A cholinergic crisiss is a state characterized by excess acetylcholine owing to the ingestion of cholinesterase inhibitors or cholinergic agonists. We report the first case of a cholinergic crisis after the ingestion of a carpronium chloride solution, a topical solution used to treat alopecia, seborrhea sicca, and vitiligo. An 81-year-old woman with no prior medical history was transported to our emergency department because the patient had disturbance of consciousness after ingesting three bottles of FUROZIN® solution (90 mL, 4500 mg as carpronium chloride). A family member who found the patient called for emergency medical services (EMS) personnel, who contacted the patient ten minutes after ingestion. The patient's Glasgow Coma Scale score was 12 (E4V3M5), and vital signs were as follows: blood pressure, 80/40 mmHg; heart rate, 40 beats/min. The patient vomited repeatedly in the ambulance. On arrival to the ED, the patient's systolic blood pressure and heart rate temporarily decreased to 80 mmHg and 40 beats/min, respectively. Seventy-eight minutes after ingestion, gastric lavage was performed. The patient's symptoms, which included excess salivation, sweating, and hot flush, improved 24 h after ingestion, and the patient's vital signs stabilized without atropine or vasopressors. On the second day of admission, the patient was examined by a psychiatrist and discharged without suicidal ideation. Carpronium chloride has a chemical structure similar to that of acetylcholine; therefore, it exhibits both cholinergic and local vasodilatory activities. There is limited information on the pharmacokinetics of ingested carpronium chloride; therefore, physicians should be made aware that ingesting a carpronium chloride solution may cause a cholinergic crisis.


Assuntos
Inibidores da Colinesterase/intoxicação , Ácido gama-Aminobutírico/análogos & derivados , Idoso de 80 Anos ou mais , Transtornos da Consciência/induzido quimicamente , Ingestão de Alimentos , Feminino , Rubor/induzido quimicamente , Humanos , Salivação/efeitos dos fármacos , Tentativa de Suicídio , Sudorese/efeitos dos fármacos , Ácido gama-Aminobutírico/intoxicação
9.
Clin Pharmacol Ther ; 110(2): 473-479, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33866559

RESUMO

Although several spontaneous case reports on the occurrence of thrombocytopenia in patients treated with human granulocyte colony-stimulating factor (G-CSF) preparations have been accumulated, its actual causality is still unclear. To investigate the association between G-CSF preparations (filgrastim, nartograstim, lenograstim, and pegfilgrastim) available in Japan and thrombocytopenia in patients treated with antineoplastic agents, a nested case-control study was conducted using the Medical Information Database NETwork (MID-NET®) with the cohort of the Japanese population taking antineoplastic agents between 2009 and 2018. A case of thrombocytopenia was defined as a patient who had decreased platelet counts (< 50,000/mm3 ). We identified a maximum of 10 controls for each case matched on the index date. Adjusted odds ratios (aORs) and their 95% confidence intervals (CIs) of thrombocytopenia for the use of G-CSF preparations compared with nonuse were estimated using conditional logistic regression. From the cohort in which 33,124 patients were included, 733 cases and 5,592 controls were identified. Compared with the nonuse of G-CSF preparations, the use of any G-CSF preparations increased the risk of thrombocytopenia (aOR: 5.7, 95% CI: 4.3-7.5). More detailed analysis showed that a distinctive increased risk was observed when pegfilgrastim was prescribed at 2-7 days before the index date (aOR: 7.4 95% CI: 2.0-28.1). Associations of the other G-CSF preparations with thrombocytopenia were unclear due to the inconsistent results among different analyses. A significantly increased risk of thrombocytopenia associated with pegfilgrastim was identified, leading to a revision of precautions in the package inserts of pegfilgrastim as a regulatory safety action.


Assuntos
Antineoplásicos/efeitos adversos , Fatores Estimuladores de Colônias/efeitos adversos , Filgrastim/efeitos adversos , Polietilenoglicóis/efeitos adversos , Trombocitopenia/induzido quimicamente , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Bases de Dados Factuais , Humanos , Lactente , Japão/epidemiologia , Pessoa de Meia-Idade , Neoplasias/complicações , Neoplasias/tratamento farmacológico , Razão de Chances , Contagem de Plaquetas , Sensibilidade e Especificidade , Trombocitopenia/epidemiologia , Adulto Jovem
11.
PLoS One ; 16(3): e0247937, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33661969

RESUMO

This study developed a dynamic perceptive compensation system for the rotating snakes illusion (RSI) with eye tracking. Large eye movements, such as saccades and blinks, were detected with an eye tracker, and perceptive compensation was dynamically performed based on the characteristics of RSI perception. The proposed compensation system considered three properties: spatial dependence, temporal dependence, and individual dependence. Several psychophysical experiments were performed to confirm the effectiveness of the proposed system. After the preliminary verification and determination of the temporal-dependent function for RSI perception, the effects of gaze information on RSI control were investigated. Five algorithms were compared using paired comparison. This confirmed that the compensation system that took gaze information into account reduced the RSI effect better than compensation without gaze information at a significance threshold of p < 0.01, calculated with Bonferroni correction. Some algorithms that are dependent on gaze information reduced the RSI effects more stably than still RSI images, whereas spatially and temporally dependent compensation had a lower score than other compensation algorithms based on gaze information. The developed system and algorithm successfully controlled RSI perception in relation to gaze information. This study systematically handled gaze measurement, image manipulation, and compensation of illusory image, and can be utilized as a standard framework for the study of optical illusions in engineering fields.


Assuntos
Tecnologia de Rastreamento Ocular , Ilusões Ópticas , Adulto , Piscadela , Movimentos Oculares , Humanos , Percepção de Movimento , Movimentos Sacádicos , Adulto Jovem
12.
Science ; 371(6526): 260-264, 2021 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-33446551

RESUMO

The surface of neutron-rich heavy nuclei, with a neutron skin created by excess neutrons, provides an important terrestrial model system to study dilute neutron-rich matter. By using quasi-free α cluster-knockout reactions, we obtained direct experimental evidence for the formation of α clusters at the surface of neutron-rich tin isotopes. The observed monotonous decrease of the reaction cross sections with increasing mass number, in excellent agreement with the theoretical prediction, implies a tight interplay between α-cluster formation and the neutron skin. This result, in turn, calls for a revision of the correlation between the neutron-skin thickness and the density dependence of the symmetry energy, which is essential for understanding neutron stars. Our result also provides a natural explanation for the origin of α particles in α decay.

13.
J Stroke Cerebrovasc Dis ; 30(2): 105472, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33232933

RESUMO

In patients with carotid bifurcation stenosis co-existing with ipsilateral intracranial artery stenosis, combined treatment with carotid artery stenting (CAS)/carotid endarterectomy (CEA) and extracranial-to- intracranial (EC-IC) bypass can be a useful option to prevent future ischemic stroke events. EC-IC bypass requires a sufficient antegrade flow in the ipsilateral external carotid artery. However, standard CAS/CEA occasionally lead to external carotid artery occlusion. Herein, we present a case of successful one-stage endovascular revascularization of both the antegrade internal and external carotid artery flow using the carotid T-stent technique for carotid bifurcation stenosis co-existing with ipsilateral middle cerebral artery stenosis.


Assuntos
Angioplastia com Balão/instrumentação , Estenose das Carótidas/terapia , Infarto da Artéria Cerebral Média/complicações , Stents , Estenose das Carótidas/complicações , Estenose das Carótidas/diagnóstico por imagem , Estenose das Carótidas/fisiopatologia , Circulação Cerebrovascular , Humanos , Infarto da Artéria Cerebral Média/diagnóstico por imagem , Infarto da Artéria Cerebral Média/fisiopatologia , Desenho de Prótese , Resultado do Tratamento
14.
New Phytol ; 229(5): 2844-2858, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33131060

RESUMO

In Arabidopsis thaliana, PROPEPs and their derived elicitor-active Pep epitopes provide damage-associated molecular patterns (DAMPs), which trigger defence responses through cell-surface receptors PEPR1 and PEPR2. In addition, Pep peptides induce root growth inhibition and root hair formation, however their relationships and coordinating mechanisms are poorly understood. Here, we reveal that Pep1-mediated root hair formation requires PEPR-associated kinases BAK1/BKK1 and BIK1/PBL1, ethylene, auxin and root hair differentiation regulators, in addition to PEPR2. Our analysis on 69 accessions unravels intraspecies variations in Pep1-induced root hair formation and growth inhibition. The absence of a positive correlation between the two traits suggests their separate regulation and diversification in natural populations of A. thaliana. Restricted PEPR2 expression to certain root tissues is sufficient to induce root hair formation and growth inhibition in response to Pep1, indicating the capacity of non-cell-autonomous receptor signalling in different root tissues. Of particular note, root hair cell-specific PEPR2 expression uncouples defence activation from root growth inhibition and root hair formation, suggesting a unique property of root hairs in root defence activation following Pep1 recognition.


Assuntos
Proteínas de Arabidopsis , Arabidopsis , Ácidos Indolacéticos , Peptídeos , Raízes de Plantas , Proteínas Serina-Treonina Quinases , Receptores de Superfície Celular
15.
Drug Saf ; 43(11): 1121-1131, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32617874

RESUMO

INTRODUCTION: Increased post-marketing reports of interstitial lung disease in Japan have been recognized. An understanding of its regional groundings can be important for the global pharmacovigilance community. OBJECTIVE: The objective of this study was to explore the correlation between high rates of interstitial lung disease reporting and regulatory actions in Japan. METHODS: Post-marketing interstitial lung disease-related label changes and interstitial lung disease reports were classified by the anatomical therapeutic chemical classification groups of the suspected drugs. Regulatory actions for the top interstitial lung disease-reporting drugs were compared. The interstitial lung disease reporting patterns of protein kinase inhibitors were compared to those of methotrexate. RESULTS: Interstitial lung disease-related label changes predominantly occurred for drugs in the anatomical therapeutic chemical classification groups L, J, C, and herbal medicines. Interstitial lung disease was reported most frequently for L group, especially for the protein kinase inhibitors. The regulatory actions for those drugs with the highest number of interstitial lung disease reports (methotrexate, protease kinase inhibitors, gemcitabine, docetaxel) plus monoclonal antibodies were analyzed. The ratio of interstitial lung disease reports to all reports over time was initially high in the re-examination period, while it was constantly low after the period expired. The increase in interstitial lung disease reporting was observed for the drugs for which interstitial lung disease was designated as a priority item in the use-results survey. Methotrexate had more interstitial lung disease reports with multiple suspected drugs and fewer reports with high completeness than the protease kinase inhibitors. CONCLUSIONS: The high rates of interstitial lung disease reporting derived from mainly the anatomical therapeutic chemical classification group L drugs. Interstitial lung disease is the targeted adverse drug reaction in the use-results survey mandated in the re-examination of those drugs. This system provides at least one explanation for the high reporting of interstitial lung disease in Japan.


Assuntos
Sistemas de Notificação de Reações Adversas a Medicamentos , Controle de Medicamentos e Entorpecentes , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Doenças Pulmonares Intersticiais/induzido quimicamente , Doenças Pulmonares Intersticiais/epidemiologia , Vigilância de Produtos Comercializados/métodos , Antimetabólitos Antineoplásicos/efeitos adversos , Rotulagem de Medicamentos , Humanos , Japão/epidemiologia , Metotrexato/efeitos adversos , Inibidores de Proteínas Quinases/efeitos adversos , Estudos Retrospectivos
16.
Soft Matter ; 14(45): 9227-9231, 2018 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-30403253

RESUMO

In this article, we propose a thermally responsive shape-memory polymer (SMP) consisting of poly(ethylene carbonate) and non-deteriorated lignin nanoparticles. This SMP was obtained readily by thermal kneading and melt molding without requiring any chemical reaction. The shape-recovering properties of the SMP can be tuned by changing the feed ratio of the components. The estimation of viscoelastic, thermal and mechanical properties of the SMP reveals that the stepwise structural transitions in the SMP rendered a dynamic shape-recovering behavior.

17.
Brain Dev ; 40(1): 16-25, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28750723

RESUMO

OBJECTIVE: Several studies have suggested that objective deficits in the processing of abstract information in conjunction with an enhanced ability to process concrete information is a definitive characteristic of autism spectrum disorder (ASD). However, this cognitive imbalance is not necessarily clear in high-functioning autistic individuals who do not display absolute differences relative to typically developing (TD) populations. Thus, the purpose of this study was to identify this cognitive tendency in high-functioning autistic individuals using intra-individual cognitive comparisons. METHODS: The reaction times (RTs) of TD children, children with ASD, and children with attention deficit hyperactivity disorder (AD/HD) (n=17 in each group, mean age=11.9years, age range=9.8-15.8years) were compared using the Which/How-to-Apply Tools (W/HAT) test, which consists of tasks requiring the adaptive use of novel tools and familiar tools in atypical and typical situations. Differences in RTs between the atypical and typical trials ([A-T]) were used to assess intra-individual cognitive imbalances. RESULTS: As predicted, the [A-T] scores of the ASD group were significantly higher than those of the TD group even though the RTs in the atypical and typical trials did not differ. Additionally, the [A-T] values were significantly higher in the ASD group than in the AD/HD group, which indicates that the cognitive imbalance was specific to ASD individuals. No significant interaction was detected between the trial and subject group. CONCLUSIONS: The findings of this study demonstrate that a cognitive imbalance in ASD individuals may enhance the current understanding of the pathophysiology of this disorder, which is found in a range of individuals, including those with obvious cortical dysfunction to those with only intra-individual imbalances.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Resolução de Problemas/fisiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno Autístico/fisiopatologia , Criança , Desenvolvimento Infantil , Cognição/fisiologia , Feminino , Humanos , Japão , Masculino , Testes Neuropsicológicos , Percepção , Tempo de Reação
18.
Brain Dev ; 39(4): 337-340, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27916450

RESUMO

We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications. Patients with a COL4A1 mutation have an increased risk for intracranial hemorrhage because of disrupted integrity in the vascular basement membrane due to the mutation. After weighing the risks and benefits to these patients, epilepsy surgery may not be absolutely contraindicated. Furthermore, pediatric neurologists should be aware of an undiagnosed COL4A1 mutation when a patient presents with an unexplained neurological phenotype, such as mild hemiparesis, even in the absence of porencephaly.


Assuntos
Colágeno Tipo IV/genética , Epilepsia/genética , Epilepsia/cirurgia , Hemisferectomia , Mutação , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Encéfalo/cirurgia , Pré-Escolar , Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Feminino , Humanos , Resultado do Tratamento
19.
Brain Dev ; 38(2): 257-60, 2016 02.
Artigo em Inglês | MEDLINE | ID: mdl-26365017

RESUMO

We described clinical course of a 24-year-old woman with 3p deletion syndrome associated with cerebellar hemangioblastoma at the age of 16 years old. She presented dysmorphic facial features, growth retardation and severe psychomotor retardation associated with 3p deletion syndrome. We identified de novo 3p deletion encompassing p25 by using array-based comparative genomic hybridization, where causative gene of von Hippel-Lindau (VHL) disease located. Surgical therapy for cerebellar hemangioblastoma was performed, and histological examination was consistent in cerebellar hemangioblastoma. She showed no other tumors associated VHL disease till 24 years old. This is the first case report of a patient with 3p deletion syndrome whose cerebellar hemangioblastoma may be associated with VHL disease. Repeat imaging studies were recommended for the patients with 3p deletion syndrome.


Assuntos
Neoplasias Cerebelares/genética , Hemangioblastoma/genética , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Adulto Jovem , Doença de von Hippel-Lindau
20.
Brain Dev ; 38(3): 341-5, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26443629

RESUMO

Neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous neurodegenerative lysosomal diseases. Fourteen distinct NCL subtypes (CLN1-CLN14) are known, and they are caused by mutations in different genes. CLN8 was first identified in Finnish patients, and the phenotype was subsequently found in Turkish, Italian, and Pakistani patients. We report a 6-year-old Japanese boy with NCL with a novel missense mutation in CLN8. At the age of 3years, he manifested frequent drop seizures, and then progressively developed motor difficulties with an ataxic gait, myoclonus, left conjugate deviation, and rotational nystagmus. At age 5, he developed profound visual difficulty and dysphagia, and he has now lost his mobility. A bone marrow examination at age 5 showed sea-blue histiocytes. An electroretinogram was non-recordable. No giant somatosensory evoked potentials were found. Brain magnetic resonance imaging revealed bilateral diffuse hyperintensities in the white matter around the lateral ventricles and cerebellar and pontine atrophy on T2-weighted images. In a lysosomal enzyme study, the palmitoyl-protein-thioesterase and pepinase activity was within normal limits. Whole-exome sequencing revealed a homozygous CLN8 mutation: c.620T>G (p.L207R). His parents were both heterozygous for this mutation. To our knowledge, this is the first report of a CLN8 mutation in late infantile NCL in Japan.


Assuntos
Proteínas de Membrana/genética , Lipofuscinoses Ceroides Neuronais/genética , Criança , Epilepsias Mioclônicas/genética , Estudos de Associação Genética , Humanos , Japão , Masculino , Mutação de Sentido Incorreto , Linhagem , Análise de Sequência de DNA
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