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1.
Pak J Med Sci ; 39(6): 1891-1893, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37936753

RESUMO

Moya Moya Disease (MDD) is a rare cerebrovascular pathology. It is non atherosclerotic cerebrovascular disease characterized by bilateral internal carotid stenosis or occlusion, and abnormal vascular network at the base of the brain. Here we report a case of young female who presented in emergency with complaints of jerky movements of limbs for six months and history of recently developed unusual high blood pressure which was followed by uremic symptoms. Her workup revealed severe renal dysfunction required kidney replacement therapy (KRT) i.e., hemodialysis. During hospital stay her mental status deteriorated with a drop in GCS. Brain imaging performed and she found to have MMD. Her clinical course continued to deteriorate despite of extensive work up and aggressive management, she died eventually.

2.
Cureus ; 15(5): e39694, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37398791

RESUMO

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by non-atherosclerotic and non-inflammatory progressive narrowing of the intracranial part of the carotid artery and its proximal branches. The disease process is commonly associated with the development of weak, dilated collateral blood vessels at the base of the brain. This gives it a classic smoky appearance on cerebral angiograms and hence the name "Moyamoya" which means "puff of smoke" in Japanese. When a patient has similar vasculopathy in the setting of another disease then it is known as Moyamoya syndrome (MMS). The associated diseases are sickle cell anemia, neurofibromatosis, long-standing diabetes, uncontrolled hypertension, or chemotherapy. Despite being known as a disease of the East Asian population, the disease is no longer exclusive to Asians, as evidenced by the rising incidence among non-Asian groups such as Caucasians, Hispanics, and African Americans. Patients can remain asymptomatic or present with ischemic or hemorrhagic stroke, headache, seizures, or recurrent transient ischemic attacks. Conventional cerebral angiography is considered the gold standard for diagnosing MMD. Treatment may be supportive, medical, or surgical. We present the case of a 42-year-old African American woman with several comorbidities who presented with sudden onset of ischemic stroke and upon further workup was found to have MMD. Equally important is to identify the most effective therapeutic approaches based on individual patients to achieve better clinical outcomes. Our case report highlights the importance of surgery in symptomatic MMD with a lack of supporting evidence indicating the benefits of dual antiplatelet therapy (DAPT).

3.
Clin Case Rep ; 11(5): e7317, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37192853

RESUMO

Coincidences in medicine are not so common. We are presenting a case of a patient diagnosed with Moya-Moya disease and antiphospholipid syndrome (APS) who presented with clinical and laboratory characteristics of catastrophic APS versus TTP. The diagnosis was a challenge because characteristics were overlapping. Nevertheless, a decision to treat the patient for TTP was made with afterward improvement. MMD has been associated with multiple immune disorders; however, only one case of acquired thrombotic thrombocytopenic purpura has been documented in association with this disease. None has been associated with catastrophic antiphospholipid syndrome. We are presenting a challenging case where all these three medical conditions were present at the same time.

4.
Cureus ; 14(8): e28108, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36127999

RESUMO

Moyamoya disease is characterized by narrowing of cerebral blood vessels and is progressive in nature. We present the case of a 21-year-old female patient who was a known case of Down's syndrome and presented with right-sided facial muscle weakness and was initially suspected of having cholesteatoma, but no evidence for the same was found after extensive radiological investigations. The suspicion of a central nervous system pathology was raised due to the clinical findings of dysphasia and supranuclear facial palsy. Magnetic-resonance angiography (MRA) was suggestive of findings of early Moyamoya disease. After a Neurologist consultation, the patient was started on conservative management with anti-platelet drugs and Statins and had symptomatic improvement. The patient was advised regular follow-up and had no fresh episodes of similar complaints.

5.
Cureus ; 14(6): e25838, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35836429

RESUMO

Schimke immuno-osseous dysplasia (SIOD) is an uncommon autosomal recessive (AR) spondylo-epiphyseal dysplasia (SED) and its clinical course and phenotype are yet to be properly described. The phenotypic presentation is quite varied with involvement of the renal, skeletal, vascular, immune, and hematopoietic systems being the most common presentation. We describe a 19-year-old female who presented with adolescent-onset brain and skeletal involvement without renal manifestations. Based on imaging and clinical features, she was diagnosed with a case of SIOD. There is no definitive treatment yet for this disorder, however, clinicians should be aware of this disorder so that adequate counseling and symptomatic management, especially in controlling hypertension and dyslipidemia, can be provided to the affected patients.

6.
Neurol India ; 69(4): 1032-1033, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34507437

RESUMO

Moya Moya disease is an important cause for childhood strokes and morbidity. An early diagnosis and treatment can prevent strokes and disability. Here we report the case of an eight-year-old boy who had transient episodes of headache and hemiparesis secondary to Moya Moya disease. He was misdiagnosed as hemiplegic migraine, seizure disorder, paroxysmal non-kinesigenic dyskinesia and dissociative disorder during the past three years. The diagnosis was significantly delayed as an important clinical cue was overlooked. A detailed history showed that symptoms were precipitated on eating spicy food. This clinical pointer prompted evaluation for Moya Moya disease. MRI and MR angiogram confirmed Moya Moya disease.


Assuntos
Ataque Isquêmico Transitório , Doença de Moyamoya , Acidente Vascular Cerebral , Criança , Cefaleia , Humanos , Masculino , Paresia
7.
Br J Ophthalmol ; 103(11): 1590-1594, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-30705042

RESUMO

PURPOSE: The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative and quantitative information. METHODS: This study was conducted on 334 consecutive patients with NF1 and 106 sex-matched and age-matched healthy control subjects. Each patient underwent a comprehensive ophthalmological examination inclusive of near-infrared reflectance retinography by using the spectral domain Optical coherence tomography (OCT), a complete dermatological examination and 1.5 T MRI scan of the brain to assess the presence of optic nerve gliomas. To evaluate the predictability and the diagnostic accuracy of our identified retinal microvascular arrangements, we calculated the diagnostic indicators for each pattern of pathology, with corresponding 95% CI. In addition, we evaluated the association between the microvascular arrangements and each National Institutes of Health diagnostic criteria. RESULTS: Microvascular abnormalities were detected in 105 of 334 NF1 patients (31.4%), the simple vascular tortuosity was recognised in 78 of 105 cases (74.3%) and whether the corkscrew pattern and the moyamoya-like type showed a frequency of 42.8% (45 of 105 cases) and 15.2% (16 of 105 cases), respectively. We found a statistically significant correlation between the presence of retinal microvascular abnormalities and the patient age (p=0.02) and between the simple vascular tortuosity, the patient age and the presence of neurofibromas (p=0.002 and p=0.05, respectively). CONCLUSIONS: We identified microvascular alterations in 31.4% of patients and a statistically significant association with patient age. Moreover, the most frequent type of microvascular alterations, the simple vascular tortuosity, resulted positively associated with age and with the presence of neurofibromas.


Assuntos
Neurofibromatose 1/diagnóstico , Doenças Retinianas/diagnóstico , Vasos Retinianos/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Manchas Café com Leite/diagnóstico , Criança , Estudos Transversais , Reações Falso-Positivas , Feminino , Humanos , Raios Infravermelhos , Imageamento por Ressonância Magnética , Masculino , Microvasos/patologia , Pessoa de Meia-Idade , Glioma do Nervo Óptico/diagnóstico , Valor Preditivo dos Testes , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Tomografia de Coerência Óptica , Adulto Jovem
8.
Clin Ter ; 170(1): e4-e9, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30789191

RESUMO

This study aims to describe a typical retinal microvascular abnormality in patients with neurofibromatosis type 1 (NF-1). A 64-year-old man with diagnosis of NF-1 was evaluated by complete ophthalmological examination, including fluorescein angiography and spectral Domain OCT in Near-Infrared (NIR-OCT) modality. Slit lamp exam showed the presence of more than 10 Lisch nodules for each eye. Ophthalmic examinations and NIR-OCT scans showed the presence of retinal tortuous vessels ending in a 'puff of smoke' arrangement. The clinical significance as diagnostic and prognostic factor of this novel type of retinal microvascular abnormality in NF-1 should be further investigated.


Assuntos
Neurofibromatose 1/patologia , Angiofluoresceinografia , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/diagnóstico por imagem , Vasos Retinianos/patologia , Tomografia de Coerência Óptica
9.
Ethiop J Health Sci ; 27(2): 193-196, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28579715

RESUMO

BACKGROUND: Moya-moya disease in children is a cerebrovascular disorder that may cause cerebral ischemic or hemorrhage. CASE DETAILS: We report an 8-year-old boy that was admitted with the chief complaint of repeated sudden half left body paralyze. MRA showed acute thrombotic infarction in the right hemisphere and internal carotid artery stenosis in the form of puffs of smokes. Indirect revascularization surgical procedure with combination of Encephalo-myo-pial-synangiosis (EMS) and Encephalo-arterio-pial-synangiosis (EAS) was performed. It resulted in a good response. CONCLUSION: Moya-moya disease can lead to permanent neurological disability if untreated. Satisfactory outcome was noted following combination surgery management with EMS and EAS.


Assuntos
Revascularização Cerebral/métodos , Doença de Moyamoya/cirurgia , Criança , Terapia Combinada , Humanos , Masculino , Resultado do Tratamento
10.
Rev Esp Anestesiol Reanim ; 63(10): 604-607, 2016 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27240737

RESUMO

OBJECTIVE: The objective of this case report is to describe the anesthetic management in a child with moya-moya disease and sickle cell anemia provided in a tertiary hospital. CASE: A 6 year-old patient, diagnosed with moya-moya disease and sickle cell anemia, both conditions associated with a greater incidence of intracranial ischemic events, with a history of two strokes of the ischemic subtype, was submitted to general anesthesia for the execution of multiple cranial burr holes in order to produce the neovascularization in poorly perfused regions. There were no complications in the perioperative period and the child was discharged from the hospital on the second postoperative day. CONCLUSION: Although scarcely described in the medical literature, the anesthetic management in a patient with moya-moya disease must ensure the maintenance of cerebral blood flow, normocapnia and the appropriate mean arterial pressure. In a patient with sickle cell disease, an adequate tissue perfusion, adequate oxygenation and hydration and strict pain control are to be primarily expected. The anesthesiologist is expected to know the physiopathology of both conditions to provide the best outcome for these patients.


Assuntos
Anemia Falciforme/complicações , Anestesia Geral , Doença de Moyamoya/complicações , Anestésicos , Circulação Cerebrovascular , Criança , Humanos , Acidente Vascular Cerebral
11.
Rev. chil. neurocir ; 41(1): 76-82, jul. 2015. ilus
Artigo em Espanhol | LILACS | ID: biblio-836047

RESUMO

Las técnicas de anastomosis extra e intracraneales se han utilizado desde los aٌos 70 para el manejo de diferentes patologيasvasculares, que van desde la enfermedad cerebrovascular hasta la exclusiَn de aneurismas y malformaciones arteriovenosasde la circulaciَn o el manejo de condiciones como la enfermedad de Moya Moya. Si bien se ha cuestionado su aplicaciَnen algunas de estas patologيas hoy en dيa se sabe que constituyen una opciَn terapéutica. Las técnicas descritas requierende un entrenamiento especializado del Neurocirujano en el laboratorio de microcirugيa, entrenamiento que no siempre estلal alcance de todos los residentes. Existen dilemas éticos en cuanto al uso de animales y es poco probable que durante losaٌos de formaciَn el residente tenga la oportunidad de realizar anastomosis vasculares en el quirَfano dada la complejidadde estos procedimientos. En el presente artيculo se describe la técnica quirْrgica y microquirْrgica para la realizaciَn de unbypass extra e intracraneal en un modelo animal (cabeza de cerdo), donde se describe paso por paso el procedimiento ylos utensilios con los que debe contar el estudiante. Se hace una revisiَn de la literatura acerca de la patologيa vascular, lastécnicas de bypass y las particularidades de la anatomيa de estos animales.


Extracranial-intracranial bypass techniques have been used since the 70’s for the handling of different vascular diseases, fromcerebrovascular disease to the exclusion of aneurysms and arteriovenous malformations from the circulation or the managementof conditions such as Moyamoya disease. Although its application has been questioned in some of these diseases weknown now that this technic constitutes a therapeutic option. The described techniques require specialized training of the neurosurgeonin the of microsurgery laboratory, training that is not always available to all residents. There are ethical dilemmasregarding the use of animals and it is unlikely that during the formative years the resident may have the opportunity to performvascular anastomosis in the operating room because of the complexity of these procedures. In this article we describe thesurgical and microsurgical techniques for carrying extra- intracranial bypass in an animal model (pig’s head), and outline stepby step the procedure and utensils which the student must have. It is a review of the literature on vascular disease, bypasstechniques and peculiarities of the anatomy of these animals.


Assuntos
Animais , Experimentação Animal , Anastomose Arteriovenosa , Fístula Arteriovenosa , Anastomose Cirúrgica/métodos , Revascularização Cerebral , Modelos Animais , Doença de Moyamoya , Microcirurgia/métodos , Hemodinâmica , Perfusão , Choque , Acidente Vascular Cerebral
12.
Rev Neurol (Paris) ; 171(1): 45-57, 2015 Jan.
Artigo em Francês | MEDLINE | ID: mdl-25555853

RESUMO

Moya-Moya disease is a rare arterial occlusive disease affecting the internal carotid artery and its branches. It is found in both pediatric and adult populations, and it may lead to severe clinical presentations such as stroke and intracranial hemorrhage. Several surgical procedures have been developed to improve its clinical outcome. Imaging techniques have a key role in management of Moya-Moya disease, as they are necessary for diagnosis, choice of treatment and follow-up. Although catheter angiography remains the diagnostic gold standard, and nuclear-medicine techniques best perform hemodynamic studies, less invasive imaging techniques have become efficient in serving these purposes. Conventional MRI and MR angiography, as well as MR functional and metabolic studies, are now widely used in each stage of disease management, from diagnosis to follow-up. CT scan and Doppler sonography may also help assess severity of disease and effects of treatment. The aim of this review is to clarify the utility, efficiency and latest developments of each imaging modality in management of Moya-Moya disease.


Assuntos
Diagnóstico por Imagem/métodos , Doença de Moyamoya/diagnóstico , Adulto , Angiografia Cerebral/métodos , Ecoencefalografia/métodos , Humanos , Angiografia por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Ultrassonografia Doppler , Dispositivos de Acesso Vascular
13.
China Medical Equipment ; (12): 35-37,38, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-601852

RESUMO

Objective: To improve the accuracy of forecasting hemorrhagic moya-moya disease by analyzing the difference in MR imaging between ischemic moya-moya disease and hemorrhagic moya-moya disease. Methods: Retrospective analysis was conducted of clinical and MR imaging data of 64 patients with moya-moya disease between 2009 and 2014 years in Hospital 94 of PLA. Results: Among the 64 patients aged 26 to 49 (average age was 38.2), 21 cases (32.8%) were diagnosed with ischemic moya-moya diseases, while 16 cases (76.2%) diagnosed with hemorrhagic moya-moya diseases, ischemic lesions were distributed mainly in frontal and parietal area, while hemorrhagic lesions were mainly distributed in the dorsal thalamus (28 cases, 65.1%), in the basal ganglia (9 cases, 20.9%), in the simple intraventricular (4cases, 9.3%) and in pure subarachnoid (2 cases, 4.6%). In the ischemic-typed moyamoya disease and hemorrhagic-typed moyamoya disease, cerebral bottom dorsal smoke abnormal vascular network, anterior choroidal artery and callosal artery thickening of the posterior cerebral artery, cortical pial vascular thickening, thickening of vascular branches of ophthalmic artery and external carotid artery thickening were respectively occurred in 15 cases of 28 branch (71.4%) and 38 cases of 62 branches (88.4%), 12 cases with 24 branches (57.1%) and 35 cases with 45 branches (81.4%), 8 cases with 16 branches (38.1%) and 30 cases with 58 branches (69.8%), 5 cases with 10 branches (23.8%) and 13 cases of the 24 branch (30.2%), 7 cases with 11 side branches (33.3%) and 27 patients with 54 branch (62.8%). Conclusion:The tortuous and dilated choroid artery and abnormal hyperplasia vascular network in skull base are the main causes of bleeding in moya-moya diseases.

14.
Am J Case Rep ; 15: 147-51, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24753782

RESUMO

PATIENT: Female, 40 FINAL DIAGNOSIS: Moya-Moya Disease Symptoms: Blurred vision • headache • lethargy MEDICATION: - Clinical Procedure: - Specialty: Neurology. OBJECTIVE: Rare disease. BACKGROUND: Moya Moya is a cerebrovasculopathy of the terminal internal carotid arteries and the proximal anterior and middle cerebral arteries. It is comparatively more common in Japan compared to Western countries. CASE REPORT: We present a patient of South-East Asian origin diagnosed with Moya Moya, confirmed on magnetic resonance angiography and later computerized tomography angiography. She was managed conservatively through medical management and lifestyle advice, and has now been enlisted into the national Moya Moya database in the UK. CONCLUSIONS: We believe this report will help advance our understanding on Moya Moya and help to elucidate the importance of a combined medical and radiological approach to this condition.

15.
Am J Case Rep ; 14: 424-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24167642

RESUMO

PATIENT: Male, 42 FINAL DIAGNOSIS: Moyamoya disease (MMD) Symptoms: Aphasia • concentration difficulty • dysarthria • personality change MEDICATION: - Clinical Procedure: - Specialty: Radiology. OBJECTIVE: Rare disease. BACKGROUND: Moyamoya disease (MMD) was first described in 1957 as "hypoplasia of the bilateral internal carotid arteries." The characteristic appearance of the associated network of abnormally dilated collateral vessels on angiography was later likened to "something hazy, like a puff of cigarette smoke," which, in Japanese, is Moyamoya. This paper describes the fulminant course of the disease in a Hispanic male involving the corpus callosum. CASE REPORT: A 42-year-old Hispanic male with progressive aphasia, slow mentation, and sudden onset of sensorimotor symptoms with gait disturbance was found to have multiple intracranial supratentorial infarcts of variable stages of evolution involving, but not limited to, the anterior corpus callosum, followed by rapid development of further infarcts. Angiography demonstrated right ACA occlusion, left supraclinoid ICA occlusion with a Moyamoya pattern of collateralization, and diffuse arteriopathy. A fulminant course ensued and the patient did not survive the acute phase of ischemic disease. CONCLUSIONS: Moyamoya disease may rarely present in North American Hispanic males, with advanced atypical clinical and imaging features involving the anterior corpus callosum and having a fulminant course.

16.
J Clin Diagn Res ; 7(3): 545-7, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23634418

RESUMO

Moyo Moya Disease (MMD) is a rare, progressively stenotic condition of the intracranial arteries with various cerebrovascular manifestations. Ocular manifestations are seen very rarely and there are only few case reports of ocular perfusion anomalies. Central Retinal Artery Occlusion (CRAO) can be caused by atherosclerosis related thrombosis, carotid embolism, cardiac embolism, thrombophilic disorders, giant cell arteritis, etc. We are reporting a 26 years old patient with CRAO in the right eye, who was found to have the typical features of MMD on cerebral angiography. CRAO with MMD is a rare occurrence.

17.
Pediatr. (Asunción) ; 37(1): 42-47, abr. 2010. graf
Artigo em Espanhol | LILACS | ID: lil-598761

RESUMO

Enfermedad esteno-oclusiva de la porción terminal de las arterias carótidas internas y de sus ramas principales (arteria carótida media y arteria carótida anterior), progresiva, prevalente en el este Asiático (Japón, Corea), muy rara en nuestro país como en el resto del mundo, de causa desconocida. Se manifiesta mas frecuentemente como un accidente cerebrovascular isquémico transitorio o permanente en los niños menores de 10 años y como accidente cerebrovascular hemorrágico en el adulto. El diagnóstico se realiza con la Angiografía Digital Cerebral y el tratamiento consiste en la revascularización cerebral, que mejora el cuadro neurológico y la calidad de vida.`Se presenta el caso de una niña de 3 años de edad con convulsiones, afasia de expresión, lúcida y hemiparesia izquierda, que luego de una franca mejoría vuelve a presentar una semana después, otra crisis más severa con compromiso de conciencia y hemiplejía derecha, cuyo estudio neurorradiológico reveló la imagen típica de volutas de humo de cigarrillo en la base del cerebro, característico de la enfermedad de Moya-Moya e intervenida quirúrgicamente con la revascularización cerebral por medio de la técnica: EncefaloDuroArterioSinangiosis (EDAS), con buen resultado.


Moya-Moya is a progressive steno-occlusive disease of the internal carotid arteries and its major branches (middle cerebral artery, and anterior cerebral artery) whose cause is unknown, and which is reported primarily in east Asia (Japan and Korea) but rare in Paraguay and the rest of the world. In children under age 10, it presents most commonly as a transient or permanent ischemic attack and in adults as a hemorrhagic stroke. Diagnosis is done by digital subtraction cerebral angiography, and treatment consists of cerebral revascularization to improve the neurological profile and quality of life. We present the case of a 3-year old female child with seizures and motor aphasia who was lucid, with left hemiparesis, and who after complete recovery presented again a week later with a more severe attack, with impaired consciousness and right hemiplegia. Radiological study revealed a typical image of swirls of 'cigarette smoke' at the base of the brain that are characteristic of Moya-Moya disease, and who was operated on using encephaloduroarteriosynangiosis (EDAS), with good results.


Assuntos
Humanos , Angiografia Cerebral , Revascularização Cerebral , Doença de Moyamoya , Pediatria , Acidente Vascular Cerebral
18.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-186195

RESUMO

A case of Moya-Moya disease with AVM is reported. It is well known that Moya-Moya disease sometimes is accompanied by cerebral aneurysm. However, only four case of Moya-Moya disease with AVM have previously been published in the world. A 36-year-old women suffered from sudden onset of mental deterioration & left hemiparesis, Brain CT scan showed intraventricular hemorrage in both lateral & 3rd ventricle. Enhanced CT scan revealed irregular enhancing area in the right posterior parietal cortex. Cerebral angiography showed an arteriovenous malformation fed by basal Moya-Moya vessels & posterior meningeal artery. Emergeny external ventricular drainge was done. 2 weeks later, the patient had operation for excision of AVM & encephalomyosynangiosis.


Assuntos
Adulto , Feminino , Humanos , Malformações Arteriovenosas , Encéfalo , Angiografia Cerebral , Aneurisma Intracraniano , Artérias Meníngeas , Doença de Moyamoya , Paresia , Rabeprazol , Tomografia Computadorizada por Raios X
19.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wpr-20083

RESUMO

The treatment of moya moya disease, a chronic occlusive cerebrovascular disease of unknown etiology, isn't settled ut various operative methods to maximize cerebral revascularization have been reported. Two cases in children treated surgically are presented, one with cerebroarteriosynangiosis and the other with encephalo-duro-arterio-synangiosis(EDAS). The methods of cerebral revascularization are discussed in detail.


Assuntos
Criança , Humanos , Revascularização Cerebral , Doença de Moyamoya
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