Presumed Perinatal Stroke in a Child with Down Syndrome and Moyamoya Disease

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Pysden, Karen; Fallon, Penny; Moorthy, Bhagavatheswaran; Ganesan, Vijeya

2010-01-01

Moyamoya disease describes a cerebral arteriopathy characterized by stenosis or occlusion of the terminal internal carotid and/or the proximal middle cerebral arteries. We report a female child with trisomy 21 and bilateral moyamoya disease who presented, unusually, with a presumed perinatal cerebral infarct. The clinical, radiological, and…

Moyamoya disease and its effect on cerebral perfusion

International Nuclear Information System (INIS)

Turner, James K.

2009-01-01

Full text: Objective: Moyamoya disease is a rare progressive occlusive disorder which affects the vasculature of the brain. It results in stroke like systems and can cause death due to haemorrhage. This poster follows the clinical case of a 12 year old South Korean Female diagnosed with Moyamoya disease in January 2004 and the role nuclear medicine played in her management. Methods: The clinical history of the patient was examined closely, with all previous medical imaging reports and nursing entries collated. An extensive literature review of Moyamoya disease was then performed using a range of resources. Results: The patient's clinical work-up involved a range of medical imaging procedures the results of which did not provide a clear pathway for clinical management. A Nuclear Medicine Cerebral Perfusion Diamox Challenge study was subsequently performed providing a critical result. The results of this study were indicative of no change in vascular reserve both pre and post Diamox infusion. Ultimately the patient's physicians then delayed the need for anastmosis surgery, with alternate methods of treatment required. Conclusion: Overall this case highlights the need for functional imaging and the importance of drug therapies including Diamox in nuclear medicine procedures. This study ensured the patients quality of life was maintained and eliminated any risk involved in performing further surgery.

Presentation of moyamoya disease with occipital hemorrhage: a case report

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Serkan Demir

2012-12-01

Full Text Available Moyamoya disease is a cerebrovascular disease which is characterized with stenosis and occlusions at the distal part of internal carotid artery and at the proximal part of anterior and middle cerebral arteries. It rarely causes temporary or recurrent hemiparesis due to intracranial hemorrhage while symptoms like headache, convulsion, nystagmus, aphasia and ataxia may also occur. In this paper, we present a case of Moyamoya disease which was diagnosed with a 23 year old female patient who was admitted to our emergency department with headache, nausea and vomiting complaints and whose radiological findings showed occipital lobe hemorrhage.

Enfermedad de moyamoya, macrocefalia y déficit intelectual en un adolescente Moyamoya disease, macrocephaly and intellectual impairment in an adolescent

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José Vargas Díaz

2013-03-01

Full Text Available El patrón moyamoya se caracteriza por un estrechamiento crónico progresivo de la porción terminal de la arteria carótida interna o sus principales ramas terminales principalmente. Los niños con moyamoya típicamente se presentan con ictus arteriales isquémicos, o con accidentes isquémicos transitorios. Se presenta el caso clínico de un adolescente, con déficit intelectual y macrocránea, con evidencia en los estudios de resonancia magnética nuclear cerebral de infartos arteriales isquémicos a repetición, e imágenes sugestivas de moyamoya, y se comprueba el patrón moyamoya por angiografía de sustracción digital. Comprobado el diagnóstico de enfermedad de moyamoya, el objetivo con este enfermo fue tratar de mejorar la irrigación cerebral, planteando la necesidad de someter al paciente a cirugía de revascularización, y, mientras esto no fuera posible, usar aspirina como antiagregante plaquetario, en un intento de impedir o disminuir el riesgo de nuevos infartos cerebrales o de accidentes transitorios isquémicos a repetición.The moyamoya pattern is characterized by chronic progressive narrowing of the terminal portion of the internal carotid artery or of its main terminal branches. Children suffering moyamoya disease regularly present with ischemic arterial ictus or transient ischemic strokes. Here is the case of an adolescent with intellectual impairment and macrocrania. The magnetic resonance imaging study of his brain showed repeated ischemic arterial infarctions and images suggestive of moyamoya disease, the pattern of which was later confirmed by digital subtraction angiography. The first objective was to intend to improve his cerebral irrigation by performing a revascularization surgery, but as long as this action was not accomplished, then taking aspirin as anti-platelet aggregation drug could prevent or reduce the risk of new cerebral infarctions or of repeated transient ischemic strokes.

Adult Moyamoya disease angiographic images evolutive characters and treatment methods

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Qian Jiangnan; Ling Feng

2000-01-01

Objective: To discuss the angiographic images with evolutional characters and the treatment methods of the Moyamoya disease. Methods: The clinical manifestations, the radiographic changes and the comparative analysis between medicine treatment and surgery treatment, together with the laboratory tests findings were analyzed in one cases adult Moyamoya disease during six years. Conclusions: The angiographic characteristics of MMD show the supplied artery trunk stenosis, and followed by occlusion, with later appearance of vascular smoking sign. Medical treatment proved to be of null. Direct or indirect intra or extra cranial vascular anastomosis are effective for treatment

Moyamoya disease and sagittal sinus thrombosis in a child with Down's syndrome

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Del-Rio Camacho, G.; Leal Orozco, A.; Camino Lopez, M.; Ruiz-Moreno, M.; Perez-Higueras, A.; Al-Assir, I.

2001-01-01

A girl with Down's syndrome, moyamoya disease and sagittal sinus thrombosis is described. She was diagnosed after acute neurological deterioration by MRI and angiography. Recombinant tissue plasminogen activator (r-TPA) was injected locally to recanalise the thrombus. The patient's condition significantly improved and she was discharged. After 2 years of follow-up the child remains asymptomatic. Moyamoya syndrome and cerebral venous thrombosis should not be overlooked as a cause of acute neurological deterioration in a child with Down's syndrome. MRA appears to be a safe and accurate alternative to traditional angiography for the diagnosis of moyamoya disease. Local fibrinolysis with r-TPA is the treatment of choice for cerebral venous thrombosis due to its safety and efficacy. (orig.)

Cases similar to the cerebrovascular 'Moyamoya disease'. Investigation by angiography and computed tomography

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Tomura, Noriaki; Inugami, Atsushi; Higano, Shuichi; Fujita, Hideaki; Abe, Toushi; Shishido, Fumio; Uemura, Kazuo

1988-10-01

Findings of cerebral computed tomographies were investigated in 13 patients who did not satisfy the criteria of cerebrovascular Moyamoya disease, but showed the Moyamoya vessels (so-called pseudo-Moyamoya disease). Their ages ranged from 15 to 70 years old. Single patients were diagnosed as having pituitary adenoma after radiation therapy, head trauma, aplastic anemia, and the Rainoud phenomenon, and five as having hypertension. Angiography revealed occlusion and stenosis in the unilateral carotid forks in 7 and 5 patients, respectively. Other appearances included transdural anastomosis via the superficial temporal arteries, the anterior ethmoid arteries, and the collateral pathway from the perforating branches to the cortical branches. Low density areas were seen on CT in 10 patients, seven of whom had multiple areas. Low density areas were seen in the cerebral basal ganglia, watershed zone, and the outer side of the lateral cerebral body, in that order. Four patients had intracranial hemorrhage, subarachnoid hemorrhage, and hemorrhage infarction. Pseudo-Moyamoya disease was sometimes of the incomplete form of the cerebrovascular Moyamoya disease, and attributable to arterial stenosis or constricture due to radiation therapy. (Namekawa, K.).

Thyroid Autoantibodies and the Clinical Presentation of Moyamoya Disease: A Prospective Study.

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Lanterna, Luigi A; Galliani, Silvia; Zangari, Rosalia; Conti, Luciano; Brembilla, Carlo; Gritti, Paolo; Colleoni, Maria Luisa; Bernucci, Claudio

2018-05-01

Moyamoya is a rare cerebrovascular disease characterized by the progressive occlusion of the intracranial carotid artery. Thyroid autoantibodies have been found to be associated with the disease, but their clinical significance has never been studied. The objective of this study was to investigate the relationship between thyroid autoantibodies and the clinical presentation of moyamoya. This is a prospective study including 37 patients with moyamoya disease (MMD) or unilateral moyamoya (uMM). Thyroid function and thyroid autoantibodies (e.g., antithyroperoxidase and antithyroglobulin) were investigated. We studied the effect of gender, age, type of moyamoya (uMM versus MMD), and thyroid autoantibodies on the clinical presentation, dichotomized into aggressive (hemorrhage, major stroke, or frequent transient ischemic attack [TIA]) and nonaggressive presentation (headache, rare TIAs, and incidental diagnosis) according to the criteria of the Research Committee on Spontaneous Occlusion of the Circle of Willis. Of the 37 patients included in the study, the autoantibodies were elevated in 9 (24.3%). An aggressive presentation occurred in 21 patients (hemorrhage in 11, major stroke in 9, frequent TIAs in 1). The autoantibodies were elevated in 8 of the 21 patients (38.09%) with an aggressive presentation and in 1 of those presenting with minor symptoms (6.2%). The presence of elevated autoantibodies was the only variable associated with an aggressive presentation in the multivariate logistic analysis (P = .048). When the serum concentration of the thyroid autoantibodies is increased, the patients have a higher risk of an aggressive presentation. Our results support the hypothesis that activation of immune-mediated processes affects the moyamoya physiopathology. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Cerebral hemodynamics in adult ischemic-type patients with moyamoya disease compared with those of atherothrombotic middle cerebral artery occlusion

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Idei, Masaru; Yamane, Kanji; Nishida, Masahiro; Manabe, Kazufumi; Yokota, Akira

2005-01-01

We measured regional cerebral blood flow (rCBF) in adult ischemic-type patients with moyamoya disease and in patients with atherothrombotic middle cerebral artery occlusion (MCAO) to investigate cerebral hemodynamics in adult ischemic-type of moyamoya disease. In this study we measured rCBF and regional cerebro-vascular response (rCVR) using acetazolamide by Xe-non-enhanced CT. Our subjects consisted of 15 adult ischemic-type patients with moyamoya disease and 27 atherothrombotic stroke patients with proximal occlusion of the middle cerebral artery. The region of inter est was conducted in the anterior cerebral artery, middle cerebral artery and posterior cerebral artery territories as well as basal ganglia regions. rGBF was preserved in all regions of patients with moyamoya disease. However, rCVR severely decreased in the anterior circulation territory in patients with moyamoya disease compared with those of MCAO. These results suggest that rCBF in the anterior circulation territory of adult ischemic-type patients with moyamoya disease is preserved by vasodilation of the cerebral arteries, while cerebral hemodynamic reserve capacity is severely reduced. The results indicated that basal moyamoya vessels are dilated. These findings may be one of the reasons why stroke occurs more frequently in adult than child patients with moyamoya disease. (author)

Evaluation of regional cerebral circulation and metabolism in moyamoya disease using positron emission computed tomography

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Kuwabara, Yasuo

1986-01-01

Regional cerebral blood flow, oxygen extraction fraction, metabolic rate of oxygen, blood volume and transit time were evaluated in 11 patients with moyamoya disease and 3 with suspected moyamoya disease using positron emission computed tomography. Eight of them were examined before and after EC-IC bypass surgery. Moyamoya patients were classified into four groups, namely, pediatric bilateral chronic type (over 5 years from onset), pediatric bilateral early type (within 5 years from onset), pediatric unilateral early type and adult type, according to age, duration of disease from onset and angiographic findings. These four groups showed different patterns on PET images; diffusely decreased CBF and CMRO2 in pediatric bilateral chronic type, decreased CBF and increased OEF in the frontal or temporoparietal region in pediatric bilateral early type, diffusely decreased CBF and increased OEF in the unilateral cerebral hemisphere in pediatric unilateral cerebral hemisphere in pediatric unilateral early type, and decreased CBF and CMRO2 in adult type. An increase of rCBV was demonstrated in frontal regions or basal ganglia in all groups, more prominently in pediatric patients. This was thought to be a common finding in moyamoya disease, corresponding to moyamoya vessels. Staging of moyamoya disease by PET was presented and compared to the angiographic staging. They were significantly correlated, and the stage 3 on PET image with decreased CMRO2 corresponded to the stage 3 or 4 on angiography, the most active stage of moyamoya disease. PET revealed increased CBF in the cortical area around EC-IC bypass but no remarkable changes in mean values of rCBF, OEF, CMRO2 and CBV in cerebral hemisphere. Some patients showed decreased rCBV in the basal ganglia. (J.P.N.)

Cerebral infarction following intracranial hemorrhage in pediatric Moyamoya disease - A case report and brief review of literature

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Soumya Patra

2012-01-01

Full Text Available Moyamoya disease is a clinical entity characterized by progressive cerebrovascular occlusion with spontaneous development of a collateral vascular network called Moyamoya vessels. This disease mainly manifests as cerebral ischemia. Intracranial bleeding is another major presentation of patients with Moyamoya disease. We report here a 12-year-old male child who presented with severe headache, vomiting and meningismus. Initial neuroimaging study with noncontrast computed tomography scan revealed fresh intraventricular hemorrhage in right-sided lateral ventricle. Magnetic resonance imaging with angiography of brain was done 5 days later when the child developed right-sided hemiparesis, and the diagnosis of Moyamoya disease was confirmed along with lacunar infarction of right posterior peri and paraventricular area and in the left paraventricular area and centrum semiovale. Simultaneous presence of cerebral infarction along with intraventricular hemorrhage in adult with bleeding-type Moyamoya disease is reported in literature, but it is a rare entity in a child.

A study on measurement of the regional cerebral blood flow using autoradiographic method in moyamoya disease

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Sasaki, Tomohiro; Kiya, Katsuzo; Yuki, Kiyoshi; Kawamoto, Hitoshi; Mizoue, Tatsuya; Kiura, Yoshihiro; Uozumi, Tohru; Ikawa, Fusao

1997-01-01

Development of Autoradiographic method (ARG) has provided measurement of cerebral blood flow in moyamoya disease. We evaluate a cerebral vasodilatory capacity (CVC) for moyamoya disease using ARG method. We used 5 patients with moyamoya disease as a candidate for measurement of the cerebral blood flow (CBF) who admitted to Hiroshima Prefectural Hospital during the past one year. There were 3 patients in an adult age and 2 patients in a young age. We tried to measure the regional CBF (rCBF) using ARG method which was a easy way to estimate the rCBF on SPECT. The CVC was calculated from the difference of the rCBF between resting SPECT and Diamox-loading SPECT. Results were as follows; Reactivity of cerebral vessels to CO 2 loading and CVC weakened in moyamoya disease. The rCBF and CVC in the territories of anterior and middle cerebral arteries reduced in comparison with those in the area supplied by the posterior cerebral artery. The CVC at the treated side with surgical reconstruction recovered somewhat in an adult type. From these results, measurement of CBF using ARG method seems to be useful for evaluation of the CVC in moyamoya disease. (author)

Anestesia em paciente portadora de doença de moyamoya: relato de caso Anestesia en paciente portadora de enfermedad de moyamoya: relato de caso Anesthesia in patient with moyamoya disease: case report

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Adriano Bechara de Souza Hobaika

2005-06-01

, la paciente fue mantenida en normocapnia y normotermia. La extubación fue realizada y la paciente transferida a la sala de recuperación pos-anestésica sin complicaciones. CONCLUSIONES: Este artículo presenta los cuidados anestésicos dados a una paciente portadora de la enfermedad de moyamoya.BACKGROUND AND OBJECTIVES: Moyamoya disease is an uncommon progressive cerebral vasculopathy, more frequently diagnosed among Asian individuals, but which has also been described in Brazil. Moyamoya patients may be submitted to different surgical procedures throughout their lives. Anesthesiologists must understand the pathophysiology of the disease and institute adequate perioperative measures to improve patients' prognosis. CASE REPORT: Female patient, 22 yr-old, chronic renal failure, with moyamoya disease, scheduled for surgical arterial-venous fistula installation. Anesthesia was induced with fentanyl, propofol and atracurium and maintained with sevoflurane. Patient was maintained in normocapnia and normothermia throughout the procedure. Patient was extubated and transferred to the post-anesthetic care unit without complications. CONCLUSIONS: This article describes the anaesthetic care of a moyamoya disease patient.

Leptomeningeal high signal intensity (ivy sign) on fluid-attenuated inversion-recovery (FLAIR) MR images in moyamoya disease

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Fujiwara, Hirokazu [Department of Diagnostic Radiology, School of Medicine, Keio University, Tokyo 1608582 (Japan)]. E-mail: hirokazu_fujiwara@ybb.ne.jp; Momoshima, Suketaka [Department of Diagnostic Radiology, School of Medicine, Keio University, Tokyo 1608582 (Japan); Kuribayashi, Sachio [Department of Diagnostic Radiology, School of Medicine, Keio University, Tokyo 1608582 (Japan)

2005-08-01

Purpose: There are a few reports on leptomeningeal high signal intensity (LMHI: ivy sign) on fluid-attenuated inversion-recovery (FLAIR) images in moyamoya disease, but the feature of this finding has not been completely understood. The purpose of this study was to characterize LMHI on FLAIR images in moyamoya disease and to assess usefulness of this finding in the diagnosis of moyamoya disease in conventional MR imaging. Material and methods: MR imaging of 28 patients with moyamoya disease was retrospectively reviewed. The grade of LMHI on FLAIR images was classified as 'absent,' 'minimal,' 'moderate' and 'marked.' Fifty-four hemispheres of 28 patients (2 patients had unilateral disease) were assessed for the frequency of visualization and distribution of LMHI. The correlations between LMHI on FLAIR images, moyamoya vessels on T1- and T2-weighted images and MR angiography findings were also analyzed. Results: Moderate and marked LMHI was seen in 31 out of 54 hemispheres (57%). LMHI was seen more prominently in the frontal and parietal lobes than in the temporal and occipital lobes. Although there was a tendency for LMHI on FLAIR images to be prominent in groups with moderate and marked moyamoya vessels on T1- and T2-weighted images, there was no significant correlation. More prominent LMHI was observed in the hemispheres in which cortical branches of the middle cerebral arteries were poorly visualized on MR angiography. Conclusion: Leptomeningeal high signal intensity (ivy sign) on FLAIR images is predominantly seen in the frontal and parietal lobes. Because this sign can be seen in patients with unremarkable moyamoya vessels, LMHI is a useful sign in conventional MR imaging for the diagnosis of moyamoya disease.

Bilateral Moyamoya Disease in a 2-Year-Old Pakistani Male Treated with Bilateral Encephaloduroarteriosynangiosis: A Positive Outcome

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Shahvaiz Magsi

2016-01-01

Full Text Available Background. We present a rare case of bilateral moyamoya disease presenting as multiple strokes and neurological deficits, treated with the neurosurgical procedure, encephaloduroarteriosynangiosis (EDAS, in a 2-year-old male Pakistani minor. A positive outcome was achieved and the patient recovered fully. Case Summary. Our patient presented with a history of seizures and multiple episodes of hemiparesis (on and off weakness at the age of 2 years. He had a delayed speech development and could not speak more than a few words. He had a slight slurring of speech too. He was diagnosed with bilateral moyamoya disease on Computed Tomography Angiography (CTA. Bilateral EDAS was done in the same year, after which his symptoms improved and patient had moderate functional recovery. Conclusion. A rare disease, moyamoya has been left unexplored in Pakistan; physicians and surgeons when dealing with cases in the pediatric population presenting with symptoms of stroke, signs of generalized weakness, and seizures should consider moyamoya disease as a possibility. Furthermore, this case demonstrates the effectiveness of EDAS procedure for the treatment of moyamoya disease.

Focal time-to-peak changes on perfusion MRI in children with Moyamoya disease: correlation with conventional angiography

International Nuclear Information System (INIS)

Choi, Hyun Seok; Kim, Dong-Seok; Shim, Kyu-Won; Kim, Jinna; Kim, Eun Soo; Lee, Seung-Koo

2011-01-01

Background: Moyamoya disease is a chronic progressive steno-occlusion of the distal internal carotid arteries with unknown etiology. As the classical presentation of childhood Moyamoya disease is ischemic stroke, cerebral hemodynamic evaluation is important for patient selection for surgery to prevent recurrent ischemic attacks. Perfusion MR imaging has been applied to evaluate cerebral hemodynamics. Purpose: To correlate the 'basal time-to-peak preservation sign', 'auto-synangiosis sign', and 'posterior involvement sign' on time-to-peak map of perfusion MRI with catheter angiography. Material and Methods: Thirty-four children (6.91 ± 3.08 years) with Moyamoya disease who underwent both perfusion-weighted MRI and catheter angiography were enrolled in this study. Given catheter angiography as a reference standard, basal time-to-peak preservation sign, auto-synangiosis sign, and posterior involvement sign were evaluated on time-to-peak maps. Results: The basal time-to-peak preservation sign was accurate for the diagnosis of childhood Moyamoya disease; both sensitivity and specificity were 100%. The auto-synangiosis sign showed lower sensitivity (65%), however, with an acceptable specificity (98%). The posterior involvement sign showed lower sensitivity (61%) but had an acceptable specificity (96%). Conclusion: The basal time-to-peak preservation sign may be a universal finding in childhood Moyamoya disease. The auto-synangiosis and posterior involvement sign may be useful in determining transdural collateral status and posterior circulation involvement in childhood Moyamoya disease

Computed tomographic evaluation in 8 patient of cerebrovascular moyamoya disease

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Ko, Young Tae; Lee, Jung Suk; Suh, Soo Jhi; Kim, Soon Yong [School of Medicine, Kyung-Hee University Hospital, Seoul (Korea, Republic of)

1980-12-15

CT findings in eight cerebrovascular moyamoya disease were compared with carotid angiographic findings and the results were as follows: 1. The patient's age was ranged from 2 to 49 years. Of eight patients, five were less than 17 years old and the rests were two 23 years and one 49 years of age. 2. Except one 6 years old boy, all of them were female patients. 3. In precontrast CT scan of 8 cases, 6 cases of cortical atrophy, 6 cases of ventricular dilatation and 5 cases of low density area were observed. In postcontrast study the children group shows abnormal contrast enhancement in 3 out of 5 patients but all adult reveal no contrast enhancement. 4. The isodense area in CT were thought to represent good collateral manifested by angiographic moyamoya vascular network and leptomeningeal anastomosis while the low density area in CT appears to poor colleaterals manifested by transdural anastomosis. 5. To evaluate the possibility of this disease, carotid angiography should be performed to the hemiplgic child who shows multiple low density area and abnormal enhancement in CT scan. 6. CT is not only reliable for evaluation of ventricular hemorrhage but also brain damage in patients with moyamoya disease.

Risk factors of moyamoya disease in Canada and the USA.

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Peerless, S J

1997-10-01

Over the past 28 years, 39 patients with Moyamoya disease or syndrome defined as spontaneous occlusion of the circle of Willis with extensive basal collateral vessels have been treated by the author in Canada and the USA. All patients presented with clinical or radiologic evidence of hemorrhage (23) or ischemia and infarction (16). A total of 12 patients had associated cerebral aneurysms and seven of these patients with aneurysms presented with subarachnoid hemorrhage. The patients ages ranged from 5 to 47 years. Of these 58% were female. The patients racial origin included North American Indian, Innuit, East Indian/Pakistani, Japanese, Chinese, Filipino, Korean, Malayasian, Hispanic, African American and Caucasian. Familial clustering was seen in North American Indian, Innuit and Caucasian patients. Associated disorders (tuberculosis, pharyngitis, thalassemia, fibromuscular hyperplasia, polycystic kidney, sickle cell trait and hypertension) were common in these patients, as was the use of tobacco, alcohol and in the adult females, oral contraceptives. It may be concluded from this series that the etiology of Moyamoya disease or syndrome is probably multifactorial, but that some racial and familial groups are more susceptible. Furthermore, in that the clinical and angiographic features are identical, the separation between Moyamoya disease and syndrome may not be helpful in understanding the etiology and pathophysiology of this disorder.

Edaravone Reduces Hyperperfusion-Related Neurological Deficits in Adult Moyamoya Disease: Historical Control Study.

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Uchino, Haruto; Nakayama, Naoki; Kazumata, Ken; Kuroda, Satoshi; Houkin, Kiyohiro

2016-07-01

Postoperative hyperperfusion-related transient neurological deficits (TNDs) are frequently observed in adult patients with moyamoya disease who undergo direct bypass procedures. The present study evaluated the effect of the free radical scavenger edaravone on postoperative hyperperfusion in adult moyamoya disease. This study included 92 hemispheres in 72 adult patients who underwent direct bypass for moyamoya disease. Serial measurements of cerebral blood flow were conducted immediately after surgery and on postoperative days 2 and 7. In 40 hemispheres for 36 patients, edaravone (60 mg/d) was administered from the day of surgery to postsurgical day 7. The incidence of postoperative hyperperfusion and associated TNDs were compared with a control group that included 52 hemispheres in 36 patients. Radiological hyperperfusion was observed in 28 of 40 (70.0%) and 39 of 52 (75.0%) hemispheres in the edaravone and control groups, respectively (P=0.30). Hyperperfusion-related TND incidences were significantly lower in the edaravone group compared with the control group (12.5% versus 32.7%; P=0.024). Multivariate analysis demonstrated that edaravone administration (P=0.009) and left-sided surgery (P=0.037) were significantly correlated with hyperperfusion-related TNDs (odds ratios, 0.3 and 4.2, respectively). Perioperative administration of edaravone reduced the incidence of hyperperfusion-related TNDs after direct bypass procedures in adult patients with moyamoya disease. © 2016 American Heart Association, Inc.

Localized 1H-MR spectroscopy in moyamoya disease before and after revascularization surgery

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Lim, Soo Mee; Choi, Hye Young; Suh, Jung Soo [Ewha Womans University Hospital, Seoul (Korea, Republic of); Lee, Jung Hee; Lim, Keun Ho; Suh, Dae Chul; Lee, Ho Kyu; Lim, Tae Hwan; Ra, Young Shin [Ulsan University College of Medicine, Seoul (Korea, Republic of)

2003-06-01

To evaluate, using localized proton magnetic resonance spectroscopy (1H-MRS), the cerebral metabolic change apparent after revascularization surgery in patients with moyamoya disease. Sixteen children with moyamoya disease and eight age-matched normal controls underwent MR imaging, MR angiography, conventional angiography, and {sup 99m}Tc- ECD SPECT. Frontal white matter and the basal ganglia of both hemispheres were subjected to localized {sup 1}H-MRS, and after revascularization surgery, four patients underwent follow-up {sup 1}H-MRS. Decreased NAA/Cr ratios (1.35{+-}0.14 in patients vs. 1.55{+-}0.24 in controls) and Cho/Cr ratios (0.96{+-}0.13 in patients vs. 1.10{+-}0.11 in controls) were observed in frontal white matter. After revascularization surgery, NAA/Cr and Cho/Cr ratios in this region increased. In the basal ganglia, there is no abnormal metabolic ratios. Localized 1H-MRS revealed abnormal metabolic change in both hemispheres of children with moyamoya disease. Because of its non-invasive nature, {sup 1}H-MRS is potentially useful for the preoperative evaluation of metabolic abnormalities and their postoperative monitoring.

Localized 1H-MR spectroscopy in moyamoya disease before and after revascularization surgery

International Nuclear Information System (INIS)

Lim, Soo Mee; Choi, Hye Young; Suh, Jung Soo; Lee, Jung Hee; Lim, Keun Ho; Suh, Dae Chul; Lee, Ho Kyu; Lim, Tae Hwan; Ra, Young Shin

2003-01-01

To evaluate, using localized proton magnetic resonance spectroscopy (1H-MRS), the cerebral metabolic change apparent after revascularization surgery in patients with moyamoya disease. Sixteen children with moyamoya disease and eight age-matched normal controls underwent MR imaging, MR angiography, conventional angiography, and 99m Tc- ECD SPECT. Frontal white matter and the basal ganglia of both hemispheres were subjected to localized 1 H-MRS, and after revascularization surgery, four patients underwent follow-up 1 H-MRS. Decreased NAA/Cr ratios (1.35±0.14 in patients vs. 1.55±0.24 in controls) and Cho/Cr ratios (0.96±0.13 in patients vs. 1.10±0.11 in controls) were observed in frontal white matter. After revascularization surgery, NAA/Cr and Cho/Cr ratios in this region increased. In the basal ganglia, there is no abnormal metabolic ratios. Localized 1H-MRS revealed abnormal metabolic change in both hemispheres of children with moyamoya disease. Because of its non-invasive nature, 1 H-MRS is potentially useful for the preoperative evaluation of metabolic abnormalities and their postoperative monitoring

Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.

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Lo, Fu-Sung; Wang, Chao-Jan; Wong, Mun-Ching; Lee, Ni-Chung

2015-06-01

Moyamoya disease is a unique chronic cerebrovascular condition caused by progressive stenosis of the arteries around the circle of Willis with prominent arterial collateral circulation. Noonan-like syndrome with loose anagen hair (NSLH) is characterized by short stature, characteristic facial phenotype, darkly pigmented and hairless skin, mild psychomotor delay with attention deficit disorder, and easily pluckable, sparse, thin, slow growing hair. Mutations in SHOC2 have been reported to underlie NSLH. In this paper, we describe two individuals with NSLH who also have moyamoya disease and in whom heterozygous germline mutation in SHOC2 was found. © 2015 Wiley Periodicals, Inc.

High rebleeding risk associated with choroidal collateral vessels in hemorrhagic moyamoya disease: analysis of a nonsurgical cohort in the Japan Adult Moyamoya Trial.

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Funaki, Takeshi; Takahashi, Jun C; Houkin, Kiyohiro; Kuroda, Satoshi; Takeuchi, Shigekazu; Fujimura, Miki; Tomata, Yasutake; Miyamoto, Susumu

2018-03-02

OBJECTIVE Choroidal collateral vessels typical of moyamoya disease have received attention as a potential bleeding source. The authors' previous angiographic cross-sectional analysis suggested a possible association between choroidal collaterals and posterior hemorrhage, indicating a high risk for rebleeding. The present longitudinal analysis is intended to determine whether choroidal collaterals are a predictor of rebleeding in hemorrhagic moyamoya disease. METHODS The Japan Adult Moyamoya Trial group designed an ancillary cohort study using 5-year follow-up data on 37 patients included in the nonsurgical arm of the original randomized controlled trial and compared the rebleeding rate of those with and those without choroidal collaterals, represented by the connection between the anterior or posterior choroidal arteries and the medullary arteries. An expert panel determined whether a choroidal collateral was present in each patient through the measurement of baseline angiography studies. The rebleeding rate comparison was adjusted for age, diagnosis of hypertension, and involvement of the posterior cerebral artery. RESULTS Choroidal collaterals were present in 21 patients (56.8%). The rebleeding rate was 13.1% per year in the collateral-positive group as compared with 1.3% in the negative group (p = 0.008, log-rank test). The adjusted hazard ratio for rebleeding in the collateral-positive group relative to the negative group remained statistically significant (HR 11.10, 95% CI 1.37-89.91). Radiographic assessment of the collateral-positive group revealed good correspondence between the distribution of collaterals and rebleeding sites. CONCLUSIONS Results of this study suggest that choroidal collaterals are a bleeding source with a high risk for hemorrhagic recurrence and a predictor of rebleeding in hemorrhagic moyamoya disease.

Clinical significance of posterior cerebral artery stenosis/occlusion in moyamoya disease

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Kuroda, Satoshi; Ishikawa, Tatsuya; Iwasaki, Yoshinobu [Hokkaido Univ., Sapporo (Japan). Graduate School of Medicine; Houkin, Kiyohiro [Sapporo Medical Univ. (Japan)

2002-12-01

The present study was aimed at clarifying the clinical significance of posterior cerebral artery (PCA) stenosis/occlusion in pediatric and adult moyamoya disease. This study included a total of 132 patients (52 children and 80 adults) who were diagnosed as by cerebral angiography having moyamoya disease. CT or MRI was performed to examine the location of cerebral infarction in all subjects. Cerebral blood flow and vasoreactivity to acetazolamide were measured in 80 patients before surgery, using single photon emission computed tomography (SPECT). Three-dimensional MR angiography (3D-MRA) was repeated in 32 pediatric patients after surgery in order to clarify the natural course of the PCA stenosis/occlusion. Of 264 sides in 132 patients, PCA stenosis/occlusion was observed in 50 sides of 40 patients (30.3%). Its incidence was significantly higher in ischemic-type patients than in hemorrhagic-type and asymptomatic patients, and was higher in patients in the advanced stage of the disease. The hemisphere ipsilateral to PCA stenosis/occlusion had higher incidence of ischemic symptoms, cerebral infarction, and impaired cerebral hemodynamics. Transient ischemic attack (TIA) (hemianopsia) or cerebral infarction in the occipital lobe was noted in 4 (10%) of 40 patients during follow-up periods after bypass surgery for anterior circulation. Of 32 pediatric patients, none showed progression of PCA stenosis on 3D-MRA during follow-up periods. The present study showed that the involvement of PCA could increase the risk of TIA and/or cerebral infarction in both anterior and posterior circulation areas, suggesting that the PCA plays an important collateral role in moyamoya disease. (author)

Endovascular treatment of basilar tip aneurysms associated with moyamoya disease

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Arita, K.; Kurisu, K.; Ohba, S.; Shibukawa, M.; Kiura, H.; Sakamoto, S.; Uozumi, T.; Nakahara, T.

2003-01-01

We report the efficacy and safety of endovascular treatment of basilar tip aneurysms (BTA) in five patients with moyamoya disease. The patients underwent intra-aneurysmal embolisation with detachable platinum coils. Three BTA presented with subarachnoid haemorrhage (SAH); the other two were asymptomatic. In four cases, one embolisation procedure produced >95% angiographic obliteration of the aneurysm. In the other patient, 80-90% obliteration was achieved initially, but due to growth of the residual aneurysm, the procedure was repeated 7 months later. Two patients experienced transient oculomotor paresis as a procedure-related complication. Mean follow-up was 43.6±34.0 months (range 8-92 months). One patient died of putaminal haemorrhage unrelated to the aneurysm 15 months after embolisation. The other four had no subsequent SAH and survived without sequelae. Endovascular embolisation using detachable platinum coils proved to be a safe and efficient treatment modality for BTA associated with moyamoya disease. (orig.)

Treatment of pediatric moyamoya disease by simultaneous bilateral dual EDASs

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Shimoji, Takeyoshi; Nagamine, Tomoaki; Yamashiro, Katumi

2007-01-01

Treatment of moyamoya disease should be considered, especially in children in whom the disease develops rapidly and causes mental retardation. To address these concerns, we have been treating these patients with simultaneous bilateral dual encephaloduro-arterio-synangiosis (EDAS). The patients were 12 children and one adult. Ten of the children developed symptoms under 6 years of age. Their initial symptoms were transient ischemic attack (TIA) in 7, convulsions in 2, hemiparesis secondary to infarction and hemorrhage in 2, TIA and convulsion in 1, and headache in 1. All patients had diagnosis made by the cerebral angiography. All of them underwent EDAS using anterior and posterior branches of superficial temporal artery simultaneously and bilaterally. In this procedure, it is important to dissect both branches more than 10 cm. The mean operation time was 8 hours 25 minutes. Postoperatively, two patients developed hemiparesis secondary to cerebral infarction; both, however, recovered with the aid of rehabilitation. TIAs decreased immediately after surgery and disappeared in a couple of years except in one case. Convulsions ceased immediately. One patient with pre-op TIA developed convulsions 2 years after surgery. Headaches decreased in frequency. One developed cerebral infarction after surgery and mental status deteriorated, but the others maintained stable mental condition post-operatively. Post-operative angiographies were performed 3 and 9 months after surgery. Most patients attained excellent revascularization in the frontal to parietal regions except for three cases. Two of them finally showed good anastomosis 2 and 8 years later. One remained poor because the patient still had early stage of moyamoya disease. It may be postulated that the use of simultaneous bilateral dual EDAS prevents the rapid progression of and the development of mental problems seen in child moyamoya disease. (author)

Ischemic Stroke in Young Adults with Moyamoya Disease: Prognostic Factors for Stroke Recurrence and Functional Outcome after Revascularization.

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Zhao, Meng; Deng, Xiaofeng; Gao, Faliang; Zhang, Dong; Wang, Shuo; Zhang, Yan; Wang, Rong; Zhao, Jizong

2017-07-01

Stroke in young adults is uncommon and rarely described. Moyamoya disease is one of the leading causes of stroke in young adults. We aimed to study the prognostic factors for stroke recurrences and functional outcomes in young stroke patients with moyamoya disease after revascularization. We reviewed 696 consecutive patients with moyamoya disease admitted to our hospital from 2009-2015 and identified patients aged 18-45 years with first-ever stroke. Follow-up was conducted via face-to-face or structured telephone interviews. Outcome measures were recurrent stroke events and unfavorable functional outcomes (modified Rankin Scale >2). We included 121 young patients with moyamoya disease suffering from stroke (initial presentation age, 35.4 ± 7.5 years). All patients underwent revascularization after the acute phase of initial stroke events as the secondary prevention for recurrences. During follow-up (median, 40 months), 9 patients (7.4%) experienced recurrent strokes and 8 of them (6.6%) suffered unfavorable functional outcomes. In the multivariate analysis, diabetes was an independent predictor for stroke recurrences (hazard ratio 6.76; 95% confidence interval 1.30-35.11; P = 0.02) and was significantly associated with unfavorable functional outcomes (odds ratio 7.87; 95% confidence interval 1.42-38.74; P = 0.01). We identified diabetes as an independent risk factor for recurrent strokes and unfavorable functional outcomes after revascularization in young stroke patients with moyamoya disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Diagnosis of moyamoya disease using 3-T MRI and MRA: value of cisternal moyamoya vessels

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Sawada, Takeshi; Yamamoto, Akira; Okada, Tomohisa; Kanagaki, Mitsunori; Kasahara, Seiko; Togashi, Kaori [Kyoto University, Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto (Japan); Miki, Yukio [Osaka City University, Department of Radiology, Graduate School of Medicine, Osaka (Japan); Kikuta, Ken-ichiro [Fukui University, Division of Neurosurgery, Department of Sensory and Locomotor Medicine, Faculty of Medical Sciences, Fukui (Japan); Miyamoto, Susumu; Takahashi, Jun C. [Kyoto University, Department of Neurosurgery, Graduate School of Medicine, Kyoto (Japan); Fukuyama, Hidenao [Kyoto University, Human Brain Research Center, Graduate School of Medicine, Kyoto (Japan)

2012-10-15

The purpose of this study was to propose new magnetic resonance (MR) criteria of diagnosing moyamoya disease (MMD) from cisternal moyamoya vessels (MMVs) on 3-T magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) and compare the diagnostic accuracy of the existing MR criteria and the proposed MR criteria. Participants comprised 20 consecutive patients with MMD (4 males, 16 females) diagnosed clinically using conventional angiography and 20 controls (13 male and 7 female arteriosclerosis patients). In these participants, 3-T MRI/MRA was evaluated by the existing MR criteria, which use MMVs in the basal ganglia, and the proposed MR criteria, which use cisternal MMVs, and then these two criteria were statistically compared by McNemar's test. Diagnostic accuracy was 62.5% with the existing MR criteria and 97.5% with the proposed MR criteria. The proposed MR criteria was more sensitive (1.00) than the existing MR criteria (0.45), but less specific (0.95) than the existing MR criteria (1.00). The proposed MR criteria using cisternal MMVs showed significantly higher diagnostic accuracy than the existing MR criteria. We believe that our proposed MR criteria will be beneficial for diagnosing MMD. (orig.)

Diagnosis of moyamoya disease using 3-T MRI and MRA: value of cisternal moyamoya vessels

International Nuclear Information System (INIS)

Sawada, Takeshi; Yamamoto, Akira; Okada, Tomohisa; Kanagaki, Mitsunori; Kasahara, Seiko; Togashi, Kaori; Miki, Yukio; Kikuta, Ken-ichiro; Miyamoto, Susumu; Takahashi, Jun C.; Fukuyama, Hidenao

2012-01-01

The purpose of this study was to propose new magnetic resonance (MR) criteria of diagnosing moyamoya disease (MMD) from cisternal moyamoya vessels (MMVs) on 3-T magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) and compare the diagnostic accuracy of the existing MR criteria and the proposed MR criteria. Participants comprised 20 consecutive patients with MMD (4 males, 16 females) diagnosed clinically using conventional angiography and 20 controls (13 male and 7 female arteriosclerosis patients). In these participants, 3-T MRI/MRA was evaluated by the existing MR criteria, which use MMVs in the basal ganglia, and the proposed MR criteria, which use cisternal MMVs, and then these two criteria were statistically compared by McNemar's test. Diagnostic accuracy was 62.5% with the existing MR criteria and 97.5% with the proposed MR criteria. The proposed MR criteria was more sensitive (1.00) than the existing MR criteria (0.45), but less specific (0.95) than the existing MR criteria (1.00). The proposed MR criteria using cisternal MMVs showed significantly higher diagnostic accuracy than the existing MR criteria. We believe that our proposed MR criteria will be beneficial for diagnosing MMD. (orig.)

Surgical anatomy and preservation of the middle meningeal artery during bypass surgery for moyamoya disease.

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Hori, Satoshi; Kashiwazaki, Daina; Akioka, Naoki; Hayashi, Tomohide; Hori, Emiko; Umemura, Kimiko; Horie, Yukio; Kuroda, Satoshi

2015-01-01

The middle meningeal artery (MMA) is known to function as one of the important collateral routes in moyamoya disease. However, the anterior branch frequently courses within the lesser wing of the sphenoid bone and can easily be damaged during craniotomy for bypass surgery. This prospective study aimed to study the surgical anatomy of the MMA and to establish the technique to preserve it during bypass surgery for moyamoya disease. Twenty-two patients with moyamoya disease underwent STA-MCA anastomosis combined with indirect bypass on 27 sides. The anatomical relationship between the anterior branch of the MMA and lesser wing was classified into three types: the bridge, monorail, and tunnel types. During surgery, the lesser wing was carefully resected with a rongeur or high-speed diamond drill to preserve the anterior branch of the MMA. The anterior branch of the MMA was classified into the bridge type in 5 sides (18.5 %), monorail type in 10 sides (37.0 %), and tunnel type in 12 sides (44.5 %). Patient age was closely related to the anatomical findings (χ (2) test, p = 0.0168). Careful resection of the lesser wing with a rongeur could preserve bridge- and monorail-type MMAs (100 and 71.4 %, respectively). However, drilling out of the lesser wing under a surgical microscope was essential to preserve the tunnel-type MMA. Intraoperative indocyanine green videoangiography was useful to confirm patency during surgery. It is essential to understand the surgical anatomy of the MMA around the pterion in order to preserve its anterior branch during bypass surgery for moyamoya disease.

Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.

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Ishiwata, Tsukasa; Tanabe, Nobuhiro; Shigeta, Ayako; Yokota, Hajime; Tsushima, Kenji; Terada, Jiro; Sakao, Seiichiro; Morisaki, Hiroko; Morisaki, Takayuki; Tatsumi, Koichiro

2016-07-01

Sporadic and familial elastin mutations can occur in large vessel stenosis such as supravalvular aortic stenosis and narrowing of the descending aorta. However, there are very few reports regarding the arteriopathy of cerebral, pulmonary or abdominal arteries in elastin mutations. We herein report the case of a Japanese female patient presenting with multiple arteriopathy including moyamoya disease, a tortuosity of abdominal arteries and pulmonary hypertension due to peripheral pulmonary artery stenosis. This case suggests the possible progression of cerebral arteriopathy including moyamoya disease in patients with elastin mutations. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Down syndrome and moyamoya: clinical presentation and surgical management.

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See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

2015-07-01

OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.

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Hyakuna, Nobuyuki; Muramatsu, Hideki; Higa, Takeshi; Chinen, Yasutsugu; Wang, Xinan; Kojima, Seiji

2015-03-01

Germline mutations in CBL have been identified in patients with Noonan syndrome-like phenotypes, while juvenile myelomonocytic leukemia (JMML) harbors duplication of a germline CBL, resulting in acquired isodisomy. The association between moyamoya disease and Noonan syndrome carrying a PTPN11 mutation has recently been reported. We present a patient with JMML who developed moyamoya disease and neovascular glaucoma. Our patient exhibited a Noonan syndrome-like phenotype. Genetic analysis revealed acquired isodisomy and a germline heterozygous mutation in CBL. This is a rare case of CBL mutation associated with moyamoya disease. Prolonged RAS pathway signaling may cause disruption of cerebrovascular development. © 2014 Wiley Periodicals, Inc.

Revascularization surgery for pediatric moyamoya disease. Significance of peri-operative management to avoid surgical complication

International Nuclear Information System (INIS)

Fujimura, Miki; Tominaga, Teiji

2011-01-01

Moyamoya disease is a chronic occlusive cerebrovascular disease with unknown etiology, which is one of the most common causes of child-onset stroke in Japan. Surgical revascularizations, both direct and indirect procedures, prevent cerebral ischemic attack by improving cerebral blood flow, while neurological deterioration during the acute stage after revascularization is not rare. The objective of this study was to clarify the concept of revascularization surgery for pediatric moyamoya disease while considering the risk of surgical complications in the acute stage. The present study includes 19 consecutive patients with moyamoya disease aged from 2 to 14 years old (mean 8.5), who underwent superficial temporal artery (STA)-middle cerebral artery (MCA) anastomosis with indirect pial synangiosis for 32 affected hemispheres. Single-photon emission computed tomography (SPECT) was performed 1 and 7 days after surgery in all cases to evaluate hemodynamic alteration after surgery. Long-term outcome was evaluated by the neurological status 3 months after surgery, and the underlying pathology of surgical complications in the acute stage was diagnosed based on SPECT and magnetic resonance findings. In 28 of 32 hemispheres (87.5%), patients showed a complete disappearance of ischemic attack, 4 of 32 hemispheres (12.5%) showed a reduction of ischemic attack, while none showed deterioration of their symptoms (0%). Transient focal neurologic deterioration due to cerebral hyperperfusion was evident in 2 patients (6.3%), and was resolved by blood pressure lowering. One patient developed pseudo-laminar necrosis probably due to a thrombosis one week after surgery (3.1%), which did not affect his long-term outcome. STA-MCA anastomosis with pial synangiosis is a safe and effective treatment for pediatric moyamoya disease. Routine cerebral blood flow measurement in the acute stage is essential to avoid surgical complications including both cerebral ischemia and hyperperfusion. (author)

Changes to the geometry and fluid mechanics of the carotid siphon in the pediatric Moyamoya disease.

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Jamil, Muhammad; Tan, Germaine Xin Yi; Huq, Mehnaz; Kang, Heidi; Lee, Zhi Rui; Tang, Phua Hwee; Hu, Xi Hong; Yap, Choon Hwai

2016-12-01

The Moyamoya disease is a cerebrovascular disease that causes occlusion of the distal end of the internal carotid artery, leading to the formation of multiple tiny collateral arteries. To date, the pathogenesis of Moyamoya is unknown. Improved understanding of the changes to vascular geometry and fluid mechanics of the carotid siphon during disease may improve understanding of the pathogenesis, prognosis techniques and disease management. A retrospective analysis of Magnetic Resonance Angiography (MRA) images was performed for Moyamoya pediatric patients (MMD) (n = 23) and control (Ctrl) pediatric patients (n = 20). The Ctrl group was composed of patients who complained of headache and had normal MRA. We performed segmentation of MRA images to quantify geometric parameters of the artery. Computational fluid dynamics (CFD) was performed to quantify the hemodynamic parameters. MMD internal carotid and carotid siphons were smaller in cross-sectional areas, and shorter in curved vascular length. Vascular curvature remained constant over age and vascular size and did not change between Ctrl and MMD, but MMD carotid siphon had lower tortuosity in the posterior bend, and higher torsion in the anterior bend. Wall shear stress and secondary flows were significantly lower in MMD, but the ratio of secondary flow kinetic energy to primary flow kinetic energy were similar between MMD and Ctrl. There were alterations to both the geometry and the flow mechanics of the carotid siphons of Moyamoya patients but it is unclear whether hemodynamics is the cause or the effect of morphological changes observed.

Bleeding points in cerebral hemorrhage caused by Moyamoya disease in adults

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Sasaki, Tatsuya; Sakurai, Yoshiharu; Shimizu, Yukihiko; Ogawa, Akira; Komatsu, Shinro.

1983-01-01

Even before the introduction of CT we reported that the intracranial hemorrhage in Moyamoya disease was not subarachnoid hemorrhage but intraventricular hemorrhage and that the bleeding point was the paraventricular subependymal region of lateral ventricles; these findings were based on our experience with three Moyamoya cases in which ventricular hemorrhage occurred and pseudoaneurysms were revealed in the territory of the posterior choroidal artery. Twelve cases with intracranial hemorrhage caused by Moyamoya disease have now been studied by CT in order to determine (1) whether the hemorrhage is subarachnoid or intraventricular, and (2) where the bleeding point is. In the results for the eight cases for which the CT scan was performed within one day after the onset, intraventricular hemorrhage was shown in all cases. The bleeding point was examined in twelve cases; in four cases it was recognized by initial CT only, but if five cases in which ventricular hemorrhage only appeared in the initial CT,follow-up plain and contrast-enhanced CT were necessary. In a total of nine cases, then, bleeding points were recognized. In one case putaminal hemorrhage penetrated into the lateral ventricle, while in eight cases the intracerebral hematoma was located in the paraventricular region of the lateral ventricle, such as at the head of the caudate nucleus or the thalamus. In some cases, small subependymal hematoma projected into the lateral ventricle. In cases with symptoms of intracranial hemorrhage at the onset, the bleeding points were at the paraventricular parenchyma of the lateral ventricle in almost all cases. (author)

Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).

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Kılıç, Esra; Utine, Eda; Unal, Sule; Haliloğlu, Göknur; Oğuz, Kader Karli; Cetin, Mualla; Boduroğlu, Koray; Alanay, Yasemin

2012-10-01

We report an infant diagnosed with Majewski osteodysplastic primordial dwarfism type II at age 8 months, who experienced cerebrovascular morbidities related to this entity. Molecular analysis identified c.2609+1 G>A, intron 14, homozygous splice site mutation in the pericentrin gene. At age 18 months, she developed recurrent strokes and hemiparesis. Brain magnetic resonance imaging and magnetic resonance angiography showed abnormal gyral pattern, cortical acute infarcts, bilateral stenosis of the internal carotid arteries and reduced flow on the cerebral arteries, consistent with moyamoya disease. In Majewski osteodysplastic primordial dwarfism type II, life expectancy is reduced because of high risk of stroke secondary to cerebral vascular anomalies (aneurysms, moyamoya disease). Periodic screening for vascular events is recommended in individuals with Majewski osteodysplastic primordial dwarfism type II every 12-18 months following diagnosis. Our patient was medically managed with low molecular weight heparin followed with aspirin prophylaxis, in addition to carbamazepine and physical rehabilitation. We report an infant with moyamoya disease and recurrent stroke presenting 10 months after diagnosis (at age 18 months), and discuss the outcome of nonsurgical medical management. The presented case is the second youngest case developing stroke and moyamoya disease.

Collateral vessels in moyamoya disease : comparison of MR and MRA with conventional angiography

International Nuclear Information System (INIS)

Shim, Joo Eun; Yoon, Dae Young; Yi, Jeong Geun; Kim, Ho Chul; Choi, Chul Sun; Bae, Sang Hoon

1998-01-01

To determine the value of magnetic resonance imaging (MR) and magnetic resonance angiography (MRA) in assessing collateral vessels of moyamoya disease. Twenty-four patients with moyamoya disease who underwent MR, 3D TOF MRA, and conventional angiography participated in this study. Two radiologists working independently and with no knowledge of the angiographic findings, interpreted the MR and MRA images. To determine the presence of parenchymal and leptomeningeal collaterals (48 hemispheres) and transdural collaterals (38 hemispheres in 19 patients were depicted by angiography of the external carotid), the findings were compared with those of angiography. Parenchymal, leptomeningeal, and transdural collaterals were depicted by conventional angiography in 34 (71%), 32 (67%), and 11 (29%) hemispheres respectively. The sensitivity and specificity of MR/MRA for collateral vessels were 79.1/88.1 % for parenchymal collaterals, 72.1/88.1 % for leptomeningeal collaterals, and 0.1/18.1 % for transdural collaterals, respectively. Respective sensitivity and specificity of MR/MRA were 88.94/94.1% for leptomeningeal collaterals, and 18.93/55.1 % for transdural collaterals, when the prominent posterior cerebral and external carotid artery were regarded as secondary signs of leptomeningeal and transdural collateral vessels. In moyamoya disease, MR and MRA are useful imaging modalities for the assessment of collateral vessels. The prominent posterior cerebral artery and external carotid artery can be useful secondary signs of leptomeningeal and transdural collateral vessels. (author). 18 refs., 2 figs

How to minimize ischemic complication related to swollen temporalis muscle following indirect revascularization surgery in moyamoya disease: a technical report.

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Joo, Sung Pil; Kim, Tae Sun; Moon, Hyung Sik

2014-05-01

There are several reports in the literature of postoperative ischemic events due to swelling of the temporalis muscle after indirect revascularization surgery. Here, we report our surgical technique for preventing ischemic events during the acute postoperative recovery period in moyamoya patients. We used various types of titanium mesh to cover the bony defect area in 8 patients (10 operations) with moyamoya disease. The mesh was cut and manipulated according to the shape of the bony defect. Surgical results were favorable, with no newly developed ischemic event or infarction in the acute recovery period. The mesh formed an outer table of skull, so there was no compressive effect on the temporalis muscle and no cosmetic defects. The titanium mesh appears to be effective and useful for prevention of ischemic insult in the treatment of moyamoya disease. The choice of this procedure depends on both the operative findings of temporalis muscle thickness and the status of ischemic vulnerability of moyamoya brain. Georg Thieme Verlag KG Stuttgart · New York.

Clinical Significance of the Champagne Bottle Neck Sign in the Extracranial Carotid Arteries of Patients with Moyamoya Disease.

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Yasuda, C; Arakawa, S; Shimogawa, T; Kanazawa, Y; Sayama, T; Haga, S; Morioka, T

2016-05-26

The champagne bottle neck sign represents a rapid reduction in the extracranial ICA diameters and is a characteristic feature of Moyamoya disease. However, the clinical significance of the champagne bottle neck sign is unclear. We investigated the relationship between the champagne bottle neck sign and the clinical and hemodynamic stages of Moyamoya disease. We analyzed 14 patients with Moyamoya disease before revascularization (5 men, 9 women; age, 43.2 ± 19.3 years). The ratio of the extracranial ICA and common carotid artery diameters was determined using carotid ultrasonography or cerebral angiography; a ratio of champagne bottle neck sign-positive. The clinical disease stage was determined using the Suzuki angiographic grading system. CBF and cerebral vasoreactivity also were measured. The ICA/common carotid artery ratio (expressed as median [interquartile range]) decreased as the clinical stage advanced (stages I-II, 0.71 [0.60-0.77]; stages III-IV, 0.49 [0.45-0.57]; stages V-VI, 0.38 [0.34-0.47]; P champagne bottle neck sign-positive arteries were classified as Suzuki stage ≥III, 73% were symptomatic, and 89% exhibited reduced cerebral vasoreactivity. In contrast, all champagne bottle neck sign-negative arteries were Suzuki stage ≤III, 67% were asymptomatic, and all showed preserved cerebral vasoreactivity. The champagne bottle neck sign was related to advanced clinical stage, clinical symptoms, and impaired cerebral vasoreactivity. Thus, detection of the champagne bottle neck sign might be useful in determining the clinical and hemodynamic stages of Moyamoya disease. © 2016 American Society of Neuroradiology.

Longitudinal anterior-to-posterior shift of collateral channels in patients with moyamoya disease: an implication for its hemorrhagic onset.

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Yamamoto, Shusuke; Hori, Satoshi; Kashiwazaki, Daina; Akioka, Naoki; Kuwayama, Naoya; Kuroda, Satoshi

2018-03-23

OBJECTIVE This study aimed to assess longitudinal changes in the collateral channels originating from the lenticulostriate artery (LSA), posterior communicating artery (PCoA), and anterior and posterior choroidal arteries (AChA and PChA, respectively) during disease progression and/or aging. The impact of collateral channels on onset type was also examined. METHODS This study included 71 involved hemispheres in 41 patients with moyamoya disease. The disease was categorized into 6 stages according to Suzuki's angiographic staging system. The degree of development of each moyamoya vessel was categorized into 3 grades. RESULTS The LSA started to dilate in stage 2, showed the most prominent development in stage 3, and decreased in more advanced stages (p PCoA started to dilate in stage 3 and showed the most prominent development in stage 4 (p = 0.03). The PChA started to dilate in stage 3 and showed the most prominent development in stages 4 to 5 (p PCoA (p = 0.02, R = 0.28) and PChA (p PCoA, AChA, and PChA more distinctly developed in hemispheres with intracerebral or intraventricular hemorrhage than in hemispheres with ischemic stroke or transient ischemic attack (p < 0.001, p = 0.03, and p = 0.03, respectively). CONCLUSIONS This study suggests that the collateral channels through moyamoya vessels longitudinally shift from the anterior to posterior component during disease progression and aging, which may be closely related to the onset of hemorrhagic stroke in adult moyamoya disease.

Elevation of Proenkephalin 143-183 in Cerebrospinal Fluid in Moyamoya Disease.

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Yokoyama, Kinya; Maruwaka, Mikio; Yoshikawa, Kazuhiro; Araki, Yoshio; Okamoto, Sho; Sumitomo, Masaki; Kawamura, Akino; Sakamoto, Yusuke; Shimizu, Kenzo; Izumi, Takashi; Wakabayashi, Toshihiko

2018-01-01

In moyamoya disease (MMD), the causes of differences in clinical features between children and adults and of the dramatic temporal changes in moyamoya vessels are poorly understood. We previously discovered elevated levels of m/z 4588 and m/z 4473 peptides in cerebrospinal fluid (CSF) in patients with MMD. This study examined the amino acid sequences of these peptides and quantified in specimens. The m/z 4588 and m/z 4473 peptides in CSF from patients with MMD were purified and concentrated by high-performance liquid chromatography and ultrafiltration. Liquid chromatography coupled with tandem mass spectrometry analysis was performed to identify the amino acid sequences of these peptides. We quantified these peptides in samples using sandwich enzyme-linked immunosorbent assay, and concentrations in CSF were compared between MMD (n = 40, 19 male; median age, 37 years) and non-MMD intracranial disease (n = 40, 19 male; median age, 39 years) as controls. These peptides were identified as proenkephalin 143-183 (PENK 143-183). The concentration of PENK 143-183 was significantly greater in patients with MMD (median, 8,270 pmol/L) than control patients (median, 3,760 pmol/L; P < 0.001) and decreased in an age-dependent manner in MMD (r = -0.57; P < 0.001). The area under the receiver operating characteristic curve in children (age <18 years) was 0.885 (95% confidence interval 0.741-1). The correlation between proenkephalin concentration and temporal changes in moyamoya vessels was suggested. Proenkephalin 143-183 in CSF may offer a helpful diagnostic biomarker in pediatric MMD. The effect of enkephalin peptides through opioid growth factor receptor or delta opioid receptor might be associated with the pathophysiology of MMD. Copyright © 2017 Elsevier Inc. All rights reserved.

99mTc-ECD brain SPECT in patients with Moyamoya disease: a reflection of cerebral perfusion status at tissue level in the disease process

International Nuclear Information System (INIS)

Kashyap, Raghava; Mittal, Bhagwant Rai; Sunil, Hejjaji Venkataramarao; Bhattacharya, Anish; Singh, Baljinder; Mukherjee, Kanchan Kumar; Gupta, Sunil Kumar

2011-01-01

Moyamoya disease is a rare, progressive cerebrovascular disorder caused by intracranial stenosis of the circle of Willis, resulting in successive ischemic events. Computed tomography (CT) and magnetic resonance imaging (MRI) play a major role in diagnosis. The aim of the study was to describe the spectrum of findings on brain SPECT in patients with Moyamoya disease and to compare the findings with other investigations. 99m Tc-ECD SPECT scans of seventeen patients (7 children and 10 adults) were analysed to study the brain perfusion. Features of Moyamoya disease were detected on DSA in 11 patients, CTA in one, MR angiography in one patient. Brain perfusion SPECT analysis showed unilateral perfusion defects in 11 patients, normal perfusion in 2 and bilateral defects in 4 patients. No perfusion defects despite bilateral vascular changes were noted in one patient. Cerebral infarcts were detected on MRI unilaterally in three subjects while multiple infarcts were identified in one. 99m Tc-ECD Brain SPECT showed perfusion defects that were more extensive compared to those detected on MRI. Post acetazolamide studies for assessment of cerebrovascular reserve were done in three patients. Two of them showed good cerebrovascular reserve (>1). Follow-up studies post-surgical procedures (Myo-dura synangiosis) done in two patients showed partial resolution of perfusion defects in the involved areas. Brain perfusion scintigraphy is an important adjunct in evaluation of patients with Moyamoya disease yielding information about the direct end results of the pathology in the vessels and also prognostic information. (author)

Prehospital antiplatelet use and functional status on admission of patients with non-haemorrhagic moyamoya disease: a nationwide retrospective cohort study (J-ASPECT study)

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Onozuka, Daisuke; Hagihara, Akihito; Nishimura, Kunihiro; Kada, Akiko; Nakagawara, Jyoji; Ogasawara, Kuniaki; Ono, Junichi; Shiokawa, Yoshiaki; Aruga, Toru; Miyachi, Shigeru; Nagata, Izumi; Toyoda, Kazunori; Matsuda, Shinya; Suzuki, Akifumi; Kataoka, Hiroharu; Nakamura, Fumiaki; Kamitani, Satoru; Nishimura, Ataru; Kurogi, Ryota; Sayama, Tetsuro; Iihara, Koji

2016-01-01

Objectives To elucidate the association between antiplatelet use in patients with non-haemorrhagic moyamoya disease before hospital admission and good functional status on admission in Japan. Design Retrospective, multicentre, non-randomised, observational study. Setting Nationwide registry data in Japan. Participants A total of 1925 patients with non-haemorrhagic moyamoya disease admitted between 1 April 2012 and 31 March 2014 in Japan. Main outcome measure We performed propensity score-matched analysis to examine the association between prehospital antiplatelet use and no significant disability on hospital admission, as defined by a modified Rankin Scale score of 0 or 1. Results Propensity-matched patients who received prehospital antiplatelet drugs were associated with a good outcome on hospital admission (OR adjusted for all covariates, 3.82; 95% CI 1.22 to 11.99) compared with those who did not receive antiplatelet drugs prior to hospital admission. Conclusions Prehospital antiplatelet use was significantly associated with good functional status on hospital admission among patients with non-haemorrhagic moyamoya disease in Japan. Our results suggest that prehospital antiplatelet use should be considered when evaluating outcomes of patients with non-haemorrhagic moyamoya disease. PMID:27008684

Arterial spin-labeling MR imaging in moyamoya disease compared with clinical assessments and other MR imaging finings

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Noguchi, Tomoyuki, E-mail: tnogucci@radiol.med.kyushu-u.ac.jp [Department of Radiology, Faculty of Medicine, Saga University, 5-1-1, Nabeshima, Saga 849-8501 (Japan); Kawashima, Masatou [Department of Neurosurgery, Faculty of Medicine, Saga University, 5-1-1, Nabeshima, Saga 849-8501 (Japan); Nishihara, Masashi; Hirai, Tetsuyoshi [Department of Radiology, Faculty of Medicine, Saga University, 5-1-1, Nabeshima, Saga 849-8501 (Japan); Matsushima, Toshio [Department of Neurosurgery, Faculty of Medicine, Saga University, 5-1-1, Nabeshima, Saga 849-8501 (Japan); Irie, Hiroyuki [Department of Radiology, Faculty of Medicine, Saga University, 5-1-1, Nabeshima, Saga 849-8501 (Japan)

2013-12-01

Purpose: Our purpose was to identify the causal factors for the perfusion distribution obtained with ASL-MRI by comparing ASL-MRI with clinical information and other MRI findings in moyamoya disease. Methods: Seventy-one patients with moyamoya disease underwent ASL-MRI and other MRI, including fluid-attenuated inversion recovery imaging (FLAIR) and three-dimensional time-of-flight magnetic resonance angiography (MRA) on 3.0-Tesla MRI system. Cerebral blood flow (CBF) values (ASL values) for the cerebral hemispheres (142 sides) were measured on CBF maps generated by ASL-MRI. Relationships between the ASL values and the following 9 factors were assessed: sex, family history, revascularization surgery, age at MR exam, age at onset, the steno-occlusive severity on MRA (MRA score), degree of basal collaterals, degree of leptomeningeal high signal intensity seen on FLAIR, and size of ischemic or hemorrhagic cerebrovascular accident lesion (CVA score). Results: Patients with a family history had significantly higher ASL values than those without such a history. There were significant negative correlations between ASL values and age at MR exam, MRA score, and CVA score. Conclusions: ASL-MRI may have cause-and-effect or mutual associations with family history, current patient age, size of CVA lesion, and intracranial arterial steno-occlusive severity in Moyamoya disease.

Arterial spin-labeling MR imaging in moyamoya disease compared with clinical assessments and other MR imaging finings

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Noguchi, Tomoyuki; Kawashima, Masatou; Nishihara, Masashi; Hirai, Tetsuyoshi; Matsushima, Toshio; Irie, Hiroyuki

2013-01-01

Purpose: Our purpose was to identify the causal factors for the perfusion distribution obtained with ASL-MRI by comparing ASL-MRI with clinical information and other MRI findings in moyamoya disease. Methods: Seventy-one patients with moyamoya disease underwent ASL-MRI and other MRI, including fluid-attenuated inversion recovery imaging (FLAIR) and three-dimensional time-of-flight magnetic resonance angiography (MRA) on 3.0-Tesla MRI system. Cerebral blood flow (CBF) values (ASL values) for the cerebral hemispheres (142 sides) were measured on CBF maps generated by ASL-MRI. Relationships between the ASL values and the following 9 factors were assessed: sex, family history, revascularization surgery, age at MR exam, age at onset, the steno-occlusive severity on MRA (MRA score), degree of basal collaterals, degree of leptomeningeal high signal intensity seen on FLAIR, and size of ischemic or hemorrhagic cerebrovascular accident lesion (CVA score). Results: Patients with a family history had significantly higher ASL values than those without such a history. There were significant negative correlations between ASL values and age at MR exam, MRA score, and CVA score. Conclusions: ASL-MRI may have cause-and-effect or mutual associations with family history, current patient age, size of CVA lesion, and intracranial arterial steno-occlusive severity in Moyamoya disease

Medical image of the week: moyamoya disease

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Pak S

2017-11-01

Full Text Available No abstract available. Article truncated at 150 words. A 52-year-old, right-handed, Caucasian woman with a history of hypertension and morbid obesity presented with acute onset of word-finding difficulty and slurred speech. Her medical and family history was negative for cerebral vascular event, coronary artery disease or smoking. Computed tomography of the patient's brain showed narrow caliber middle cerebral artery vasculature bilaterally. This abnormal finding prompted further investigation with cerebral angiogram. The angiogram showed bilateral high-grade stenosis of the anterior and middle cerebral arteries, worse on the left (Figure 1. Magnetic resonance imaging revealed multiple left sided punctate infarcts in the frontal and parietal lobes (Figure 2. Diagnosis of ischemic stroke secondary to moyamoya disease was established. This patient was not a candidate for fibrinolytic therapy since it had been more than 4 hours from initial presentation. She was treated with aspirin, clopidogrel, and atorvastatin for secondary prevention of ischemic stroke. Two months after her discharge date, the patient …

Cerebral hemodynamics in patients with moyamoya disease, (2)

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Takeuchi, Shigekazu

1983-01-01

Regional cerebral blood flow (rCBF) was measured by the 133 Xe inhalation method in 19 patients with moyamoya disease aged 5 to 46 and compared with that in 17 healthy volunteers aged 7 to 67. In healthy volunteers, mean hemispheric flow values (mCBF) in the steady state decreased and cerebrovascular resistance (CVR) increased with advancing age. Most young patients showed low values of mCBF in both hemispheres in comparison with healthy volunteers. About half of the young patients showed higher values of CVR than young healthy volunteers. The distribution of rCBF showed a hyperfrontal pattern in healthy volunteers. However, in the patients, regional distribution of hemispheric flow showed a different pattern with low flow in the upper frontal region and mean flow in the posterotemporal and occipital regions. rCBF measurements were carried out during hyperventilation in five healthy volunteers and in one patient, and during 5% CO 2 inhalation in one healthy volunteer and two patients. CO 2 reactivity was uniformly present in the hemispheres of healthy volunteers. rCBF in both hemispheres was reduced by hyperventilation, more markedly in the patient than in healthy volunteers. On the other hand, in two patients, the flow was increased in the temporo-occipital regions and was decreased in the frontal region by 5% CO 2 inhalation, and mCBF was slightly increased. Postoperative rCBF measurements in 21 sides of 12 young patients indicated a gradual increase of mCBF in 14 sides of nine patients from 3 months after surgery. These results indicate that rCBF measurements by the 133 Xe inhalation method are useful in determining cerebral hemodynamics in patients with moyamoya disease, especially in children. (J.P.N.)

Prehospital antiplatelet use and functional status on admission of patients with non-haemorrhagic moyamoya disease: a nationwide retrospective cohort study (J-ASPECT study)

OpenAIRE

Onozuka, Daisuke; Hagihara, Akihito; Nishimura, Kunihiro; Kada, Akiko; Nakagawara, Jyoji; Ogasawara, Kuniaki; Ono, Junichi; Shiokawa, Yoshiaki; Aruga, Toru; Miyachi, Shigeru; Nagata, Izumi; Toyoda, Kazunori; Matsuda, Shinya; Suzuki, Akifumi; Kataoka, Hiroharu

2016-01-01

Objectives To elucidate the association between antiplatelet use in patients with non-haemorrhagic moyamoya disease before hospital admission and good functional status on admission in Japan. Design Retrospective, multicentre, non-randomised, observational study. Setting Nationwide registry data in Japan. Participants A total of 1925 patients with non-haemorrhagic moyamoya disease admitted between 1 April 2012 and 31 March 2014 in Japan. Main outcome measure We performed propensity score-matc...

Prehospital antiplatelet use and functional status on admission of patients with non-haemorrhagic moyamoya disease: a nationwide retrospective cohort study (J-ASPECT study).

Science.gov (United States)

Onozuka, Daisuke; Hagihara, Akihito; Nishimura, Kunihiro; Kada, Akiko; Nakagawara, Jyoji; Ogasawara, Kuniaki; Ono, Junichi; Shiokawa, Yoshiaki; Aruga, Toru; Miyachi, Shigeru; Nagata, Izumi; Toyoda, Kazunori; Matsuda, Shinya; Suzuki, Akifumi; Kataoka, Hiroharu; Nakamura, Fumiaki; Kamitani, Satoru; Nishimura, Ataru; Kurogi, Ryota; Sayama, Tetsuro; Iihara, Koji

2016-03-15

To elucidate the association between antiplatelet use in patients with non-haemorrhagic moyamoya disease before hospital admission and good functional status on admission in Japan. Retrospective, multicentre, non-randomised, observational study. Nationwide registry data in Japan. A total of 1925 patients with non-haemorrhagic moyamoya disease admitted between 1 April 2012 and 31 March 2014 in Japan. We performed propensity score-matched analysis to examine the association between prehospital antiplatelet use and no significant disability on hospital admission, as defined by a modified Rankin Scale score of 0 or 1. Propensity-matched patients who received prehospital antiplatelet drugs were associated with a good outcome on hospital admission (OR adjusted for all covariates, 3.82; 95% CI 1.22 to 11.99) compared with those who did not receive antiplatelet drugs prior to hospital admission. Prehospital antiplatelet use was significantly associated with good functional status on hospital admission among patients with non-haemorrhagic moyamoya disease in Japan. Our results suggest that prehospital antiplatelet use should be considered when evaluating outcomes of patients with non-haemorrhagic moyamoya disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Ivy signs on FLAIR images before and after STA-MCA anastomosis in patients with Moyamoya disease

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Ideguchi, Reiko; Enokizono, Mikako; Uetani, Masataka (Dept. of Radiological Sciences, Nagasaki Univ. Graduate School of Biomedical Sciences, Nagasaki (Japan)), e-mail: qqtt37gd9@forest.ocn.ne.jp; Morikawa, Minoru (Dept. of Radiology, Nagasaki Univ. School of Medicine, Nagasaki (Japan)); Ogawa, Yoji (Dept. of Radiology, Hanwa Daini Senboku Hospital, Osaka (Japan)); Nagata, Izumi (Dept. of Neurosurgery, Nagasaki Univ. School of Medicine, Nagasaki (Japan))

2011-04-15

Background: Leptomeningeal high signal intensity (ivy sign) on fluid-attenuated inversion-recovery (FLAIR) MR imaging is one of the features of Moyamoya disease. However, the correlation between ivy sign and cerebral perfusion status has not been fully evaluated. Purpose: To characterize ivy sign on FLAIR images in Moyamoya disease and compare this finding with hemodynamic alterations on perfusion single-photon emission CT (SPECT) obtained before and after bypass surgery. Material and Methods: Sixteen patients with angiographically confirmed Moyamoya disease who underwent superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis were included in the study. The presence of ivy sign on FLAIR images was classified as 'negative', 'minimal' and 'positive'. We evaluated the relationship between ivy sign and findings of SPECT, including cerebral vascular reserve (CVR) before and after surgery. Results: Minimal or positive ivy sign was seen in 13 (81%) of 16 patients, and 21 (66%) of 32 hemispheres. CVR in the areas with positive or minimal ivy sign was lower than that in the areas with negative ivy sign. After STA-MCA anastomosis, ivy sign disappeared or decreased in all 21 hemispheres demonstrating ivy sign. SPECT demonstrated apparent hemodynamic improvement in areas demonstrating disappearance or decrease of ivy sign. Conclusion: Ivy sign on FLAIR image is seen in areas with decreased cerebral perfusion. The sign is useful for non-invasive assessment of cerebral hemodynamic status before and after surgery

Moyamoya vasculopathy - Patient demographics and characteristics in the Finnish population.

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Saarela, Marika; Mustanoja, Satu; Pekkola, Johanna; Tyni, Tiina; Hernesniemi, Juha; Kivipelto, Leena; Tatlisumak, Turgut

2017-01-01

Background and purpose Moyamoya vasculopathy, a rare steno-occlusive progressive cerebrovascular disorder, has not been thoroughly studied in Caucasian populations. We established a registry of Finnish patients treated at the Helsinki University Hospital, to collect and report demographic and clinical data. Methods We collected data both retrospectively and prospectively from all the patients with a moyamoya vasculopathy referred to our hospital between January 1987 and December 2014. All patients underwent a neurological outpatient clinic visit. Results We diagnosed 61 patients (50 females, 10 children) with moyamoya vasculopathy. The mean age at the disease-onset was 31.5 ± 17.9 years. The two most common presenting symptoms were ischemic stroke (n = 31) and hemorrhage (n = 8). Forty-four percent underwent revascularization surgery, and 70% were prescribed antithrombotic treatment. Conclusions The results support in part the Western phenotype of the disease considering the later presentation and larger female predominance compared to the Asian moyamoya vasculopathy reports. However, the proportion of ischemic strokes and hemorrhagic strokes is closer to Japanese population than German population. The absence of familial cases points to a different genetic profile in the Finnish patients.

Moyamoya disease: impact on the performance of oral and written language.

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Lamônica, Dionísia Aparecida Cusin; Ribeiro, Camila da Costa; Ferraz, Plínio Marcos Duarte Pinto; Tabaquim, Maria de Lourdes Merighi

Moyamoya disease is an unusual form of occlusive, cerebrovascular disorder that affects the arteries of the central nervous system, causing acquired language alterations and learning difficulties. The study aim was to describe the oral/written language and cognitive skills in a seven-year-and-seven-month-old girl diagnosed with Moyamoya disease. The assessment consisted of interviews with her parents and application of the following instruments: Observation of Communicative Behavior, Peabody Picture Vocabulary Test, Academic Performance Test, Profile of Phonological Awareness, Raven's Progressive Matrices Test, Special Scale, Wechsler Intelligence Scale for Children, Bender Visual Motor Gestalt Test, and Wisconsin Card Sorting Test. Two episodes of stroke in the left and right temporal-parietal and left frontal areas occurred until the age of six years and five months. Revascularization surgery and medication treatment were conducted. The audiologic and ophthalmologic assessments indicated normality. At the time of the study, the girl was attending the second grade of elementary school. She presented changes in oral and written language (syllabic-alphabetic), non-naming of all graphemes, low arithmetic and writing means, reading skill below first grade level and psycholinguistic delay, and pre-school level phonological processing skills. The psychological evaluation indicated satisfactory intellectual level; however, it also showed cognitive performance impairment in verbal and execution tasks and limitations on graphic-perceptual-motor skills and sequential logic organization. The stroke episodes influenced the performance of learning processes, affecting the analysis, integration, and interpretation of relevant visual and auditory information.

Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations.

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Waldron, James S; Hetts, Steven W; Armstrong-Wells, Jennifer; Dowd, Christopher F; Fullerton, Heather J; Gupta, Nalin; Lawton, Michael T

2009-11-01

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by extremely small stature and microcephaly, and is associated in 25% of patients with intracranial aneurysms and moyamoya disease. Although aneurysmal subarachnoid hemorrhage and stroke are leading causes of morbidity and death in these patients, MOPD II is rarely examined in the neurosurgical literature. The authors report their experience with 3 patients who presented with MOPD II, which includes a patient with 8 aneurysms (the most aneurysms reported in the literature), and the first report of a patient with both moyamoya disease and multiple aneurysms. The poor natural history of these lesions indicates aggressive microsurgical and/or endovascular therapy. Microsurgery, whether for aneurysm clip placement or extracranial-intracranial bypass, is challenging due to tight surgical corridors and diminutive arteries in these patients, but is technically feasible and strongly indicated when multiple aneurysms must be treated or cerebral revascularization is needed.

Moyamoya disease in a child with previous acute necrotizing encephalopathy

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Kim, Taik-Kun; Cha, Sang Hoon; Chung, Kyoo Byung; Kim, Jung Hyuck; Kim, Baek Hyun; Chung, Hwan Hoon [Department of Diagnostic Radiology, Korea University College of Medicine, Ansan Hospital, 516 Kojan-Dong, Ansan City, Kyungki-Do 425-020 (Korea); Eun, Baik-Lin [Department of Pediatrics, Korea University College of Medicine, Seoul (Korea)

2003-09-01

A previously healthy 24-day-old boy presented with a 2-day history of fever and had a convulsion on the day of admission. MRI showed abnormal signal in the thalami, caudate nuclei and central white matter. Acute necrotising encephalopathy was diagnosed, other causes having been excluded after biochemical and haematological analysis of blood, urine and CSF. He recovered, but with spastic quadriparesis. At the age of 28 months, he suffered sudden deterioration of consciousness and motor weakness of his right limbs. MRI was consistent with an acute cerebrovascular accident. Angiography showed bilateral middle cerebral artery stenosis or frank occlusion with numerous lenticulostriate collateral vessels consistent with moyamoya disease. (orig.)

Effect of Aspirin in Postoperative Management of Adult Ischemic Moyamoya Disease.

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Zhao, Yahui; Zhang, Qian; Zhang, Dong; Zhao, Yuanli

2017-09-01

Aspirin has been implicated in the postoperative management of moyamoya disease (MMD) in order to avoid bypass failure and decrease the incidence of subsequent stroke. However, its effect has not been completely determined yet. In this study, we retrospectively reviewed data of 184 adult patients (197 hemispheres) presented with ischemic-onset MMD who had undergone direct or combined revascularization in our hospital, to clarify the effect of postoperative aspirin therapy in the management of moyamoya disease. Fifty-nine hemispheres that had been administered with aspirin (100 mg/day) after bypass surgery were defined as the "aspirin group," whereas 138 that hadn't been given aspirin postoperatively were defined as the "control group". Among 197 hemispheres, the mortality rate was 0. The incidence of postoperative newly developed infarction, transient ischemic attack, and hemorrhage were not significantly different between the aspirin and control groups. The patency rate of bypass graft was not significantly different between the groups, either. Notably, more patients experienced major stroke in the control group (9/138) than the aspirin group (1/59), but no statistical difference was found (P > 0.05). In the aspirin group, more patients had improved outcome than the control group (P = 0.04). Our findings showed that aspirin might not decrease the incidence of postoperative ischemic stroke or increase patency rate of bypass graft, but it does not increase the risk of hemorrhages, either. Also, postoperative aspirin therapy might improve outcome. More studies are needed to provide evidence for postoperative antiplatelet therapy in MMD management. Copyright © 2017 Elsevier Inc. All rights reserved.

A Case of Moyamoya-like Vessels with History of Brain Radiation

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M Zare

2004-08-01

Full Text Available A 13 years old boy underwenta surgical operation of craniopharyngioma which followed by postoperative radiation therapy. Eighteen monthes later he was admitted to the neurological ward due to sudden sensory aphasia. Brain CT showed infarction of left hemisphere. Since no other predisposing factor was present, the cause of stroke in this patient can be related to Moyamoya - like disease after radiation. Keywords: Moyamoya, Stroke, Aphasia, Craniopharyngioma, Radiation Therapy

Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state

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Morito, Daisuke; Nishikawa, Kouki; Hoseki, Jun; Kitamura, Akira; Kotani, Yuri; Kiso, Kazumi; Kinjo, Masataka; Fujiyoshi, Yoshinori; Nagata, Kazuhiro

2014-03-01

Moyamoya disease is an idiopathic human cerebrovascular disorder that is characterized by progressive stenosis and abnormal collateral vessels. We recently identified mysterin/RNF213 as its first susceptibility gene, which encodes a 591-kDa protein containing enzymatically active P-loop ATPase and ubiquitin ligase domains and is involved in proper vascular development in zebrafish. Here we demonstrate that mysterin further contains two tandem AAA+ ATPase modules and forms huge ring-shaped oligomeric complex. AAA+ ATPases are known to generally mediate various biophysical and mechanical processes with the characteristic ring-shaped structure. Fluorescence correlation spectroscopy and biochemical evaluation suggested that mysterin dynamically changes its oligomeric forms through ATP/ADP binding and hydrolysis cycles. Thus, the moyamoya disease-associated gene product is a unique protein that functions as ubiquitin ligase and AAA+ ATPase, which possibly contributes to vascular development through mechanical processes in the cell.

Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state

Science.gov (United States)

Morito, Daisuke; Nishikawa, Kouki; Hoseki, Jun; Kitamura, Akira; Kotani, Yuri; Kiso, Kazumi; Kinjo, Masataka; Fujiyoshi, Yoshinori; Nagata, Kazuhiro

2014-01-01

Moyamoya disease is an idiopathic human cerebrovascular disorder that is characterized by progressive stenosis and abnormal collateral vessels. We recently identified mysterin/RNF213 as its first susceptibility gene, which encodes a 591-kDa protein containing enzymatically active P-loop ATPase and ubiquitin ligase domains and is involved in proper vascular development in zebrafish. Here we demonstrate that mysterin further contains two tandem AAA+ ATPase modules and forms huge ring-shaped oligomeric complex. AAA+ ATPases are known to generally mediate various biophysical and mechanical processes with the characteristic ring-shaped structure. Fluorescence correlation spectroscopy and biochemical evaluation suggested that mysterin dynamically changes its oligomeric forms through ATP/ADP binding and hydrolysis cycles. Thus, the moyamoya disease-associated gene product is a unique protein that functions as ubiquitin ligase and AAA+ ATPase, which possibly contributes to vascular development through mechanical processes in the cell. PMID:24658080

Prevention of the Rerupture of Collateral Artery Aneurysms on the Ventricular Wall by Early Surgical Revascularization in Moyamoya Disease: Report of Two Cases and Review of the Literature.

Science.gov (United States)

Kanamori, Fumiaki; Takasu, Syuntaro; Ota, Shinji; Seki, Yukio

2018-01-01

Collateral artery aneurysms are a source of intracranial hemorrhage in moyamoya disease. Several reports have shown that surgical revascularization leads to the obliteration of collateral artery aneurysms. However, its effect on the prevention of rebleeding has not been established, and the optimal timing of the operation remains unclear. The purpose of the present study is to evaluate the effects of surgical revascularization and to investigate the optimal operation timing in patients with moyamoya disease who have ruptured collateral artery aneurysms on the ventricular wall. Two patients with moyamoya disease who presented with intraventricular hemorrhage caused by rupture of collateral artery aneurysms on the wall of the lateral ventricle are presented here. In both cases, the aneurysms reruptured approximately 1 month after the initial hemorrhage. Both patients successfully underwent superficial temporal artery-middle cerebral artery anastomosis combined with indirect bypass in the subacute stage. The aneurysms decreased with the development of collateral circulation through the direct bypasses, and rebleeding did not occur after the surgery. Because ruptured collateral artery aneurysms on the wall of the lateral ventricle in moyamoya disease are prone to rerupture within 1 month, surgical revascularization may be recommended as soon as the patients are stable and able to withstand the operation. Copyright © 2017 Elsevier Inc. All rights reserved.

Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.

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Wanyang Liu

Full Text Available Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is unknown.Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q25.3 (P<10(-4. Fine mapping demonstrated a 1.5-Mb disease locus bounded by D17S1806 and rs2280147. We conducted exome analysis of the eight index cases in these families, with results filtered through Ng criteria. There was a variant of p.N321S in PCMTD1 and p.R4810K in RNF213 in the 1.5-Mb locus of the eight index cases. The p.N321S variant in PCMTD1 could not be confirmed by the Sanger method. Sequencing RNF213 in 42 index cases confirmed p.R4810K and revealed it to be the only unregistered variant. Genotyping 39 SNPs around RNF213 revealed a founder haplotype transmitted in 42 families. Sequencing the 260-kb region covering the founder haplotype in one index case did not show any coding variants except p.R4810K. A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls with an odds ratio of 111.8 (P = 10(-119. Sequencing of RNF213 in East Asian cases revealed additional novel variants: p.D4863N, p.E4950D, p.A5021V, p.D5160E, and p.E5176G. Among Caucasian cases, variants p.N3962D, p.D4013N, p.R4062Q and p.P4608S were identified. RNF213 encodes a 591-kDa cytosolic protein that possesses two functional domains: a Walker motif and a RING finger domain. These exhibit ATPase and ubiquitin ligase activities. Although the mutant alleles (p.R4810K or p.D4013N in the RING domain did not affect transcription levels or ubiquitination activity, knockdown of RNF213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels.We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya

"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.

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Bang, Genie M; Kirmani, Salman; Patton, Alice; Pulido, Jose S; Brodsky, Michael C

2013-02-01

Primordial dwarfism refers to severely impaired growth beginning early in fetal life. There are many genetic causes of primordial dwarfism, including disorders classified as microcephalic osteodysplastic primordial dwarfism. Microcephalic osteodysplastic primordial dwarfism type II is an autosomal-recessive disease characterized by small stature, bone and dental anomalies, and characteristic facies. Affected patients have a high risk of stroke secondary to progressive cerebral vascular anomalies, which often are classified as moyamoya disease. We present the case of a boy with features suggestive of MOPD II with unilateral moyamoya cerebrovascular changes and correlative moyamoya collaterals involving the iris of the ipsilateral eye. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Surgical excision of heterotopic ossification of hip in a rare case of Moyamoya disease with extra articular ankylosis

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Dhanasekararaja Palanisami

2012-01-01

Full Text Available We report a case of isolated ossification of iliopsoas with ankylosis of the left hip in a 27-year-old female. The patient was diagnosed to have Moyamoya disease, a rare chronic occlusive disorder of cerebrovascular circulation following an acute onset of hemiplegia. The patient presented 9 months later to us with ankylosis of left hip which was successfully treated by surgical excision of the heterotopic bone and there was no recurrence at the end of 5 years. A review of literature failed to reveal a similar case with isolated and complete ossification of iliopsoas muscle associated with Moyamoya disease which required surgical intervention. Surgical excision resulted in dramatic improvement in the quality of life. Surgical excision of neurogenic type of heterotopic ossification is a very successful procedure and timely intervention after maturity of mass is very important to prevent the onset of secondary complications and to avoid recurrence.

The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea

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Young Seok Park

2017-11-01

Full Text Available Although a founder variant of RNF213 4810G>A is a major genetic risk factor for moyamoya disease (MMD in East Asians, the frequency and disease susceptibility of RNF213 variants remain largely unknown. This study investigated the mutation analysis of RNF213 (4448, 4810, 4863, and 4950 between Korean MMD and healthy controls. We performed a polymerase chain reaction-restriction fragment length polymorphism analysis. To identify the association between RNF213 gene polymorphisms and MMD disease, we performed statistical analyses such as multivariable logistic regression and Fisher’s exact test. Genetic data from 117 MMD patients were analyzed and compared with 253 healthy controls. We assessed and compared single nucleotide polymorphisms of RNF213 (4448, 4810, 4863, and 4950 between MMD and control groups. We performed genome-wide association studies to investigate the genetic pathophysiology of MMD. Among the RNF213 variants (4448G>A, 4810G>A, 4863G>A, and 4950G>A, RNF213 4810G>A and 4950G>A variants were more frequent in MMD patients. In a subgroup analysis, the RNF213 4810G>A was more frequent in moyamoya disease, and the comparison with GG+AA genotype was also significantly different in moyamoya patients. These results confirm that RNF213 4810G>A and RNF213 4950G>A were more frequent in MMD patients. We have confirmed that RNF213 4810G>A and 4950G>A are strongly associated with Korean MMD in children and adults as well as for the ischemic and hemorrhagic types.

An evaluation of the cerebral hemodynamics in moyamoya disease with acetazolamide (Diamox) 99mTc-HMPAO SPECT

International Nuclear Information System (INIS)

Qin-Yi, Gao; Kuwabara, Yasuo; Ichiya, Yuichi

1994-01-01

We studied the cerebral hemodynamics using Diamox 99m Tc-HMPAO SPECT in 9 patients with moyamoya disease, consisting of 4 children and 5 adults. Diamox 99m Tc-HMPO SPECT studies were performed by the double injection method. Hypoperfusion areas were scored by a visual inspection as follows: ++, definite positive; +, probable positive; -, negative. Diamox test was interpreted as positive when the score increased over one degree. In the resting state, 6 out of 9 patients showed definite or probable positive hypoperfusion, while all of 9 patients showed a similar finding after Diamox injection. The Diamox test was positive in 6 out of 9 patients. It was positive in all 3 patients who showed a negative hypoperfusion in the resting state. The regional cerebrovascular response to Diamox was most severely impaired in the frontal region. However, it was relatively well preserved in the cerebellum and thalamus according to the semiquantiative analysis. Thus, the Diamox HOPAO SPECT was considered to be useful in evaluating the hemodynamics in patients with moyamoya disease. (author)

Indirect revascularization surgery for moyamoya disease in children and its special considerations

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Kyu-Chang Wang

2012-11-01

Full Text Available Moyamoya disease (MMD is the most common pediatric cerebrovascular disease in Far Eastern countries. In children, MMD frequently manifests as ischemic symptomatology. Cerebral perfusion gradually decreases as the disease progresses, which often leads to cerebral infarction. The benefits of revascularization surgery, whether direct or indirect, have been well established in MMD patients with ischemic symptoms. In adults, the increase in cerebral blood flow achieved with indirect revascularization is often unsatisfactory, and direct revascularization is usually feasible. In children, however, direct revascularization is frequently technically not feasible, whereas the response to indirect revascularization is excellent, although 1 or 2 weeks are required for stabilization of symptoms. The authors describe surgical procedures and perioperative care in indirect revascularization for MMD. In addition, special considerations with regard to very young patients, patients with recent cerebral infarction, and patients with hyperthyroidism are discussed.

A Case of Isolated Middle Cerebral Artery Stenosis with Hemichorea and Moyamoya Pattern Collateralization

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Seok Jong Chung

2013-05-01

Full Text Available Isolated middle cerebral artery (MCA stenosis in young patients with no other medical condition may be a unique pathologic entity with a benign long-term course. Generally, moyamoya disease shows a progression of stenosis from internal cerebral artery (ICA to other intracranial vessel. A 26-year-old woman was admitted for choreic movements of the right arm and leg. Brain magnetic resonance imaging showed no stroke. Conventional angiography revealed 48% stenosis of the left M1 without ICA stenosis. Single photon emission computed tomography revealed perfusion asymmetry after acetazolamide injection, suggesting decreased uptake in the left basal ganglia and the cerebral cortex. Her hemichorea was mildly decreased with risperidone. One year later, follow-up angiography showed complete occlusion of the left M1 with neovascularization suggestive of moyamoya disease. The patient underwent bypass surgery and her hemichorea disappeared. This may be an atypical presentation of moyamoya disease. The bypass surgery was an effective measure for restoring the vascular insufficiency and, resultantly, controlling her hemichorea.

Continent Idiopathic Vesicovaginal Fistula Coexisting with Moyamoya Disease

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İbrahim Güven Kartal

2017-09-01

Full Text Available Vesicovaginal fistula (VVF is the abnormal anatomic communication between the female bladder and vagina. Usually presents itself as continuous urinary incontinence. There are many etiologic risk factors such as obstetric trauma, pelvic surgery, infections, congenital abnormalities, foreign materials, malignancy and pelvic radiation (1. Due to high education and sociocultural levels, the incidence seems to be low in the developed countries. On the other hand, in the developing countries, there is an obviously high incidence and prevalence. Considering the low level of medical informative feed-back mechanisms and poor obstetrics health care services, it seems very hard to keep VVF patient data that can be used for epidemiological research studies. In those areas, due to high maternal mortality and obstetric complications, the incidence of VVF is significantly increased (2. In this paper, we report a female patient with known moyamoya disease and a stable right ovarian cyst who was regularly followed up by the departments of neurology, gynecology and presented with radiological and cystoscopy findings of incidentally diagnosed asymptomatic continent VVF.

Regional cerebral blood flow of Moyamoya disease in the chronic state as studied using a three-dimensional method. With special reference to CO/sub 2/ response and autoregulation

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Ejiri, Takao; Endo, Hideo; Kubo, Naohiko; Kanaya, Haruyuki

1986-02-01

Regional cerebral blood flow (rCBF) was measured in six adult and five juvenile cases with moyamoya disease, using single-photon-emission CT and the Xe-133 inhalation method. In the resting state, the rCBF value in the basal moyamoya region was within normal limits. The characteristic of rCBF was a decrease in the cerebral cortex, especially in the temporal region of the juvenile cases. CO/sub 2/ response by 5 % CO/sub 2/ inhalation was disturbed not only in the cerebral cortex, but also in the basal moyamoya region; also the degree of such impairment showed site-to-site differences. On the other hand, rCBF changes under hyperventilation showed a good response in the cerebral cortex, but was mostly absent in the basal moyamoya region. Autoregulation under induced hypertension seemed to be preserved both in the cerebral cortex and in the basal moyamoya region. Under induced hypotension, however, an impairment of autoregulation was shown both in the cerebral cortex and in the basal moyamoya region. The rCBF value in the cerebellum was slightly higher than that in the cerebrum. The vascular response of the cerebellum was not preserved under hypercapnia and hypotension; however, it showed almost normal behavior under hypocapnia and hypertension. In summary, it might be concluded that the impairment of vascular response in the basal moyamoya region during various functional tests was not due to the secondary effects following the decrease in the rCBF. It may also be speculated that these impairments of vascular response may be directly attributed to various pathological alterations in the arterial vascular wall, i.e., the maximal dilatation and rigidity of the vessels in the moyamoya region, as evidenced in the previous reports.

Doença de Moyamoya e anestesia com sevoflurano fora do centro cirúrgico: relato de caso Enfermedad de Moyamoya y anestesia con sevoflurano fuera del centro quirúrgico: relato de caso Moyamoya disease and sevoflurane anesthesia outside the surgery center: case report

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Sheila Braga Machado

2002-06-01

causa de accidente vascular cerebral en individuos jóvenes. El objetivo de este relato es presentar el caso de un paciente con enfermedad de Moyamoya que fue sometido a anestesia general con sevoflurano para procedimiento diagnóstico fuera del centro quirúrgico. RELATO DEL CASO: Niño con 13 años, estado físico ASA IV, portador de enfermedad de Moyamoya con secuela neurológica después de tres accidentes vasculares cerebrales, insuficiencia renal crónica e hipertensión arterial sistémica, sometido a endoscopia digestiva alta. En decúbito dorsal y después monitorización, se realizó inducción inalatoria por la cánula de traqueostomía con sevoflurano (aumento gradual de la concentración inspiratoria hasta 6% y mezcla de oxígeno/óxido nitroso a 50%. Un catéter venoso fue introducido para infusión de solución glucosada a 5%. Fue realizada ventilación controlada manual, siendo la manutención de la anestesia hecha con sevoflurano a 4% y mezcla de oxígeno/óxido nitroso a 50%. Al final del procedimiento los agentes anestésicos fueron descontinuados simultáneamente y fue administrado oxígeno a 100%. La anestesia fue satisfactoria, con buena estabilidad hemodinámica, sin ocurrencia de complicaciones durante el procedimiento y con un precoz despertar. CONCLUSIONES: El sevoflurano puede ofrecer nuevas perspectivas para la anestesia inhalatoria en pacientes con enfermedad neurológica que realizan procedimiento ambulatorial, ya que permite buena estabilidad hemodinamica y despertar precoz, preservando la fisiología cerebral.BACKGROUND AND OBJECTIVES: Moyamoya disease is a progressive cerebrovascular disorder implying anesthetic challenges due to patients’ poor brain perfusion, in addition to being a major cause for stroke in young people. This report aimed at describing a case of Moyamoya’s disease in a patient submitted to general anesthesia with sevoflurane for a diagnostic procedure outside the surgery center. CASE REPORT: Male child, 13 years

Hemodynamic evaluation of vascular reconstructive surgery for childhood moyamoya disease using single photon emission computed tomography

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Takikawa, Shugo; Kamiyama, Hiroyasu; Abe, Hiroshi [Hokkaido Univ., Sapporo (Japan). School of Medicine; Mitsumori, Kenji; Tsuru, Mitsuo

1990-06-01

To evaluate the efficacy of vascular reconstructive surgery for childhood moyamoya disease, the cerebral blood flow (CBF) in 31 hemispheres of 16 patients was examined by single photon emission computed tomography (SPECT) using the {sup 133}Xe inhalation method. Results were divided into two groups; 17 hemispheres with superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis (A(+) group) and 14 hemispheres without anastomosis (A(-) group). The mean hemispheric CBF (mCBF) and regional CBF (rCBF) in the frontal, temporal, occipital, and basal ganglia regions were calculated. Pre- and postoperative SPECT on the 10 hemispheres of the A(+) group showed an increase in mCBF in 6 hemispheres, the disappearance of the low perfusion area (LPA) in all 5 hemispheres where LPA was present before surgery, and an improvement in rCBF distribution (an increase in rCBF in the frontal and temporal lobes and a decrease in the basal ganglia). This suggests that vascular reconstruction is greatly effective in treating this disease. A comparison between the A(+) group and the A(-) group by postoperative SPECT, as well as the clinical outcomes and the postoperative findings of electroencephalography and angiography, revealed that the A(+) group was superior to the A(-) group in the frequency of LPA (12% and 43%, respectively) and rCBF in the frontal region where STA-MCA anastomosis was usually performed. These results indicate that STA-MCA anastomosis with indirect synangiosis is the most effective treatment of childhood moyamoya disease. (author).

Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease.

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Morimoto, Takaaki; Mineharu, Yohei; Ono, Koh; Nakatochi, Masahiro; Ichihara, Sahoko; Kabata, Risako; Takagi, Yasushi; Cao, Yang; Zhao, Lanying; Kobayashi, Hatasu; Harada, Kouji H; Takenaka, Katsunobu; Funaki, Takeshi; Yokota, Mitsuhiro; Matsubara, Tatsuaki; Yamamoto, Ken; Izawa, Hideo; Kimura, Takeshi; Miyamoto, Susumu; Koizumi, Akio

2017-01-01

The genetic architecture of coronary artery disease has not been fully elucidated, especially in Asian countries. Moyamoya disease is a progressive cerebrovascular disease that is reported to be complicated by coronary artery disease. Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested. We genotyped the RNF213 p.R4810K variant in 956 coronary artery disease patients and 716 controls and tested the association between p.R4810K and coronary artery disease. We also validated the association in an independent population of 311 coronary artery disease patients and 494 controls. In the replication study, the p.R4810K genotypes were imputed from genome-wide genotyping data based on the 1000 Genomes Project. We used multivariate logistic regression analyses to adjust for well-known risk factors such as dyslipidemia and smoking habits. In the primary study population, the frequency of the minor variant allele was significantly higher in patients with coronary artery disease than in controls (2.04% vs. 0.98%), with an odds ratio of 2.11 (p = 0.017). Under a dominant model, after adjustment for risk factors, the association remained significant, with an odds ratio of 2.90 (95% confidence interval: 1.37-6.61; p = 0.005). In the replication study, the association was significant after adjustment for age and sex (odds ratio = 4.99; 95% confidence interval: 1.16-21.53; p = 0.031), although it did not reach statistical significance when further adjusted for risk factors (odds ratio = 3.82; 95% confidence interval: 0.87-16.77; p = 0.076). The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population.

Moyamoya Disease – a Vasculopahty and an Uncommon Cause of Recurrent Cerebrovascular Accidents

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Yasmin S Hamirani

2008-09-01

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Moyamoya disease is a very rare chronic cerebrovascular disease of unknown etiology characterized by recurrent ischemic or hemorrhagic strokes. Initially diagnosed in Japan and named after finding puff of smoke like collateral blood vessels around the occluded blood vessels of circle of Willis. With increase awareness this disease is now diagnosed more often. Medical and surgical treatment have been used to treat the disease, with surgical treatment been mostly experimental. Special attention should be given to the surgical treatment which has shown to have an edge over the medical treatment in some clinical trials especially in young patients with recurrent strokes to prevent progressive cognitive decline and to improve their quality of life. In our patient, who is a young man, the diagnosis was picked up late and when surgical evaluation was performed, it was considered to be fruitless with findings of nonviable brain tissue on MRI imaging.

Moyamoya Disease Clinical Course and Severity in Childhood

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Ayse Kacar Bayram

2016-01-01

Full Text Available Aim: Moyamoya disease (MMD is a rare, progressive and oclusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries (ICA and its main branches. The purpose of this study is to evaluate the clinical course and severity of MMD in pediatric patients. Material and Method: We examined 5 consecutive pediatric patients with MMD, focusing on clinical and radiological features, the therapy and outcome over the 58-month follow-up period. Results: The study population consisted of 3 boys and 2 girls. The mean age at diagnosis of patients was 7.2 ± 3.4 years (age range: 3-10 years. The mean duration of follow-up was 30.4 ± 17.4 months (follow-up interval: 12-58 months. Neurological findings at presentation included: motor deficit in 4 patients (80.0%, epileptic seizures in 2 patients (40.0%, movement disorders in 3 patients (60.0%, and headache in 1 patients (20.0%. There was areas of infarction on brain MRI in all patients. Angiographic findings included: internal carotid artery stenosis in all patients, anterior cerebral artery stenosis in 3 patients, middle cerebral artery stenosis in 3 patients, posterior cerebral artery stenosis in 2 patients, and vertebral artery stenosis in 1 patient. Enoxaparine therapy was started to all patients. Subdural hematoma developed in 1 patient during follow-up. Cerebral infarctions recurred despite medical treatment in 4 patients. Discussion: Although this disease is rare, it is an important cause of pediatric stroke. MMD shows different clinical course and disease severity in childhood. Early diagnosis and appropriate treatment are crucial.

Arterial spin labelling MRI for assessment of cerebral perfusion in children with moyamoya disease: comparison with dynamic susceptibility contrast MRI

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Goetti, Robert [University Children' s Hospital Zurich, Department of Diagnostic Imaging, Zurich (Switzerland); University Hospital Zurich, Department of Diagnostic and Interventional Radiology, Zurich (Switzerland); O' Gorman, Ruth [University Children' s Hospital Zurich, Center for MR Research, Zurich (Switzerland); Khan, Nadia [University Children' s Hospital Zurich, Moyamoya Center, Division of Neurosurgery, Department of Surgery, Zurich (Switzerland); Kellenberger, Christian J.; Scheer, Ianina [University Children' s Hospital Zurich, Department of Diagnostic Imaging, Zurich (Switzerland)

2013-05-15

This study seeks to evaluate the diagnostic accuracy of cerebral perfusion imaging with arterial spin labelling (ASL) MR imaging in children with moyamoya disease compared to dynamic susceptibility contrast (DSC) imaging. Ten children (7 females; age, 9.2 {+-} 5.4 years) with moyamoya disease underwent cerebral perfusion imaging with ASL and DSC on a 3-T MRI scanner in the same session. Cerebral perfusion images were acquired with ASL (pulsed continuous 3D ASL sequence, 32 axial slices, TR = 5.5 s, TE = 25 ms, FOV = 24 cm, matrix = 128 x 128) and DSC (gradient echo EPI sequence, 35 volumes of 28 axial slices, TR = 2,000 ms, TE = 36 ms, FOV = 24 cm, matrix = 96 x 96, 0.2 ml/kg Gd-DOTA). Cerebral blood flow maps were generated. ASL and DSC images were qualitatively assessed regarding perfusion of left and right ACA, MCA, and PCA territories by two independent readers using a 3-point-Likert scale and quantitative relative cerebral blood flow (rCBF) was calculated. Correlation between ASL and DSC for qualitative and quantitative assessment and the accuracy of ASL for the detection of reduced perfusion per territory with DSC serving as the standard of reference were calculated. With a good interreader agreement ({kappa} = 0.62) qualitative perfusion assessment with ASL and DSC showed a strong and significant correlation ({rho} = 0.77; p < 0.001), as did quantitative rCBF (r = 0.79; p < 0.001). ASL showed a sensitivity, specificity and accuracy of 94 %, 93 %, and 93 % for the detection of reduced perfusion per territory. In children with moyamoya disease, unenhanced ASL enables the detection of reduced perfusion per vascular territory with a good accuracy compared to contrast-enhanced DSC. (orig.)

Statistical image analysis of cerebral blood flow in moyamoya disease

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Yamada, Masaru; Yuzawa, Izumi; Suzuki, Sachio; Kurata, Akira; Fujii, Kiyotaka; Asano, Yuji

2007-01-01

The Summary of this study was to investigate pathophysiology of moyamoya disease, we analyzed brain single photon emission tomography (SPECT) images of patients with this disease by using interface software for a 3-dimensional (3D) data extraction format. Presenting symptoms were transient ischemic attack (TIA) in 21 patients and hemorrhage in 6 patients. All the patients underwent brain SPECT scan of 123 I-iofetamine (IMP) at rest and after acetazolamide challenge (17 mg/kg iv, 2-day method). Cerebral blood flow (CBF) was quantitatively measured using arterial blood sampling and an autoradiography model. The group of the patients who presented with TIAs showed decreased CBF in the frontal lobe at rest compared to that of patients with hemorrhage, but Z-score ((mean-patient data)/ standard deviation (SD)) did not reach statistical significance. Significant CBF decrease after acetazolamide challenge was observed in a wider cerebral cortical area in the TIA group than in the hemorrhagic group. The brain region of hemodynamic ischemia (stage II) correlated well with the responsible cortical area for clinical symptoms of TIA. A hemodynamic ischemia stage image clearly represented recovery of reserve capacity after bypass surgery. Statistical evaluation of SPECT may be useful to understand and clarify the pathophysiology of this disease. (author)

Dental Management of a Pediatric Patient with Moyamoya Syndrome: A Rare Clinical Entity.

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Ko, Brittany L; Unkel, John H

2018-01-01

Moyamoya disease (MMD) is a rare cerebrovascular disorder involving progressive constriction of the internal carotid artery and its branches. The disease has a particularly aggressive course in very young patients, and early surgical intervention is often necessary to prevent permanent neurological damage. MMD patients have an increased risk of stroke development, which may be provoked by pain or anxiety. Currently, no reports of pediatric patients with MMD exist in the dental literature. The purpose of this paper was to discuss the dental management of a two-year-old with moyamoya disease who presented with early childhood caries and dental fear, offering recommendations for dental providers with emphasis on stroke prevention, collaboration with the medical team, anesthesia considerations for patients with increased stroke risk, and the challenges to maintain the oral health of a patient undergoing complex medical treatment.

Evolution into moyamoya disease in an infant with internal carotid artery aneurysms

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Ryosuke Tanaka

2017-03-01

Conclusions: This is the first report of MMD in which ICA aneurysms and occlusions developed bilaterally in early infancy without moyamoya collateral vessels. Our case indicates that angiogenesis at the base of the brain may occur following extracellular matrix remodeling at the terminal portion of the ICAs.

Doença de Moyamoya e anestesia com sevoflurano fora do centro cirúrgico: relato de caso Enfermedad de Moyamoya y anestesia con sevoflurano fuera del centro quirúrgico: relato de caso Moyamoya disease and sevoflurane anesthesia outside the surgery center: case report

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Sheila Braga Machado; Florentino Fernandes Mendes; Adriana de Campos Angelini

2002-01-01

JUSTIFICATIVA E OBJETIVOS: A doença de Moyamoya é uma desordem cerebrovascular progressiva que representa um desafio anestésico em virtude da precária circulação cerebral destes pacientes, constituindo-se numa importante causa de acidente vascular cerebral em indivíduos jovens. O objetivo deste relato é apresentar o caso de um paciente com doença de Moyamoya que foi submetido à anestesia geral com sevoflurano para procedimento diagnóstico fora do centro cirúrgico. RELATO DO CASO: Criança com ...

Electroconvulsive therapy in a patient with moyamoya syndrome.

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Ghignone, Erica; Rosenthal, Lisa; Lloyd, Robert Brett; Mouli, Samdeep; Dinwiddie, Stephen

2015-03-01

We report on a 30-year-old woman diagnosed with moyamoya syndrome resulting from sickle cell disease who developed catatonia and was successfully treated with electroconvulsive therapy (ECT). Neuroimaging revealed severe tandem narrowing of the left internal carotid artery with diminished cerebral blood flow, moderate narrowing of the right supraclinoid aspect of the right internal carotid artery, and associated numerous lenticulostriate collaterals bilaterally, consistent with moyamoya. The patient presented with mutism; posturing; immobility; stupor; withdrawal; refusal to eat, drink, or speak; and staring, supporting a diagnosis of catatonia. It initially responded to a lorazepam challenge; however, a complicated hospital course and deterioration of the patient's condition, including septic shock, delirium, and continued catatonic symptoms, led to the pursuit of ECT to treat her symptoms. We discuss the risks involved with the administration of ECT in a patient with fragile cerebral vasculature and the successful treatment of catatonia in this patient without resultant stroke or cerebral hemorrhage.

Voxel Based Analysis of Surgical Revascularization for Moyamoya Disease: Pre- and Postoperative SPECT Studies.

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Yasutaka Fushimi

Full Text Available Moyamoya disease (MMD is a chronic, progressive, cerebrovascular occlusive disease that causes abnormal enlargement of collateral pathways (moyamoya vessels in the region of the basal ganglia and thalamus. Cerebral revascularization procedures remain the preferred treatment for patients with MMD, improving the compromised cerebral blood flow (CBF. However, voxel based analysis (VBA of revascularization surgery for MMD based on data from pre- and postoperative data has not been established. The latest algorithm called as Diffeomorphic Anatomical Registration Through Exponentiated Lie Algebra (DARTEL has been introduced for VBA as the function of statistical parametric mapping (SPM8, and improved registration has been achieved by SPM8 with DARTEL. In this study, VBA was conducted to evaluate pre- and postoperative single photon emission computed tomography (SPECT images for MMD by SPM8 with DARTEL algorithm, and the results were compared with those from SPM8 without DARTEL (a conventional method. Thirty-two patients with MMD who underwent superficial temporal artery-middle cerebral artery (STA-MCA bypass surgery as the first surgery were included and all patients underwent pre- and postoperative 3D T1-weighted imaging and SPECT. Pre- and postoperative SPECT images were registered to 3D T1-weighted images, then VBA was conducted. Postoperative SPECT showed more statistically increased CBF areas in the bypassed side cerebral hemisphere by using SPM8 with DARTEL (58,989 voxels; P<0.001, and increased ratio of CBF after operation was less than 15%. Meanwhile, postoperative SPECT showed less CBF increased areas by SPM8 without DARTEL. In conclusion, VBA was conducted for patients with MMD, and SPM8 with DARTEL revealed that postoperative SPECT showed statistically significant CBF increases over a relatively large area and with at most 15% increase ratio.

The relationship between cerebral infarction on MR and angiographic findings in moyamoya disease: significance of the posterior circulation

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Lee, Eun Ja; Song, Soon Young [College of Medicine, Kwangdong Univ., Koyang (Korea, Republic of); Yu, Won Jong; Jung, So Lyung; Chung, Bong Gak; Kag, Si Won [College of Medicine, The Catholic Univ. of Korea, Seoul (Korea, Republic of); Kim, Man Deuk [College of Medicine, Pochon CHA Univ., Pochon (Korea, Republic of)

2002-06-01

To investigate the relationship between changes in the posterior and anterior circulation, as seen at angiography, and the frequency and extent of cerebral infarction revealed by MR imaging in moyamoya disease. This study involved 34 patients (22 females and 12 males, aged 2-52 years) in whom cerebral angiography revealed the presence of moyamoya disease (bilateral; unilateral= 24:10; total hemispheres=58) and who also underwent brain MR imaging. To evaluate the angiographic findings, we applied each angiographic staging system to the anterior and posterior circulation. Leptomeningeal collateral circulation from the cortical branches of the posterior cerebral artery (PCA) was also assigned one of four grades. At MR imaging, areas of cerebral cortical or subcortical infarction in the hemisphere were divided into six zones. White matter and basal ganglionic infarction, ventricular dilatation, cortical atrophy, and hemorrhagic lesions were also evaluated. To demonstrate the statistical significance of the relationship between the angiographic and the MR findings, both the Mantel-Haenszel chi-square test for trend and the chi-square test were used. The degree of steno-occlusive PCA change correlated significantly with the internal carotid artery (ICA) stage (p<0.0001). As PCA stages advanced, the degree of leptomeningeal collaterals from the PCA decreased significantly (P<0.0001), but ICA stages were not significant (p>0.05). The prevalence of infarction showed significant correlation with the degree of steno-occlusive change in both the ICA and PCA. The degree of cerebral ischemia in moyamoya patients increased proportionally with the severity of PCA stenosis rather than with that of steno-occlusive lesins of the anterior circulation. Infarctions tended to be distributed in the anterior part of the hemisphere at PCA state I or II, while in more advanced PCA lesions, they were also found posteriorly, especially in the territories of the posterior middle cerebral artery

Ivy Sign on Fluid-Attenuated Inversion Recovery Images in Moyamoya Disease: Correlation with Clinical Severity and Old Brain Lesions

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Seo, Kwon-Duk; Suh, Sang Hyun; Kim, Yong Bae; Kim, Ji Hwa; Ahn, Sung Jun; Kim, Dong-Seok; Lee, Kyung-Yul

2015-01-01

Purpose Leptomeningeal collateral, in moyamoya disease (MMD), appears as an ivy sign on fluid-attenuated inversion-recovery (FLAIR) images. There has been little investigation into the relationship between presentation of ivy signs and old brain lesions. We aimed to evaluate clinical significance of ivy signs and whether they correlate with old brain lesions and the severity of clinical symptoms in patients with MMD. Materials and Methods FLAIR images of 83 patients were reviewed. Each cerebr...

The usefulness of the ivy sign on fluid-attenuated intensity recovery images in improved brain hemodynamic changes after superficial temporal artery-middle cerebral artery anastomosis in adult patients with moyamoya disease.

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Lee, Jung Keun; Yoon, Byul Hee; Chung, Seung Young; Park, Moon Sun; Kim, Seong Min; Lee, Do Sung

2013-10-01

MR perfusion and single photon emission computerized tomography (SPECT) are well known imaging studies to evaluate hemodynamic change between prior to and following superficial temporal artery (STA)-middle cerebral artery (MCA) anastomosis in moyamoya disease. But their side effects and invasiveness make discomfort to patients. We evaluated the ivy sign on MR fluid attenuated inversion recovery (FLAIR) images in adult patients with moyamoya disease and compared it with result of SPECT and MR perfusion images. We enrolled twelve patients (thirteen cases) who were diagnosed with moyamoya disease and underwent STA-MCA anastomosis at our medical institution during a period ranging from September of 2010 to December of 2012. The presence of the ivy sign on MR FLAIR images was classified as Negative (0), Minimal (1), and Positive (2). Regions were classified into four territories: the anterior cerebral artery (ACA), the anterior MCA, the posterior MCA and the posterior cerebral artery. Ivy signs on preoperative and postoperative MR FLAIR were improved (8 and 4 in the ACA regions, 13 and 4 in the anterior MCA regions and 19 and 9 in the posterior MCA regions). Like this result, the cerebrovascular reserve (CVR) on SPECT was significantly increased in the sum of CVR in same regions after STA-MCA anastomosis. After STA-MCA anastomosis, ivy signs were decreased in the cerebral hemisphere. As compared with conventional diagnostic modalities such as SPECT and MR perfusion images, the ivy sign on MR FLAIR is considered as a useful indicator in detecting brain hemodynamic changes between preoperatively and postoperatively in adult moyamoya patients.

Management of moyamoya syndrome in patients with Noonan syndrome.

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Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

Mechanism of the re-buildup phenomenon in moyamoya disease; Analysis of local cerebral hemodynamics with intra-arterial digital subtraction angiography

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Touho, Hajime; Karasawa, Jun; Shishido, Hisashi; Morisako, Toshitaka; Yamada, Keisuke; Nagai, Shigeki; Shibamoto, Kenji [Osaka Neurological Institute, Osaka (Japan)

1990-10-01

The authors investigated the mechanism of the re-buildup phenomenon on electroencephalogram in 14 patients of moyamoya disease with superficial temporal artery-middle cerebral artery anastomosis. Visualization of the lateral view of the common carotid angiography was performed with intra-arterial digital subtraction angiography (IA-DSA), using a 4/sec x 3 sec + 2/sec x 5 sec + 1/sec x 5 sec film sequence. The catheter tip was inserted into C5/6 level and 250 mgl/ml of iopamidol was used as the contrast agent; 6 ml in total was injected over 1.5 seconds. Circulation times of the common carotid artery (C{sub 3} portion)-ascending parietal vein ({delta}TTP{sub s}) and common carotid artery-internal cerebral vein ({delta}TTP{sub D}) were measured before hyperventilation (HV), immediately after HV, and 3 minutes after HV during pre- and postoperative periods. {delta}TTP{sub D} in the preoperative period was prolonged by HV and was normalized at 3 minutes after HV but {delta}TTP{sub S} were prolonged immediately after and 3 minutes after HV. In the postoperative period, however, these values did not change significantly immediately after and 3 minutes after HV. These findings indicate that delayed cerebral blood flow response to HV is a pathogenetic factor of the re-buildup phenomenon in moyamoya disease. (author).

Enfermedad de moyamoya, macrocefalia y déficit intelectual en un adolescente

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José Vargas Díaz

2013-03-01

Full Text Available El patrón moyamoya se caracteriza por un estrechamiento crónico progresivo de la porción terminal de la arteria carótida interna o sus principales ramas terminales principalmente. Los niños con moyamoya típicamente se presentan con ictus arteriales isquémicos, o con accidentes isquémicos transitorios. Se presenta el caso clínico de un adolescente, con déficit intelectual y macrocránea, con evidencia en los estudios de resonancia magnética nuclear cerebral de infartos arteriales isquémicos a repetición, e imágenes sugestivas de moyamoya, y se comprueba el patrón moyamoya por angiografía de sustracción digital. Comprobado el diagnóstico de enfermedad de moyamoya, el objetivo con este enfermo fue tratar de mejorar la irrigación cerebral, planteando la necesidad de someter al paciente a cirugía de revascularización, y, mientras esto no fuera posible, usar aspirina como antiagregante plaquetario, en un intento de impedir o disminuir el riesgo de nuevos infartos cerebrales o de accidentes transitorios isquémicos a repetición.

Serial 99mTc-HMPAO Brain SPECT for Assessing Perfusion Improvement after DEAS in Moyamoya Patients

International Nuclear Information System (INIS)

Lee, Kyung Han; Lee, Sang Hyung; Yeo, Jeong Seok; Kwark, Chul Eun; Chung, June Key; Lee, Myoung Chul; Cho, Byoung Kyu; Koh, Chang Soon

1994-01-01

Encephalo-duro-arterio-synangiosis (EDAS) is a relatively new surgical procedure for treatment of childhood moyamoya disease. We assessed regional cerebral perfusion in moyamoya patients before (1.3 mo) and after (6.8 mo) EDAS with 99m Tc-HMPAO brain SPECT. A total of 21 EDAS operations in 17 moyamoya patients was included. Preoperative CT or MRI showed cerebral infarction in 14 patients and carotid angiography showed Suzuki grade 1 to V stenosis in 6%, 9%, 62%, 12% and 12% of the hemispheres respectively. Preoperative SPECT showed regional hypoperfusion in all patients, bilateral frontal and temporal loves being the most frequently involved site. 4 X 4 pixel sized ROIs were applied on the frontotemmporal cortex in 3 slice averaged transverse tomographic images. An index of regional perfusion was measured as; PI (%)=average FT activity/average cerebellar activity X 100 Pre-EDAS ipsilateral PI ranged from 23.7 to 98.4% (mean:74.3 ± 17%) and increased significantly after operation (81.4 ± 17%, p 90, 0.5) (p<0.001). The amount of perfusion improvement (PI) showed significant correlation with CI (r-0.42, p=0.04). PI did not, however, correlate with the amount of neovascularization assessed angiographically in 8 patients. Serial HMPAO SPECT is an useful noninvasive study for assessing perfusion improvement after EDAS in childhood moyamoya patients.

Missing relationship of moyamoya and persistent primitive artery in Europeans. Another distinctive feature or artifact?

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Wenz, Holger; Wenz, Ralf; Förster, Alex; Fontana, Johann; Kerl, Hans Ulrich; Groden, Christoph; Scharf, Johann

2015-11-01

Previous studies found higher incidence of persistent primitive arteries in Asian moyamoya (MM) patients than in the general population, which was thought to be a characteristic trait of the MM entity in general. We analyzed incidence of persistent primitive arteries and demographics of patients with European MM treated in one single center. First, we compared our large dataset to existing literature and second, we raised the question whether European MM demonstrates similar high prevalence of persistent primitive arteries as it was previously presented within Asian MM. All European MM on whom revascularization surgery was performed from 1999 to 2013 were included. Demographics and associated diseases were obtained by retrospective chart review. Two independent readers evaluated 122 MM angiograms to determine the occurrence of persistent primitive arteries as well as the Suzuki score. We identified 112 cases with MM disease, 10 with MM syndrome. Mean age at time of diagnosis was 38.2 (range 6-64 years); a peak incidence in early childhood was not observed. Ninety (73.8%) were women, associated systemic diseases were found in four patients. Seven cases (5.7%) presented with unilaterally affected vessels. The majority of patients (71; 58.2%) were graded Suzuki Score 3. One 14-year-old boy with moyamoya presented with a primitive trigeminal artery (0.89%). We did not find a bimodal age distribution, but only a second peak during adulthood. Unlike previous studies on Asian moyamoya patients, our collective does not exhibit a higher prevalence of persistent primitive arteries than the normal population.

Assessment of the hemodynamic changes after EDAS combined with bifrontal EGS in pediatric patients with moyamoya disease

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Song, Yoo Sung; Kim, Yu Kyeong; Lee, Jae Sung; Kim, Seung Ki; Lee, Dong Soo; Chung, June Key; Lee, Myung Chul [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

2007-07-01

To assess the effect of encephaloduroarteriosynangiosis (EDAS) with or without bifrontal encephalogaleosynangiosis (EGS) in children with moyamoya disease, we evaluated cerebral hemodynamic changes using brain Tc-99m HMPAO SPECT. Total 34 pediatric patients (M: F=12:22, mean age;93 yrs) enrolled. Bypass surgery for both hemispheres (EDAS with EGS on one side, and EDAS on the other side) in 25 patients, unilateral EDAS with EGS in 7, and unilateral EDAS only in 2 were underwent. Perfusion SPECT before surgery, and 4 to 18 months after final surgery were done. The vascular territories for ICA, MCA and the brain regions for the frontal, parietal, temporal, and the occipital cortices were determined using standard ROls based on K-SPAM. Additionally, medial frontal cortex was selected to assess the effect of EGS. Basal/acetazolamide challenged cerebral blood flow (CBF), and cerebral vascular index (CVRI) were determined using normalized regional brain uptake to the cerebellum. 24 patients became symptom free, and 6 were improved but having some residual symptoms at the last follow up period. The other 3 were worsened after operation. Overall basal/acetazolamide stress CBF and CVRI for each brain region after surgery were increased, however, only the changes of CVRI were significant. Meanwhile, the improvement of CBF or CVRI in the brain regions ipsilateral to the hemisphere having EDAS with EGS was not significantly different when compared with those for the brain regions with EDAS only. Also, the hemodynamic improvement for the mesial frontal cortex in patients after EDAS with EGS was not significant, and showed no difference with those in patient with EDAS only. Quantitative perfusion SPECT demonstrated the hemodynamic improvement after EDAS with or without EGS in pediatric moyamoya disease. Cerebrovascular reserve showed meaningful improvement after surgery, implicating the effect of vascular anastomosis in ischemic areas.

Assessment of the hemodynamic changes after EDAS combined with bifrontal EGS in pediatric patients with moyamoya disease

International Nuclear Information System (INIS)

Song, Yoo Sung; Kim, Yu Kyeong; Lee, Jae Sung; Kim, Seung Ki; Lee, Dong Soo; Chung, June Key; Lee, Myung Chul

2007-01-01

To assess the effect of encephaloduroarteriosynangiosis (EDAS) with or without bifrontal encephalogaleosynangiosis (EGS) in children with moyamoya disease, we evaluated cerebral hemodynamic changes using brain Tc-99m HMPAO SPECT. Total 34 pediatric patients (M: F=12:22, mean age;93 yrs) enrolled. Bypass surgery for both hemispheres (EDAS with EGS on one side, and EDAS on the other side) in 25 patients, unilateral EDAS with EGS in 7, and unilateral EDAS only in 2 were underwent. Perfusion SPECT before surgery, and 4 to 18 months after final surgery were done. The vascular territories for ICA, MCA and the brain regions for the frontal, parietal, temporal, and the occipital cortices were determined using standard ROls based on K-SPAM. Additionally, medial frontal cortex was selected to assess the effect of EGS. Basal/acetazolamide challenged cerebral blood flow (CBF), and cerebral vascular index (CVRI) were determined using normalized regional brain uptake to the cerebellum. 24 patients became symptom free, and 6 were improved but having some residual symptoms at the last follow up period. The other 3 were worsened after operation. Overall basal/acetazolamide stress CBF and CVRI for each brain region after surgery were increased, however, only the changes of CVRI were significant. Meanwhile, the improvement of CBF or CVRI in the brain regions ipsilateral to the hemisphere having EDAS with EGS was not significantly different when compared with those for the brain regions with EDAS only. Also, the hemodynamic improvement for the mesial frontal cortex in patients after EDAS with EGS was not significant, and showed no difference with those in patient with EDAS only. Quantitative perfusion SPECT demonstrated the hemodynamic improvement after EDAS with or without EGS in pediatric moyamoya disease. Cerebrovascular reserve showed meaningful improvement after surgery, implicating the effect of vascular anastomosis in ischemic areas

De novo appearance of primitive neuroectodermal tumor in a patient with systemic lupus erythematosus and moyamoya disease.

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Park, D J; Kim, T J; Lee, H J; Lee, K E; Lee, S J; Seo, S R; Yoon, W; Moon, K S; Lee, K W; Lee, S S; Park, Y W

2010-07-01

Primitive neuroectodermal tumor is a rare brain tumor composed of undifferentiated or poorly differentiated neuroepithelial cells with a high malignant potential that usually occurs in children, and which is only occasionally encountered in adults. A 19-year-old female with systemic lupus erythematosus presented with right hemiparesis and a headache of 10 days duration. Brain magnetic resonance imaging showed a large solid mass with necrotic portions in the left frontoparietal lobe. Primitive neuroectodermal tumor was confirmed by a neuronavigator-guided brain biopsy. This is the first case report of primitive neuroectodermal tumor associated with systemic lupus erythematosus and moyamoya disease. This case demonstrates that brain tumors, such as primitive neuroectodermal tumor, should be included in the differential diagnosis of neurological manifestations in children and adolescent patients with systemic lupus erythematosus.

Perfusion characteristics of Moyamoya disease: an anatomically and clinically oriented analysis and comparison.

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Schubert, Gerrit Alexander; Czabanka, Marcus; Seiz, Marcel; Horn, Peter; Vajkoczy, Peter; Thomé, Claudius

2014-01-01

Moyamoya disease (MMD) is characterized by unique angiographic features of collateralization. However, a detailed quantification as well as comparative analysis with cerebrovascular atherosclerotic disease (CAD) and healthy controls have not been performed to date. We reviewed 67 patients with MMD undergoing Xenon-enhanced computed tomography, as well as 108 patients with CAD and 5 controls. In addition to cortical, central, and infratentorial regions of interest, particular emphasis was put on regions that are typically involved in MMD (pericallosal territory, basal ganglia). Cerebral blood flow (CBF), cerebrovascular reserve capacity (CVRC), and hemodynamic stress distribution were calculated. MMD is characterized by a significant, ubiquitous decrease in CVRC and a cortical but not pericallosal decrease in CBF when compared with controls. Baseline perfusion is maintained within the basal ganglia, and hemodynamic stress distribution confirmed a relative preservation of central regions of interest in MMD, indicative for its characteristic proximal collateralization pattern. In MMD and CAD, cortical and central CBF decreased significantly with age, whereas CVRC and hemodynamic stress distribution are relatively unaffected by age. No difference in CVRC of comparable regions of interest was seen between MMD and CAD, but stress distribution was significantly higher in MMD, illustrating the functionality of the characteristic rete mirabilis. Our data provide quantitative support for a territory-specific perfusion pattern that is unique for MMD, including central preservation of CBF compared with controls and patients with CAD. This correlates well with its characteristic feature of proximal collateralization. CVRC and hemodynamic stress distribution seem to be more robust parameters than CBF alone for assessment of disease severity.

Leptomeningeal contrast enhancement in moyamoya: its potential role in postoperative assessment of circulation through the bypass

International Nuclear Information System (INIS)

Komiyama, M.; Nakajima, H.; Nishikawa, M.; Yasui, T.; Kitano, S.; Sakamoto, H.

2001-01-01

Leptomeningeal contrast enhancement (LMCE) is one of the MRI features of moyamoya. Its clinical significance, however, is not elucidated. Our purpose was to characterise LMCE on MRI and to evaluate its role in the assessment of circulation through a surgically established bypass in moyamoya. We studied 16 patients with idiopathic moyamoya (seven males, nine females, includingt four children, aged 7 to 54 years, mean 24 years) who underwent T1-weighted MRI before and after intravenous contrast medium. The presence of LMCE, its intensity and anatomical distribution, catheter angiographic findings, and relation of LMCE to the bypass surgery were assessed. More LMCE was seen in the cerebrum in most patients with moyamoya than in normal controls. LMCE in the brain stem and cerebellum was minimal, similar to that seen in the controls. LMCE was less prominent following surgery than before operation or in patients who did not undergo surgery. In three patients examined both before and after operation LMCE became less prominent following bypass surgery. As LMCE becomes less prominent after ''effective'' bypass surgery, this may be used for evaluation of effectiveness of surgery in moyamoya. (orig.)

Direct versus indirect revascularization procedures for moyamoya disease: a comparative effectiveness study.

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Macyszyn, Luke; Attiah, Mark; Ma, Tracy S; Ali, Zarina; Faught, Ryan; Hossain, Alisha; Man, Karen; Patel, Hiren; Sobota, Rosanna; Zager, Eric L; Stein, Sherman C

2017-05-01

OBJECTIVE Moyamoya disease (MMD) is a chronic cerebrovascular disease that can lead to devastating neurological outcomes. Surgical intervention is the definitive treatment, with direct, indirect, and combined revascularization procedures currently employed by surgeons. The optimal surgical approach, however, remains unclear. In this decision analysis, the authors compared the effectiveness of revascularization procedures in both adult and pediatric patients with MMD. METHODS A comprehensive literature search was performed for studies of MMD. Using complication and success rates from the literature, the authors constructed a decision analysis model for treatment using a direct and indirect revascularization technique. Utility values for the various outcomes and complications were extracted from the literature examining preferences in similar clinical conditions. Sensitivity analysis was performed. RESULTS A structured literature search yielded 33 studies involving 4197 cases. Cases were divided into adult and pediatric populations. These were further subdivided into 3 different treatment groups: indirect, direct, and combined revascularization procedures. In the pediatric population at 5- and 10-year follow-up, there was no significant difference between indirect and combination procedures, but both were superior to direct revascularization. In adults at 4-year follow-up, indirect was superior to direct revascularization. CONCLUSIONS In the absence of factors that dictate a specific approach, the present decision analysis suggests that direct revascularization procedures are inferior in terms of quality-adjusted life years in both adults at 4 years and children at 5 and 10 years postoperatively, respectively. These findings were statistically significant (p indirect and combination procedures may offer optimal results at long-term follow-up.

Assessment of Cerebral Hemodynamic Changes in Pediatric Patients with Moyamoya Disease Using Probabilistic Maps on Analysis of Basal/Acetazolamide Stress Brain Perfusion SPECT

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Lee, Ho Young; Lee, Jae Sung; Kim, Seung Ki; Wang, Kyu Chang; Cho, Byung Kyu; Chung, June Key; Lee, Myung Chul; Lee, Dong Soo [Seoul National University College of Medicine, Seoul (Korea, Republic of)

2008-06-15

To evaluate the hemodynamic changes and the predictive factors of the clinical outcome in pediatric patients with moyamoya disease, we analyzed pre/post basal/acetazolamide stress brain perfusion SPECT with automated volume of interest (VOIs) method. Total fifty six (M:F=33:24, age 6.7{+-}3.2 years) pediatric patients with moyamoya disease, who underwent basal/acetazolamide stress brain perfusion SPECT within 6 before and after revascularization surgery (encephalo-duro-arterio-synangiosis (EDAS) with frontal encephalo-galeo-synangiosis (EGS) and EDAS only followed on contralateral hemisphere), and followed-up more than 6 months after post-operative SPECT, were included. A mean follow-up period after post-operative SPECT was 33{+-}21 months. Each patient's SPECT image was spatially normalized to Korean template with the SPM2. For the regional count normalization, the count of pons was used as a reference region. The basal/acetazolamide-stressed cerebral blood flow (CBF), the cerebral vascular reserve index (CVRI), and the extent of area with significantly decreased basal/acetazolamide- stressed rCBF than age-matched normal control were evaluated on both medial frontal, frontal, parietal, occipital lobes, and whole brain in each patient's images. The post-operative clinical outcome was assigned as good, poor according to the presence of transient ischemic attacks and/or fixed neurological deficits by pediatric neurosurgeon. In a paired t-test, basal/acetazolamide-stressed rCBF and the CVRI were significantly improved after revascularization (p<0.05). The significant difference in the pre-operative basal/acetazolamide-stressed rCBF and the CVRI between the hemispheres where EDAS with frontal EGS was performed and their contralateral counterparts where EDAS only was done disappeared after operation (p<0.05). In an independent student t-test, the pre-operative basal rCBF in the medial frontal gyrus, the post-operative CVRI in the frontal lobe and the parietal

Moyamoya syndrome as a risk factor for stroke in Saudi children: Novel and usual associations

International Nuclear Information System (INIS)

Salih, Mustafa A.; Al-Jarallah, Ahmed A.; Kentab, Amal Y.; Murshid, Waleed R.; Elgamal, Essam A.; Al-Salman, Mussaad M.; Abdel-Gader, Abdel-Galil M.; Alorainy, Ibrahim A.; Hassan, Hamdy H.; Othman, Saleh A.; El-Desouki, Mahmoud I.; Maldergem, L. V.

2006-01-01

To report on moyamoya syndrome (MMS) as a risk factor for stroke in a prospective and retrospective cohort of Saudi children. The usual and novel associations of MMS in this cohort will also be described. Children with stroke were evaluated at the Division of Pediatric Neurology at King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February201 to March 2003 (retrospective study). Investigations for suspected cases included hemostatic assays, biochemical, and serological tests. Neuroimaging included CT, MRI, magnetic resonance angiography (MRA), single photon computerized tomography (SPECT) brain scan and conventional cerebral angiography. Moyamoya syndrome was the underlying risk factor for stroke in 6 (5.8%) of the 104 children (aged one month to 12 years). They were 4 females and 2 males. Their first cerebral ischemic event occurred at a mean age of 45 months (median = 44 months, range 17-66 months). In all 6 cases, MMS was associated with an underlying hematologic abnormality or other diseases. Protein C deficiency was identified in one girl and protein S deficiency in another. Two patients had retrospectively, sickle cell disease (SCD) and sickle cell-b-thalassemia (Sb-thalssemia), which had been associated in the latter with membranous ventricular septal defect. Adams-Oliver syndrome (AOS, OMIM 100300) was associated with MMS in an 18-month-old girl. A 4-year-old boy had wrinkly skin syndrome (WWS, OMIM 278250) phenotype. The association of MMS and protein C deficiency was first reported in this cohort of patients, whereas the association of the syndrome with WWS and AOS has not, hitherto, been described. The 3 patients who had MMS associated with protein C deficiency, SCD, and AOS underwent successful revascularization surgery in the form of encephaloduroarteriosynangiosis. Moyamoya syndrome constitutes an important risk factor of

Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series

International Nuclear Information System (INIS)

Law-ye, Bruno; Saliou, Guillaume; Toulgoat, Frederique; Tardieu, Marc; Deiva, Kumaran; Adamsbaum, Catherine; Husson, Beatrice

2016-01-01

Moyamoya syndrome is characterised by an occlusion of the carotid terminations with the development of collateral vessels. Our objective is to describe a series of infants presenting early-onset moyamoya-like syndrome, which may constitute a distinct entity. From a cohort of children with rare cerebral vascular pathologies, we studied eight infants (28 days-1 year) with early-onset moyamoya-like syndrome demonstrated by angiography. We retrospectively analysed the patterns on MRI and MRA, as well as all other available data. Median age at diagnosis was 7 months (IQR: 6-8) with arterial ischaemic stroke in the middle cerebral artery territory. All of the children experienced severe stroke recurrence within a median time of 11 months (IQR: 10-12), and all showed extraneurological symptoms. The anterior cerebral circulation was involved in all cases and the posterior circulation was involved in six. Two children died and all of the other children suffered permanent neurological deficits. The presence of extraneurological signs in cases of early-onset moyamoya syndrome is suggestive of a newly described systemic vasculopathy with predominantly cerebrovascular expression. Given its rapid progression marked by severe recurrent strokes and poor clinical outcome, early diagnosis could help in the decision to institute aggressive therapy. (orig.)

Posterior cerebral artery involvement in moyamoya disease: initial infarction and angle between PCA and basilar artery.

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Lee, Ji Yeoun; Kim, Seung-Ki; Cheon, Jung-Eun; Choi, Jung Won; Phi, Ji Hoon; Kim, In-One; Cho, Byung-Kyu; Wang, Kyu-Chang

2013-12-01

Moyamoya disease (MMD) is a chronic cerebrovascular occlusive disease, and progressive involvement of the posterior cerebral artery (PCA) has been reported. However, majority of MMD articles are presenting classic anterior circulation related issues. This study investigates the preoperative factors related to the long-term outcome of posterior circulation in MMD. Retrospective review of 88 MMD patients (166 PCAs in either hemisphere) without symptomatic disease involvement of PCA at initial diagnosis was done. Data at initial diagnosis regarding age, presence of infarction, status of the PCA, type of posterior communicating artery, and the angle between PCA and basilar artery were reviewed. Progressive stenosis of PCA was evaluated by symptom or radiological imaging during follow up. During an average follow up of 8.3 years, 29 out of 166 (18 %) evaluated PCAs showed progressive disease involvement. The average time of progression from the initial operation was 4.9 years, with the latest onset at 10.8 years. The patients who showed progressive stenosis of the PCA tended to be younger, present with infarction, have smaller angle between PCA and basilar artery, and have asymptomatic stenosis of the PCA at initial presentation. However, multivariate analysis confirmed only the presence of initial infarction and a smaller angle between PCA and basilar artery to be significantly associated with progressive stenosis of PCA. Involvement of PCA in MMD may occur in a delayed fashion, years after the completion of revascularization of anterior circulation. Persistent long-term follow-up regarding the posterior circulation is recommended.

Chronic subdural hematoma associated with moyamoya phenomenon after radiotherapy for medulloblastoma; A case report

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Fuse, Takahisa; Takagi, Takuji; Fukushima, Tsuneyuki; Mizuno, Shiroh; Hashimoto, Nobukazu; Suzuki, Osamu (Nagoya City Higashi General Hospital (Japan))

1994-04-01

A 9-year-old boy had been diagnosed at the age of 9 months as having a cerebellar medulloblastoma and had received 40 Gy of radiation therapy to the brain after removal of the tumor. Cerebral angiography at the time of initial diagnosis did not show any evidence of occlusive disease involving the internal carotid circulation. At the age of 6 years, the patient developed generalized seizures. On examination, he was drowsy and had right hemiparesis. CT scan demonstrated a low-density area in the left frontal lobe. Cerebral angiography showed a marked narrowing of the bilateral internal carotid arteries with moyamoya vessels. The patient was treated medically with aspirin (100 mg/day) and anticonvulsants. His neurological deficits improved gradually. At the age of 8 years, there was no recurrence of the tumor although a slight left subdural hematoma was seen on CT scan. On August 10, 1993, at the age of 9 years, he was admitted for treatment of a developing subdural hematoma. MRI showed a chronic subdural hematoma with thick outer and inner membranes. Cerebral angiography showed occlusion of the left internal carotid artery which fed the right frontal lobe through moyamoya vessels, marked narrowing of the right internal carotid artery distal to the ophthalmic artery, moyamoya vessels at the base, and cortical revascularization througth the ophthalmic, posterior cerebral and middle meningeal arteries. Trepanation and aspiration of the hematoma were performed. The outer membrane of the hematoma was about 2 mm thick and the hematoma cavity was filled with a partially organized hematoma. In this case, we speculate that development of the chronic subdural hematoma involved the following factors: (1) transdural external-internal carotid anastomosis after radiation-induced cerebrovasculopathy; (2) repeated mild head trauma due to gait disturbance after removal of the cerebellar tumor; and (3) administration of acetylsalicylic acid. (author).

Neurologic Deterioration in Patients with Moyamoya Disease during Pregnancy, Delivery, and Puerperium.

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Park, Wonhyoung; Ahn, Jae Sung; Chung, Jaewoo; Chung, Yeongu; Lee, Seungjoo; Park, Jung Cheol; Kwun, Byung Duk

2018-03-01

We reviewed our clinical experience of patients with moyamoya disease (MMD) who gave birth and assessed characteristics of those experiencing neurologic deterioration. The patients were classified into patients diagnosed with MMD during pregnancy and puerperium (group 1) and those diagnosed before pregnancy (group 2). We retrospectively reviewed patient characteristics, MMD treatment, neurologic symptoms before and during pregnancy and/after puerperium, obstetrical history, and delivery type in groups 1 and 2. Group 1 included 2 patients with deterioration of pre-existing transient ischemic attacks (TIAs) and acute cerebral infarction and 1 patient with seizures and newly developed TIAs during pregnancy and/or puerperium. Group 2 included 20 patients with 23 pregnancies. In group 2, 4 patients had deterioration of TIAs during pregnancy and puerperium. There were significant differences between the cases without neurologic deterioration and with deterioration in group 2 (TIAs ≥10 before pregnancy, 0% vs. 75%, P = 0.002; severely reduced regional cerebrovascular reserve on single-photon emission computed tomography, 10.5% vs. 100%, P = 0.002; and surgical revascularization before pregnancy, 75% vs. 15.8%, P = 0.04). In groups 1 and 2, 6 of the 7 cases in which TIAs occurred or worsened during pregnancy or puerperium recovered to prepregnancy TIA levels after puerperium. Patients with severely reduced regional cerebrovascular reserve on single-photon emission computed tomography and frequent TIAs before pregnancy may experience neurologic deterioration during pregnancy, delivery, and puerperium. Surgical revascularization before pregnancy may decrease neurologic deterioration during these periods. Copyright © 2017 Elsevier Inc. All rights reserved.

Biomarker research for moyamoya disease in cerebrospinal fluid using surface-enhanced laser desorption/ionization time-of-flight mass spectrometry.

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Maruwaka, Mikio; Yoshikawa, Kazuhiro; Okamoto, Sho; Araki, Yoshio; Sumitomo, Masaki; Kawamura, Akino; Yokoyama, Kinya; Wakabayashi, Toshihiko

2015-01-01

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by steno-occlusive change in bilateral internal carotid arteries with unknown etiology. To discover biomarker candidates in cerebrospinal fluid from MMD patients, proteome analysis was performed by the surface-enhanced laser desorption/ionization time-of-flight mass spectrometry. Three peptides, 4473Da, 4475Da, and 6253Da, were significantly elevated in MMD group. A positive correlation between 4473Da peptide and postoperative angiogenesis was determined. Twenty MMD patients were enrolled in this pilot study, including 11 pediatric cases less than 18 years of age (mean age, 8.67 years) and 9 adult MMD patients (mean age, 38.1 years). This study also includes 17 control cases with the mean age of 27.9 years old. In conclusion, 4473Da peptide is supposed to be a reliable biomarker of MMD. 4473Da peptide showed higher intensity peaks especially in younger MMD patients, and it was proved to be highly related to postoperative angiogenesis. Further study is needed to show how 4473Da peptide is involved with the etiology and the onset of MMD. Copyright © 2015 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Síndrome de Down e Moyamoya: estudo através de metanálise Moyamoya and Down syndrome: study conducted by meta-analysis

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Paulo Alves Junqueira

2002-06-01

Full Text Available Apresentamos o estudo clínico-epidemiológico de dois pacientes e metanálise (período 1977-2000 sobre a comorbidade entre síndrome de Down (SD e síndrome de "moyamoya" (SMM. Entre os 42 pacientes catalogados no presente estudo, a metanálise permitiu verificar: maior número de publicações de pesquisadores do Japão e Estados Unidos, seguidos pelo Brasil e Itália; predomínio do acidente vascular cerebral (AVC em lactentes e pré-escolares; sintomatologia inaugural, hemiparesia (78,6%, distúrbio da fala (26,2%; predomínio de infarto isquêmico (76,2%; episódios isquêmicos recorrentes (62%; comprometimento bilateral (83,3%. Esta análise permitiu concluir que, na investigação clínico-neurológica de pacientes com SD e episódios de hemiparesia aguda, a SMM deve ser incluída como diagnóstico mais provável .We present a clinic-epidemiological study of two patients and meta-analysis (period 1977-2000 of the co-morbidity of the Down syndrome (DS and moyamoya syndrome (MMS. Among the 42 patients listed in this survey, meta-analysis permitted to find the highest number of publications by researchers from Japan and United States, followed by Brazil and Italy; prevalence of cerebrovascular disease in suckling and pre school children; first symptomatology was hemiparesis (78.6%, speech disorders (26.2%; ischemic infarction (76.2%; recurring ischemic episodes (62%; bilateral impairment (83.3%. This analysis led to the conclusion that in the clinic-neurological investigation of DS patients with acute hemiparesis episodes, MMS should be included as the most probable diagnosis.

Comparison of 7T and 3T MRI in patients with moyamoya disease.

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Oh, Byeong Ho; Moon, Hyeong Cheol; Baek, Hyeon Man; Lee, Youn Joo; Kim, Sang Woo; Jeon, Young Jai; Lee, Gun Seok; Kim, Hong Rae; Choi, Jai Ho; Min, Kyung Soo; Lee, Mou Seop; Kim, Young Gyu; Kim, Dong Ho; Kim, Won Seop; Park, Young Seok

2017-04-01

Magnetic resonance imaging and magnetic resonance angiography (MRI/MRA) are widely used for evaluating the moyamoya disease (MMD). This study compared the diagnostic accuracy of 7Tesla (T) and 3T MRI/MRA in MMD. In this case control study, 12 patients [median age: 34years; range (10-66years)] with MMD and 12 healthy controls [median age: 25years; range (22-59years)] underwent both 7T and 3T MRI/MRA. To evaluate the accuracy of MRI/MRA in MMD, five criteria were compared between imaging systems of 7T and 3T: Suzuki grading system, internal carotid artery (ICA) diameter, ivy sign, flow void of the basal ganglia on T2-weighted images, and high signal intensity areas of the basal ganglia on time-of-flight (TOF) source images. No difference was observed between 7T and 3T MRI/MRA in Suzuki stage, ICA diameter, and ivy sign score; while, 7T MRI/MRA showed a higher detection rate in the flow void on T2-weighted images and TOF source images (p<0.001). Receiver operating characteristic curves of both T2 and TOF criteria showed that 7T MRI/MRA had higher sensitivity and specificity than 3T MRI/MRA. Our findings indicate that 7T MRI/MRA is superior to 3T MRI/MRA for the diagnosis of MMD in point of detecting the flow void in basal ganglia by T2-weighted and TOF images. Copyright © 2016. Published by Elsevier Inc.

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

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Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

2015-03-01

Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

A patient with Moyamoya-like vessels after radiation therapy for a tumor in the basal ganglia

International Nuclear Information System (INIS)

Ishiyama, Koichi; Tomura, Noriaki; Kato, Koki; Takahashi, Satoshi; Watarai, Jiro; Sasajima, Toshio; Mizoi, Kazuo

2001-01-01

A patient with Moyamoya-like vessels after radiation therapy for treatment of a tumor in the basal ganglia is reported. He was diagnosed as Down syndrome at birth. He had a tumor in the left basal ganglionic region at 12 years of the age. The tumor increased in size at age 14. He underwent cerebral angiography, which did not show a stenosis nor occlusion of the internal carotid artery, anterior cerebral artery, nor the middle cerebral artery. He received radiation therapy with a total dose of 56 Gy. He presented a dressing apraxia at age 19. MRI showed cerebral infarction in the left temporo-occipital region. Right internal carotid angiography revealed a severe stenosis of the internal carotid artery and anterior cerebral artery as well as a severe stenosis of the middle cerebral artery on the right side. Moyamoya-like vessels were seen in the basal ganglionic region. Left internal carotid angiography also showed a stenosis of the internal carotid artery and anterior cerebral artery as well as a severe stenosis of the middle cerebral artery on the left side. Moyamoya-like vessels were seen in the basal ganglionic region. Leptomeningeal anastomose and transdural anastomose were bilaterally seen. These arterial occlusion and stenotic phenomenon corresponded to a previous radiation field. These Moyamoya-like vessels with arterial stenosis and occlusion were thought to be due to radiation-induced vasculopathy, because a previous cerebral angiography showed a normal caliber of cerebral arteries. This patient showed that patients with radiation therapy in their early childhood should be carefully observed considering the possibility of the phenomenon. (author)

Doença de Moyamoya e anestesia com sevoflurano fora do centro cirúrgico: relato de caso

OpenAIRE

Machado, Sheila Braga; Mendes, Florentino Fernandes; Angelini, Adriana de Campos

2002-01-01

JUSTIFICATIVA E OBJETIVOS: A doença de Moyamoya é uma desordem cerebrovascular progressiva que representa um desafio anestésico em virtude da precária circulação cerebral destes pacientes, constituindo-se numa importante causa de acidente vascular cerebral em indivíduos jovens. O objetivo deste relato é apresentar o caso de um paciente com doença de Moyamoya que foi submetido à anestesia geral com sevoflurano para procedimento diagnóstico fora do centro cirúrgico. RELATO DO CASO: Criança com ...

Beta-thalassemia intermedia associated with moyamoya syndrome.

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Göksel, Basak Karakurum; Ozdogu, Hakan; Yildirim, Tulin; Oğuzkurt, Levent; Asma, Suheyl

2010-07-01

Moyamoya syndrome (MMS) is a progressive disorder. We report a 19-year-old boy with beta-thalassemia who presented with a left hemiparesis. Brain MRI showed old middle cerebral artery and left frontal subcortical white matter infarcts. Brain magnetic resonance angiography and digital subtraction angiography revealed occlusion of the bilateral internal carotid arteries with a rich network of basal collateral vessels. To our knowledge this is the third report of beta-thalassemia intermedia and MMS, and the first report of a patient in Turkey. It emphasizes the potential for cerebral infarct due to anemia, protein S and thrombocytosis.

Outcome in adult patients with hemorrhagic moyamoya disease after combined extracranial-intracranial bypass.

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Jiang, Hanqiang; Ni, Wei; Xu, Bin; Lei, Yu; Tian, Yanlong; Xu, Feng; Gu, Yuxiang; Mao, Ying

2014-11-01

The outcome of patients with hemorrhagic moyamoya disease (MMD) after cerebral revascularization is uncertain. The purpose of this study was to delineate the efficacy of this surgical method in the treatment of hemorrhagic MMD. Between January 2007 and August 2011, a consecutive cohort of 113 patients with hemorrhagic MMD was enrolled into this prospective single-center cohort study. The surgical method was combined direct and indirect bypass. The cumulative probability of the primary end point (all stroke and deaths from surgery through 30 days after surgery and ipsilateral recurrent hemorrhage afterward) was analyzed. The angiographic outcome was measured by the following parameters: bypass patency, reduction of basal MMD vessels, improved degree of dilation, and branch extension of the anterior choroidal and posterior communicating arteries (AChA-PCoA). Of the 113 enrolled cases, CT scans revealed pure intraventricular hemorrhage (IVH) in 63 cases (55.7%), pure intracranial hemorrhage (ICH) in 14 cases (12.4%), and ICH with IVH in 36 cases (31.9%). In 74 of 113 hemorrhagic hemispheres (65.5%), the AChA-PCoA was extremely dilated with extensive branches beyond the choroidal fissure. A total of 114 surgeries were performed. No patient suffered ischemic or hemorrhagic stroke through 30 days after surgery. Ipsilateral rebleeding occurred in 5 patients, 4 of whom died of the rebleeding event. The cumulative probability of the primary end point was 0% at 1 year and 1.9% at 2 years. The annual rebleeding rate was 1.87%/person/year. The improvement in AChA-PCoA extension was observed in 75 of 107 operated hemispheres (70.1%), which was higher than that in 7 of 105 unoperated hemispheres (35.2%). Revascularization may provide a benefit over conservative therapy for hemorrhagic MMD patients. The improvement of dilation and branch extension of AChA-PCoA might be correlated with the low rebleeding rate.

Comparison of 7.0- and 3.0-T MRI and MRA in ischemic-type moyamoya disease: preliminary experience.

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Deng, Xiaofeng; Zhang, Zihao; Zhang, Yan; Zhang, Dong; Wang, Rong; Ye, Xun; Xu, Long; Wang, Bo; Wang, Kai; Zhao, Jizong

2016-06-01

OBJECT The authors compared the image quality and diagnostic sensitivity and specificity of 7.0-T and 3.0-T MRI and time-of-flight (TOF) MR angiography (MRA) in patients with moyamoya disease (MMD). METHODS MR images of 15 patients with ischemic-type MMD (8 males, 7 females; age 13-48 years) and 13 healthy controls (7 males, 6 females; age 19-28 years) who underwent both 7.0-T and 3.0-T MRI and MRA were studied retrospectively. The main intracranial arteries were assessed by using the modified Houkin's grading system (MRA score). Moyamoya vessels (MMVs) were evaluated by 2 grading systems: the MMV quality score and the MMV area score. Two diagnostic criteria for MMD were used: the T2 criteria, which used flow voids in the basal ganglion on T2-weighted images, and the TOF criteria, which used the high-intensity areas in the basal ganglion on source images from TOF MRA. All data were evaluated by 2 independent readers who were blinded to the strength field and presence or absence of MMD. Using conventional angiography as the gold standard, the sensitivity and specificity of 7.0-T and 3.0-T MRI/MRA in the diagnosis of MMD were calculated. The differences between 7.0-T and 3.0-T MRI and MRA were statistically compared. RESULTS No significant differences were observed between 7.0-T and 3.0-T MRA in MRA score (p = 0.317) or MRA grade (p = 0.317). There was a strong correlation between the Suzuki's stage and MRA grade in both 3.0-T (rs = 0.930; p 3.0-T MRA, suggested by both the MMV quality score (p = 0.001) and the MMV area score (p = 0.001). The correlation between the Suzuki's stage and the MMV area score was moderate in 3.0-T MRA (rs = 0.738; p = 0.002) and strong in 7.0-T MRA (rs = 0.908; p 3.0-T MRI/MRA (sensitivity 0.692; specificity 0.933) in diagnosing MMD; based on the TOF criteria, 7.0-T MRI/MRA was more sensitive (1.000 vs 0.733, respectively) and more specific (1.000 vs 0.923, respectively) than 3.0-T MRI/MRA. CONCLUSIONS Compared with 3.0-T MRI/MRA, 7.0-T

Ivy Sign on Fluid-Attenuated Inversion Recovery Images in Moyamoya Disease: Correlation with Clinical Severity and Old Brain Lesions.

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Seo, Kwon-Duk; Suh, Sang Hyun; Kim, Yong Bae; Kim, Ji Hwa; Ahn, Sung Jun; Kim, Dong-Seok; Lee, Kyung-Yul

2015-09-01

Leptomeningeal collateral, in moyamoya disease (MMD), appears as an ivy sign on fluid-attenuated inversion-recovery (FLAIR) images. There has been little investigation into the relationship between presentation of ivy signs and old brain lesions. We aimed to evaluate clinical significance of ivy signs and whether they correlate with old brain lesions and the severity of clinical symptoms in patients with MMD. FLAIR images of 83 patients were reviewed. Each cerebral hemisphere was divided into 4 regions and each region was scored based on the prominence of the ivy sign. Total ivy score (TIS) was defined as the sum of the scores from the eight regions and dominant hemispheric ivy sign (DHI) was determined by comparing the ivy scores from each hemisphere. According to the degree of ischemic symptoms, patients were classified into four subgroups: 1) nonspecific symptoms without motor weakness, 2) single transient ischemic attack (TIA), 3) recurrent TIA, or 4) complete stroke. TIS was significantly different as follows: 4.86±2.55 in patients with nonspecific symptoms, 5.89±3.10 in patients with single TIA, 9.60±3.98 in patients with recurrent TIA and 8.37±3.39 in patients with complete stroke (p=0.003). TIS associated with old lesions was significantly higher than those not associated with old lesions (9.35±4.22 vs. 7.49±3.37, p=0.032). We found a significant correlation between DHI and motor symptoms (p=0.001). Because TIS has a strong tendency with severity of ischemic motor symptom and the presence of old lesions, the ivy sign may be useful in predicting severity of disease progression.

Brain Stem Infarction Due to Basilar Artery Dissection in a Patient with Moyamoya Disease Four Years after Successful Bilateral Revascularization Surgeries.

Science.gov (United States)

Abe, Takatsugu; Fujimura, Miki; Mugikura, Shunji; Endo, Hidenori; Tominaga, Teiji

2016-06-01

Moyamoya disease (MMD) is a rare cerebrovascular disease with an unknown etiology and is characterized by intrinsic fragility in the intracranial vascular walls such as the affected internal elastic lamina and thinning medial layer. The association of MMD with intracranial arterial dissection is extremely rare, whereas that with basilar artery dissection (BAD) has not been reported previously. A 46-year-old woman developed brain stem infarction due to BAD 4 years after successful bilateral superficial temporal artery-middle cerebral artery anastomosis with indirect pial synangiosis for ischemic-onset MMD. She presented with sudden occipitalgia and subsequently developed transient dysarthria and mild hemiparesis. Although a transient ischemic attack was initially suspected, her condition deteriorated in a manner that was consistent with left hemiplegia with severe dysarthria. Magnetic resonance (MR) imaging revealed brain stem infarction, and MR angiography delineated a double-lumen sign in the basilar artery, indicating BAD. She was treated conservatively and brain stem infarction did not expand. One year after the onset of brain stem infarction, her activity of daily living is still dependent (modified Rankin Scale of 4), and there were no morphological changes associated with BAD or recurrent cerebrovascular events during the follow-up period. The association of MMD with BAD is extremely rare. While considering the common underlying pathology such as an affected internal elastic lamina and fragile medial layer, the occurrence of BAD in a patient with MMD in a stable hemodynamic state is apparently unique. Copyright © 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.

When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.

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Scala, Marcello; Fiaschi, Pietro; Capra, Valeria; Garrè, Maria Luisa; Tortora, Domenico; Ravegnani, Marcello; Pavanello, Marco

2018-07-01

Moyamoya disease (MMD) is a cerebrovascular disorder characterized by the progressive occlusion of the supraclinoid internal carotid artery (ICA), resulting in the formation of an abnormal cerebral vascular network. When MMD occurs in association with an underlying medical condition, including some distinctive genetic disorders, it is named moyamoya syndrome (MMS). The discrimination between MMD and MMS has been validated by recent genetic researches and international reviews. Similarly to patients suffering from MMD, patients with MMS generally become symptomatic because of ischemic complications, which lead to hemiparesis, transient ischemic events, seizures, and sensory symptoms. RASopathies are a group of neurodevelopmental disorders that can be associated with MMS. We retrospectively reviewed 18 RASopathy patients with MMS treated at our institution from 2000 to 2015 (16 neurofibromatosis type 1, 1 Costello syndrome, and 1 Schimmelpenning syndrome). Here, we report clinical data, performed surgical procedures, and clinic-radiological outcome of these patients. Most of them received both indirect revascularization and medical therapy. At the moment, there are no univocal recommendations on which of these two treatment strategies is the treatment of choice in patients with RASopathies and MMS. We suggest that patients with a good overall prognosis (primarily depending on the distinctive underlying genetic disorder) and initial cerebrovascular disease could benefit from a prophylactic surgical revascularization, in order to prevent the cognitive impairment due to the progression of the vasculopathy.

Chronologic Evaluation of Cerebral Hemodynamics by Dynamic Susceptibility Contrast Magnetic Resonance Imaging After Indirect Bypass Surgery for Moyamoya Disease.

Science.gov (United States)

Ishii, Yosuke; Tanaka, Yoji; Momose, Toshiya; Yamashina, Motoshige; Sato, Akihito; Wakabayashi, Shinichi; Maehara, Taketoshi; Nariai, Tadashi

2017-12-01

Although indirect bypass surgery is an effective treatment option for patients with ischemic-onset moyamoya disease (MMD), the time point after surgery at which the patient's hemodynamic status starts to improve and the time point at which the improvement reaches a maximum have not been known. The objective of the present study is to evaluate the hemodynamic status time course after indirect bypass surgery for MMD, using dynamic susceptibility contrast-magnetic resonance imaging (DSC-MRI). We retrospectively analyzed the cases of 25 patients with MMD (37 sides; mean age, 14.7 years; range, 3-36 years) who underwent indirect bypass surgery and repeated DSC-MRI measurement within 6 months after the operation. The difference in the mean transit time (MTT) between the target regions and the control region (cerebellum) was termed the MTT delay, and we measured the MTT delay's chronologic changes after surgery. The postoperative MTT delay was 1.81 ± 1.16 seconds within 1 week after surgery, 1.57 ± 1.01 at weeks 1-2, 1.55 ± 0.68 at weeks 2-4, 1.32 ± 0.68 at months 1-2, 0.95 ± 0.32 at months 2-3, and 0.77 ± 0.33 at months 3-6. Compared with the preoperative value (2.11 ± 0.98 seconds), the MTT delay decreased significantly from 2 to 4 weeks after surgery (P surgery began soon after surgery and gradually reached a maximum at 3 months after surgery. DSC-MRI detected small changes in hemodynamic improvement, which are suspected to be caused by the initiation of angiogenesis and arteriogenesis in the early postoperative period. Copyright © 2017. Published by Elsevier Inc.

The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality

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Hitomi, Toshiaki [Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Habu, Toshiyuki [Radiation Biology Center, Kyoto University, Kyoto (Japan); Kobayashi, Hatasu; Okuda, Hiroko; Harada, Kouji H. [Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Osafune, Kenji [Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto (Japan); Taura, Daisuke; Sone, Masakatsu [Department of Medicine and Clinical Science, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Asaka, Isao; Ameku, Tomonaga; Watanabe, Akira; Kasahara, Tomoko; Sudo, Tomomi; Shiota, Fumihiko [Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto (Japan); Hashikata, Hirokuni; Takagi, Yasushi [Department of Neurosurgery, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Morito, Daisuke [Faculty of Life Sciences, Kyoto Sangyo University, Kyoto (Japan); Miyamoto, Susumu [Department of Neurosurgery, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Nakao, Kazuwa [Department of Medicine and Clinical Science, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Koizumi, Akio, E-mail: koizumi.akio.5v@kyoto-u.ac.jp [Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Kyoto (Japan)

2013-10-04

Highlights: •Overexpression of RNF213 R4810K inhibited cell proliferation. •Overexpression of RNF213 R4810K had the time of mitosis 4-fold and mitotic failure. •R4810K formed a complex with MAD2 more readily than wild-type. •iPSECs from the MMD patients had elevated mitotic failure compared from the control. •RNF213 R4810K induced mitotic abnormality and increased risk of aneuploidy. -- Abstract: Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the Circle of Willis. The RNF213 R4810K polymorphism increases susceptibility to MMD. In the present study, we characterized phenotypes caused by overexpression of RNF213 wild type and R4810K variant in the cell cycle to investigate the mechanism of proliferation inhibition. Overexpression of RNF213 R4810K in HeLa cells inhibited cell proliferation and extended the time of mitosis 4-fold. Ablation of spindle checkpoint by depletion of mitotic arrest deficiency 2 (MAD2) did not shorten the time of mitosis. Mitotic morphology in HeLa cells revealed that MAD2 colocalized with RNF213 R4810K. Immunoprecipitation revealed an RNF213/MAD2 complex: R4810K formed a complex with MAD2 more readily than RNF213 wild-type. Desynchronized localization of MAD2 was observed more frequently during mitosis in fibroblasts from patients (n = 3, 61.0 ± 8.2%) compared with wild-type subjects (n = 6, 13.1 ± 7.7%; p < 0.01). Aneuploidy was observed more frequently in fibroblasts (p < 0.01) and induced pluripotent stem cells (iPSCs) (p < 0.03) from patients than from wild-type subjects. Vascular endothelial cells differentiated from iPSCs (iPSECs) of patients and an unaffected carrier had a longer time from prometaphase to metaphase than those from controls (p < 0.05). iPSECs from the patients and unaffected carrier had significantly increased mitotic failure rates compared with controls (p < 0.05). Thus, RNF213 R4810K induced mitotic abnormalities and increased risk of genomic instability.

The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality

International Nuclear Information System (INIS)

Hitomi, Toshiaki; Habu, Toshiyuki; Kobayashi, Hatasu; Okuda, Hiroko; Harada, Kouji H.; Osafune, Kenji; Taura, Daisuke; Sone, Masakatsu; Asaka, Isao; Ameku, Tomonaga; Watanabe, Akira; Kasahara, Tomoko; Sudo, Tomomi; Shiota, Fumihiko; Hashikata, Hirokuni; Takagi, Yasushi; Morito, Daisuke; Miyamoto, Susumu; Nakao, Kazuwa; Koizumi, Akio

2013-01-01

Highlights: •Overexpression of RNF213 R4810K inhibited cell proliferation. •Overexpression of RNF213 R4810K had the time of mitosis 4-fold and mitotic failure. •R4810K formed a complex with MAD2 more readily than wild-type. •iPSECs from the MMD patients had elevated mitotic failure compared from the control. •RNF213 R4810K induced mitotic abnormality and increased risk of aneuploidy. -- Abstract: Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the Circle of Willis. The RNF213 R4810K polymorphism increases susceptibility to MMD. In the present study, we characterized phenotypes caused by overexpression of RNF213 wild type and R4810K variant in the cell cycle to investigate the mechanism of proliferation inhibition. Overexpression of RNF213 R4810K in HeLa cells inhibited cell proliferation and extended the time of mitosis 4-fold. Ablation of spindle checkpoint by depletion of mitotic arrest deficiency 2 (MAD2) did not shorten the time of mitosis. Mitotic morphology in HeLa cells revealed that MAD2 colocalized with RNF213 R4810K. Immunoprecipitation revealed an RNF213/MAD2 complex: R4810K formed a complex with MAD2 more readily than RNF213 wild-type. Desynchronized localization of MAD2 was observed more frequently during mitosis in fibroblasts from patients (n = 3, 61.0 ± 8.2%) compared with wild-type subjects (n = 6, 13.1 ± 7.7%; p < 0.01). Aneuploidy was observed more frequently in fibroblasts (p < 0.01) and induced pluripotent stem cells (iPSCs) (p < 0.03) from patients than from wild-type subjects. Vascular endothelial cells differentiated from iPSCs (iPSECs) of patients and an unaffected carrier had a longer time from prometaphase to metaphase than those from controls (p < 0.05). iPSECs from the patients and unaffected carrier had significantly increased mitotic failure rates compared with controls (p < 0.05). Thus, RNF213 R4810K induced mitotic abnormalities and increased risk of genomic instability

Role of CT perfusion imaging in evaluating the effects of multiple burr hole surgery on adult ischemic Moyamoya disease

Energy Technology Data Exchange (ETDEWEB)

Dai, Dong Wei; Zhao, Wen Yuan; Yang, Zhi Gang; Li, Qiang; Liu, Jian Min [Second Military Medical University, Department of Neurosurgery, Changhai Hospital, Shanghai (China); Zhang, Yong Wei [Second Military Medical University, Department of Neurology, Changhai Hospital, Shanghai (China); Xu, Bing; Ma, Xiao Long; Tian, Bing [Second Military Medical University, Department of Radiology, Changhai Hospital, Shanghai (China)

2013-12-15

To evaluate the effects of the multiple burr hole (MBH) revascularization on ischemic type adult Moyamoya disease (MMD) by computed tomography perfusion (CTP). Eighty-six ischemic MMD patients received CTP 1 week before and 3 weeks after MBH operation. Fifty-seven patients received it again at 6 month and underwent digital subtraction angiography (DSA) and mRS follow-up. Cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT), time to peak (TTP), and relative values of ischemic symptomatic hemispheres were measured. Differences in pre- and post-surgery perfusion CT values were assessed. There were significant differences of CBF, TTP, and relative time to peak (rTTP) in ischemic hemisphere between 1 week before and 3 weeks after surgery, and no significant difference in relative cerebral blood flow (rCBF), CBV, relative cerebral blood volume (rCBV), MTT, relative mean transit time (rMTT). According to whether there was symptom improvement or not on 3 weeks after MBH, the rTTP value was not statistically significant in the patients whose symptoms were not improved at all on 3 weeks after operation. Six-month follow-up showed that CBF, rCBF, and rCBV values were significantly higher than those before operation. Postoperative MTT, TTP, rMTT, and rTTP values were significantly lower than those before operation. CTP is a sensitive method to obtain functional imaging of cerebral microcirculation, which can be a noninvasive assessment of the abnormalities of intracranial arteries and cerebral perfusion changes in MMD before and after surgery. CBF and TTP map, especially the relative values of TTP, seems to have the capability of being quite sensitive to the presence of altered brain perfusion at early time after indirect revascularization. (orig.)

Association between Champagne Bottle Neck Sign of Internal Carotid Artery and Ipsilateral Hemorrhagic Stroke in Patients with Moyamoya Disease.

Science.gov (United States)

Wang, Jian; Chen, Gong; Yang, Yongbo; Zhang, Bing; Jia, Zhongzhi; Gu, Peiyuan; Wei, Dong; Ji, Jing; Hu, Weixing; Zhao, Xihai

2018-06-15

To assess the association between champagne bottle neck sign (CBNS) in carotid artery and intracranial hemorrhage in patients with moyamoya disease (MMD). From January 2016 to December 2017, a total of 76 consecutive patients with MMD without definite risk factors associated intracranial hemorrhage who underwent preoperative angiography were included in this retrospective study. CBNS was defined as luminal diameter of internal carotid artery (ICA)/common carotid artery (CCA) ≤ 0.5 on angiographic imaging. The right and left cerebral hemisphere in each patient was separately identified as hemorrhagic and none-hemorrhagic. The association between CBNS and intracranial hemorrhage was analyzed. Of 76 MMD patients, intracranial hemorrhage was found in 44 (28.9%) hemispheres of 152 and 6.8% (3/44) had multiple events. Compared carotid arteries without intracranial hemorrhage in the ipsilateral hemispheres, those with intracranial hemorrhage in the ipsilateral hemispheres had significantly smaller luminal diameter ratio of ICA/CCA (0.49 ± 0.11 vs. 0.55 ± 0.12, p < 0.01) and higher prevalence of CBNS (63.7% vs. 41.7%, p = 0.01). For hemispheres with intracranial hemorrhage, those with ipsilateral carotid artery CBNS had significantly higher prevalence of hemorrhage at posterior territories than those without (57.1% vs. 23.1%, p=0.05). Logistic regression revealed that CBNS was significantly associated with ipsilateral intracranial hemorrhage before (OR, 2.45; 95% CI, 1.19-5.05; p=0.02) and after (OR, 3.43; 95% CI, 1.50-7.87; p<0.01) adjusted for female, lenticulostriate anastomosis, and choroidal anastomosis. CBNS is significantly associated with intracranial hemorrhage at ipsilateral hemisphere in MMD patients, particularly for intracranial hemorrhage at posterior territories. Copyright © 2018. Published by Elsevier Inc.

"STA-MCA bypass with encephalo-duro-myo-synangiosis combined with bifrontal encephalo-duro-periosteal-synangiosis" as a one-staged revascularization strategy for pediatric moyamoya vasculopathy

NARCIS (Netherlands)

Esposito, G.; Kronenburg, A.; Fierstra, J.; Braun, K.P.; Klijn, C.J.M.; Zwan, A. van der; Regli, L.

2015-01-01

PURPOSE: Moyamoya vasculopathy progressively compromises cerebral blood flow resulting in chronic hypoperfusion. The middle cerebral artery (MCA) territory and the bifrontal areas are the regions most frequently affected. Although most techniques aim to only revascularize the MCA territory,

Dynamic computed tomography findings in cerebrovascular diseases

International Nuclear Information System (INIS)

Araki, Yutaka; Tomoda, Kaname; Kariya, Mitsumasa; Mori, Shigeru; Mitomo, Masanori.

1988-01-01

Dynamic CT was performed with 41 patients with the clinically diagnosed cerebrovascular diseases. A visual evaluation based on the dynamic CT images classified six patterns of brain parenchymal enhancement, especially four patterns of which could only be detected by dynamic CT technique. Dynamic CT was proved of great value in detecting regional cerebral tissue filled by collaterals in retrograde fashion because of the occlusion of main arteries, namely brain tissue perfusion of internal carotid occlusion disease and moyamoya disease was best understood by dynamic CT with adequate resolution. (author)

Moyamoya Disease

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... Stroke Association 9707 East Easter Lane Suite B Centennial CO Centennial, CO 80112-3747 info@stroke.org http://www. ... Stroke Association 9707 East Easter Lane Suite B Centennial CO Centennial, CO 80112-3747 info@stroke.org ...

Impact of vessel wall lesions and vascular stenoses on cerebrovascular reactivity in patients with intracranial stenotic disease

NARCIS (Netherlands)

Cogswell, Petrice M; Davis, Taylor L; Strother, Megan K; Faraco, Carlos C; Scott, Allison O; Jordan, Lori C; Fusco, Matthew R; Frederick, Blaise deB; Hendrikse, Jeroen; Donahue, Manus J

2017-01-01

PURPOSE: To compare cerebrovascular reactivity (CVR) and CVR lagtimes in flow territories perfused by vessels with vs. without proximal arterial wall disease and/or stenosis, separately in patients with atherosclerotic and nonatherosclerotic (moyamoya) intracranial stenosis. MATERIALS AND METHODS:

Operative neurosurgery. Personal view and historical backgrounds. (9) Moyamoya angiopathy (MMA). Past history and status presens

International Nuclear Information System (INIS)

Yonekawa, Yasuhiro

2012-01-01

The second international meeting on the Moyamoya angiopathy (MMA) was held in mid. July 2011 at the children's hospital Zurich by Frau PD Dr.Khan and Prof.Meuli. On this occasion I was asked to give a survey of this disease, so the following points were presented and discussed: Who was the person who discovered this disease. How has the Research Committee of the Ministry of Health and Welfare, Japan (RCMHWJ) contributed to clarify the epidemiology, etiology, pathophysiology and treatments. What is the current situation in foreign countries especially Euroamerican to date on these topics. How the treatment technique developed and who did the initial revascularization procedures for the first. Update of the disease. Established view; discovery of the disease by Tekeuchi and Shimizu in 1955 could have been called somewhat into question as they described neither abnormal vasculature nor transdural anastomosis. Kudo who described ''spontaneous occlusion of the circle of Willis'' more precisely, but seemed to have thought that the occlusion site of the internal carotid artery (ICA) is around the origin of the ophthalmic artery. Suzuki and Takaku who coined the name Moyamoya disease (MMD) in 1969 and described 6 stages of progression on the basis of observation on 20 cases. The RCMHWJ founded in 1977 has contributed to clarifying the epidemiology, pathophysiology, treatment and etiology by interdisciplinary cooperative study having some epoch making events especially; by setting the guide lines -diagnostic criteria of the disease at the end of 1970, applying MRI and MR angiography (MRA) at the beginning of 1990 for the diagnosis instead of angiography used until then. By finding and focusing, therefore, on the cases of asymptomatic or oligosymptomatic presentation around the middle of 2000, which have almost doubled or tripled in incidence and/or prevalence and also changed the age distribution with the higher peak for adult cases. Achievements of research for the

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Full Text Available ... St. Francis Hospital, Greenville, SC, 4/20/2012) Genetic Brain Disorders Treating Moyamoya Disease (Children's Hospital Boston, ... Carolina Urology Partners, Charlotte, NC, 7/01/2014) Genetics/Birth Defects Genetic Brain Disorders Treating Moyamoya Disease ( ...

Neurologic complications of cerebral angiography in childhood moyamoya syndrome

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Robertson, R.L.; Chavali, R.V.; Robson, C.D.; Barnes, P.D.; Burrows, P.E.; Eldredge, E.A.; Scott, R.M.

1998-01-01

Purpose. To determine the incidence of neurologic complications of cerebral angiography in children with moyamoya syndrome (MMS) as compared to children without MMS. Materials and methods. One-hundred-ninety consecutive cerebral angiograms obtained in 152 children were evaluated. Sixty of these angiograms were obtained in 40 children with MMS. Patients underwent neurologic evaluation prior to and after the procedure. For this study, a neurologic complication was defined as any new focal neurologic deficit or alteration in mental status occurring during the procedure or within the ensuing 24 hours. Results. There were 2 neurologic complications within 24 hours of angiography, one in the MMS group and one in the non-MMS group. One patient with MMS became mute following angiography. The symptom resolved within 12 hours. One patient without MMS being examined postoperatively for residual arteriovenous malformation developed intracranial hemorrhage requiring reexploration 12 hours after the angiogram. Using a two-tail Fisher's exact test, there was no significant statistical difference in the ischemic (P = 0.3) or hemorrhagic (P = 1.0) complication rates between the group of patients with MMS and the non-MMS groups. Conclusion. The risk of a neurologic complication from cerebral angiography in children with MMS is low and not statistically different from the risk in children with other cerebrovascular disorders. (orig.)

Perfusion MRI abnormalities in the absence of diffusion changes in a case of moyamoya-like syndrome in neurofibromatosis type 1

International Nuclear Information System (INIS)

El-Koussy, Marwan; Kiefer, Claus; Schroth, Gerhard; Loevblad, Karl-Olof; Steinlin, Maja

2002-01-01

We report on a 12-year-old boy with neurofibromatosis type 1 who suffered a transient ischemic attack. Angiography revealed occlusion of intracranial arteries, moyamoya vessels and leptomeningeal collaterals. The conventional T2-weighted and the diffusion-weighted MRI images demonstrated no pathology. Dynamic first-pass postgadolinium T2* perfusion-weighted MRI depicted altered hemodynamics in the vascular territory of the left middle cerebral artery, which defined this region as ischemic tissue at risk. The patient suffered a repeat transient ischemic attack5 days later. (orig.)

Thrombolytic therapy for the treatment of acute ischaemic stroke in adults with homozygous sickle cell disease.

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Majhadi, Loubna; Calvet, David; Rosso, Charlotte; Bartolucci, Pablo

2017-07-28

Stroke is a significant cause of morbidity and mortality in patients with homozygous sickle cell disease (SCD). A specific large-vessel vasculopathy is often responsible for both haemorrhagic and ischaemic strokes in patients with SCD. Although intravenous thrombolysis has been considered as a therapeutic option for acute ischaemic strokes in SCD, its use remains debated because of an increased risk of spontaneous intracranial haemorrhage reported in this disease. This risk of haemorrhage is mainly supported by the presence of a Moyamoya syndrome often associated with the specific vasculopathy in patients with homozygous SCD. We report two cases of patients with homozygous SCD treated with intravenous thrombolysis for an acute ischaemic stroke without haemorrhagic transformation. Our cases suggest that reperfusion strategy in acute ischaemic stroke in patients with homozygous SCD can be considered once associated Moyamoya syndrome has been ruled out. An international registry would be of interest as these situations are rare. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Neurologic complications of cerebral angiography in childhood moyamoya syndrome

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Robertson, R.L.; Chavali, R.V.; Robson, C.D.; Barnes, P.D.; Burrows, P.E. [Department of Radiology, Children`s Hospital Medical Center, Boston, MA (United States); Eldredge, E.A. [Department of Anesthesia, Children`s Hospital Medical Center and Harvard Medical School, Boston, MA (United States); Scott, R.M. [Department of Neurosurgery, Children`s Hospital Medical Center and Harvard Medical School, Boston, MA (United States)

1998-11-01

Purpose. To determine the incidence of neurologic complications of cerebral angiography in children with moyamoya syndrome (MMS) as compared to children without MMS. Materials and methods. One-hundred-ninety consecutive cerebral angiograms obtained in 152 children were evaluated. Sixty of these angiograms were obtained in 40 children with MMS. Patients underwent neurologic evaluation prior to and after the procedure. For this study, a neurologic complication was defined as any new focal neurologic deficit or alteration in mental status occurring during the procedure or within the ensuing 24 hours. Results. There were 2 neurologic complications within 24 hours of angiography, one in the MMS group and one in the non-MMS group. One patient with MMS became mute following angiography. The symptom resolved within 12 hours. One patient without MMS being examined postoperatively for residual arteriovenous malformation developed intracranial hemorrhage requiring reexploration 12 hours after the angiogram. Using a two-tail Fisher`s exact test, there was no significant statistical difference in the ischemic (P = 0.3) or hemorrhagic (P = 1.0) complication rates between the group of patients with MMS and the non-MMS groups. Conclusion. The risk of a neurologic complication from cerebral angiography in children with MMS is low and not statistically different from the risk in children with other cerebrovascular disorders. (orig.) With 8 tabs., 37 refs.

Ischemic stroke: carotid and vertebral artery disease

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Vilela, P.; Goulao, A. [Hospital Garcia de Orta, Servico de Neurorradiologia, Almada (Portugal)

2005-03-01

Ischemic strokes may have distinct aetiologies, including several different intrinsic arterial pathological disorders. The diagnosis and understanding of these arterial diseases is critical for the correct management of stroke as different treatment approaches are undertaken according to the aetiology. Atherosclerosis is by far the most common arterial disease among adults, and other pathological processes include arterial dissection, small vessel disease, inflammatory and non-inflammatory vasculopathy and vasomotor disorders. In children, there are several vasculopathies responsible for vaso-occlusive disease such as sickle-cell anemia, acute regressive angiopathy and Moya-Moya disease, neurofibromatosis, dissections, vasculitis associated with intracranial and systemic infections. An overview of the major carotid and vertebral pathological diseases responsible for ischemic stroke in adults and children, highlighting the accuracy of the different imaging modalities for its diagnosis and the imaging appearance of these diseases, is given. (orig.)

Ischemic stroke: carotid and vertebral artery disease

International Nuclear Information System (INIS)

Vilela, P.; Goulao, A.

2005-01-01

Ischemic strokes may have distinct aetiologies, including several different intrinsic arterial pathological disorders. The diagnosis and understanding of these arterial diseases is critical for the correct management of stroke as different treatment approaches are undertaken according to the aetiology. Atherosclerosis is by far the most common arterial disease among adults, and other pathological processes include arterial dissection, small vessel disease, inflammatory and non-inflammatory vasculopathy and vasomotor disorders. In children, there are several vasculopathies responsible for vaso-occlusive disease such as sickle-cell anemia, acute regressive angiopathy and Moya-Moya disease, neurofibromatosis, dissections, vasculitis associated with intracranial and systemic infections. An overview of the major carotid and vertebral pathological diseases responsible for ischemic stroke in adults and children, highlighting the accuracy of the different imaging modalities for its diagnosis and the imaging appearance of these diseases, is given. (orig.)

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

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Guey, Stéphanie; Kraemer, Markus; Hervé, Dominique; Ludwig, Thomas; Kossorotoff, Manoëlle; Bergametti, Françoise; Schwitalla, Jan Claudius; Choi, Simone; Broseus, Lucile; Callebaut, Isabelle; Genin, Emmanuelle; Tournier-Lasserve, Elisabeth

2017-08-01

Moyamoya angiopathy (MMA) is a cerebral angiopathy affecting the terminal part of internal carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a protein containing a RING-finger and two AAA+ domains. This variant has never been detected in Caucasian MMA patients, but several rare RNF213 variants have been reported in Caucasian cases. Using a collapsing test based on exome data from 68 European MMA probands and 573 ethnically matched controls, we showed a significant association between rare missense RNF213 variants and MMA in European patients (odds ratio (OR)=2.24, 95% confidence interval (CI)=(1.19-4.11), P=0.01). Variants specific to cases had higher pathogenicity predictive scores (median of 24.2 in cases versus 9.4 in controls, P=0.029) and preferentially clustered in a C-terminal hotspot encompassing the RING-finger domain of RNF213 (P<10 -3 ). This association was even stronger when restricting the analysis to childhood-onset and familial cases (OR=4.54, 95% CI=(1.80-11.34), P=1.1 × 10 -3 ). All clinically affected relatives who were genotyped were carriers. However, the need for additional factors to develop MMA is strongly suggested by the fact that only 25% of mutation carrier relatives were clinically affected.

Diamox-enhanced brain SPECT in cerebrovascular diseases

International Nuclear Information System (INIS)

Choi, Yun Young

2007-01-01

Acute event in cerebrovascular disease is the second most common cause of death in Korea following cancer, and it can also cause serious neurologic deficits. Understanding of perfusion status is important for clinical applications in management of patients with cerebrovascular diseases, and then the attacks of ischemic neurologic symptoms and the risk of acute events can be reduced. Therefore, the normal vascular anatomy of brain, various clinical applications of acetazolamide-enhanced brain perfusion SPECT, including meaning and role of assessment of vascular reserve in carotid stenosis before procedure, in pediatric Moyamoya disease before and after operation, in prediction of development of hyperperfusion syndrome before procedure, and in prediction of vasospasm and of prognosis in subarachnoid hemorrhage were reviewed in this paper

‘Smoke in the air’: a rare cerebrovascular cause of neurological signs and symptoms in a young adult

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Imtiaz Ismail

2015-06-01

Full Text Available Moyamoya disease is a rare neurological condition that affects children and adults of all ages. It is characterized by chronic, progressive stenosis of the circle of Willis that ultimately leads to the development of extensive collateral vessels. Presenting symptoms are usually due to cerebral ischemia or hemorrhage. The Japanese term moyamoya (meaning puffy or obscure was coined to describe the characteristic ‘smoke in the air’ appearance of these vessels on cerebral angiography. Moyamoya has the highest recorded incidence in Japan (0.28 per 100,000. In the west it is an extremely rare condition with an overall incidence of (0.086 per 100,000 in the Western United States. Etiology for the most part is unknown; however, genetic susceptibility related to RNF213 gene on chromosome 17q25.3 has been suggested. Moyamoya is being diagnosed more frequently in all races with varying clinical manifestations. Moyamoya disease is a rare progressive neurologic condition characterized by occlusion of the cerebral circulation with extensive collaterals recruitment in children and adults. Distinguished radiological findings confirm the diagnosis. Early recognition and swift institution of therapy is vital in order to minimize neurological deficits. We present the case of a 19-year-old African American female who presented with left-sided parastheia, weakness, and headache for 2 days duration.

Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.

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Sam, Christine; Li, Fei-Feng; Liu, Shu-Lin

2015-10-01

Neurovascular diseases are among the leading causes of mortality and permanent disability due to stroke, aneurysm, and other cardiovascular complications. Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and Marfan syndrome are two neurovascular disorders that affect smooth muscle cells through accumulation of granule and osmiophilic materials and defective elastic fiber formations respectively. Moyamoya disease, hereditary hemorrhagic telangiectasia (HHT), microcephalic osteodysplastic primordial dwarfism type II (MOPD II), and Fabry's disease are disorders that affect the endothelium cells of blood vessels through occlusion or abnormal development. While much research has been done on mapping out mutations in these diseases, the exact mechanisms are still largely unknown. This paper briefly introduces the pathogenesis, genetics, clinical symptoms, and current methods of treatment of the diseases in the hope that it can help us better understand the mechanism of these diseases and work on ways to develop better diagnosis and treatment.

Analysis of ischemic cerebral lesions using 3.0-T diffusion-weighted imaging and magnetic resonance angiography after revascularization surgery for ischemic disease.

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Murai, Yasuo; Mizunari, Takayuki; Takagi, Ryo; Amano, Yasuo; Mizumura, Sunao; Komaba, Yuichi; Okubo, Seiji; Kobayashi, Shiro; Teramoto, Akira

2013-07-01

Cerebral revascularization surgery (CRS) is increasingly recognized as an important component in the treatment of complex cerebral vascular disease and tumors. CRS requires that the incidence of perioperative neurological complications should be minimized, because CRS for ischemic disease is often not the goal of treatment, but rather a prophylactic surgery. CRS carries the risk of focal postoperative neurological deficits. Little has been established concerning mechanisms of post-CRS ischemia. We used 3.0-T diffusion-weighted magnetic resonance imaging (DWI) and magnetic resonance angiography (MRA) to analyze the incidence and mechanism of ischemic lesions. We studied the anterior circulation territory after 20 CRS procedures involving 33 vascular anastomosis procedures (13 double anastomoses and 7 single anastomoses) in 12 men and 8 women between June 2007 and October 2011. The operations included single or double superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis to treat internal carotid artery/MCA occlusions or severe MCA stenosis. A combined STA-MCA anastomosis and indirect bypass were performed for moyamoya disease. Postoperative DWI and MRA were obtained in all patients between 24 and 96 h after surgery to detect thromboembolism, hypoperfusion, or procedural ischemic complications and vasospasms of the donor STA. Follow-up DWI and MRA were carried out 1.8±0.6 days after CRS (range, 1-4 days). Temporary occlusion time for anastomoses averaged 18.9 min (range, 16-32 min). Asymptomatic new hyperintensities occurred in the ipsilateral hemisphere of 2 patients on postoperative DWI (10% patients/6.0% anastomoses), and 1 moyamoya patient (5.0% patients/3.0% anastomoses) developed a symptomatic hyperintensity in the ipsilateral occipital lobe in response to the operation. Two abnormal small (3.0-T DWI study of CRS and related clinical events. The incidence of symptomatic postoperative DWI abnormalities was restricted to 1 moyamoya patient

Disease: H01396 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available pha1beta1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. ... JOURNAL ... Am J Hum Genet 94:385-94 (2014) DOI:10.1016/j.ajhg.2014.01.018

MR angiography (MRA)

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Hasuo, Kanehiro [Kyushu Univ., Fukuoka (Japan). Faculty of Medicine

1995-12-01

The primary goal of vascular imaging is the visualization of morphology and hemodynamics. Catheter angiography has been regarded as a gold standard for this purpose. However, MR angiography (MRA) is now increasingly being recognized as an important noninvasive technique for the depiction of vascular diseases and is partially superseding catheter angiography. The author evaluated the usefulness of MRA in the diagnosis of cerebral aneurysms and moyamoya disease. All aneurysms 5 mm or larger in diameter could be detected and most of those less than 5 mm in diameter were also detectable with using a combination of MIP images, target MIP images and source images. In moyamoya disease, the diagnosis could be made in all. For hemodynamic changes, flow directions in the circle of Willis could be visualized by phase-contrast MRA in a normal volunteer. In addition, MRA successfully showed the patency of surgical collaterals in cases of moyamoya disease. Despite some limitations compared with catheter angiography, MRA has a high sensitivity and specificity in the diagnosis of cerebrovascular abnormalities. Furthermore, screening of cerebral aneurysms or cerebrovascular occlusive diseases seems to be a new, and important indication for MRA. (author).

Microsurgical Repair of Ruptured Aneurysms Associated with Moyamoya-Pattern Collateral Vessels of the Middle Cerebral Artery: A Report of Two Cases.

Science.gov (United States)

Lang, Min; Moore, Nina Z; Witek, Alex M; Kshettry, Varun R; Bain, Mark D

2017-09-01

Patients with Moyamoya or other intracranial steno-occlusive disease are at risk for developing aneurysms associated with flow through collateral vessels. Because these lesions are rare, the optimal management remains unclear. Here, we describe 2 cases of microsurgical repair of ruptured collateral vessel aneurysms associated with middle cerebral artery (MCA) occlusion. The first patient was a 61-year-old man who presented with right frontal and intraventricular hemorrhage. Angiography revealed chronic right M1 occlusion and a 3-mm spherical lenticulostriate aneurysm. The frontal lobe hematoma was evacuated to reveal the aneurysm, which was safely cauterized and resected by coagulating and dividing the lenticulostriate parent vessel. The procedure was carried out with neuronavigation guidance and intraoperative neuromonitoring. The patient was discharged with no neurologic deficits. The second patient was a 53-year-old woman who presented with subarachnoid and intracerebral hemorrhage. Computed tomography angiogram showed a 2-mm saccular MCA aneurysm. Emergency left decompressive hemicraniectomy and hematoma evacuation were performed. The aneurysm, arising from a small collateral type vessel, was safely clipped without complications. Postoperative angiography revealed absence of the superior MCA trunk with a dense network of collateral vessels at the site of the clipped aneurysm. The patient recovered well and was ambulating independently 6 months postoperatively. No rebleeding occurred in the 2 patients. Our experience suggests that patients with MCA occlusion can harbor associated aneurysms related to flow through collateral vessels and can present with hemorrhage. Microsurgical repair of these aneurysms can be performed safely to prevent rebleeding. Copyright © 2017 Elsevier Inc. All rights reserved.

Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients

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Hitomi, Toshiaki [Department of Health and Environmental Sciences, Kyoto University, Kyoto (Japan); Habu, Toshiyuki [Radiation Biology Center, Kyoto University, Kyoto (Japan); Kobayashi, Hatasu; Okuda, Hiroko; Harada, Kouji H. [Department of Health and Environmental Sciences, Kyoto University, Kyoto (Japan); Osafune, Kenji [Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto (Japan); Taura, Daisuke; Sone, Masakatsu [Department of Medicine and Clinical Science, Kyoto University, Kyoto (Japan); Asaka, Isao; Ameku, Tomonaga; Watanabe, Akira; Kasahara, Tomoko; Sudo, Tomomi; Shiota, Fumihiko [Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto (Japan); Hashikata, Hirokuni; Takagi, Yasushi [Department of Neurosurgery, Kyoto University,Kyoto (Japan); Morito, Daisuke [Faculty of Life Sciences, Kyoto Sangyo University, Kyoto (Japan); Miyamoto, Susumu [Department of Neurosurgery, Kyoto University,Kyoto (Japan); Nakao, Kazuwa [Department of Medicine and Clinical Science, Kyoto University, Kyoto (Japan); Koizumi, Akio, E-mail: koizumi.akio.5v@kyoto-u.ac.jp [Department of Health and Environmental Sciences, Kyoto University, Kyoto (Japan)

2013-08-16

Highlights: •Angiogenic activities were reduced in iPSECs from MMD patients. •Many mitosis-regulated genes were downregulated in iPSECs from MMD patients. •RNF213 R4810K downregulated Securin and inhibited angiogenic activity. •Securin suppression by siRNA reduced angiogenic activities of iPSECs and HUVECs. -- Abstract: Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The RNF213 R4810K polymorphism increases susceptibility to MMD. Induced pluripotent stem cells (iPSCs) were established from unaffected fibroblast donors with wild-type RNF213 alleles, and from carriers/patients with one or two RNF213 R4810K alleles. Angiogenic activities of iPSC-derived vascular endothelial cells (iPSECs) from patients and carriers were lower (49.0 ± 19.4%) than from wild-type subjects (p < 0.01). Gene expression profiles in iPSECs showed that Securin was down-regulated (p < 0.01) in carriers and patients. Overexpression of RNF213 R4810K downregulated Securin, inhibited angiogenic activity (36.0 ± 16.9%) and proliferation of humanumbilical vein endothelial cells (HUVECs) while overexpression of RNF213 wild type did not. Securin expression was downregulated using RNA interference techniques, which reduced the level of tube formation in iPSECs and HUVECs without inhibition of proliferation. RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is a promising in vitro model for MMD.

Diagnosis of cerebral disorders using computed tomography

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Kitamura, K [Tokyo Women' s Medical Coll. (Japan)

1980-01-01

Computed tomography (CT), which makes differential diagnosis of cerebral disorders possible, was applied in the diagnosis of hypertensive intracerebral hemorrhage, cerebral thrombosis, subarachnoid hemorrhage, and cerebrovascular Moyamoya disease. CT findings of hypertensive intracerebral hemorrhage showed the localization, volume, and direction of hematoma, and the classification of hematoma according to CT findings was highly correlated to the clinical symptoms of the patients. CT findings of cerebral thrombosis showed the extension of the lesion to be a low density area, but there were many cases in which they did not show a low density area immediately after an attack. CT findings of subarachnoid hemorrhage were very useful in the diagnosis of intracerebral hematoma, ventricular hematoma, and intracranial hematoma secondary to this disease. However, it was very difficult to diagnose cerebrovascular Moyamoya disease by means of CT.

Auditory Dysfunction in Patients with Cerebrovascular Disease

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Sadaharu Tabuchi

2014-01-01

Full Text Available Auditory dysfunction is a common clinical symptom that can induce profound effects on the quality of life of those affected. Cerebrovascular disease (CVD is the most prevalent neurological disorder today, but it has generally been considered a rare cause of auditory dysfunction. However, a substantial proportion of patients with stroke might have auditory dysfunction that has been underestimated due to difficulties with evaluation. The present study reviews relationships between auditory dysfunction and types of CVD including cerebral infarction, intracerebral hemorrhage, subarachnoid hemorrhage, cerebrovascular malformation, moyamoya disease, and superficial siderosis. Recent advances in the etiology, anatomy, and strategies to diagnose and treat these conditions are described. The numbers of patients with CVD accompanied by auditory dysfunction will increase as the population ages. Cerebrovascular diseases often include the auditory system, resulting in various types of auditory dysfunctions, such as unilateral or bilateral deafness, cortical deafness, pure word deafness, auditory agnosia, and auditory hallucinations, some of which are subtle and can only be detected by precise psychoacoustic and electrophysiological testing. The contribution of CVD to auditory dysfunction needs to be understood because CVD can be fatal if overlooked.

Diagnosis of cerebral disorders using computed tomography

International Nuclear Information System (INIS)

Kitamura, Koichi

1980-01-01

Computed tomography (CT), which makes differential diagnosis of cerebral disorders possible, was applied in the diagnosis of hypertensive intracerebral hemorrhage, cerebral thrombosis, subarachnoid hemorrhage, and cerebrovascular Moyamoya disease. CT findings of hypertensive intracerebral hemorrhage showed the localization, volume, and direction of hematoma, and the classification of hematoma according to CT findings was highly correlated to the clinical symptoms of the patients. CT findings of cerebral thrombosis showed the extension of the lesion to be a low density area, but there were many cases in which they did not show a low density area immediately after an attack. CT findings of subarachnoid hemorrhage were very useful in the diagnosis of intracerebral hematoma, ventricular hematoma, and intracranial hematoma secondary to this disease. However, it was very difficult to diagnose cerebrovascular Moyamoya disease by means of CT. (Nishio, M.)

Clinical application of dynamic digital subtraction angiography in cerebrovascular ischemic diseases

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Hirata, Yoshifumi; Nonaka, Nobuhito; Matsukado, Yasuhiko; Takahashi, Mutsumasa

1987-09-01

Dynamic intravenous digital subtraction angiography (IV-DSA) was performed in 37 patients with cerebrovascular ischemic diseases. The time density curve of IV-DSA was analysed, and peak time, mean transit time and mode of transit time were obtained in each patient. On the basis of these values, cerebral perfusion was classified into low, normal and high perfusion patterns. Normal perfusion pattern was noted in 40% of patients with transient ischemic attack (TIA) and 7 % of patients with cerebral infarction. Low perfusion pattern was observed in 60 % of patients with TIA and 87 % of patients with cerebral infarction. High perfusion pattern was encountered only in 7 % of patients with cerebral infarction. In ischemic patients with moyamoya disease, extremely prolonged cerebral circulation time was evidenced by the presence of a flat or uphill type of the time density curve. This finding well correlated with decreased cerebral blood flow on single photon emission tomography. These findings suggest that the analysis of dynamic DSA is very important and useful in the clinical evaluation of patients with cerebrovascular ischemic diseases.

CT perfusion assessment of Moyamoya syndrome before and after direct revascularization (superficial temporal artery to middle cerebral artery bypass)

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Chen, Yueqin [Hospital of Qingdao University, Department of Radiology, Qingdao (China); Hospital of Jining Medical College, CT Department, Jining (China); Xu, Wenjian [Hospital of Qingdao University, Department of Radiology, Qingdao (China); Guo, Xiang; Shi, Zhitao; Sun, Zhanguo; Wang, Jiehuan [Hospital of Jining Medical College, CT Department, Jining (China); Gao, Lingyun [Hospital of Jining Medical College, MR Department, Jining (China); Jin, Feng [Hospital of Jining Medical College, Department of Neurosurgery, Jining (China); Chen, Weijian; Yang, Yunjun [Hospital of Wenzhou Medical University, Department of Radiology, Wenzhou (China)

2016-01-15

To evaluate the utility of CT perfusion (CTP) for the assessment of superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis in patients with Moyamoya syndrome (MMS). Twenty-four consecutive MMS patients, who underwent unilateral STA-MCA bypass surgery, received CTP before and after surgery. The relative perfusion parameter values of surgical hemispheres before treatment were compared with post-treatment values. All patients underwent CT angiography (CTA) before and after surgery in order to confirm the patency of bypass. The follow-up CTA after surgery clearly demonstrated 20 (20/24, 83.3 %) bypass arteries, whereas four (16.7 %) bypass arteries were occluded or very small. Postoperative rMTT and rTTP values (P < 0.05) of the surgical side were significantly lower than pre-operation. In patients (n = 20) with bypass patency, postoperative rCBF, rMTT and rTTP values (P < 0.05) of the surgical side were significantly improved. However, the differences of all parameters were not significant (P > 0.05) in the patients (n = 4) without bypass patency after revascularization. This study demonstrates that CTP can provide a crucial quantitative assessment of cerebral haemodynamic changes in MMS before and after STA-MCA anastomosis. (orig.)

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

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Paolo Prontera

2017-09-01

Full Text Available Moyamoya angiopathy (MA is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735. Our patient also has a deleted FOXD3 of the FOX gene family of transcription factors, which plays an important role in neural crest cell growth and differentiation. As the murine FOXD3−/− model shows craniofacial anomalies and abnormal common carotid artery morphology, it can be hypothesised that FOXD3 is involved in the pathogenesis of the craniofacial and vascular defects observed in our patient. In support of our assumption, we found in the literature another patient with a syndromic form of MA who had a deletion involving another FOX gene (FOXC1. In addition to describing the clinical history of our patient, we have reviewed all of the available literature concerning other patients with a 1p32p31 deletion, including cases from the Decipher database, and we have also reviewed the genetic disorders associated with MA, which is a useful guide for the diagnosis of syndromic form of MA.

Comparação das avaliações neuropsicológicas em menina com doença cerebrovascular bilateral (moyamoya antes e após a intervenção cirúrgica

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CIASCA SYLVIA MARIA

1999-01-01

Full Text Available A doença de moyamoya é anormalidade cerebrovascular crônica e progressiva identificada através das características angiográficas; estão presentes no quadro clínico episódios isquêmicos transitórios, cefaléia, crises convulsivas, hemiparesia, que podem desaparecer após tratamento cirúrgico. Nós descrevemos o caso de uma menina com características clássicas da doença, comparando-o em dois momentos, antes e depois da cirurgia, através de avaliações neurológicas, neuropsicológicas, e exames complementares.

Cranial involvement in sickle cell disease

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Alkan, Ozlem, E-mail: yalinozlem@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Ebru, E-mail: ebru90@yahoo.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kizilkilic, Osman, E-mail: ebos90@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yildirim, Tulin, E-mail: ytulin@hotmail.com [Department of Radiology, Faculty of Medicine, Baskent University, Ankara (Turkey); Karaca, Sibel, E-mail: sibelkaraca@hotmail.com [Department of Neurology, Faculty of Medicine, Baskent University, Ankara (Turkey); Yeral, Mahmut, E-mail: mahmutyeral@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Kasar, Mutlu, E-mail: mutlukasar@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey); Ozdogu, Hakan, E-mail: hakanozdogu@hotmail.com [Department of Hematology, Faculty of Medicine, Baskent University, Ankara (Turkey)

2010-11-15

Purpose: To evaluate cranial findings in patients with neurologically symptomatic sickle cell disease (SCD). Materials and methods: We studied 50 consecutive patients with SCD and neurologic symptoms. All patients underwent brain MR examinations: all 50 underwent classic MR imaging; 42, diffusion-weighted MR imaging; 10, MR angiography; four, MR venography; and three patients, digital subtraction angiography. Results: Of the 50 SCD patients, 19 (38%) had normal MR findings, and 31 (62%) showed abnormalities on brain MR images. Of the 50 patients, 16 (32%) had ischemic lesions; two (4%), subarachnoid hemorrhage; one (2%), moya-moya pattern; one (2%), posterior reversible encephalopathy; one (2%), dural venous sinus thrombosis; 12 (24%), low marrow signal intensity and thickness of the diploic space; 12 (24%), cerebral atrophy; and two (4%), osteomyelitis. Twenty-seven patients (54%) presented with headache, which was the most common clinical finding. Conclusions: The cranial involvement is one of the most devastating complications of SCD. Early and accurate diagnosis is important in the management of cranial complications of SCD.

Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal.

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Perry, Luke D; Robertson, Fergus; Ganesan, Vijeya

2013-04-01

Microcephalic osteodysplastic primordial dwarfism type II (OMIM 210720) is a rare autosomal recessive condition frequently associated with early-onset cerebrovascular disease. Presymptomatic detection and intervention could prevent the adverse consequences associated with this. We reviewed published cases of microcephalic osteodysplastic primordial dwarfism type II to ascertain prevalence and characteristics of cerebrovascular disease and use these data to propose an evidence-based approach to cerebrovascular screening. Of 147 cases identified, 47 had cerebrovascular disease (32%), including occlusive arteriopathy (including moyamoya) and cerebral aneurysmal disease. Occlusive disease occurred in younger individuals, and progression can be both rapid and clinically silent. A reasonable screening approach would be magnetic resonance imaging and angiography of the cervical and intracranial circulation at diagnosis, repeated at yearly intervals until 10 years, and every 2 years thereafter, unless clinical concerns occur earlier. At present it would appear that this needs to be life-long. Families and professionals should be alerted to the potential significance of neurologic symptoms and measures should be taken to maintain good vascular health in affected individuals. Copyright © 2013 Elsevier Inc. All rights reserved.

Abnormal hyperintensity within the subarachnoid space evaluated by fluid-attenuated inversion-recovery MR imaging: a spectrum of central nervous system diseases

International Nuclear Information System (INIS)

Maeda, M.; Sakuma, H.; Takeda, K.; Yagishita, A.; Yamamoto, T.

2003-01-01

A variety of central nervous system (CNS) diseases are associated with abnormal hyperintensity within the subarachnoid space (SAS) by fluid-attenuated inversion-recovery (FLAIR) MR imaging. Careful attention to the SAS can provide additional useful information that may not be available with conventional MR sequences. The purpose of this article is to provide a pictorial essay about CNS diseases and FLAIR images with abnormal hyperintensity within the SAS. We present several CNS diseases including subarachnoid hemorrhage, meningitis, leptomeningeal metastases, acute infarction, and severe arterial occlusive diseases such as moya-moya disease. We also review miscellaneous diseases or normal conditions that may exhibit cerebrospinal fluid hyperintensity on FLAIR images. Although the detection of abnormal hyperintensity suggests the underlying CNS diseases and narrows differential diagnoses, FLAIR imaging sometimes presents artifactual hyperintensity within the SAS that can cause the misinterpretation of normal SAS as pathologic conditions; therefore, radiologists should be familiar with such artifactual conditions as well as pathologic conditions shown as hyperintensity by FLAIR images. This knowledge is helpful in establishing the correct diagnosis. (orig.)

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Endoport-Assisted Microsurgical Treatment of a Ruptured Periventricular Aneurysm

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Ching-Jen Chen

2016-01-01

Full Text Available Background and Importance. Ruptured periventricular aneurysms in patients with moyamoya disease represent challenging pathologies. The most common methods of treatment include endovascular embolization and microsurgical clipping. However, rare cases arise in which the location and anatomy of the aneurysm make these treatment modalities particularly challenging. Clinical Presentation. We report a case of a 34-year-old female with moyamoya disease who presented with intraventricular hemorrhage. CT angiography and digital subtraction angiography revealed an aneurysm located in the wall of the atrium of the right lateral ventricle. Distal endovascular access was not possible, and embolization risked the sacrifice of arteries supplying critical brain parenchyma. Using the BrainPath endoport system, the aneurysm was able to be accessed. Since the fusiform architecture of the aneurysm prevented clip placement, the aneurysm was ligated with electrocautery. Conclusion. We demonstrate the feasibility of endoport-assisted approach for minimally invasive access and treatment of uncommon, distally located aneurysms.

Author Details

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Smal, J. Vol 8, No 1 (2004) - Articles Large fibroadenoma mimicking malignancy. Abstract PDF · Vol 14, No 4 (2010) - Articles Acute pituitary apoplexy complicating a pituitary macroadenoma. Abstract PDF · Vol 17, No 3 (2013) - Articles Imaging of disease progression in a case of idiopathic moyamoya. Abstract PDF.

Genomewide association study identifies no major founder variant in ...

Indian Academy of Sciences (India)

2013-12-10

Dec 10, 2013 ... variant in Caucasian moyamoya disease ... 1Department of Health and Environmental Sciences, Kyoto University Graduate ... a low prevalence in European countries (Goto and Yonekawa. 1992; Kuroda and Houkin 2008). We have found that the p.R4810K variant in the ring finger protein 213 (RNF213).

Patent Foramen Ovale in Patients with Sickle Cell Disease and Stroke: Case Presentations and Review of the Literature

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Sheila Razdan

2013-01-01

Full Text Available Although individuals with sickle cell disease (SCD are at increased risk for stroke, the underlying pathophysiology is incompletely understood. Intracardiac shunting via a patent foramen ovale (PFO is associated with cryptogenic stroke in individuals without SCD. Recent evidence suggests that PFOs are associated with stroke in children with SCD, although the role of PFOs in adults with stroke and SCD is unknown. Here, we report 2 young adults with SCD, stroke, and PFOs. The first patient had hemoglobin SC and presented with a transient ischemic attack and a subsequent ischemic stroke. There was no evidence of cerebral vascular disease on imaging studies and the PFO was closed. The second patient had hemoglobin SS and two acute ischemic strokes. She had cerebral vascular disease with moyamoya in addition to a peripheral deep venous thrombosis (DVT. Chronic transfusion therapy was recommended, and the DVT was managed with warfarin. The PFO was not closed, and the patients' neurologic symptoms were stabilized. We review the literature on PFOs and stroke in SCD. Our cases and the literature review illustrate the dire need for further research to evaluate PFO as a potential risk factor for stroke in adults with SCD.

3D-CT angiography. Intracranial arterial lesions

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Asato, Mikio; Tong, X.Q.; Tamura, Shozo [Miyazaki Medical Coll., Kiyotake (Japan)] [and others

1997-06-01

Since its introduction, three dimensional CT angiography (3D-CTA) on spiral (helical) CT has played an important role in clinical imaging. Initially it was reported to be useful in depicting aortic abnormalities, afterwards the merit in detecting intracranial aneurysm by 3D-CTA was also described. We have investigated the usefullness of 3D-CTA in detecting patients of intracranial aneurysm as well as arterio-venous malformation (AVM), Moyamoya disease and stenosis of middle cerebral artery, meanwhile the MR angiography (MRA) and digital subtraction angiography (DSA) examination of these patients were also studied as comparison to the 3D-CTA results. The sensitivity and specificity on investigating intracranial aneurysm were similar with other reports so far. 3D-CTA was possible to identify the feeding artery, nidus and draining vein of AVM, although DSA showed higher detectability. Occlusion of internal carotid artery and post-operative anastomosis in Moyamoya disease were all demonstrated by 3D-CTA, however the Moyamoya collaterals were shown better on MRA. 3D-CTA revealed the site of stenosis of middle cerebral artery in all of our cases, but in general maximum intensity projection (MIP) images can provide more exact information about the degree of stenosis. Five years has passed since the emergence of spiral CT and utilizing of 3D-CTA in clinical applications. With the development of hard and soft ware in the near future, it is possible to delineate more small vessels by 3D-CTA. We predict that 3D-CTA would be widely used for detecting vasculature of the whole body, and may take the place of conventional angiography in many cases. (author)

Obstruction of cerebral arteries in childhood stroke

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Velkey, I.; Lombay, B.; Panczel, G.

1992-01-01

Middle cerebral artery obstruction in children is reviewed by our two cases. Ischemic childhood stroke was caused by moyamoya disease in the first, and by fibromuscular dysplasia in the second patient. In both cases transcranial Doppler sonography and cranial CT were performed, but the final diagnosis was made by angiography. The importance of angiography in childhood stroke is emphasized. (orig.)

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

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Bober, Michael B; Khan, Nadia; Kaplan, Jennifer; Lewis, Kristi; Feinstein, Jeffrey A; Scott, Charles I; Steinberg, Gary K

2010-04-01

Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder. Features include severe intrauterine growth retardation (IUGR), poor postnatal growth (adult stature approximately 100 cm), severe microcephaly, skeletal dysplasia, characteristic facial features, and normal or near normal intelligence. An Institutional Review Board (IRB) approved registry was created and currently follows 25 patients with a diagnosis of MOPD II. Based on previous studies, a neurovascular screening program was implemented and 13 (52%) of these patients have been found to have cerebral neurovascular abnormalities including moyamoya angiopathy and/or intracranial aneurysms. The typical moyamoya pathogenesis begins with vessel narrowing in the supraclinoid internal carotid artery, anterior cerebral (A1) or middle cerebral (M1) artery segments. The narrowing may predominate initially on one side, progresses to bilateral stenosis, with subsequent occlusion of the vessels and collateral formation. We present four patients who, on neurovascular screening, were found to have cerebrovascular changes. Two were asymptomatic, one presented with a severe headache and projectile vomiting related to a ruptured aneurysm, and one presented after an apparent decline in cognitive functioning. Analysis of the registry suggests screening for moyamoya disease be performed at the time of MOPD II diagnosis and at least every 12-18 months using MRA or computerized tomographic angiography (CTA). We believe this is imperative. If diagnosed early enough, re-vascularization and aneurysm treatment in skilled hands can be performed safely and prevent or minimize long-term sequelae in this population. Emergent evaluation is also needed when other neurologic or cardiac symptoms are present. (c) 2010 Wiley-Liss, Inc.

Imaging of disease progression in a case of idiopathic moyamoya ...

African Journals Online (AJOL)

Comparison is also made with conventional angiography at the last visit. Characteristic imaging appearances of asymmetric narrowing of the internal carotid arteries (especially the supraclinoid portion) with numerous collateral vessels around the brainstem, especially within the ambient and quadrigeminal plate cisterns, ...

Studies on intracranial collateral circulation with multi-slice CT angiography in patients with symptomatic cerebral artery stenosis

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Shu-qing ZHOU

2011-06-01

Full Text Available Objective To explore the features of intracranial collateral circulation in patients with symptomatic cerebral artery stenosis.Method Ninety-four patients with ischemic cerebrovascular disease admitted from Apr.2004 to Jun.2009 were involved in present study.All the patients were examined with cerebral multi-slice CT angiography,and the features of cerebral artery stenosis and intracranial collateral circulation were evaluated using maximum intensity projection(MIP and volume rendering(VR images of CT angiography.Result Of the 94 patients involved,48 were diagnosed as cerebral artery stenosis,including 29 cases of cerebral infarction,18 of transient ischemic attack(TIA and 1 of moyamoya disease(MMD.Among the 14 cases of severe cerebral artery stenosis or occlusion,cerebral infarction was found in 6 cases with lesser intracranial collateral vessels(including massive cerebral infarction in 4 cases and watershed infarction in 2 cases,and focal infarction of central semi-ovale in 1 case and TIA in 7 cases were found with abundant intracranial collateral vessels.Multiple lacunar infarction was found in 22 cases of mild or moderate cerebral artery stenosis,but there was no significant correlation between the stenosed arteries and infarction sites.Abundant intracranial collateral vessels were found in one patient with Moyamoya disease but no infarction was observed.Conclusions Intracranial collateral circulation plays an important role of compensation in patients with severe cerebral artery stenosis or occlusion.Cerebral angiography with multi-slice CT is of great significance in evaluation of cerebral artery stenosis and intracranial collateral circulation.

Multiparametric estimation of brain hemodynamics with MR fingerprinting ASL.

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Su, Pan; Mao, Deng; Liu, Peiying; Li, Yang; Pinho, Marco C; Welch, Babu G; Lu, Hanzhang

2017-11-01

Assessment of brain hemodynamics without exogenous contrast agents is of increasing importance in clinical applications. This study aims to develop an MR perfusion technique that can provide noncontrast and multiparametric estimation of hemodynamic markers. We devised an arterial spin labeling (ASL) method based on the principle of MR fingerprinting (MRF), referred to as MRF-ASL. By taking advantage of the rich information contained in MRF sequence, up to seven hemodynamic parameters can be estimated concomitantly. Feasibility demonstration, flip angle optimization, comparison with Look-Locker ASL, reproducibility test, sensitivity to hypercapnia challenge, and initial clinical application in an intracranial steno-occlusive process, Moyamoya disease, were performed to evaluate this technique. Magnetic resonance fingerprinting ASL provided estimation of up to seven parameters, including B1+, tissue T 1 , cerebral blood flow (CBF), tissue bolus arrival time (BAT), pass-through arterial BAT, pass-through blood volume, and pass-through blood travel time. Coefficients of variation of the estimated parameters ranged from 0.2 to 9.6%. Hypercapnia resulted in an increase in CBF by 57.7%, and a decrease in BAT by 13.7 and 24.8% in tissue and vessels, respectively. Patients with Moyamoya disease showed diminished CBF and lengthened BAT that could not be detected with regular ASL. Magnetic resonance fingerprinting ASL is a promising technique for noncontrast, multiparametric perfusion assessment. Magn Reson Med 78:1812-1823, 2017. © 2016 International Society for Magnetic Resonance in Medicine. © 2016 International Society for Magnetic Resonance in Medicine.

Novel techniques of real-time blood flow and functional mapping: technical note.

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Kamada, Kyousuke; Ogawa, Hiroshi; Saito, Masato; Tamura, Yukie; Anei, Ryogo; Kapeller, Christoph; Hayashi, Hideaki; Prueckl, Robert; Guger, Christoph

2014-01-01

There are two main approaches to intraoperative monitoring in neurosurgery. One approach is related to fluorescent phenomena and the other is related to oscillatory neuronal activity. We developed novel techniques to visualize blood flow (BF) conditions in real time, based on indocyanine green videography (ICG-VG) and the electrophysiological phenomenon of high gamma activity (HGA). We investigated the use of ICG-VG in four patients with moyamoya disease and two with arteriovenous malformation (AVM), and we investigated the use of real-time HGA mapping in four patients with brain tumors who underwent lesion resection with awake craniotomy. Real-time data processing of ICG-VG was based on perfusion imaging, which generated parameters including arrival time (AT), mean transit time (MTT), and BF of brain surface vessels. During awake craniotomy, we analyzed the frequency components of brain oscillation and performed real-time HGA mapping to identify functional areas. Processed results were projected on a wireless monitor linked to the operating microscope. After revascularization for moyamoya disease, AT and BF were significantly shortened and increased, respectively, suggesting hyperperfusion. Real-time fusion images on the wireless monitor provided anatomical, BF, and functional information simultaneously, and allowed the resection of AVMs under the microscope. Real-time HGA mapping during awake craniotomy rapidly indicated the eloquent areas of motor and language function and significantly shortened the operation time. These novel techniques, which we introduced might improve the reliability of intraoperative monitoring and enable the development of rational and objective surgical strategies.

Regional cerebral blood studies by the xenon-133 inhalation method in cases of cerebrovascular diseases

International Nuclear Information System (INIS)

Shimomura, Takahide

1982-01-01

rCBF was measured 428 times in 191 patients and 15 healthy volunteers by the Xenon-133 inhalation technique. The two-compartment analysis and the estimate of initial slope index were performed. There was no difference in blood flow between the two hemispheres in the 15 healthy volunteers, whose mean age was 36.5 +- 13.5 years (F 1 , right: 83.1 +- 11.4; left: 85.1 +- 12.1; 1Sl, right: 51.6 +- 6.3; left: 52.4 +- 6.0). Good correlation with a correlation coefficient of 0.965 was observed between the value obtained by the Xenon-133 inhalation and intracarotid methods in 14 patients with brain diseases. Reproducibilities of the Xenon-133 inhalation technique by serial measurement of rCBF at intervals of 30 - 40 minutes and 3 - 5 days were almost the same, with a variation coefficient of 3.7% and a correlation coefficient of 0.98. Repeated rCBF measurement by the Xenon-133 inhalation was performed during a long follow-up period of up to 1 year after bypass surgery. In 28 adult patients with occlusive cerebrovascular disease, CBF values of most patients stabilized in normal range within 3 months after the operation. In 12 patients with Moyamoya disease, CBF values were distributed over a wide range preoperatively, and increased gradually and tended to stabilize in the relatively subnormal range within 3 months after operation. This clinical experience indicates that the Xenon-133 inhalation method is a useful and safe procedure for the determination of rCBF, especially for repeated studies in cases with bypass surgery during long postoperative follow-up periods and for measurement of rCBF in child cases. (J.P.N.)

Cardiac diseases as a risk factor for stroke in Saudi children

International Nuclear Information System (INIS)

Salih, Mustafa A.; Al-Jarallah; Ahmed, A.; Kentab, Amal Y.; A-Jarallah, Abdullah S.; Al-Saadi, Muslim M.; Abdel-Gader, Abdel-Galil M.; Alorainy, Ibrahim A.; Hassan, Hamdy H.

2006-01-01

Objective was to ascertain the role of cardiac diseases as a risk factor for stroke in a cohort of Saudi children who were evaluated in a retrospective and prospective study. Children with cardiac diseases were identified from within a cohort of 104 Saudi children who presented with stroke. They were seen as inpatients in the Pediatric Wards or evaluated at the Outpatient Clinics of the Division of Pediatric Neurology (DPN), and the Division of Pediatric Cardiology at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). A comprehensive form for clinical, neuroimaging, neurophysiological and laboratory data retrieval was designed and completed for each patient. Cardiac evaluation included 12-lead ECG and serial echocardiograms. Cardiac catheterization and 24-hour ambulatory ECG (Holter) were conducted on clinical discretion. Cardiac diseases were the underlying risk factor for stroke in 6 (5.8%) of the 104 children (aged one month to 12 years). The patients (4males and 2 females) were evaluated at the DPN at a mean age of 5.3 years (range=1-8 years; median 6.5 years). Onset of stroke was at a mean age of 34 months (range= 4 months - 8 years; median = 30 months). Five patients had stroke in association with congenital heart disease (CHD), whereas the sixth had restrictive cardiomyopathy. The identified CHD consisted of membranous ventricular septal defect in a 5-year-old boy who had moyamoya syndrome and sickle cell b-thalassemia, asymptomatic patent ductus arteriosus (PDA) in a 17-months-old girl, atrioventricular canal defect and PDA in an 8-year-old boy who also had Down syndrome, partial anomalous pulmonary venous drainage in a one-year-old boy. The latter patient developed hemiparesis secondary to a septic embolus, which evolved into brain abscess involving the right fronto-preital region. This was successfully managed surgically

Causes and clinical characteristics of spontaneous intracerebral hemorrhage in children

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Yan-ju MENG

2014-01-01

Full Text Available In this study, clinical data of 31 patients in childhood with spontaneous intracerebral hemorrhage (SICH were retrospectively analyzed. According to various imaging examinations (CT, MRI, CTA, MRA and DSA, 22 cases (70.97% had definite causes, including 9 cases (29.03% with intracranial arteriovenous malformation, 6 cases (19.35% with cavernous hemangioma, 3 cases (9.68% with hematopathy, 2 cases (6.45% with tumor apoplexy, one case (3.23% with intracranial aneurysm and one case (3.23% with moyamoya disease; 9 cases (29.03% had unclear causes. All cases were timely diagnosed and treated. Among all the patients, 23 cases (74.19% were cured with good prognosis, 6 cases (19.35% improved, and the other 2 cases (6.45% died. Therefore, primary diseases should be timely treated as hematoma was removed.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.

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Brancati, Francesco; Castori, Marco; Mingarelli, Rita; Dallapiccola, Bruno

2005-12-15

We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. Brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right anterior cerebral artery and telangiectatic collateral vessels supplying the cerebral cortex, consistent with moyamoya disease. Based on clinical and skeletal features, a diagnosis of Majewski osteodysplastic primordial dwarfism type II (MOPD II) was established. Review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients. 2005 Wiley-Liss, Inc.

Scintigraphic detection of thrombi using indium-111-labeled autologous platelets

International Nuclear Information System (INIS)

Ikeoka, Kiyomitsu; Todo, Yasuhiro; Konishiike, Atsushi; Fujisue, Ryu; Ohyanagi, Mitsumasa; Yasutomi, Nagao; Tanimoto, Masaho; Kawai, Yoshitaka; Iwasaki, Tadaaki

1985-01-01

Intracardiac and arterial thrombi were examined by scintigraphy using In-111-oxine labeled autologous platelets. 1. In 22 cases of myocardial infarction including six with ventricular aneurysms, four had positive findings of thrombi on imaging and detected also by echocardiography. All four had ventricular aneurysms. The so-called ''moya-moya'' echoes (fuzzy echoes) were demonstrated in two of these four cases. 2. We encountered two cases with positive findings on imaging in 13 with mitral valve disease. These two had systemic embolic episodes after scintigraphic examination. ''Moya-moya'' echoes were detected in the left atrial cavity in four with negative findings on imaging. 3. Positive images were obtained in two of three with acute arterial occlusive disease, and in both cases platelet deposition was observed in the proximal site of obstruction. Though thrombectomy was performed for one of these two cases, no thrombus was detected at the site of platelet deposition. After one month, re-examination revealed only negative findings in all sites in both these patients. 4. In the six cases of aortic aneurysm, three had platelet deposition within their aneurysms, and surgery was performed for these positive cases, but one of them had no thrombus. 5. Positive images were obtained in only one of seven patients with chronic arterial occlusive disease. 6. Coagulation tests and platelet studies were investigated for patients with positive or negative platelet scans. Only the data of the thrombo-test showed a significant difference (97 +- 9 % vs 23 +- 7 %, p < 0.001). Three cases of positive imaging became negative after anticoagulant therapy. 7. We tried ECT for eight cases 24 hours after injection of In-111-oxine labeled platelets. Three cases showed clear images of thrombi, while the planar images could not detect them at an early stage. Therefore, we propose that ECT can be a useful technique for diagnosing intracardiac thrombi in early stage. (author)

Mapping of brain function with positron emission tomography for pathophysiological analysis of neurological disorders

International Nuclear Information System (INIS)

Nariai, Tadashi

2001-01-01

The role of PET is discussed mainly through author's clinical experience in patients with brain lesions from the view of mapping of brain function. Procedure for PET concept in clinical practice is summarized. PET using tracers like [ 15 O]water and [ 18 F]fluorodeoxyglucose for mapping of the function has been used in combination with MRI, MEG (magnetoencephalography), SPECT and other imaging means for morphological identification. Actual those images before and after surgery are presented in cases of epilepsy, moyamoya disease, stegnosis of cervical artery, arteriovenous malformation and oligodendroglioma. Images of [ 11 C]flumazenil in epilepsies are also presented to show the neurological dysfunctions. PET evaluation of neurological functions is concluded to become more important in parallel with the advancement of therapeutics. (K.H.)

Morning Glory Syndrome with Carotid and Middle Cerebral Artery Vasculopathy.

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Nezzar, Hachemi; Mbekeani, Joyce N; Dalens, Helen

2015-12-01

To report a case of incidental asymptomatic atypical morning glory syndrome (MGS) with concomitant ipsilateral carotid and middle cerebral dysgenesis. A 6-year-old child was discovered to have incidental findings of MGS, with atypia. All visual functions were normal including vision and stereopsis. Neuroimaging revealed ipsilateral carotid and middle cerebral vascular narrowing without associated collateral vessels or cerebral ischemia commonly seen in Moyamoya disease. Subsequent annual examinations have been stable, without signs of progression. This case demonstrates disparity between structural aberrations and final visual and neurological function and reinforces the association between MGS and intracranial vascular disruption. Full ancillary ophthalmic and neuroimaging studies should be performed in all patients with MGS with interval reassessments, even when the patient is asymptomatic and functionally intact.

Post-irradiation vasculopathy of intracranial major arteries in children; Report of two cases

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Nishizawa, Shigeru; Ryu, Hiroshi; Yokoyama, Tetsuo; Ninchoji, Toshiaki; Shimoyama, Ichiro; Yamamoto, Seiji; Uemura, Kenichi [Hamamatsu Univ. School of Medicine, Shizuoka (Japan)

1991-06-01

We report two rare cases of post-irradiation vasculopathy of intracranial major arteries in children. A 13-year-old girl suffered from transient right hemiparesis 1 year after irradiation for suprasellar germinoma. Left carotid angiograms revealed marked stenoses of the intracranial internal carotid, middle cerebral, and anterior cerebral arteries, which were previously normal, and moyamoya vessels. A 2.5-year-old girl underwent internal irradiation with {sup 198}Au colloid for cystic craniopharyngioma. At the age of 10 years, she suddenly became unconscious after vomiting. Computed tomographic scans showed a right frontal intracerebral hematoma. Right carotid angiograms disclosed complete obstruction of the intracranial internal carotid, middle cerebral, and anterior cerebral arteries and moyamoya vessels, previously not present. The danger of radiation therapy causing occlusive vasculopathy in small and major cerebral arteries in children is emphasized. To prevent permanent ischemic neurological deficits, vasculopathy should be treated either medically or surgically as early as possible. (author).

Regional cerebral blood flow in various pediatric neurological patients using 123I-IMP SPECT

International Nuclear Information System (INIS)

Konishi, Tohru; Naganuma, Yoshihiro; Hongou, Kazuhisa; Murakami, Miyako; Yamatani, Miwa; Okada, Toshio

1988-01-01

The recent development of a new radiopharmaceutical 123 I-isopropyl-iodoamphetamine (IMP), which is taken up by the brain from the blood flow, has offered a possibility of constructing scintigraphy maps of regional cerebral blood flow (rCBF) using single photon emission CT. We used this mehtod in various pediatric neurological diseases. Six patients with cerebro-vascular disorders (moya-moya disease 2, infarction 3 and HHE syndrome 1), 6 patients with infectious diseases of CNS (acute encephalitis 4, septic meningitis 1 and SSPE 1) and a miscellaneous group of six patients were studied. The rCBF abnormalities in cerebro-vascular diseases were more extensive and frequent than x-ray CT abnormalities. Repeated studies of IMP-SPECT revealed usefulness for the understanding of changeable hemodynamic pathophysiology and for the judgment of theraptic effectiveness and prognosis. The rCBF decrease in infectious diseases tended to be more diffuse and slight than that in cerebro-vascular diseases. In almost all patients, the area of rCBF decrease coincided with the area of EEG slowing evaluated by EEG topographic analysis. Brain imaging using 123 I-IMP SPECT may reveal functional abnormalities as well as organic lesions. 123 I-IMP SPECT has introduced a new era for the useful application of nuclear medicine to the investigation of pediatric neurological diseases. (author)

Regional cerebral blood flow in various pediatric neurological patients using /sup 123/I-IMP SPECT

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Konishi, Tohru; Naganuma, Yoshihiro; Hongou, Kazuhisa; Murakami, Miyako; Yamatani, Miwa; Okada, Toshio

1988-03-01

The recent development of a new radiopharmaceutical /sup 123/I-isopropyl-iodoamphetamine (IMP), which is taken up by the brain from the blood flow, has offered a possibility of constructing scintigraphy maps of regional cerebral blood flow (rCBF) using single photon emission CT. We used this mehtod in various pediatric neurological diseases. Six patients with cerebro-vascular disorders (moya-moya disease 2, infarction 3 and HHE syndrome 1), 6 patients with infectious diseases of CNS (acute encephalitis 4, septic meningitis 1 and SSPE 1) and a miscellaneous group of six patients were studied. The rCBF abnormalities in cerebro-vascular diseases were more extensive and frequent than x-ray CT abnormalities. Repeated studies of IMP-SPECT revealed usefulness for the understanding of changeable hemodynamic pathophysiology and for the judgment of theraptic effectiveness and prognosis. The rCBF decrease in infectious diseases tended to be more diffuse and slight than that in cerebro-vascular diseases. In almost all patients, the area of rCBF decrease coincided with the area of EEG slowing evaluated by EEG topographic analysis. Brain imaging using /sup 123/I-IMP SPECT may reveal functional abnormalities as well as organic lesions. /sup 123/I-IMP SPECT has introduced a new era for the useful application of nuclear medicine to the investigation of pediatric neurological diseases.

Craniopharyngioma in Children: Long-term Outcomes

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STEINBOK, Paul

2015-01-01

The survival rate for childhood craniopharyngioma has been improving, with more long-term survivors. Unfortunately it is rare for the patient to be normal, either from the disease itself or from the effects of treatment. Long-term survivors of childhood craniopharyngioma suffer a number of impairments, which include visual loss, endocrinopathy, hypothalamic dysfunction, cerebrovascular problems, neurologic and neurocognitive dysfunction. Pituitary insufficiency is present in almost 100%. Visual and hypothalamic dysfunction is common. There is a high risk of metabolic syndrome and increased risk of cerebrovascular disease, including stroke and Moyamoya syndrome. Cognitive, psychosocial, and emotional problems are prevalent. Finally, there is a higher risk of premature death among survivors of craniopharyngioma, and often this is not from tumor recurrence. It is important to consider craniopharyngioma as a chronic disease. There is no perfect treatment. The treatment has to be tailored to the individual patient to minimize dysfunction caused by tumor and treatments. So “cure” of the tumor does not mean a normal patient. The management of the patient and family needs multidisciplinary evaluation and should involve ophthalmology, endocrinology, neurosurgery, oncology, and psychology. Furthermore, it is also important to address emotional issues and social integration. PMID:26345668

Brain Embolism Secondary to Cardiac Myxoma in Fifteen Chinese Patients

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Youming Long

2014-01-01

Full Text Available Background. Heart myxoma-related embolisms commonly involve the central nervous system, but data are lacking in Chinese patients. Methods. 27 patients diagnosed with myxoma were reviewed retrospectively. Results. Among 27 patients, fourteen (51.9% patients were women. Fifteen (55.6% patients had brain embolisms. Rarely, patients were misdiagnosed with central nervous system vasculitis (n = 2, moyamoya disease (n = 1, and neuromyelitis optica (n = 1. We found positive associations between mRS (>3 and female gender (r = 0.873, P10 × 109/L (r = 0.722, P = 0.002, tumour size (r = 0.866, P0.05. Conclusions. Neurologic manifestations in Chinese patients with cardiac myxoma-related stroke were complicated and multifarious. Female gender, infection, other severe complications, low SBP, tumour size, bilateral brain lesions, TACI, and high WBC counts could be associated with a poor prognosis.

Pediatric renovascular hypertension in Thailand: CT angiographic findings

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Visrutaratna, Pannee; Srisuwan, Tanop; Sirivanichai, Chusak [Chiang Mai University, Department of Radiology, Faculty of Medicine, Chiang Mai (Thailand)

2009-12-15

Renovascular disease is an uncommon but important cause of hypertension in children. When unrecognized and untreated, renovascular hypertension in children can have serious complications. To review the causes of renovascular hypertension and computed tomography angiographic (CTA) findings in children and adolescents. Twenty-eight CTAs from January 2004 to March 2008 of 23 children and adolescents with hypertension were reviewed for the causes and CTA findings. Nine of the 23 children (39%) had abnormal renal arteries with or without abnormal abdominal aortas. Four of these children had Takayasu arteritis, one had moyamoya disease, and one had median arcuate ligament syndrome. One with chronic pyelonephritis had severe stenosis of the proximal right renal artery. The other two children had renal artery stenosis with a nonspecific cause. One child with a normal abdominal aorta and renal arteries had a right suprarenal mass. On pathological examination a ganglioneuroma was found. CTA can help in diagnosis of renovascular hypertension in children and adolescents. Although CTA is not a screening modality, it is appropriate in some situations. (orig.)

Pediatric renovascular hypertension in Thailand: CT angiographic findings

International Nuclear Information System (INIS)

Visrutaratna, Pannee; Srisuwan, Tanop; Sirivanichai, Chusak

2009-01-01

Renovascular disease is an uncommon but important cause of hypertension in children. When unrecognized and untreated, renovascular hypertension in children can have serious complications. To review the causes of renovascular hypertension and computed tomography angiographic (CTA) findings in children and adolescents. Twenty-eight CTAs from January 2004 to March 2008 of 23 children and adolescents with hypertension were reviewed for the causes and CTA findings. Nine of the 23 children (39%) had abnormal renal arteries with or without abnormal abdominal aortas. Four of these children had Takayasu arteritis, one had moyamoya disease, and one had median arcuate ligament syndrome. One with chronic pyelonephritis had severe stenosis of the proximal right renal artery. The other two children had renal artery stenosis with a nonspecific cause. One child with a normal abdominal aorta and renal arteries had a right suprarenal mass. On pathological examination a ganglioneuroma was found. CTA can help in diagnosis of renovascular hypertension in children and adolescents. Although CTA is not a screening modality, it is appropriate in some situations. (orig.)

Importance of Collateralization in Patients With Large Artery Intracranial Occlusive Disease: Long-Term Longitudinal Assessment of Cerebral Hemodynamic Function

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Larissa McKetton

2018-04-01

Full Text Available Patients with large artery intracranial occlusive disease (LAICOD are at risk for both acute ischemia and chronic hypoperfusion. Collateral circulation plays an important role in prognosis, and imaging plays an essential role in diagnosis, treatment planning, and prognosis of patients with LAICOD. In addition to standard structural imaging, assessment of cerebral hemodynamic function is important to determine the adequacy of collateral supply. Among the currently available methods of assessment of cerebral hemodynamic function, measurement of cerebrovascular reactivity (CVR using blood oxygen level-dependent (BOLD MRI and precisely controlled CO2 has shown to be a safe, reliable, reproducible, and clinically useful method for long-term assessment of patients. Here, we report a case of long-term follow-up in a 28-year-old Caucasian female presented to the neurology clinic with a history of TIAs and LAICOD of the right middle cerebral artery (MCA. Initial structural MRI showed a right MCA stenosis and a small right coronal radiate lacunar infarct. Her CVR study showed a large area of impaired CVR with a paradoxical decrease in BOLD signal with hypercapnia involving the right MCA territory indicating intracerebral steal. The patient was managed medically with anticoagulant and antiplatelet therapy and was followed-up for over 9 years with both structural and functional imaging. Cortical thickness (CT measures were longitudinally assessed from a region of interest that was applied to subsequent time points in the cortical region exhibiting steal physiology and in the same region of the contralateral healthy hemisphere. In the long-term follow-up, the patient exhibited improvement in her CVR as demonstrated by the development of collaterals with negligible changes to CT. Management of patients with LAICOD remains challenging since no revascularization strategies have shown efficacy except in patients with moyamoya disease. Management is well

Importance of Collateralization in Patients With Large Artery Intracranial Occlusive Disease: Long-Term Longitudinal Assessment of Cerebral Hemodynamic Function.

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McKetton, Larissa; Venkatraghavan, Lakshmikumar; Poublanc, Julien; Sobczyk, Olivia; Crawley, Adrian P; Rosen, Casey; Silver, Frank L; Duffin, James; Fisher, Joseph A; Mikulis, David J

2018-01-01

Patients with large artery intracranial occlusive disease (LAICOD) are at risk for both acute ischemia and chronic hypoperfusion. Collateral circulation plays an important role in prognosis, and imaging plays an essential role in diagnosis, treatment planning, and prognosis of patients with LAICOD. In addition to standard structural imaging, assessment of cerebral hemodynamic function is important to determine the adequacy of collateral supply. Among the currently available methods of assessment of cerebral hemodynamic function, measurement of cerebrovascular reactivity (CVR) using blood oxygen level-dependent (BOLD) MRI and precisely controlled CO 2 has shown to be a safe, reliable, reproducible, and clinically useful method for long-term assessment of patients. Here, we report a case of long-term follow-up in a 28-year-old Caucasian female presented to the neurology clinic with a history of TIAs and LAICOD of the right middle cerebral artery (MCA). Initial structural MRI showed a right MCA stenosis and a small right coronal radiate lacunar infarct. Her CVR study showed a large area of impaired CVR with a paradoxical decrease in BOLD signal with hypercapnia involving the right MCA territory indicating intracerebral steal. The patient was managed medically with anticoagulant and antiplatelet therapy and was followed-up for over 9 years with both structural and functional imaging. Cortical thickness (CT) measures were longitudinally assessed from a region of interest that was applied to subsequent time points in the cortical region exhibiting steal physiology and in the same region of the contralateral healthy hemisphere. In the long-term follow-up, the patient exhibited improvement in her CVR as demonstrated by the development of collaterals with negligible changes to CT. Management of patients with LAICOD remains challenging since no revascularization strategies have shown efficacy except in patients with moyamoya disease. Management is well defined for acute

The clinical significance of cerebral microbleed and its diagnostic criteria

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Imaizumi, Toshio

2007-01-01

Cerebral microbleed (CMB) on gradient-echo T 2 * -weighted MR imaging (T 2 * -w MR imaging) is associated with microangiopathy. Number of CMBs and new appeared CMBs are markers for stroke recurrence and the performance state. After CMB was reviewed in this manuscript, criterion for CMB is proposed as below. Only microbleed associated with microangiopathies related to primary intracerebral hemorrhage or lacunar infarction is diagnosed as CMB. A low intensity (round or oval shape, 2 * -w MR imaging defined as a CMB. Exception: Micro-bleedings associated with trauma (cerebral concussion), brain tumor, cavernous angioma, or moyamoya disease are excluded. Calcifications or vascular flow voids were excluded by CT or other MR imagings. Reference: CMB is rarely correlated to a focal neurological sign. CMB is associated with risk factors including hypertension, diabetes mellitus, or high age. CMB is very rare in patients less than 40 years old. (author)

Clinical importance of the middle meningeal artery: A review of the literature.

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Yu, Jinlu; Guo, Yunbao; Xu, Baofeng; Xu, Kan

2016-01-01

The middle meningeal artery (MMA) is a very important artery in neurosurgery. Many diseases, including dural arteriovenous fistula (DAVF), pseudoaneurysm, true aneurysm, traumatic arteriovenous fistula (AVF), moyamoya disease (MMD), recurrent chronic subdural hematoma (CSDH), migraine and meningioma, can involve the MMA. In these diseases, the lesions occur in either the MMA itself and treatment is necessary, or the MMA is used as the pathway to treat the lesions; therefore, the MMA is very important to the development and treatment of a variety of neurosurgical diseases. However, no systematic review describing the importance of MMA has been published. In this study, we used the PUBMED database to perform a review of the literature on the MMA to increase our understanding of its role in neurosurgery. After performing this review, we found that the MMA was commonly used to access DAVFs and meningiomas. Pseudoaneurysms and true aneurysms in the MMA can be effectively treated via endovascular or surgical removal. In MMD, the MMA plays a very important role in the development of collateral circulation and indirect revascularization. For recurrent CDSHs, after burr hole irrigation and drainage have failed, MMA embolization may be attempted. The MMA can also contribute to the occurrence and treatment of migraines. Because the ophthalmic artery can ectopically originate from the MMA, caution must be taken to avoid causing damage to the MMA during operations.

Clinical importance of the middle meningeal artery: A review of the literature

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Yu, Jinlu; Guo, Yunbao; Xu, Baofeng; Xu, Kan

2016-01-01

The middle meningeal artery (MMA) is a very important artery in neurosurgery. Many diseases, including dural arteriovenous fistula (DAVF), pseudoaneurysm, true aneurysm, traumatic arteriovenous fistula (AVF), moyamoya disease (MMD), recurrent chronic subdural hematoma (CSDH), migraine and meningioma, can involve the MMA. In these diseases, the lesions occur in either the MMA itself and treatment is necessary, or the MMA is used as the pathway to treat the lesions; therefore, the MMA is very important to the development and treatment of a variety of neurosurgical diseases. However, no systematic review describing the importance of MMA has been published. In this study, we used the PUBMED database to perform a review of the literature on the MMA to increase our understanding of its role in neurosurgery. After performing this review, we found that the MMA was commonly used to access DAVFs and meningiomas. Pseudoaneurysms and true aneurysms in the MMA can be effectively treated via endovascular or surgical removal. In MMD, the MMA plays a very important role in the development of collateral circulation and indirect revascularization. For recurrent CDSHs, after burr hole irrigation and drainage have failed, MMA embolization may be attempted. The MMA can also contribute to the occurrence and treatment of migraines. Because the ophthalmic artery can ectopically originate from the MMA, caution must be taken to avoid causing damage to the MMA during operations. PMID:27766029

A study of cerebral hemodynamics in various cerebrovascular disorders by means of rCBF measurement with single photon emission computed tomography

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Harano, Hideyuki

1987-01-01

Using single photon emission computed tomography (SPECT) with Xe-133 inhalation method, regional cerebral blood flow (rCBF) was measured for the purpose of analyzing the pathophysiology of various cerebrovascular disorders. Included in this series were 38 normal volunteers (N), 72 patients with ischemic cerebrovascular disease (ICD), 16 with subarachnoid hemorrhage (SAH), 9 with arteriovenous malformation (AVM), 6 with Moyamoya disease (MD), and 4 with hypertensive intracerebral hematoma (HIH). In the N group, rCBF was independent of sex and laterality. Increased rCBF was observed in the frontal region, as compared with other regions. A significantly increased rCBF was observed in the thirties decade of life; the difference in rCBF was, however, not statistically significant above the age of 30 years. In the ICD group, rCBF decreased in association with severer disorder. In cases of severe disorder, a significantly decreased rCBF was observed in the whole area, as compared with the control group. SPECT allowed early detection of decreased rCBF due to vaso-spasm in the SAH group. The groups of AVM, MD, and HIH showed decreased rCBF in the surrounding areas of the lesions. (Namekawa, K.)

Cryptogenic embolic stroke in a girl with a trisomy 21 mosaic.

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Stöllberger, Claudia; Weiss, Simone; Zlabinger, Gerhard; Finsterer, Josef

2012-06-01

Stroke in trisomy 21 may be due to cardioembolism, atherosclerosis, vasculitis, moyamoya disease, sinus venous thrombosis, internal carotid hypoplasia or infections like endocarditis with septic emboli, meningitis or brain abscess. In rare cases, however, stroke etiology remains unexplained. We present a 19 year old Caucasian girl with trisomy 21 with a 47XX+21 karyotype who suffered at age 11 years from a transient ischemic attack with left hemiparesis, and at age 17 years from an ischemic stroke in the territory of the right cerebral medial artery. She suffered from arterial hypertension, obesity and hypercholesterolemia. Since blood coagulation studies, immunologic parameters, blood cultures, 24-h Holter monitoring, transthoracic and transesophageal echocardiography, magnetic resonance angiography of the extra- and intracranial vessels, thoracic and abdominal aorta and renal arteries did not provide any explanation for the stroke, implantation of a loop recorder is considered in order to detect episodes of clinically silent atrial fibrillation.

Neuromuscular regulation in zebrafish by a large AAA+ ATPase/ubiquitin ligase, mysterin/RNF213

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Kotani, Yuri; Morito, Daisuke; Yamazaki, Satoru; Ogino, Kazutoyo; Kawakami, Koichi; Takashima, Seiji; Hirata, Hiromi; Nagata, Kazuhiro

2015-01-01

Mysterin (also known as RNF213) is a huge intracellular protein with two AAA+ ATPase modules and a RING finger ubiquitin ligase domain. Mysterin was originally isolated as a significant risk factor for the cryptogenic cerebrovascular disorder moyamoya disease, and was found to be involved in physiological angiogenesis in zebrafish. However, the function and the physiological significance of mysterin in other than blood vessels remain largely unknown, although mysterin is ubiquitously expressed in animal tissues. In this study, we performed antisense-mediated suppression of a mysterin orthologue in zebrafish larvae and revealed that mysterin-deficient larvae showed significant reduction in fast myofibrils and immature projection of primary motoneurons, leading to severe motor deficits. Fast muscle-specific restoration of mysterin expression cancelled these phenotypes, and interestingly both AAA+ ATPase and ubiquitin ligase activities of mysterin were indispensable for proper fast muscle formation, demonstrating an essential role of mysterin and its enzymatic activities in the neuromuscular regulation in zebrafish. PMID:26530008

Black blood MRI in suspected large artery primary angiitis of the central nervous system.

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Pfefferkorn, Thomas; Linn, Jennifer; Habs, Maximilian; Opherk, Christina; Cyran, Clemens; Ottomeyer, Caroline; Straube, Andreas; Dichgans, Martin; Nikolaou, Konstantin; Saam, Tobias

2013-07-01

Single case reports suggest that black blood MRI (T1-weighted fat and blood suppressed sequences with and without contrast injection; BB-MRI) may visualize intracranial vessel wall contrast enhancement (CE) in primary angiitis of the central nervous system (PACNS). In this single-center observational pilot study we prospectively investigated the value of BB-MRI in the diagnosis of large artery PACNS. Patients with suspected large artery PACNS received a standardized diagnostic program including BB-MRI. Vessel wall CE was graded (grade 0-2) by two experienced readers blinded to clinical data and correlated to the final diagnosis. Four of 12 included patients received a final diagnosis of PACNS. All of them showed moderate (grade 1) to strong (grade 2) vessel wall CE at the sites of stenosis. A moderate (grade 1) vessel wall CE grade was also observed in 6 of the remaining 8 patients in whom alternative diagnoses were made: arteriosclerotic disease (n = 4), intracranial dissection (n = 1), and Moyamoya disease (n = 1). Our pilot study demonstrates that vessel wall CE is a frequent finding in PACNS and its mimics. Larger trials will be necessary to evaluate the utility of BB-MRI in the diagnostic workup of PACNS. Copyright © 2012 by the American Society of Neuroimaging.

Dual energy CT intracranial angiography: image quality, radiation dose and initial application results

International Nuclear Information System (INIS)

Chai Xue; Zhang Longjiang; Lu Guangming; Zhou Changsheng

2009-01-01

Objective: To assess the clinical value of dual-energy intracranial CT angiography (CTA). Methods: Forty-one patients suspected of intracranial vascular diseases underwent dual-energy intracranial CT angiography, and 41 patients who underwent conventional subtraction CT were enrolled as the control group. Image quality of intracranial and skull base vessels and radiation dose between dual-energy CTA and conventional subtraction CTA were compared using two independent sample nonparametric test and independent-samples t test, respectively. Prevalence and size of lesions detected by dual-energy CTA and digital subtraction CTA were compared using paired-samples t test and Spearman correlative analysis. Results: The percentage of image quality scored 5 was 70.7% (29/41) for dual-energy CTA and 75.6% (31/41) for conventional subtraction CTA. There was no significant difference between the two groups (Z= -0.455, P=0.650). Image quality of vessels at the skull base in conventional subtraction CTA was superior to that in dual-energy CTA, especially for the petrosal and syphon segment (Z=-4.087, P=0.000). Radiation exposure of dual energy CTA and conventional CTA were (396.54±17.43) and (1090.95±114.29) mGy·cm respectively. Radiation exposure was decreased by 64% (t=-38.52, P=0.000) by dual energy CTA compared with conventional subtraction CTA. Out of the 41 patients, 19 patients were diagnosed as intracranial aneurysm, 2 patients as arteriovenous malformation (AVM), 3 patients with Moya-moya's disease, and the remaining 17 patients with negative results. Nine patients with intracranial aneurysm, 2 patients with AVM, 3 patients with Moya-moya's disease, and 2 patients with negative findings underwent DSA or operation, with concordant findings from both techniques. Diameter of aneurysm neck, long axis and minor axis by dual-energy CTA was (2.90±1.61), (5.23±1.68) and (3.83±1.69) mm, respectively; Diameter of aneurysm neck, long axis and minor axis by DSA was (2.95±1

Hemodynamic segmentation of brain perfusion images with delay and dispersion effects using an expectation-maximization algorithm.

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Chia-Feng Lu

Full Text Available Automatic identification of various perfusion compartments from dynamic susceptibility contrast magnetic resonance brain images can assist in clinical diagnosis and treatment of cerebrovascular diseases. The principle of segmentation methods was based on the clustering of bolus transit-time profiles to discern areas of different tissues. However, the cerebrovascular diseases may result in a delayed and dispersed local perfusion and therefore alter the hemodynamic signal profiles. Assessing the accuracy of the segmentation technique under delayed/dispersed circumstance is critical to accurately evaluate the severity of the vascular disease. In this study, we improved the segmentation method of expectation-maximization algorithm by using the results of hierarchical clustering on whitened perfusion data as initial parameters for a mixture of multivariate Gaussians model. In addition, Monte Carlo simulations were conducted to evaluate the performance of proposed method under different levels of delay, dispersion, and noise of signal profiles in tissue segmentation. The proposed method was used to classify brain tissue types using perfusion data from five normal participants, a patient with unilateral stenosis of the internal carotid artery, and a patient with moyamoya disease. Our results showed that the normal, delayed or dispersed hemodynamics can be well differentiated for patients, and therefore the local arterial input function for impaired tissues can be recognized to minimize the error when estimating the cerebral blood flow. Furthermore, the tissue in the risk of infarct and the tissue with or without the complementary blood supply from the communicating arteries can be identified.

Clinical importance of the anterior choroidal artery: a review of the literature.

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Yu, Jing; Xu, Ning; Zhao, Ying; Yu, Jinlu

2018-01-01

The anterior choroidal artery (AChA) is a critical artery in brain physiology and function. The AChA is involved in many diseases, including aneurysm, brain infarct, Moyamoya disease (MMD), brain tumor, arteriovenous malformation (AVM), etc. The AChA is vulnerable to damage during the treatment of these diseases and is thus a very important vessel. However, a comprehensive systematic review of the importance of the AChA is currently lacking. In this study, we used the PUBMED database to perform a literature review of the AChA to increase our understanding of its role in neurophysiology. Although the AChA is a small thin artery, it supplies an extremely important region of the brain. The AChA consists of cisternal and plexal segments, and the point of entry into the choroidal plexus is known as the plexal point. During treatment for aneurysms, tumors, AVM or AVF, the AChA cisternal segments should be preserved as a pathway to prevent the infarction of the AChA target region in the brain. In MMD, a dilated AChA provides collateral flow for posterior circulation. In brain infarcts, rapid treatment is necessary to prevent brain damage. In Parkinson disease (PD), the role of the AChA is unclear. In trauma, the AChA can tear and result in intracranial hematoma. In addition, both chronic and non-chronic branch vessel occlusions in the AChA are clinically silent and should not deter aneurysm treatment with flow diversion. Based on the data available, the AChA is a highly essential vessel.

Factores de riesgo de los ictus arteriales isquémicos en la infancia Risk factors of arterial ischemic strokes in children

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José Vargas Díaz

2008-09-01

Full Text Available Los ictus isquémicos infantiles pueden ocurrir en territorio arterial, la mayoría de ellos en la zona carotídea. Menos frecuentemente se presentan obstrucciones senovenosas, cuyo diagnóstico requiere adecuados índices de sospecha y técnicas de diagnóstico por la imagen capaces de detectarlas. Existen múltiples factores de riesgo genéticos y adquiridos relacionados con los ictus isquémicos. Las enfermedades cardíacas, los trastornos de la coagulación sanguínea, la anemia de células falciformes, las infecciones, el síndrome moyamoya, la disección arterial y otros trastornos genéticos infrecuentes, están entre los factores de riesgo más frecuentemente documentados. Las obstrucciones senovenosas parecen estar más relacionadas con infecciones de la cabeza o cuello, deshidratación, complicaciones perinatales y trastornos de la coagulación. Existe además la posibilidad de que varios de estos factores actúen al unísono en un paciente con ictus. La identificación y posible control de los factores de riesgo de los ictus infantiles son motivo de intensa investigación multicéntrica, en un intento de esclarecer la fisiopatogenia y verdadera relación causal de estos.Ischemic stroke in children may occur in the arterial area, most of them in the carotid zone. The sinovenous obstructions, whose diagnosis requires proper rates of suspicion and imaging diagnostic techniques capable of detecting them are less common. There are many genetic and acquired risk factors related to ischemic stroke. Cardiac diseases, blood coagulation disorders, sickle cell anemia, infections, moyamoya syndrome, arterial dissection, and other rare genetic disorders, are among the most frequent documented risk factors. Sinovenous obstructions seem to be connected with head or neck infections, dehydratation, perinatal complications, and coagulation disorders. There is also the possibility that many of these factors act at the same time on the patient with

Radiological strategy in acute stroke in children

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Paonessa, Amalia [Dept. of Neuroradiology, University Hospital ' S. Salvatore' , L' Aquila (Italy)], E-mail: apaonessa7@hotmail.com; Limbucci, Nicola [Dept. of Neuroradiology, University Hospital ' S. Salvatore' , L' Aquila (Italy); Tozzi, Elisabetta [Dept. of Pediatrics, University Hospital ' S. Salvatore' , L' Aquila (Italy); Splendiani, Alessandra; Gallucci, Massimo [Dept. of Neuroradiology, University Hospital ' S. Salvatore' , L' Aquila (Italy)

2010-04-15

The aim of the study was to estimate the preponderance of patterns of pediatric stroke, ischemic or hemorrhagic, their etiologies and the correct diagnostic protocol for acute management. Forty-one consecutive pediatric patients (age range 5-16 years) with an acute stroke observed in acute phase during a 10-year period, were retrospectively evaluated. Twenty-three patients underwent magnetic resonance imaging (MRI), 3 cases were studied by computed tomography (CT) without MRI, and 15 underwent both CT and MRI studies. In 9 cases, intra-arterial digital subtraction angiography (IADSA) was performed after non-invasive preliminary assessment. Seventeen hemorrhagic (41%) and 24 ischemic (59%) strokes were found. Among hemorrhagic forms, 5 cases were due to arteriovenous malformation (AVM), 7 to cavernoma, and 2 to aneurysm. Among ischemic forms, 2 were due to sickle-cell disease, 1 to hyperomocysteinemia, 1 to moyamoya syndrome, 1 to pseudoxantoma elasticum, 3 to prothrombotic state, 1 to Fabry's disease, 1 concomitant with CO intoxication, 5 to venous sinus thrombosis, and 4 to cardio-embolic state. Etiology remains unknown in 8 cases (20.5%). This study shows a moderate prevalence of ischemic over hemorrhagic strokes. Moreover, personal experience suggests that MRI is always more informative than CT and in selected cases should be the first-choice examination in the acute phase.

Anemia falciforme alterações angiográficas cerebrais

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J. O. Alarcon-Adorno

1991-03-01

Full Text Available São descritos dois casos de pacientes com anemia falciforme (AF que desenvolveram complicações neurológicas. Os estudos angiográficos mostraram alterações semelhantes àquelas encontradas na doença moyamoya. Estes achados ocorrem também em outras patologias e são resultado de mecanismo de compensação a oclusão das artérias da base do cérebro. São comentados os riscos e as precauções para a realização da angiografia cerebral.

The diagnostic value of 13N-ammonia PET in ischemic cerebrovascular disorders

International Nuclear Information System (INIS)

Qiao Shuixian; Tang Anwu; Wang Lijuan; Liu Xintong; Yuan Yanbo; Chen Liguang; Luo Yaowu; Zhang Xiangsong; Wang Shuxia; Liu Bin; Xu Weiping

2002-01-01

Objective: To evaluate the feasibility of 13 N-ammonia PET in diagnosing ischemic cerebrovascular disorders. Methods: A total of 25 subjects were investigated. Five healthy volunteers served as normal control. Twenty patients included 13 with transient ischemic attack (TIA), 6 with brain infarction and 1 with moyamoya disease. 740-925 MBq of 13 N-ammonia was injected intravenously, 3-5 min later, PET imaging was performed with T + E 2D acquisition with Siemens ECAT EXACT HR + PET scanner. Image analysis was done by visual and semiquantitative estimating. Standardized uptake value (SUV) was measured in mirror regions of cerebrum with autocopy methods. Nine patients underwent drug stress with oral acetazolamide (ACZ). Images were compared before and after oral ACZ intervention. Results: Physiological brain uptake with SUV ratio of 0.99 +- 0.15 (n=5, left/right) was observed in healthy volunteers. L/N 13 N-ammonia as radioactive tracer was a safe and noninvasive, sensitive and accurate functional imaging modality for brain perfusion. The oral ACZ stress is a safe, simple and reliable diagnostic method for ischemic cerebrovascular disorders. It is of important uses in detecting the potential reserve of cerebral blood flow

PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia.

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Banh, Robert S; Iorio, Caterina; Marcotte, Richard; Xu, Yang; Cojocari, Dan; Rahman, Anas Abdel; Pawling, Judy; Zhang, Wei; Sinha, Ankit; Rose, Christopher M; Isasa, Marta; Zhang, Shuang; Wu, Ronald; Virtanen, Carl; Hitomi, Toshiaki; Habu, Toshiyuki; Sidhu, Sachdev S; Koizumi, Akio; Wilkins, Sarah E; Kislinger, Thomas; Gygi, Steven P; Schofield, Christopher J; Dennis, James W; Wouters, Bradly G; Neel, Benjamin G

2016-07-01

Tumours exist in a hypoxic microenvironment and must limit excessive oxygen consumption. Hypoxia-inducible factor (HIF) controls mitochondrial oxygen consumption, but how/if tumours regulate non-mitochondrial oxygen consumption (NMOC) is unknown. Protein-tyrosine phosphatase-1B (PTP1B) is required for Her2/Neu-driven breast cancer (BC) in mice, although the underlying mechanism and human relevance remain unclear. We found that PTP1B-deficient HER2(+) xenografts have increased hypoxia, necrosis and impaired growth. In vitro, PTP1B deficiency sensitizes HER2(+) BC lines to hypoxia by increasing NMOC by α-KG-dependent dioxygenases (α-KGDDs). The moyamoya disease gene product RNF213, an E3 ligase, is negatively regulated by PTP1B in HER2(+) BC cells. RNF213 knockdown reverses the effects of PTP1B deficiency on α-KGDDs, NMOC and hypoxia-induced death of HER2(+) BC cells, and partially restores tumorigenicity. We conclude that PTP1B acts via RNF213 to suppress α-KGDD activity and NMOC. This PTP1B/RNF213/α-KGDD pathway is critical for survival of HER2(+) BC, and possibly other malignancies, in the hypoxic tumour microenvironment.

Doença oclusiva progressiva das artérias cerebrais associada a sindrome de Down: registro de um caso

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Israel Salmen Schulz

1980-06-01

Full Text Available Registro de um caso que pode ser o segundo na literatura mundial de associação de "moyamoya" com síndrome de Down, caracterizando-se pela permeabilidade das artérias carótidas internas, cerebrais médias e anteriores. O comprometimento da circulação distai poderia levantar a possibilidade de uma alteração da microcirculação capilar e, inclusive, da ação de alguma substância não determinada, fatores que poderiam explicar a localização e bilateralidade das lesões.

Moya - Moya syndrome: Diagnose by means of magnetic resonance

International Nuclear Information System (INIS)

Borrero Borrero, Leonidas; Henao Gomez, Liliana; Hernandez Castro, John Jairo

1997-01-01

We present a case of moya-moya syndrome diagnosed by means of study of magnetic resonance angiography (MRA) in an eight-year old patient with Seckel syndrome and progressive neurological deficit of several years, characterized by left hemi paresis and gait limitation as well as microcephalus. Previous imaging studies included cerebral CT (CCT) that showed several infarctions, without affecting a particular vascular territory. The MRA study was carried out in a 1.5 t system. Besides confirming the CCT findings, it demonstrated characteristic images of the moya - moya syndrome. This is the first case published in Colombia

Neurofibromatosis, stroke and basilar impression: case report Neurofibromatose, acidente vascular cerebral e impressão basilar: relato de caso

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ELCIO JULIATO PIOVESAN

1999-06-01

Full Text Available Neurofibromatosis type 1 (NF1 can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome. It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.A neurofibromatose tipo 1 (NF1 pode acometer qualquer órgão mas as apresentações mais frequente são manchas café com leite e neurofibromas. O envolvimento de vasos é complicação conhecida da NF1, mas a doença cerebrovascular é rara. Relatamos o caso de paciente do sexo masculino de 51 anos com história de acidente vascular cerebral há quatro meses da admissão. Ao exame físico apresentava várias manchas café com leite e neurofibromas cutâneos. O exame neurológico demonstrou acometimento facial direito, hemiplegia direita e afasia. Tomografia computadorizada de crânio mostrou áreas hipodensas nos gânglios basais e centros semi-ovais. Radiografias do crânio e coluna cervical

Tomographic analysis of CBF in cerebral infarction

International Nuclear Information System (INIS)

Segawa, Hiromu; Kimura, Kazumoto; Ueda, Yuichi; Nagai, Masakatsu; Yoshimasu, Norio.

1983-01-01

Cerebral perfusion was examined in various types of occlusive disease by computed tomographic CBF method. The method utilized has several advantages over conventional studies using isotope, providing high resolution images in a direct relation to CT anatomy. Ten representative cases were presented from 25 consective cases of occlusive disease studied by this method. The method included inhalation of 40 to 60% xenon with serial CT scanning for 25 min. K (build-up rate), lambda (partition coefficient) and CBF values were calculated from ΔHU for each pixel and ΔXe in expired air, based on Fick's principle, and displayed on CRT as K-, lambda- and CBF-map separately. CBF for gray matter of normal control was 82 +- 11 ml/100 gm/min and that for white matter was 24 +- 5 ml/100 gm/min. The ischemic threshold for gray matter appeared to be approximately 20 ml/100 gm/min, as blood flow in focus of complete infarction was below this level. Blood flow between 20 - 30 ml/ 100 gm/min caused some change on CT, such as localized atrophy, cortical thinning, loss of distinction between gray and white matter and decreased or increased density, which were considered to be compatible with pathological changes of laminar necrosis or gliosis with neuronal loss. In a case with occlusion of middle cerebral artery with subsequent recanalization, causing hemorrhagic infarct, hyperemia was observed in the infarcted cortex that was enhanced by iodine. Periventricular lucency observed in two cases, where blood flow was decreased below threshold, could be classified as ''watershed infarction'' mainly involving white matter. In moyamoya disease, blood flow in the anterior circulation was decreased near ischemic level, whereas that in basal ganglia and territory of posterior cerebral artery was fairly preserved, which was compatible with general angiographic finding of this disease. (author)

Some Important Diseases of Tree Fruits - Diseases of Vegetable Crops - Diseases of Grapes - Diseases of Tree Nuts.

Science.gov (United States)

Petersen, Donald H.; And Others

This agriculture extension service publication from Pennsylvania State University consists of four sections on plant disease recognition and control. The titles of these four sections are: (1) Some Important Diseases of Tree Fruits; (2) Diseases of Vegetable Crops; (3) Diseases of Crops; and (4) Diseases of Tree Nuts. The first section discusses…

Renal disease in patients with celiac disease.

Science.gov (United States)

Boonpheng, Boonphiphop; Cheungpasitporn, Wisit; Wijarnpreecha, Karn

2018-04-01

Celiac disease, an inflammatory disease of small bowel caused by sensitivity to dietary gluten and related protein, affects approximately 0.5-1% of the population in the Western world. Extra-intestinal symptoms and associated diseases are increasingly recognized including diabetes mellitus type 1, thyroid disease, dermatitis herpetiformis and ataxia. There have also been a number of reports of various types of renal involvement in patients with celiac disease including diabetes nephropathy, IgA nephropathy, membranous nephropathy, membranoproliferative glomerulonephritis, nephrotic syndrome related to malabsorption, oxalate nephropathy, and associations of celiac disease with chronic kidney disease and end-stage kidney disease. This review aims to present the current literature on possible pathologic mechanisms underlying renal disease in patients with celiac disease.

A Case of Turner Syndrome with Multiple Embolic Infarcts

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Cindy W. Yoon

2016-09-01

Full Text Available Only a few cases of Turner syndrome (TS with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.

Comparison of 3D magnetic resonance imaging and digital subtraction angiography for intracranial artery stenosis

Energy Technology Data Exchange (ETDEWEB)

Park, Ji Eun; Jung, Seung Chai; Kim, Ho Sung; Choi, Choong-Gon; Kim, Sang Joon; Lee, Deok Hee [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea, Republic of); Lee, Sang Hun; Kwon, Sun U.; Kang, Dong-Wha; Kim, Jong S. [University of Ulsan College of Medicine, Department of Neurology, Ulsan (Korea, Republic of); Jeon, Ji Young [Gachon University, Department of Radiology, Gil Medical Center, Incheon (Korea, Republic of); Lee, Ji Ye [Soonchunhyang University Bucheon Hospital, Department of Radiology, Bucheon (Korea, Republic of); Kim, Seon-Ok [University of Ulsan College of Medicine, Department of Clinical Epidemiology and Biostatistics, Asan Medical Center, Seoul (Korea, Republic of)

2017-11-15

To compare three-dimensional high-resolution magnetic resonance imaging (3D HR-MRI) and digital subtraction angiography (DSA) for diagnosing and evaluating stenosis in the entire circle of Willis. The study included 516 intracranial arteries from 43 patients with intracranial artery stenosis (ICAS) who underwent both 3D HR-MRI and DSA within 1 month. Two readers independently diagnosed atherosclerosis, dissection, moyamoya disease and vasculitis, rated their diagnostic confidence for each vessel and measured the luminal diameters. Reference standard was made from clinico-radiologic diagnosis. Diagnostic accuracy, diagnostic confidence, the degree of stenosis and luminal diameter were assessed and compared between both modalities. For atherosclerosis, 3D HR-MRI showed better diagnostic accuracy (P =.03-.003), sensitivity (P =.006-.01) and positive predictive value (P ≤.001-.006) compared to DSA. Overall, the readers were more confident of their diagnosis of ICAS when using 3D HR-MRI (reader 1, P ≤.001-.007; reader 2, P ≤.001-.015). 3D HR-MRI showed similar degree of stenosis (P >.05) and higher luminal diameter (P <.05) compared to DSA. 3D HR-MRI might be useful to evaluate atherosclerosis, with better diagnostic confidence and comparable stenosis measurement compared to DSA in the entire circle of Willis. (orig.)

[Periodontal disease in pediatric rheumatic diseases].

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Fabri, Gisele M C; Savioli, Cynthia; Siqueira, José T; Campos, Lucia M; Bonfá, Eloisa; Silva, Clovis A

2014-01-01

Gingivitis and periodontitis are immunoinflammatory periodontal diseases characterized by chronic localized infections usually associated with insidious inflammation This narrative review discusses periodontal diseases and mechanisms influencing the immune response and autoimmunity in pediatric rheumatic diseases (PRD), particularly juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (C-SLE) and juvenile dermatomyositis (JDM). Gingivitis was more frequently observed in these diseases compared to health controls, whereas periodontitis was a rare finding. In JIA patients, gingivitis and periodontitis were related to mechanical factors, chronic arthritis with functional disability, dysregulation of the immunoinflammatory response, diet and drugs, mainly corticosteroids and cyclosporine. In C-SLE, gingivitis was associated with longer disease period, high doses of corticosteroids, B-cell hyperactivation and immunoglobulin G elevation. There are scarce data on periodontal diseases in JDM population, and a unique gingival pattern, characterized by gingival erythema, capillary dilation and bush-loop formation, was observed in active patients. In conclusion, gingivitis was the most common periodontal disease in PRD. The observed association with disease activity reinforces the need for future studies to determine if resolution of this complication will influence disease course or severity. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

Screen-detected gallstone disease and cardiovascular disease

DEFF Research Database (Denmark)

Shabanzadeh, Daniel Mønsted; Skaaby, Tea; Sørensen, Lars Tue

2017-01-01

Knowledge about temporal associations for screen-detected gallstone disease and cardiovascular disease is limited. The objective of this study was to determine if screen-detected gallstones or cholecystectomy was associated with development of cardiovascular disease. A cohort study of three...... of cardiovascular disease through nationwide registers until December 2014. Multivariable Cox regression analyses were performed including traditional cardiovascular disease risk factors and apolipoprotein E genotype. Gallstone disease was identified in 10% (591/5928) of participants at baseline of whom 6.8% had...... gallstones and 3.2% had cholecystectomy. The study population was followed for a period of 32 years with only 1% lost to follow-up. Gallstone disease was associated with all cardiovascular disease (hazard ratio (HR) 1.36, 95% confidence interval (CI) [1.17;1.59]) and to the subgroups coronary artery (HR 1...

Lysosomal storage disease 2 - Pompe's disease

NARCIS (Netherlands)

van der Ploeg, Ans T.; Reuser, Arnold J. J.

2008-01-01

Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also

Farber's Disease

Science.gov (United States)

... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ...

Association between periodontal diseases and systemic diseases

Directory of Open Access Journals (Sweden)

Patrícia Weidlich

2008-08-01

Full Text Available Current evidence suggests that periodontal disease may be associated with systemic diseases. This paper reviewed the published data about the relationship between periodontal disease and cardiovascular diseases, adverse pregnancy outcomes, diabetes and respiratory diseases, focusing on studies conducted in the Brazilian population. Only a few studies were found in the literature focusing on Brazilians (3 concerning cardiovascular disease, 7 about pregnancy outcomes, 9 about diabetes and one regarding pneumonia. Although the majority of them observed an association between periodontitis and systemic conditions, a causal relationship still needs to be demonstrated. Further studies, particularly interventional well-designed investigations, with larger sample sizes, need to be conducted in Brazilian populations.

Link Between Celiac Disease and Inflammatory Bowel Disease.

Science.gov (United States)

Shah, Ayesha; Walker, Marjorie; Burger, Daniel; Martin, Neal; von Wulffen, Moritz; Koloski, Natasha; Jones, Mike; Talley, Nicholas J; Holtmann, Gerald J

2018-05-14

The aim of this analysis was to assess in patients with inflammatory bowel disease (IBD) the risk of celiac disease and in celiac disease patients the risk of IBD. Previous studies report a possible association between IBD and celiac disease; however, this link is controversial. Using the search terms "inflammatory bowel disease" and "celiac disease," we identified initially 1525 publications. In total 27 studies met inclusion criteria. Proportions and 95% confidence intervals (CIs) for the prevalence of IBD in celiac disease and vice versa were compared with published prevalence rates for the respective geographic regions. We included 41,482 adult IBD patients (20,357 with Crohn's disease; 19,791 with ulcerative colitis; and 459 patients with celiac disease). Overall, in IBD patients the prevalence of celiac disease was 1110/100,000 (95% CI, 1010-1210/100,000) as compared with a prevalence of 620/100,000 (95% CI, 610-630/100,000) in the respective populations (odds ratio, 2.23; 95% CI, 1.99-2.50). In contrast, in patients with celiac disease, 2130/100,000 had IBD (95% CI, 1590-2670/100,000) as compared with 260/100,000 (95% CI, 250/100,000-270/100,000) in the respective populations (odds ratio, 11.10; 95% CI, 8.55-14.40). This effect was not different for ulcerative colitis and Crohn's disease. Although there was no evidence for publication bias for celiac disease in IBD, the funnel plot suggested that the association between IBD in celiac disease might be influenced by publication bias. The data are consistent with the notion that celiac disease is a risk factor for IBD and to lesser degree patients with IBD have an increased risk of celiac disease.

[Autoimmune thyroid disease and other non-endocrine autoimmune diseases].

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Dilas, Ljiljana Todorović; Icin, Tijana; Paro, Jovanka Novaković; Bajkin, Ivana

2011-01-01

Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a single patient or in the same family. Numerous autoimmune diseases have been shown to coexist frequently with thyroid autoimmune diseases. AUTOIMMNUNE THYROID DISEASE AND OTHER ORGAN SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: This part of the study reviews the prevalence of autoimmune thyroid disease coexisting with: pernicious anaemia, vitiligo, celiac disease, autoimmune liver disease, miastenia gravis, alopecia areata and sclerosis multiplex, and several recommendations for screening have been given. AUTOIMMUNE THYROID DISEASE AND OTHER ORGAN NON-SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: Special attention is given to the correlation between autoimmune thyroid disease and rheumatoid arthritis, systemic lupus erythematosus, syndrome Sjögren, systemic sclerosis and mixed connective tissue disease. Screening for autoimmune thyroid diseases should be recommended in everyday clinical practice, in patients with primary organ-specific or organ non-specific autoimmune disease. Otherwise, in patients with primary thyroid autoimmune disease, there is no good reason of seeking for all other autoimmune diseases, although these patients have a greater risk of developing other autoimmune disease. Economic aspects of medicine require further analyzing of these data, from cost/benefit point of view to justified either mandatory screening or medical practitioner judgment.

Huntington's disease: a perplexing neurological disease ...

African Journals Online (AJOL)

Huntington's disease is an inherited intricate brain illness. It is a neurodegenerative, insidious disorder; the onset of the disease is very late to diagnose. It is caused by an expanded CAG repeat in the Huntingtin gene, which encodes an abnormally long polyglutamine repeat in the Huntingtin protein. Huntington's disease ...

Cerebral vasculopathy in children with sickle cell anemia.

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Fasano, Ross M; Meier, Emily R; Hulbert, Monica L

2015-01-01

Sickle cell anemia (SCA)-associated cerebral vasculopathy and moyamoya is a unique entity reflecting the abnormal interactions between sickled red blood cells (RBCs) and the cerebral arterial endothelium. Endothelial injury, coagulation activation, and the inflammatory response generated by sickled RBCs are implicated in the development of cerebral vasculopathy, but the pathophysiology remains incompletely understood. SCA-specific screening and treatment guidelines have successfully reduced the incidence of overt strokes in this high-risk population. However, despite aggressive hematological management, many children with cerebral vasculopathy due to SCA have progressive vasculopathy and recurrent strokes; therefore, more effective therapies, such as revascularization surgery and curative hematopoietic stem cell transplant, are urgently needed. Copyright © 2014 Elsevier Inc. All rights reserved.

Endocrine Diseases

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... Syndrome (PCOS) Pregnancy and Thyroid Disease Primary Hyperparathyroidism Prolactinoma Thyroid Tests Turner Syndrome Contact Us The National ... Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de la ...

Ribbing disease

International Nuclear Information System (INIS)

Mukkada, Philson J; Franklin, Teenu; Rajeswaran, Rangasami; Joseph, Santhosh

2010-01-01

Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc

Liposomes for Targeted Delivery of Active Agents against Neurodegenerative Diseases (Alzheimer's Disease and Parkinson's Disease

Directory of Open Access Journals (Sweden)

Carlos Spuch

2011-01-01

Full Text Available Neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease represent a huge unmet medical need. The prevalence of both diseases is increasing, but the efficacy of treatment is still very limited due to various factors including the blood brain barrier (BBB. Drug delivery to the brain remains the major challenge for the treatment of all neurodegenerative diseases because of the numerous protective barriers surrounding the central nervous system. New therapeutic drugs that cross the BBB are critically needed for treatment of many brain diseases. One of the significant factors on neurotherapeutics is the constraint of the blood brain barrier and the drug release kinetics that cause peripheral serious side effects. Contrary to common belief, neurodegenerative and neurological diseases may be multisystemic in nature, and this presents numerous difficulties for their potential treatment. Overall, the aim of this paper is to summarize the last findings and news related to liposome technology in the treatment of neurodegenerative diseases and demonstrate the potential of this technology for the development of novel therapeutics and the possible applications of liposomes in the two most widespread neurodegenerative diseases, Alzheimer's disease and Parkinson's disease.

Women's Heart Disease: Heart Disease Risk Factors

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... this page please turn JavaScript on. Feature: Women's Heart Disease Heart Disease Risk Factors Past Issues / Winter 2014 Table ... or habits may raise your risk for coronary heart disease (CHD). These conditions are known as risk ...

The Relationship Between Fatty Liver Disease and Periodontal Disease

Science.gov (United States)

2017-03-22

Periodontitis is a highly prevalent and destructive chronic disease. Numerous studies support an association between periodontal disease and other...destruction seen in periodontal disease. The association between the two diseases has never been investigated. A reasonable mechanism in which periodontal ...disease may play a role in the destruction seen in NAFLD is the remote site infection of periodontal disease. Chewing and oral hygiene measures lead to

Nonalcoholic fatty liver disease - A multisystem disease?

Science.gov (United States)

Mikolasevic, Ivana; Milic, Sandra; Turk Wensveen, Tamara; Grgic, Ivana; Jakopcic, Ivan; Stimac, Davor; Wensveen, Felix; Orlic, Lidija

2016-01-01

Non-alcoholic fatty liver disease (NAFLD) is one of the most common comorbidities associated with overweight and metabolic syndrome (MetS). Importantly, NAFLD is one of its most dangerous complications because it can lead to severe liver pathologies, including fibrosis, cirrhosis and hepatic cellular carcinoma. Given the increasing worldwide prevalence of obesity, NAFLD has become the most common cause of chronic liver disease and therefore is a major global health problem. Currently, NAFLD is predominantly regarded as a hepatic manifestation of MetS. However, accumulating evidence indicates that the effects of NAFLD extend beyond the liver and are negatively associated with a range of chronic diseases, most notably cardiovascular disease (CVD), diabetes mellitus type 2 (T2DM) and chronic kidney disease (CKD). It is becoming increasingly clear that these diseases are the result of the same underlying pathophysiological processes associated with MetS, such as insulin resistance, chronic systemic inflammation and dyslipidemia. As a result, they have been shown to be independent reciprocal risk factors. In addition, recent data have shown that NAFLD actively contributes to aggravation of the pathophysiology of CVD, T2DM, and CKD, as well as several other pathologies. Thus, NAFLD is a direct cause of many chronic diseases associated with MetS, and better detection and treatment of fatty liver disease is therefore urgently needed. As non-invasive screening methods for liver disease become increasingly available, detection and treatment of NAFLD in patients with MetS should therefore be considered by both (sub-) specialists and primary care physicians. PMID:27920470

Cardiovascular diseases

International Nuclear Information System (INIS)

Kodama, Kazunori

1992-01-01

This paper is aimed to discuss the involvement of delayed radiation effects of A-bomb exposure in cardiovascular diseases. First, the relationship between radiation and cardiovascular diseases is reviewed in the literature. Animal experiments have confirmed the relationship between ionizing radiation and vascular lesions. There are many reports which describe ischemic heart disease, cervical and cerebrovascular diseases, and peripheral disease occurring after radiation therapy. The previous A-bomb survivor cohort studies, i.e., the RERF Life Span Study and Adult Health Study, have dealt with the mortality rate from cardiovascular diseases, the prevalence or incidence of cardiovascular diseases, pathological findings, clinical observation of arteriosclerosis, ECG abnormality, blood pressure abnormality, and cardiac function. The following findings have been suggested: (1) A-bomb exposure is likely to be involved in the mortality rate and incidence of ischemic heart disease and cerebrovascular diseases; (2) similarly, the involvement of A-bomb exposure is considered in the prevalence of the arch of aorta; (3) ECG abnormality corresponding to ischemic heart disease may reflect the involvement of A-bomb exposure. To confirm the above findings, further studies are required on the basis of more accurate information and the appropriate number of cohort samples. Little evidence has been presented for the correlation between A-bomb exposure and both rheumatic heart disease and congenital heart disease. (N.K.) 88 refs

Perianal disease, small bowel disease, smoking, prior steroid or early azathioprine/biological therapy are predictors of disease behavior change in patients with Crohn's disease.

Science.gov (United States)

Lakatos, Peter Laszlo; Czegledi, Zsofia; Szamosi, Tamas; Banai, Janos; David, Gyula; Zsigmond, Ferenc; Pandur, Tunde; Erdelyi, Zsuzsanna; Gemela, Orsolya; Papp, Janos; Lakatos, Laszlo

2009-07-28

To assess the combined effect of disease phenotype, smoking and medical therapy [steroid, azathioprine (AZA), AZA/biological therapy] on the probability of disease behavior change in a Caucasian cohort of patients with Crohn's disease (CD). Three hundred and forty well-characterized, unrelated, consecutive CD patients were analyzed (M/F: 155/185, duration: 9.4 +/- 7.5 years) with a complete clinical follow-up. Medical records including disease phenotype according to the Montreal classification, extraintestinal manifestations, use of medications and surgical events were analyzed retrospectively. Patients were interviewed on their smoking habits at the time of diagnosis and during the regular follow-up visits. A change in disease behavior was observed in 30.8% of patients with an initially non-stricturing, non-penetrating disease behavior after a mean disease duration of 9.0 +/- 7.2 years. In a logistic regression analysis corrected for disease duration, perianal disease, smoking, steroid use, early AZA or AZA/biological therapy use were independent predictors of disease behavior change. In a subsequent Kaplan-Meier survival analysis and a proportional Cox regression analysis, disease location (P = 0.001), presence of perianal disease (P < 0.001), prior steroid use (P = 0.006), early AZA (P = 0.005) or AZA/biological therapy (P = 0.002), or smoking (P = 0.032) were independent predictors of disease behavior change. Our data suggest that perianal disease, small bowel disease, smoking, prior steroid use, early AZA or AZA/biological therapy are all predictors of disease behavior change in CD patients.

Celiac disease and new diseases related to gluten

Science.gov (United States)

Jiménez Ortega, Ana Isabel; Martínez García, Rosa María; Quiles Blanco, María José; Majid Abu Naji, Jamil Abdel; González Iglesias, María José

2016-07-12

Celiac disease is the most common chronic intestinal disease. Nowadays it´s known that this is a multisistemic pathology of immune mechanism, triggered by gluten, which occurs in genetically susceptible individuals. It affects approximately 1% of the world population, which is a very high prevalence, affects all age groups and has symptoms both digestive and extra-digestive. Since it is a disease that requires maintaining a gluten-free diet and medical monitoring for life, it is important to know it and establish its diagnosis properly. Along with celiac disease a number of new diseases related to gluten are diagnosed increasingly, including the non celiac gluten sensitivity or wheat allergy. The suffering of celiac disease, or other related diseases, by conditioning diet changes of the affected individual, it may be associated with nutritional imbalances that need to monitor and try to solve. Therefore patients with this problem need special nutritional advice.

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

Directory of Open Access Journals (Sweden)

Eva Müller

Full Text Available Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones. Here we report on a patient born small for gestational age (SGA with severe, proportionate postnatal growth retardation, discreet signs of skeletal dysplasia, microcephaly and moyamoya disease. Initial genetic evaluation revealed a novel heterozygous IGF1R p.Leu1361Arg mutation affecting a highly conserved residue with the insulin-like growth factor type 1 receptor suggestive for a disturbance within the somatotropic axis. However, because the mutation did not co-segregate with the phenotype and functional characterization did not reveal an obvious impairment of the ligand depending major IGF1R signaling capabilities a second-site mutation was assumed. Mutational screening of components of the somatotropic axis, constituents of the IGF signaling system and factors involved in cellular proliferation, which are described or suggested to provoke syndromic dwarfism phenotypes, was performed. Two compound heterozygous PCNT mutations (p.[Arg585X];[Glu1774X] were identified leading to the specification of the diagnosis to MOPD II. These investigations underline the need for careful assessment of all available information to derive a firm diagnosis from a sequence aberration.

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.

Science.gov (United States)

Müller, Eva; Dunstheimer, Desiree; Klammt, Jürgen; Friebe, Daniela; Kiess, Wieland; Kratzsch, Jürgen; Kruis, Tassilo; Laue, Sandy; Pfäffle, Roland; Wallborn, Tillmann; Heidemann, Peter H

2012-01-01

Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones. Here we report on a patient born small for gestational age (SGA) with severe, proportionate postnatal growth retardation, discreet signs of skeletal dysplasia, microcephaly and moyamoya disease. Initial genetic evaluation revealed a novel heterozygous IGF1R p.Leu1361Arg mutation affecting a highly conserved residue with the insulin-like growth factor type 1 receptor suggestive for a disturbance within the somatotropic axis. However, because the mutation did not co-segregate with the phenotype and functional characterization did not reveal an obvious impairment of the ligand depending major IGF1R signaling capabilities a second-site mutation was assumed. Mutational screening of components of the somatotropic axis, constituents of the IGF signaling system and factors involved in cellular proliferation, which are described or suggested to provoke syndromic dwarfism phenotypes, was performed. Two compound heterozygous PCNT mutations (p.[Arg585X];[Glu1774X]) were identified leading to the specification of the diagnosis to MOPD II. These investigations underline the need for careful assessment of all available information to derive a firm diagnosis from a sequence aberration.

Refractory disease in autoimmune diseases

NARCIS (Netherlands)

Vasconcelos, Carlos; Kallenberg, Cees; Shoenfeld, Yehuda

Refractory disease (RD) definition has different meanings but it is dynamic, according to knowledge and the availability of new drugs. It should be differentiated from severe disease and damage definitions and it must take into account duration of adequate therapy and compliance of the patient. It

Thyroid diseases and cerebrovascular disease

NARCIS (Netherlands)

Squizzato, A.; Gerdes, V. E. A.; Brandjes, D. P. M.; Büller, H. R.; Stam, J.

2005-01-01

Background and Purpose-Acute cerebral ischemia has been described in different diseases of the thyroid gland, and not only as a result of thyrotoxic atrial fibrillation and cardioembolic stroke. The purpose of this review is to summarize the studies on the relationship between thyroid diseases and

A disease state fingerprint for evaluation of Alzheimer's disease

DEFF Research Database (Denmark)

Mattila, Jussi; Koikkalainen, Juha; Virkki, Arho

2011-01-01

Diagnostic processes of Alzheimer's disease (AD) are evolving. Knowledge about disease-specific biomarkers is constantly increasing and larger volumes of data are being measured from patients. To gain additional benefits from the collected data, a novel statistical modeling and data visualization...... interpretation of the information. To model the AD state from complex and heterogeneous patient data, a statistical Disease State Index (DSI) method underlying the DSF has been developed. Using baseline data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), the ability of the DSI to model disease......'s degree of similarity to previously diagnosed disease population. A summary of patient data and results of the computation are displayed in a succinct Disease State Fingerprint (DSF) visualization. The visualization clearly discloses how patient data contributes to the AD state, facilitating rapid...

Dermatological diseases in patients with chronic kidney disease.

Science.gov (United States)

Gagnon1, Amy L; Desai, Tejas

2013-04-01

There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Some cutaneous diseases are clearly unique to this population. Of them, Lindsay's Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions.

Addison's Disease

Science.gov (United States)

... of potassium and low levels of sodium. What causes Addison’s disease? Addison’s disease is caused by injury to your ... example, a problem with your pituitary gland can cause secondary Addison’s disease. Or, you may develop Addison’s disease if you ...

Heart Diseases

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... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the ... of disability. There are many different forms of heart disease. The most common cause of heart disease ...

Estrogen-related and other disease diagnoses preceding Parkinson's disease

DEFF Research Database (Denmark)

Latourelle, Jeanne C; Dybdal, Merete; Destefano, Anita L

2010-01-01

Estrogen exposure has been associated with the occurrence of Parkinson's disease (PD), as well as many other disorders, and yet the mechanisms underlying these relations are often unknown. While it is likely that estrogen exposure modifies the risk of various diseases through many different...... mechanisms, some estrogen-related disease processes might work in similar manners and result in association between the diseases. Indeed, the association between diseases need not be due only to estrogen-related factors, but due to similar disease processes from a variety of mechanisms....

Graves' Disease

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... 2011 survey of clinical practice patterns in the management of Graves' disease. Journal of Clinical Endocrinology and Metabolism. 2012 Dec;97( ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

Gastroesophageal Reflux Disease in Children with Interstitial Lung Disease.

Science.gov (United States)

Dziekiewicz, M A; Karolewska-Bochenek, K; Dembiński, Ł; Gawronska, A; Krenke, K; Lange, J; Banasiuk, M; Kuchar, E; Kulus, M; Albrecht, P; Banaszkiewicz, A

2016-01-01

Gastroesophageal reflux disease is common in adult patients with interstitial lung disease. However, no data currently exist regarding the prevalence and characteristics of the disease in pediatric patients with interstitial lung disease. The aim of the present study was to prospectively assess the incidence of gastroesophageal reflux disease and characterize its features in children with interstitial lung disease. Gastroesophageal reflux disease was established based on 24 h pH-impedance monitoring (MII-pH). Gastroesophageal reflux episodes (GERs) were classified according to widely recognized criteria as acid, weakly acid, weakly alkaline, or proximal. Eighteen consecutive patients (15 boys, aged 0.2-11.6 years) were enrolled in the study. Gastroesophageal reflux disease was diagnosed in a half (9/18) of children. A thousand GERs were detected by MII-pH (median 53.5; IQR 39.0-75.5). Of these, 585 (58.5 %) episodes were acidic, 407 (40.7 %) were weakly acidic, and eight (0.8 %) were weakly alkaline. There were 637 (63.7 %) proximal GERs. The patients in whom gastroesophageal reflux disease was diagnosed had a significantly higher number of proximal and total GERs. We conclude that the prevalence of gastroesophageal reflux disease in children with interstitial lung disease is high; thus, the disease should be considered regardless of presenting clinical symptoms. A high frequency of non-acid and proximal GERs makes the MII-pH method a preferable choice for the detection of reflux episodes in this patient population.

Disease-modifying drugs in Alzheimer's disease

Directory of Open Access Journals (Sweden)

Ghezzi L

2013-12-01

Full Text Available Laura Ghezzi, Elio Scarpini, Daniela Galimberti Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Abstract: Alzheimer's disease (AD is an age-dependent neurodegenerative disorder and the most common cause of dementia. The early stages of AD are characterized by short-term memory loss. Once the disease progresses, patients experience difficulties in sense of direction, oral communication, calculation, ability to learn, and cognitive thinking. The median duration of the disease is 10 years. The pathology is characterized by deposition of amyloid beta peptide (so-called senile plaques and tau protein in the form of neurofibrillary tangles. Currently, two classes of drugs are licensed by the European Medicines Agency for the treatment of AD, ie, acetylcholinesterase inhibitors for mild to moderate AD, and memantine, an N-methyl-D-aspartate receptor antagonist, for moderate and severe AD. Treatment with acetylcholinesterase inhibitors or memantine aims at slowing progression and controlling symptoms, whereas drugs under development are intended to modify the pathologic steps leading to AD. Herein, we review the clinical features, pharmacologic properties, and cost-effectiveness of the available acetylcholinesterase inhibitors and memantine, and focus on disease-modifying drugs aiming to interfere with the amyloid beta peptide, including vaccination, passive immunization, and tau deposition. Keywords: Alzheimer's disease, acetylcholinesterase inhibitors, memantine, disease-modifying drugs, diagnosis, treatment

Perianal disease, small bowel disease, smoking, prior steroid or early azathioprine/biological therapy are predictors of disease behavior change in patients with Crohn’s disease

Science.gov (United States)

Lakatos, Peter Laszlo; Czegledi, Zsofia; Szamosi, Tamas; Banai, Janos; David, Gyula; Zsigmond, Ferenc; Pandur, Tunde; Erdelyi, Zsuzsanna; Gemela, Orsolya; Papp, Janos; Lakatos, Laszlo

2009-01-01

AIM: To assess the combined effect of disease phenotype, smoking and medical therapy [steroid, azathioprine (AZA), AZA/biological therapy] on the probability of disease behavior change in a Caucasian cohort of patients with Crohn’s disease (CD). METHODS: Three hundred and forty well-characterized, unrelated, consecutive CD patients were analyzed (M/F: 155/185, duration: 9.4 ± 7.5 years) with a complete clinical follow-up. Medical records including disease phenotype according to the Montreal classification, extraintestinal manifestations, use of medications and surgical events were analyzed retrospectively. Patients were interviewed on their smoking habits at the time of diagnosis and during the regular follow-up visits. RESULTS: A change in disease behavior was observed in 30.8% of patients with an initially non-stricturing, non-penetrating disease behavior after a mean disease duration of 9.0 ± 7.2 years. In a logistic regression analysis corrected for disease duration, perianal disease, smoking, steroid use, early AZA or AZA/biological therapy use were independent predictors of disease behavior change. In a subsequent Kaplan-Meier survival analysis and a proportional Cox regression analysis, disease location (P = 0.001), presence of perianal disease (P < 0.001), prior steroid use (P = 0.006), early AZA (P = 0.005) or AZA/biological therapy (P = 0.002), or smoking (P = 0.032) were independent predictors of disease behavior change. CONCLUSION: Our data suggest that perianal disease, small bowel disease, smoking, prior steroid use, early AZA or AZA/biological therapy are all predictors of disease behavior change in CD patients. PMID:19630105

[Inpatients days in patients with respiratory diseases and periodontal disease].

Science.gov (United States)

Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; González-Cruz, Herminia; Casa-Medina, Guillermo; García-Sancho, Cecilia

2017-01-01

Periodontal disease is a chronic inflammatory gingival process that has been associated with the severity of respiratory diseases. In Mexico a prevalence of 78% was found in population with social security and > 60 years old. The aim of this study is to establish the association between periodontal disease and respiratory diseases according to the inpatient days. A cross-sectional study was conducted from January to December 2011. We included hospitalized patients, ≥ 18 years of age, without sedation or intubated. A dentist classified patients into two groups according to the severity of the periodontal disease: mild-to-moderate and severe. We estimated medians of inpatient days by disease and severity. Negative binomial models were adjusted to estimate incidence rate ratios and predicted inpatient days. 3,059 patients were enrolled. The median of observed and predicted inpatient days was higher in the group of severe periodontal disease (p disease, tuberculosis, and influenza had the highest incidence rates ratios of periodontal disease (p periodontal disease is positively -associated with inpatient days of patients with respiratory diseases.

Disease phenotype at diagnosis in pediatric Crohn's disease

DEFF Research Database (Denmark)

de Bie, Charlotte I; Paerregaard, Anders; Kolacek, Sanja

2013-01-01

It has been speculated that pediatric Crohn's disease (CD) is a distinct disease entity, with probably different disease subtypes. We therefore aimed to accurately phenotype newly diagnosed pediatric CD by using the pediatric modification of the Montreal classification, the Paris classification....

Skin diseases: prevalence and predictors of itch and disease severity.

OpenAIRE

Verhoeven, E.W.M.

2009-01-01

Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General definitions of health encompass different dimensions of disease outcome divided in disease severity, accompanying physical symptoms, and psychosocial well-being. These dimensions of disease outcom...

[Parkinson's disease(s): recent insight into genetic factors

NARCIS (Netherlands)

Warrenburg, B.P.C. van de; Scheffer, H.; Heutink, P.; Bloem, B.R.

2007-01-01

In recent years, 5 genes have been identified that are unambiguously associated with genetic forms of Parkinson's disease. These genes probably explain less than 10% of all cases of Parkinson's disease. Clinically, these genetic forms can closely resemble idiopathic Parkinson's disease. Mutation

Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

Science.gov (United States)

Desai, Rajen U; Saffra, Norman A; Krishna, Rati P; Rosenberg, Steven E

2011-01-01

The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease. Copyright 2010, SLACK Incorporated.

Periodontal Disease and Systemic Diseases: An Update for the Clinician.

Science.gov (United States)

John, Vanchit; Alqallaf, Hawra; De Bedout, Tatiana

2016-01-01

A link between periodontal disease and various systemic diseases has been investigated for several years. Interest in unearthing such a link has grown as the health care profession is looking for a better understanding of disease processes and their relationships to periodontal and other oral diseases. The article aims to provide recent information on the relationship between periodontal disease and systemic diseases such as; cardiovascular, respiratory, endocrine, musculoskeletal, and reproductive system related abnormalities.

Occupational skin diseases

DEFF Research Database (Denmark)

Mahler, V; Aalto-Korte, K; Alfonso, J H

2017-01-01

BACKGROUND: Work-related skin diseases (WSD) are caused or worsened by a professional activity. Occupational skin diseases (OSD) need to fulfil additional legal criteria which differ from country to country. OSD range amongst the five most frequently notified occupational diseases (musculoskeletal...... diseases, neurologic diseases, lung diseases, diseases of the sensory organs, skin diseases) in Europe. OBJECTIVE: To retrieve information and compare the current state of national frameworks and pathways to manage patients with occupational skin disease with regard to prevention, diagnosis, treatment...... in Science and Technology (COST) Action TD 1206 (StanDerm) (www.standerm.eu). RESULTS: Besides a national health service or a statutory health insurance, most European member states implemented a second insurance scheme specifically geared at occupational diseases [insurance against occupational risks...

Lysosomal storage diseases

Science.gov (United States)

Ferreira, Carlos R.; Gahl, William A.

2016-01-01

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively. PMID:29152458

Pick disease

Science.gov (United States)

Semantic dementia; Dementia - semantic; Frontotemporal dementia; FTD; Arnold Pick disease; 3R tauopathy ... doctors tell Pick disease apart from Alzheimer disease. (Memory loss is often the main, and earliest, symptom ...

Prevalence of coeliac disease in Italian patients affected by Addison's disease.

Science.gov (United States)

Biagi, Federico; Campanella, Jonia; Soriani, Alessandra; Vailati, Alberto; Corazza, Gino R

2006-03-01

It is well known that coeliac disease is associated with autoimmune endocrine diseases, such as autoimmune thyroid disease and insulin-dependent diabetes mellitus. Recently, coeliac disease has been shown in approximately 10% of patients with autoimmune Addison's disease. Addison's disease is the most common cause of primary adrenocortical insufficiency and it shares several clinical features with coeliac disease. Although hyperpigmentation and hypotension are the most specific signs, gastrointestinal symptoms are common and can be the first complaints of the patients. The aim of our study was to investigate the prevalence of coeliac disease in Italian patients with Addison's disease. Seventeen consecutive patients affected by Addison's disease (14 F, mean age 53.9 years, range 26-79 years) were enrolled in the study. Eleven of them were affected by Addison's disease associated with autoimmune thyroid disease and/or insulin-dependent diabetes mellitus; the other 6 patients were suffering from isolated Addison's disease. Diagnosis had been performed at the age of 40.5 years (range 23-55). Steroid treatment had already been started in 16 of the patients. Endomysial antibodies were tested in all of them and a duodenal biopsy was taken in those found to be positive for antiendomysial antibody (EMA). One out of 17 patients was found to be EMA positive. Duodenal biopsy confirmed the diagnosis of coeliac disease by showing subtotal villous atrophy. Although we studied only a small sample, our preliminary results confirmed that Addison's disease is associated with coeliac disease, being present in 5.9% of patients with Addison's disease. Since the symptoms can be similar and treatment of Addison's disease can mask coeliac disease, this association should always be actively investigated.

A disease state fingerprint for evaluation of Alzheimer's disease

DEFF Research Database (Denmark)

Mattila, Jussi; Koikkalainen, Juha; Virkki, Arho

2011-01-01

Diagnostic processes of Alzheimer's disease (AD) are evolving. Knowledge about disease-specific biomarkers is constantly increasing and larger volumes of data are being measured from patients. To gain additional benefits from the collected data, a novel statistical modeling and data visualization...... interpretation of the information. To model the AD state from complex and heterogeneous patient data, a statistical Disease State Index (DSI) method underlying the DSF has been developed. Using baseline data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), the ability of the DSI to model disease...

Celiac disease

Directory of Open Access Journals (Sweden)

Holtmeier Wolfgang

2006-03-01

Full Text Available Abstract Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen; often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

Heavy Chain Diseases

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... of heavy chain produced: Alpha Gamma Mu Alpha Heavy Chain Disease Alpha heavy chain disease (IgA heavy ... the disease or lead to a remission. Gamma Heavy Chain Disease Gamma heavy chain disease (IgG heavy ...

Celiac Disease

Directory of Open Access Journals (Sweden)

Manoochehr Karjoo

2014-08-01

Full Text Available Celiac disease also known as gluten-sensitive enteropathy is characterized by intestinal mucosal damage and malabsorption from dietary intake of wheat, rye or barley. Symptoms may appear with introduction of cereal in the first 3 years of life. A second peak in symptoms occurs in adults during the third or forth decade and even as late as eight decade of life. The prevalence of this disease is approximately 1 in 250 adults. The disease is more prevalent in Ireland as high as 1 in 120 adults. The disorder occurs in Arab, Hispanics, Israeli Jews, Iranian and European but is rare in Chinese and African American. To have celiac disease the patient should have the celiac disease genetic markers as HLA DQ 2 and HLA DQ 8. Patient with celiac disease may have 95 per cent for DQ 2 and the rest is by DQ 8. Someone may have the genetic marker and never develops the disease. In general 50 percent with markers may develop celiac disease. To develop the disease the gene needs to become activated. This may happen with a viral or bacterial infection, a surgery, delivery, accident, or psychological stress. After activation of gene cause the tight junction to opens with the release of Zonulin This results in passage of gluten through the tight junction and formation of multiple antibodies and autoimmune disease. This also allows entrance of other proteins and development of multiple food allergies. As a result is shortening, flattening of intestinal villi resulting in food, vitamins and minerals malabsorption.

Prion Diseases

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... with facebook share with twitter share with linkedin Prion Diseases Prion diseases are a related group of ... deer and elk. Why Is the Study of Prion Diseases a Priority for NIAID? Much about TSE ...

Diabetic Eye Disease

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... Disease, & Other Dental Problems Diabetes & Sexual & Urologic Problems Diabetic Eye Disease What is diabetic eye disease? Diabetic eye disease is a group ... eye diseases that can threaten your sight are Diabetic retinopathy The retina is the inner lining at ...

Infectious Diseases

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... But some of them can make you sick. Infectious diseases are diseases that are caused by germs. There ... many different ways that you can get an infectious disease: Through direct contact with a person who is ...

Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination

Science.gov (United States)

... Adult Diseases Resources Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination Language: English (US) Español (Spanish) ... important step in staying healthy. If you have cardiovascular disease, talk with your doctor about getting your vaccinations ...

Association of Relationship between Periodontal Disease and Cardiovascular Disease.

Science.gov (United States)

Johar, N; Dhodapkar, S V; Kumar, R; Verma, T; Jajoo, A

2017-04-01

The present study was undertaken to determine the relationship between periodontal and cardiovascular disease. Previous studies have shown some co-relation between the two conditions. We included 186 patients divided into four groups. First two Groups (A1 & A2) were the patients with cardiac disease (100 in numbers) whilst Groups (B1 & B2) (86 in numbers) were treated as controls (without cardiac disease). Following markers of periodontal disease were assessed - plaque index, calculus index, gingival and periodontal index. Markers of cardiovascular disease included were LDL, HDL, total cholesterol and CRP. Ramfjords periodontal index was used to assess the extent of periodontal disease. In the present study there was a significant increase in CRP levels in Group A1 (CVD + PD) compared to controls and overall the two cardiac groups showed a significant increase in CRP compared to controls. There was a non-significant change in lipid profile markers (LDL, HDL and total cholesterol). Periodontal Disease Index (PDI) was also increased in Group A1 compared to other groups except Group B1 and overall in cardiac groups compared to non-cardiac (PD) groups. In this study no correlation between periodontal and cardiovascular disease was found. This may be due intake of statins by few patients in Group A with a confirmed diagnosis of cardiovascular disease.

Prostate Diseases

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... Home › Aging & Health A to Z › Prostate Diseases Font size A A A Print Share Glossary Basic ... body. Approximately 3 million American men have some type of prostate disease. The most common prostate diseases ...

Periodontal Diseases

Science.gov (United States)

... diseases. The primary research focus was on oral bacteria. Periodontal diseases were thought to begin when chalky white ... tools to target their treatment specifically to the bacteria that trigger periodontal disease. At the same time, because biofilms form ...

Chronic Inflammatory Diseases and Atherosclerotic Cardiovascular Disease

DEFF Research Database (Denmark)

Hansen, Peter Riis

2018-01-01

Inflammation plays a significant role in atherosclerosis and cardiovascular disease (CVD). Patients with chronic inflammatory diseases are at increased risk of CVD, but it is debated whether this association is causal or dependent on shared risk factors, other exposures, genes, and/or inflammatory...... pathways. The current review summarizes epidemiological, clinical, and experimental data supporting the role of shared inflammatory mechanisms between atherosclerotic CVD and rheumatoid arthritis, psoriasis, inflammatory bowel disease, and periodontitis, respectively, and provides insights to future...... prospects in this area of research. Awareness of the role of inflammation in CVD in patients with chronic inflammatory diseases and the potential for anti-inflammatory therapy, e.g., with tumor necrosis factor-α inhibitors, to also reduce atherosclerotic CVD has evolved into guideline- based recommendations...

The lysosomal storage disease continuum with ageing-related neurodegenerative disease.

Science.gov (United States)

Lloyd-Evans, Emyr; Haslett, Luke J

2016-12-01

Lysosomal storage diseases and diseases of ageing share many features both at the physiological level and with respect to the mechanisms that underlie disease pathogenesis. Although the exact pathophysiology is not exactly the same, it is astounding how many similar pathways are altered in all of these diseases. The aim of this review is to provide a summary of the shared disease mechanisms, outlining the similarities and differences and how genetics, insight into rare diseases and functional research has changed our perspective on the causes underlying common diseases of ageing. The lysosome should no longer be considered as just the stomach of the cell or as a suicide bag, it has an emerging role in cellular signalling, nutrient sensing and recycling. The lysosome is of fundamental importance in the pathophysiology of diseases of ageing and by comparing against the LSDs we not only identify common pathways but also therapeutic targets so that ultimately more effective treatments can be developed for all neurodegenerative diseases. Copyright © 2016. Published by Elsevier B.V.

Periodontal disease and non-communicable diseases. Strength of bidirectional associations

OpenAIRE

Kassier, SM

2016-01-01

Periodontal disease (PD), along with cardiovascular and circulatory disease, diabetes mellitus, chronic respiratory disease and obesity, are globally regarded as some of the major non-communicable diseases (NCDs). The association between PD and these systemic illnesses is described as bidirectional. Gaining an understanding of the strength of the proposed associations between these diseases is important, as it will enable health professionals to identify common risk factors that will allow fo...

Dent disease

Directory of Open Access Journals (Sweden)

Rina R Rus

2017-04-01

Full Text Available Dent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Signs and symptoms of this condition appear in early childhood and worsen over time. There are two forms of Dent disease, which are distinguished by their genetic cause and pattern of signs and symptoms (type 1 and type 2. Dent disease 2 is characterized by the features described above and also associated with extrarenal abnormalities (they include mild intellectual disability, hypotonia, and cataract. Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome.We represent a case of a 3-year old boy with significant proteinuria in the nephrotic range and hypercalciuria. We confirmed Dent disease type 1 by genetic analysis.

Prevalence of periodontal disease, its association with systemic diseases and prevention.

Science.gov (United States)

Nazir, Muhammad Ashraf

2017-01-01

Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular disease, diabetes, and adverse pregnancy outcomes. Periodontal disease is likely to cause 19% increase in the risk of cardiovascular disease, and this increase in relative risk reaches to 44% among individuals aged 65 years and over. Type 2 diabetic individuals with severe form of periodontal disease have 3.2 times greater mortality risk compared with individuals with no or mild periodontitis. Periodontal therapy has been shown to improve glycemic control in type 2 diabetic subjects. Periodontitis is related to maternal infection, preterm birth, low birth weight, and preeclampsia. Oral disease prevention strategies should be incorporated in chronic systemic disease preventive initiatives to curtail the burden of disease in populations. The reduction in the incidence and prevalence of periodontal disease can reduce its associated systemic diseases and can also minimize their financial impact on the health-care systems. It is hoped that medical, dental practitioners, and other health-care professionals will get familiar with perio-systemic link and risk factors, and need to refer to the specialized dental or periodontal care.

DISEASES

DEFF Research Database (Denmark)

Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi

2015-01-01

Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

TEMPORAL ORDER OF DISEASE PAIRS AFFECTS SUBSEQUENT DISEASE TRAJECTORIES

DEFF Research Database (Denmark)

Beck, Mette K; Westergaard, David; Jensen, Anders Boeck

2016-01-01

order of appearance. We discuss these different types of disease co-occurrences, and use the two diseases "sleep apnea" and "diabetes" to showcase the approach which otherwise can be applied to any disease pair. We benefit from seven million electronic medical records covering the entire population...... of Denmark for more than 20 years. Sleep apnea is the most common sleep-related breathing disorder and it has previously been shown to be bidirectionally linked to diabetes, meaning that each disease increases the risk of acquiring the other. We confirm that there is no significant temporal relationship......, as approximately half of patients with both diseases are diagnosed with diabetes first. However, we also show that patients diagnosed with diabetes before sleep apnea have a higher disease burden compared to patients diagnosed with sleep apnea before diabetes. The study clearly demonstrates that it is not only...

Coronary heart disease

Science.gov (United States)

Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... buildup of plaque in the arteries to your heart. This may also be called hardening of the ...

Autoinflammatory Diseases

International Nuclear Information System (INIS)

Penaranda P, Edgar; Spinel B, Nestor; Restrepo, Jose F; Rondon H, Federico; Millan S, Alberto; Iglesias G Antonio

2010-01-01

We present a review article on the autoinflammatory diseases, narrating its historical origin and describing the protein and molecular structure of the Inflammasome, the current classification of the autoinflammatory diseases and a description of the immuno genetics and clinical characteristics more important of every disease.

Niemann-Pick disease

Science.gov (United States)

NPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-Pick ... lipofuscinoses or Batten disease (Wolman disease, cholesteryl ... metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW, ...

Chronic pulmonary disease - a multifacted disease complex in the horse

International Nuclear Information System (INIS)

Clarke, A.F.

1987-01-01

This paper reviews chronic pulmonary disease (CPD) as an insidiously developing disease capable of being manifest in many degrees. Horses may suffer mild, sub-clinical degrees of lower respiratory tract inflammation or small airway disease withouth showing symptoms at rest. This form of disease becomes manifest as poor performance when these horses take part in athletic competition. Factors relating to the aetiology, diagnosis, treatment and prevention of all degrees of small airway disease of horses are discussed. 30 refs

Gaucher disease

Science.gov (United States)

... please enable JavaScript. Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). Causes Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease. It ...

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011.

Directory of Open Access Journals (Sweden)

Alies van Lier

Full Text Available Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands.The average annual disease burden was computed for the period 2007-2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911-9961 and influenza (8670 DALYs/year; 95% UI: 8468-8874, which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five diseases can be

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011

Science.gov (United States)

Bouwknegt, Martijn; Kretzschmar, Mirjam E.; Mangen, Marie-Josée J.; Wallinga, Jacco; de Melker, Hester E.

2016-01-01

Background Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands. Methods and Findings The average annual disease burden was computed for the period 2007–2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY) measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911–9961) and influenza (8670 DALYs/year; 95% UI: 8468–8874), which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011.

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van Lier, Alies; McDonald, Scott A; Bouwknegt, Martijn; Kretzschmar, Mirjam E; Havelaar, Arie H; Mangen, Marie-Josée J; Wallinga, Jacco; de Melker, Hester E

2016-01-01

Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands. The average annual disease burden was computed for the period 2007-2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY) measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911-9961) and influenza (8670 DALYs/year; 95% UI: 8468-8874), which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five diseases can be attributed to the

Parkinson's Disease Dementia

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... Find your local chapter Join our online community Parkinson's Disease Dementia Parkinson's disease dementia is an impairment ... disease. About Symptoms Diagnosis Causes & risks Treatments About Parkinson's disease dementia The brain changes caused by Parkinson's ...

[Emerging noninfectious diseases].

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Consiglio, Ezequiel

2008-11-01

In recent years, emerging diseases were defined as being infectious, acquiring high incidence, often suddenly, or being a threat or an unexpected phenomenon. This study discusses the hallmarks of emerging diseases, describing the existence of noninfectious emerging diseases, and elaborating on the advantages of defining noninfectious diseases as emerging ones. From the discussion of various mental health disorders, nutritional deficiencies, external injuries and violence outcomes, work injuries and occupational health, and diseases due to environmental factors, the conclusion is drawn that a wide variety of noninfectious diseases can be defined as emergent. Noninfectious emerging diseases need to be identified in order to improve their control and management. A new definition of "emergent disease" is proposed, one that emphasizes the pathways of emergence and conceptual traits, rather than descriptive features.

Coronary heart disease after radiotherapy for peptic ulcer disease

International Nuclear Information System (INIS)

Carr, Zhanat A.; Land, Charles E.; Kleinerman, Ruth A.; Weinstock, Robert W.; Stovall, Marilyn; Griem, Melvin L.; Mabuchi, Kiyohiko

2005-01-01

Purpose: To evaluate the risk of coronary heart disease (CHD) and cerebrovascular disease after radiotherapy (RT) for peptic ulcer disease. Methods and materials: Peptic ulcer disease patients treated with RT (n = 1859) or by other means (n = 1860) at the University of Chicago Medical Center between 1936 and 1965, were followed through 1997. The observed numbers of cause-specific deaths were compared with the expected numbers from the general population rates. During RT, 5% of the heart was in the treatment field and the remainder of the heart mostly received scattered radiation. A volume-weighted cardiac dose was computed to describe the average tissue dose to the entire organ. We used Cox proportional hazards regression analysis to analyze the CHD and cerebrovascular disease risk associated with RT, adjusting for confounding factors. Results: Greater than expected CHD mortality was observed among the irradiated patients. The irradiated patients received volume-weighted cardiac doses ranging from 1.6 to 3.9 Gy and the portion of the heart directly in the field received doses of 7.6-18.4 Gy. The CHD risk increased with the cardiac dose (p trend = 0.01). The cerebrovascular disease risk was not associated with the surrogate carotid dose. Conclusion: The excess CHD risk in patients undergoing RT for peptic ulcer disease decades previously indicates the need for long-term follow-up for cardiovascular disease after chest RT

Rheumatic heart disease: infectious disease origin, chronic care approach.

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Katzenellenbogen, Judith M; Ralph, Anna P; Wyber, Rosemary; Carapetis, Jonathan R

2017-11-29

Rheumatic heart disease (RHD) is a chronic cardiac condition with an infectious aetiology, causing high disease burden in low-income settings. Affected individuals are young and associated morbidity is high. However, RHD is relatively neglected due to the populations involved and its lower incidence relative to other heart diseases. In this narrative review, we describe how RHD care can be informed by and integrated with models of care developed for priority non-communicable diseases (coronary heart disease), and high-burden communicable diseases (tuberculosis). Examining the four-level prevention model (primordial through tertiary prevention) suggests primordial and primary prevention of RHD can leverage off existing tuberculosis control efforts, given shared risk factors. Successes in coronary heart disease control provide inspiration for similarly bold initiatives for RHD. Further, we illustrate how the Chronic Care Model (CCM), developed for use in non-communicable diseases, offers a relevant framework to approach RHD care. Systems strengthening through greater integration of services can improve RHD programs. Strengthening of systems through integration/linkages with other well-performing and resourced services in conjunction with policies to adopt the CCM framework for the secondary and tertiary prevention of RHD in settings with limited resources, has the potential to significantly reduce the burden of RHD globally. More research is required to provide evidence-based recommendations for policy and service design.

Associated Autoimmune Diseases

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... gland in the neck, thick and coarse hair. Addison’s Disease Arare disease involving the adrenal gland. The prevalence of celiac disease in people with addison’s disease is significant. Symptoms of Addison’s may include weight ...

Mad Cow Disease

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... Safe Videos for Educators Search English Español Mad Cow Disease KidsHealth / For Teens / Mad Cow Disease What's ... are people to get it? What Is Mad Cow Disease? Mad cow disease is an incurable, fatal ...

Skin Diseases: Skin Health and Skin Diseases

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Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Skin Health and Skin Diseases Past Issues / Fall 2008 Table of Contents ... acne to wrinkles Did you know that your skin is the largest organ of your body? It ...

Lyme Disease.

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Taylor, George C.

1991-01-01

This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public…

Wilson’s Disease: An Inherited, Silent, Copper Intoxication Disease

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Uta Merle

2016-07-01

Full Text Available Wilson’s disease is a rare, autosomal recessive, genetic, copper overload disease, which evokes multiple motor or neuropsychiatric symptoms and liver disease. It is the consequence of a variety of different mutations affecting the ATP7B gene. This gene encodes for a class IB, P-type, copper-transporting ATPase, which is located in the trans-Golgi network of the liver and brain, and mediates the excretion of excess copper into the bile. When functionally inactive, the excess copper is deposited in the liver, brain, and other tissues. Free copper induces oxidative stress, lipid peroxidation, and lowers the apoptotic threshold of the cell. The symptoms in affected persons can vary widely and usually appear between the ages of 6 years and 20 years, but there are also cases in which the disease manifests in advanced age. In this review, we discuss the considerations in diagnosis, clinical management, and treatment of Wilson’s disease. In addition, we highlight experimental efforts that address the pathogenesis of Wilson’s disease in ATP7B deficient mice, novel analytical techniques that will improve the diagnosis at an early stage of disease onset, and treatment results with copper-chelating agents.

Celiac Disease: Diagnosis.

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Byrne, Greg; Feighery, Conleth F

2015-01-01

Historically the diagnosis of celiac disease has relied upon clinical, serological, and histological evidence. In recent years the use of sensitive serological methods has meant an increase in the diagnosis of celiac disease. The heterogeneous nature of the disorder presents a challenge in the study and diagnosis of the disease with patients varying from subclinical or latent disease to patients with overt symptoms. Furthermore the related gluten-sensitive disease dermatitis herpetiformis, while distinct in some respects, shares clinical and serological features with celiac disease. Here we summarize current best practice for the diagnosis of celiac disease and briefly discuss newer approaches. The advent of next-generation assays for diagnosis and newer clinical protocols may result in more sensitive screening and ultimately the possible replacement of the intestinal biopsy as the gold standard for celiac disease diagnosis.

Wireless Monitoring for Patients with Cardiovascular Diseases and Parkinson's Disease.

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Kefaliakos, Antonios; Pliakos, Ioannis; Charalampidou, Martha; Diomidous, Marianna

2016-01-01

The use of applications for mobile devices and wireless sensors is common for the sector of telemedicine. Recently various studies and systems were developed in order to help patients suffering from severe diseases such as cardiovascular diseases and Parkinson's disease. They present a challenge for the sector because such systems demand the flow of accurate data in real time and the use of specialized sensors. In this review will be presented some very interesting applications developed for patients with cardiovascular diseases and Parkinson's disease.

Wilson’s Disease

Directory of Open Access Journals (Sweden)

Figen Hanağası

2013-12-01

Full Text Available Wilson’s disease is a autosomal recessive disorder of copper metabolism. Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Wilson’s disease is caused by mutations in the ATP7B gene. ATP7B encodes a hepatic copper-transporting protein, which is important for copper excretion into bile. Neurological symptoms in Wilson’s disease include variable combinations of dysathria, ataxia, parkinsonism, dystonia and tremor. Wilson’s disease is lethal if untreated. This review discusses the epidemiology, genetics, clinical features, etiopathophysiology, diagnostic tests, and treatment of Wilson’s disease

Influence of cerebrovascular disease on brain networks in prodromal and clinical Alzheimer's disease.

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Chong, Joanna Su Xian; Liu, Siwei; Loke, Yng Miin; Hilal, Saima; Ikram, Mohammad Kamran; Xu, Xin; Tan, Boon Yeow; Venketasubramanian, Narayanaswamy; Chen, Christopher Li-Hsian; Zhou, Juan

2017-11-01

Network-sensitive neuroimaging methods have been used to characterize large-scale brain network degeneration in Alzheimer's disease and its prodrome. However, few studies have investigated the combined effect of Alzheimer's disease and cerebrovascular disease on brain network degeneration. Our study sought to examine the intrinsic functional connectivity and structural covariance network changes in 235 prodromal and clinical Alzheimer's disease patients with and without cerebrovascular disease. We focused particularly on two higher-order cognitive networks-the default mode network and the executive control network. We found divergent functional connectivity and structural covariance patterns in Alzheimer's disease patients with and without cerebrovascular disease. Alzheimer's disease patients without cerebrovascular disease, but not Alzheimer's disease patients with cerebrovascular disease, showed reductions in posterior default mode network functional connectivity. By comparison, while both groups exhibited parietal reductions in executive control network functional connectivity, only Alzheimer's disease patients with cerebrovascular disease showed increases in frontal executive control network connectivity. Importantly, these distinct executive control network changes were recapitulated in prodromal Alzheimer's disease patients with and without cerebrovascular disease. Across Alzheimer's disease patients with and without cerebrovascular disease, higher default mode network functional connectivity z-scores correlated with greater hippocampal volumes while higher executive control network functional connectivity z-scores correlated with greater white matter changes. In parallel, only Alzheimer's disease patients without cerebrovascular disease showed increased default mode network structural covariance, while only Alzheimer's disease patients with cerebrovascular disease showed increased executive control network structural covariance compared to controls. Our

Genotator: A disease-agnostic tool for genetic annotation of disease

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Jung Jae-Yoon

2010-10-01

Full Text Available Abstract Background Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. Methods We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Results Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. Conclusions As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked

Genotator: a disease-agnostic tool for genetic annotation of disease.

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Wall, Dennis P; Pivovarov, Rimma; Tong, Mark; Jung, Jae-Yoon; Fusaro, Vincent A; DeLuca, Todd F; Tonellato, Peter J

2010-10-29

Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked data that remains current with the pace of research in the disease

Neuroinflammation in Alzheimer's disease and prion disease

NARCIS (Netherlands)

Eikelenboom, P.; Bate, C.; van Gool, W. A.; Hoozemans, J. J. M.; Rozemuller, J. M.; Veerhuis, R.; Williams, A.

2002-01-01

Alzheimer's disease (AD) and prion disease are characterized neuropathologically by extracellular deposits of Abeta and PrP amyloid fibrils, respectively. In both disorders, these cerebral amyloid deposits are co-localized with a broad variety of inflammation-related proteins (complement factors,

Chronic obstructive pulmonary disease and chronic heart failure: two muscle diseases?

Science.gov (United States)

Troosters, Thierry; Gosselink, Rik; Decramer, Marc

2004-01-01

Chronic obstructive pulmonary disease and congestive heart failure are two increasingly prevalent chronic diseases. Although care for these patients often is provided by different clinical teams, both disease conditions have much in common. In recent decades, more knowledge about the systemic impact of both diseases has become available, highlighting remarkable similarities in terms of prognostic factors and disease management. Rehabilitation programs deal with the systemic consequences of both diseases. Although clinical research also is conducted by various researchers investigating chronic obstructive pulmonary disease and chronic heart failure, it is worthwhile to compare the progress in relation to these two diseases over recent decades. Such comparison, the purpose of the current review, may help clinicians and scientists to learn about progress made in different, yet related, fields. The current review focuses on the similarities observed in the clinical impact of muscle weakness, the mechanisms of muscle dysfunction, the strategies to improve muscle function, and the effects of exercise training on chronic obstructive pulmonary disease and chronic heart failure.

Phenotype and Clinical Course of Inflammatory Bowel Disease with Co-Existent Celiac Disease.

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Tse, Chung Sang; Deepak, Parakkal; De La Fuente, Jaime; Bledsoe, Adam C; Larson, Joseph J; Murray, Joseph A; Papadakis, Konstantinos A

2018-05-07

Inflammatory bowel diseases, principally Crohn's disease and ulcerative colitis, and celiac disease are among the most common immune-mediated gastrointestinal diseases. We aim to elucidate the clinical course and outcomes of patients with concomitant inflammatory bowel disease and celiac disease, a unique population that remains scarcely studied to date. A retrospective matched case-control study of adults with coexistent inflammatory bowel disease and celiac disease was performed at a tertiary referral institution in North America. Logistic regression and Kaplan-Meier curves compared disease characteristics and clinical outcomes of the two groups. A total of 342 inflammatory bowel disease patients were included in this study, of which 114 had coexistent celiac disease and 228 did not. Patients with coexistent inflammatory bowel disease and celiac disease had higher rates of primary sclerosing cholangitis (19.3% vs 5.7%; odds ratio, 4.4; 95% confidence interval, 2.1-9.4; pceliac disease (10.5% vs 3.5%; odds ratio 3.2; 95% confidence interval 1.3-8.2; p=0.01), compared to patients without concomitant celiac disease. Patients with inflammatory bowel disease with concomitant celiac disease have unique phenotypic features compared to non-celiac inflammatory bowel disease, with higher risks for colitis-related hospitalizations, extensive colitis, and primary sclerosing cholangitis. Increased recognition of coexistent IBD and celiac disease can prompt clinicians to investigate for concomitant disease sooner, particularly in patients with seemingly refractory disease.

Periodontal disease and anemias associated with Crohn's disease. A case report.

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Nagpal, Swati; Acharya, Anirudh B; Thakur, Srinath L

2012-03-01

Crohn's disease (CD) is an inflammatory bowel disease with oral findings, including periodontal manifestations. Anemias, such as iron deficiency and anemia of chronic disease (ACD), are the most common hematologic complications of CD. Periodontitis has systemic effects, and may tend toward anemia, which can be explained by depressed erythropoiesis. In the report presented here, the authors review a case of Crohn's disease diagnosed 10 years previous to the patient presenting with a changing anemic profile and periodontal disease. A discussion of patient and disease management is included.

Is the disease course predictable in inflammatory bowel diseases?

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Lakatos, Peter Laszlo; Kiss, Lajos S

2010-01-01

During the course of the disease, most patients with Crohn’s disease (CD) may eventually develop a stricturing or a perforating complication, and a significant number of patients with both CD and ulcerative colitis will undergo surgery. In recent years, research has focused on the determination of factors important in the prediction of disease course in inflammatory bowel diseases to improve stratification of patients, identify individual patient profiles, including clinical, laboratory and molecular markers, which hopefully will allow physicians to choose the most appropriate management in terms of therapy and intensity of follow-up. This review summarizes the available evidence on clinical, endoscopic variables and biomarkers in the prediction of short and long-term outcome in patients with inflammatory bowel diseases. PMID:20518079

Celiac Disease in Patients with Cystic Fibrosis-Related Bone Disease

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Melissa S. Putman

2017-01-01

Full Text Available Both cystic fibrosis (CF and celiac disease can cause low bone mineral density (BMD and fractures. Celiac disease may occur at a higher frequency in patients with CF than the general population, and symptoms of these conditions may overlap. We report on two patients presenting with CF-related bone disease in the past year who were subsequently found to have concurrent celiac disease. Because adherence to a gluten-free diet may improve BMD in patients with celiac disease, this could have important implications for treatment. Clinicians should consider screening for celiac disease in patients with CF who have low BMD, worsening BMD in the absence of other risk factors, and/or difficult to treat vitamin D deficiency.

Glycogen storage disease type II (Pompe disease in children

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A. N. Semyachkina

2014-01-01

Full Text Available The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, resulting in death from cardiovascular or pulmonary failure generally within the first year of a child’s life. Emphasis is laid on major difficulties in the differential and true diagnosis of this severe disease. Much attention is given to the new pathogenetic treatment — genetically engineered enzyme replacement drug Myozyme®. The authors describe their clinical case of a child with the juvenile form of glycogen storage disease type II (late-onset Pompe disease. Particular emphasis is laid on the clinical symptoms of the disease and its diagnostic methods, among which the morphological analysis of a muscle biopsy specimen by light and electron microscopies, and enzyme and DNA diagnoses are of most importance. The proband was found to have significant lysosomal glycogen accumulation in the muscle biopsy specimen, reduced lymphocyte acid α-1,4-glucosidase activity to 4,2 nM/mg/h (normal value, 13,0—53,6 nM/mg/h, described in the HGMD missense mutation database from 1000 G>A p.Gly334er of the GAA in homozygous state, which verified the diagnosis of Pompe disease. 

[Celiac disease - disease of children and adults: symptoms, disease complications, risk groups and comorbidities].

Science.gov (United States)

Majsiak, Emilia; Cichoż-Lach, Halina; Gubska, Olena; Cukrowska, Bożena

2018-01-23

About 1% of human population suffers from celiac disease (CD) and it is one of the most commonly diagnosed autoimmune disorders. Until recently it was believed that CD affects mainly children, but as the newest studies show, up to 60% recently diagnosed patients are adults, often over the age of 60. CD's medical signs are nonspecific. Atypical course of the disease with extraintestinal symptoms is being increasingly observed. The disease may also be asymptomatic over many years. The studies show that the average diagnosis of CD takes more than 10 years since the first symptoms appear. Nonspecific medical signs cause undiagnosed patients suffering from CD to visit gastroenterologists, endocrinologists, allergists, gynaecologists and other medical specialists. However, most frequently general practitioners have the first encounter with patients suffering from CD, therefore they are able to recognize symptoms of the disease at the earliest and refer the patient to a gastroenterologist. Early diagnosis and beginning of the treatment reduce complications of untreated CD. The aim of this paper is to show general practitioners symptoms, disease complications, risk groups and comorbidities of CD.

Pregnancy and Rheumatic Disease

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... with Rheumatic Disease Pregnancy & Rheumatic Disease Pregnancy and Rheumatic Disease Fast Facts Diseases with the potential to affect ... control. What are the effects of pregnancy on rheumatic disease? The effects of pregnancy on rheumatic diseases vary ...

Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms

Science.gov (United States)

Mistry, Pramod K.; Cappellini, Maria Domenica; Lukina, Elena; Özsan, Hayri; Pascual, Sara Mach; Rosenbaum, Hanna; Solano, Maria Helena; Spigelman, Zachary; Villarrubia, Jesús; Watman, Nora Patricia; Massenkeil, Gero

2010-01-01

Type 1 (non neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme testing is unequivocal, but the rarity of the disease and non-specific and heterogeneous nature of Gaucher disease symptoms may impede consideration of this disease in the differential diagnosis. To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease. PMID:21080341

Celiac disease

Directory of Open Access Journals (Sweden)

Radlović Nedeljko

2013-01-01

Full Text Available Celiac disease is a multysystemic autoimmune disease induced by gluten in wheat, barley and rye. It is characterized by polygenic predisposition, high prevalence (1%, widely heterogeneous expression and frequent association with other autoimmune diseases, selective deficit of IgA and Down, Turner and Williams syndrome. The basis of the disease and the key finding in its diagnostics is symptomatic or asymptomatic inflammation of the small intestinal mucosa which resolves by gluten-free diet. Therefore, the basis of the treatment involves elimination diet, so that the disorder, if timely recognized and adequately treated, also characterizes excellent prognosis.

Graves disease with ophthalmopathy following radiotherapy for Hodgkin's disease

International Nuclear Information System (INIS)

Jacobson, D.R.; Fleming, B.J.

1984-01-01

The number of patients achieving long-term survival following neck irradiation for Hodgkin's disease and other malignancies is increasing. Paralleling this increase in survivors is the development of late complications of the therapy itself. Eleven patients have previously been reported who developed Graves ophthalmopathy 18 months to seven years after receiving neck radiotherapy for nonthyroidal malignancies. The seven patients who had HLA typing were all HLA-B8 negative, despite the reported association of the HLA-B8 antigen with Graves disease. A patient who is HLA-B8 positive who developed Graves ophthalmopathy and hyperthyroidism nine years after receiving mantle radiotherapy for Hodgkin's disease is reported. It is recommended that Graves disease be included among the thyroid diseases that receive consideration during follow-up of patients who have received mantle radiotherapy

Prevalence of periodontal disease, its association with systemic diseases and prevention

OpenAIRE

Nazir, Muhammad Ashraf

2017-01-01

Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular di...

Chronic Disease and Childhood Development: Kidney Disease and Transplantation.

Science.gov (United States)

Klein, Susan D.; Simmons, Roberta G.

As part of a larger study of transplantation and chronic disease and the family, 124 children (10-18 years old) who were chronically ill with kidney disease (n=72) or were a year or more post-transplant (n=52) were included in a study focusing on the effects of chronic kidney disease and transplantation on children's psychosocial development. Ss…

Involvement of Gaucher Disease Mutations in Parkinson Disease.

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Vilageliu, Lluisa; Grinberg, Daniel

2017-01-01

Gaucher disease is an autosomal recessive lysosomal storage disorder, caused by mutations in the GBA gene. The frequency of Gaucher disease patients and heterozygote carriers that developed Parkinson disease has been found to be above that of the control population. This fact suggests that mutations in the GBA gene can be involved in Parkison's etiology. Analysis of large cohorts of patients with Parkinson disease has shown that there are significantly more cases bearing GBA mutations than those found among healthy individuals. Functional studies have proven an interaction between α-synuclein and GBA, the levels of which presented an inverse correlation. Mutant GBA proteins cause increases in α-synuclein levels, while an inhibition of GBA by α-synuclein has been also demonstrated. Saposin C, a coactivator of GBA, has been shown to protect GBA from this inhibition. Among the GBA variants associated with Parkinson disease, E326K seems to be one of the most prevalent. Interestingly, it is involved in Gaucher disease only when it forms part of a double-mutant allele, usually with the L444P mutation. Structural analyses have revealed that both residues (E326 and L444) interact with Saposin C and, probably, also with α-synuclein. This could explain the antagonistic role of these two proteins in relation to GBA. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Development of Graves' disease following radiation therapy in Hodgkin's disease

International Nuclear Information System (INIS)

Loeffler, J.S.; Tarbell, N.J.; Garber, J.R.; Mauch, P.

1988-01-01

Radiation-related thyroid dysfunction is a common occurrence in patients with Hodgkin's disease treated with mantle field radiation. Although chemical and clinical hypothyroidism are most commonly seen, Graves' disease has also been described. We have examined the records of 437 surgically staged patients who received mantle field irradiation between April 1969 and December 1980 to ascertain the frequency of manifestations of Graves' disease. Within this group, seven patients developed hyperthyroidism accompanied by ophthalmic findings typical of those seen in Graves' disease. The actuarial risk of developing Graves' disease at 10 years following mantle irradiation for Hodgkin's disease was 3.3% in female patients and 1% in male patients in this study. The observed/expected ratios were 5.9 and 5.1 for female and male patients, respectively. This observed risk significantly exceeded that seen in the general population

The acknowledgement of the Schneeberg lung disease as occupational disease in the first decree of occupational diseases from 1925

International Nuclear Information System (INIS)

Schuettmann, W.

1987-01-01

The Schneeberg lung disease is the lung cancer, conditioned by radiation which is caused by the influence of radon and of its subsequent products. It has gained a great importance after World War II as a consequence of the intensified mining of uranium ore. From the history of the disease, lasting some centuries, the period of the twenties and thirties of this century is represented in which on one side the conception of the causal importance of radon has made its way little by little, and on the other side the disease was acknowledged as occupational disease within the first decree of occupational diseases in the former German Reich. Evaluating materials from Saxon archives it is described how the legislative preparations to the acknowledgement of the Schneeberg lung disease as occupational disease and the simultaneous research to the elucidation of nature and cause of the disease have penetrated and influenced each other. (author)

The elusive baseline of marine disease: are diseases in ocean ecosystems increasing?

Directory of Open Access Journals (Sweden)

Jessica R Ward

2004-04-01

Full Text Available Disease outbreaks alter the structure and function of marine ecosystems, directly affecting vertebrates (mammals, turtles, fish, invertebrates (corals, crustaceans, echinoderms, and plants (seagrasses. Previous studies suggest a recent increase in marine disease. However, lack of baseline data in most communities prevents a direct test of this hypothesis. We developed a proxy to evaluate a prediction of the increasing disease hypothesis: the proportion of scientific publications reporting disease increased in recent decades. This represents, to our knowledge, the first quantitative use of normalized trends in the literature to investigate an ecological hypothesis. We searched a literature database for reports of parasites and disease (hereafter "disease" in nine marine taxonomic groups from 1970 to 2001. Reports, normalized for research effort, increased in turtles, corals, mammals, urchins, and molluscs. No significant trends were detected for seagrasses, decapods, or sharks/rays (though disease occurred in these groups. Counter to the prediction, disease reports decreased in fishes. Formulating effective resource management policy requires understanding the basis and timing of marine disease events. Why disease outbreaks increased in some groups but not in others should be a priority for future investigation. The increase in several groups lends urgency to understanding disease dynamics, particularly since few viable options currently exist to mitigate disease in the oceans.

A cross-sectional survey to study the relationship of periodontal disease with cardiovascular disease, respiratory disease, and diabetes mellitus.

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Oberoi, Sukhvinder Singh; Harish, Yashoda; Hiremath, Shivalingaswamy; Puranik, Manjunath

2016-01-01

Periodontal deterioration has been reported to be associated with systemic diseases such as cardiovascular disease (CVD), diabetes mellitus, respiratory disease, liver cirrhosis, bacterial pneumonia, nutritional deficiencies, and adverse pregnancy outcomes. The present study assessed the periodontal disease among patients with systemic conditions such as diabetes, CVD, and respiratory disease. The study population consisted of 220 patients each of CVD, respiratory disease, and diabetes mellitus, making a total of 660 patients in the systemic disease group. A control group of 340 subjects were also included in the study for comparison purpose. The periodontal status of the patients with these confirmed medical conditions was assessed using the community periodontal index of treatment needs (CPITNs) index. The prevalence of CPITN code 4 was found to be greater among the patients with respiratory disease whereas the mean number of sextants with score 4 was found to be greater among the patients with diabetes mellitus and CVD. The treatment need 0 was found to be more among the controls (1.18%) whereas the treatment need 1, 2, and 3 were more among the patients with respiratory disease (100%, 97.73%, and 54.8%), diabetes mellitus (100%, 100% and 46.4%), and CVD (100%, 97.73%, and 38.1%), in comparison to the controls (6.18%). From the findings of the present study, it can be concluded that diabetes mellitus, CVD, and respiratory disease are associated with a higher severity of periodontal disease.

A cross-sectional survey to study the relationship of periodontal disease with cardiovascular disease, respiratory disease, and diabetes mellitus

Directory of Open Access Journals (Sweden)

Sukhvinder Singh Oberoi

2016-01-01

Full Text Available Background: Periodontal deterioration has been reported to be associated with systemic diseases such as cardiovascular disease (CVD, diabetes mellitus, respiratory disease, liver cirrhosis, bacterial pneumonia, nutritional deficiencies, and adverse pregnancy outcomes. Aim: The present study assessed the periodontal disease among patients with systemic conditions such as diabetes, CVD, and respiratory disease. Materials and Methods: The study population consisted of 220 patients each of CVD, respiratory disease, and diabetes mellitus, making a total of 660 patients in the systemic disease group. A control group of 340 subjects were also included in the study for comparison purpose. The periodontal status of the patients with these confirmed medical conditions was assessed using the community periodontal index of treatment needs (CPITNs index. Results: The prevalence of CPITN code 4 was found to be greater among the patients with respiratory disease whereas the mean number of sextants with score 4 was found to be greater among the patients with diabetes mellitus and CVD. The treatment need 0 was found to be more among the controls (1.18% whereas the treatment need 1, 2, and 3 were more among the patients with respiratory disease (100%, 97.73%, and 54.8%, diabetes mellitus (100%, 100% and 46.4%, and CVD (100%, 97.73%, and 38.1%, in comparison to the controls (6.18%. Conclusion: From the findings of the present study, it can be concluded that diabetes mellitus, CVD, and respiratory disease are associated with a higher severity of periodontal disease.

The integrated disease network.

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Sun, Kai; Buchan, Natalie; Larminie, Chris; Pržulj, Nataša

2014-11-01

The growing body of transcriptomic, proteomic, metabolomic and genomic data generated from disease states provides a great opportunity to improve our current understanding of the molecular mechanisms driving diseases and shared between diseases. The use of both clinical and molecular phenotypes will lead to better disease understanding and classification. In this study, we set out to gain novel insights into diseases and their relationships by utilising knowledge gained from system-level molecular data. We integrated different types of biological data including genome-wide association studies data, disease-chemical associations, biological pathways and Gene Ontology annotations into an Integrated Disease Network (IDN), a heterogeneous network where nodes are bio-entities and edges between nodes represent their associations. We also introduced a novel disease similarity measure to infer disease-disease associations from the IDN. Our predicted associations were systemically evaluated against the Medical Subject Heading classification and a statistical measure of disease co-occurrence in PubMed. The strong correlation between our predictions and co-occurrence associations indicated the ability of our approach to recover known disease associations. Furthermore, we presented a case study of Crohn's disease. We demonstrated that our approach not only identified well-established connections between Crohn's disease and other diseases, but also revealed new, interesting connections consistent with emerging literature. Our approach also enabled ready access to the knowledge supporting these new connections, making this a powerful approach for exploring connections between diseases.

Concomitant diseases and their effect on disease prognosis in Meniere's disease: diabetes mellitus identified as a negative prognostic factor.

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Pieskä, Teemu; Kotimäki, Jouko; Männikkö, Minna; Sorri, Martti; Hietikko, Elina

2018-01-01

To study comorbidities and their effect on the disease progression in Meniere's disease (MD). Retrospective study on 350 definite MD patients diagnosed according to AAO-HNS 1995 criteria using hospital records and postal questionnaire. The prevalence of migraine, hypothyroidism, allergies, coronary heart disease and autoimmune diseases was more common in MD patients than reported in the general population of Finland. Diabetes mellitus was associated with both more severe hearing impairment (p = .033) and more frequent vertigo (p = .028) in MD patients. The number of concomitant diseases was associated with more frequent vertigo (p = .021). A patient's concomitant diseases, especially diabetes, should be treated effectively because they might affect the progression of MD. Further studies on the effects of concomitant diseases on MD prognosis are needed.

Diagnostic usefulness of periIesional edema around intracerebral hemorrhage in predicting underlying causes

International Nuclear Information System (INIS)

Yim, Nam Yeol; Seo, Jeong Jin; Yoon, Woong; Shin, Sang Soo; Lim, Hyo Soon; Chung, Tae Woong; Jeong, Gwang Woo; Kang, Heoung Keun

2004-01-01

We attempted to evaluate the diagnostic usefulness of the degree of perilesional edema around intracerebral hematoma in predicting the underlying cause. This study included 54 patients with intracerebral hematoma for whom the underlying cause was confirmed by biopsy, radiological or clinical methods. Cases of subarachnoid hemorrhage, hemorrhagic transformation of cerebral infarction and intraventricular hemorrhage were excluded. The lesion size was defined as the average value of the longest axis and the axis perpendicular to this. The size of the perilesional edema was defined as the longest width of the edema. In all cases, the sizes of the lesion and edema were measured on the T2 weighted image. We defined the edema ratio as the edema size divided by the lesion size. 23 cases were diagnosed as intracerebral hemorrhage due to neoplastic conditions, such as metastasis (n=17), glioblastoma (n=5), hemangioblastoma (n=1). 31 cases were caused by non-neoplastic conditions, such as spontaneous hypertensive hemorrhage (n=23), arteriovenous malformation (n=4), cavernous angioma (n=3), and moya-moya disease (n=1). In fourteen cases, which were confirmed as malignant intracerebral hemorrhage, the edema ratio was more than 100%. Of the other cases, only 8 were confirmed as malignant intracerebral hemorrhage. It was found that the larger the edema ratio, the more malignant the intracerebral hemorrhage, and this result was statistically significant (p<0.001). Measurement of perilesional edema and the intracerebral hematoma ratio may be useful in predicting the underlying causes

Augmented reality-assisted bypass surgery: embracing minimal invasiveness.

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Cabrilo, Ivan; Schaller, Karl; Bijlenga, Philippe

2015-04-01

The overlay of virtual images on the surgical field, defined as augmented reality, has been used for image guidance during various neurosurgical procedures. Although this technology could conceivably address certain inherent problems of extracranial-to-intracranial bypass procedures, this potential has not been explored to date. We evaluate the usefulness of an augmented reality-based setup, which could help in harvesting donor vessels through their precise localization in real-time, in performing tailored craniotomies, and in identifying preoperatively selected recipient vessels for the purpose of anastomosis. Our method was applied to 3 patients with Moya-Moya disease who underwent superficial temporal artery-to-middle cerebral artery anastomoses and 1 patient who underwent an occipital artery-to-posteroinferior cerebellar artery bypass because of a dissecting aneurysm of the vertebral artery. Patients' heads, skulls, and extracranial and intracranial vessels were segmented preoperatively from 3-dimensional image data sets (3-dimensional digital subtraction angiography, angio-magnetic resonance imaging, angio-computed tomography), and injected intraoperatively into the operating microscope's eyepiece for image guidance. In each case, the described setup helped in precisely localizing donor and recipient vessels and in tailoring craniotomies to the injected images. The presented system based on augmented reality can optimize the workflow of extracranial-to-intracranial bypass procedures by providing essential anatomical information, entirely integrated to the surgical field, and help to perform minimally invasive procedures. Copyright © 2015 Elsevier Inc. All rights reserved.

Protocols and Results of Resident Neurosurgeon's Transfemoral Catheter Angiography Training Supervised by Neuroendovascular Specialists

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Shin, Dong-Seong; Yeo, Dong-Kyu; Hwang, Sun-Chul; Park, Sukh-Que

2013-01-01

Objective Transfemoral catheter angiography (TFCA) is a basic procedure in neurovascular surgery with increasing importance in surgical and non-invasive treatments. Unfortunately, resident neurosurgeons have relatively few opportunities to perform TFCA in most institutions. We report a method developed in our hospital for training resident neurosurgeons to perform TFCA and evaluate the efficacy of this training. Methods From May 2011 to September 2011, a total of 112 consecutive patients underwent TFCA by one resident neurosurgeon supervised by two neuroendovascular specialists. Patients who underwent elective diagnostic procedures were included in this study. Patients who underwent endovascular treatment were excluded. Demographic data, indications for TFCA, side of approach, number of selected arteries, and complications were analyzed. Results This study included 64 males and 48 females with a mean age of 51.6 (12-81) years. All procedures were performed in the angiography suite. Common indications for procedures were as follows: stroke-induced symptoms in 61 patients (54.5%), Moyamoya disease and arteriovenous malformation in 13 patients (11.6%), and unruptured intracranial aneurysm in eight patients (7.1%). Right and left femoral puncture was performed in 98.2% and 1.8% of patients, respectively. A total of 465 selective angiographies were performed without complications. Angiographic examination was performed on 4.15 vessels per patient. Conclusion TFCA can be performed safely by resident neurosurgeons based on anatomical study and a meticulous protocol under the careful supervision of neuroendovascular specialists. PMID:24175020

Initial experience in perfusion MR imaging of intracranial major artery occlusion with echo-planar technique

International Nuclear Information System (INIS)

Tsuchiya, Kazuhiro; Mizutani, Yoshiyuki; Inaoka, Sayuki; Hachiya, Junichi

1997-01-01

The purpose of this study was to evaluate the usefulness of perfusion MR imaging using a single-shot echo-planar technique in occlusion of intracranial main arteries. Our patient group consisted of 16 patients with internal carotid artery occlusion (n=9), Moyamoya disease (n=4), and middle cerebral artery occlusion (n=3). We performed the echo-planar perfusion studies with a 1.5-T unit using a free-induction-decay-type echo-planar sequence. With a bolus injection of Gd-DTPA, 30 consecutive scans were obtained at 10 sections every 2 seconds. The data were analyzed in three ways: a time-intensity curves in the territory of the involved artery (n=16); semiquantitative flow map of each section representing signal changes due to passage of Gd-DTPA (n=15); and serial images at a selected section (n=7). The time intensity curves were abnormal in 13 patients. The peak of signal drop was delayed in all of them. Flow maps showed focal flow abnormalities in 11 patients, but they were apparently normal in 4 patients probably due to collateral flow. In serial images, delay in appearance and/or disappearance of Gd-DTPA was noted in 6 patients. In patients with occlusion of intracranial main arteries, MR single-shot echo-planar technique is of clinical use because it can provide information about hemodynamic changes in a short examination time, in multiple sections, and with good temporal resolution. (author)

Pathophysiology and management of intracranial arterial stenosis around the circle of Willis associated with hyperthyroidism: case reports and literature review.

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Matano, Fumihiro; Murai, Yasuo; Adachi, Koji; Kitamura, Takayuki; Teramoto, Akira

2014-04-01

Cases of moyamoya disease or intracranial arterial stenosis around the circle of Willis (M/IAS) associated with hyperthyroidism have been reported. However, most of these previous reports were of the ischemic form of M/IAS and primary hyperthyroidism. To the best of our knowledge, no studies have documented therapy for M/IAS associated with hyperthyroidism. We discuss four previously unreported cases, including those involving the intracerebral hemorrhage form and thyroid-stimulating hormone (TSH) secretion from a pituitary adenoma (secondary hyperthyroidism). We analyzed data from 52 previously reported cases, including the 4 cases presented here, and discuss M/IAS associated with hyperthyroidism, treatment options, pathophysiology, the ischemic and hemorrhagic forms, secondary hyperthyroidism, and the relevant literature. Hyperthyroidism results in thyrotoxicosis and the stimulation of the superior cervical ganglion by TSH antibodies and f-T3/f-T4. Consequently, hypercoagulability and stenosis of the cerebral artery can occur. There are many reports of ischemic M/IAS associated with hyperthyroidism. A conservative approach to treatment is important in such cases; for example, antithyroid therapy should be the first choice to treat ischemic M/IAS. There have been only a limited number of reports on hemorrhagic M/IAS. We presume that hemorrhagic M/IAS tears the weakened vasculature in a manner similar to that of normal M/IAS (with no complicating hyperthyroidism). The authors also reported M/IAS associated with secondary hyperthyroidism due to pituitary thyroid secreting hormone secreting adenoma.

Strokes In Young Adults And Children

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Farhad Iranmanesh

2017-02-01

Full Text Available Stroke is in second place on a mortality list in the world. Also, stroke is a leading cause of disability. Approximately 20% of all strokes occur in Children and young adults. The etiology of stroke in Children and young adults is different from that in older patients, and has an influence on diagnostic evaluation and treatment, so knowledge about older patients cannot always be applied to these patients. The list of stroke etiologies among young adults and children is extensive. Ischemic stroke are more frequent than hemorrhagic strokes in both groups. Stroke in young adults had been thought to be associated with   risk factors, including arterial (such as dissection, reversible cerebral vasoconstriction syndrome, inflammatory arteritis ,moyamoya ,migraine - induced stroke, genetic or inherted arteriopathy, premature atherosclerosis cardiac (such as patent foramen ovale, cardiomyopathy , congenital heart disease and   hematologic (such as  deficiencies of protein S,protein C,or antithrombin;factor V lieden mutation . Common risk factors for stroke in children include: Sickle-cell disease, diseases of the arteries, abnormal blood clotting, head or neck trauma. There are no specific recommendations or guidelines for primary or secondary stroke prevention in young adults. Primary prevention focused on identifying and managing known vascular risk factors, such as hypertension, disorders of lipid metabolism, and diabetes, and non-drug strategies and lifestyle changes, including smoking, reducing body weight, increasing regular aerobic physical activity, and adopting a healthy diet with more fruit and vegetables and less salt. For secondary stroke prevention, identification of the etiologic mechanism of the initial stroke and the presence of any additional risk factors is most important. It consists of optimal treatment of vascular risk factors administering antiplatelet or anticoagulant therapy, and if indicated, invasive surgical or

Esophageal involvement and interstitial lung disease in mixed connective tissue disease.

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Fagundes, M N; Caleiro, M T C; Navarro-Rodriguez, T; Baldi, B G; Kavakama, J; Salge, J M; Kairalla, R; Carvalho, C R R

2009-06-01

Mixed connective tissue disease is a systemic inflammatory disorder that results in both pulmonary and esophageal manifestations. We sought to evaluate the relationship between esophageal dysfunction and interstitial lung disease in patients with mixed connective tissue disease. We correlated the pulmonary function data and the high-resolution computed tomography findings of interstitial lung disease with the results of esophageal evaluation in manometry, 24-hour intraesophageal pH measurements, and the presence of esophageal dilatation on computed tomography scan. Fifty consecutive patients with mixed connective tissue disease, according to Kasukawa's classification criteria, were included in this prospective study. High-resolution computed tomography parenchymal abnormalities were present in 39 of 50 patients. Esophageal dilatation, gastroesophageal reflux, and esophageal motor impairment were also very prevalent (28 of 50, 18 of 36, and 30 of 36, respectively). The presence of interstitial lung disease on computed tomography was significantly higher among patients with esophageal dilatation (92% vs. 45%; pmotor dysfunction (90% vs. 35%; pesophageal and pulmonary involvement, our series revealed a strong association between esophageal motor dysfunction and interstitial lung disease in patients with mixed connective tissue disease.

[Infectious diseases research].

Science.gov (United States)

Carratalà, Jordi; Alcamí, José; Cordero, Elisa; Miró, José M; Ramos, José Manuel

2008-12-01

There has been a significant increase in research activity into infectious diseases in Spain in the last few years. The Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC) currently has ten study groups, with the cooperation of infectious diseases specialists and microbiologists from different centres, with significant research activity. The program of Redes Temáticas de Investigación Cooperativa en Salud (Special Topics Cooperative Health Research Networks) is an appropriate framework for the strategic coordination of research groups from the Spanish autonomous communities. The Spanish Network for Research in Infectious Diseases (REIPI) and the Network for Research in AIDS (RIS) integrate investigators in Infectious Diseases from multiple groups, which continuously perform important research projects. Research using different experimental models in infectious diseases, in numerous institutions, is an important activity in our country. The analysis of the recent scientific production in Infectious Diseases shows that Spain has a good position in the context of the European Union. The research activity in Infectious Diseases carried out in our country is a great opportunity for the training of specialists in this area of knowledge.

Human Environmental Disease Network

DEFF Research Database (Denmark)

Taboureau, Olivier; Audouze, Karine

2017-01-01

During the past decades, many epidemiological, toxicological and biological studies have been performed to assess the role of environmental chemicals as potential toxicants for diverse human disorders. However, the relationships between diseases based on chemical exposure have been rarely studied...... by computational biology. We developed a human environmental disease network (EDN) to explore and suggest novel disease-disease and chemical-disease relationships. The presented scored EDN model is built upon the integration on systems biology and chemical toxicology using chemical contaminants information...... and their disease relationships from the reported TDDB database. The resulting human EDN takes into consideration the level of evidence of the toxicant-disease relationships allowing including some degrees of significance in the disease-disease associations. Such network can be used to identify uncharacterized...

Skin diseases: prevalence and predictors of itch and disease severity.

NARCIS (Netherlands)

Verhoeven, E.W.M.

2009-01-01

Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General

Responsiveness of Endoscopic Indices of Disease Activity for Crohn's Disease

NARCIS (Netherlands)

Khanna, Reena; Zou, Guangyong; Stitt, Larry; Feagan, Brian G.; Sandborn, William J.; Rutgeerts, Paul; McDonald, John W. D.; Dubcenco, Elena; Fogel, Ronald; Panaccione, Remo; Jairath, Vipul; Nelson, Sigrid; Shackelton, Lisa M.; Huang, Bidan; Zhou, Qian; Robinson, Anne M.; Levesque, Barrett G.; D'Haens, Geert

2017-01-01

The Crohn's Disease Endoscopic Index of Severity (CDEIS) and the Simple Endoscopic Score for Crohn's Disease (SES-CD) are commonly used to assess Crohn's disease (CD) activity; however neither instrument is fully validated. We evaluated the responsiveness to change of the SES-CD and CDEIS using data

AACE/ACE Disease State Clinical Review: Medical Management of Cushing Disease.

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Hamrahian, Amir H; Yuen, Kevin C J; Hoffman, Andrew R

2014-07-01

To review available medical therapies for patients with Cushing disease and to provide a roadmap for their use in clinical practice. PubMed searches were performed to identify all of the available published data on medical management of Cushing disease. Medical therapy is usually not the first-line treatment for patients with Cushing disease but may be used to improve clinical manifestations of Cushing disease in patients who are not suitable candidates for surgery, following unsuccessful surgery or recurrence, or as a "bridge therapy" in those who have undergone radiotherapy. Medical therapy may also be used in preoperative preparation of patients with severe disease. Current available medical options for patients with Cushing disease include centrally acting agents, steroidogenesis inhibitors, and a glucocorticoid receptor antagonists. At present, there are no head-to-head studies comparing the efficacy, tolerability, and safety of different U.S. Food and Drug Administration (FDA)- and non-FDA-approved drugs in patients with Cushing disease. With the initiation of new studies and the completion of ongoing clinical trials, the number of FDA-approved drugs for medical treatment of Cushing disease is expected to increase. Medical therapy has an important adjunctive role in the management of patients with Cushing disease. The decision to initiate medical treatment depends on many factors, including patient characteristics and preference. Long-term studies are needed to better define the clinical efficacy, safety, and tolerability of medical treatment of Cushing disease, including the role of combination therapies.

DOSim: An R package for similarity between diseases based on Disease Ontology

Science.gov (United States)

2011-01-01

Background The construction of the Disease Ontology (DO) has helped promote the investigation of diseases and disease risk factors. DO enables researchers to analyse disease similarity by adopting semantic similarity measures, and has expanded our understanding of the relationships between different diseases and to classify them. Simultaneously, similarities between genes can also be analysed by their associations with similar diseases. As a result, disease heterogeneity is better understood and insights into the molecular pathogenesis of similar diseases have been gained. However, bioinformatics tools that provide easy and straight forward ways to use DO to study disease and gene similarity simultaneously are required. Results We have developed an R-based software package (DOSim) to compute the similarity between diseases and to measure the similarity between human genes in terms of diseases. DOSim incorporates a DO-based enrichment analysis function that can be used to explore the disease feature of an independent gene set. A multilayered enrichment analysis (GO and KEGG annotation) annotation function that helps users explore the biological meaning implied in a newly detected gene module is also part of the DOSim package. We used the disease similarity application to demonstrate the relationship between 128 different DO cancer terms. The hierarchical clustering of these 128 different cancers showed modular characteristics. In another case study, we used the gene similarity application on 361 obesity-related genes. The results revealed the complex pathogenesis of obesity. In addition, the gene module detection and gene module multilayered annotation functions in DOSim when applied on these 361 obesity-related genes helped extend our understanding of the complex pathogenesis of obesity risk phenotypes and the heterogeneity of obesity-related diseases. Conclusions DOSim can be used to detect disease-driven gene modules, and to annotate the modules for functions and

Lyme disease and post-treatment Lyme disease syndrome: the neglected disease in our own backyard.

Science.gov (United States)

Crowder, L A; Yedlin, V A; Weinstein, E R; Kortte, K B; Aucott, J N

2014-09-01

A survey was developed to assess experience and opinions about Lyme disease and post-treatment Lyme disease syndrome (PTLDS) among faculties in public health. No previous surveys of public health faculties have been found in the literature. This is a cross sectional study of public health school faculty members designed to measure knowledge and experience with Lyme disease and PTLDS using an internet survey instrument. Participants were recruited using all the publicly available e-mail addresses of faculty members in all the 50 accredited Schools of Public Health in the United States. A 15% response rate was seen for the survey. 50% of respondents were from Lyme endemic states. Less than 5% of faculty members consider themselves expert in Lyme or PTLDS. Many faculty members had known someone with Lyme disease or PTLDS, but few had been diagnosed themselves. Most believe that PTLDS can be severe and chronic, is not easy to treat, and does not resolve on its own, but were uncertain about its aetiology. Most respondents also felt that the incidence of Lyme disease will increase and that more education is needed. The need for further understanding and communication presents an opportunity for public health research and education in Lyme disease and the sequelae of PTLDS. Copyright © 2014 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

Interaction of lifestyle, behaviour or systemic diseases with dental caries and periodontal diseases

DEFF Research Database (Denmark)

Chapple, Iain L C; Bouchard, Philippe; Cagetti, Maria Grazia

2017-01-01

Periodontal diseases and dental caries are the most common diseases of humans and the main cause of tooth loss. Both diseases can lead to nutritional compromise and negative impacts upon self-esteem and quality of life. As complex chronic diseases, they share common risk factors, such as a requir......Periodontal diseases and dental caries are the most common diseases of humans and the main cause of tooth loss. Both diseases can lead to nutritional compromise and negative impacts upon self-esteem and quality of life. As complex chronic diseases, they share common risk factors...... to periodontal diseases and caries susceptibility, with an attributable risk estimated to be up to 50%. The genetics literature for periodontal disease is more substantial than for caries and genes associated with chronic periodontitis are the vitamin D receptor (VDR), Fc gamma receptor IIA (Fc...... or composition, smoking, carbohydrate intake). Identification of these factors is crucial in the prevention of both diseases as well as in their management. AIM: To systematically appraise the scientific literature to identify potential risk factors for caries and periodontal diseases. METHODS: One systematic...

Parkinson disease - discharge

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Your doctor has told you that you have Parkinson disease . This disease affects the brain and leads ... have you take different medicines to treat your Parkinson disease and many of the problems that may ...

Pediatric Celiac Disease

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... a protein found in wheat, rye, and barley. Pediatric Celiac Disease If your child has celiac disease, ... physician. Established by the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) Celiac Disease Eosinophilic ...

Lyme Disease Data

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... materials Why is CDC concerned about Lyme disease? Data and Statistics Recommend on Facebook Tweet Share Compartir ... sixth most common Nationally Notifiable disease . Lyme Disease Data File To facilitate the public health and research ...

Spreading disease: a controversy concerning the metaphysics of disease.

Science.gov (United States)

D'Amico, R

1998-01-01

This article concerns the metaphysics of disease. Is disease a fixed feature of the world or a social value or preference? I argue that disease is not a value-laden concept and thus debates concerning it differ fundamentally from debates concerning health, harm, or suffering where evaluative judgements are central. I show how the so-called social constructionist view of disease has been motivated both by ethical concerns with medical practices and general theoretical doubts about scientific naturalism. If I can show that ethical concerns about medical treatment can be answered without adopting social constructionism, that leaves only the broader theoretical question of naturalism. I cannot completely answer those theoretical doubts, but I show that the theoretical motivation is less convincing when it is separated from the moral challenge often accompanying it. I conclude that a convincing defense of the non-naturalistic conception of disease is rarely attempted and proves more difficult and counter-intuitive than its proponents assume.

CT findings of diffuse pleural diseases: differentiation of malignant disease from tuberculosis

International Nuclear Information System (INIS)

Roh, In Gye; Kook, Shin Ho; Lee, Young Rae; Chin, Seung Bum; Park, Yoon Ok; Park, Hae Won

1997-01-01

To evaluate whether or not previously known CT criteria for differentiating malignant and benign pleural diseases are useful in the differentiation of diffuse malignant pleural diseases and tuberculosis. We retrospectively analyzed CT scans of 42 patients comprising 20 cases of malignant pleural diseases and 22 cases of tuberculous pleural diseases, according to previously known CT criteria for differentiating malignant and benign pleural diseases. The most common shape of pleural effusion was crescentic in malignant pleural diseases and loculated in tuberculosis. The aggressive nature of pleural effusion, pleural rind, and pleura thickening was 1.5 times more frequently observed in malignant pleural diseases than in tuberculosis. Smooth thickening or smooth nodular pleural thickening and extrapleural deposition of fat were 1.5 times more frequently found in tuberculous than in malignant pleural diseases. Interruption of pleural thickening was found twice as frequently in malignant pleural diseases as in tuberculosis. Decreased lung volume was found twice as frequently in tuberculous as in malignant pleural diseases. Anatomical mediastinal pleural involvement was three times, and irregular nodular pleural thickening nine times more frequent in malignant pleural diseases than in tuberculosis. The sensitivity and specificity of CT findings above 70%, and thus suggesting malignant pleural diseases, were as follows : 1) aggressive nature of pleural fluid collection extending to the azygoesophageal recess or tongue of the lung (51.5%, 75%); 2) involvement of anatomical mediastinal pleura (69.2%, 73.7%); 3) irregular nodular pleural thickening (87.5%, 69%). Although there in overlap between previously known CT criteria for the differentiation of benign and malignant pleural diseases, the aggressive nature of pleural fluid collection extending to the azygoesophageal recess or tongue of the lung, the involvement of anatomical mediastinal pleura and irregular nodular

Hereditary neuromuscular diseases

Energy Technology Data Exchange (ETDEWEB)

Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

2001-12-01

This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

Disease burden of infectious diseases in Europe: a pilot study

NARCIS (Netherlands)

Lier EA van; Havelaar AH; LZO

2007-01-01

Consequences of different infectious diseases cannot be adequately compared with each other on the basis of the number of patients or mortality data only. It is better to combine all health effects and express the total impact as disease burden, which also takes duration and severity of diseases

Biomarker for Glycogen Storage Diseases

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2017-07-03

Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII

Degenerative Nerve Diseases

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Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many ... viruses. Sometimes the cause is not known. Degenerative nerve diseases include Alzheimer's disease Amyotrophic lateral sclerosis Friedreich's ...

Understanding cardiovascular disease

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... page: //medlineplus.gov/ency/patientinstructions/000759.htm Understanding cardiovascular disease To use the sharing features on this page, ... lead to heart attack or stroke. Types of Cardiovascular Disease Coronary heart disease (CHD) is the most common ...

Lyme disease (image)

Science.gov (United States)

Lyme disease is an acute inflammatory disease characterized by skin changes, joint inflammation and symptoms similar to the ... that is caused by the bacterium Borrelia burgdorferi . Lyme disease is transmitted by the bite of a deer ...

Parkinson's Disease Videos

Medline Plus

Full Text Available ... Expert Briefings: Anxiety in Parkinson's Disease Expert Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ... Briefings: What's in the Parkinson's Pipeline? Expert Briefings: Nutrition and Parkinson's Disease 2010 Expert Briefings: Legal Issues: ...

Gene therapy for CNS diseases – Krabbe disease

Directory of Open Access Journals (Sweden)

Mohammad A. Rafi

2016-06-01

Full Text Available This is a brief report of the 19th Annual Meeting of the American Society of Gene and Cell Therapy that took place from May 4th through May 7th, 2016 in Washington, DC, USA. While the meeting provided many symposiums, lectures, and scientific sessions this report mainly focuses on one of the sessions on the "Gene Therapy for central nervous system (CNS Diseases" and specifically on the "Gene Therapy for the globoid cell leukodystrophy or Krabbe disease. Two presentations focused on this subject utilizing two animal models of this disease: mice and dog models. Different serotypes of adeno-associate viral vectors (AAV alone or in combination with bone marrow transplantations were used in these research projects. The Meeting of the ASGCT reflected continuous growth in the fields of gene and cell therapy and brighter forecast for efficient treatment options for variety of human diseases.

Parkinson's Disease Videos

Medline Plus

Full Text Available ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Overview of Parkinson's ... Disease? What Are Some Strategies to Improve the Quality of Community Care for PD Patients? CareMAP: Dealing ...

Parkinson's Disease Videos

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Full Text Available ... Does Caregiving Change from Day to Day? Unconditional Love How Does Parkinson's Disease Affect the Urinary System? ... Mind Guide to Parkinson's Disease Guide to Deep Brain Stimulation Sleep: A Mind Guide to Parkinson’s Disease ...

Parkinson's Disease Videos

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Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... Conference: Lessons Learned How Does the DBS Device Work? OHSU - Parkinson's Disease: Managing Depression, Anxiety & Psychosis CareMAP: ...

Parkinson's Disease Videos

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Full Text Available ... Tips for Care Partners Nurse Webinars: Nursing Solutions: Innovations in PD Nurse Education CareMAP: Managing Advanced Parkinson's ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis How Is Parkinson's Disease ...

Tay-Sachs Disease

Science.gov (United States)

Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too ... cells, causing mental and physical problems. . Infants with Tay-Sachs disease appear to develop normally for the first few ...

Quiz: Alzheimer's Disease

Science.gov (United States)

... of this page please turn JavaScript on. Feature: Alzheimer's Disease Quiz: Alzheimer's Disease Past Issues / Winter 2015 Table of Contents ... How many Americans over age 65 may have Alzheimer's disease? as many as 5 million as many ...

Tick-borne disease.

Science.gov (United States)

Bratton, Robert L; Corey, Ralph

2005-06-15

Tick-borne diseases in the United States include Rocky Mountain spotted fever, Lyme disease, ehrlichiosis, tularemia, babesiosis, Colorado tick fever, and relapsing fever. It is important for family physicians to consider these illnesses when patients present with influenza-like symptoms. A petechial rash initially affecting the palms and soles of the feet is associated with Rocky Mountain spotted fever, whereas erythema migrans (annular macule with central clearing) is associated with Lyme disease. Various other rashes or skin lesions accompanied by fever and influenza-like illness also may signal the presence of a tick-borne disease. Early, accurate diagnosis allows treatment that may help prevent significant morbidity and possible mortality. Because 24 to 48 hours of attachment to the host are required for infection to occur, early removal can help prevent disease. Treatment with doxycycline or tetracycline is indicated for Rocky Mountain spotted fever, Lyme disease, ehrlichiosis, and relapsing fever. In patients with clinical findings suggestive of tick-borne disease, treatment should not be delayed for laboratory confirmation. If no symptoms follow exposure to tick bites, empiric treatment is not indicated. The same tick may harbor different infectious pathogens and transmit several with one bite. Advising patients about prevention of tick bites, especially in the summer months, may help prevent exposure to dangerous vector-borne diseases.

INTRACRANIAL HYDATID DISEASE: IMAGING FINDINGS OF A RARE DISEASE

Directory of Open Access Journals (Sweden)

idil Gunes Tatar

2014-06-01

Full Text Available Hydatid disease is caused by the larval stage of the parasite Echinococcus granulosus. It is mainly endemic in North African and Mediterranean countries. The disease usually manifests in liver and lungs although involvement of other organs are also seen. In this rare case intracranial hydatid disease in a 9-year-old female patient is presented with Magnetic Resonance Imaging findings. [J Contemp Med 2014; 4(2.000: 103-105

Stargardt Disease

Science.gov (United States)

... Stargardt disease, lipofuscin accumulates abnormally. The Foundation Fighting Blindness supports research studying lipofuscin build up and ways to prevent it. A decrease in color perception also occurs in Stargardt disease. This is ...

Prevalence and overlap of Disease Management Program diseases in older hospitalized patients

DEFF Research Database (Denmark)

Juul-Larsen, Helle Gybel; Petersen, Janne; Sivertsen, Ditte Maria

2017-01-01

Many countries, like Denmark, have tailored Disease Management Programs (DMPs) based on patients having single chronic diseases [defined institutionally as "program diseases" (PDs)], which can complicate treatment for those with multiple chronic diseases. The aims of this study were (a) to assess...... the prevalence and overlap among acutely hospitalized older medical patients of PDs defined by the DMPs, and (b) to examine transitions between different departments during hospitalization and mortality and readmission within two time intervals among patients with the different PDs. We conducted a registry study...... of 4649 acutely hospitalized medical patients ≥65 years admitted to Copenhagen University Hospital, Hvidovre, Denmark, in 2012, and divided patients into six PD groups (type 2 diabetes, chronic obstructive pulmonary disease, cardiovascular disease, musculoskeletal disease, dementia and cancer), each...

Using internet search queries for infectious disease surveillance: screening diseases for suitability.

Science.gov (United States)

Milinovich, Gabriel J; Avril, Simon M R; Clements, Archie C A; Brownstein, John S; Tong, Shilu; Hu, Wenbiao

2014-12-31

Internet-based surveillance systems provide a novel approach to monitoring infectious diseases. Surveillance systems built on internet data are economically, logistically and epidemiologically appealing and have shown significant promise. The potential for these systems has increased with increased internet availability and shifts in health-related information seeking behaviour. This approach to monitoring infectious diseases has, however, only been applied to single or small groups of select diseases. This study aims to systematically investigate the potential for developing surveillance and early warning systems using internet search data, for a wide range of infectious diseases. Official notifications for 64 infectious diseases in Australia were downloaded and correlated with frequencies for 164 internet search terms for the period 2009-13 using Spearman's rank correlations. Time series cross correlations were performed to assess the potential for search terms to be used in construction of early warning systems. Notifications for 17 infectious diseases (26.6%) were found to be significantly correlated with a selected search term. The use of internet metrics as a means of surveillance has not previously been described for 12 (70.6%) of these diseases. The majority of diseases identified were vaccine-preventable, vector-borne or sexually transmissible; cross correlations, however, indicated that vector-borne and vaccine preventable diseases are best suited for development of early warning systems. The findings of this study suggest that internet-based surveillance systems have broader applicability to monitoring infectious diseases than has previously been recognised. Furthermore, internet-based surveillance systems have a potential role in forecasting emerging infectious disease events, especially for vaccine-preventable and vector-borne diseases.

Chronic kidney disease

African Journals Online (AJOL)

disease, together with other related non -communicable diseases. (NCDs), poses not only a threat ... but because if we do not act against NCDs we will also be increasing individual and ... respiratory diseases and cancer. This is in recognition ...

Parkinson's Disease Videos

Medline Plus

Full Text Available ... We Walk at Moving Day CareMAP: Managing Caregiver Stress Aware in Care: Real Stories CareMAP: End-of- ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Overview of Parkinson's Disease ...

Parkinson's Disease Videos

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Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... and Parkinson's Disease? Hallucinations and Delusions CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 ...

Parkinson's Disease Videos

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Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... Foundation How Is Parkinson's Disease Diagnosed? CareMAP: Balancing Life and Caregiving CareMAP: Travel and Transportation: Part 1 ...

Parkinson's Disease Videos

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Full Text Available ... Parkinson's Disease: One Voice, Many Listeners Expert Briefings: Medical Therapies: What's in the Parkinson's Pipeline? Expert Briefings: Under-recognized Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ...

Addison′s disease

OpenAIRE

Soumya Brata Sarkar; Subrata Sarkar; Supratim Ghosh; Subhankar Bandyopadhyay

2012-01-01

Addison's disease is a rare endocrinal disorder, with several oral and systemic manifestations. A variety of pathological processes may cause Addison's disease. Classically, hyperpigmentation is associated with the disease, and intraoral pigmentation is perceived as the initial sign and develops earlier than the dermatological pigmentation. The symptoms of the disease usually progress slowly and an event of illness or accident can make the condition worse and may lead to a life-threatening cr...

[Tick-borne diseases].

Science.gov (United States)

Tissot Dupont, H; Raoult, D

1993-05-01

Due to their worldwide distribution, from hottest to coldest climates, and due to their behaviour, ticks are capable of transmitting numerous human and animal bacterial viral or parasitous diseases. Depending on the disease, they play the role of biological vector or intermediate host. In France, six tick borne diseases are of epidemiologic importance. Q fever (not often tick-borne), Mediterranean Spotted Fever, Lyme disease, Turalemia (human and animal), Babesiosis and Tick-borne Viral Encephalitis.

Staphylococcal disease in Africa: another neglected 'tropical' disease

NARCIS (Netherlands)

Herrmann, Mathias; Abdullah, Salim; Alabi, Abraham; Alonso, Pedro; Friedrich, Alexander W.; Fuhr, Günther; Germann, Anja; Kern, Winfried V.; Kremsner, Peter G.; Mandomando, Inacio; Mellmann, Alexander C.; Pluschke, Gerd; Rieg, Siegbert; Ruffing, Ulla; Schaumburg, Frieder; Tanner, Marcel; Peters, Georg; von Briesen, Hagen; von Eiff, Christof; von Müller, Lutz; Grobusch, Martin P.

2013-01-01

The term 'neglected tropical diseases' predominantly refers to single-entity, mostly parasitic diseases. However, a considerable morbidity and mortality burden is carried by patients infected with Gram-positive cocci and Gram-negative bacilli that are prevalent all over the world, yet have impact in

Staphylococcal disease in Africa : another neglected 'tropical' disease

NARCIS (Netherlands)

Herrmann, Mathias; Abdullah, Salim; Alabi, Abraham; Alonso, Pedro; Friedrich, Alexander W.; Fuhr, Guenther; Germann, Anja; Kern, Winfried V.; Kremsner, Peter G.; Mandomando, Inacio; Mellmann, Alexander C.; Pluschke, Gerd; Rieg, Siegbert; Ruffing, Ulla; Schaumburg, Frieder; Tanner, Marcel; von Briesen, Hagen; von Eiff, Christof; von Mueller, Lutz; Grobusch, Martin P.; Peters, Georg

The term 'neglected tropical diseases' predominantly refers to single-entity, mostly parasitic diseases. However, a considerable morbidity and mortality burden is carried by patients infected with Gram-positive cocci and Gram-negative bacilli that are prevalent all over the world, yet have impact in

Addison's disease secondary to connective tissue diseases: a report of six cases.

Science.gov (United States)

Zhang, Zhuo-li; Wang, Yu; Zhou, Wei; Hao, Yan-jie

2009-04-01

Addison's disease is an autoimmune process. However, Addison's disease associated with connective tissue diseases (CTD) is only occasionally reported. Here, we report six cases of Addison's disease secondary to a variety of CTD, which include systemic lupus erythematosus, Takayasu arteritis, systemic sclerosis, ankylosing spondylitis (AS) and antiphospholipid antibody syndrome. The association of Addison's disease with Takayasu arteritis and AS is reported for the first time. We also found high prevalence of hypothyroidism as concomitant autoimmune disorder. Our case series highlight the autoimmune features of Addison's disease. Therefore, we suggest considering adrenal dysfunction in patients with CTD.

Liver disease

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/000205.htm Liver disease To use the sharing features on this page, please enable JavaScript. The term "liver disease" applies to many conditions that stop the ...

Heart disease and diet

Science.gov (United States)

Diet - heart disease; CAD - diet; Coronary artery disease - diet; Coronary heart disease - diet ... diet and lifestyle can reduce your risk of: Heart disease, heart attacks, and stroke Conditions that lead ...

Morgellons Disease

OpenAIRE

Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han

2017-01-01

Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination sho...

Hirschsprung disease.

Science.gov (United States)

Haricharan, Ramanath N; Georgeson, Keith E

2008-11-01

Hirschsprung disease is a relatively common condition managed by pediatric surgeons. Significant advances have been made in understanding its etiologies in the last decade, especially with the explosion of molecular genetic techniques and early diagnosis. The surgical management has progressed from a two- or three-stage procedure to a primary operation. More recently, definitive surgery for Hirschsprung disease through minimally invasive techniques has gained popularity. In neonates, the advancement of treatment strategies for Hirschsprung disease continues with reduced patient morbidity and improved outcomes.

Dent's disease

Directory of Open Access Journals (Sweden)

Thakker Rajesh V

2010-10-01

Full Text Available Abstract Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to date. Complications such as rickets or osteomalacia may occur. The disease is caused by mutations in either the CLCN5 (Dent disease 1 or OCRL1 (Dent disease 2 genes that are located on chromosome Xp11.22 and Xq25, respectively. CLCN5 encodes the electrogenic Cl-/H+ exchanger ClC-5, which belongs to the CLC family of Cl- channels/transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2 5-phosphatase and mutations are also associated with Lowe Syndrome. The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney. No genotype-phenotype correlation has been described thus far, and there is considerable intra-familial variability in disease severity. A few patients with Dent's disease do not harbour mutations in CLCN5 and OCRL1, pointing to the involvement of other genes. Diagnosis is based on the presence of all three of the following criteria: low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia or renal insufficiency. Molecular genetic testing confirms the diagnosis. The differential diagnosis includes other causes of generalized dysfunction of the proximal tubules (renal Fanconi syndrome, hereditary, acquired, or caused by exogenous substances. Antenatal diagnosis and pre-implantation genetic testing is not advised. The care of patients with Dent's disease is supportive, focusing on the treatment of hypercalciuria and

DISEASES: text mining and data integration of disease-gene associations.

Science.gov (United States)

Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi; Binder, Janos X; Jensen, Lars Juhl

2015-03-01

Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases. The DISEASES resource is accessible through a web interface at http://diseases.jensenlab.org/, where the text-mining software and all associations are also freely available for download. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Gallstone disease and mortality

DEFF Research Database (Denmark)

Shabanzadeh, Daniel Mønsted; Sørensen, Lars Tue; Jørgensen, Torben

2017-01-01

OBJECTIVES: The objective of this cohort study was to determine whether subjects with gallstone disease identified by screening of a general population had increased overall mortality when compared to gallstone-free participants and to explore causes of death. METHODS: The study population (N...... built. RESULTS: Gallstone disease was present in 10%. Mortality was 46% during median 24.7 years of follow-up with 1% lost. Overall mortality and death from cardiovascular diseases were significantly associated to gallstone disease. Death from unknown causes was significantly associated to gallstone...... disease and death from cancer and gastrointestinal disease was not associated. No differences in mortality for ultrasound-proven gallstones or cholecystectomy were identified. CONCLUSIONS: Gallstone disease is associated with increased overall mortality and to death from cardiovascular disease. Gallstones...

Gaucher Disease

Science.gov (United States)

Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you ... affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types ...

Liver Diseases

Science.gov (United States)

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: Diseases caused by viruses, such as hepatitis ...

Sandhoff Disease

Science.gov (United States)

... which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease ... which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease ...

Coeliac disease

DEFF Research Database (Denmark)

Reilly, Norelle R; Husby, Steffen; Sanders, David S

2018-01-01

Coeliac disease is increasingly recognized as a global problem in both children and adults. Traditionally, the findings of characteristic changes of villous atrophy and increased intraepithelial lymphocytosis identified in duodenal biopsy samples taken during upper gastrointestinal endoscopy have...... been required for diagnosis. Although biopsies remain advised as necessary for the diagnosis of coeliac disease in adults, European guidelines for children provide a biopsy-sparing diagnostic pathway. This approach has been enabled by the high specificity and sensitivity of serological testing. However......, these guidelines are not universally accepted. In this Perspective, we discuss the pros and cons of a biopsy-avoiding pathway for the diagnosis of coeliac disease, especially in this current era of the call for more biopsies, even from the duodenal bulb, in the diagnosis of coeliac disease. In addition, a contrast...

Quiz: Alzheimer's Disease Quiz | Alzheimer's disease | NIH MedlinePlus the Magazine

Science.gov (United States)

... of this page please turn Javascript on. Feature: Alzheimer's Disease Quiz: Alzheimer's Disease Quiz Past Issues / Fall 2010 Table of ... How many people in the United States have Alzheimer's disease? as many as 5.1 million as ...

Parkinson's Disease Videos

Medline Plus

Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping ... How Does Parkinson's Disease Affect Memory? CareMAP: Balancing Life and Caregiving CareMAP: La Alimentación y la Deglución, ...

Peptic Ulcer Disease

Science.gov (United States)

... Site ACG Patients Home / Digestive Health Topic / Peptic Ulcer Disease Peptic Ulcer Disease Basics Overview An “ulcer” is an open ... for pain in patients at risk for peptic ulcer disease. Peptic – caused by acid. PPIs – P roton P ump ...

Alzheimer disease

Science.gov (United States)

... likely need to plan for their loved one's future care. The final phase of the disease may ... disease and other dementias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: ...

Celiac disease and other autoimmune diseases in patients with collagenous colitis.

Science.gov (United States)

Vigren, Lina; Tysk, Curt; Ström, Magnus; Kilander, Anders F; Hjortswang, Henrik; Bohr, Johan; Benoni, Cecilia; Larson, Lasse; Sjöberg, Klas

2013-08-01

Collagenous colitis (CC) is associated with autoimmune disorders. The aim of the present study was to investigate the relationship between CC and autoimmune disorders in a Swedish multicenter study. Patients with CC answered questionnaires about demographic data and disease activity. The patient's files were scrutinized for information about autoimmune diseases. A total number of 116 CC patients were included; 92 women, 24 men, median age 62 years (IQR 55-73). In total, 30.2% had one or more autoimmune disorder. Most common were celiac disease (CeD; 12.9%) and autoimmune thyroid disease (ATD, 10.3%), but they also had Sjögren's syndrome (3.4%), diabetes mellitus (1.7%) and conditions in skin and joints (6.0%). Patients with associated autoimmune disease had more often nocturnal stools. The majority of the patients with associated CeD or ATD got these diagnoses before the colitis diagnosis. Autoimmune disorders occurred in one-third of these patients, especially CeD. In classic inflammatory bowel disease (IBD), liver disease is described in contrast to CC where no cases occurred. Instead, CeD was prevalent, a condition not reported in classic IBD. Patients with an associated autoimmune disease had more symptoms. Patients with CC and CeD had an earlier onset of their colitis. The majority of the patients with both CC and CeD were smokers. Associated autoimmune disease should be contemplated in the follow-up of these patients.

Coronary artery disease in patients with cerebrovascular disease: a prospective study

International Nuclear Information System (INIS)

Rokey, R.; Rolak, L.A.; Harati, Y.; Kutka, N.; Verani, M.S.

1984-01-01

Coronary artery disease is the cause of death in most patients who have transient ischemic attacks or stroke. Evaluation for this condition is not routinely performed in such patients, and no prospective studies have been reported. We prospectively examined 50 consecutive patients with transient ischemic attacks or mild stroke to determine the prevalence and importance of coronary artery disease. All patients were examined by a cardiologist and underwent both exercise thallium-201 scintigraphy and exercise radionuclide ventriculography. Sixteen patients were suspected to have coronary artery disease on the basis of clinical evaluation. In 15 of these the was confirmed by the nuclear scans. The remaining 34 patients had no clinical evidence of heart disease, yet 14 had abnormal cardiac scans. Twenty of 22 patients with abnormal scans who underwent cardiac catheterization had significant coronary artery disease or a cardiomyopathy. The discovery of heart disease altered clinical management in 13 patients. Overall, 29 of 50 patients had significant coronary artery disease, compared with a 7% prevalence of the condition in other patients of similar age at the same institution

Genetics and Rheumatic Disease

Science.gov (United States)

... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

What Is Celiac Disease?

Science.gov (United States)

... Disease" Articles Celiac Disease Changes Everything / What is Celiac Disease? / Symptoms, Diagnosis and Treatment / Four Inches and Seven Pounds… / Learning to Live Well with Celiac Disease / Living Gluten-Free Spring 2015 Issue: Volume 10 ...

Celiac Disease Changes Everything

Science.gov (United States)

... Disease" Articles Celiac Disease Changes Everything / What is Celiac Disease? / Symptoms, Diagnosis and Treatment / Four Inches and Seven Pounds… / Learning to Live Well with Celiac Disease / Living Gluten-Free Spring 2015 Issue: Volume 10 ...

Heart disease - risk factors

Science.gov (United States)

Heart disease - prevention; CVD - risk factors; Cardiovascular disease - risk factors; Coronary artery disease - risk factors; CAD - risk ... a certain health condition. Some risk factors for heart disease you cannot change, but some you can. ...

Addison Disease

Science.gov (United States)

... your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

Lyme Disease

Science.gov (United States)

... spread to the nervous system, causing facial paralysis ( Bell's palsy ), or meningitis. The last stage of Lyme disease ... My Lyme Disease Risk? Bug Bites and Stings Bell's Palsy Rocky Mountain Spotted Fever Meningitis View more About ...

Refsum Disease

Science.gov (United States)

... night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include ... night blindness due to degeneration of the retina (retinitis pigmentosa). If the disease progresses, other symptoms may include ...

Epigenetics of kidney disease.

Science.gov (United States)

Wanner, Nicola; Bechtel-Walz, Wibke

2017-07-01

DNA methylation and histone modifications determine renal programming and the development and progression of renal disease. The identification of the way in which the renal cell epigenome is altered by environmental modifiers driving the onset and progression of renal diseases has extended our understanding of the pathophysiology of kidney disease progression. In this review, we focus on current knowledge concerning the implications of epigenetic modifications during renal disease from early development to chronic kidney disease progression including renal fibrosis, diabetic nephropathy and the translational potential of identifying new biomarkers and treatments for the prevention and therapy of chronic kidney disease and end-stage kidney disease.

Management of adynamic bone disease in chronic kidney disease: A brief review

Directory of Open Access Journals (Sweden)

Swathi K. Sista

2016-09-01

Full Text Available The Kidney Disease: Improving Global Outcomes (KDIGO work group released recommendations in 2006 to define the bone-related pathology associated with chronic kidney disease as renal osteodystrophy. In 2009, KDIGO released revised clinical practice guidelines which redefined systemic disorders of bone and mineral metabolism due to chronic kidney disease as chronic kidney disease-mineral and bone disorders. Conditions under this overarching term include osteitis fibrosa cystica, osteomalacia, and adynamic bone disease. We aim to provide a brief review of the histopathology, pathophysiology, epidemiology, and diagnostic features of adynamic bone disease, focusing on current trends in the management of this complex bone disorder.

Parkinson's Disease Videos

Science.gov (United States)

... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping Skills for ... Caregivers: Caremap and Caring & Coping CareMAP: Movement and Falls: Part ... There Any Ways to Control the Rate of Progression of the Disease? CareMAP: ...

Immunoglobulin G4-related disease: a rare disease with an unusual presentation.

Science.gov (United States)

Khan, Muhammad Waqas; Hadley, Terrance; Kesler, Melissa; Gul, Zartash

2016-07-01

IgG4-RD can also present in the skeletal muscle, mimicking several other diseases. It is unusual for this relatively new classification of diseases to present in the muscles and can be mistakenly diagnosed as other autoimmune diseases rendering a delay in the appropriate management and progression of the disease.

Kidney Disease

Science.gov (United States)

... Staying Safe Videos for Educators Search English Español Kidney Disease KidsHealth / For Teens / Kidney Disease What's in ... Coping With Kidney Conditions Print What Do the Kidneys Do? You might never think much about some ...

Undifferentiated Connective Tissue Disease

Science.gov (United States)

... Home Conditions Undifferentiated Connective Tissue Disease (UCTD) Undifferentiated Connective Tissue Disease (UCTD) Make an Appointment Find a Doctor ... by Barbara Goldstein, MD (February 01, 2016) Undifferentiated connective tissue disease (UCTD) is a systemic autoimmune disease. This ...

American Lyme Disease Foundation

Science.gov (United States)

... Infectious Diseases, 35: 451-464, 2002) What is Lyme Disease? Lyme disease (LD) is an infection caused by ... mission with your own tax-deductible contribution. American Lyme Disease Foundation, Inc. PO Box 466 Lyme, CT 06371 ...

Inflammation and Heart Disease

Science.gov (United States)

... Disease Venous Thromboembolism Aortic Aneurysm More Inflammation and Heart Disease Updated:Jun 13,2017 Understand the risks of ... inflammation causes cardiovascular disease, inflammation is common for heart disease and stroke patients and is thought to be ...

Parkinson's Disease Videos

Medline Plus

Full Text Available ... Nonmotor Symptoms of Parkinson's Disease Expert Briefings: Gait, Balance and Falls in Parkinson's Disease Expert Briefings: Coping Skills for ... Caregivers: Caremap and Caring & Coping CareMAP: Movement and Falls: Part ... There Any Ways to Control the Rate of Progression of the Disease? CareMAP: ...

Sexual transmission of Lyme disease: challenging the tickborne disease paradigm.

Science.gov (United States)

Stricker, Raphael B; Middelveen, Marianne J

2015-01-01

Lyme disease caused by the spirochete Borrelia burgdorferi has become a major worldwide epidemic. In this article, we explore the clinical, epidemiological and experimental evidence for sexual transmission of Lyme disease in animal models and humans. Although the likelihood of sexual transmission of the Lyme spirochete remains speculative, the possibility of Lyme disease transmission via intimate human contact merits further study.

Hodgkin's disease part 1: pathology, staging, and management of early stage disease

International Nuclear Information System (INIS)

Mauch, Peter; Yahalom, Joachim

1995-01-01

Over the past 25 years there have been dramatic improvements in our understanding of the epidemiology, biology, natural history, and treatment of Hodgkins disease. Hodgkin's disease is one of the few cancers where both chemotherapy and radiation therapy have provided dramatic improvements in cure of this once uniformly fatal disease. Part 1 of the refresher course on Hodgkin's disease will include a review of: 1) New Findings in epidemiology, immunohistochemistry and molecular biology of the Reed-Sternberg cell including association with Epstein-Barr virus; 2) Review of pathology including discussions of NS 1 vs NS2, and nodular LP subclassifications; 3) Recommendations for staging including the role of staging laparotomy in Hodgkin's disease; 4) Standard techniques for commonly used radiation therapy fields for Hodgkin's disease and 5) Treatment of early stage Hodgkin's disease including an overview on recent and current clinical trials

Heart disease and women

Science.gov (United States)

... this page: //medlineplus.gov/ency/article/007188.htm Heart disease and women To use the sharing features on ... please enable JavaScript. People often DO NOT consider heart disease a woman's disease. Yet cardiovascular disease is the ...

Men and Heart Disease

Science.gov (United States)

... Pressure Salt Cholesterol Million Hearts® WISEWOMAN Men and Heart Disease Fact Sheet Recommend on Facebook Tweet Share Compartir Source: Interactive Atlas of Heart Disease and Stroke Heart Disease Facts in Men Heart disease is the leading ...

Digestive Diseases

Science.gov (United States)

... Lactose Intolerance Liver Disease Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the Bowel Pancreatitis Peptic Ulcers (Stomach ... and outreach materials. Clinical Trials Clinical trials offer hope for many people and opportunities to help researchers ...

Viral Disease Networks?

Science.gov (United States)

Gulbahce, Natali; Yan, Han; Vidal, Marc; Barabasi, Albert-Laszlo

2010-03-01

Viral infections induce multiple perturbations that spread along the links of the biological networks of the host cells. Understanding the impact of these cascading perturbations requires an exhaustive knowledge of the cellular machinery as well as a systems biology approach that reveals how individual components of the cellular system function together. Here we describe an integrative method that provides a new approach to studying virus-human interactions and its correlations with diseases. Our method involves the combined utilization of protein - protein interactions, protein -- DNA interactions, metabolomics and gene - disease associations to build a ``viraldiseasome''. By solely using high-throughput data, we map well-known viral associated diseases and predict new candidate viral diseases. We use microarray data of virus-infected tissues and patient medical history data to further test the implications of the viral diseasome. We apply this method to Epstein-Barr virus and Human Papillomavirus and shed light into molecular development of viral diseases and disease pathways.

Coeliac disease and epilepsy.

LENUS (Irish Health Repository)

Cronin, C C

2012-02-03

Whether there is an association between coeliac disease and epilepsy is uncertain. Recently, a syndrome of coeliac disease, occipital lobe epilepsy and cerebral calcification has been described, mostly in Italy. We measured the prevalence of coeliac disease in patients attending a seizure clinic, and investigated whether cerebral calcification occurred in patients with both coeliac disease and epilepsy. Screening for coeliac disease was by IgA endomysial antibody, measured by indirect immunofluorescence using sections of human umbilical cord. Of 177 patients screened, four patients were positive. All had small-bowel histology typical of coeliac disease. The overall frequency of coeliac disease in this mixed patient sample was 1 in 44. In a control group of 488 pregnant patients, two serum samples were positive (1 in 244). Sixteen patients with both coeliac disease and epilepsy, who had previously attended this hospital, were identified. No patient had cerebral calcification on CT scanning. Coeliac disease appears to occur with increased frequency in patients with epilepsy, and a high index of suspicion should be maintained. Cerebral calcification is not a feature of our patients with epilepsy and coeliac disease, and may be an ethnically-or geographically-restricted finding.

National disease management plans for key chronic non-communicable diseases in Singapore.

Science.gov (United States)

Tan, C C

2002-07-01

In Singapore, chronic, non-communicable diseases, namely coronary heart disease, stroke and cancer, account for more than 60% of all deaths and a high burden of disability and healthcare expenditure. The burden of these diseases is likely to rise with our rapidly ageing population and changing lifestyles, and will present profound challenges to our healthcare delivery and financing systems over the next 20 to 30 years. The containment and optimal management of these conditions require a strong emphasis on patient education and the development of integrated models of healthcare delivery in place of the present uncoordinated, compartmentalised way of delivering healthcare. To meet these challenges, the Ministry of Health's major thrusts are disease control measures which focus mainly on primary prevention; and disease management, which coordinates the national effort to reduce the incidence of these key diseases and their predisposing factors and to ameliorate their long-term impact by optimising control to reduce mortality, morbidity and complications, and improving functional status through rehabilitation. The key initiatives include restructuring of the public sector healthcare institutions into two clusters, each comprising a network of primary health care polyclinics, regional hospitals and tertiary institutions. The functional integration of these healthcare elements within each cluster under a common senior administrative and professional management, and the development of common clinical IT systems will greatly facilitate the implementation of disease management programmes. Secondly, the Ministry is establishing National Disease Registries in coronary heart disease, cancer, stroke, myopia and kidney failure, which will be valuable sources of clinical and outcomes data. Thirdly, in partnership with expert groups, national committees and professional agencies, the Ministry will produce clinical practice guidelines which will assist doctors and healthcare

Diagnostic approach and management strategy of childhood stroke

International Nuclear Information System (INIS)

Salih, Mustafa A.; Abdel-Gader, Abdel-Galil M.

2006-01-01

Prompt recognition and early intervention, with pertinent management and medication, may reduce subsequent neurologic deficits in stroke, which constitutes a devastating event in children. This is due to the tasking and demanding consequences including death or residual neurological deficits, which may last for many decades, in over 60% of survivors. Evidence based treatment for children with stroke is still lacking, reflecting scarcity in base line epidemiological data on pediatric stroke, the multitude of underlying risk factors, and ethical and practical challenges incurred in conducting clinical trials. Based on the experience we gained from a combined a combined prospective and retrospective study on childhood stroke (covering 10 years and 7 months and involving a cohort of 104 Saudi children), a diagnostic algorithm, which outlines the approach to a child with suspected stroke/cerebovascular lesion was designed. This algorithm might also be of use for managing other children with stroke from the Arabian Peninsula and Middle East Region with similar demographic, socioeconomic, and ethnic backgrounds. Underlying risk factors which need special attention, include thrombophilia and hypercoagulable states and sickle cell diseases (SCD), which contrary to previous studies from Saudi Arabia, were found to constitute a common risk factor with severe manifestations. Other risk factors include infections (especially neurobrucellosis), cardiac diseases, and hypernatremic dehydration. Recognition of an identifiable syndrome or inherited metabolic cause may unravel an underlying cerebovascular disease. This is particularly important in this region, given the large pool of autosomal recessive diseases and the high rate of consanguinity. In the evaluation of a suspected case of stroke, important imaging modalities include cranial CT, MRI (including diffusion-weighted images), magnetic resonance angiography (MRA), magnetic resonance venography (MRV) and conventional

Pediatric Inflammatory Bowel Diseases

DEFF Research Database (Denmark)

Lauritzen, Didde; Andreassen, Bente Utoft; Heegaard, Niels Henrik H

2018-01-01

Background: Kidney disease has been reported in adults with inflammatory bowel disease (IBD) and is regarded an extraintestinal manifestation or more rarely a side effect of the medical treatment. Methods: In this cross-sectional study we describe the extent of kidney pathology in a cohort of 56...... children with IBD. Blood and urine samples were analyzed for markers of kidney disease and ultrasonography was performed to evaluate pole-to-pole kidney length. Results: We found that 25% of the patients had either previously reported kidney disease or ultrasonographic signs of chronic kidney disease...... are at risk of chronic kidney disease, and the risk seems to be increased with the severity of the disease....

Norries disease

Directory of Open Access Journals (Sweden)

Saini J

1992-01-01

Full Text Available A 2-month-old male infant was found to have Norrie′s disease. The clinical presentation and detailed histological features diagnostic of the disease are discussed. This is the first authentic, histologically proven case of Norrie′s disease from India. The absence of hearing loss and mental retardation at the time of presentation at the early stage of infancy and the fact that the case was sporadic do not detract from the diagnosis. However the child at the age of one year developed hearing loss.

Menkes Disease

Science.gov (United States)

... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Menkes disease is caused by a defective gene named ATPTA ... arteries. Weakened bones (osteoporosis) may result in fractures. × Definition Menkes disease is caused by a defective gene named ATPTA ...

Fabry Disease

Science.gov (United States)

... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Fabry disease is caused by the lack of or faulty ... severe symptoms similar to males with the disorder. × Definition Fabry disease is caused by the lack of or faulty ...

Fifth disease

Science.gov (United States)

Parvovirus B19; Erythema infectiosum; Slapped cheek rash ... Fifth disease is caused by human parvovirus B19. It often affects preschoolers or school-age children during the spring. The disease spreads through the fluids in the nose and mouth ...

Gastro-esophageal reflux disease and exacerbations in chronic obstructive pulmonary disease.

Science.gov (United States)

Ingebrigtsen, Truls S; Marott, Jacob L; Vestbo, Jørgen; Nordestgaard, Børge G; Hallas, Jesper; Lange, Peter

2015-01-01

We tested the hypothesis that gastro-esophageal reflux disease is a risk factor for exacerbations in individuals with chronic obstructive pulmonary disease (COPD). Among 9622 participants in the Copenhagen City Heart Study, we identified 1259 individuals with COPD and information on gastro-esophageal reflux disease and the regular use of acid inhibitory treatment. These individuals were followed for 5 years with regard to medically treated COPD exacerbations, which we defined as a short course treatment with oral corticosteroids alone or in combination with antibiotics. We applied a multivariable Cox regression analysis with adjustment for well-established risk factors associated with COPD exacerbations or gastro-esophageal reflux disease, including COPD severity, and symptoms. Individuals with COPD and gastro-esophageal reflux disease had more chronic bronchitis (31 vs 21%, P = 0.004), more breathlessness (39 vs 22%, P gastro-esophageal reflux disease. Among individuals with COPD and gastro-esophageal reflux disease, those who did not use acid inhibitory treatment regularly had an increased risk of COPD exacerbations during follow-up, hazards ratio (HR): HR = 2.7 (1.3-5.4, P = 0.006). Individuals with gastro-esophageal reflux disease, using acid inhibitory treatment regularly did not have an increased risk of exacerbations, HR = 1.2 (0.6-2.7, P = 0.63). Gastro-esophageal reflux disease was associated with an increased risk of medically treated exacerbations of COPD, but only in those individuals who did not use acid inhibitory treatment regularly. © 2014 Asian Pacific Society of Respirology.

Multi-disease data management system platform for vector-borne diseases.

Directory of Open Access Journals (Sweden)

Lars Eisen

2011-03-01

Full Text Available Emerging information technologies present new opportunities to reduce the burden of malaria, dengue and other infectious diseases. For example, use of a data management system software package can help disease control programs to better manage and analyze their data, and thus enhances their ability to carry out continuous surveillance, monitor interventions and evaluate control program performance.We describe a novel multi-disease data management system platform (hereinafter referred to as the system with current capacity for dengue and malaria that supports data entry, storage and query. It also allows for production of maps and both standardized and customized reports. The system is comprised exclusively of software components that can be distributed without the user incurring licensing costs. It was designed to maximize the ability of the user to adapt the system to local conditions without involvement of software developers. Key points of system adaptability include 1 customizable functionality content by disease, 2 configurable roles and permissions, 3 customizable user interfaces and display labels and 4 configurable information trees including a geographical entity tree and a term tree. The system includes significant portions of functionality that is entirely or in large part re-used across diseases, which provides an economy of scope as new diseases downstream are added to the system at decreased cost.We have developed a system with great potential for aiding disease control programs in their task to reduce the burden of dengue and malaria, including the implementation of integrated vector management programs. Next steps include evaluations of operational implementations of the current system with capacity for dengue and malaria, and the inclusion in the system platform of other important vector-borne diseases.

Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease

DEFF Research Database (Denmark)

Dale, Maria; Maltby, John; Shimozaki, Steve

2016-01-01

OBJECTIVE: Depression and anxiety significantly affect morbidity in Huntington's disease. Mice. models of Huntington's disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not previously been explored in humans with Huntington......'s disease. However, among certain medical populations, evidence of sex differences in mood across various disease stages has been found, reflecting trends among the general population that women tend to experience anxiety and depression 1.5 to 2 times more than men. The current study examined whether...... disease stage and sex, either separately or as an interaction term, predicted anxiety and depression in Huntington's disease. METHODS: A cross-sectional study of REGISTRY data involving 453 Huntington's disease participants from 12 European countries was undertaken using the Hospital Anxiety...

Parkinson's disease and Alzheimer's disease: hypersensitivity to X-rays in cultured cell lines

Energy Technology Data Exchange (ETDEWEB)

Robbins, J H; Otsuka, Fujio; Tarone, R E; Polinsky, R J; Nee, L E; Brumback, R A

1985-09-01

Fibroblast and/or lymphoblastoid lines from patients with several inherited primary neuronal degenerations are hypersensitive to DNA-damaging agents. Therefore, lymphoblastoid lines were irradiated from patients with sporadic Parkinson's disease (PD), Alzheimer's disease, and amyotrophic lateral sclerosis. The mean survival values of the eight Parkinson's disease and of the six Alzheimer's disease lines, but not of the five amyotrophic lateral sclerosis lines, were less than that of the 28 normal lines. Our results with Parkinson's disease and Alzheimer's disease cells can be explained by a genetic defect arising as a somatic mutation during embryogenesis, causing defective repair of the X-ray type of DNA damage. Such a DNA repair defect could cause an abnormal accumulation of spontaneously occurring DNA damage in Parkinson's disease and Alzheimer's disease neurons in vivo, resulting in their premature death.

Parkinson's disease and Alzheimer's disease: hypersensitivity to X-rays in cultured cell lines

International Nuclear Information System (INIS)

Robbins, J.H.; Otsuka, Fujio; Tarone, R.E.; Polinsky, R.J.; Nee, L.E.; Brumback, R.A.

1985-01-01

Fibroblast and/or lymphoblastoid lines from patients with several inherited primary neuronal degenerations are hypersensitive to DNA-damaging agents. Therefore, lymphoblastoid lines were irradiated from patients with sporadic Parkinson's disease (PD), Alzheimer's disease, and amyotrophic lateral sclerosis. The mean survival values of the eight Parkinson's disease and of the six Alzheimer's disease lines, but not of the five amyotrophic lateral sclerosis lines, were less than that of the 28 normal lines. Our results with Parkinson's disease and Alzheimer's disease cells can be explained by a genetic defect arising as a somatic mutation during embryogenesis, causing defective repair of the X-ray type of DNA damage. Such a DNA repair defect could cause an abnormal accumulation of spontaneously occurring DNA damage in Parkinson's disease and Alzheimer's disease neurons in vivo, resulting in their premature death. (author)

HIV and Cardiovascular Disease

Science.gov (United States)

... Select a Language: Fact Sheet 652 HIV and Cardiovascular Disease HIV AND CARDIOVASCULAR DISEASE WHY SHOULD PEOPLE WITH HIV CARE ABOUT CVD? ... OF CVD? WHAT ABOUT CHANGING MEDICATIONS? HIV AND CARDIOVASCULAR DISEASE Cardiovascular disease (CVD) includes a group of problems ...

Diabetes and Celiac Disease

Science.gov (United States)

... some in the family will have celiac disease. • Symptoms of celiac disease vary widely, but are often absent in persons ... Abnormal labs XX Diabetes and Celiac Disease | continued CELIAC DISEASE Classic symptoms... Gas, bloating, diarrhea, constipation, vomiting, weight loss, anemia. ...

Poorly Responsive Celiac Disease

Science.gov (United States)

... Close Celiac Disease Understanding Celiac Disease What is Celiac Disease? Symptoms Screening and Diagnosis Treatment and Follow-Up Dermatitis ... Schuppan D, Kelly CP. Etiologies and predictors of diagnosis in nonresponsive celiac disease. Clin Gastroenterol Hepatol 2007; 5 : 445–50. Finding ...

Early Disseminated Lyme Disease with Carditis Complicated by Posttreatment Lyme Disease Syndrome

OpenAIRE

Novak, Cheryl; Harrison, Andrew; Aucott, John

2017-01-01

Lyme disease is an infectious disease caused by the bacterium Borrelia burgdorferi. When untreated, infection may spread to the heart, nervous system, and joints. Cardiac involvement usually manifests as abnormalities of the conduction system and bradycardia. Treatment of Lyme disease is generally effective, with a subset of patients experiencing persistent, sometimes long-term symptoms called posttreatment Lyme disease syndrome.

Autoimmune disease and risk for Parkinson disease A population-based case-control study

DEFF Research Database (Denmark)

Rugbjerg, K.; Friis, S.; Ritz, B.

2009-01-01

Objective: Inflammatory mediators are increased in autoimmune diseases and may activate microglia and might cause an inflammatory state and degeneration of dopaminergic neurons in the brain. Thus, we evaluated whether having an autoimmune disease increases the risk for developing Parkinson disease...... do not support the hypothesis that autoimmune diseases increase the risk for Parkinson disease. The decreased risk observed among patients with rheumatoid arthritis might be explained by underdiagnosis of movement disorders such as Parkinson disease in this patient group or by a protective effect...

diseases free body

OpenAIRE

thararose

2018-01-01

Diseases are very common now a days . It is our food habits itself that causes this diseases. Diseases can cause many health problems. goiter causes and symptoms It is very important to follow healthy food habits and to maintain good health. A healthy body is always a treasure to every person.

Emerging zoonotic viral diseases.

Science.gov (United States)

Wang, L-F; Crameri, G

2014-08-01

Zoonotic diseases are infectious diseases that are naturally transmitted from vertebrate animals to humans and vice versa. They are caused by all types of pathogenic agents, including bacteria, parasites, fungi, viruses and prions. Although they have been recognised for many centuries, their impact on public health has increased in the last few decades due to a combination of the success in reducing the spread of human infectious diseases through vaccination and effective therapies and the emergence of novel zoonotic diseases. It is being increasingly recognised that a One Health approach at the human-animal-ecosystem interface is needed for effective investigation, prevention and control of any emerging zoonotic disease. Here, the authors will review the drivers for emergence, highlight some of the high-impact emerging zoonotic diseases of the last two decades and provide examples of novel One Health approaches for disease investigation, prevention and control. Although this review focuses on emerging zoonotic viral diseases, the authors consider that the discussions presented in this paper will be equally applicable to emerging zoonotic diseases of other pathogen types.

Clinical outcome of Crohn's disease according to the Vienna classification: disease location is a useful predictor of disease course

NARCIS (Netherlands)

Oostenbrug, Liekele E.; van Dullemen, Hendrik M.; te Meerman, Gerard J.; Jansen, Peter L. M.; Kleibeuker, Jan H.

2006-01-01

OBJECTIVES: Crohn's disease (CD) is a complex genetic disease with multiple clinical patterns. Clinical classifications may help to identify subgroups of patients that have a distinct pattern of disease, and they are also a prerequisite for the conduction of genetic and therapeutic studies. The aim

Clinical outcome of Crohn's disease according to the Vienna classification : disease location is a useful predictor of disease course

NARCIS (Netherlands)

Oostenbrug, Liekele E.; van Dullemen, Hendrik M.; te Meerman, Gerard J.; Jansen, Peter L. M.; Kleibeuker, Jan H.

Objectives Crohn's disease (CD) is a complex genetic disease with multiple clinical patterns. Clinical classifications may help to identify subgroups of patients that have a distinct pattern of disease, and they are also a prerequisite for the conduction of genetic and therapeutic studies. The aim

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011

NARCIS (Netherlands)

van Lier, Alies; McDonald, Scott A; Bouwknegt, Martijn; Kretzschmar, Mirjam E; Havelaar, Arie H; Mangen, Marie-Josée J; Wallinga, Jacco; de Melker, Hester E

2016-01-01

BACKGROUND: Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first

Pregnancy and periodontal disease

OpenAIRE

Sağlam, Ebru; Saruhan, Nesrin; Çanakçı, Cenk Fatih

2015-01-01

Some maternal immunological changes due to pregnancy increases susceptibility to infections. Periodontal disease, the main cause is plaque, is a common disease which is seen multifactorial and varying severity. There are many clinical criteria for diagnosis of periodontal disease. Correlation between pregnancy and periodontal inflammation is known for many years. Periodontal disease affects pregnant’s systemic condition and also has negative effects on fetus. Periodontal disease increases the...

STRESS AS PREDISPOSING FACTOR OF SOME CHRONIC DISEASES INCLUDING PERIODONTAL DISEASE

Directory of Open Access Journals (Sweden)

Dewi-Nurul M Dewi-Nurul

2006-04-01

Full Text Available Stress is hypothesized as a common pathway for several related chronic diseases of man. Psychosocial stress as modified by perceptions and coping by patients can lead to physical processes. Psychoneuroimmunologic (PNI studies have suggested that psychosocial stress can alter immune function and increase vulnerability to illnesses. The patients also have high sensitivity to periodontal disease (PD. This article describes the association of stress as a physiological response to diseases such as PD, rheumatoid arthritis (RA, and inflammatory bowel disease. The psychosocial stress can lead to physiological processes through 1 the hypothalamic-pituitary-adrenal (HPA axis leading to glucocortico-steroid secretion; 2 the autonomic nervous system, resulting in the release of catecholamine; or 3 the hypothalamic-pituitary-gonadal axis, resulting in the release of sex hormones. These processes may affect chronic diseases. It can be concluded that psychosocial stress in periodontal disease patients must be considered and social support must be provided in order to achieve an optimum periodontal therapy result.

Association between periodontal disease and cardiovascular disease

International Nuclear Information System (INIS)

Rehman, M.M.; Salama, R.P.

2004-01-01

Studies have supported the notion that subjects with periodontitis and patients with multiple tooth extractions as a result of chronic advanced periodontal disease (PDD) have a greater risk of developing Cardiovascular disease (CVD) than those who had little or no periodontal infection. Periodontitis may predispose affected patients to CVD by elevating systemic C-reactive protein level and pro-inflammatory activity in atherosclerotic lesions and accelerate development of cardiovascular diseases, Oral health variables including loss of teeth, positive plaque Benzoyl-D-L-Arginine- Naphthyl Amide test (BANA) scores, and compliant of xerostomia may by considered as risk indicators for CVD. Exact mechanism which links PDD and CVD has not been firmly established. The link between PDD and CVD may be attributed to bacteria entering blood stream and attaching to the fatty plaque in coronary artery and contributing to clot formation which can lead to heart attack. Inflammation caused by PDD increases the plaque build up. The association between the two disease entities is cause for concern. However, dental and medical practitioners should be aware of these findings to move intelligently to interact with inquiring patients with periodontitis. They should be urged to maintain medical surveillance of their cardiovascular status, and work on controlling or reducing all known risk factors associated with CVD, including periodontal infection. (author)

Association between periodontal disease and cardiovascular disease

Energy Technology Data Exchange (ETDEWEB)

Rehman, M M; Salama, R P [Ajman Univ. of Science and Technology Network, Abu-Dhabi Campus (United Arab Emirates)

2004-06-01

Studies have supported the notion that subjects with periodontitis and patients with multiple tooth extractions as a result of chronic advanced periodontal disease (PDD) have a greater risk of developing Cardiovascular disease (CVD) than those who had little or no periodontal infection. Periodontitis may predispose affected patients to CVD by elevating systemic C-reactive protein level and pro-inflammatory activity in atherosclerotic lesions and accelerate development of cardiovascular diseases, Oral health variables including loss of teeth, positive plaque Benzoyl-D-L-Arginine- Naphthyl Amide test (BANA) scores, and compliant of xerostomia may by considered as risk indicators for CVD. Exact mechanism which links PDD and CVD has not been firmly established. The link between PDD and CVD may be attributed to bacteria entering blood stream and attaching to the fatty plaque in coronary artery and contributing to clot formation which can lead to heart attack. Inflammation caused by PDD increases the plaque build up. The association between the two disease entities is cause for concern. However, dental and medical practitioners should be aware of these findings to move intelligently to interact with inquiring patients with periodontitis. They should be urged to maintain medical surveillance of their cardiovascular status, and work on controlling or reducing all known risk factors associated with CVD, including periodontal infection. (author)

Celiac disease in Iran

Directory of Open Access Journals (Sweden)

Malekzadeh R

2007-06-01

Full Text Available Background: Until a few decades ago, celiac disease was considered to be essentially a disease of European people and to be very rare in Middle Eastern countries. During the last two decades, having met the criteria for the WHO general screening, the advent and application of novel serological assays used to screen for celiac disease and the use of endoscopic small bowel biopsy have led to increasing numbers of diagnoses of celiac disease in western countries. With this new data, our knowledge on both the clinical pattern and epidemiology of celiac disease has increased, and is now known to be a relatively common autoimmune disorder. Studies performed in different parts of the developing world have shown that the prevalence of celiac disease in this area is similar to or even higher than that in western countries. In fact, celiac disease is known to be the most common form of chronic diarrhea in Iran. However, contrary to common belief, celiac disease is more than a pure digestive alteration. It is a protean systemic disease, and, with a 95 percent genetic predisposition, has a myriad of symptoms including gastrointestinal, dermatological, dental, neurological and behavioral that can occur at a variety of ages. Monosymptomatic, oligosymptomatic, atypical (without gastrointestinal symptoms, silent and latent forms of celiac disease have been identified. In this study we review the epidemiology of celiac disease based on the studies performed in Iran and discuss its pathogenesis, the role of antibodies in the diagnosis of celiac disease and the importance of its diagnosis and treatment in Iran.

The link between chronic kidney disease and cardiovascular disease.

Science.gov (United States)

Said, Sarmad; Hernandez, German T

2014-07-01

It is well known that patients with chronic kidney disease (CKD) have a strong risk of cardiovascular disease (CVD). However, the excess risk of cardiovascular disease in patients with CKD is only partially explained by the presence of traditional risk factors, such as hypertension and diabetes mellitus. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed, EBSCO and Web of Science has been searched. Chronic kidney disease even in its early stages can cause hypertension and potentiate the risk for cardiovascular disease. However, the practice of intensive blood pressure lowering was criticized in recent systematic reviews. Available evidence is inconclusive but does not prove that a blood pressure target of less than 130/80 mmHg as recommended in the guidelines improves clinical outcomes more than a target of less than 140/90 mmHg in adults with CKD. The association between CKD and CVD has been extensively documented in the literature. Both CKD and CVD share common traditional risk factors, such as smoking, obesity, hypertension, diabetes mellitus, and dyslipidemia. However, cardiovascular disease remains often underdiagnosed und undertreated in patients with CKD. It is imperative that as clinicians, we recognize that patients with CKD are a group at high risk for developing CVD and cardiovascular events. Additional studies devoted to further understand the risk factors for CVD in patients with CKD are necessary to develop and institute preventative and treatment strategies to reduce the high morbidity and mortality in patients with CKD.

Leigh's Disease

Science.gov (United States)

... X-linked form of Leigh’s disease, a high-fat, low-carbohydrate diet may be recommended. View Full Treatment Information Definition Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ...

Parasitic diseases

International Nuclear Information System (INIS)

Rozenshtraukh, L.S.

1983-01-01

Foundations of roentgenological semiotics of parasitic diseases of lungs, w hich are of the greatest practical value, are presented. Roentgenological pictu res of the following parasitic diseases: hydatid and alveolar echinococcosis, pa ragonimiasis, toxoplasmosis, ascariasis, amebiasis, bilharziasis (Schistosomias is) of lungs, are considered

Menopause and Rheumatic Disease.

Science.gov (United States)

Talsania, Mitali; Scofield, Robert Hal

2017-05-01

Menopause occurs naturally in women at about 50 years of age. There is a wealth of data concerning the relationship of menopause to systemic lupus erythematosus, rheumatoid arthritis, and osteoarthritis; there are limited data concerning other rheumatic diseases. Age at menopause may affect the risk and course of rheumatic diseases. Osteoporosis, an integral part of inflammatory rheumatic diseases, is made worse by menopause. Hormone replacement therapy has been studied; its effects vary depending on the disease and even different manifestations within the same disease. Cyclophosphamide can induce early menopause, but there is underlying decreased ovarian reserve in rheumatic diseases. Published by Elsevier Inc.

Symptoms in Inflammatory Bowel Disease: pathophysiologic aspects and their relation with disease activity

NARCIS (Netherlands)

Minderhoud, I.M.

2007-01-01

Symptoms in Inflammatory Bowel Disease: pathophysiologic aspects and their relation with disease activity Inflammatory bowel disease (IBD) comprises ulcerative colitis (UC) and Crohn's disease (CD). IBD patients frequently complain of fatigue, and a substantial proportion of the patients have