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Sample records for tuberous sclerosis review

  1. Tuberous sclerosis

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    Krishnan S

    1996-01-01

    Full Text Available Although tuberous sclerosis has been described with a diagnostic triad, it is not present consistently in all cases. Variety of skin manifestations were reported in tuberous sclerosis. This studay was undertaken to assess the frequency of various skin changes in tuberous sclerosis. Ten consecutive cases of tuberous sclerosis were studied. Angiofibroma was the commonest cutaneous manifestation. Atypical fibroxanthoma, dermatofibroma and neurofibroma were also noticed as interesting associations.

  2. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

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    Krueger, Darcy A; Northrup, Hope

    2013-10-01

    Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective of the fact that last consensus recommendations occurred in 1998 and an updated, comprehensive standard is lacking that incorporates the latest scientific evidence and current best clinical practices. The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 separate subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important clinical management implications and was charged with formulating key clinical questions to address within its focus area, reviewing relevant literature, evaluating the strength of data, and providing a recommendation accordingly. The updated consensus recommendations for clinical surveillance and management in tuberous sclerosis complex are summarized here. The recommendations are relevant to the entire lifespan of the patient, from infancy to adulthood, including both individuals where the diagnosis is newly made as well as individuals where the diagnosis already is established. The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

  3. Tuberous sclerosis complex: Recent advances in manifestations and therapy.

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    Wataya-Kaneda, Mari; Uemura, Motohide; Fujita, Kazutoshi; Hirata, Haruhiko; Osuga, Keigo; Kagitani-Shimono, Kuriko; Nonomura, Norio

    2017-09-01

    Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin-Tuberin complex is involved in the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin signal transduction pathway, and suppresses mammalian target of rapamycin complex 1 activity, which is a center for various functions. Constitutive activation of mammalian target of rapamycin complex 1 causes variable manifestations in tuberous sclerosis complex. Recently, genetic tests were launched to diagnose tuberous sclerosis complex, and mammalian target of rapamycin complex 1 inhibitors are being used to treat tuberous sclerosis complex patients. As a result of these advances, new diagnostic criteria have been established and an indispensable new treatment method; that is, "a cross-sectional medical examination system," a system to involve many experts for tuberous sclerosis complex diagnosis and treatments, was also created. Simultaneously, the frequency of genetic tests and advances in diagnostic technology have resulted in new views on symptoms. The numbers of tuberous sclerosis complex patients without neural symptoms are increasing, and for these patients, renal manifestations and pulmonary lymphangioleiomyomatosis have become important manifestations. New concepts of tuberous sclerosis complex-associated neuropsychiatric disorders or perivascular epithelioid cell tumors are being created. The present review contains a summary of recent advances, significant manifestations and therapy in tuberous sclerosis complex. © 2017 The Japanese Urological Association.

  4. Resource utilization in children with tuberous sclerosis complex and associated seizures: a retrospective chart review study.

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    Lennert, Barb; Farrelly, Eileen; Sacco, Patricia; Pira, Geraldine; Frost, Michael

    2013-04-01

    Seizures are a hallmark manifestation of tuberous sclerosis complex, yet data characterizing resource utilization are lacking. This retrospective chart review was performed to assess the economic burden of tuberous sclerosis complex with neurologic manifestations. Demographic and resource utilization data were collected for 95 patients for up to 5 years after tuberous sclerosis complex diagnosis. Mean age at diagnosis was 3.1 years, with complex partial and infantile spasms as the most common seizure types. In the first 5 years post-diagnosis, 83.2% required hospitalization, 30.5% underwent surgery, and the majority of patients (90.5%) underwent ≥3 testing procedures. In 79 patients with a full 5 years of data, hospitalizations, intensive care unit stays, diagnostic testing, and rehabilitation services decreased over the 5-year period. Resource utilization is cost-intensive in children with tuberous sclerosis complex and associated seizures during the first few years following diagnosis. Improving seizure control and reducing health care costs in this population remain unmet needs.

  5. Lung commitment in Tuberous Sclerosis

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    Carrillo B, Jorge A; Araque G, Julio Mario; Camargo P, Carlos B

    1992-01-01

    Tuberous sclerosis is a rare hereditary anomaly characterized by hamartomas in many parts of the body. Lung involvement is found in only one of 100 cases. In this case report we present a patient with lung involvement in tuberous sclerosis

  6. Genetics Home Reference: tuberous sclerosis complex

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    ... 42. Citation on PubMed Northrup H, Koenig MK, Pearson DA, Au KS. Tuberous Sclerosis Complex. 1999 Jul ... Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007 Aug;57(2): ...

  7. Tuberous Sclerosis

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    ... National Institute of Neurological Disorders and Stroke (NINDS). Esclerosis tuberosa Order NINDS Publications Patient Organizations Child Neurology ... National Institute of Neurological Disorders and Stroke (NINDS). Esclerosis tuberosa Order NINDS Publications Definition Tuberous sclerosis (TSC) ...

  8. Tuberous Sclerosis: Review of the literature and case report

    International Nuclear Information System (INIS)

    ElAbdin, H.; Ruprecht, A.; Halstead, C.

    1990-01-01

    Tuberous sclerosis is one of the neurocutaneous syndromes manifested by adenoma sebaceum, epilepsy, and mental retardation and is referred to as the Pringle-Boumeville syndrome. Characteristically, the cutaneous lesion has a butterfly pattern in the nasolabial folds, chin, and forehead. Oral lesions are rare, and mainly consists of fibrous masses. They were reportedly observed after the use of drugs for the treatment of epilepsy and are considered to be iatrogenic. In this study, a 27-year-old male Saudi patient, referred for treatment of an intraoral fibrous lesion, was reported with a case of tuberous sclerosis. This is the first case that has been reported from Saudi Arabia ancf no incidence figures are available. (author)

  9. White matter abnormalities in tuberous sclerosis complex

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    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Academic Dept. of Radiology; Bolton, P. [Cambridge Univ. (United Kingdom). Section of Developmental Psychiatry; Verity, C. [Addenbrooke`s NHS Trust, Cambridge (United Kingdom). Dept. of Paediatric Radiology

    1998-09-01

    The aim of this study was to investigate and describe the range of white matter abnormalities in children with tuberous sclerosis complex by means of MR imaging. Material and Methods: A retrospective cross-sectional study was performed on the basis of MR imaging findings in 20 cases of tuberous sclerosis complex in children aged 17 years or younger. Results: White matter abnormalities were present in 19/20 (95%) cases of tuberous sclerosis complex. These were most frequently (19/20 cases) found in relation to cortical tubers in the supratentorial compartment. White matter abnormalities related to tubers were found in the cerebellum in 3/20 (15%) cases. White matter abnormalities described as radial migration lines were found in relation to 5 tubers in 3 (15%) children. In 4/20 (20%) cases, white matter abnormalities were found that were not related to cortical tubers. These areas had the appearance of white matter cysts in 3 cases and infarction in the fourth. In the latter case there was a definable event in the clinical history, supporting the diagnosis of stroke. Conclusion: A range of white matter abnormalities were found by MR imaging in tuberous sclerosis complex, the commonest being gliosis and hypomyelination related to cortical tubers. Radial migration lines were seen infrequently in relation to cortical tubers and these are thought to represent heterotopic glia and neurons along the expected path of cortical migration. (orig.)

  10. Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex

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    Boronat, Susana [Massachusetts General Hospital, Department of Neurology, Boston, MA (United States); Universitat Autonoma de Barcelona, Department of Pediatric Neurology, Vall d' Hebron Hospital, Barcelona (Spain); Barber, Ignasi [Universitat Autonoma de Barcelona, Department of Pediatric Radiology, Vall d' Hebron Hospital, Barcelona (Spain); Pargaonkar, Vivek [Massachusetts General Hospital, Department of Radiology, Boston, MA (United States); Chang, Joshua; Thiele, Elizabeth A. [Massachusetts General Hospital, Department of Neurology, Boston, MA (United States)

    2016-05-15

    Sclerotic bone lesions are often seen on chest CT in adults with tuberous sclerosis complex. To characterize bone lesions at abdominal MRI in children with tuberous sclerosis complex. This retrospective review included 70 children with tuberous sclerosis complex who had undergone abdominal MRI for renal imaging. An additional longitudinal study was performed in 50 children who had had two or more MRI scans. Abdominal CT (eight children) and radiographs (three children) were reviewed and compared with MRI. A total of 173 sclerotic bone lesions were detected in 51/70 children (73%; 95% confidence interval: 0.61-0.82) chiefly affecting vertebral pedicles. New lesions appeared in 20 children and growth of previous sclerotic bone lesions was documented in 14 children. Sclerotic bone lesions were more frequent in girls and in children with more extensive renal involvement. Sclerotic bone lesions are commonly detected by abdominal MRI in children with tuberous sclerosis complex. They usually affect posterior vertebral elements and their number and size increase with age. As current recommendations for tuberous sclerosis complex surveillance include renal MR performed in childhood, recognition of these lesions is useful. (orig.)

  11. Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex

    International Nuclear Information System (INIS)

    Boronat, Susana; Barber, Ignasi; Pargaonkar, Vivek; Chang, Joshua; Thiele, Elizabeth A.

    2016-01-01

    Sclerotic bone lesions are often seen on chest CT in adults with tuberous sclerosis complex. To characterize bone lesions at abdominal MRI in children with tuberous sclerosis complex. This retrospective review included 70 children with tuberous sclerosis complex who had undergone abdominal MRI for renal imaging. An additional longitudinal study was performed in 50 children who had had two or more MRI scans. Abdominal CT (eight children) and radiographs (three children) were reviewed and compared with MRI. A total of 173 sclerotic bone lesions were detected in 51/70 children (73%; 95% confidence interval: 0.61-0.82) chiefly affecting vertebral pedicles. New lesions appeared in 20 children and growth of previous sclerotic bone lesions was documented in 14 children. Sclerotic bone lesions were more frequent in girls and in children with more extensive renal involvement. Sclerotic bone lesions are commonly detected by abdominal MRI in children with tuberous sclerosis complex. They usually affect posterior vertebral elements and their number and size increase with age. As current recommendations for tuberous sclerosis complex surveillance include renal MR performed in childhood, recognition of these lesions is useful. (orig.)

  12. Imaging of tuberous sclerosis complex: a pictorial review

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    Ranke, Felipe Mussi von; Faria, Igor Murad; Zanetti, Glaucia; Marchiori, Edson, E-mail: edmarchiori@gmail.com [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, (Brazil); Hochhegger, Bruno [Santa Casa de Porto Alegre, Porto Alegre, RS (Brazil); Souza Junior, Arthur Soares [Faculdade de Medicina de Sao Jose do Rio Preto (FAMERP) , SP (Brazil)

    2017-01-15

    Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions. The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation. Although recent advances in treatment have improved morbidity, the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years. Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis, but also in defining the full extent of involvement. This information allows a better understanding of the behavioural phenotype, as related to lesion location. Imaging also contributes to treatment planning. This pictorial review describes common and uncommon imaging manifestations of TSC. (author)

  13. Perivascular Epithelioid Cell Tumor (PEComa of the Uterine Cervix in a Patient with Tuberous Sclerosis Complex: A Literature Review

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    Handan ÇELİK

    2018-01-01

    Full Text Available Perivascular epithelioid cell tumors (PEComa are a rare type of mesenchymal tumor arising from perivascular epithelial cells. These tumor cells are a co-expression of both melanocytic and myogenic antigens, such as HMB 45 and smooth muscle actin, and at least in some patients, are located around vessels. PEComas has been reported at various sites, including visceral organs, soft tissue, the prostate gland and broad ligaments. In the female reproductive system, the uterine corpus is the most common site of involvement. Some cases are related to tuberous sclerosis complex. Cervical PEComa with tuberous sclerosis complex is presented in the case of a 41 year-old and the literature is reviewed. There have been only eight cases of cervical PEComas and only one other case associated with tuberous sclerosis complex reported to date.

  14. Unusual renal angiomyolipoma in tuberous sclerosis

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    Schwartz, A.M.

    1980-01-01

    A patient with tuberous sclerosis and a normal intravenous urogram 5 years previously presented with a large and palpable upper pole renal mass. Since patients with tuberous sclerosis have small bilateral hamartomas, a Wilms' tumor was suspected. In retrospect, inhomogeneous nephrograms should have alerted the radiologist to the multiplicity of other small lesions. Also, a partially lucent rim should have substantiated that the lesion was not a Wilms' tumor. (orig.) [de

  15. Clinical Usefulness of Aripiprazole and Lamotrigine in Schizoaffective Presentation of Tuberous Sclerosis.

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    Lee, Seung-Yup; Min, Jung-Ah; Lee, In Goo; Kim, Jung Jin

    2016-08-31

    Tuberous sclerosis is not as rare as once thought and has high psychiatric comorbidities. However, bipolar or psychotic features associated with tuberous sclerosis have been rarely reported. This report first presents a tuberous sclerosis patient, resembling a schizoaffective disorder of bipolar type. A patient with known tuberous sclerosis displayed mood fluctuation and psychotic features. Her symptoms did not remit along with several psychiatric medications. After hospitalization, the patient responded well with lamotrigine and aripiprazole without exacerbation. As demonstrated in this case, tuberous sclerosis may also encompass bipolar affective or psychotic features. We would like to point out the necessity to consider bipolarity in evaluating and treating tuberous sclerosis.

  16. Atypical findings on computed tomography in tuberous sclerosis

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    Glass, R.B.J.; Mendelsohn, D.B.; Hertzanu, Y.

    1984-01-01

    In 3 patients with tuberous sclerosis computed tomography showed numerous low-density areas suggestive of brain demyelination. In addition, solitary small subependymal calcifications were noted. These features in an infant or child with unexplained seizures should alert one to the diagnosis of tuberous sclerosis

  17. Parental Understanding of Tuberous Sclerosis Complex.

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    Samia, Pauline; Donald, Kirsten A; Schlegel, Birgit; Wilmshurst, Jo M

    2015-09-01

    Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of the parents of 21 children with tuberous sclerosis complex was undertaken. Median parental age was 38 (interquartile range 34.5-45) years. Parents were randomly allocated to receive written information about the condition, or to receive verbal counseling already established in clinic. A significant difference (P = .001) was observed in the change in the mean knowledge scores for the parent group that received written information (34.2 at baseline, 51.7 at the second visit. This impact was higher in parents with an education level of at least grade 8 (P = .003). Parental understanding of tuberous sclerosis complex can be improved by provision of written information and should be routinely available in a readily understandable format. © The Author(s) 2014.

  18. Tuberous sclerosis: Analysis of 24 cases with emphasis on atypical findings

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    Lee, Eun Ju; Suh, Jung Ho; Joo, Suk Hyun; Chung, Tae Sub

    1990-01-01

    We retrospectively analysed the clinical and CT findings of 24 cases with tuberous sclerosis with special emphasis upon the atypical presentation. The cases with classic clinical triad were accounted for in 21%, while 33% presented with atypical clinical features. The most common and characteristic CT finding is that of the subependymal calcified nodules of the lateral ventricle, which was seen in 85% of our cases. Cortical tuber and white matter lesions were demonstrated in 65% and 55%, respectively. Three cases showed cortical tuber and white matter lesion without subependymal tuber. The cortical tuber usually exhibited low density or calcified lesion, but showed high density in 2 cases. Other findings of tuberous sclerosis included intraventricular tumor, ventriculomegaly, and cortical atrophy. One case clearly demonstrated parenchymal tuber on MR imaging. In conclusion, diagnosis of tuberous sclerosis is usually made on the clinical bases initially. However, CT and MR are also diagnostic even in unusual clinical presentation such as unexplained retardation or epilepsy or when the classic clinical triad is incomplete. If only cortical tuber or white matter lesion is present, it is difficult to diagnose tuberous sclerosis and to differentiate from other cortical mass lesion. Therefore, careful evaluation is required with familiarity with the atypical appearance of the disease

  19. Tuberous sclerosis complex: A case report

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    Soumyabrata Sarkar

    2016-01-01

    Full Text Available Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera. It is characterized by cutaneous changes, neurologic conditions, and the formation of hamartomas in multiple organs leading to morbidity and mortality. The most common oral manifestations are fibromas, gingival hyperplasia, and enamel hypoplasia. The management of these patients is often multidisciplinary involving specialists from various fields. Here, we present a case report of a 26-old-year male patient with characteristic clinical, radiological, and histological features of tuberous sclerosis complex.

  20. Mucocutaneous changes in tuberous sclerosis complex: A clinical profile of 27 Indian patients

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    Ghosh Sudip

    2009-01-01

    Full Text Available Background: Tuberous sclerosis complex (TSC is an autosomal dominant neurocutaneous disease resulting in a wide array of clinical manifestations, primarily affecting the skin and central nervous system. Mucocutaneous features play a very important role in the recognition of this syndrome. Aims: To review the prevalence and patterns of cutaneous manifestations in tuberous sclerosis, in a group of patients from eastern India. Methods: Observational clinical study on twenty-seven consecutive patients of tuberous sclerosis collected during a period of four years. Results: Most were between 10-20 years of age; the male to female ratio was 2:1. Family history was found in two-thirds. The classical triad of tuberous sclerosis was present in only nine (33.3% patients. Adenoma sebaceum was the most common cutaneous feature (100%, followed by hypomelanotic macules (92.6%, connective tissue nevi (66.6%, and Koenen′s tumors (33.3%. Oral mucosal fibromas were seen in six (22.22% patients. Fibromatous plaque over forehead and scalp was seen in three patients. Limitation of the study was small size of study sample. Conclusion: Prominent mucocutaneous changes are extremely common manifestation of TSC, which may provide crucial diagnostic clues for primary care physicians.

  1. Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex.

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    D'Agati, Elisa; Moavero, Romina; Cerminara, Caterina; Curatolo, Paolo

    2009-10-01

    The neurobiological basis of attention-deficit hyperactivity disorder (ADHD) in tuberous sclerosis complex is still largely unknown. Cortical tubers may disrupt several brain networks that control different types of attention. Frontal lobe dysfunction due to seizures or epileptiform electroencephalographic discharges may perturb the development of brain systems that underpin attentional and hyperactive functions during a critical early stage of brain maturation. Comorbidity of attention-deficit hyperactivity disorder (ADHD) with mental retardation and autism spectrum disorders is frequent in children with tuberous sclerosis. Attention-deficit hyperactivity disorder (ADHD) may also reflect a direct effect of the abnormal genetic program. Treatment of children with tuberous sclerosis complex with combined symptoms of attention-deficit hyperactivity disorder (ADHD) and epilepsy may represent a challenge for clinicians, because antiepileptic therapy and drugs used to treat attention-deficit hyperactivity disorder (ADHD) may aggravate the clinical picture of each other.

  2. Coarctation of the aorta and renal artery stenosis in tuberous sclerosis

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    Flynn, P M; Robinson, M B; Stapleton, F B; Roy, S III; Koh, G; Tonkin, I L.D.

    1984-07-01

    Among neurocutaneous disorders, coarctation of the abdominal aorta and renal artery stenosis have traditionally been associated with neurofibromatosis. We report a 5-year-old girl who was discovered to have bilateral renal artery stenosis, coarctation of the abdominal aorta, renal cysts and typical skin lesions of tuberous clerosis during the evaluation of asymptomatic hypertension. Renal vascular hypertension has not been reported previously in tuberous sclerosis. We conclude that the tuberous sclerosis complex should be expanded to include vascular malformations and the hypertension should not be assumed to be secondary to renal hamartomata or cysts in patients with tuberous sclerosis.

  3. Coarctation of the aorta and renal artery stenosis in tuberous sclerosis

    International Nuclear Information System (INIS)

    Flynn, P.M.; Robinson, M.B.; Stapleton, F.B.; Roy, S. III; Koh, G.; Tonkin, I.L.D.; Tennessee Univ., Memphis; Tennessee Univ., Memphis; LeBonheur Children's Medical Center, Memphis, TN

    1984-01-01

    Among neurocutaneous disorders, coarctation of the abdominal aorta and renal artery stenosis have traditionally been associated with neurofibromatosis. We report a 5-year-old girl who was discovered to have bilateral renal artery stenosis, coarctation of the abdominal aorta, renal cysts and typical skin lesions of tuberous clerosis during the evaluation of asymptomatic hypertension. Renal vascular hypertension has not been reported previously in tuberous sclerosis. We conclude that the tuberous sclerosis complex should be expanded to include vascular malformations and the hypertension should not be assumed to be secondary to renal hamartomata or cysts in patients with tuberous sclerosis. (orig.)

  4. Challenges in the management of a case of tuberous sclerosis

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    Anubhav Rathi

    2012-01-01

    Full Text Available Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina. We hereby report therapeutic challenges faced in a case of an adolescent male suffering from tuberous sclerosis.

  5. Cross-sectional Imaging Review of Tuberous Sclerosis.

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    Krishnan, Anant; Kaza, Ravi K; Vummidi, Dharshan R

    2016-05-01

    Tuberous sclerosis complex (TSC) is a multisystem, genetic disorder characterized by development of hamartomas in the brain, abdomen, and thorax. It results from a mutation in one of 2 tumor suppressor genes that activates the mammalian target of rapamycin pathway. This article discusses the origins of the disorder, the recently updated criteria for the diagnosis of TSC, and the cross-sectional imaging findings and recommendations for surveillance. Familiarity with the diverse radiological features facilitates diagnosis and helps in treatment planning and monitoring response to treatment of this multisystem disorder. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Initial presentation with dilated cardiomyopathy in a patient of tuberous sclerosis: A rare case report

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    Dharmendra Jain

    2013-01-01

    Full Text Available A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC like facial angiofibroma, shagreen patch, subependymal nodules, and angiomyolipoma of kidney. The clinical manifestations, pathogenesis and evaluation of tuberous sclerosis are discussed.

  7. Tuberous sclerosis: Improvement of diagnosis by CT and MRI

    International Nuclear Information System (INIS)

    Dewes, W.; Henkes, H.; Richter, J.; Kretschmer, A.; Benz, P.; Brill, G.

    1992-01-01

    Ten children and a 22-y old women with tuberous sclerosis were studied. All children were epileptic but only 8 had skin lesions (white spots, adenoma sebaceum), 4 had rhabdomyoma of the heart and 4 children had strocytoma of the retina; only in 4 children was the entire triad of tuberous sclerosis seen. The young woman with a hemorrhage of an angiolipoma of the kidney had no other symptoms of tuberous sclerosis. All patients had pathologic CT and MRT findings; 4 different types of lesion were seen in MRT. In order to elucidate humangenetic aspects and to demonstrate the underlying disease all children with epileptic disorders and also all patients without the full triad of symptoms should be examined by MRT. (orig.) [de

  8. Tuberous sclerosis: diffusion MRI findings in the brain

    International Nuclear Information System (INIS)

    Sener, R.N.

    2002-01-01

    Diffusion MRI has mainly been used for detection of acute ischemia, and for distinction of cytotoxic and vasogenic edema. We applied diffusion MRI in patients with tuberous sclerosis in order to evaluate diffusion imaging characteristics of parenchymal changes. Five children with known tuberous sclerosis were included in this study. The MRI examinations were performed on a 1.5-T MR unit. Diffusion MRI was obtained using the echo-planar imaging sequence. Apparent diffusion coefficient (ADC) values from the abnormal brain parenchyma were calculated directly from automatically generated ADC maps. Seven normal children were available for comparison. In this control group the mean ADC value of the normal white matter was 0.84±0.12 x 10 -3 mm 2 /s. In tuberous sclerosis patients the mean ADC value of the white matter hamartomas (n=20) was apparently high (1.52±0.24 x 10 -3 mm 2 /s) compared with that of normal white matter. The ADC value of calcified hamartomas was ''zero''. The ADC value within a giant cell tumor was 0.89 x 10 -3 mm 2 /s, similar to that of normal cerebral white matter. The ADC maps were superior to b=1000 s/mm 2 (true diffusion) images with respect to lesion evaluation, and they provided mathematical information on tissue integrity. With respect to detection of the exact numbers and sizes of the parenchymal hamartomas fluid-attenuated inversion recovery images were superior to ADC maps. It is believed that diffusion MRI can be useful in evaluation of various parenchymal changes associated with tuberous sclerosis. Further studies on tuberous sclerosis, and on various brain lesions, would provide increasing data on this relatively new MRI sequence. (orig.)

  9. Pulmonary lymphangioleiomyomatosis as a pulmonary manifestation of tuberous sclerosis - a case report-

    International Nuclear Information System (INIS)

    Lee, Young Rahn; Kang, Eun Young; Lee, Nam Joon; Suh, Won Hyuck

    1991-01-01

    Pulmonary lymphangioleiomyomatosis is a very rare disease mainly arising in reproductive-aged women. Pulmonary lymphangioleiomyomatosis as a pulmonary involvement of tuberous sclerosis is found in only 1 out of 100 patients. Pulmonary involvement in pulmonary lymphangioleiomyomatosis itself and that as a pulmonary manifestation of tuberous sclerosis has been considered very similar with regard to clinical, radiologic, and pathologic manifestations. We report 1 case of pulmonary lymphangioleiomyomatosis as a pulmonary manifestation of tuberous sclerosis in a 39-year-old Korean woman

  10. Clinical features and genetic analysis of tuberous sclerosis pedigrees

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    LI Ya-qin

    2012-06-01

    Full Text Available Objective In order to understand tuberous sclerosis complex better, the clinical manifestation, imaging characteristics, and genetic characteristics of tuberous sclerosis complex from 3 pedigrees were investigated. Methods The clinical data of patients from 3 tuberous sclerosis families were collected. The gene mutation type of TSC2 of proband in pedigree one was determined by PCR and direct gene sequencing. Results All of the 3 probands went to our clinic for the reason of epilepsy. Brain imaging examination noted intracranial nodular calcification. EEG showed comprehensive spines and slow waves, sharp waves. The pedigree 1 has family history, two male patients and 3 female patients, all had facial angiofibromas and epilepsy. Gene mutation analysis of TSC2 demonstrated the c.1444-2A > C mutation in index patient. All the 3 index patients had mental retardation, autism and hypopigmented macule. Conclusion For infants and young children with epilepsy as the first symptom, accompanied by mental retardation, autism, facial angiofibromas or hypopigmented macule and other skin abnormalities, brain imaging examination noted intracranial nodular calcification are highly suggestive of tuberous sclerosis complex. TSC1 and TSC2 gene analysis contribute to the diagnosis of this disease, genentic counseling and prenatal diagnosis.

  11. Multiple Cardiac Rhabdomyomas, Wolff-Parkinson-White Syndrome, and Tuberous Sclerosis: An Infrequent Combination

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    Castilla Cabanes, Elena; Lacambra Blasco, Isaac

    2014-01-01

    Cardiac rhabdomyomas are benign cardiac tumours and are often associated with tuberous sclerosis. They are often asymptomatic with spontaneus regresion but can cause heart failure, arrhythmias, and obstruction. There have also been a few isolated reports of Wolff-Parkinson-White syndrome occurring in association with tuberous sclerosis and the great majority has been detected in patients with concomitant rhabdomyomas. We report a 12-day-old infant girl with tuberous sclerosis who presented with intraparietal and intracavitary rhabdomyomas with a Wolff-Parkinson-White syndrome (WPW). She represents one of the few published cases of WPW syndrome and tuberous sclerosis and particularly interesting because of intramural rhabdomyomas regression with persistent intracavitary rhabdomyomas after two years of followup. PMID:25328743

  12. Multiple Cardiac Rhabdomyomas, Wolff-Parkinson-White Syndrome, and Tuberous Sclerosis: An Infrequent Combination

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    Elena Castilla Cabanes

    2014-01-01

    Full Text Available Cardiac rhabdomyomas are benign cardiac tumours and are often associated with tuberous sclerosis. They are often asymptomatic with spontaneus regresion but can cause heart failure, arrhythmias, and obstruction. There have also been a few isolated reports of Wolff-Parkinson-White syndrome occurring in association with tuberous sclerosis and the great majority has been detected in patients with concomitant rhabdomyomas. We report a 12-day-old infant girl with tuberous sclerosis who presented with intraparietal and intracavitary rhabdomyomas with a Wolff-Parkinson-White syndrome (WPW. She represents one of the few published cases of WPW syndrome and tuberous sclerosis and particularly interesting because of intramural rhabdomyomas regression with persistent intracavitary rhabdomyomas after two years of followup.

  13. PHAKOMATOSIS : INTRESTING CASES OF TUBEROUS SCLEROSIS WITH RETINAL ASTROCYTOMA

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    Srinivasa Rao

    2015-05-01

    Full Text Available NTRODUCTION: Tuberous sclerosis complex (TSC or Morbus Bourneville - Pringle disease is an autosomal dominant phakomatosis, first described by Desiree - Magloire Bourneville in 1880. Tuberous sclerosis is a genetic disorder characterized by the growth of numerous benign tumours in many parts of the body caused by mutations on either of two genes, TSC1 and TSC2. This rare genetic disorder is usually associated with a triad of seizures, mental retardation and cutaneous lesions. Approximately one half of all patients affected by TS develop at least one retinal astrocytoma in one eye. PRESENTATION OF CASES: In the department of ophthalmology, G.S.L M edical C ollege, Rajahmundry, we came across 3 cases of tuberous sclerosis involving multi organ systems. Out of 3 cases, 2 cases were reported to be familial and 1case is sporadic, with a history of epilepsy with angiofibromatosis lesions over the face, multiple ash - leaf lesions over the abdomen, renal angiomyolipomas, multiple subependymal nodules in brain and retinal astrocytic hamartomas in the retina. CONCLUSION: It is important to be cognizant of the likely presence of systemic and ocular pathology in a child with mental retardation and skin lesions. Identification of retinal phakomatosis during ocular evaluation in any suspected case of Tuberous sclerosis can aid in the establishment of the diagnosis of the disease

  14. Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    Freiberg, Florentina Joyce

    2016-09-01

    Full Text Available Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like dilation of lymphatic vessels and right-sided facial swelling with mild pain. Best-corrected vision was not impaired. Examination of the skin revealed three hypomelanotic macules and a lumbal Shagreen patch. Magnetic resonance imaging (MRI findings displayed minimal enhancement of buccal fat on the right side. Cranial and orbital MRI showed signal enhancement in the right cortical and subcortical areas. Genetic analysis revealed a heterozygous deletion encompassing exon 1 and 2 of the gene (tuberous sclerosis complex 1 gene, confirming the diagnosis of tuberous sclerosis complex.Conclusion: In conjunctival lymphangioma, tuberous sclerosis complex should be considered as the primary disease.

  15. Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis.

    Science.gov (United States)

    Jardine, P E; Clarke, M A; Super, M

    1996-01-01

    A mother and daughter with an initial diagnosis of tuberous sclerosis are described. The daughter presented with partial seizures at the age of 8 months. Computed tomography showed uncalcified periventricular nodules which on magnetic resonance imaging were ovoid, almost contiguous, of grey matter density, and did not enhance with gadolinium. Brain imaging of her asymptomatic mother was similar. Absence of severe mental retardation, extracranial hamartomas, and depigmented patches distinguishes familial bilateral periventricular nodular heterotopia (FNH) from tuberous sclerosis. FNH is probably inherited as an X linked dominant with lethality in males. Images Figure 1 Figure 2 PMID:8787433

  16. Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

    Directory of Open Access Journals (Sweden)

    Friedrich, Reinhard E.

    2014-11-01

    Full Text Available Tuberous sclerosis or tuberous sclerosis complex (TSC is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma and reduced intellectual capacity. Phenotype can vary considerably. Almost all patients with TSC have at least one characteristic dermatologic feature. Facial angiofibroma can cause severe disfigurement. It may involve the cheeks, perioral region and nose, resulting in thick layers of nodular and pustular skin. Aesthetic surgery of the face comprises an individually adapted ablation of the affected skin regions in order to improve physical appearance. Reports on the subject of surgery for nasal angiofibroma confirm the homogenous transformation of the connective tissues by this hamartoma. Hitherto there is only one report in the literature describing the typical epithelial alterations of the nasal skin compatible with a rhinophyma and adjacent angiofibroma. Here we report the successful electrosurgical treatment of a patient with TSC and extensive sebaceous glands giving rise to a rhinophyma in close association with angiofibroma.

  17. Significance of tuber size for complications of tuberous sclerosis complex.

    Science.gov (United States)

    Pascual-Castroviejo, I; Hernández-Moneo, J L; Pascual-Pascual, S I; Viaño, J; Gutiérrez-Molina, M; Velazquez-Fragua, R; Quiñones Tapia, D; Morales Bastos, C

    2013-01-01

    Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders. Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, mental retardation, and autistic behaviour. The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC. We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient. Four patients had voluminous tubers located in 1 or both cerebral hemispheres. All of these patients had intractable seizures and severe mental retardation; 3 of these cases also presented with autistic behaviour, despite tubers having been resected in all 4 patients. Thirteen patients had tubers of large-to-average size, and all patients in this group showed intractable seizures and mental retardation. Nine patients who had experienced infantile spasms during the first year of life presented autistic behaviour. Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes. Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features. Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, mental retardation and autistic behaviour), even when the smaller tubers are quite numerous. Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  18. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference.

    Science.gov (United States)

    Sahin, Mustafa; Henske, Elizabeth P; Manning, Brendan D; Ess, Kevin C; Bissler, John J; Klann, Eric; Kwiatkowski, David J; Roberds, Steven L; Silva, Alcino J; Hillaire-Clarke, Coryse St; Young, Lisa R; Zervas, Mark; Mamounas, Laura A

    2016-07-01

    On March 10 to March 12, 2015, the National Institute of Neurological Disorders and Stroke and the Tuberous Sclerosis Alliance sponsored a workshop in Bethesda, Maryland, to assess progress and new opportunities for research in tuberous sclerosis complex with the goal of updating the 2003 Research Plan for Tuberous Sclerosis (http://www.ninds.nih.gov/about_ninds/plans/tscler_research_plan.htm). In addition to the National Institute of Neurological Disorders and Stroke and Tuberous Sclerosis Alliance, participants in the strategic planning effort and workshop included representatives from six other Institutes of the National Institutes of Health, the Department of Defense Tuberous Sclerosis Complex Research Program, and a broad cross-section of basic scientists and clinicians with expertise in tuberous sclerosis complex along with representatives from the pharmaceutical industry. Here we summarize the outcomes from the extensive premeeting deliberations and final workshop recommendations, including (1) progress in the field since publication of the initial 2003 research plan for tuberous sclerosis complex, (2) the key gaps, needs, and challenges that hinder progress in tuberous sclerosis complex research, and (3) a new set of research priorities along with specific recommendations for addressing the major challenges in each priority area. The new research plan is organized around both short-term and long-term goals with the expectation that progress toward specific objectives can be achieved within a five to ten year time frame. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. mTOR Inhibition and Tuberous Sclerosis Prevention

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-09-01

    Full Text Available Investigators at Children's Memorial Health Institute, Warsaw, Poland, report monozygotic twin sisters with tuberous sclerosis complex (TSC, one treated with the mTOR inhibitor everolimus since age 4 years.

  20. Lymphangioleiomyomatosis and tuberous sclerosis with pulmonary involvement

    International Nuclear Information System (INIS)

    Pedrosa, I.; Saiz, A.; Bustos, A.; Hernando, F.

    2000-01-01

    We present two cases of pulmonary lumphangioleiomyomatosis and one case of tuberous sclerosis with pulmonary involvement describing the most characteristic features according to plain chest X-ray and high-resolution computed tomography (HRCT). (Author) 14 refs

  1. Unusual Cutaneous Manifestation of Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    K C Shah

    1980-01-01

    Full Text Available Cutaneous manifestations are found in 60 to 70% cases of tuberous sclerosis and consist of adenoma sebaceum, periungual fibromatas, cafe au lait spots, shagreen patches and white macules. Our patient showed unusual skin manifestations like spotty pigmentation on the chest, back and abdomen and hyperkeratosis palmaris et plantaris.

  2. The value of CT in genetic counseling in tuberous sclerosis

    International Nuclear Information System (INIS)

    Scotti, L.N.; Bartoletti, S.C.

    1980-01-01

    The families of two patients with known tuberous sclerosis were electively evaluated by computed tomography. The CT positive (and negative) examination proved to be valuable for the genetic counseling of family members without overt clinical manifestations of tuberous sclerosis. Two patients had evidence of smaller enhancing lesions (minimal demonstrable mass without hydrocephalus) following intravenous contrast enhancement. We, therefore, suggest the use of contrast enhanced scans in addition to the plain scans to identify what may represent occult neoplasms. Abdominal CT scans can prove useful in identifying the frequently associated renal hamartomas. (orig.) [de

  3. Pancreatic tumors in children and young adults with tuberous sclerosis complex

    International Nuclear Information System (INIS)

    Koc, Gonca; Sugimoto, Sam; Kammen, Bamidele F.; Karakas, S.P.; Kuperman, Rachel

    2017-01-01

    Pancreatic neuroendocrine tumors are not included in the diagnostic criteria for tuberous sclerosis complex, although an association has been described. To investigate the association of pancreatic neuroendocrine tumor in children and young adults with tuberous sclerosis complex and define MRI characteristics of the tumor. We retrospectively evaluated the abdominal MRI scans of 55 children and young adults with tuberous sclerosis complex for the presence of a pancreatic mass. The scans were performed over a period of 7 years to monitor renal pathology. We obtained each patient's clinical history and treatment protocol from the hospital's electronic medical records. A solid pancreatic mass was identified in 5/55 (9%, 95% confidence interval [CI] 3-20%) patients (4 male) with a mean age of 12.6 years. Four of the lesions were located in the pancreatic tail and one in the pancreatic body. All of the lesions were solid, ovoid and well demarcated, with a mean diameter of 3.1 cm. The masses uniformly demonstrated T1 and T2 prolongation, but their diffusion behavior and post-contrast enhancement varied. The two surgically resected lesions were synaptophysin (+) non-functional pancreatic neuroendocrine tumors on pathology. Two of the patients who did not have surgery were treated with everolimus; one of the lesions has shown interval decrease in size and the other has remained stable. Pancreatic tumor is relatively common in children and young adults with tuberous sclerosis complex. (orig.)

  4. Pancreatic tumors in children and young adults with tuberous sclerosis complex

    Energy Technology Data Exchange (ETDEWEB)

    Koc, Gonca [Erciyes University, School of Medicine, Department of Pediatric Radiology, Melikgazi, Kayseri (Turkey); Sugimoto, Sam; Kammen, Bamidele F.; Karakas, S.P. [UCSF Benioff Children' s Hospital, Department of Diagnostic Imaging, Oakland, CA (United States); Kuperman, Rachel [UCSF Benioff Children' s Hospital, Department of Pediatric Neurology, Oakland, CA (United States)

    2017-01-15

    Pancreatic neuroendocrine tumors are not included in the diagnostic criteria for tuberous sclerosis complex, although an association has been described. To investigate the association of pancreatic neuroendocrine tumor in children and young adults with tuberous sclerosis complex and define MRI characteristics of the tumor. We retrospectively evaluated the abdominal MRI scans of 55 children and young adults with tuberous sclerosis complex for the presence of a pancreatic mass. The scans were performed over a period of 7 years to monitor renal pathology. We obtained each patient's clinical history and treatment protocol from the hospital's electronic medical records. A solid pancreatic mass was identified in 5/55 (9%, 95% confidence interval [CI] 3-20%) patients (4 male) with a mean age of 12.6 years. Four of the lesions were located in the pancreatic tail and one in the pancreatic body. All of the lesions were solid, ovoid and well demarcated, with a mean diameter of 3.1 cm. The masses uniformly demonstrated T1 and T2 prolongation, but their diffusion behavior and post-contrast enhancement varied. The two surgically resected lesions were synaptophysin (+) non-functional pancreatic neuroendocrine tumors on pathology. Two of the patients who did not have surgery were treated with everolimus; one of the lesions has shown interval decrease in size and the other has remained stable. Pancreatic tumor is relatively common in children and young adults with tuberous sclerosis complex. (orig.)

  5. Tuberous sclerosis: Ultrasound, CT and MRI features of two cases with multiple organ involvement

    International Nuclear Information System (INIS)

    Arslan, A.; Ciftci, E.; Cetin, A.; Selcuk, H.; Demirci, A.

    1998-01-01

    The cases of two patients with tuberous sclerosis with multiple sites of involvement are presented. Both patients had characteristic cerebral lesions of tuberous sclerosis associated with bilateral renal angiomyolipomas and hepatic hamartomas. Additionally there were diffuse pulmonary cystic changes in one patient and cardiac rhabdomyoma in the other. Copyright (1998) Blackwell Science Pty Ltd

  6. Diagnosis, monitoring and treatment of tuberous sclerosis complex ...

    African Journals Online (AJOL)

    Diagnosis, monitoring and treatment of tuberous sclerosis complex: A South African consensus response to international guidelines. ... inhibitors to treat subependymal giant cell astrocytomas not amenable to surgery and renal angiomyolipomas larger than 3 cm, and as adjunctive treatment for refractory focal seizures.

  7. From mTOR to Cognition: Molecular and Cellular Mechanisms of Cognitive Impairments in Tuberous Sclerosis

    Science.gov (United States)

    Ehninger, D.; de Vries, P. J.; Silva, A. J.

    2009-01-01

    Background: Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the "TSC1" or "TSC2" gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. Method: Here, we review evidence from animal…

  8. Topical sirolimus for the treatment of angiofibromas in tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Salih Levent Cinar

    2017-01-01

    Full Text Available Background: The skin is one of the most affected organs in tuberous sclerosis complex and angiofibromas are seen in almost 80% of such patients. These benign tumors impose a great psycho-social burden on patients. Objective: The aim of the study was to evaluate the effectiveness and tolerability of topical sirolimus for facial angiofibromas in patients with tuberous sclerosis complex. Methods: This was a prospective, single-blinded, cross-over study which involved twelve patients. We investigated the effect and safety of topical 0.1% sirolimus, which was obtained by crushing sirolimus tablets and mixing it with petrolatum. The patients were asked to apply the cream to one side of their face, and vaseline to the other side. The effect of topical sirolimus was evaluated using the “facial angiofibroma severity index.” Results: There was a significant improvement in the redness and extension of the tumors on the sides to which the active ingredient was applied. Some side effects such as itching and irritation occurred in three patients, which were treated with topical hydrocortisone cream. Conclusion: Topical sirolimus appears to be a promising, fairly well tolerated treatment for facial angiofibromas in patients with tuberous sclerosis complex. Although its efficacy diminishes with time, repetitive usage is effective.

  9. Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.

    Directory of Open Access Journals (Sweden)

    Angelika Mühlebner

    Full Text Available Tuberous Sclerosis Complex (TSC is a genetic hamartoma syndrome frequently associated with severe intractable epilepsy. In some TSC patients epilepsy surgery is a promising treatment option provided that the epileptogenic zone can be precisely delineated. TSC brain lesions (cortical tubers contain dysmorphic neurons, brightly eosinophilic giant cells and white matter alterations in various proportions. However, a histological classification system has not been established for tubers. Therefore, the aim of this study was to define distinct histological patterns within tubers based on semi-automated histological quantification and to find clinically significant correlations. In total, we studied 28 cortical tubers and seven samples of perituberal cortex from 28 TSC patients who had undergone epilepsy surgery. We assessed mammalian target of rapamycin complex 1 (mTORC1 activation, the numbers of giant cells, dysmorphic neurons, neurons, and oligodendrocytes, and calcification, gliosis, angiogenesis, inflammation, and myelin content. Three distinct histological profiles emerged based on the proportion of calcifications, dysmorphic neurons and giant cells designated types A, B, and C. In the latter two types we were able to subsequently associate them with specific features on presurgical MRI. Therefore, these histopathological patterns provide consistent criteria for improved definition of the clinico-pathological features of cortical tubers identified by MRI and provide a basis for further exploration of the functional and molecular features of cortical tubers in TSC.

  10. Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.

    Science.gov (United States)

    Mühlebner, Angelika; van Scheppingen, Jackelien; Hulshof, Hanna M; Scholl, Theresa; Iyer, Anand M; Anink, Jasper J; van den Ouweland, Ans M W; Nellist, Mark D; Jansen, Floor E; Spliet, Wim G M; Krsek, Pavel; Benova, Barbora; Zamecnik, Josef; Crino, Peter B; Prayer, Daniela; Czech, Thomas; Wöhrer, Adelheid; Rahimi, Jasmin; Höftberger, Romana; Hainfellner, Johannes A; Feucht, Martha; Aronica, Eleonora

    2016-01-01

    Tuberous Sclerosis Complex (TSC) is a genetic hamartoma syndrome frequently associated with severe intractable epilepsy. In some TSC patients epilepsy surgery is a promising treatment option provided that the epileptogenic zone can be precisely delineated. TSC brain lesions (cortical tubers) contain dysmorphic neurons, brightly eosinophilic giant cells and white matter alterations in various proportions. However, a histological classification system has not been established for tubers. Therefore, the aim of this study was to define distinct histological patterns within tubers based on semi-automated histological quantification and to find clinically significant correlations. In total, we studied 28 cortical tubers and seven samples of perituberal cortex from 28 TSC patients who had undergone epilepsy surgery. We assessed mammalian target of rapamycin complex 1 (mTORC1) activation, the numbers of giant cells, dysmorphic neurons, neurons, and oligodendrocytes, and calcification, gliosis, angiogenesis, inflammation, and myelin content. Three distinct histological profiles emerged based on the proportion of calcifications, dysmorphic neurons and giant cells designated types A, B, and C. In the latter two types we were able to subsequently associate them with specific features on presurgical MRI. Therefore, these histopathological patterns provide consistent criteria for improved definition of the clinico-pathological features of cortical tubers identified by MRI and provide a basis for further exploration of the functional and molecular features of cortical tubers in TSC.

  11. Tuberous sclerosis complex in the Western Cape, South Africa: The ...

    African Journals Online (AJOL)

    107, No. 4. IN PRACTICE. Tuberous sclerosis complex (TSC) is a genetically inherited condition that manifests with benign non-invasive hamartomas in multiple .... Corticosteroids are the recommended treatment for infants with epileptic ...

  12. Peripapillar retinal hamartoma associated with tuberous sclerosis. Case report.

    Science.gov (United States)

    Hernández Pardines, F; Núñez Márquez, S; Fernández Montalvo, L; Serra Verdú, M C; Juárez Marroquí, A

    2018-03-01

    Tuberous sclerosis is a rare multisystemic disease with an autosomal dominant inheritance pattern. There are few documented cases in the literature of retinal hamartomas (astrocytomas) with aggressive progression in the context of this disease. A report is presented on a case of a 31 year-old male with unknown history of ophthalmic or systemic conditions, who referred to a history of 6 months of blurred vision in his right eye. This was caused by a unilateral retinal hamartoma due to an undiagnosed tuberous sclerosis. Multidisciplinary management, with the cooperation of Internal Medicine and the Oncology Department, is needed in these cases, as well as genetic counselling for affected patients. Complications are directly related to increased tumour size. Treatment does not seem to have any influence on the natural history of the disease. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Diffusion tensor imaging in children with tuberous sclerosis complex: tract-based spatial statistics assessment of brain microstructural changes.

    Science.gov (United States)

    Zikou, Anastasia K; Xydis, Vasileios G; Astrakas, Loukas G; Nakou, Iliada; Tzarouchi, Loukia C; Tzoufi, Meropi; Argyropoulou, Maria I

    2016-07-01

    There is evidence of microstructural changes in normal-appearing white matter of patients with tuberous sclerosis complex. To evaluate major white matter tracts in children with tuberous sclerosis complex using tract-based spatial statistics diffusion tensor imaging (DTI) analysis. Eight children (mean age ± standard deviation: 8.5 ± 5.5 years) with an established diagnosis of tuberous sclerosis complex and 8 age-matched controls were studied. The imaging protocol consisted of T1-weighted high-resolution 3-D spoiled gradient-echo sequence and a spin-echo, echo-planar diffusion-weighted sequence. Differences in the diffusion indices were evaluated using tract-based spatial statistics. Tract-based spatial statistics showed increased axial diffusivity in the children with tuberous sclerosis complex in the superior and anterior corona radiata, the superior longitudinal fascicle, the inferior fronto-occipital fascicle, the uncinate fascicle and the anterior thalamic radiation. No significant differences were observed in fractional anisotropy, mean diffusivity and radial diffusivity between patients and control subjects. No difference was found in the diffusion indices between the baseline and follow-up examination in the patient group. Patients with tuberous sclerosis complex have increased axial diffusivity in major white matter tracts, probably related to reduced axonal integrity.

  14. Diffusion tensor imaging in children with tuberous sclerosis complex: tract-based spatial statistics assessment of brain microstructural changes

    International Nuclear Information System (INIS)

    Zikou, Anastasia K.; Xydis, Vasileios G.; Tzarouchi, Loukia C.; Argyropoulou, Maria I.; Astrakas, Loukas G.; Nakou, Iliada; Tzoufi, Meropi

    2016-01-01

    There is evidence of microstructural changes in normal-appearing white matter of patients with tuberous sclerosis complex. To evaluate major white matter tracts in children with tuberous sclerosis complex using tract-based spatial statistics diffusion tensor imaging (DTI) analysis. Eight children (mean age ± standard deviation: 8.5 ± 5.5 years) with an established diagnosis of tuberous sclerosis complex and 8 age-matched controls were studied. The imaging protocol consisted of T1-weighted high-resolution 3-D spoiled gradient-echo sequence and a spin-echo, echo-planar diffusion-weighted sequence. Differences in the diffusion indices were evaluated using tract-based spatial statistics. Tract-based spatial statistics showed increased axial diffusivity in the children with tuberous sclerosis complex in the superior and anterior corona radiata, the superior longitudinal fascicle, the inferior fronto-occipital fascicle, the uncinate fascicle and the anterior thalamic radiation. No significant differences were observed in fractional anisotropy, mean diffusivity and radial diffusivity between patients and control subjects. No difference was found in the diffusion indices between the baseline and follow-up examination in the patient group. Patients with tuberous sclerosis complex have increased axial diffusivity in major white matter tracts, probably related to reduced axonal integrity. (orig.)

  15. Severe Neurological Involvement In Tuberous Sclerosis: A Report Of ...

    African Journals Online (AJOL)

    Tuberous sclerosis (TS) is a genetic disorder characterised by the triad of cutaneous lesions, epilepsy and mental retardation. TS is known to have a wide clinical spectrum, with some affected individuals having only the cutaneous manifestations, normal IQ and no seizures, while others are severely affected having ...

  16. Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis complex (TSC) : Evidence from layer-specific marker expression

    NARCIS (Netherlands)

    Mühlebner, Angelika; Iyer, Anand M.; Van Scheppingen, Jackelien; Anink, Jasper J.; Jansen, Floor E.; Veersema, Tim J.; Braun, Kees P.; Spliet, Wim G M; Van Hecke, Wim; Söylemezoǧlu, Figen; Feucht, Martha; Krsek, Pavel; Zamecnik, Josef; Bien, Christian G.; Polster, Tilman; Coras, Roland; Blümcke, Ingmar; Aronica, Eleonora

    2016-01-01

    Background: Tuberous sclerosis complex (TSC) is a multisystem disorder that results from mutations in the TSC1 or TSC2 genes, leading to constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathway. Cortical tubers represent typical lesions of the central nervous system

  17. A rare association of localized gigantism with tuberous sclerosis.

    Science.gov (United States)

    Reddy, B S; Sheriff, M O; Garg, B R; Ratnakar, C

    1992-10-01

    An unusual association of localized gigantism with hypertrophy of the long bones and soft tissues in the left lower limb in an 18-year-old male with tuberous sclerosis (TS) is reported. The significance of this association is discussed from the point of view of its common neural crest origin during embryogenesis.

  18. Co-Existence of Tuberous Sclerosis and the Fanconi Syndrome in Two Saudi Male Siblings: Report on Two Cases

    International Nuclear Information System (INIS)

    Al-Hwiesh, Abdulla K.; Al-Mueilo, Samir H.; Saeed, Ibrahim; Barak, Infal H.; Al-Muhanna, Fahd A.

    2005-01-01

    In this report, we present two cases of familial tuberous sclerosis co-existing with the Fanconi Syndrome. Both cases presented with history of failure to thrive and mental retardation associated with hypokalemic metabolic acidosis. To our knowledge, the association between tuberous sclerosis and the Fanconi Syndrome has not been reported previously. (author)

  19. An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

    NARCIS (Netherlands)

    Chopra, M.; Lawson, J.A.; Wilson, M.; Kennedy, S.E.; Taylor, P.; Buckley, M.F.; Wargon, O.; Parasivam, G.; Camphausen, C.; Yates, D.; Mowat, D.

    2011-01-01

    AIM: This study aims to describe the phenotypic and genotypic characteristics of 45 Australian patients with tuberous sclerosis complex (TSC), to assess risk factors for intellectual disability, to compare patients with TSC1 and TSC2 mutations and to assess adherence to surveillance recommendations.

  20. The incidence of hepatic hamartomas in tuberous sclerosis

    International Nuclear Information System (INIS)

    Fleury, P.; Smits, N.; Baal, S. van

    1987-01-01

    Our series of tuberous sclerosis patients consisted of 23 children between 6 and 16 years of age and of 13 patients between 16 and 48 years of age. In the former group the incidence of multiple hepatic haemangiomas, estimated by greyscale ultrasonography, is 13%, whereas this incidence is 23% in the group of older patients. The sign might be important for genetic counselling in formes frustes. (orig.) [de

  1. Recurrent meningitis associated with frontal sinus tuber encephalocele in a patient with tuberous sclerosis.

    Science.gov (United States)

    Elbabaa, Samer K; Riggs, Angela D; Saad, Ali G

    2011-07-01

    Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder that commonly affects the CNS. The most commonly associated brain tumors include cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas (SEGAs). The authors report an unusual case of recurrent meningitis due to a tuber-containing encephalocele via the posterior wall of the frontal sinus. An 11-year-old girl presented with a history of TSC and previous SEGA resection via interhemispheric approach. She presented twice within 4 months with classic bacterial meningitis. Cerebrospinal fluid cultures revealed Streptococcus pneumoniae. Computed tomography and MR imaging of the brain showed a right frontal sinus encephalocele via a posterior frontal sinus wall defect. Both episodes of meningitis were treated successfully with standard regimens of intravenous antibiotics. The neurosurgical service was consulted to discuss surgical options. Via a bicoronal incision, a right basal frontal craniotomy was performed. A large frontal encephalocele was encountered in the frontal sinus. The encephalocele was herniating through a bony defect of the posterior sinus wall. The encephalocele was ligated and resected followed by removing frontal sinus mucosa and complete cranialization of frontal sinus. Repair of the sinus floor was conducted with fat and pericranial grafts followed by CSF diversion via lumbar drain. Histopathology of the resected encephalocele showed a TSC tuber covered with respiratory (frontal sinus) mucosa. Tuber cells were diffusely positive for GFAP. The patient underwent follow-up for 2 years without evidence of recurrent meningitis or CSF rhinorrhea. This report demonstrates that frontal tubers of TSC can protrude into the frontal sinus as acquired encephaloceles and present with recurrent meningitis. To the authors' knowledge, recurrent meningitis is not known to coincide with TSC. Careful clinical and radiographic follow-up for frontal tubers in patients with TSC is

  2. Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex : A clinical epidemiological study

    NARCIS (Netherlands)

    S.E. Mous (Sabine); I.E. Overwater (Iris); R. Vidal Gato (Rita); J. Duvekot (Jorieke); L.W. ten Hoopen (Leontine); M. Leguin (Maarten); M.C.Y. de Wit (Marie Claire); G.C. Dieleman (Gwen)

    2017-01-01

    textabstractTuberous Sclerosis Complex (TSC) is characterized by a high prevalence of autism spectrum disorders (ASD). Little is known about the relation between cortical dysplasia and ASD severity in TSC. We assessed ASD severity (using the Autism Diagnostic Observation Scale), tuber and radial

  3. Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

    NARCIS (Netherlands)

    A.M.W. van den Ouweland (Ans)

    2011-01-01

    textabstractTuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in either TSC1 or TSC2. All types of mutations, including large

  4. Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

    NARCIS (Netherlands)

    Ouweland, A.M. van den; Elfferich, P.; Zonnenberg, B.A.; Arts, W.F.M.; Kleefstra, T.; Nellist, M.D.; Millan, J.M.; Withagen-Hermans, C.; Maat-Kievit, A.J.; Halley, D.J.

    2011-01-01

    Tuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in either TSC1 or TSC2. All types of mutations, including large rearrangements,

  5. Desmoplastic Fibroma Recurrence Associated with Tuberous Sclerosis in a Young Patient

    Directory of Open Access Journals (Sweden)

    A. M. Espinoza-Coronado

    2018-01-01

    Full Text Available Case Report. A nine-year-old patient with a diagnosis of tuberous sclerosis (with no pathological record that showed calcifications at the brain level. Besides, the case showed the Vogt triad (epilepsy, mental retardation, and sebaceous adenoma. The patient clinically showed a volume increase of hard consistency, without suppuration and no sessile that included the following teeth 73, 74, and 75. Cone beam computed tomography (CBCT was obtained, and it displayed a delimited unilocular lesion. After surgical excision, the histopathological report was desmoplastic fibroma (DF. It was observed that the patient had an aggressive recurrence of DF at four months after surgery treatment. Due to these clinical findings, resective osseous surgery and curettage were carried out. It is uncommon to find these two pathologies together (DF and tuberous sclerosis. Since DF is a benign pathology but very invasive and destructive, it is necessary a constant follow-up examination due to a high recurrence frequency.

  6. Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2006-01-01

    Full Text Available Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC. TSC is caused by mutations in the genes TSC1 and TSC2. We report a 28-year-old, gravida 5, para 2, woman with an uncomplicated pregnancy until prenatal ultrasound at 34 weeks' gestation revealed fetal cardiac tumors. Ultrafast magnetic resonance imaging (MRI at 36 weeks' gestation showed cardiac rhab-domyomas and small subependymal tubers. At 39 weeks' gestation, a 2262 g female infant was delivered uneventfully. Postnatal echocardiography confirmed cardiac rhabdomyomas and MRI verified small cerebral subependymal tubers. Mutational analysis of TSC1 and TSC2 genes using denaturing high-performance liquid chromatography and direct sequencing of the genes was performed and revealed that the parents had wildtype DNA, while the proband was heterozygous for a novel de novo nonsense mutation, c.4830 G > A, in exon 36 of the TSC2 gene, resulting in a change of codon 1610 TGG (tryptophan to TGA (stop codon. The mutation predicted a W1610X premature termination of the tuberin protein. These findings support an association between a TSC2 de novo nonsense mutation and prenatally detected cardiac rhabdomyomas and cerebral tuberous sclerosis. Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling.

  7. Lymphangioleiomyomatosis and tuberous sclerosis with pulmonary involvement; Linfangioleiomiomatosis y esclerosis tuberosa afectacion pulmonar

    Energy Technology Data Exchange (ETDEWEB)

    Pedrosa, I.; Saiz, A.; Bustos, A.; Hernando, F. [Hospital cinico. San Carlos. Madrid (Spain)

    2000-07-01

    We present two cases of pulmonary lumphangioleiomyomatosis and one case of tuberous sclerosis with pulmonary involvement describing the most characteristic features according to plain chest X-ray and high-resolution computed tomography (HRCT). (Author) 14 refs.

  8. Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex

    Energy Technology Data Exchange (ETDEWEB)

    Adriaensen, M.E.A.P.M., E-mail: miraude@gmail.com [Department of Radiology, Atrium Medical Center Parkstad, Heerlen (Netherlands); Department of Radiology, University Medical Center Utrecht, Utrecht (Netherlands); Schaefer-Prokop, C.M. [Department of Radiology, Meander Medical Center, Amersfoort (Netherlands); Duyndam, D.A.C. [Department of Radiology, OLVG, Amsterdam (Netherlands); Zonnenberg, B.A. [Department of Internal Medicine, University Medical Center Utrecht, Utrecht (Netherlands); Prokop, M. [Department of Radiology, University Medical Center Utrecht, Utrecht (Netherlands); Department of Radiology, Radboud University Nijmegen Medical Center, Nijmegen (Netherlands)

    2011-07-15

    Aim: To determine the gender-specific prevalence of pulmonary cysts typical for lymphangioleiomyomatosis (LAM) in adult patients with known tuberous sclerosis complex (TSC). Materials and methods: A retrospective, cross-sectional study in a cohort of 206 adult TSC patients was performed. Institutional review board approval was obtained, and patient informed consent was waived. Patients had routinely undergone abdominal CT scanning between 1996 and 2006. All 186 patients (mean age 38 years; range 19-72 years; 91 (49%) male patients) in whom at least the lung bases were depicted on computed tomography (CT) were included. Images were reviewed for the presence of pulmonary thin-walled cysts. Descriptive statistics, two sample t-test to compare means, and {chi}{sup 2}-test to compare proportions were applied. Results: CT demonstrated pulmonary thin-walled cysts in the lung bases in 52 (28%) of 186 patients. Size varied from 2 mm in diameter to more than 2 cm. Pulmonary cysts were detected in 40 (42%) of 95 female patients and in 12 (13%) of 91 male patients (p < 0.001). In general, cysts were larger and more numerous in women than in men. Only minimal cystic changes were found in four women and two men, moderate cystic changes were seen in three women and seven men, but considerable cystic changes were seen almost exclusively in women (33 women versus three men). Conclusion: CT demonstrated thin-walled pulmonary cysts in the lung bases in 28% of 186 included patients with tuberous sclerosis complex. Female patients were more affected than male patients.

  9. Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex

    International Nuclear Information System (INIS)

    Adriaensen, M.E.A.P.M.; Schaefer-Prokop, C.M.; Duyndam, D.A.C.; Zonnenberg, B.A.; Prokop, M.

    2011-01-01

    Aim: To determine the gender-specific prevalence of pulmonary cysts typical for lymphangioleiomyomatosis (LAM) in adult patients with known tuberous sclerosis complex (TSC). Materials and methods: A retrospective, cross-sectional study in a cohort of 206 adult TSC patients was performed. Institutional review board approval was obtained, and patient informed consent was waived. Patients had routinely undergone abdominal CT scanning between 1996 and 2006. All 186 patients (mean age 38 years; range 19-72 years; 91 (49%) male patients) in whom at least the lung bases were depicted on computed tomography (CT) were included. Images were reviewed for the presence of pulmonary thin-walled cysts. Descriptive statistics, two sample t-test to compare means, and χ 2 -test to compare proportions were applied. Results: CT demonstrated pulmonary thin-walled cysts in the lung bases in 52 (28%) of 186 patients. Size varied from 2 mm in diameter to more than 2 cm. Pulmonary cysts were detected in 40 (42%) of 95 female patients and in 12 (13%) of 91 male patients (p < 0.001). In general, cysts were larger and more numerous in women than in men. Only minimal cystic changes were found in four women and two men, moderate cystic changes were seen in three women and seven men, but considerable cystic changes were seen almost exclusively in women (33 women versus three men). Conclusion: CT demonstrated thin-walled pulmonary cysts in the lung bases in 28% of 186 included patients with tuberous sclerosis complex. Female patients were more affected than male patients.

  10. Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex

    NARCIS (Netherlands)

    I.E. Overwater (Iris); Verhaar, B.J.H.; H.F. Lingsma (Hester); G.C.B. Bindels-de Heus (Karen); A.M.W. van den Ouweland (Ans); M.D. Nellist (Mark); L.W. ten Hoopen (Leontine); Y. Elgersma (Ype); H.A. Moll (Henriëtte); M.C.Y. de Wit (Marie Claire)

    2017-01-01

    textabstractCognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this study was to confirm factors that have been reported to be independently correlated with

  11. 结节性硬化症所致精神障碍1例%Psychiatric symptoms in an individual with tuberous sclerosis

    Institute of Scientific and Technical Information of China (English)

    Qiaojin LIU; Jinli GAO

    2012-01-01

    Tuberous sclerosis is a rare disorder with no specific treatment. In some cases psychological symptoms are the initial presenting symptoms, making the differential diagnosis difficult. We describe a patient with tuberous sclerosis who developed psychiatric symptoms and discuss the use of low-dose quetiapine to control her emotional and behavioral symptoms.

  12. Comprehensive analysis of gene mutation and phenotype of tuberous sclerosis complex in China

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    Guo-qiang HUANG

    2015-04-01

    Full Text Available Objective To summarize the clinical features of tuberous sclerosis complex (TSC, the distribution and description of TSC gene, and to probe into the correlation of genotype with phenotype.  Methods According to the 1998 International Tuberous Sclerosis Complex Diagnostic Criteria, a total of 163 TSC patients with pathogenic mutation in TSC gene (3 cases were detected in our hospital, and the other 160 cases were collected from other institutions in China were enrolled, and their gene detection results and clinical data were analyzed.  Results Among 163 cases, TSC1 mutation (31 cases accounted for 19.02% [32.26% (10/31 in exon 15, 16.13% (5/31 in exon 21, 12.90% (4/31 in exon 18], and TSC2 mutation (132 cases accounted for 80.98% [9.85% (13/132 in exon 37, 7.58% (10/132 in exon 40, 6.82%(9/132 in exon 33]. The proportion of base replacement in TSC1 was 41.94% (13/31, and 52.27% (69/132 in TSC2. Male patients exhibited significantly more subependymal nodules or calcifications than thefemale patients (χ2 = 8.016, P = 0.005. Sporadic patients exhibited significantly more cortical tubers than familial patients (χ2 = 6.273, P = 0.012. Patients with TSC2 mutations had significantly higher frequencies of hypomelanotic macules than patients with TSC1 mutations (χ2 = 6.756, P = 0.009. Patients with missense mutations were more likely to have facial angiofibromas compared with patients with other mutations (χ2 = 4.438, P = 0.035.  Conclusions Exon 15, 21 and 18 of TSC1 and exon 37, 40 and 33 of TSC2 accounted for higher percentage of mutations. Correlating genotypes with phenotypes should facilitate the individualized treatment and prognostic assessment of tuberous sclerosis complex. DOI: 10.3969/j.issn.1672-6731.2015.04.013

  13. Neuroimage in neuroecthodermic diseases Part II: Tuberous Sclerosis

    International Nuclear Information System (INIS)

    Menor, F.; Marti-Bonmati, L.; Poyatos, C.; Cortina, H.; Esteban, J.M.; Vilar, J.

    1993-01-01

    A prospective clinicoradiological study has been carried out in 36 patients with tuberous sclerosis. The neuroimaging studies detected some type of disorder in 94% of patients, contributing significantly to the positive diagnosis of the disease. CT was better for viewing periventricular nodules, while MR was more reliable in disclosing the number and location of cortical and white matter lesions. The use of gadolinium-DTPA in MR demonstrated frequent uptake by the periventricular nodules which was exceptional in the cortical and subcortical lesions. The use of contrast, both in CT and in MR, enhanced the images of the 7 presumed giant-cell astrocytomas detected in 6 patients. Uptake by the tumors was always much greater than that observed in the nodules, being and important criterion for the differentiation between nodules and small tumors. The appearance and topography of these CNS lesions can be reasonably well explained by considering the disease to be a disorder of the migration of dysgenic cells. We have found no consistent correlation between the neuroradiological findings and the clinical evolution of the patients. MR and CT are similarly useful in the diagnosis of tuberous sclerosis. Given that MR is more effective in the detection of the set of intracranial lesions, it could be used as the initial technique, resorting to CT in those cases in which the clinical evidence is highly suggestive and the MR study is negative. Periodic MR control is not justified unless there is suspicion of tumor implantation or growth

  14. Coincidence of tuberous sclerosis and systemic lupus erythematosus-a case report.

    Science.gov (United States)

    Carrasco Cubero, Carmen; Bejarano Moguel, Verónica; Fernández Gil, M Ángeles; Álvarez Vega, Jose Luis

    2016-01-01

    Tuberous sclerosis, also called Bourneville Pringle disease, is a phakomatosis with potential dermal, nerve, kidney and lung damage. It is characterized by the development of benign proliferations in many organs, which result in different clinical manifestations. It is associated with the mutation of two genes: TSC1 (hamartin) and TSC2 (tuberin), with the change in the functionality of the complex target of rapamycin (mTOR). MTOR activation signal has been recently described in systemic lupus erythematosus (SLE) and its inhibition could be beneficial in patients with lupus nephritis. We report the case of a patient who began with clinical manifestations of tuberous sclerosis complex (TSC) 30 years after the onset of SLE with severe renal disease (tipe IV nephritis) who improved after treatment with iv pulses of cyclophosphamide. We found only two similar cases in the literature, and hence considered the coexistence of these two entities of great interest. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  15. Role of CTGF in White Matter Development in Tuberous Sclerosis

    Science.gov (United States)

    2016-04-01

    which lacks Tsc1 expression only in neurons . Here we show that, neurons lacking Tsc1 secrete excessive amounts of connective tissue growth factor...that, neurons lacking Tsc1 secrete excessive amounts of connective tissue growth factor (CTGF), which in turn blocks the maturation of...Columbia University Medical Center New York, NY 2015 Neuronal Connectivity in Tuberous Sclerosis / Keynote Stanley Manne Children’s Research Institute

  16. Tri-filial presentation of familial tuberous sclerosis with renal tumors

    International Nuclear Information System (INIS)

    Ghoshal, Sushil R; Chatterjee, Shankar D; Ray, Saugata; Chakraborty, Swarup; Achar, Arun; Pathak, TK

    2009-01-01

    Tuberous sclerosis is a rare neuro-cutaneous syndrome with autosomal dominant penetrance. Only some organs are involved, e.g., skin (earthy skin thickenings, ash leaf patches), cerebral cortex (hamartomatous nodules) and kidneys, (angiolipoma, adenocarcinoma). These hamartomatous swellings resemble potatoes and hence, referred to as tubers. We herein report on three patients (all familial), father, son and granddaughter, with this rare involvement, from the eastern part of India. The father and son had involvement of only the skin (i.e. nose) and kidneys while the disease penetrated further in the subsequent filial generations with son and granddaughter having skin, brain and bilateral kidney involvement. This kind of tri-filial progression has not till date, been reported from this region, making it an interesting case presentation. (author)

  17. Volumetric localization of epileptic activities in tuberous sclerosis using synthetic aperture magnetometry

    Energy Technology Data Exchange (ETDEWEB)

    Xiao, Zheng [Hospital for Sick Children, Research Institute, Toronto (Canada); Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); Xiang, Jing [Hospital for Sick Children, Research Institute, Toronto (Canada); Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); Holowka, Stephanie; Chuang, Sylvester [Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); Hunjan, Amrita; Sharma, Rohit; Otsubo, Hiroshi [Hospital for Sick Children, Division of Neurology, Toronto (Canada)

    2006-01-01

    Magnetoencephalography (MEG) is a novel noninvasive technique for localizing epileptic zones. Tuberous sclerosis complex (TSC) is often associated with medically refractory epilepsy with multiple epileptic zones. Surgical treatment of TSC requires accurate localization of epileptogenic tubers. The objective of this study was to introduce a new MEG technique, synthetic aperture magnetometry (SAM), to volumetrically localize irritable zones and clarify the correlations between SAM, dipole modeling and anatomical tubers. Eight pediatric patients with TSC confirmed by clinical and neuroimaging findings were retrospectively studied. MEG data were recorded using a whole-cortex CTF OMEGA system. Sleep deprivation was employed to provoke epileptiform activity. Irritable zones were localized using both dipole modeling and SAM. MRI detected 42 tubers in the eight patients. Dipole modeling localized 28 irritable zones, and 19 out of the 28 zones were near tubers (19/42, 45%). SAM found 51 irritable zones, and 31 out of the 51 zones were near tubers (31/42, 74%). Among the 51 irritable zones determined by SAM, thirty-five zones were in 1-35 Hz, nine zones were in 35-60 Hz, and seven zones were in 60-120 Hz. The new method, SAM, yielded very plausible equivalent sources for patients who showed anatomical tubers on MRI. Compared to conventional dipole modeling, SAM appeared to offer increased detection of irritable zones and beneficial volumetric and frequency descriptions. (orig.)

  18. Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

    Directory of Open Access Journals (Sweden)

    Clévia Rosset

    Full Text Available Tuberous sclerosis complex (TSC is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, following a second hit in a tumor suppressor gene in most hamartomas. Comprehensive screening for mutations in both the TSC1 and TSC2 loci has been performed in several cohorts of patients and a broad spectrum of pathogenic mutations have been described. In Brazil, there is no data regarding incidence and prevalence of tuberous sclerosis and mutations in TSC1 and TSC2. We analyzed both genes in 53 patients with high suspicion of tuberous sclerosis using multiplex-ligation dependent probe amplification and a customized next generation sequencing panel. Confirmation of all variants was done by the Sanger method. We identified 50 distinct variants in 47 (89% of the patients. Five were large rearrangements and 45 were point mutations. The symptoms presented by our series of patients were not different between male and female individuals, except for the more common occurrence of shagreen patch in women (p = 0.028. In our series, consistent with other studies, TSC2 mutations were associated with a more severe phenotypic spectrum than TSC1 mutations. This is the first study that sought to characterize the molecular spectrum of Brazilian individuals with tuberous sclerosis.

  19. Tri-filial presentation of familial tuberous sclerosis with renal tumors

    Directory of Open Access Journals (Sweden)

    Ghoshal Sushil

    2009-01-01

    Full Text Available Tuberous sclerosis is a rare neuro-cutaneous syndrome with autosomal dominant penetrance. Only some organs are involved, e.g., skin (earthy skin thickenings, ash leaf patches, cerebral cortex (hamartomatous nodules and kidneys, (angiolipoma, adenocarcinoma. These hamar-tomatous swellings resemble potatoes and hence, referred to as tubers. We herein report on three patients (all familial, father, son and granddaughter, with this rare involvement, from the eastern part of India. The father and son had involvement of only the skin (i.e. nose and kidneys while the disease penetrated further in the subsequent filial generations with son and granddaughter having skin, brain and bilateral kidney involvement. This kind of tri-filial progression has not till date, been reported from this region, making it an interesting case presentation.

  20. Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements.

    Science.gov (United States)

    Teng, Joyce M C; Cowen, Edward W; Wataya-Kaneda, Mari; Gosnell, Elizabeth S; Witman, Patricia M; Hebert, Adelaide A; Mlynarczyk, Greg; Soltani, Keyoumars; Darling, Thomas N

    2014-10-01

    The 2012 International Tuberous Sclerosis Complex Clinical Consensus Conference was convened to update the last consensus statement in 1998. Skin and dental lesions are common in tuberous sclerosis complex (TSC) and are a frequent concern for patients. Recognition of these lesions is imperative for early diagnosis, given the treatment advances that may improve patient outcomes. To detail recommendations for the diagnosis, surveillance, and management of skin and dental lesions in TSC. The TSC Dermatology and Dentistry Subcommittee, 1 of 12 subcommittees, reviewed the relevant literature from 1997 to 2012. A consensus on skin and dental issues was achieved within the Dermatology and Dentistry Subcommittee before recommendations were presented, discussed, and agreed on in a group meeting of all subcommittees from June 14 to 15, 2012. Skin and dental findings comprise 4 of 11 major features and 3 of 6 minor features in the diagnostic criteria. A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options presented include surgical excision, laser(s), or use of a mammalian target of rapamycin inhibitor.

  1. Clinical image of tuberous sclerosis child and its parents

    International Nuclear Information System (INIS)

    Mimaki, Takashi; Ono, Jiro; Abe, Jiro; Onoe, Sachiko; Tagawa, Tetsuzo; Yabuuchi, Hyakuji

    1983-01-01

    Clinical findings of 20 patients with tuberous sclerosis (TS) were evaluated. Cranial CT scan revealed multiple calcification in all the cases. In 8 of the 20 TS patients, 15 parents of the patients were examined, and some symptoms of ST were found in 25%. However, the cranial CT provided no characteristic findings of TS. This suggests that checking of clinical symptoms such as adenoma sevaceum and others as well as cranial CT is important for analysis of familial occurrence of the disease and genetic counseling for that. (Ueda, J.)

  2. Tuberous sclerosis complex in a child: diagnosis and management

    Directory of Open Access Journals (Sweden)

    Prastiya Indra Gunawan

    2010-06-01

    Full Text Available Tuberous sclerosis complex (TSC is a multisystem, autosomal dominant disorder affecting children and adults, resulted from mutations in one of two genes, TSC1 (encoding hamartin or TSC2 (encoding tuberin genes located on chromosomes 9 and 16 respectively.1,2 Synonyms of TSC are Bourneville Pringle syndrome, epiloia, or tuberosclerosis. This disorder is characterized by seizures, mental disability, and small noncancerous tumors on the skin and other body tissues, such as brain, eye, lung, and kidney. The classic triad are seizures, mental retardation, and cutaneous angiofibromas.3

  3. Diffusion tensor imaging in children and adolescents with tuberous sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Karadag, Demet [Institute of Diagnostic and Interventional Radiology, Friedrich Schiller University, Department of Paediatric Radiology, Jena (Germany); Kirikkale Yuksek Ihtisas Hospital, Department of Radiology, Kirirkale (Turkey); Mentzel, Hans-J.; Loebel, Ulrike; Reichenbach, Juergen R.; Kaiser, Werner A. [Institute of Diagnostic and Interventional Radiology, Friedrich Schiller University, Department of Paediatric Radiology, Jena (Germany); Guellmar, Daniel [Institute of Diagnostic and Interventional Radiology, Friedrich Schiller University, Department of Paediatric Radiology, Jena (Germany); Friedrich Schiller University, Biomagnetic Centre, Clinic of Neurology, Jena (Germany); Rating, Tina; Brandl, Ulrich [Friedrich Schiller University, Department of Paediatric Neurology, Jena (Germany)

    2005-10-01

    Tuberous sclerosis (TS) is characterised by benign hamartomatous lesions in many organs. Diffusion tensor imaging (DTI) can detect microstructural changes in pathological processes. To determine apparent diffusion coefficient (ADC) and fractional anisotropy (FA) maps in children with TS and to investigate the diffusion properties in cortical tubers, white-matter lesions, perilesional white matter, and contralateral normal-appearing white matter, and to compare the results with ADC and FA maps of normal age- and sex-matched volunteers. Seven children and adolescents (age range 2-20 years) suffering from TS were included. MRI was performed on a 1.5-T scanner using a transmit/receive coil with T1-W and T2-W spin-echo and FLAIR sequences. DT images were acquired by using a single-shot echo-planar pulse sequence. Diffusion gradients were applied in six different directions with a b value of 1,000 s/mm{sup 2}. ADC was higher in cortical tubers than in the corresponding cortical location of controls. ADC values were higher and FA values were lower in white-matter lesions and perilesional white matter than in both the contralateral normal-appearing white matter of patients and in controls. There were no significant differences for both ADC and FA values in the normal-appearing white matter of patients with TS compared to controls. DTI provides important information about cortical tubers, white-matter abnormalities, and perilesional white matter in patients with TS. (orig.)

  4. [Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype].

    Science.gov (United States)

    Monteiro, T; Garrido, C; Pina, S; Chorão, R; Carrilho, I; Figueiroa, S; Santos, M; Temudo, T

    2014-11-01

    Tuberous sclerosis (TS) is an inherited disorder with multisystemic involvement and a high phenotypic variability. There are two genes that cause this condition: TSC1 and TSC2. Our goal was to clinically characterize patients with TS followed up in the Pediatric Neurology Clinic of a tertiary hospital during the last 10 years, and correlate the genotype with the severity of neurological manifestations and imaging studies. Retrospective analysis of patients with TS, including review of medical records and available MRI imaging. We studied 35 cases with a median age at diagnosis of ten months. Seizures were the first manifestation in 91.4% of cases, with a predominance of epileptic spasms. Over 50% had cognitive impairment and 49% behavioral disorders. A genetic study was performed on 24 children, and TSC2 mutations identified in 58.3% of them. Of the 11 cases of refractory epilepsy, six had the TSC2 gene mutation. In the group of eight patients with moderate/severe cognitive deficits, five had TSC2 mutations. We reviewed 26 MRI scans, in which it was observed that 76.9% had diffuse involvement of cerebral lobes, which reflects a greater burden of injury. Of the patients who had an MRI scan performed and had TSC2 mutations, all had a high tuber load, and5 of them had refractory epilepsy. In our sample we observe a high percentage of mutations in the TSC2 gene. This mutation carries a worse neurological prognosis, with drug-resistant epilepsy and a more severe cognitive impairment. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  5. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream.

    Science.gov (United States)

    Sahin, Mustafa

    2012-10-01

    Genetic disorders that present with a high incidence of autism spectrum disorders (ASD) offer tremendous potential both for elucidating the underlying neurobiology of ASD and identifying therapeutic drugs and/or drug targets. As a result, clinical trials for genetic disorders associated with ASD are no longer a hope for the future but rather an exciting reality whose time has come. Tuberous sclerosis complex (TSC) is one such genetic disorder that presents with ASD, epilepsy, and intellectual disability. Cell culture and mouse model experiments have identified the mTOR pathway as a therapeutic target in this disease. This review summarizes the advantages of using TSC as model of ASD and the recent advances in the translational and clinical treatment trials in TSC. Copyright © 2012 Elsevier Ltd. All rights reserved.

  6. Mulberry Tumors in Retina and Nasal Hamartoma in a Patient With Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    S. Reshadat

    2008-10-01

    Full Text Available Introduction: Tuberous Sclerosis (TS is an autosomal dominant disease that affects the brain, skin, eye, heart, kidney even bones. The commonest presentation is seizures in infancy or early childhood (in 80% of cases, mental retardation (in 44%of cases. Characteristic skin lesion includes facial angiofibromas, adenoma sebaceum, hypopigmented macules, shagreen patches ungual ungual fibromas, ash leaf spots, cafe'-au-lait spots.Case Report: A nine years old male was admitted in a pediatric hospital because of the status myoclonic seizures. Seizures had been started since infancy. In physical exam he had some hypopigmented macules, cafe'-au-lait spots and ash leaf lesions, frontal fibrosis and also shagreen patches. Patient was a case of mild mentally retardation with no any focal neurological deficit. Computed tomography scan of brain and MRI imaging revealed sub ependymal tubers with multiple calcification in both sides of parietal region. Electroencephal-ogram recording suggested abnormal spike, sharp wave discharges and lennox-Gastaut pattern. The diagnosis based on the history and physical exam and MRI were tuberous sclerosis. His foundoscopic exam revealed two prominent calcified mass around right optic disc in supratemporal arch, left eye was normal. Retinal angiography revealed the mulberry tumors and right phakoma of retina. Conclusion: Computed tomography also revaled the nasal hamartoma. Histopathologic examination confirmed the diagnosis of angiomyolipoma because the lesion was composed of smooth muscle bundles, mature adipose tissue and blood vessels of different sizes. He remained seizures free after treatment.

  7. Molecular Mechanisms Underlying the Epileptogenesis and Seizure Progression in Tuberous Sclerosis Complex 1 Deficient Mouse Models

    Science.gov (United States)

    2016-10-01

    dysregulation in epileptogenesis in the developing brain? 2) What are the molecular mechanisms downstream of mTOR hyperactivation that trigger epileptogenesis...underlying epilepsy. Hopefully, a knowledge of these mechanisms will aid in a rational development of therapies. KEYWORDS Tuberous Sclerosis, Epilepsy

  8. White matter cysts in patients with tuberous sclerosis

    International Nuclear Information System (INIS)

    Marti-Bonmati, L.; Dosda, R.; Menor, F.; Arana, E.; Poyatos, C.

    1999-01-01

    The presence of cysts in the white matter of the central nervous system of patients with tuberous sclerosis (TS) is an uncommon finding that has been reported only recently in neuroimaging studies. This article assesses the prevalence of these lesions in a large series of patients studied by magnetic resonance imaging (MRI) and their relationship to other epidemiological and imaging findings. MRI studies were performed in 46 patients (23 males and 23 females) with a mean age of 12.7 years, and the results were examined retrospectively in the search for cortical tubers, subependymal nodules and white matter nodules, lines and cysts. Nine patients (19.6%) presented cysts in white matter. Seven had only one cyst and the remaining two patients each had two. Multiple regression analysis relating the presence of the cysts with other neuroimaging findings in these patients revealed a statistically significant relationship only with white matter nodules (odds ratio: 7.5; p=0.006). White matter cysts are small, supratentorial lesions of deep location. There is a statistically relationship between the presence of these cysts and that of nodular lesions in the white matter. This finding supports the theory that the cyst originate from white matter nodules. (Author) 17 refs

  9. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

    OpenAIRE

    Sahin, Mustafa

    2012-01-01

    Genetic disorders that present with a high incidence of autism spectrum disorders (ASD) offer tremendous potential both for elucidating the underlying neurobiology of ASD and identifying therapeutic drugs and/or drug targets. As a result, clinical trials for genetic disorders associated with ASD are no longer a hope for the future but rather an exciting reality whose time has come. Tuberous sclerosis complex (TSC) is one such genetic disorder that presents with ASD, epilepsy, and intellectual...

  10. Tuberous sclerosis: A clinicoradiological evaluation of 110 cases with particular reference to atypical presentation

    International Nuclear Information System (INIS)

    Kingsley, D.P.E.; Kendall, B.E.; Fitz, C.R.; Hospital for Sick Children, London

    1986-01-01

    CT scans on 110 children with a diagnosis of tuberous sclerosis have been compared with the clinical features of the disease. Patients with definite radiological as well as definite or suggestive clinical features accounted for only 80% of cases. 16% had positive radiological and negative clinical features and 4% had positive clinical and negative radiological features. There is little relationship between the mental development and the incidence of periventricular tubers or cortical and parenchymal lesions. In 15 patients older than 7 years the diagnosis was only made at the time of CT. Cerebral atrophy was not a prominent feature. Giant cell astrocytomas were present in 14%, one third of whom presented for the first time. (orig.)

  11. Tuberous Sclerosis Syndrome

    Science.gov (United States)

    ... starting. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... skin Tubers, or thickened areas, found in the brain Nodules (round growths) found in the brain Subependymal ...

  12. Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Schönewolf-Greulich, Bitten; Rosengren, Thomas

    2017-01-01

    TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). We describe a 3-generation family with 17 affected members, all presenting classic TSC features except renal manifestations. The disease segregates with a silent substitution in TSC2, c.4149C>T, p.(Ser1838Ser), whic...

  13. The pathogenesis and imaging of the tuberous sclerosis complex

    International Nuclear Information System (INIS)

    Baskin, Henry J.

    2008-01-01

    Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by the formation of hamartomatous lesions in multiple organ systems. It is the second most common neurocutaneous syndrome after neurofibromatosis type 1 and has been recognized since the late 1800s. Although the disease has complete penetrance, there is also high phenotypic variability: some patients have obvious signs at birth, while others remain undiagnosed for many years. In addition to skin lesions, TSC patients develop numerous brain lesions, angiomyolipoma (AMLs), lymphangiomyomatosis (LAM) in the lungs, cardiac rhabdomyomas, skeletal lesions, and vascular anomalies, all of which are well seen with medical imaging. Our knowledge of TSC genetics and pathophysiology has expanded dramatically in recent years: two genetic loci were discovered in the 1990s and recent elucidation of TSC's interaction with the mTOR pathway has changed how we manage the disease. Meanwhile, medical imaging is playing an increasingly important role in the diagnosis, management, and treatment of TSC. We provide an update on the genetics and pathophysiology of TSC, review its clinical manifestations, and explore the breadth of imaging features in each organ system, from prenatal detection of cardiac rhabdomyomas to monitoring rapamycin therapy to treatment of AMLs by interventional radiology. (orig.)

  14. The pathogenesis and imaging of the tuberous sclerosis complex

    Energy Technology Data Exchange (ETDEWEB)

    Baskin, Henry J. [Cincinnati Children' s Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2008-09-15

    Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by the formation of hamartomatous lesions in multiple organ systems. It is the second most common neurocutaneous syndrome after neurofibromatosis type 1 and has been recognized since the late 1800s. Although the disease has complete penetrance, there is also high phenotypic variability: some patients have obvious signs at birth, while others remain undiagnosed for many years. In addition to skin lesions, TSC patients develop numerous brain lesions, angiomyolipoma (AMLs), lymphangiomyomatosis (LAM) in the lungs, cardiac rhabdomyomas, skeletal lesions, and vascular anomalies, all of which are well seen with medical imaging. Our knowledge of TSC genetics and pathophysiology has expanded dramatically in recent years: two genetic loci were discovered in the 1990s and recent elucidation of TSC's interaction with the mTOR pathway has changed how we manage the disease. Meanwhile, medical imaging is playing an increasingly important role in the diagnosis, management, and treatment of TSC. We provide an update on the genetics and pathophysiology of TSC, review its clinical manifestations, and explore the breadth of imaging features in each organ system, from prenatal detection of cardiac rhabdomyomas to monitoring rapamycin therapy to treatment of AMLs by interventional radiology. (orig.)

  15. The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines

    International Nuclear Information System (INIS)

    Eeghen, Agnies M. van; Teran, Laura Ortiz; Johnson, Jason; Caruso, Paul; Pulsifer, Margaret B.; Thiele, Elizabeth A.

    2013-01-01

    The contribution of radial migration lines (RMLs) to the neuroanatomical and neurocognitive phenotype of tuberous sclerosis complex (TSC) is unclear. The aim of this study was to perform a comprehensive evaluation of the neuroradiological phenotype of TSC, distinguishing RMLs from normal-appearing white matter (NAWM) using diffusion tensor imaging (DTI) and volumetric fluid-attenuated inversion recovery imaging. Magnetic resonance images of 30 patients with TSC were evaluated. The frequencies of RMLs, tubers, and subependymal nodules (SENs) were determined for every hemispheric lobe. Cerebellar lesions and subependymal giant cell tumors were counted. DTI metrics were obtained from the NAWM of every hemispheric lobe and from the largest RML and tuber. Analyses of variance and correlations were performed to investigate the associations between neuroanatomical characteristics and relationships between RML frequency and neurocognitive outcomes. NAWM DTI metrics were compared with measurements of 16 control patients. A mean of 47 RMLs, 27 tubers, and 10 SENs were found per patient, and the frequencies of these lesions were strongly correlated (p < 0.001). RML fractional anisotropy and mean diffusivity were strongly inversely correlated (p = 0.003). NAWM DTI metrics were similar to the controls (p = 0.26). RML frequency was strongly associated with age of seizure onset (p = 0.003), intelligence outcomes (p = 0.01), and level of autistic features (p = 0.007). A detailed neuroradiological phenotype is presented, showing that RMLs are the most frequent neuroanatomical lesion, are responsible for white matter DTI abnormalities, and are strongly associated with age of seizure onset, intelligence outcomes, and level of autistic features. (orig.)

  16. The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines

    Energy Technology Data Exchange (ETDEWEB)

    Eeghen, Agnies M. van [Massachusetts General Hospital, Department of Neurology, Carol and James Herscot Center for Tuberous Sclerosis Complex, Boston, MA (United States); Erasmus Medical Centre, ENCORE, Expertise Centre for Neurodevelopmental Disorders, Department of Neuroscience, Rotterdam (Netherlands); Teran, Laura Ortiz; Johnson, Jason; Caruso, Paul [Massachusetts General Hospital, Department of Radiology, Boston, MA (United States); Pulsifer, Margaret B. [Massachusetts General Hospital, Department of Psychiatry, Psychological Assessment Center, Boston, MA (United States); Thiele, Elizabeth A. [Massachusetts General Hospital, Department of Neurology, Carol and James Herscot Center for Tuberous Sclerosis Complex, Boston, MA (United States)

    2013-08-15

    The contribution of radial migration lines (RMLs) to the neuroanatomical and neurocognitive phenotype of tuberous sclerosis complex (TSC) is unclear. The aim of this study was to perform a comprehensive evaluation of the neuroradiological phenotype of TSC, distinguishing RMLs from normal-appearing white matter (NAWM) using diffusion tensor imaging (DTI) and volumetric fluid-attenuated inversion recovery imaging. Magnetic resonance images of 30 patients with TSC were evaluated. The frequencies of RMLs, tubers, and subependymal nodules (SENs) were determined for every hemispheric lobe. Cerebellar lesions and subependymal giant cell tumors were counted. DTI metrics were obtained from the NAWM of every hemispheric lobe and from the largest RML and tuber. Analyses of variance and correlations were performed to investigate the associations between neuroanatomical characteristics and relationships between RML frequency and neurocognitive outcomes. NAWM DTI metrics were compared with measurements of 16 control patients. A mean of 47 RMLs, 27 tubers, and 10 SENs were found per patient, and the frequencies of these lesions were strongly correlated (p < 0.001). RML fractional anisotropy and mean diffusivity were strongly inversely correlated (p = 0.003). NAWM DTI metrics were similar to the controls (p = 0.26). RML frequency was strongly associated with age of seizure onset (p = 0.003), intelligence outcomes (p = 0.01), and level of autistic features (p = 0.007). A detailed neuroradiological phenotype is presented, showing that RMLs are the most frequent neuroanatomical lesion, are responsible for white matter DTI abnormalities, and are strongly associated with age of seizure onset, intelligence outcomes, and level of autistic features. (orig.)

  17. Comparative analysis of MR sequences to detect structural brain lesions in tuberous sclerosis

    International Nuclear Information System (INIS)

    Pinto Gama, Hugo Pereira; Campos Meirelles, Rogerio Goncalves de; Mendonca do Rego, Jose Iram; Rocha, Antonio Jose da; Silva, Carlos Jorge da; Braga, Flavio Tulio; Martins Maia, Antonio Carlos; Lederman, Henrique Manoel

    2006-01-01

    Tuberous sclerosis (TS) is a neurocutaneous genetically inherited disease with variable penetrance characterized by dysplasias and hamartomas affecting multiple organs. MR is the imaging method of choice to demonstrate structural brain lesions in TS. To compare MR sequences and determine which is most useful for the demonstration of each type of brain lesion in TS patients. We reviewed MR scans of 18 TS patients for the presence of cortical tubers, white matter lesions (radial bands), subependymal nodules, and subependymal giant cell astrocytoma (SGCA) on the following sequences: (1) T1-weighted spin-echo (T1 SE) images before and after gadolinium (Gd) injection; (2) nonenhanced T1 SE sequence with an additional magnetization transfer contrast medium pulse on resonance (T1 SE/MTC); and (3) fluid-attenuated inversion recovery (FLAIR) sequence. Cortical tubers were found in significantly (P<0.05) larger numbers and more conspicuously in FLAIR and T1 SE/MTC sequences. The T1 SE/MTC sequence was far superior to other methods in detecting white matter lesions (P<0.01). There was no significant difference between the T1 SE/MTC and T1 SE (before and after Gd injection) sequences in the detection of subependymal nodules; FLAIR sequence showed less sensitivity than the others in identifying the nodules. T1 SE sequences after Gd injection demonstrated better the limits of the SGCA. We demonstrated the importance of appropriate MRI sequences for diagnosis of the most frequent brain lesions in TS. Our study reinforces the fact that each sequence has a particular application according to the type of TS lesion. Gd injection might be useful in detecting SGCA; however, the parameters of size and location are also important for a presumptive diagnosis of these tumors. (orig.)

  18. Resting and Task-Modulated High-Frequency Brain Rhythms Measured by Scalp Encephalography in Infants with Tuberous Sclerosis Complex

    Science.gov (United States)

    Stamoulis, Catherine; Vogel-Farley, Vanessa; Degregorio, Geneva; Jeste, Shafali S.; Nelson, Charles A.

    2015-01-01

    The electrophysiological correlates of cognitive deficits in tuberous sclerosis complex (TSC) are not well understood, and modulations of neural dynamics by neuroanatomical abnormalities that characterize the disorder remain elusive. Neural oscillations (rhythms) are a fundamental aspect of brain function, and have dominant frequencies in a wide…

  19. Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor.

    Science.gov (United States)

    Moavero, Romina; Folgiero, Valentina; Carai, Andrea; Miele, Evelina; Ferretti, Elisabetta; Po, Agnese; Diomedi Camassei, Francesca; Lepri, Francesca Romana; Vigevano, Federico; Curatolo, Paolo; Valeriani, Massimiliano; Colafati, Giovanna S; Locatelli, Franco; Tornesello, Assunta; Mastronuzzi, Angela

    2016-04-01

    Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB). Considering the high risk of treatment-induced malignancies, a tailored therapy, omitting radiation, was given. Based on the evidence of mammalian target of rapamycin mTORC, mTOR Complex; RAS, Rat sarcoma; RAF, rapidly accelerated fibrosarcoma (mTOR) pathway activation in the tumor, targeted therapy was applied resulting in complete remission of disease. Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. We speculate that a different pathway resulting in mTOR activation is the basis of both TSC and MB in this child; H&E, haematoxilin and eosin; Gd, gadolinium. © 2015 Wiley Periodicals, Inc.

  20. Distinctive MRI features of the epileptogenic zone in children with tuberous sclerosis

    International Nuclear Information System (INIS)

    Jahodova, A.; Krsek, P.; Kyncl, M.; Jezdik, P.; Kudr, M.; Komarek, V.; Jayakar, P.; Miller, I.; Resnick, T.

    2014-01-01

    Objective: Localization of the epileptogenic zone (EZ) is challenging in children with tuberous sclerosis complex (TSC). We sought to ascertain whether brain MRI could identify the EZ in TSC patients independent of the clinical and diagnostic data. Methods: Presurgical MRI's of 34 children with TSC who underwent epilepsy surgery at Miami Children's Hospital were retrospectively reevaluated by experts blinded to all other data. Changes typical of TSC (tubers, calcifications, cystic changes) and abnormalities of the perituberal cortex typical of focal cortical dysplasia (FCD) (increased cortical thickness, abnormal gyration, transmantle change, gray/white matter junction blurring) were identified and their localization was compared with the resection site. Sensitivity, specificity and accuracy of individual MRI features to localize the EZ were determined and statistically compared between postoperatively seizure-free and non-seizure-free patients as well as clusters of features typical of FCD and TSC. Results: MRI alone correctly localized the resection cavity in all 19 postoperatively seizure-free patients and 12 of 15 non-seizure-free subjects. Sensitivity, specificity and accuracy of MRI features typical of FCD to localize EZ (90%, 96% and 96%, respectively) were superior to those typical of TCS (79%, 75% and 75%, p < 0.0001). Increased cortical thickness and abnormal gyral formation outside tubers occurred only in the resection site. Resection sites were better predicted by MRI in seizure-free than in non-seizure-free patients. Conclusion: Thorough MRI evaluation identifies the EZ in a significant proportion of TSC patients. Epileptogenic regions were mostly characterized by “FCD-like” changes outside cortical tubers. The findings may have important practical consequences for surgical planning in TSC

  1. Distinctive MRI features of the epileptogenic zone in children with tuberous sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Jahodova, A., E-mail: a.jagoda@email.cz [Department of Pediatric Neurology, Charles University, Second Medical School, Motol University Hospital, V Uvalu 84, Prague 5 150 06 (Czech Republic); Krsek, P., E-mail: pavel.krsek@post.cz [Department of Pediatric Neurology, Charles University, Second Medical School, Motol University Hospital, V Uvalu 84, Prague 5 150 06 (Czech Republic); Kyncl, M., E-mail: martinkyn@seznam.cz [Department of Radiology, Charles University, Second Medical School, Motol University Hospital, V Uvalu 84, Prague 5 150 06 (Czech Republic); Jezdik, P., E-mail: jezdip1@feld.cvut.cz [Department of Measurement, Faculty of Electric, Czech Technical University Prague, Technicka 2, CZ 166 27 Prague 6 (Czech Republic); Kudr, M., E-mail: mat.kudr@gmail.com [Department of Pediatric Neurology, Charles University, Second Medical School, Motol University Hospital, V Uvalu 84, Prague 5 150 06 (Czech Republic); Komarek, V., E-mail: vladimir.komarek@fnmotol.cz [Department of Pediatric Neurology, Charles University, Second Medical School, Motol University Hospital, V Uvalu 84, Prague 5 150 06 (Czech Republic); Jayakar, P., E-mail: Prasanna.Jayakar@mch.com [Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children' s Hospital, 3200 S.W. 60th Court, Miami, FL (United States); Miller, I., E-mail: ian.miller@mchdocs.com [Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children' s Hospital, 3200 S.W. 60th Court, Miami, FL (United States); Resnick, T., E-mail: trevor.resnick@mch.com [Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children' s Hospital, 3200 S.W. 60th Court, Miami, FL (United States); Department of Neurology, University of Miami Miller School of Medicine, Miami, FL (United States); and others

    2014-04-15

    Objective: Localization of the epileptogenic zone (EZ) is challenging in children with tuberous sclerosis complex (TSC). We sought to ascertain whether brain MRI could identify the EZ in TSC patients independent of the clinical and diagnostic data. Methods: Presurgical MRI's of 34 children with TSC who underwent epilepsy surgery at Miami Children's Hospital were retrospectively reevaluated by experts blinded to all other data. Changes typical of TSC (tubers, calcifications, cystic changes) and abnormalities of the perituberal cortex typical of focal cortical dysplasia (FCD) (increased cortical thickness, abnormal gyration, transmantle change, gray/white matter junction blurring) were identified and their localization was compared with the resection site. Sensitivity, specificity and accuracy of individual MRI features to localize the EZ were determined and statistically compared between postoperatively seizure-free and non-seizure-free patients as well as clusters of features typical of FCD and TSC. Results: MRI alone correctly localized the resection cavity in all 19 postoperatively seizure-free patients and 12 of 15 non-seizure-free subjects. Sensitivity, specificity and accuracy of MRI features typical of FCD to localize EZ (90%, 96% and 96%, respectively) were superior to those typical of TCS (79%, 75% and 75%, p < 0.0001). Increased cortical thickness and abnormal gyral formation outside tubers occurred only in the resection site. Resection sites were better predicted by MRI in seizure-free than in non-seizure-free patients. Conclusion: Thorough MRI evaluation identifies the EZ in a significant proportion of TSC patients. Epileptogenic regions were mostly characterized by “FCD-like” changes outside cortical tubers. The findings may have important practical consequences for surgical planning in TSC.

  2. mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    Veronica Costa

    2016-04-01

    Full Text Available Hyperfunction of the mTORC1 pathway has been associated with idiopathic and syndromic forms of autism spectrum disorder (ASD, including tuberous sclerosis, caused by loss of either TSC1 or TSC2. It remains largely unknown how developmental processes and biochemical signaling affected by mTORC1 dysregulation contribute to human neuronal dysfunction. Here, we have characterized multiple stages of neurogenesis and synapse formation in human neurons derived from TSC2-deleted pluripotent stem cells. Homozygous TSC2 deletion causes severe developmental abnormalities that recapitulate pathological hallmarks of cortical malformations in patients. Both TSC2+/− and TSC2−/− neurons display altered synaptic transmission paralleled by molecular changes in pathways associated with autism, suggesting the convergence of pathological mechanisms in ASD. Pharmacological inhibition of mTORC1 corrects developmental abnormalities and synaptic dysfunction during independent developmental stages. Our results uncouple stage-specific roles of mTORC1 in human neuronal development and contribute to a better understanding of the onset of neuronal pathophysiology in tuberous sclerosis.

  3. Pulmonary choriostoma in a case of tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    S Spalgais

    2015-01-01

    Full Text Available A 52 years old lady was diagnosed to have Tuberous Sclerosis Complex (TSC on the basis of 2 major and one minor criterion. She had family history of similar complaints in her sister and two sons. There was involvement of kidney in the form of angiomyolipoma, skin in the form of facial angiofibroma and teeth with a dental pit. She had an unusual lung involvement in the form of multiple small choristomas. Choristoma was diagnosed on transbronchial lung biopsy and was present in the form of disorganised striated muscles. The reported pulmonary manifestations of TCS i.e. lymphangioleiomyomatosis (LAM and multifocal micronodular pneumocyte hyperplasia (MMPH are types of hamartomas. Hamartomas and choristomas are both types of disorganized tissue. ′Choristoma′of lung in TSC however is not reported. Clinopathological correlation of pulmonary hamartoma and choristoma, and treatment in TSC has been discussed.

  4. Mental development of tuberous sclerosis with regard to epileptic seizures and CT findings

    International Nuclear Information System (INIS)

    Katafuchi, Yukihiko; Ishihara, Osamu; Matsuishi, Toyojiro; Shiotsuki, Yuko; Yamaguchi, Yoichiro; Imuta, Fusae

    1985-01-01

    The relation of mental development to epileptic seizures and CT findings was examined in 17 patients with tuberous sclerosis. Epileptic seizures occurred in 16 of the 17 patients. The earlier it occurred, the higher the incidence of mental retardation was. There was no constant correlation between mental development and the type of epileptic seizures or the attainment of inhibition of seizures. In two patients in whom calcification spreading to the cerebral cortex and subcortical region was detected on CT, in addition to calcified tubercles around the cerebral ventricle, an intelligence quotient was significantly lower than in the other patients. (Namekawa, K.)

  5. Hepatic manifestations of tuberous sclerosis studied by US and CT

    International Nuclear Information System (INIS)

    Galant, J.; Marti-Bonmati, L.; Ripolles, T.; Martinez-Rodrigo, J.; Ferrer, M.D.

    1995-01-01

    Liver hamartomas in tuberous sclerosis (TS) have been uncommonly documented compared with hamartomatous lesions in other organs. We prospectively studied by US 21 patients that fulfilled the established criteria of TS, looking for hepatic and renal lesions. Nine patients (43%) showed multiple, rounded hyperechoic liver lesions. Of these patients, 8 were also studied with CT showing several round low-density fatty lesions. Multiple hyperechoic renal lesions similar to those described in the liver were present in 17 patients (81%). Fat-containing tumors in the liver in TS have been described as liver hamartomas. We believe, considering the high prevalence of liver hamartomas in patients with TS and the scarcity of fat-containing lesions in the general population, that their presence should be considered as a criterion of TS, even in the absence of histological confirmation. (orig.)

  6. Long-term Follow-up Assessing Renal Angiomyolipoma Treatment Patterns, Morbidity, and Mortality : An Observational Study in Tuberous Sclerosis Complex Patients in the Netherlands

    NARCIS (Netherlands)

    Eijkemans, Marinus J C; van der Wal, Willem; Reijnders, Leida J; Roes, Kit C B; van Waalwijk van Doorn-Khosrovani, Sahar Barjesteh; Pelletier, Corey; Magestro, Matthew; Zonnenberg, Bernard

    2015-01-01

    BACKGROUND: Long-term data from patients with tuberous sclerosis complex (TSC)-associated renal angiomyolipoma (angiomyolipoma) are limited. STUDY DESIGN: Retrospective observational study. SETTING & PARTICIPANTS: Adult patients with TSC treated at the University Medical Center Utrecht (the

  7. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options

    Directory of Open Access Journals (Sweden)

    Wang S

    2014-10-01

    Full Text Available Shelly Wang,1 Aria Fallah2,3 1Department of Neurosurgery, University of Toronto, Toronto, ON, Canada; 2Department of Neurosurgery, Miami Children’s Hospital, Miami, FL, USA; 3Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada Abstract: Seizures are clinically significant manifestations associated with 79%–90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and cognitive development and carry significant individual and societal consequences. Prompt identification and treatment of seizures is an important focus in the overall management of tuberous sclerosis complex patients. Medical management, either after seizure onset or prophylactically in infants with electroencephalographic abnormalities, is considered first-line therapy. Vigabatrin and adrenocorticotropic hormone have emerged over the past few decades as mainstay pharmacologic modalities. Furthermore, emerging research on mammalian target of rapamycin inhibitors demonstrated promise for the management of seizures and subependymal giant cell astrocytoma. For appropriate surgical candidates with an epileptogenic zone associated with one or more glioneuronal hamartomas, ideally in noneloquent cortex, resective surgery can be considered, which provides a cure in 56% of patients. For medically refractory patients who do not meet criteria for curative surgery, palliative surgical approaches focused on reducing seizure burden, in the form of corpus callosotomy and vagus nerve stimulation, are alternative management options. Lastly, the ketogenic diet, a reemerging therapy based on the anticonvulsant effects of ketone bodies, can be utilized independently or in conjunction with other treatment modalities for the management of difficult-to-treat seizures. Keywords: epilepsy, adrenocorticotropic hormone, vigabatrin, mammalian

  8. Tuberous schlerosis complex and astrocytoma: a case report, Hiroshima

    Energy Technology Data Exchange (ETDEWEB)

    Rudnick, P A; Hoshino, N; Kitaoka, T; Miura, M

    1961-02-10

    This case report concerned a young woman with cutaneous, osseous, and retinal changes of tuberous sclerosis, referred to ABCC for evaluation of blindness and increased intracranial pressure. A right lateral ventricle astrocytoma was successfully removed, but the patient's sight was not restored. The development of cerebral neoplasms in these patients is discussed. A careful search for resectable brain lesions should be made in all patients with tuberous sclerosis who have signs and symptoms of increased intracranial pressure. 14 references, 6 figures.

  9. Tuberous schlerosis complex and astrocytoma: a case report, Hiroshima

    Energy Technology Data Exchange (ETDEWEB)

    Rudnick, P.A.; Hoshino, N.; Kitaoka, T.; Miura, M.

    1961-02-10

    This case report concerned a young woman with cutaneous, osseous, and retinal changes of tuberous sclerosis, referred to ABCC for evaluation of blindness and increased intracranial pressure. A right lateral ventricle astrocytoma was successfully removed, but the patient's sight was not restored. The development of cerebral neoplasms in these patients is discussed. A careful search for resectable brain lesions should be made in all patients with tuberous sclerosis who have signs and symptoms of increased intracranial pressure. 14 references, 6 figures.

  10. Variable radiosensitivity in fibroblasts from patients with tuberous sclerosis

    International Nuclear Information System (INIS)

    Hayashi, A.; Yoshida, Y.; Tanaka, H.; Arima, M.; Ohno, K.

    1985-01-01

    It has been reported that some of the cultured cell strains derived from patients with tuberous sclerosis (TS) showed hypersensitivity to gamma-rays or a radiomimetic chemical. Thirteen fibroblast cell strains from 11 patients with TS were examined for their sensitivity to x-rays as determined from their colony-forming ability. All strains derived from normal-appearing skin of patients, either sporadic or familial cases, showed sensitivity within the normal control range. Five cell strains originating from tumorous skin of 3 patients did not show hypersensitivity. It was concluded that the sensitivity to x-rays of cultured cells of TS is essentially normal. However, the mean D0 or D10 values of the strains from tumorous skin tended to be lower compared to those for normal skin of patients. In addition, the hypersensitivity to x-rays was confirmed in the cell strains of TS which had been shown to be hypersensitive to gamma-rays. These results appear to indicate that at least some of the cells of TS are liable to change to exhibit a hypersensitive trait in unknown acquired conditions

  11. Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex; Case reports and review of literature

    Directory of Open Access Journals (Sweden)

    Amna Al-Futaisi

    2016-11-01

    Full Text Available Tuberous sclerosis complex (TSC is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis. We report three children who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between 2014 and 2015 with ASD and TSC. These cases demonstrate the spectrum of neuropsychiatric involvement in TSC and highlight the importance of screening children with TSC for ASD features in order to encourage the early enrolment of these children in educational and rehabilitation programmes.

  12. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome

    International Nuclear Information System (INIS)

    Back, Susan J.; Andronikou, Savvas; Kilborn, Tracy; Kaplan, Bernard S.; Darge, Kassa

    2015-01-01

    Genes for tuberous sclerosis complex (TSC) type 2 and autosomal-dominant polycystic kidney disease (ADPKD) type 1 are both encoded over a short segment of chromosome 16. When deletions involve both genes, an entity known as the TSC2/ADPKD1 contiguous gene syndrome, variable phenotypes of TSC and ADPKD are exhibited. This syndrome has not been reviewed in the radiology literature. Unlike renal cysts in TSC, cystic disease in TSC2/ADPKD1 contiguous gene syndrome results in hypertension and renal failure. A radiologist might demonstrate polycystic kidney disease before the patient develops other stigmata of TSC. Conversely, in patients with known TSC, enlarged and polycystic kidneys should signal the possibility of the TSC2/ADPKD1 contiguous gene syndrome and not simply TSC. Distinguishing these diagnoses has implications in prognosis, treatment and genetic counseling. To describe the clinical and imaging findings of tuberous sclerosis complex and polycystic kidney disease in seven pediatric patients. We retrospectively reviewed renal and brain imaging of children and young adults with genetically proven or high clinical suspicion for TSC2/ADPKD1 contiguous gene syndrome. We included seven pediatric patients from two referral institutions. Ages ranged from birth to 21 years over the course of imaging. The mean follow-up period was 9 years 8 months (4 years 6 months to 20 years 6 months). No child progressed to end-stage renal disease during this period. Three patients were initially imaged for stigmata of TSC, three for abdominal distension and one for elevated serum creatinine concentration. All patients developed enlarged, polycystic kidneys. The latest available imaging studies demonstrated that in 12 of the 14 kidneys 50% or more of the parenchyma was ultimately replaced by >15 cysts, resulting in significant cortical thinning. The largest cysts in each kidney ranged from 2.4 cm to 9.3 cm. Echogenic lesions were present in 13 of the 14 kidneys, in keeping with

  13. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Back, Susan J. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Andronikou, Savvas [University of the Witwatersrand, Radiology Department, Faculty of Health Sciences, Johannesburg (South Africa); Kilborn, Tracy [University of Cape Town, Red Cross War Memorial Children' s Hospital, Cape Town (South Africa); Kaplan, Bernard S. [The Children' s Hospital of Philadelphia, Division of Nephrology, Philadelphia, PA (United States); University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States); Darge, Kassa [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA (United States)

    2015-03-01

    Genes for tuberous sclerosis complex (TSC) type 2 and autosomal-dominant polycystic kidney disease (ADPKD) type 1 are both encoded over a short segment of chromosome 16. When deletions involve both genes, an entity known as the TSC2/ADPKD1 contiguous gene syndrome, variable phenotypes of TSC and ADPKD are exhibited. This syndrome has not been reviewed in the radiology literature. Unlike renal cysts in TSC, cystic disease in TSC2/ADPKD1 contiguous gene syndrome results in hypertension and renal failure. A radiologist might demonstrate polycystic kidney disease before the patient develops other stigmata of TSC. Conversely, in patients with known TSC, enlarged and polycystic kidneys should signal the possibility of the TSC2/ADPKD1 contiguous gene syndrome and not simply TSC. Distinguishing these diagnoses has implications in prognosis, treatment and genetic counseling. To describe the clinical and imaging findings of tuberous sclerosis complex and polycystic kidney disease in seven pediatric patients. We retrospectively reviewed renal and brain imaging of children and young adults with genetically proven or high clinical suspicion for TSC2/ADPKD1 contiguous gene syndrome. We included seven pediatric patients from two referral institutions. Ages ranged from birth to 21 years over the course of imaging. The mean follow-up period was 9 years 8 months (4 years 6 months to 20 years 6 months). No child progressed to end-stage renal disease during this period. Three patients were initially imaged for stigmata of TSC, three for abdominal distension and one for elevated serum creatinine concentration. All patients developed enlarged, polycystic kidneys. The latest available imaging studies demonstrated that in 12 of the 14 kidneys 50% or more of the parenchyma was ultimately replaced by >15 cysts, resulting in significant cortical thinning. The largest cysts in each kidney ranged from 2.4 cm to 9.3 cm. Echogenic lesions were present in 13 of the 14 kidneys, in keeping with

  14. Clinical Characteristics of Connective Tissue Nevi in Tuberous Sclerosis Complex With Special Emphasis on Shagreen Patches.

    Science.gov (United States)

    Bongiorno, Michelle A; Nathan, Neera; Oyerinde, Oyetewa; Wang, Ji-An; Lee, Chyi-Chia Richard; Brown, G Thomas; Moss, Joel; Darling, Thomas N

    2017-07-01

    Patients with tuberous sclerosis complex (TSC) frequently develop collagenous connective tissue nevi. The prototypical lesion is a large shagreen patch located on the lower back, but some patients only manifest small collagenomas or have lesions elsewhere on the body. The ability to recognize these variable presentations can be important for the diagnosis of TSC. To describe the clinical characteristics of connective tissue nevi on the trunk and extremities of patients with tuberous sclerosis complex. A retrospective analysis of patient medical records and skin photography was performed; 104 adult patients with TSC were enrolled in an observational cohort study that was enriched for those with pulmonary lymphangioleiomyomatosis, and was therefore composed mostly of women (99 women, 5 men). All patients included were examined at the National Institutes of Health (NIH) in Bethesda, Maryland, from 1998 to 2013. Connective tissue nevi were categorized per anatomic location and size. Lesions less than 1 cm in diameter were termed collagenomas. Shagreen patches were characterized as small (1 to connective tissue nevi in patients with TSC. Overall, 58 of 104 patients (median [range] age, 42 [19-70] years) with TSC (56%) had at least 1 connective tissue nevus on the trunk or thighs; of these, 28 of 58 patients (48%) had a solitary lesion, and 30 of 58 patients (52%) had 2 or more lesions. Overall, 120 lesions from 55 patients were classified by size; 46 lesions (38%) were collagenomas; 39 lesions (32%) were small shagreen patches; 21 lesions (18%), medium shagreen patches; and 14 lesions (12%), large shagreen patches. The distribution of lesions was 9% (n = 11), upper back; 29% (n = 35), middle back; 51% (n = 61), lower back; and 11% (n = 13), other locations. All 26 shagreen patches that were analyzed histopathologically had coarse collagen fibers and 24 of 26 stained with Miller elastic stain had decreased elastic fibers. On immunoblot analysis

  15. Altered inhibition in Tuberous Sclerosis and Type IIb cortical dysplasia

    Science.gov (United States)

    Talos, Delia M.; Sun, Hongyu; Kosaras, Bela; Joseph, Annelise; Folkerth, Rebecca D.; Poduri, Annapurna; Madsen, Joseph R.; Black, Peter M.; Jensen, Frances E.

    2012-01-01

    Objective The most common neurological symptom of tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) is early-life refractory epilepsy. As previous studies have shown enhanced excitatory glutamatergic neurotransmission in TSC and FCD brains, we hypothesized that neurons associated with these lesions may also express altered GABAA receptor (GABAAR)-mediated inhibition. Methods Expression of the GABAAR subunitsα1 and α4, the Na+-K+-2Cl− (NKCC1), and the K+−Cl− (KCC2) transporters in human TSC and FCD Type II specimens were analyzed by Western blot and double label immunocytochemistry. GABAAR responses in dysplastic neurons from a single case of TSC were measured by perforated-patch recording and compared to normal-appearing cortical neurons from a non-TSC epilepsy case. Results TSC and FCD Type IIb lesions demonstrated decreased expression of the GABAAR α1, increased NKCC1 and decreased KCC2 levels. In contrast, FCD Type IIa lesions showed decreased α4, and increased expression of both NKCC1 and KCC2 transporters. Patch clamp recordings from dysplastic neurons in acute slices from TSC tubers demonstrated excitatory GABAAR responses that were significantly attenuated by the NKCC1 inhibitor bumetanide, in contrast to hyperpolarizing GABAAR-mediated currents in normal neurons from non-TSC cortical slices. Interpretation Expression and function of GABAARs in TSC and FCD IIb suggests the relative benzodiazepine insensitivity and more excitatory action of GABA compared to FCD IIa. These factors may contribute to resistance of seizure activity to anticonvulsants that increase GABAergic function, and may justify add-on trials of the NKCC1 inhibitor bumetanide for the treatment of TSC and FCD Type IIb related epilepsy. PMID:22447678

  16. Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex.

    Directory of Open Access Journals (Sweden)

    Yanan Guo

    Full Text Available Tuberous Sclerosis Complex (TSC is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosis. It is due to inactivating mutations in TSC1 or TSC2. We sought to generate a mouse model of one or more of these tumor types by targeting deletion of the Tsc1 gene to fibroblasts using the Fsp-Cre allele. Mutant, Tsc1ccFsp-Cre+ mice survived a median of nearly a year, and developed tumors in multiple sites but did not develop angiomyolipoma or lymphangioleiomyomatosis. They did develop a prominent skin phenotype with marked thickening of the dermis with accumulation of mast cells, that was minimally responsive to systemic rapamycin therapy, and was quite different from the pathology seen in human TSC skin lesions. Recombination and loss of Tsc1 was demonstrated in skin fibroblasts in vivo and in cultured skin fibroblasts. Loss of Tsc1 in fibroblasts in mice does not lead to a model of angiomyolipoma or lymphangioleiomyomatosis.

  17. Animal Models of Lymphangioleiomyomatosis (LAM) and Tuberous Sclerosis Complex (TSC)

    Science.gov (United States)

    2010-01-01

    Abstract Animal models of lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC) are highly desired to enable detailed investigation of the pathogenesis of these diseases. Multiple rats and mice have been generated in which a mutation similar to that occurring in TSC patients is present in an allele of Tsc1 or Tsc2. Unfortunately, these mice do not develop pathologic lesions that match those seen in LAM or TSC. However, these Tsc rodent models have been useful in confirming the two-hit model of tumor development in TSC, and in providing systems in which therapeutic trials (e.g., rapamycin) can be performed. In addition, conditional alleles of both Tsc1 and Tsc2 have provided the opportunity to target loss of these genes to specific tissues and organs, to probe the in vivo function of these genes, and attempt to generate better models. Efforts to generate an authentic LAM model are impeded by a lack of understanding of the cell of origin of this process. However, ongoing studies provide hope that such a model will be generated in the coming years. PMID:20235887

  18. Magnetic resonance imaging in relation to EEG epileptic foci in tuberous sclerosis

    International Nuclear Information System (INIS)

    Tamaki, Kyoko; Okuno, Takehiko; Ito, Masatoshi; Asato, Reinin; Konishi, Junji; Mikawa, Haruki

    1990-01-01

    In 20 patients with tuberous sclerosis (TS), who were sequentially treated for epilepsy at our clinic, the high signal lesions in the cerebral cortex and subcortex detected on T2 weighted magnetic resonance imaging (MRI) were compared with the interictal EEG findings. In four cases who showed a unilateral distribution of the MRI lesions, there was a good correlation between the laterality of the affected lobes and the localization of the EEG epileptic foci. Thirteen cases with more than four affected lobes in both hemispheres also showed bilateral epileptic foci on EEG. The MRI lesions in the occipital lobes showed the best correlation with the EEG epileptic foci, while the worst correlation was seen in the frontal lobes. In addition, the cases with four or more affected lobes without laterality on MRI are more likely to show bilateral synchronization on EEG. The prognosis of epilepsy in these cases was found to be rather poor. (author)

  19. Fibroma desmoplásico de mandíbula asociado a esclerosis tuberosa: Revisión de la literatura y presentación de un caso Desmoplastic fibroma of the jaw associated with tuberous sclerosis: Literature review and case report

    Directory of Open Access Journals (Sweden)

    M. Acosta Feria

    2008-04-01

    Full Text Available La esclerosis tuberosa es una anomalía congénita del desarrollo embrionario que se transmite de forma autosómica dominante caracterizada por la presencia por trastornos neurológicos, cutáneos o dermatológicos, y retraso mental. Se pueden afectar otros órganos y sistemas, y dar manifestaciones orofaciales. La lesión a nivel del esmalte dental constituye la lesión intraoral más frecuente. Rara vez se pueden encontrar lesiones óseas en los maxilares. El fibroma desmoplásico es un infrecuente tumor fibroso intraóseo localmente agresivo de lento crecimiento, que se asocia muy rara vez a la esclerosis tuberosa. Presentamos el caso clínico de un paciente de 33 años afecto de esclerosis tuberosa con una lesión en la mandíbula diagnosticada como fibroma desmoplásico. Se discuten los métodos diagnósticos, presentación clínica y tratamiento.Tuberous sclerosis is a congenital anomaly of embryonic development with an autosomal dominant inheritance. It is characterized by the presence of neurologic and dermatologic disorders and mental retardation. It can affect other organs and systems and produce orofacial manifestations. Dental enamel defects are the most frequent intraoral lesion. Bone lesions rarely occur in the upper jaw. Desmoplastic fibroma is an infrequent, slow-growing, locally aggressive intraosseous fibrous tumor that rarely is associated with tuberous sclerosis. We report the clinical case of a 33-year-old man with tuberous sclerosis and a jaw lesion diagnosed as desmoplastic fibroma. The diagnostic methods, clinical presentation, and treatment are discussed.

  20. The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial.

    Science.gov (United States)

    Randell, Elizabeth; McNamara, Rachel; Davies, D Mark; Owen-Jones, Eleri; Kirby, Nigel; Angel, Lianna; Drew, Cheney; Cannings-John, Rebecca; Smalley, Michelle; Saxena, Anurag; McDermott, Emer; Stockwell, Laura; de Vries, Petrus J; Hood, Kerry; Sampson, Julian R

    2016-08-11

    Tuberous sclerosis complex (TSC) is a genetic disorder affecting about 1 in 6000 people and is characterised by the development of tumours in many organs, including the skin and kidneys, and by a range of neurological and neuropsychiatric manifestations. TSC-associated neuropsychiatric disorders (TAND) occur in the majority of those with TSC, and they have a significant impact on patients and their families, given the everyday impact of TAND on education, employment, family and social life. The potential benefits of better treatment for TAND therefore include reduction in health care demands and wider benefits for patients and their carers. We have planned a single-centre, two-arm, individually randomised, phase II, double-blind, placebo-controlled trial of everolimus versus placebo in the treatment of neurocognitive problems in patients with tuberous sclerosis. Everolimus is a licensed medicine in this patient group, but for a different target of effect. The present trial is a proof-of-principle study developed to provide effect size estimates which may be used to inform the design of subsequent trials. Forty-eight patients aged 16-60 years with tuberous sclerosis who have an IQ >60 and a significant deficit (at least -2 SD) in one or more primary outcome measures will be randomly allocated in a ratio of 2:1 to receive everolimus or placebo, respectively. Participants will be assessed for eligibility and then be started on study medication 4 weeks later. They will then be randomised and receive placebo or everolimus for 24 weeks. Neurocognitive and safety assessments will be carried out at baseline and weeks 4, 12, 24 and 36. This study is designed to determine the effect sizes of treatment with everolimus or placebo for 6 months on specific neurocognitive functions-recall memory (verbal and non-verbal) and executive function-in people affected by TSC who have significant deficits in these functions. These data will provide new evidence to determine whether

  1. Rare lung manifestation of multifocal micronodular pneumocyte hyperplasia in a teenage girl with tuberous sclerosis complex

    Energy Technology Data Exchange (ETDEWEB)

    Ha, Seung Mi; Yoon, Hye Kyung; Lee, Seung Koo [Kangwon National University Hospital, Chuncheon (Korea, Republic of)

    2016-08-15

    Multifocal micronodular pneumocyte hyperplasia (MMPH) is a relatively rare pulmonary disorder that can be associated with tuberous sclerosis complex (TSC). It has been rarely reported in children or adolescents. MMPH is a hamartomatous process of the lung with multiple small nodules, composed of type II pneumocytes. Plain radiography and chest CT in MMPH may demonstrate numerous small nodules measuring 1-10 mm in diameters, distributed randomly throughout both lungs. If MMPH is an initial presentation of TSC, and unless we are familiar with this lung manifestation of TSC, radiologic findings can mimic miliary tuberculosis or metastatic disease. We report a teenage girl with TSC and histologically confirmed MMPH which mimicked miliary tuberculosis at the initial presentation.

  2. Rare lung manifestation of multifocal micronodular pneumocyte hyperplasia in a teenage girl with tuberous sclerosis complex

    International Nuclear Information System (INIS)

    Ha, Seung Mi; Yoon, Hye Kyung; Lee, Seung Koo

    2016-01-01

    Multifocal micronodular pneumocyte hyperplasia (MMPH) is a relatively rare pulmonary disorder that can be associated with tuberous sclerosis complex (TSC). It has been rarely reported in children or adolescents. MMPH is a hamartomatous process of the lung with multiple small nodules, composed of type II pneumocytes. Plain radiography and chest CT in MMPH may demonstrate numerous small nodules measuring 1-10 mm in diameters, distributed randomly throughout both lungs. If MMPH is an initial presentation of TSC, and unless we are familiar with this lung manifestation of TSC, radiologic findings can mimic miliary tuberculosis or metastatic disease. We report a teenage girl with TSC and histologically confirmed MMPH which mimicked miliary tuberculosis at the initial presentation

  3. Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    Vineet Tyagi

    2016-10-01

    Full Text Available Tuberous sclerosis (TS is an autosomal dominant condition associated with mutations in the TSC1 and/or TSC2 genes. Clinical manifestations are multisystemic, and they often include lesions in the brain, skin, heart, kidneys, and bones. TSC2 gene mutations can be seen concomitantly with autosomal dominant polycystic kidney disease gene mutations. We present a case of a fetus with prenatal diagnosis of TS that had unique asymmetrical distribution of renal cystic disease. We describe the extensive work up with both fetal and neonatal magnetic resonance imaging with correlating images of the unilateral polycystic renal disease in addition to typical TS brain findings.

  4. A case of tuberous sclerosis with extended symptomatology in a 23-years old male

    International Nuclear Information System (INIS)

    Georgieva, R.; Balev, B.

    2005-01-01

    Tuberous sclerosis (TS) (also called Bourneville's disease) is an autosomal dominant disorder with variable expressivity and genetic heterogeneity (two loci are recognised: one on 9q34 and one on 16p13). It is a part of the so called phakomatoses - family diseases with defects in the development of the ectodermal structures - the CNS, skin, retina, globe. Only half of the patients present with the classical for the disease clinical triad: sebaceous adenoma of the face, epilepsy and mental retardation. It is a progressive disease of connected congenital anomalies and affects many systems (generalised hamartomatous disease) - the CNS, kidneys, skeleton, eyes, skin, lungs. Because of its characteristic clinical manifestation and radiological appearance, TS is not a diagnostic problem. The affection of other organs and systems, except brain and skeleton is rare and finding this combination in a patient excites interest

  5. Analysis of twenty pediatric cases of tuberous sclerosis complex: Are we doing enough?

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    Jyoti Nath

    2015-01-01

    Full Text Available Background: Tuberous sclerosis complex (TSC is a neuro-cutaneous disease characterized by hamartoma formation in various organs particularly the skin, brain, eye, kidney, heart and lungs. Patients usually have multisystem involvement and thus present to different medical specialties with varied complaints while the true nature of the disease and the hidden manifestations may remain unattended. A im: To assess the frequency and characteristics of various cutaneous and systemic manifestations in TSC and the total impact on different system in a cohort of pediatric patients. Methods: The study included 20 patients fulfilling the diagnostic criteria for TSC from dermatology, pediatrics, and neurology department. Detailed history, examination, and investigations such as chest X-ray, electrocardiography (ECG, ultrasonography (USG abdomen, echocardiography, fundoscopy, computed tomography (CT scan of brain and abdomen were done. Results: Dermatological manifestations included ash leaf macules, angiofibromas, shagreen patch, and fibrous plaque. Systemic findings observed were subependymal calcified nodules, subependymal giant cell astrocytoma, cortical tubers, renal cysts, angiomyolipomas, lung cyst, retinal hamartomas, mental deficits and epilepsy. Limitations: Wechsler′s Intelligence Scale for Children would have been more appropriate for assessing the intelligence. Dental check-up was not done in our group of patients. Conclusion: Our study highlights the wide variety of cutaneous and systemic manifestations of TSC. The study emphasizes the need for comprehensive multidisciplinary treatment and periodic follow-up which are necessary for appropriate management of this multisystem disorder. Counseling regarding education and rehabilitation of the patients and genetic counseling of parents are important.

  6. TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

    Science.gov (United States)

    Kingswood, John C; Bruzzi, Paolo; Curatolo, Paolo; de Vries, Petrus J; Fladrowski, Carla; Hertzberg, Christoph; Jansen, Anna C; Jozwiak, Sergiusz; Nabbout, Rima; Sauter, Matthias; Touraine, Renaud; O'Callaghan, Finbar; Zonnenberg, Bernard; Crippa, Stefania; Comis, Silvia; d'Augères, Guillaume Beaure; Belousova, Elena; Carter, Tom; Cottin, Vincent; Dahlin, Maria; Ferreira, José Carlos; Macaya, Alfons; Benedik, Mirjana Perkovic; Sander, Valentin; Youroukos, Sotirios; Castellana, Ramon; Ulker, Bulent; Feucht, Martha

    2014-11-26

    Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disease registry could be an effective tool to gain more insights into TSC and thus help in the development of improved management strategies. TuberOus SClerosis registry to increase disease Awareness (TOSCA) is a multicentre, international disease registry to assess manifestations, interventions, and outcomes in patients with TSC. Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals are eligible. Objectives include mapping the course of TSC manifestations and their effects on prognosis, identifying patients with rare symptoms and co-morbidities, recording interventions and their outcomes, contributing to creation of an evidence-base for disease assessment and therapy, informing further research on TSC, and evaluating the quality of life of patients with TSC. The registry includes a 'core' section and subsections or 'petals'. The 'core' section is designed to record general information on patients' background collected at baseline and updated annually. Subsections will be developed over time to record additional data related to specific disease manifestations and will be updated annually. The registry aimed to enrol approximately 2000 patients from about 250 sites in 31 countries. The initial enrolment period was of 24 months. A follow-up observation period of up to 5 years is planned. A pre-planned administrative analysis of 'core' data from the first 100 patients was performed to evaluate the feasibility of the registry. Results showed a high degree of accuracy of the data collection procedure. Annual interim analyses are scheduled. Results of first interim analysis will be presented subsequent to

  7. High gamma-aminobutyric acid level in cortical tubers in epileptic infants with tuberous sclerosis complex measured with the MEGA-editing J-difference method and a three-Tesla clinical MRI Instrument.

    Science.gov (United States)

    Taki, Masako Minato; Harada, Masafumi; Mori, Kenji; Kubo, Hitoshi; Nose, Ayumi; Matsuda, Tsuyoshi; Nishitani, Hiromu

    2009-10-01

    The purpose of this study was to estimate the gamma-aminobutyric acid (GABA) and glutamate plus glutamine (Glx) concentrations in the cortical tubers of patients with tuberous sclerosis complex (TSC) using the MEGA-editing J-difference method and a stimulated echo-acquisition mode with a short echo time, and to determine which abnormality was more dominant between GABA and Glx in patients with TSC with epilepsy. This study included six patients with TSC (mean age, 4.3 years) and seven control subjects (mean age, 4.8 years). Measurements were obtained with a three-Tesla apparatus and postprocessing was conducted with an LCModel. The GABA level in the cortical gray matter (cgGABA) was calculated as a result of segmentation in voxels and from the literature values for gray and white matter ratios for GABA. Increased GABA and myo-inositol (mI) concentrations and a decreased N-acetyl aspartate (NAA) concentration were observed in the cortical tubers. The cgGABA level, and cgGABA/NAA and cgGABA/Glx ratios were also higher in patients with TSC than in control subjects. No significant difference was found in Glx concentration between patients with TSC and control subjects. Although the number of patients with TSC in this study was small, the increase in GABA and no significant change in Glx were consistent with previous neurochemical studies and support the hypothesis that brain GABA plays a key role in the pathophysiology of epilepsy during the process of neuronal development.

  8. Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism

    OpenAIRE

    Belousova, Elena; Sukhorukov, Vladimir; Dorofeeva, Marina; Shagam, Lev; Vlodavetz, Dmitrii V.

    2017-01-01

    Introduction. There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the disturbances of the m-TOR pathway can also be detected in Rett syndrome (RS), Fragile X syndrome and Down syndrome. We describe the rare case of co-occurrence of TSC and RS. Case study. The female child was born at term by normal de...

  9. White matter cysts in patients with tuberous sclerosis; Quistes de sustancia blanca en pacientes con esclerosis tuberosa

    Energy Technology Data Exchange (ETDEWEB)

    Marti-Bonmati, L; Dosda, R [Hospital Universitario Dr. Peset. Servicio de Resonancia Magnetica ATQ-Quiron. Valencia (Spain); Menor, F [Hospital Infantil La Fe. Valencia (Spain); Arana, E [Hospital Casa de La Salud. Valencia (Spain); Poyatos, C [Hospital Universitario Dr. Peset. Valencia (Spain)

    1999-07-01

    The presence of cysts in the white matter of the central nervous system of patients with tuberous sclerosis (TS) is an uncommon finding that has been reported only recently in neuroimaging studies. This article assesses the prevalence of these lesions in a large series of patients studied by magnetic resonance imaging (MRI) and their relationship to other epidemiological and imaging findings. MRI studies were performed in 46 patients (23 males and 23 females) with a mean age of 12.7 years, and the results were examined retrospectively in the search for cortical tubers, subependymal nodules and white matter nodules, lines and cysts. Nine patients (19.6%) presented cysts in white matter. Seven had only one cyst and the remaining two patients each had two. Multiple regression analysis relating the presence of the cysts with other neuroimaging findings in these patients revealed a statistically significant relationship only with white matter nodules (odds ratio: 7.5; p=0.006). White matter cysts are small, supratentorial lesions of deep location. There is a statistically relationship between the presence of these cysts and that of nodular lesions in the white matter. This finding supports the theory that the cyst originate from white matter nodules. (Author) 17 refs.

  10. Rabdomioma cardiaco como manifestación de esclerosis tuberosa: Presentación de dos casos y revisión de la literatura Cardiac rhabdomyoma as manifestation of tuberous sclerosis: Presentation of two cases and literature review

    Directory of Open Access Journals (Sweden)

    Rafael Lince

    2009-10-01

    Full Text Available Los rabdomiomas cardiacos son tumores benignos dependientes de las fibras musculares miocárdicas, los cuales usualmente son múltiples, pero tienden a disminuir tanto en número como en tamaño con el crecimiento, con una regresión espontánea en 90% de los casos. Hacen parte de los tumores cardiacos primarios, los cuales son poco frecuentes, con una incidencia que varía entre 0,0017% y 0,28%. El más frecuente de los tumores cardiacos primarios es el rabdomioma. Se describe asociación con esclerosis tuberosa hasta en 72% de los casos, razón por la cual ésta debe buscarse ante el hallazgo de rabdomioma cardiaco.Cardiac rhabdomyomas are benign tumors derived from cardiac muscle fibers. They are usually multiple, but tend to decrease both in number and size with growth, with spontaneous regression in 90% of cases. These lesions are part of the primary cardiac tumors, which are uncommon, and have a variable incidence between 0.0017 and 0.28%. The most common primary cardiac tumor is the rhabdomyoma. An association between rhabdomyoma and tuberous sclerosis has been described in up to 72% of cases. For this reason, a patient with cardiac rhabdomyoma should be investigated for tuberous sclerosis.

  11. Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report

    Directory of Open Access Journals (Sweden)

    Andika Afriansyah

    2018-04-01

    Full Text Available Tuberous sclerosis complex (TSC has several renal manifestations including angiomyolipomas (AML and renal epithelial neoplasms. A bilateral giant renal AML is extremely rare. We report a case of giant bilateral AML and discuss the diagnosis and treatment of it. The 22-year-old man was admitted due to bilateral flank pain, gross hematuria, and abdominal fullness. He had history of epilepsy, mental retardation, and delayed development during childhood. He had angiofibroma on his face since 10 years ago. Abdominal CT and MRI revealed large lobulated heterogeneous mass with fatty content. Based on those findings, we diagnosed the patient with bilateral giant renal AML. We gave conservative management for the patient and planned to total nephrectomy on the left kidney if the continued bleeding occurred. AML associated with TSC occur more frequently as multiple lesions and grows to larger size than idiopathic AML. Bilateral giant AML, which is very rare, could be treated with conservative management if no significant hemorrhage occurred.

  12. The diagnostic imaging and interventional therapy of hepatic angiomyolipoma associated with tuberous sclerosis

    International Nuclear Information System (INIS)

    You Jian; Xu Wei; Zhu Jiehui

    2001-01-01

    Objective: To evaluate imaging diagnosis, differential diagnosis, surgery and interventional therapy of hepatic angiomyolipoma associated with tuberous sclerosis. Methods: Clinical features, imaging appearances and interventional therapy for 2 cases of HAML in TS were retrospectively analyzed. Results: The features of HAML in TS are as following: (1) Two cases were female with no history of hepatitis and hepatocirrhosis, liver function test and alpha fetoprotein were normal: (2) the tumor was shown as a multiple hyper-echoic mass with sharp margin on ultrasonography; well defined, fat density and intensity mass on computerized tomography (CT); hypervascular mass with early drainage of hepatic vein and tumor staining on angiography. (3) One case underwent interventional therapy. After 42 month follow up, the tumor was found to be diminished in size. Another case was under monitored with only the enucleating of left renal mass. The hepatic tumor showed no change after 10 months. Conclusions: The imaging appearances of HAML in TS are relatively characteristic. Super selective arterial embolization is an effective treatment for HAML in TS

  13. Selective Activation of mTORC1 Signaling Recapitulates Microcephaly, Tuberous Sclerosis, and Neurodegenerative Diseases

    Directory of Open Access Journals (Sweden)

    Hidetoshi Kassai

    2014-06-01

    Full Text Available Mammalian target of rapamycin (mTOR has been implicated in human neurological diseases such as tuberous sclerosis complex (TSC, neurodegeneration, and autism. However, little is known about when and how mTOR is involved in the pathogenesis of these diseases, due to a lack of animal models that directly increase mTOR activity. Here, we generated transgenic mice expressing a gain-of-function mutant of mTOR in the forebrain in a temporally controlled manner. Selective activation of mTORC1 in embryonic stages induced cortical atrophy caused by prominent apoptosis of neuronal progenitors, associated with upregulation of HIF-1α. In striking contrast, activation of the mTORC1 pathway in adulthood resulted in cortical hypertrophy with fatal epileptic seizures, recapitulating human TSC. Activated mTORC1 in the adult cortex also promoted rapid accumulation of cytoplasmic inclusions and activation of microglial cells, indicative of progressive neurodegeneration. Our findings demonstrate that mTORC1 plays different roles in developmental and adult stages and contributes to human neurological diseases.

  14. Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).

    Science.gov (United States)

    Pollack, Sarah F; Geffrey, Alexandra L; Thiele, Elizabeth A; Shah, Uzma

    2015-09-01

    Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by a congenital malformation of the lymphatic vessels of the small intestine causing insufficient drainage and leakage of lymph fluid. Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas in multiple organ systems. While the lymphatic system has been implicated in TSC through lymphangioleiomyomatosis (LAM) and lymphedema, this paper reports the first case of PIL in TSC, a female patient with a TSC2 mutation. She developed persistent and significant abdominal distension with chronic diarrhea during her first year of life. Due to lack of treatment options and the involvement of the mTOR pathway in TSC, a trial of an mTOR inhibitor, rapamycin, was initiated. This treatment was highly effective, with improvement in clinical symptoms of PIL as well as abnormal laboratory values including VEGF-C, which was elevated to over seven times the normal upper limit before treatment. This case suggests that PIL is a rare manifestation of TSC, warranting the use of mTOR inhibitors in future studies. © 2015 Wiley Periodicals, Inc.

  15. [Clinical analysis of 15 pediatric patients with tuberous sclerosis complex complicated by cardiac rhabdomyomas].

    Science.gov (United States)

    Huang, Guo-Qiang; Zhai, Qiong-Xiang; Yu, Jun-Hao; Wang, Chun; Zhuo, Mu-Qing; Wang, Lin-Gan

    2015-05-01

    To investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM). The clinical data of 15 children with TSC complicated by CRM were collected. The clinical features of the patients were analyzed, and TSC gene mutations were detected. Eleven cases (73%) developed multiple CRM. The majority of the tumors were located in the left and right ventricles. Most tumors presented as a round-like hyperechogenic mass with a clear margin on echocardiography. Arrhythmias occurred in 3 patients and 2 patients experienced heart failure. Gene mutation tests were performed in 2 patients, and pathogenic mutations were detected in both patients, which were TSC1 mutation and TSC2 mutation, respectively. Three patients were followed up for 6 to 38 months, and their CRM shrank or regressed spontaneously. TSC-associated CRM is generally multiple. Heart failure and arrhythmias may occur in some patients. Echocardiography is important for diagnosis of CRM. TSC-associated CRM has an inclination to spontaneous regression. TSC can be diagnosed at a molecular genetic level by TSC gene mutation detection.

  16. Faciale angiofibromer ved tuberøs sklerose behandlet med sirolimussalve

    DEFF Research Database (Denmark)

    Svendsen, Mathias Tiedemann; Bygum, Anette; Hansen, Lars Kjærsgaard

    2013-01-01

    We present a five-year-old boy with facial angiofibromas associated to tuberous sclerosis successfully treated with topical sirolimus 0.4% applied three times a week for six months. After six months we observed a nearly complete resolution of facial angiofibromas. The blood levels of sirolimus...

  17. Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study.

    Directory of Open Access Journals (Sweden)

    John J Bissler

    Full Text Available We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.Following favorable results from the double-blind core phase of EXIST-2 (NCT00790400, patients were allowed to receive open-label everolimus (extension phase. Patients initially randomly assigned to everolimus continued on the same dose; those who were receiving placebo crossed over to everolimus 10 mg/day. Dose modifications were based on tolerability. The primary end point was angiomyolipoma response rate, defined as a ≥50% reduction from baseline in the sum volume of target renal angiomyolipomas in the absence of new target angiomyolipomas, kidney volume increase of >20% from nadir, and angiomyolipoma-related bleeding grade ≥2. The key secondary end point was safety.Of the 112 patients who received ≥1 dose of everolimus, 58% (95% CI, 48.3% to 67.3% achieved angiomyolipoma response. Almost all patients (97% experienced reduction in renal lesion volumes at some point during the study period. Median duration of everolimus exposure was 46.9 months. Sixteen (14.3% patients experienced angiomyolipoma progression at some point in the study. No angiomyolipoma-related bleeding or nephrectomies were reported. One patient on everolimus underwent embolization for worsening right flank pain. Subependymal giant cell astrocytoma lesion response was achieved in 48% of patients and skin lesion response in 68% of patients. The most common adverse events suspected to be treatment-related were stomatitis (42%, hypercholesterolemia (30.4%, acne (25.9%, aphthous stomatitis and nasopharyngitis (each 21.4%. Ten (8.9% patients withdrew because of an adverse event. Renal function remained stable, and the frequency of emergent adverse events generally decreased over time.Everolimus treatment remained safe and effective over approximately 4 years. The overall risk/benefit assessment supports the use

  18. Biofuel production from Jerusalem artichoke tuber inulins

    Science.gov (United States)

    Jerusalem artichoke has high productivity of tubers that are rich in inulins, a fructan polymer. These inulins can be easily broken down into fructose and glucose for conversion into ethanol by fermentation. This review focuses on tuber and inulin yields, effect of cultivar and environment on tuber ...

  19. Tuberous Sclerosis

    Science.gov (United States)

    ... Disorders (NORD) 55 Kenosia Avenue Danbury, CT 06810 orphan@rarediseases.org https://rarediseases.org/ Tel: 203-744- ... Overview Loan Repayment Programs Administrative Supplements Peer Review Process Review Committees Application Support Library Clinical Research Next ...

  20. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

    Science.gov (United States)

    Tyburczy, Magdalena E.; Wang, Ji-an; Li, Shaowei; Thangapazham, Rajesh; Chekaluk, Yvonne; Moss, Joel; Kwiatkowski, David J.; Darling, Thomas N.

    2014-01-01

    Tuberous sclerosis complex (TSC) is characterized by the formation of tumors in multiple organs and is caused by germline mutation in one of two tumor suppressor genes, TSC1 and TSC2. As for other tumor suppressor gene syndromes, the mechanism of somatic second-hit events in TSC tumors is unknown. We grew fibroblast-like cells from 29 TSC skin tumors from 22 TSC subjects and identified germline and second-hit mutations in TSC1/TSC2 using next-generation sequencing. Eighteen of 22 (82%) subjects had a mutation identified, and 8 of the 18 (44%) subjects were mosaic with mutant allele frequencies of 0 to 19% in normal tissue DNA. Multiple tumors were available from four patients, and in each case, second-hit mutations in TSC2 were distinct indicating they arose independently. Most remarkably, 7 (50%) of the 14 somatic point mutations were CC>TT ultraviolet ‘signature’ mutations, never seen as a TSC germline mutation. These occurred exclusively in facial angiofibroma tumors from sun-exposed sites. These results implicate UV-induced DNA damage as a cause of second-hit mutations and development of TSC facial angiofibromas and suggest that measures to limit UV exposure in TSC children and adults should reduce the frequency and severity of these lesions. PMID:24271014

  1. Lysosomal regulation of cholesterol homeostasis in tuberous sclerosis complex is mediated via NPC1 and LDL-R.

    Science.gov (United States)

    Filippakis, Harilaos; Alesi, Nicola; Ogorek, Barbara; Nijmeh, Julie; Khabibullin, Damir; Gutierrez, Catherine; Valvezan, Alexander J; Cunningham, James; Priolo, Carmen; Henske, Elizabeth P

    2017-06-13

    Tuberous sclerosis complex (TSC) is a multisystem disease associated with hyperactive mTORC1. The impact of TSC1/2 deficiency on lysosome-mediated processes is not fully understood. We report here that inhibition of lysosomal function using chloroquine (CQ) upregulates cholesterol homeostasis genes in TSC2-deficient cells. This TSC2-dependent transcriptional signature is associated with increased accumulation and intracellular levels of both total cholesterol and cholesterol esters. Unexpectedly, engaging this CQ-induced cholesterol uptake pathway together with inhibition of de novo cholesterol synthesis allows survival of TSC2-deficient, but not TSC2-expressing cells. The underlying mechanism of TSC2-deficient cell survival is dependent on exogenous cholesterol uptake via LDL-R, and endosomal trafficking mediated by Vps34. Simultaneous inhibition of lysosomal and endosomal trafficking inhibits uptake of esterified cholesterol and cell growth in TSC2-deficient, but not TSC2-expressing cells, highlighting the TSC-dependent lysosome-mediated regulation of cholesterol homeostasis and pointing toward the translational potential of these pathways for the therapy of TSC.

  2. Genetic and Medical Considerations of Autism: A Literature Review.

    Science.gov (United States)

    Silver, Kathi O.

    This literature review, from 1990 to the present, discusses the characteristics of autism and the comorbidity of mental retardation and autism. Specific medical syndromes that complement the heterogeneity concept are described, including epilepsy, fragile X syndrome, Rett syndrome, tuberous sclerosis, and Asperger syndrome. The paper presents some…

  3. [Effects of nutritional status on the multiple sclerosis disease: systematic review].

    Science.gov (United States)

    Ródenas Esteve, Irene; Wanden-Berghe, Carmina; Sanz-Valero, Javier

    2018-01-19

    To review the available scientific literature about the effects of nutritional status on the multiple sclerosis disease. A systematic review of the scientific literature in the Medline (PubMed), Scopus, Cochrane Library and Web of Science databases through November 2016. Search equation: ("Multiple Sclerosis"[Mesh] OR "Multiple Sclerosis"[Title/Abstract] OR "Disseminated Sclerosis"[Title/Abstract] OR "Multiple Sclerosis Acute Fulminating"[Title/Abstract]) AND ("Nutritional Status"[Mesh] OR "Nutritional Status"[Title/Abstract] OR "Nutrition Status"[Title/Abstract]). The quality of the selected articles was discussed using the STROBE questionnaire. The search was completed through experts inquiry and additional review of the bibliographic references included in the selected papers. The concordance between authors (Kappa index) had to be higher than 80% for inclusion in this review. Of the 160 references recovered, after applying inclusion and exclusion criteria, 29 articles were selected for review. Concordance between evaluators was 100.00%. The most studies established vitamin D levels. Others focused their research on finding out which nutrient deficits might be related to the multiple sclerosis development. Vitamin D may influence multiple sclerosis improvement. Sunlight and physical activity would be important factors, with nutritional status, in the course of this disease. It is necessary to produce new specific works that will delve into the subject to find out more about the relationship between nutritional status and multiple sclerosis.

  4. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex.

    Science.gov (United States)

    Jeong, Anna; Wong, Michael

    2016-09-01

    Epilepsy is one of the most disabling symptoms of tuberous sclerosis complex (TSC) and is a leading cause of morbidity and mortality in affected individuals. The relationship between systemic disease manifestations and the presence of epilepsy has not been thoroughly investigated. This study utilizes a multicenter TSC Natural History Database including 1,816 individuals to test the hypothesis that systemic disease manifestations of TSC are associated with epilepsy. Univariate analysis was used to identify patient characteristics (e.g., age, gender, race, and TSC mutation status) associated with the presence of epilepsy. Individual logistic regression models were built to examine the association between epilepsy and each candidate systemic or neurologic disease variable, controlling for the patient characteristics found to be significant on univariate analysis. Finally, a multivariable logistic regression model was constructed, using the variables found to be significant on the individual analyses as well as the patient characteristics that were significant on univariate analysis. Nearly 88% of our cohort had a history of epilepsy. After adjusting for age, gender, and TSC mutation status, multiple systemic disease manifestations including cardiac rhabdomyomas (odds ratio [OR] 2.3, 95% confidence interval [CI] 1.3-3.9, p = 0.002), retinal hamartomas (OR 2.1, CI 1.0-4.3, p = 0.04), renal cysts (OR 2.1, CI 1.3-3.4, p = 0.002), renal angiomyolipomas (OR 3.0, CI 1.8-5.1, p epilepsy. In the multivariable logistic regression model, cardiac rhabdomyomas (OR 1.9, CI 1.0-3.5, p = 0.04) remained significantly associated with the presence of epilepsy. The identification of systemic disease manifestations such as cardiac rhabdomyomas that confer a higher risk of epilepsy development in TSC could contribute to disease prognostication and assist in the identification of individuals who may receive maximal benefit from potentially novel, targeted, preventative therapies. Wiley

  5. Clinical features of tuberous sclerosis complex in children with epilepsy

    Directory of Open Access Journals (Sweden)

    Dong LI

    2014-12-01

    Full Text Available Objective To explore the clinical features of tuberous sclerosis complex (TSC in children with epilepsy.  Methods The clinical data of 36 TSC children complicated with epilepsy were analyzed retrospectively.  Results All children had epilepsy as first symptom: 23 cases of seizures happened on age less than one year old (63.89%, 8 cases on age 1-3 years old (22.22%, and 5 cases on age more than 3 years old (13.89% . Main attack types were as follows: 12 cases with focal seizures (33.33% , 5 cases with generalized seizures (13.89% , 7 cases with spasms (19.44% and 12 cases (33.33% with mixed seizures. Mental retardation was found in 19 cases (67.86%. Among 30 cases who received brain MRI examination, all had subependymal nodules, 26 cases (86.67% were complicated with cortical and subcortical nodules, 2 cases (6.67% with subependymal giant cell astrocytoma (SEGA, one case (3.33% with pachygyria. EEG examination showed interictal epileptiform discharges in 34 cases (94.44% , including multifocal discharges in 12 patients (35.29% , generalized discharges in 8 patients (23.53% , focal discharges and hypsarrhythmia in 7 patients (20.59% respectively. Seizures were monitored in 8 patients, and the types included spasms in 4 cases, focal seizures in 3 cases, and myoclonic seizures in one case. Seventeen cases (47.22% took one single antiepileptic drug, 12 cases (33.33% took two drugs, and 7 cases (19.44% took three drugs, while one of them underwent surgical treatment. After 0.50-10 year follow-up, seizures free happened in 7 cases (19.44%, improved in 16 cases (44.44%, and invalid in 13 cases (36.11%.  Conclusions Epilepsy is the most common nervous system performance in children TSC, and most seizures begin to happen in infants. The main types of onset are partial seizures and spasms. Most of the patients get improved with antiepileptic drugs. doi: 10.3969/j.issn.1672-6731.2014.12.011

  6. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/RSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

    DEFF Research Database (Denmark)

    Rendtorff, Nanna D.; Bjerregaard, Bolette; Frödin, Morten

    2005-01-01

    Tuberous sclerosis complex (TSC) is a severe autosomal-dominant disorder characterized by the development of benign tumors (hamartomas) in many organs. It can lead to intellectual handicap, epilepsy, autism, and renal or heart failure. An inactivating mutation in either of two tumor....... When applied in this order, the three methods provide a new sensitive and time- and cost-efficient strategy for the molecular diagnosis of TSC. We analyzed 65 Danish patients who had been clinically diagnosed with TSC, and identified pathogenic mutations in 51 patients (78%). These including 36 small...

  7. Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex.

    Science.gov (United States)

    Overwater, I E; Verhaar, B J H; Lingsma, H F; Bindels-de Heus, G C B; van den Ouweland, A M W; Nellist, M; Ten Hoopen, L W; Elgersma, Y; Moll, H A; de Wit, M C Y

    2017-01-01

    Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this study was to confirm factors that have been reported to be independently correlated with cognitive development. 102 patients included in this study were treated at the ENCORE-TSC expertise center of the Erasmus Medical Center-Sophia Children's Hospital. Data from the first 24 months of life were used, including details on epilepsy, motor development and mutation status. Outcome was defined as cognitive development (intellectual equivalent, IE) as measured using tests appropriate to the patients age and cognitive abilities (median age at testing 8.2 years, IQR 4.7-12.0). Univariable and multivariable regression analyses were used. In a univariable analysis, predictors of lower IE were: the presence of infantile spasms (β = -18.3, p = 0.000), a larger number of antiepileptic drugs used (β = -6.3, p = 0.000), vigabatrin not used as first drug (β = -14.6, p = 0.020), corticosteroid treatment (β = -33.2, p = 0.005), and a later age at which the child could walk independently (β = -2.1, p = 0.000). An older age at seizure onset predicted higher IE (β = 1.7, p = 0.000). In a multivariable analysis, only age at seizure onset was significantly correlated to IE (β = 1.2, p = 0.005), contributing to 28% of the variation in IE. In our cohort, age at seizure onset was the only variable that independently predicted IE. Factors predicting cognitive development could aid parents and physicians in finding the appropriate support and schooling for these patients.

  8. Clinical management of tuberous sclerosis complex over the lifetime of a patient

    Directory of Open Access Journals (Sweden)

    Frost M

    2015-08-01

    Full Text Available Michael Frost,1 John Hulbert2 1Minnesota Epilepsy Group, PA, St Paul, MN, USA; 2Urologic Physicians, PA, Edina, MN, USA Abstract: Tuberous sclerosis complex (TSC is a genetic disorder characterized by nonmalignant tumors (hamartomas that can occur in various organ systems, including the brain, kidneys, lungs, skin, eyes, and heart. Clinical manifestations of TSC can occur at any age, thereby making the diagnosis difficult. No typical disease presentation is known, and the clinical presentation usually differs between pediatric and adult patients. Furthermore, variable penetrance of the genetic mutation causes a range of disease severity from very mild to severe, and affected individuals can go undetected for years because many of the clinical manifestations of TSC lack specificity. Once a diagnosis is made, TSC management strategies should be tailored to address the symptoms and risks most relevant to the age of the patient. Improved understanding of the genetic basis of TSC and of the central issue of mTOR overactivation has led to use of pharmacotherapies such as the mTOR inhibitors everolimus and sirolimus in the treatment of TSC disease. In Phase II and III studies, everolimus has demonstrated efficacy and safety in the treatment of both brain (subependymal giant cell astrocytoma and renal (angiomyolipoma manifestations associated with TSC. It is important to bear in mind that TSC is a lifelong condition, and for those diagnosed as children, a continuum of care will be needed as they transition from pediatric to adult health services. Clearly identifying the likely differences among diagnosis, monitoring, and management of pediatric and adult patients with TSC is an important step in enabling efficiencies to be maximized without compromising the care provided to patients. Keywords: mammalian target of rapamycin inhibitors, mTOR treatment, treatment strategies

  9. Self care programs and multiple sclerosis: physical therapeutics treatment - literature review.

    Science.gov (United States)

    Demaille-Wlodyka, S; Donze, C; Givron, P; Gallien, P

    2011-03-01

    To clarify the therapeutic education program impact with multiple sclerosis patients, literature review. Highlight contents and efficacy. A non-systematic review on Medline, PubMed and Cochrane library databases from 1966 to 2010 using the following keywords: "multiple sclerosis", "self-care", "self-management" and specific symptoms keywords. Clinical trials and randomized clinical trials, as well as literature reviews published in English, French and German will be analyzed. Counseling is a part of the non-pharmacological management of chronic illnesses such as multiple sclerosis. Symptoms' diversity and the different clinical forms limit standardized programs of self-care management, applicable to patients. In the literature review, counseling programs have often low metrology. A behavior change with patients and medical staff could exist. To empower the patient, to reduce symptoms' impact and to improve treatment access are the aims of educational therapy. Therapeutic education program for multiple sclerosis patients could progress with their standardization and assessment, for each sign. To promote the educational therapy of multiple sclerosis patients, a specific training for medical staff, as specific financing are necessary. 2011 Elsevier Masson SAS. All rights reserved.

  10. Characteristics and correlates of coping with multiple sclerosis: a systematic review.

    Science.gov (United States)

    Keramat Kar, Maryam; Whitehead, Lisa; Smith, Catherine M

    2017-10-10

    The purpose of this systematic review was to examine coping strategies that people with multiple sclerosis use, and to identify factors that influence their coping pattern. This systematic review followed the Joanna Briggs Institute guidelines for synthesizing descriptive quantitative research. The following databases were searched from the inception of databases until December 2016: Ovid (Medline, Embase, CINAHL, and PsycINFO), Science Direct, Web of Science, and Scopus. Manual search was also conducted from the reference lists of retrieved articles. Findings related to the patterns of coping with multiple sclerosis and factors influencing coping with multiple sclerosis were extracted and synthesized. The search of the database yielded 455 articles. After excluding duplicates (n = 341) and studies that did not meet the inclusion criteria (n = 27), 71 studies were included in the full-text review. Following the full-text, a further 21 studies were excluded. Quality appraisal of 50 studies was completed, and 38 studies were included in the review. Synthesis of findings indicated that people with multiple sclerosis use emotional and avoidance coping strategies more than other types of coping, particularly in the early stages of the disease. In comparison to the general population, people with multiple sclerosis were less likely to use active coping strategies and used more avoidance and emotional coping strategies. The pattern of coping with multiple sclerosis was associated with individual, clinical and psychological factors including gender, educational level, clinical course, mood and mental status, attitude, personality traits, and religious beliefs. The findings of this review suggest that considering individual or disease-related factors could help healthcare professionals in identifying those less likely to adapt to multiple sclerosis. This information could also be used to provide client-centered rehabilitation for people living with multiple

  11. Assisting a child with tuberous sclerosis complex (TSC): a qualitative deep analysis of parents' experience and caring needs.

    Science.gov (United States)

    Graffigna, Guendalina; Bosio, Caterina; Cecchini, Isabella

    2013-12-06

    This study was aimed to explore parents' experience of assisting children affected by tuberous sclerosis complex (TSC) with subependymal giant-cell astrocytoma (SEGA) manifestation, in order to understand their caring needs and expectation of support. The study was designed according to the qualitative method of interpretative description and implied two sequential phases of data collection. The first phase was based on in-depth interviews with 18 Italian caregivers of children living with TSC. The second phase of the research was based on an online forum with 30 caregivers of children living with TSC. 48 Italian caregivers, assisting patients with TSC with SEGA manifestation have been involved in the study. When a TSC diagnosis is made, the whole family is affected psychologically. TSC has a great impact on families' quality of life and on their ability to cope with the disease and support the child's ability to recover and reach an acceptable level of well-being. Caregivers report the experience of losing control and the feeling of loneliness and abandon from the healthcare system. Families of children affected by TSC need targeted psychosocial assistance in order to support patients and caregivers and facilitate their social integration.

  12. Long-term High Fat Ketogenic Diet Promotes Renal Tumor Growth in a Rat Model of Tuberous Sclerosis.

    Science.gov (United States)

    Liśkiewicz, Arkadiusz D; Kasprowska, Daniela; Wojakowska, Anna; Polański, Krzysztof; Lewin-Kowalik, Joanna; Kotulska, Katarzyna; Jędrzejowska-Szypułka, Halina

    2016-02-19

    Nutritional imbalance underlies many disease processes but can be very beneficial in certain cases; for instance, the antiepileptic action of a high fat and low carbohydrate ketogenic diet. Besides this therapeutic feature it is not clear how this abundant fat supply may affect homeostasis, leading to side effects. A ketogenic diet is used as anti-seizure therapy i.a. in tuberous sclerosis patients, but its impact on concomitant tumor growth is not known. To examine this we have evaluated the growth of renal lesions in Eker rats (Tsc2+/-) subjected to a ketogenic diet for 4, 6 and 8 months. In spite of existing opinions about the anticancer actions of a ketogenic diet, we have shown that this anti-seizure therapy, especially in its long term usage, leads to excessive tumor growth. Prolonged feeding of a ketogenic diet promotes the growth of renal tumors by recruiting ERK1/2 and mTOR which are associated with the accumulation of oleic acid and the overproduction of growth hormone. Simultaneously, we observed that Nrf2, p53 and 8-oxoguanine glycosylase α dependent antitumor mechanisms were launched by the ketogenic diet. However, the pro-cancerous mechanisms finally took the ascendency by boosting tumor growth.

  13. Assisting a child with tuberous sclerosis complex (TSC): a qualitative deep analysis of parents’ experience and caring needs

    Science.gov (United States)

    Graffigna, Guendalina; Bosio, Caterina; Cecchini, Isabella

    2013-01-01

    Objective This study was aimed to explore parents’ experience of assisting children affected by tuberous sclerosis complex (TSC) with subependymal giant-cell astrocytoma (SEGA) manifestation, in order to understand their caring needs and expectation of support. Setting and procedure The study was designed according to the qualitative method of interpretative description and implied two sequential phases of data collection. The first phase was based on in-depth interviews with 18 Italian caregivers of children living with TSC. The second phase of the research was based on an online forum with 30 caregivers of children living with TSC. Participants 48 Italian caregivers, assisting patients with TSC with SEGA manifestation have been involved in the study. Results When a TSC diagnosis is made, the whole family is affected psychologically. TSC has a great impact on families’ quality of life and on their ability to cope with the disease and support the child's ability to recover and reach an acceptable level of well-being. Caregivers report the experience of losing control and the feeling of loneliness and abandon from the healthcare system. Conclusion and practice implications Families of children affected by TSC need targeted psychosocial assistance in order to support patients and caregivers and facilitate their social integration. PMID:24319280

  14. Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex.

    Science.gov (United States)

    Bai, Da-Yong; Wang, Xu; Zhao, Jun-Yang; Li, Li; Gao, Jun; Wang, Ning-Li

    2016-05-20

    A sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex (TSC). The aim of the present study was to compare the color fundus photography, infrared imaging (IFG), and optical coherence tomography (OCT) in the detection rate of retinal hamartoma in patients with TSC. This study included 11 patients (22 eyes) with TSC, who underwent color fundus photography, IFG, and spectral-domain OCT to detect retinal hamartomas. TSC1 and TSC2RESULTS: The mean age of the 11 patients was 8.0 ± 2.1 years. The mean spherical equivalent was -0.55 ± 1.42 D by autorefraction with cycloplegia. In 11 patients (22 eyes), OCT, infrared fundus photography, and color fundus photography revealed 26, 18, and 9 hamartomas, respectively. The predominant hamartoma was type I (55.6%). All the hamartomas that detected by color fundus photography or IFG can be detected by OCT. Among the methods of color fundus photography, IFG, and OCT, the OCT has higher detection rate for retinal hamartoma in TSC patients; therefore, OCT might be promising for the clinical diagnosis of TSC.

  15. Neuraxial anesthesia in patients with multiple sclerosis - a systematic review

    Directory of Open Access Journals (Sweden)

    Helmar Bornemann-Cimenti

    Full Text Available Abstract Background and objectives: Current guidelines for neuraxial analgesia in patients with multiple sclerosis are ambiguous and offer the clinician only a limited basis for decision making. This systematic review examines the number of cases in which multiple sclerosis has been exacerbated after central neuraxial analgesia in order to rationally evaluate the safety of these procedures. Methods: A systematic literature search with the keywords "anesthesia or analgesia" and "epidural, peridural, caudal, spinal, subarachnoid or intrathecal" in combination with "multiple sclerosis" was performed in the databases PubMed and Embase, looking for clinical data on the effect of central neuraxial analgesia on the course of multiple sclerosis. Results and conclusions: Over a period of 65 years, our search resulted in 37 reports with a total of 231 patients. In 10 patients multiple sclerosis was worsened and nine multiple sclerosis or neuromyelitis optica was first diagnosed in a timely context with central neuraxial analgesia. None of the cases showed a clear relation between cause and effect. Current clinical evidence does not support the theory that central neuraxial analgesia negatively affects the course of multiple sclerosis.

  16. Tuberous Sclerosis Complex in 29 Children: Clinical and Genetic Analysis and Facial Angiofibroma Responses to Topical Sirolimus.

    Science.gov (United States)

    Wang, Senfen; Liu, Yuanxiang; Wei, Jinghai; Zhang, Jian; Wang, Zhaoyang; Xu, Zigang

    2017-09-01

    Tuberous sclerosis complex (TSC) is a genetic disorder and facial angiofibromas are disfiguring facial lesions. The aim of this study was to analyze the clinical and genetic features of TSC and to assess the treatment of facial angiofibromas using topical sirolimus in Chinese children. Information was collected on 29 patients with TSC. Genetic analyses were performed in 12 children and their parents. Children were treated with 0.1% sirolimus ointment for 36 weeks. Clinical efficacy and plasma sirolimus concentrations were evaluated at baseline and 12, 24, and 36 weeks. Twenty-seven (93%) of the 29 patients had hypomelanotic macules and 15 (52%) had shagreen patch; 11 of the 12 (92%) who underwent genetic analysis had gene mutations in the TSC1 or TSC2 gene. Twenty-four children completed 36 weeks of treatment with topical sirolimus; facial angiofibromas were clinically undetectable in four (17%). The mean decrease in the Facial Angiofibroma Severity Index (FASI) score at 36 weeks was 47.6 ± 30.4%. There was no significant difference in the FASI score between weeks 24 and 36 (F = 1.00, p = 0.33). There was no detectable systemic absorption of sirolimus. Hypomelanotic macules are often the first sign of TSC. Genetic testing has a high detection rate in patients with a clinical diagnosis of TSC. Topical sirolimus appears to be both effective and well-tolerated as a treatment of facial angiofibromas in children with TSC. The response typically plateaus after 12 to 24 weeks of treatment. © 2017 Wiley Periodicals, Inc.

  17. Virtual reality in multiple sclerosis - A systematic review.

    Science.gov (United States)

    Massetti, Thais; Trevizan, Isabela Lopes; Arab, Claudia; Favero, Francis Meire; Ribeiro-Papa, Denise Cardoso; de Mello Monteiro, Carlos Bandeira

    2016-07-01

    Multiple sclerosis (MS) is an inflammatory disease in which the insulating cover of nerve cells in the brain and spinal cord are damaged. The methods used for motor rehabilitation of patients with neurological problems require the performance of several rehabilitation exercises. Recently, studies related to the use of video game consoles have proliferated in the field of motor rehabilitation. Virtual reality (VR) has been proposed as a potentially useful tool for motoring assessment and rehabilitation. The purpose of this study was to investigate the results shown in previous studies on "Multiple Sclerosis" and "Virtual Reality". A bibliographic review was performed without time limitations. The research was carried out using PubMed and BVS databases. Considering keywords, we included articles that showed the terms "Multiple Sclerosis" and "Virtual Reality". The review was according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines The initial search yielded 41 articles. After the duplicates were removed, two authors independently evaluated the title and abstract of each of the articles with the study inclusion criteria. From these, 31 articles were excluded based on the title and abstract. Finally, 10 articles were isolated that met the inclusion criteria. VR represents a motivational and effective alternative to traditional motor rehabilitation for MS patients. The results showed that VR programs could be an effective method of patients with MS rehabilitation in multiple cognitive and / or motor deficits. Additional research is needed to support the rehabilitation protocols with VR and increase the effects of treatment. Copyright © 2016 Elsevier B.V. All rights reserved.

  18. Physicochemical Characteristics and Composition of Three Morphotypes of Cyperus esculentus Tubers and Tuber Oils

    Directory of Open Access Journals (Sweden)

    Souleymane Bado

    2015-01-01

    Full Text Available Tuber characteristics and nutrient composition of three morphotypes of Cyperus esculentus tubers and tuber oils were determined. The mean value for length and width of the tuber and one thousand dried tuber weights ranged from 0.98 to 1.31 cm, 0.90 to 1.19 cm, and 598 to 1044 g, respectively. Tubers displayed high level of starch (30.54–33.21 g 100 g−1, lipid (24.91–28.94 g 100 g−1, and sucrose (17.98–20.39 g 100 g−1. The yellow tubers had significantly higher content in lipid compared to black ones. Levels of ascorbic acid, tocopherol, and β-carotene of the three morphotypes differed significantly. Yellow ones (morphotypes 1 and 2 were the richest in tocopherol and the poorest in β-carotene. Saturated fatty acid content of morphotype 2 was significantly lower than that of morphotypes 1 and 3. Morphotype 3 had the significantly lowest PUFA content compared to morphotypes 1 and 2. Morphotype 1 was found to be richer in Ca, Cu, and Mn contents. Al, Mg, P, S, and Si were most abundant in morphotype 2. Morphotype 3 had the highest content of Cl, K, and Zn.

  19. Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis.

    Directory of Open Access Journals (Sweden)

    Aria Fallah

    Full Text Available OBJECTIVE: To perform a systematic review and individual participant data meta-analysis to identify preoperative factors associated with a good seizure outcome in children with Tuberous Sclerosis Complex undergoing resective epilepsy surgery. DATA SOURCES: Electronic databases (MEDLINE, EMBASE, CINAHL and Web of Science, archives of major epilepsy and neurosurgery meetings, and bibliographies of relevant articles, with no language or date restrictions. STUDY SELECTION: We included case-control or cohort studies of consecutive participants undergoing resective epilepsy surgery that reported seizure outcomes. We performed title and abstract and full text screening independently and in duplicate. We resolved disagreements through discussion. DATA EXTRACTION: One author performed data extraction which was verified by a second author using predefined data fields including study quality assessment using a risk of bias instrument we developed. We recorded all preoperative factors that may plausibly predict seizure outcomes. DATA SYNTHESIS: To identify predictors of a good seizure outcome (i.e. Engel Class I or II we used logistic regression adjusting for length of follow-up for each preoperative variable. RESULTS: Of 9863 citations, 20 articles reporting on 181 participants were eligible. Good seizure outcomes were observed in 126 (69% participants (Engel Class I: 102(56%; Engel class II: 24(13%. In univariable analyses, absence of generalized seizure semiology (OR = 3.1, 95%CI = 1.2-8.2, p = 0.022, no or mild developmental delay (OR = 7.3, 95%CI = 2.1-24.7, p = 0.001, unifocal ictal scalp electroencephalographic (EEG abnormality (OR = 3.2, 95%CI = 1.4-7.6, p = 0.008 and EEG/Magnetic resonance imaging concordance (OR = 4.9, 95%CI = 1.8-13.5, p = 0.002 were associated with a good postoperative seizure outcome. CONCLUSIONS: Small retrospective cohort studies are inherently prone to bias, some of which are overcome using individual participant data. The

  20. The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.

    Science.gov (United States)

    Bissler, John J; Franz, David N; Frost, Michael D; Belousova, Elena; Bebin, E Martina; Sparagana, Steven; Berkowitz, Noah; Ridolfi, Antonia; Kingswood, J Christopher

    2018-01-01

    Patients with tuberous sclerosis complex (TSC) often have multiple TSC-associated hamartomas, particularly in the brain and kidney. This was a post hoc analysis of pediatric patients being treated for subependymal giant cell astrocytomas (SEGAs) during the phase 3, randomized, double-blind, placebo-controlled EXIST-1 trial. Patients were initially randomly assigned to receive everolimus 4.5 mg/m 2 /day (target blood trough 5-15 mg/dl) or placebo and could continue in an open-label extension phase. Angiomyolipoma response rates were analyzed in patients aged 20% increase in kidney volume from nadir, and angiomyolipoma-related bleeding ≥ grade 2. Tolerability was also assessed. Overall, this analysis included 33 patients. Renal angiomyolipoma response was achieved by 75.8% of patients (95% confidence interval, 57.7-88.9%), with sustained mean reductions in renal angiomyolipoma volume over nearly 4 years of treatment. In addition, most (≥80%) achieved clinically relevant reductions in angiomyolipoma volume (≥50%), beginning at week 24 and continuing for the remainder of the study. Everolimus was generally well tolerated in this subgroup, with most adverse events being grade 1 or 2 in severity. Although everolimus is currently not indicated for this use, this analysis from EXIST-1 demonstrates its long-term efficacy and safety for the treatment of renal angiomyolipoma in pediatric patients undergoing treatment for TSC-associated SEGA.

  1. Dioscorea alata tuber proteome analysis shows over thirty dioscorin isoforms and novel tuber proteins.

    Science.gov (United States)

    Sharma, Shruti; Gupta, Ravi; Deswal, Renu

    2017-05-01

    In Dioscorea, dioscorin (31 kDa) is the major storage protein constituting 85% of the total tuber proteins. An integrated proteomic and biochemical approach was used to understand the physiological role of dioscorin in the two contrasting growth stages (germinating and mature tuber). HPLC analysis showed 3 fold reduction in mannitol and 12.88 and 1.24 fold increase in sucrose and maltose in the germinating tuber. A 1.8 and 3 fold increase in sucrose phosphate synthase and mannitol dehydrogenase activity respectively was observed in the germinating tuber while a 2 fold higher invertase probably lowers the sucrose accumulation in the mature tuber. SDS-PAGE and 2-D maps of the mature and germinating tubers confirmed depletion (more than 50%) of dioscorin on germination. Dioscorin was purified using ion exchange and gel filtration chromatography with 43.32 fold purification and 38.16 yield. Out of a trail of 35 spots at 31 kDa only 12 spots (identified as dioscorin isoforms) were present in the 2D gel of the purified fraction. To search for other tuber proteins besides dioscorin, the unbound fractions of DEAE column were analysed by 2DGE. DREB 1A, caffeic acid 3-O-methyltransferase and Rab-1 small GTP binding protein were identified perhaps for the first time in the Dioscorea proteome. The interactome analysis revealed these to be involved in oxidative stress, carotenoid synthesis and vesicular transport. This is perhaps the first attempt to identify tuber proteome (although limited) and to understand the physiological significance of these proteins. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  2. Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin

    Directory of Open Access Journals (Sweden)

    Seok-Hyung Kim

    2011-03-01

    Tuberous sclerosis complex (TSC is an autosomal dominant disease caused by mutations in either the TSC1 (encodes hamartin or TSC2 (encodes tuberin genes. Patients with TSC have hamartomas in various organs throughout the whole body, most notably in the brain, skin, eye, heart, kidney and lung. To study the development of hamartomas, we generated a zebrafish model of TSC featuring a nonsense mutation (vu242 in the tsc2 gene. This tsc2vu242 allele encodes a truncated Tuberin protein lacking the GAP domain, which is required for inhibition of Rheb and of the TOR kinase within TORC1. We show that tsc2vu242 is a recessive larval-lethal mutation that causes increased cell size in the brain and liver. Greatly elevated TORC1 signaling is observed in tsc2vu242/vu242 homozygous zebrafish, and is moderately increased in tsc2vu242/+ heterozygotes. Forebrain neurons are poorly organized in tsc2vu242/vu242 homozygous mutants, which have extensive gray and white matter disorganization and ectopically positioned cells. Genetic mosaic analyses demonstrate that tsc2 limits TORC1 signaling in a cell-autonomous manner. However, in chimeric animals, tsc2vu242/vu242 mutant cells also mislocalize wild-type host cells in the forebrain in a non-cell-autonomous manner. These results demonstrate a highly conserved role of tsc2 in zebrafish and establish a new animal model for studies of TSC. The finding of a non-cell-autonomous function of mutant cells might help explain the formation of brain hamartomas and cortical malformations in human TSC.

  3. A novel mouse model of tuberous sclerosis complex (TSC): eye-specific Tsc1-ablation disrupts visual-pathway development.

    Science.gov (United States)

    Jones, Iwan; Hägglund, Anna-Carin; Törnqvist, Gunilla; Nord, Christoffer; Ahlgren, Ulf; Carlsson, Leif

    2015-12-01

    Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that is best characterised by neurodevelopmental deficits and the presence of benign tumours (called hamartomas) in affected organs. This multi-organ disorder results from inactivating point mutations in either the TSC1 or the TSC2 genes and consequent activation of the canonical mammalian target of rapamycin complex 1 signalling (mTORC1) pathway. Because lesions to the eye are central to TSC diagnosis, we report here the generation and characterisation of the first eye-specific TSC mouse model. We demonstrate that conditional ablation of Tsc1 in eye-committed progenitor cells leads to the accelerated differentiation and subsequent ectopic radial migration of retinal ganglion cells. This results in an increase in retinal ganglion cell apoptosis and consequent regionalised axonal loss within the optic nerve and topographical changes to the contra- and ipsilateral input within the dorsal lateral geniculate nucleus. Eyes from adult mice exhibit aberrant retinal architecture and display all the classic neuropathological hallmarks of TSC, including an increase in organ and cell size, ring heterotopias, hamartomas with retinal detachment, and lamination defects. Our results provide the first major insight into the molecular etiology of TSC within the developing eye and demonstrate a pivotal role for Tsc1 in regulating various aspects of visual-pathway development. Our novel mouse model therefore provides a valuable resource for future studies concerning the molecular mechanisms underlying TSC and also as a platform to evaluate new therapeutic approaches for the treatment of this multi-organ disorder. © 2015. Published by The Company of Biologists Ltd.

  4. The Use of Cannabis and Cannabinoids in Treating Symptoms of Multiple Sclerosis: a Systematic Review of Reviews.

    Science.gov (United States)

    Nielsen, Suzanne; Germanos, Rada; Weier, Megan; Pollard, John; Degenhardt, Louisa; Hall, Wayne; Buckley, Nicholas; Farrell, Michael

    2018-02-13

    Pharmaceutical cannabinoids such as nabiximols, nabilone and dronabinol, and plant-based cannabinoids have been investigated for their therapeutic potential in treating multiple sclerosis (MS) symptoms. This review of reviews aimed to synthesise findings from high quality systematic reviews that examined the safety and effectiveness of cannabinoids in multiple sclerosis. We examined the outcomes of disability and disability progression, pain, spasticity, bladder function, tremor/ataxia, quality of life and adverse effects. We identified 11 eligible systematic reviews providing data from 32 studies, including 10 moderate to high quality RCTs. Five reviews concluded that there was sufficient evidence that cannabinoids may be effective for symptoms of pain and/or spasticity in MS. Few reviews reported conclusions for other symptoms. Recent high quality reviews find cannabinoids may have modest effects in MS for pain or spasticity. Future research should include studies with non-cannabinoid comparators; this is an important gap in the evidence.

  5. Assuring Potato Tuber Quality during Storage: A Future Perspective

    Directory of Open Access Journals (Sweden)

    M. C. Alamar

    2017-11-01

    Full Text Available Potatoes represent an important staple food crop across the planet. Yet, to maintain tuber quality and extend availability, there is a necessity to store tubers for long periods often using industrial-scale facilities. In this context, preserving potato quality is pivotal for the seed, fresh and processing sectors. The industry has always innovated and invested in improved post-harvest storage. However, the pace of technological change has and will continue to increase. For instance, more stringent legislation and changing consumer attitudes have driven renewed interest in creating alternative or complementary post-harvest treatments to traditional chemically reliant sprout suppression and disease control. Herein, the current knowledge on biochemical factors governing dormancy, the use of chlorpropham (CIPC as well as existing and chemical alternatives, and the effects of pre- and post-harvest factors to assure potato tuber quality is reviewed. Additionally, the role of genomics as a future approach to potato quality improvement is discussed. Critically, and through a more industry targeted research, a better mechanistic understanding of how the pre-harvest environment influences tuber quality and the factors which govern dormancy transition should lead to a paradigm shift in how sustainable storage can be achieved.

  6. Infectious mononucleosis and multiple sclerosis - Updated review on associated risk.

    Science.gov (United States)

    Sheik-Ali, Sharaf

    2017-05-01

    There has been substantial evidence accumulating on the role of infectious mononucleosis (IM) and the subsequent risk of obtaining Multiple Sclerosis (MS). Up to date studies not previously explored were reviewed by the author to further clarify the association. Medline and Web of Science were searched with no time constraints for articles exploring an association between Multiple Sclerosis and Infectious Mononucleosis. 24 articles were found, totalling 1063 cases and 13,227 cohort/controls. 23/24 (96%) articles reported a significant association of Infectious Mononucleosis on the risk of subsequent multiple sclerosis. Overall, new literature on IM and risk of MS categorically supports the association. Future work should focus on other risk factors such as age and gender on IM and subsequent risk of MS. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved.

  7. Metabolic engineering of potato tuber carotenoids through tuber-specific silencing of lycopene epsilon cyclase

    Directory of Open Access Journals (Sweden)

    Papacchioli Velia

    2006-06-01

    Full Text Available Abstract Background Potato is a major staple food, and modification of its provitamin content is a possible means for alleviating nutritional deficiencies. beta-carotene is the main dietary precursor of vitamin A. Potato tubers contain low levels of carotenoids, composed mainly of the xanthophylls lutein, antheraxanthin, violaxanthin, and of xanthophyll esters. None of these carotenoids have provitamin A activity. Results We silenced the first dedicated step in the beta-epsilon- branch of carotenoid biosynthesis, lycopene epsilon cyclase (LCY-e, by introducing, via Agrobacterium-mediated transformation, an antisense fragment of this gene under the control of the patatin promoter. Real Time measurements confirmed the tuber-specific silencing of Lcy-e. Antisense tubers showed significant increases in beta-beta-carotenoid levels, with beta-carotene showing the maximum increase (up to 14-fold. Total carotenoids increased up to 2.5-fold. These changes were not accompanied by a decrease in lutein, suggesting that LCY-e is not rate-limiting for lutein accumulation. Tuber-specific changes in expression of several genes in the pathway were observed. Conclusion The data suggest that epsilon-cyclization of lycopene is a key regulatory step in potato tuber carotenogenesis. Upon tuber-specific silencing of the corresponding gene, beta-beta-carotenoid and total carotenoid levels are increased, and expression of several other genes in the pathway is modified.

  8. Treatment of Advanced Malignant Uterine Perivascular Epithelioid Cell Tumor with mTOR Inhibitors: Single-institution Experience and Review of the Literature.

    Science.gov (United States)

    Starbuck, Kristen D; Drake, Richard D; Budd, G Thomas; Rose, Peter G

    2016-11-01

    Uterine perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors. Many have malignant behavior, and no successful treatment strategy has been established. Identification of mutations in the tuberous sclerosis 1 (TSC1) and TSC2 genes producing constitutive activation of the mammalian target of rapamycin (mTOR) pathway presents an opportunity for targeted therapy. Patients with advanced malignant uterine PEComa treated with mTOR inhibitors were identified and records were retrospectively reviewed for treatment response based on radiographic assessment. Three patients with advanced uterine PEComas underwent debulking surgery followed by mTOR inhibitor therapy; two had a complete response to therapy and disease in one patient progressed. Given the absence of effective therapies for malignant uterine PEComas, targeting the mTOR pathway is a logical strategy to pursue given the known pathobiology involving the Tuberous Sclerosis complex. Treatment of malignant uterine PEComas with mTOR inhibitors was effective in two out of three patients after surgical resection, with durable response. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  9. Hamartomas of the tuber cinereum

    Energy Technology Data Exchange (ETDEWEB)

    Diebler, C; Ponsot, G

    1983-05-01

    The hamartoma of the tuber cinereum, a midline dysraphic syndrome, corresponds to a mass of normal neuronal tissue implanted in the area of the mamillary bodies. It has no evolutionary potential, but association to other cerebral malformations has been observed. On the basis of 18 personal cases and a review of the literature, the authors evaluate the actual diagnostic criteria and the incidence of different clinical signs such as precocious isosexual puberty, seizures, and mental impairment.

  10. Hamartomas of the tuber cinereum

    International Nuclear Information System (INIS)

    Diebler, C.; Ponsot, G.

    1983-01-01

    The hamartoma of the tuber cinereum, a midline dysraphic syndrome, corresponds to a mass of normal neuronal tissue implanted in the area of the mamillary bodies. It has no evolutionary potential, but association to other cerebral malformations has been observed. On the basis of 18 personal cases and a review of the literature, the authors evaluate the actual diagnostic criteria and the incidence of different clinical signs such as precocious isosexual puberty, seizures, and mental impairment. (orig.)

  11. In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1 and Costello syndrome.

    Directory of Open Access Journals (Sweden)

    Tiantian eWang

    2015-07-01

    Full Text Available Defects in the rat sarcoma viral oncogene homolog (Ras/extracellular-signal-regulated kinase (ERK and the phosphatidylinositol 3-kinase (PI3K-mammalian target of rapamycin (mTOR signaling pathways are responsible for several neurodevelopmental disorders. These disorders are an important cause for intellectual disability; additional manifestations include autism spectrum disorder, seizures and brain malformations. Changes in synaptic function are thought to underlie the neurological conditions associated with these syndromes. We therefore studied morphology and in vivo synaptic transmission of the calyx of Held synapse, a relay synapse in the medial nucleus of the trapezoid body (MNTB of the auditory brainstem, in mouse models of Tuberous sclerosis (TSC, Fragile X syndrome (FXS, Neurofibromatosis type 1 (NF1 and Costello syndrome (CS. Calyces from both Tsc1+/- and from Fmr1 knock-out (KO mice showed increased volume and surface area compared to wild-type (WT controls. In addition, in Fmr1 KO animals a larger fraction of calyces showed complex morphology. In MNTB principal neurons of Nf1+/- mice the average delay between EPSPs and APs was slightly smaller compared to wild-type controls, which could indicate an increased excitability. Otherwise, no obvious changes in synaptic transmission or short-term plasticity were observed during juxtacellular recordings in any of the four lines. Our results in these four mutants thus indicate that abnormalities of mTOR or Ras signaling do not necessarily result in changes in in vivo synaptic transmission.

  12. The three-dimensional distribution of minerals in potato tubers

    Science.gov (United States)

    Subramanian, Nithya K.; White, Philip J.; Broadley, Martin R.; Ramsay, Gavin

    2011-01-01

    Background and Aims The three-dimensional distributions of mineral elements in potato tubers provide insight into their mechanisms of transport and deposition. Many of these minerals are essential to a healthy human diet, and characterizing their distribution within the potato tuber will guide the effective utilization of this staple foodstuff. Methods The variation in mineral composition within the tuber was determined in three dimensions, after determining the orientation of the harvested tuber in the soil. The freeze-dried tuber samples were analysed for minerals using inductively coupled plasma-mass spectrometry (ICP-MS). Minerals measured included those of nutritional significance to the plant and to human consumers, such as iron, zinc, copper, calcium, magnesium, manganese, phosphorus, potassium and sulphur. Key Results The concentrations of most minerals were higher in the skin than in the flesh of tubers. The potato skin contained about 17 % of total tuber zinc, 34 % of calcium and 55 % of iron. On a fresh weight basis, most minerals were higher in tuber flesh at the stem end than the bud end of the tuber. Potassium, however, displayed a gradient in the opposite direction. The concentrations of phosphorus, copper and calcium decreased from the periphery towards the centre of the tuber. Conclusions The distribution of minerals varies greatly within the potato tuber. Low concentrations of some minerals relative to those in leaves may be due to their low mobility in phloem, whereas high concentrations in the skin may reflect direct uptake from the soil across the periderm. In tuber flesh, different minerals show distinct patterns of distribution in the tuber, several being consistent with phloem unloading in the tuber and limited onward movement. These findings have implications both for understanding directed transport of minerals in plants to stem-derived storage organs and for the dietary implications of different food preparation methods for potato tubers

  13. Reduced juvenile long-term depression in tuberous sclerosis complex is mitigated in adults by compensatory recruitment of mGluR5 and Erk signaling.

    Directory of Open Access Journals (Sweden)

    Wyatt B Potter

    Full Text Available Tuberous sclerosis complex (TSC is a multisystem genetic disease that manifests with mental retardation, tumor formation, autism, and epilepsy. Heightened signaling through the mammalian target of rapamycin (mTOR pathway is involved in TSC pathology, however it remains unclear how other signaling pathways are perturbed and contribute to disease symptoms. Reduced long-term depression (LTD was recently reported in TSC mutant mice. We find that although reduced LTD is a feature of the juvenile mutant hippocampus, heightened expression of metabotropic glutamate receptor 5 and constitutively activated Erk signaling in the adult hippocampus drives wild-type levels of LTD. Increased mGluR5 and Erk results in a novel mTOR-independent LTD in CA1 hippocampus of adult mice, and contributes to the development of epileptiform bursting activity in the TSC2(+/- CA3 region of the hippocampus. Inhibition of mGluR5 or Erk signaling restores appropriate mTOR-dependence to LTD, and significantly reduces epileptiform bursting in TSC2(+/- hippocampal slices. We also report that adult TSC2(+/- mice exhibit a subtle perseverative behavioral phenotype that is eliminated by mGluR5 antagonism. These findings highlight the potential of modulating the mGluR5-Erk pathway in a developmental stage-specific manner to treat TSC.

  14. Mini Tuber Production in Potato Via Aeroponic System

    Directory of Open Access Journals (Sweden)

    Hussein Abdullah Ahmed AHMED

    2018-02-01

    Full Text Available The aeroponic production system is one of the new applications in soilless agriculture. This system is also an alternative seed production system for mini-tuber production of potato in terms of providing optimum growth conditions, enabling potato production to be free from diseases and pests and to make economic use of agricultural inputs. This system, which is independent of climatic conditions, has the advantage of improving the vegetative growth, delaying tuber formation, prolonging the vegetative period, increasing the tuber yield per plant and total tuber yield while decreasing the tuber weight. Due to the problems experienced in potato seedling tuber production in recent years, it emerged as an alternative production system for our country.

  15. Systemic sclerosis biomarkers discovered using mass-spectrometry-based proteomics: a systematic review.

    Science.gov (United States)

    Bălănescu, Paul; Lădaru, Anca; Bălănescu, Eugenia; Băicuş, Cristian; Dan, Gheorghe Andrei

    2014-08-01

    Systemic sclerosis (SSc) is an autoimmune disease with incompletely known physiopathology. There is a great challenge to predict its course and therapeutic response using biomarkers. To critically review proteomic biomarkers discovered from biological specimens from systemic sclerosis patients using mass spectrometry technologies. Medline and Embase databases were searched in February 2014. Out of the 199 records retrieved, a total of 20 records were included, identifying 116 candidate proteomic biomarkers. Research in SSc proteomic biomarkers should focus on biomarker validation, as there are valuable mass-spectrometry proteomics studies in the literature.

  16. Facial Angiofibroma Severity Index (FASI): reliability assessment of a new tool developed to measure severity and responsiveness to therapy in tuberous sclerosis-associated facial angiofibroma.

    Science.gov (United States)

    Salido-Vallejo, R; Ruano, J; Garnacho-Saucedo, G; Godoy-Gijón, E; Llorca, D; Gómez-Fernández, C; Moreno-Giménez, J C

    2014-12-01

    Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by the development of multisystem hamartomatous tumours. Topical sirolimus has recently been suggested as a potential treatment for TSC-associated facial angiofibroma (FA). To validate a reproducible scale created for the assessment of clinical severity and treatment response in these patients. We developed a new tool, the Facial Angiofibroma Severity Index (FASI) to evaluate the grade of erythema and the size and extent of FAs. In total, 30 different photographs of patients with TSC were shown to 56 dermatologists at each evaluation. Three evaluations using the same photographs but in a different random order were performed 1 week apart. Test and retest reliability and interobserver reproducibility were determined. There was good agreement between the investigators. Inter-rater reliability showed strong correlations (> 0.98; range 0.97-0.99) with inter-rater correlation coefficients (ICCs) for the FASI. The global estimated kappa coefficient for the degree of intra-rater agreement (test-retest) was 0.94 (range 0.91-0.97). The FASI is a valid and reliable tool for measuring the clinical severity of TSC-associated FAs, which can be applied in clinical practice to evaluate the response to treatment in these patients. © 2014 British Association of Dermatologists.

  17. Magnetic resonance imaging abnormalities in multiple sclerosis: A review

    International Nuclear Information System (INIS)

    Saharian, M. A.; Shakaouri Rad, A.; Motamedi, M.; Pakdaman, H.; Radue, E. W.

    2007-01-01

    :During the last two decades, magnetic resonance imaging has been widely used In the diagnosis and treatment monitoring of multiple sclerosis. MRI, both conventional and non conventional methods, has transformed all aspects of M S research and clinical practice in recent years. Although advanced imaging methods have added much more to our knowledge about pathogenesis and natural history of the disease but their cost, availability, complexity and lack of validation have limited their use in routine clinical practice. Conventional MR techniques including proton density, T1/T2-Weighted images and fluid- attenuated inversion recovery sequences are now accepted in standard protocols for diagnosis and treatment outcome measures in clinical trials of multiple sclerosis. This review will focus on the type, morphology and evolution of M S lesions regarding conventional MRI and their use for treatment monitoring in daily clinical practice

  18. Supportive care needs of patients with amyotrophic lateral sclerosis/motor neuron disease and their caregivers: A scoping review.

    Science.gov (United States)

    Oh, Juyeon; Kim, Jung A

    2017-12-01

    To identify the supportive care needs of amyotrophic lateral sclerosis/motor neuron disease patients and their caregivers, categorise and summarise them into a Supportive Care Needs Framework and identify gaps in literature. Little is known about the supportive care needs of amyotrophic lateral sclerosis/motor neuron disease patients and their caregivers, and this subject has not previously been systemically reviewed. Scoping review. We conducted a scoping review from the MEDLINE, EMBASE, CINAHL and Cochrane databases for the period January 2000-July 2016, using the following inclusion criteria: (i) written in English only, (ii) published in peer-reviewed journals, (iii) at least part of the research considered the supportive care needs perspective of amyotrophic lateral sclerosis/motor neuron disease patients or their caregivers and (iv) the population sample included patients of amyotrophic lateral sclerosis/motor neuron disease or their caregivers. Thirty-seven articles were included. Our review shows that amyotrophic lateral sclerosis/motor neuron disease patients and their caregivers' supportive care needs were mentioned across all seven domains of the Supportive Care Needs Framework. Most common were practical needs (n = 24), followed by Informational needs (n = 19), Social needs (n = 18), Psychological needs (n = 16), Physical needs (n = 15), Emotional needs (n = 13) and Spiritual needs (n = 8). From the perspectives of amyotrophic lateral sclerosis/motor neuron disease patients and their caregivers, there is a significant need for more practical, social, informational, psychological, physical, emotional and spiritual support. The Supportive Care Needs Framework has potential utility in the development of patient-centred support services or healthcare policies and serves as an important base for further studies; especially, specific examples of each supportive care needs domain can guide in clinical settings when healthcare professionals

  19. Magnetic resonance imaging and diffusion-weighted imaging of normal-appearing white matter in children and young adults with tuberous sclerosis complex

    International Nuclear Information System (INIS)

    Arulrajah, Sahayini; Ertan, Gulhan; Tekes, Aylin; Huisman, Thierry A.G.M.; Jordan, Lori; Khaykin, Elizabeth; Izbudak, Izlem

    2009-01-01

    Patients with tuberous sclerosis complex (TSC) frequently present with neurocognitive deficits which may be related to impaired white matter maturation. The purposes of our study were (a) to evaluate the white matter maturation in children and young adults with TSC by comparing the apparent diffusion coefficient (ADC) values of normal-appearing white matter (NAWM) with age-matched healthy controls and (b) to determine the association of NAWM-ADC values with the severity of neurological symptoms in TSC patients. Twenty-three TSC patients who underwent magnetic resonance imaging/diffusion-weighted imaging between January 2000 and January 2009 were studied. ADC values of NAWM were measured in the frontal, parietal, occipital lobes, and in the pons. ADC data were compared with age-matched normative data derived from healthy controls. Patients were neurologically scored by a pediatric neurologist. Two-sample t tests and linear regression were conducted using STATA software. ADC values of NAWM were higher in TSC patients compared with healthy controls; the increase, however, only reached statistical significance in the frontal white matter and pons in the age group between 96 and 144 months and in the right parietal and occipital white matter in the age group above 144 months. There was no significant change in neurological severity score per unit increase in ADC measurement. ADC values of NAWM appear increased in TSC patients. The abnormal ADC values suggest that myelination may be delayed/impaired in TSC patients, which could explain global neurocognitive deficits. Larger prospective studies, including diffusion tensor imaging, are necessary to validate our results. (orig.)

  20. Magnetic resonance imaging and diffusion-weighted imaging of normal-appearing white matter in children and young adults with tuberous sclerosis complex

    Energy Technology Data Exchange (ETDEWEB)

    Arulrajah, Sahayini; Ertan, Gulhan; Tekes, Aylin; Huisman, Thierry A.G.M. [Johns Hopkins Hospital, Division of Pediatric Radiology, Department of Radiology and Radiological Science, Baltimore, MD (United States); Jordan, Lori [Johns Hopkins School of Public Health, Division of Pediatric Neurology, Baltimore, MD (United States); Khaykin, Elizabeth [Johns Hopkins School of Public Health, Department of Mental Health, Baltimore, MD (United States); Izbudak, Izlem [Johns Hopkins Hospital, Division of Neuroradiology, Department of Radiology and Radiological Science, Baltimore, MD (United States)

    2009-11-15

    Patients with tuberous sclerosis complex (TSC) frequently present with neurocognitive deficits which may be related to impaired white matter maturation. The purposes of our study were (a) to evaluate the white matter maturation in children and young adults with TSC by comparing the apparent diffusion coefficient (ADC) values of normal-appearing white matter (NAWM) with age-matched healthy controls and (b) to determine the association of NAWM-ADC values with the severity of neurological symptoms in TSC patients. Twenty-three TSC patients who underwent magnetic resonance imaging/diffusion-weighted imaging between January 2000 and January 2009 were studied. ADC values of NAWM were measured in the frontal, parietal, occipital lobes, and in the pons. ADC data were compared with age-matched normative data derived from healthy controls. Patients were neurologically scored by a pediatric neurologist. Two-sample t tests and linear regression were conducted using STATA software. ADC values of NAWM were higher in TSC patients compared with healthy controls; the increase, however, only reached statistical significance in the frontal white matter and pons in the age group between 96 and 144 months and in the right parietal and occipital white matter in the age group above 144 months. There was no significant change in neurological severity score per unit increase in ADC measurement. ADC values of NAWM appear increased in TSC patients. The abnormal ADC values suggest that myelination may be delayed/impaired in TSC patients, which could explain global neurocognitive deficits. Larger prospective studies, including diffusion tensor imaging, are necessary to validate our results. (orig.)

  1. Treatment of Cognitive Impairment in Multiple Sclerosis

    Science.gov (United States)

    Pierson, Susan H.; Griffith, Nathan

    2006-01-01

    Cognitive impairment in multiple sclerosis is an increasingly recognized entity. This article reviews the cognitive impairment of multiple sclerosis, its prevalence, its relationship to different types of multiple sclerosis, and its contribution to long-term functional prognosis. The discussion also focuses on the key elements of cognitive dysfunction in multiple sclerosis which distinguish it from other forms of cognitive impairment. Therapeutic interventions potentially effective for the cognitive impairment of multiple sclerosis are reviewed including the effects of disease modifying therapies and the use of physical and cognitive interventions. PMID:16720960

  2. Seasonal light interception, radiation use efficiency, growth and tuber production of the tuber crop Plectranthus edulis

    NARCIS (Netherlands)

    Taye, M.; Lommen, W.J.M.; Struik, P.C.

    2013-01-01

    Plectranthus edulis (Vatke) Agnew (Lamiaceae) is an ancient Ethiopian crop that produces below-ground, edible tubers on stolons. It is grown from seed tuber pieces. There is thus far little quantitative information on dry matter production of this crop and parameters determining growth and yield.

  3. Memristors: Memory elements in potato tubers.

    Science.gov (United States)

    Volkov, Alexander G; Nyasani, Eunice K; Blockmon, Avery L; Volkova, Maya I

    2015-01-01

    A memristor is a nonlinear element because its current-voltage characteristic is similar to that of a Lissajous pattern for nonlinear systems. This element was postulated recently and researchers are looking for it in different biosystems. We investigated electrical circuitry of red Irish potato tubers (Solanum tuberosum L.). The goal was to discover if potato tubers might have a new electrical component - a resistor with memory. The analysis was based on a cyclic current-voltage characteristic where the resistor with memory should manifest itself. We found that the electrostimulation by bipolar sinusoidal or triangle periodic waves induces electrical responses in the potato tubers with fingerprints of memristors. Tetraethylammonium chloride, an inhibitor of voltage gated K(+) channels, transforms a memristor to a resistor in potato tubers. Our results demonstrate that a voltage gated K(+) channel in the excitable tissue of potato tubers has properties of a memristor. Uncoupler carbonylcyanide-4-trifluoromethoxy-phenyl hydrazone decreases the amplitude of electrical responses at low and high frequencies of bipolar periodic sinusoidal or triangle electrostimulating waves. The discovery of memristors in plants creates a new direction in the understanding of electrical phenomena in plants.

  4. Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex.

    Directory of Open Access Journals (Sweden)

    Steven Sparagana

    Full Text Available To determine the impact of everolimus on female fertility, including menstrual irregularities, secondary amenorrhea, and luteinizing and follicle stimulating hormone levels in female patients.A pooled analysis from 3 prospective studies consisting of a core phase (≥6 months and a long-term follow-up open-label extension.One phase 2 single-center and two phase 3 multicenter studies.Data were obtained from female participants, restricted to those between 10 and 55 years of age, during 1 of 3 of the described clinical trials of everolimus. Patients had received ≥ 1 dose of everolimus.Incidence of fertility events.A total of 43/112 patients (38.4% experienced at least 1 menstrual irregularity. The most common events were amenorrhea (24.1% and irregular menstruation (17.0%. Seven patients (6.3% experienced grade 3/4 amenorrhea. When only the longest duration period of amenorrhea for each patient was considered, the median duration was 291 days. Fifteen patients attained menarche during the treatment period in any of the pooled studies. The mean age of menarche for this group was 12.4 years, similar to that of patients who were postmenarche at study entry (12.2 years. A total of 19/92 patients (20.7% who were postmenarche at baseline or during the study experienced an irregular menstruation event. An increased luteinizing hormone level was reported as an adverse event in 3/112 patients (3%, and follicle-stimulating hormone levels were within normal limits for these patients.No new safety concerns emerged regarding endocrine function and menstruation in female patients with tuberous sclerosis complex-associated subependymal giant cell astrocytoma or angiomyolipoma, who were receiving everolimus.ClinicalTrials.gov NCT00411619, NCT00789828, NCT00790400.

  5. Ocatin. A novel tuber storage protein from the andean tuber crop oca with antibacterial and antifungal activities.

    Science.gov (United States)

    Flores, Teresita; Alape-Girón, Alberto; Flores-Díaz, Marietta; Flores, Hector E

    2002-04-01

    The most abundant soluble tuber protein from the Andean crop oca (Oxalis tuberosa Mol.), named ocatin, has been purified and characterized. Ocatin accounts for 40% to 60% of the total soluble oca tuber proteins, has an apparent molecular mass of 18 kD and an isoelectric point of 4.8. This protein appears to be found only in tubers and is accumulated only within the cells of the pith and peridermis layers (peel) of the tuber as it develops. Ocatin inhibits the growth of several phytopathogenic bacteria (Agrobacterium tumefaciens, Agrobacterium radiobacter, Serratia marcescens, and Pseudomonas aureofaciens) and fungi (Phytophthora cinnamomi, Fusarium oxysporum, Rhizoctonia solani, and Nectria hematococcus). Ocatin displays substantial amino acid sequence similarity with a widely distributed group of intracellular pathogenesis-related proteins with a hitherto unknown biological function. Our results showed that ocatin serves as a storage protein, has antimicrobial properties, and belongs to the Betv 1/PR-10/MLP protein family. Our findings suggest that an ancient scaffolding protein was recruited in the oca tuber to serve a storage function and that proteins from the Betv 1/PR-10/MLP family might play a role in natural resistance to pathogens.

  6. Carbohydrate metabolism during potato tuber dormancy and sprouting

    NARCIS (Netherlands)

    Claassens, M.M.J.

    2002-01-01

    Potato tuber dormancy is part of the vegetative life cycle of potato. It refers to a period, in which no growth is occurring, although the tuber is stored under conditions that are favourable for growth. Factors in the tuber are responsible for this growth arrest; soon

  7. Tuber storage proteins.

    Science.gov (United States)

    Shewry, Peter R

    2003-06-01

    A wide range of plants are grown for their edible tubers, but five species together account for almost 90 % of the total world production. These are potato (Solanum tuberosum), cassava (Manihot esculenta), sweet potato (Ipomoea batatus), yams (Dioscorea spp.) and taro (Colocasia, Cyrtosperma and Xanthosoma spp.). All of these, except cassava, contain groups of storage proteins, but these differ in the biological properties and evolutionary relationships. Thus, patatin from potato exhibits activity as an acylhydrolase and esterase, sporamin from sweet potato is an inhibitor of trypsin, and dioscorin from yam is a carbonic anhydrase. Both sporamin and dioscorin also exhibit antioxidant and radical scavenging activity. Taro differs from the other three crops in that it contains two major types of storage protein: a trypsin inhibitor related to sporamin and a mannose-binding lectin. These characteristics indicate that tuber storage proteins have evolved independently in different species, which contrasts with the highly conserved families of storage proteins present in seeds. Furthermore, all exhibit biological activities which could contribute to resistance to pests, pathogens or abiotic stresses, indicating that they may have dual roles in the tubers.

  8. Pulsed electric field processing reduces the oxalate content of oca (Oxalis tuberosa) tubers while retaining starch grains and the general structural integrity of tubers.

    Science.gov (United States)

    Liu, Tingting; Burritt, David John; Eyres, Graham T; Oey, Indrawati

    2018-04-15

    The aims of this research were to investigate if pulsed electric field (PEF) treatments caused cellular/structural alterations in Oxalis tuberosa (oca) tubers and if PEF treatment could reduce tuber oxalate levels. Whole oca tubers were treated with PEF at different electric field strengths up to 1.2 kV/cm. PEF treatments above 0.5 kV/cm caused tubers to soften, but differences in the electrical properties of the tuber tissues led to an uneven PEF effect with the tuber inner cores softening more than the middle regions. Cell viability tests confirmed the unevenness of the PEF effect, however PEF caused no changes in overall tuber/tissue structure. Even at high electric field strengths the cell remained largely intact and most starch grains were retained within the cells. Despite the retention of starch, PEF treatment reduced tuber oxalate contents by almost 50% in some tissues and could potentially aid the development of low oxalate oca-based foods. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. YouTubers' impact on viewers' buying behavior

    OpenAIRE

    Vähäjylkkä, Miina; Lepistö, Emmi-Julia

    2017-01-01

    The aim of the thesis was to examine the influence Finnish female lifestyle YouTubers have on their viewers buying behavior, what is their decision-making process and what are the external factors influencing their buying behavior. The goal was to provide valuable infor- mation for viewers, YouTubers themselves and content providers as they work together with YouTubers to market their brand. The research was carried out using qualitative approach as eight semi-structured interviews were c...

  10. Prospective memory impairment in multiple sclerosis: a review.

    Science.gov (United States)

    Rouleau, Isabelle; Dagenais, Emmanuelle; Tremblay, Alexandra; Demers, Mélanie; Roger, Élaine; Jobin, Céline; Duquette, Pierre

    2017-08-04

    Multiple sclerosis (MS) is a progressive disease of the central nervous system affecting information processing speed, episodic memory, attention, and executive functions. MS patients also often report prospective memory (PM) failures that directly impact their functional autonomy, including professional and social life. The purpose of this paper was to review the literature concerning the assessment and remediation of PM deficits in MS. The literature pertaining to PM impairment in MS was carefully reviewed using PubMed, PsyINFO, and Google Scholar, as well as cross-references from the articles published on this topic. Since PM rehabilitation in MS patients is still in its infancy, this review mainly focuses on studies that have directly assessed PM through various measures including questionnaires, standardized clinical tests, and experimental procedures. This literature review confirms the presence of PM deficits in MS patients, even in the early stages of the disease. A further need for controlled studies on PM assessment and PM interventions in patients with MS is stressed.

  11. Retinoic acid for treatment of systemic sclerosis and morphea: A literature review.

    Science.gov (United States)

    Thomas, Renee M; Worswick, Scott; Aleshin, Maria

    2017-03-01

    Systemic sclerosis and morphea are connective tissue diseases characterized by tightening, thickening, and hardening of the skin, leading to significant morbidity. Unfortunately, current treatment options have limited efficacy for many patients. Cutaneous manifestations of these diseases arise from excess collagen deposition and fibrosis in the skin, through pathogenic mechanisms which have yet to be extensively detailed at the causal immune and cellular levels. Research elucidating the mechanism of action of retinoic acid on collagen production in the skin and case series highlighting the success of retinoic acid on the skin manifestations of systemic sclerosis and on morphea demonstrate its promise as a treatment. Herein they will briefly review the treatment options for both systemic sclerosis and morphea, and will discuss the potential of retinoic acid as a therapy and the supporting evidence from the literature, highlighting the previously published basic science and clinical studies investigating the role of retinoic acid in the treatment of sclerotic skin diseases. © 2016 Wiley Periodicals, Inc.

  12. Ocatin. A Novel Tuber Storage Protein from the Andean Tuber Crop Oca with Antibacterial and Antifungal Activities1

    Science.gov (United States)

    Flores, Teresita; Alape-Girón, Alberto; Flores-Díaz, Marietta; Flores, Hector E.

    2002-01-01

    The most abundant soluble tuber protein from the Andean crop oca (Oxalis tuberosa Mol.), named ocatin, has been purified and characterized. Ocatin accounts for 40% to 60% of the total soluble oca tuber proteins, has an apparent molecular mass of 18 kD and an isoelectric point of 4.8. This protein appears to be found only in tubers and is accumulated only within the cells of the pith and peridermis layers (peel) of the tuber as it develops. Ocatin inhibits the growth of several phytopathogenic bacteria (Agrobacterium tumefaciens, Agrobacterium radiobacter, Serratia marcescens, and Pseudomonas aureofaciens) and fungi (Phytophthora cinnamomi, Fusarium oxysporum, Rhizoctonia solani, and Nectria hematococcus). Ocatin displays substantial amino acid sequence similarity with a widely distributed group of intracellular pathogenesis-related proteins with a hitherto unknown biological function. Our results showed that ocatin serves as a storage protein, has antimicrobial properties, and belongs to the Betv 1/PR-10/MLP protein family. Our findings suggest that an ancient scaffolding protein was recruited in the oca tuber to serve a storage function and that proteins from the Betv 1/PR-10/MLP family might play a role in natural resistance to pathogens. PMID:11950978

  13. Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study.

    Directory of Open Access Journals (Sweden)

    David N Franz

    Full Text Available Everolimus, a mammalian target of rapamycin (mTOR inhibitor, has demonstrated efficacy in treating subependymal giant cell astrocytomas (SEGAs and other manifestations of tuberous sclerosis complex (TSC. However, long-term use of mTOR inhibitors might be necessary. This analysis explored long-term efficacy and safety of everolimus from the conclusion of the EXIST-1 study (NCT00789828.EXIST-1 was an international, prospective, double-blind, placebo-controlled phase 3 trial examining everolimus in patients with new or growing TSC-related SEGA. After a double-blind core phase, all remaining patients could receive everolimus in a long-term, open-label extension. Everolimus was initiated at a dose (4.5 mg/m2/day titrated to a target blood trough of 5-15 ng/mL. SEGA response rate (primary end point was defined as the proportion of patients achieving confirmed ≥50% reduction in the sum volume of target SEGA lesions from baseline in the absence of worsening nontarget SEGA lesions, new target SEGA lesions, and new or worsening hydrocephalus. Of 111 patients (median age, 9.5 years who received ≥1 dose of everolimus (median duration, 47.1 months, 57.7% (95% confidence interval [CI], 47.9-67.0 achieved SEGA response. Of 41 patients with target renal angiomyolipomas at baseline, 30 (73.2% achieved renal angiomyolipoma response. In 105 patients with ≥1 skin lesion at baseline, skin lesion response rate was 58.1%. Incidence of adverse events (AEs was comparable with that of previous reports, and occurrence of emergent AEs generally decreased over time. The most common AEs (≥30% incidence suspected to be treatment-related were stomatitis (43.2% and mouth ulceration (32.4%.Everolimus use led to sustained reduction in tumor volume, and new responses were observed for SEGA and renal angiomyolipoma from the blinded core phase of the study. These findings support the hypothesis that everolimus can safely reverse multisystem manifestations of TSC in a

  14. Validation of a tuber blight (Phytophthora infestans) prediction model

    Science.gov (United States)

    Potato tuber blight caused by Phytophthora infestans accounts for significant losses in storage. There is limited published quantitative data on predicting tuber blight. We validated a tuber blight prediction model developed in New York with cultivars Allegany, NY 101, and Katahdin using independent...

  15. OSCILLATING MODE OF TOPINAMBUR TUBERS DRYING

    Directory of Open Access Journals (Sweden)

    A. V. Golubkivich

    2015-01-01

    Full Text Available Specifics of a chemical composition of tubers and green material of a topinambur (Helianthus tuberosus, high efficiency and ecological plasticity, profitability of growing, biotechnological potential of use enable to identify a topinambur as a of high-energy cultures of the future. High moisture of various topinambur parts, features of the mechanism of a heat and mass transfer set a problem of search of the new drying methods promoting to increase dehydration efficiency and produce a quality product. A method of calculation of duration of the oscillating mode of topinambur tubers drying in a dense layer is worked out. The topinambur tubers cut on cubes with the side of 6 mm were taken as object of researches. Researches were conducted in the setting of various drying modes: two experiences at the oscillating mode with height of a material layer of 0.07 m and 0.17 m; and also as a check experiment was material drying at a constant temperature of the drying agent. Duration of the oscillating mode of topinambur tubers drying was calculated on their basis of received curves of changes of moisture content at various modes of drying. Estimate indicators were confirmed with experimental data. Results of determination of duration of the oscillating modes of topinambur tubers drying proved that efficiency of the oscillating modes is 18 percent higher, than at control experiment.

  16. Effect of irradiation on the potato tubers rotting during storage

    International Nuclear Information System (INIS)

    Weber, Z.; Fiszer, W.

    1991-01-01

    The potato tubers subjected to irradiation in autumn were found dry and soft rotting more numerous than non-irradiated ones for the whole period of storage and especially in April and May. The above mentioned phenomenon brought about a little quicker elimination of tubers naturally infected by pectinolytic bacteria. Susceptibility of both kinds of tubers was similar to Fusarium sulphureum introduced under a cover tissue. The irradiation of potato tubers in autumn 1986 led to the appearance of some hard tubers with brown ring spots in spring 1987

  17. Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis.

    Science.gov (United States)

    Petzold, Axel; Balcer, Laura J; Calabresi, Peter A; Costello, Fiona; Frohman, Teresa C; Frohman, Elliot M; Martinez-Lapiscina, Elena H; Green, Ari J; Kardon, Randy; Outteryck, Olivier; Paul, Friedemann; Schippling, Sven; Vermersch, Patrik; Villoslada, Pablo; Balk, Lisanne J

    2017-10-01

    Structural retinal imaging biomarkers are important for early recognition and monitoring of inflammation and neurodegeneration in multiple sclerosis. With the introduction of spectral domain optical coherence tomography (SD-OCT), supervised automated segmentation of individual retinal layers is possible. We aimed to investigate which retinal layers show atrophy associated with neurodegeneration in multiple sclerosis when measured with SD-OCT. In this systematic review and meta-analysis, we searched for studies in which SD-OCT was used to look at the retina in people with multiple sclerosis with or without optic neuritis in PubMed, Web of Science, and Google Scholar between Nov 22, 1991, and April 19, 2016. Data were taken from cross-sectional cohorts and from one timepoint from longitudinal studies (at least 3 months after onset in studies of optic neuritis). We classified data on eyes into healthy controls, multiple-sclerosis-associated optic neuritis (MSON), and multiple sclerosis without optic neuritis (MSNON). We assessed thickness of the retinal layers and we rated individual layer segmentation performance by random effects meta-analysis for MSON eyes versus control eyes, MSNON eyes versus control eyes, and MSNON eyes versus MSON eyes. We excluded relevant sources of bias by funnel plots. Of 25 497 records identified, 110 articles were eligible and 40 reported data (in total 5776 eyes from patients with multiple sclerosis [1667 MSON eyes and 4109 MSNON eyes] and 1697 eyes from healthy controls) that met published OCT quality control criteria and were suitable for meta-analysis. Compared with control eyes, the peripapillary retinal nerve fibre layer (RNFL) showed thinning in MSON eyes (mean difference -20·10 μm, 95% CI -22·76 to -17·44; pmultiple sclerosis and control eyes were found in the peripapillary RNFL and macular GCIPL. Inflammatory disease activity might be captured by the INL. Because of the consistency, robustness, and large effect size, we

  18. Anatomy of the human hypothalamus (chiasmatic and tuberal region).

    Science.gov (United States)

    Braak, H; Braak, E

    1992-01-01

    The hypothalamus sensu stricto consists of the chiasmatic, the tuberal and the mamillary region. The present study is confined to the poorly myelinated chiasmatic and tuberal region. Both regions harbor many nuclear grays with relatively clear-cut boundaries embedded in an ill-defined nerve cell assembly referred to as the hypothalamic gray. Prominent components of the chiasmatic region are the magnocellular neurosecretory complex (supraoptic nucleus, paraventricular nucleus, accessory neurosecretory nucleus), the sexually dimorphic intermediate nucleus, the suprachiasmatic and retrochiasmatic nuclei. The dominating structure of the tuberal region is the complex of the ventromedial, posteromedial and dorsomedial nuclei supplemented by the periventricular and infundibular nuclei. Lateral portions of the tuber cinereum harbor the lateral tuberal nucleus and the tuberomamillary nucleus. The lateral tuberal nucleus exhibits pronounced cell loss in Huntington's chorea and is also severely involved in cases of dementia with argyrophilic grains. The large nerve cells of the tuberomamillary nucleus show particularly severe affection in both Alzheimer's (intraneuronal neurofibrillary changes) and Parkinson's disease (Lewy bodies).

  19. Process for producing vegetative and tuber growth regulator

    Science.gov (United States)

    Stutte, Gary W. (Inventor); Yorio, Neil C. (Inventor)

    1999-01-01

    A process of making a vegetative and tuber growth regulator. The vegetative and tuber growth regulator is made by growing potato plants in a recirculating hydroponic system for a sufficient time to produce the growth regulator. Also, the use of the vegetative and growth regulator on solanaceous plants, tuber forming plants and ornamental seedlings by contacting the roots or shoots of the plant with a sufficient amount of the growth regulator to regulate the growth of the plant and one more of canopy size, plant height, stem length, internode number and presence of tubers in fresh mass. Finally, a method for regulating the growth of potato plants using a recirculating hydroponic system is described.

  20. The genetics of multiple sclerosis: review of current and emerging candidates

    Directory of Open Access Journals (Sweden)

    Muñoz-Culla M

    2013-08-01

    Full Text Available Maider Muñoz-Culla,1,2 Haritz Irizar,1,2 David Otaegui1,2 1Multiple Sclerosis Unit, Instituto Biodonostia, San Sebastián, Spain; 2Red Española de Esclerosis Múltiple (REEM, Barcelona, Spain Abstract: Multiple sclerosis (MS is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it does not explain the whole heritability of the disease. To find other non-human leukocyte antigen loci associated with the disease, high-throughput genotyping, sequencing, and gene-expression studies have been performed, producing a valuable quantity of information. An overview of the genomic and expression studies is provided in this review, as well as microRNA-expression studies, highlighting the importance of combining all the layers of information in order to elucidate the causes or pathological mechanisms occurring in the disease. Genetics in MS is a promising field that is presumably going to be very productive in the next decade understanding the cross talk between all the factors contributing to the development of MS. Keywords: multiple sclerosis, genetics, gene expression, microRNA

  1. Chemical variations observed in irradiated, treated with IPC and control potato tubers

    International Nuclear Information System (INIS)

    Mazon Matanzo, M. P.; Fernandez Gonzalez, J.

    1976-01-01

    The content in soluble sugars, ascorbic acid and phenolic acids of potato tubers preserved by irradiation and IPC, during storage period of five months are studied. In the irradiated tubers, soluble sugars increased immediately after the irradiation, in relation to the control tubers reaching inferior values to those reached by the control tubers, at the end of the storage period. The content in ascorbic acid is generally kept higher in the irradiated and IPC treated tubers than in the control tubers and the content in phenolic acids increased in the irradiated and IPC treated tubers by immediate effect of this treatment. (Author) 39 refs

  2. Chemical variations observed in irradiated, treated with IPC and control potato tubers

    International Nuclear Information System (INIS)

    Mazon Matanzo, M.P.; Fernandez Gonzalez, J.

    1976-01-01

    The content in soluble sugars, ascorbic acid and phenolic acids of potato tubers preserved by irradiation and IPC, during a storage period of five months are studied. In the irradiated tubers, soluble sugars increased immediately after the irradiation, in relation to the control tubers reaching inferior values to those reached by the control tubers, at the end of the storage period. The content in ascorbic acid is generally kept higher in the irradiated and IPC treated tubers than in the control tubers and the content in phenolic acids increased in the irradiated and IPC treated tubers by immediate effect of this treatment.(author) [es

  3. Determining Specific Window Period for Common Scab Disease Infection in Potato Tubers

    Directory of Open Access Journals (Sweden)

    Bhim Bahadur Khatri

    2017-05-01

    Full Text Available A series of experiments was conducted under glasshouse and hydroponic conditions to determine the specific window period for common scab disease infection in potato tubers. The study was performed in a glasshouse system where separate tubers from the root zone were inoculated at different intervals during plant growth along with a novel hydroponic system to inoculate individual tubers at specific times of development growth allowing non-destructive observations of common scab symptoms developing. The window of tuber susceptibility to common scab disease infection was shown to vary with the season or conditions under which the plants were grown. Different internodes on tubers were found susceptible to infection at different times during tuber development. Basal internodes, which are the first sections of the tuber to expand, were susceptible to infection in the beginning of tuber development, whereas apical internodes only became susceptible later in tuber growth when the basal internodes were no longer susceptible.

  4. Comparative nutritional and mycochemical contents, biological activities and LC/MS screening of tuber from new recipe cultivation technique with wild type tuber of tiger's milk mushroom of species Lignosus rhinocerus.

    Science.gov (United States)

    Jamil, Nor Azreen Mohd; Rashid, Noraswati Mohd Nor; Hamid, Mohamad Hasril Abd; Rahmad, Norasfaliza; Al-Obaidi, Jameel R

    2017-12-04

    Tiger's milk mushroom is known for its valuable medicinal properties, especially the tuber part. However, wild tuber is very hard to obtain as it grows underground. This study first aimed to cultivate tiger's milk mushroom tuber through a cultivation technique, and second to compare nutritional and mycochemical contents, antioxidant and cytotoxic activities and compound screening of the cultivated tuber with the wild tuber. Results showed an increase in carbohydrate content by 45.81% and protein content by 123.68% in the cultivated tuber while fat content reduced by 13.04%. Cultivated tuber also showed an increase of up to 64.21% for total flavonoid-like compounds and 62.51% of total β-D-glucan compared to the wild tuber. The antioxidant activity of cultivated tuber and wild tuber was 760 and 840 µg mL -1 , respectively. The cytotoxic activity of boiled water extract of cultivated tuber against a human lung cancer cell line (A549) was 65.50 ± 2.12 µg mL -1 and against a human breast cancer cell line (MCF7) was 19.35 ± 0.11 µg mL -1 . β-D-glucan extract from the purification of boiled water extract of cultivated tuber showed cytotoxic activity at 57.78 ± 2.29 µg mL -1 against A549 and 33.50 ± 1.41 µg mL -1 against MCF7. However, the β-glucan extract from wild tuber did not show a cytotoxic effect against either the A549 or MCF7 cell lines. Also, neither of the extracts from cultivated tuber and wild tuber showed an effect against a normal cell line (MRC5). Compound profiling through by liquid chromatography mass spectrometry (LC/MS) showed the appearance of new compounds in the cultivated tuber. In conclusion, our cultivated tuber of tiger's milk mushroom using a new recipe cultivation technique showed improved nutrient and bioactive compound contents, and antioxidant and cytotoxic activities compared to the wild tuber. Further investigations are required to obtain a better quality of cultivated tuber.

  5. The potato tuber mitochondrial proteome

    DEFF Research Database (Denmark)

    Salvato, Fernanda; Havelund, Jesper Foged; Chen, Mingjie

    2014-01-01

    Mitochondria are called the powerhouses of the cell. To better understand the role of mitochondria in maintaining and regulating metabolism in storage tissues, highly purified mitochondria were isolated from dormant potato tubers (Solanum tuberosum 'Folva') and their proteome investigated. Proteins...... manner using normalized spectral counts including as many as 5-fold more "extreme" proteins (low mass, high isoelectric point, hydrophobic) than previous mitochondrial proteome studies. We estimate that this compendium of proteins represents a high coverage of the potato tuber mitochondrial proteome...

  6. A systematic review of the incidence and prevalence of cancer in multiple sclerosis

    DEFF Research Database (Denmark)

    Marrie, Ruth Ann; Reider, Nadia; Cohen, Jeffrey

    2015-01-01

    BACKGROUND: Studies of cancer incidence and prevalence in multiple sclerosis (MS) have produced conflicting results. OBJECTIVE: To estimate the incidence and prevalence of cancer in persons with MS and review the quality of included studies. METHODS: We searched the PUBMED, SCOPUS, Web of Knowledge...

  7. Assessing digestibility of Hadza tubers using a dynamic in-vitro model.

    Science.gov (United States)

    Schnorr, Stephanie L; Crittenden, Alyssa N; Venema, Koen; Marlowe, Frank W; Henry, Amanda G

    2015-11-01

    Bioaccessibility is a useful measure for assessing the biological value of a particular nutrient from food, especially foods such as tubers. The wild tubers exploited by Hadza foragers in Tanzania are of interest because they are nontoxic, consumed raw or briefly roasted, and entail substantial physical barriers to consumers. In this study, we attempted to elucidate the biological value of Hadza tubers by measuring the absorption of glucose through in-vitro digestion. We quantified digestibility using data from 24 experimental trials on four species of Hadza tuber using a dynamic in-vitro model that replicates digestion in the stomach and small intestine. Analysis of glucose in the input meal and output dialysate revealed the accessible glucose fraction. We also conducted assays for protein, vitamin, and mineral content on whole tubers and meal fractions. Bioaccessibility of glucose varies depending on tuber species. Holding effects of chewing constant, brief roasting had negligible effects, but high intraspecific variation precludes interpretive power. Overall, Hadza tubers are very resistant to digestion, with between one- and two-thirds of glucose absorbed on average. Glucose absorption negatively correlated with glucose concentration of the tubers. Roasting may provide other benefits such as ease of peeling and chewing to extract edible parenchymatous tissue. A powerful factor in glucose acquisition is tuber quality, placing emphasis on the skill of the forager. Other nutrient assays yielded unexpectedly high values for protein, iron, and iodine, making tubers potentially valuable resources beyond caloric content. © 2015 Wiley Periodicals, Inc.

  8. Effect of gamma radiation and formulated essential oils on stored potato tubers

    International Nuclear Information System (INIS)

    Abo-El Seoud, M.A.; Helal, I.M.M.; Sarhan, M.M.; Galal, A. M.

    2010-01-01

    Potato tubers were irradiated with gamma radiation at doses of 0, 0.5, 0.15, 0.3 and 0.6 K-Gy. Irradiated and non-irradiated tubers were soaked in biocides formulated from essential oils of fennel, peppermint and caraway oil. All treated and non-treated tubers were stored at room temperature (20 ±1 degree C) for period of 150 days. Samples were taken every 30 days for different quality determinations. Results showed that non-treated tubers were decayed and appear to be sprouted continuously alongside the different storage periods. However, exposing the studied tubers to gamma radiation induced a promising effect for retarding this decay and sprouting. Moreover, soaking potato tubers in the formulated biocides induced further interruption for tubers decay and sprouting. In addition, the applied treatment exhibited other positive effects for keeping the good quality of the studied tubers during storage.

  9. Treatment of Cognitive Impairment in Multiple Sclerosis

    OpenAIRE

    Pierson, Susan H.; Griffith, Nathan

    2006-01-01

    Cognitive impairment in multiple sclerosis is an increasingly recognized entity. This article reviews the cognitive impairment of multiple sclerosis, its prevalence, its relationship to different types of multiple sclerosis, and its contribution to long-term functional prognosis. The discussion also focuses on the key elements of cognitive dysfunction in multiple sclerosis which distinguish it from other forms of cognitive impairment. Therapeutic interventions potentially effective for the co...

  10. A systematic review of the incidence and prevalence of comorbidity in multiple sclerosis

    DEFF Research Database (Denmark)

    Marrie, Ruth Ann; Cohen, Jeffrey; Stuve, Olaf

    2015-01-01

    BACKGROUND: Comorbidity is an area of increasing interest in multiple sclerosis (MS). OBJECTIVE: The objective of this review is to estimate the incidence and prevalence of comorbidity in people with MS and assess the quality of included studies. METHODS: We searched the PubMed, SCOPUS, EMBASE...

  11. Physiotherapy Rehabilitation for People With Progressive Multiple Sclerosis: A Systematic Review.

    Science.gov (United States)

    Campbell, Evan; Coulter, Elaine H; Mattison, Paul G; Miller, Linda; McFadyen, Angus; Paul, Lorna

    2016-01-01

    To assess the efficacy of physiotherapy interventions, including exercise therapy, for the rehabilitation of people with progressive multiple sclerosis. Five databases (Cochrane Library, Physiotherapy Evidence Database [PEDro], Web of Science Core Collections, MEDLINE, Embase) and reference lists of relevant articles were searched. Randomized experimental trials, including participants with progressive multiple sclerosis and investigating a physiotherapy intervention or an intervention containing a physiotherapy element, were included. Data were independently extracted using a standardized form, and methodologic quality was assessed using the PEDro scale. Thirteen studies (described by 15 articles) were identified and scored between 5 and 9 out of 10 on the PEDro scale. Eight interventions were assessed: exercise therapy, multidisciplinary rehabilitation, functional electrical stimulation, botulinum toxin type A injections and manual stretches, inspiratory muscle training, therapeutic standing, acupuncture, and body weight-supported treadmill training. All studies, apart from 1, produced positive results in at least 1 outcome measure; however, only 1 article used a power calculation to determine the sample size and because of dropouts the results were subsequently underpowered. This review suggests that physiotherapy may be effective for the rehabilitation of people with progressive multiple sclerosis. However, further appropriately powered studies are required. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  12. Electroantennogram responses of the potato tuber moth ...

    Indian Academy of Sciences (India)

    PRAKASH

    lay eggs in soil cracks and on exposed tubers (Radcliffe ... Compounds belonging to the fatty acid derivatives class appear to be important for an oligophagous pest such as the potato tuber moth and the findings are discussed in relation to host plant selection in ..... specific adaptation of the set of olfactory receptors on the.

  13. Mycorrhization of pecan (Carya illinoinensis) with black truffles: Tuber melanosporum and Tuber brumale.

    Science.gov (United States)

    Marozzi, Giorgio; Sánchez, Sergio; Benucci, Gian Maria Niccolò; Bonito, Gregory; Falini, Leonardo Baciarelli; Albertini, Emidio; Donnini, Domizia

    2017-04-01

    Pecan, Carya illinoinensis, is an economically important nut producing tree that can establish ectomycorrhizal symbiosis with a high diversity of fungi. In the southern USA, truffles (Tuber spp.) sometimes fruit prolifically in cultivated pecan orchards and regularly associate with pecan roots as ectomycorrhizae (ECMs). It has been demonstrated that some valuable European truffle species (e.g., Tuber borchii and Tuber aestivum) can form ECMs with pecan seedlings in nursery conditions. Thus, pecan may represent an attractive alternative host to forest trees for truffle growers given the potential for co-cropping truffles and pecans. To further explore the capacity of pecan to host truffle symbionts, pecan seedlings were inoculated with species of black truffles that are economically important in Europe, T. melanosporum and T. brumale. Ectomycorrhizae were characterized molecularly and their morphology was described in detail. Mycorrhization rates on pecan roots were assessed over a 2-year period. Tuber melanosporum and T. brumale produced well-formed ECMs with a level of root colonization in the first year of 37.3 and 34.5%, respectively. After 24 months, the level of mycorrhization increased for T. brumale (49.4%) and decreased for T. melanosporum (10.5%) inversely to that of non-target ECM greenhouse contaminants (e.g., Sphaerosporella brunnea, Trichophaea woolhopeia, Pulvinula constellatio). To assess whether mating types segregated in T. melanosporum as been reported for other host species, we amplified the mating-type locus from single T. melanosporum ECM belonging to different seedlings over a 2-year period. The two mating idiomorphs were nearly equally represented along the 2-year time span: MAT 1-1-1 decreased from 59.4% in the first year to 48.5% in the second year after inoculation. Data reported in this study add to knowledge on the mycorrhization of pecan trees with commercial truffles and has application to truffle and nut co-cropping systems.

  14. Tuberous sclerosis

    Science.gov (United States)

    ... on the face containing many blood vessels (facial angiofibromas) Raised patches of skin with an orange-peel ... need surgery. Small growths on the face (facial angiofibromas) may be removed by laser treatment. These growths ...

  15. A review on potential roles of vitamins in incidence, progression, and improvement of multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Matin Khosravi-Largani

    2018-03-01

    Full Text Available Multiple Sclerosis (MS is an inflammatory and neurodegenerative disease, with unknown etiology. Vitamins, as important micronutrients playing different roles in body, seem to be important in MS pathogenesis. In vitro, in vivo and human studies, supports the protective role of some vitamins in MS occurrence or progression. Current study reviews recent insights and reports about the importance of vitamins in MS incidence or progression. In accordance, the importance of all water and fat-soluble vitamins in MS pathogenesis based on observational studies in human population and their role in the function of immune system as well as possible therapeutic opportunities are discussed in depth throughout this review. Keywords: Multiple sclerosis, Experimental autoimmune encephalomyelitis, Vitamin A, Vitamin E, Vitamin D, Folic acid, Vitamin B 12, Vitamins

  16. Effect of storage on the pasting characteristics of yam tubers ...

    African Journals Online (AJOL)

    Storage of yam tubers is an age long practice in yam growing communities of West Africa, while pasting characteristic is an important indicator of potential utilization of yam tubers. The study was carried out to investigate effect of storage of the tubers on their pasting characteristics. Six varieties each of D. alata and D.

  17. Effect of potato plants grown from tubers irradiated with low doses of gamma radiation on feeding and reproductive behaviours of potato tuber moth Phtorimaea Operculella (Lep., Gelechiidae)

    International Nuclear Information System (INIS)

    Saour, G.; Makee, H.; Al-Oudat, M.

    1997-09-01

    The feeding behavior of potato tuber moth Phthorimaea Operculella (Lep., Gelechiidae) larvae reared on leaves and tubers of potato plants, which its seeds had been irradiated with low doses of gamma irradiation (1, 3, 5, 10, Gy) has been studied. Significant differences in the larval developmental time, pupae developmental time, pupae weight, mortality, fecundity and percentage of egg hatch, was observed between insects fed on plants grown from the irradiated seeds and the control. It appears that leaves of potato plants grown from the irradiated seeds, particularly those of 3 Gy, became more favourable for the larvae, whilst the resulted tubers, except tubers of the dose of 10 Gy, which could have repellent properties became more resistant to potato tuber moth. Plant development stage and tubers storage at ambient temperatures condition affect the degree of sensitivity of the larvae. Leaves and tubers of 10 Gy irradiated seeds became more suitable for insect development, indicating that the later dose may inhibit the production of secondary plant metabolites chemical compounds. (author)

  18. Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

    Science.gov (United States)

    Zeng, Ling-Hui; Rensing, Nicholas R; Zhang, Bo; Gutmann, David H; Gambello, Michael J; Wong, Michael

    2011-02-01

    Tuberous Sclerosis Complex (TSC) is an autosomal dominant, multi-system disorder, typically involving severe neurological symptoms, such as epilepsy, cognitive deficits and autism. Two genes, TSC1 and TSC2, encoding the proteins hamartin and tuberin, respectively, have been identified as causing TSC. Although there is a substantial overlap in the clinical phenotype produced by TSC1 and TSC2 mutations, accumulating evidence indicates that TSC2 mutations cause more severe neurological manifestations than TSC1 mutations. In this study, the neurological phenotype of a novel mouse model involving conditional inactivation of the Tsc2 gene in glial-fibrillary acidic protein (GFAP)-positive cells (Tsc2(GFAP1)CKO mice) was characterized and compared with previously generated Tsc1(GFAP1)CKO mice. Similar to Tsc1(GFAP1)CKO mice, Tsc2(GFAP1)CKO mice exhibited epilepsy, premature death, progressive megencephaly, diffuse glial proliferation, dispersion of hippocampal pyramidal cells and decreased astrocyte glutamate transporter expression. However, Tsc2(GFAP1)CKO mice had an earlier onset and higher frequency of seizures, as well as significantly more severe histological abnormalities, compared with Tsc1(GFAP1)CKO mice. The differences between Tsc1(GFAP1)CKO and Tsc2(GFAP1)CKO mice were correlated with higher levels of mammalian target of rapamycin (mTOR) activation in Tsc2(GFAP1)CKO mice and were reversed by the mTOR inhibitor, rapamycin. These findings provide novel evidence in mouse models that Tsc2 mutations intrinsically cause a more severe neurological phenotype than Tsc1 mutations and suggest that the difference in phenotype may be related to the degree to which Tsc1 and Tsc2 inactivation causes abnormal mTOR activation.

  19. Impact of selenium enrichment on seed potato tubers

    Directory of Open Access Journals (Sweden)

    M. TURAKAINEN

    2008-12-01

    Full Text Available The aim of this study was to investigate the effect of Se enrichment on the growth of sprouts and growth vigour of seed potatoes (Solanum tuberosum L. stored for 2 to 8 months. Our results showed that Se did not affect the duration of dormancy. At the high addition levels (0.075 and 0.9 mg kg-1 quartz sand, Se had some positive effects on the growth of sprouts. The peak sprouting capacity was reached after 8 months of storage. The highest Se enrichment of tubers had some positive effect on the free putrescine content in sprouts. However, the better growth of sprouts was not consistent with the growth vigour of the seed tubers and yield produced. Selenium had no significant effect on the malondialdehyde (MDA or on the concentration of soluble sugars and starch. No significant effect of added Se on the early growth, stem and tuber numbers and yield parameters was observed. Irrespective of the level of Se added, the highest yield was harvested from plants produced with seed tubers stored for 6 months. Our results indicate that Se had some positive effects on the growth of sprouts, but it had no consistent effect on the growth vigour of seed tubers.;

  20. Update on riboflavin and multiple sclerosis: a systematic review

    Science.gov (United States)

    Naghashpour, Mahshid; Jafarirad, Sima; Amani, Reza; Sarkaki, Alireza; Saedisomeolia, Ahmad

    2017-01-01

    Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS). Riboflavin plays an important role in myelin formation, and its deficiency is implicated as a risk factor for multiple sclerosis. Here, we systematically reviewed the literature concerning the health benefits of riboflavin on MS. The literature recorded within four main databases, including relevant clinical trials, experimental, and case-control studies from 1976 to 2017 were considered. Both human and animal studies were included for review, with no restrictions on age, gender, or ethnicity. Experimental studies demonstrated that riboflavin deficiency triggers neurologic abnormalities related to peripheral neuropathies such as demyelinating neuropathy. Moreover, randomized controlled trials (RCT) and case-control studies in which MS patients received riboflavin supplementation or had higher dietary riboflavin intake showed improvements in neurological motor disability. Riboflavin is a cofactor of xanthine oxidase and its deficiency exacerbates low uric acid caused by high copper levels, leading to myelin degeneration. The vitamin additionally plays a significant role in the normal functioning of glutathione reductase (GR) as an antioxidant enzyme, and conditions of riboflavin deficiency lead to oxidative damage. Riboflavin promotes the gene and protein levels of brain-derived neurotrophic factor (BDNF) in the CNS of an animal model of MS, suggesting that BDNF mediates the beneficial effect of riboflavin on neurological motor disability. Research to date generally supports the role of riboflavin in MS outcomes. However, further observational and interventional studies on human populations are warranted to validate the effects of riboflavin. PMID:29085589

  1. Update on riboflavin and multiple sclerosis: a systematic review

    Directory of Open Access Journals (Sweden)

    Mahshid Naghashpour

    2017-09-01

    Full Text Available Multiple sclerosis (MS is an inflammatory demyelinating disease of the central nervous system (CNS. Riboflavin plays an important role in myelin formation, and its deficiency is implicated as a risk factor for multiple sclerosis. Here, we systematically reviewed the literature concerning the health benefits of riboflavin on MS. The literature recorded within four main databases, including relevant clinical trials, experimental, and case-control studies from 1976 to 2017 were considered. Both human and animal studies were included for review, with no restrictions on age, gender, or ethnicity.  Experimental studies demonstrated that riboflavin deficiency triggers neurologic abnormalities related to peripheral neuropathies such as demyelinating neuropathy. Moreover, randomized controlled trials (RCT and case-control studies in which MS patients received riboflavin supplementation or had higher dietary riboflavin intake showed improvements in neurological motor disability. Riboflavin is a cofactor of xanthine oxidase and its deficiency exacerbates low uric acid caused by high copper levels, leading to myelin degeneration. The vitamin additionally plays a significant role in the normal functioning of glutathione reductase (GR as an antioxidant enzyme, and conditions of riboflavin deficiency lead to oxidative damage. Riboflavin promotes the gene and protein levels of brain-derived neurotrophic factor (BDNF in the CNS of an animal model of MS, suggesting that BDNF mediates the beneficial effect of riboflavin on neurological motor disability. Research to date generally supports the role of riboflavin in MS outcomes. However, further observational and interventional studies on human populations are warranted to validate the effects of riboflavin.

  2. Expression of mung bean pectin acetyl esterase in potato tubers: effect on acetylation of cell wall polymers and tuber mechanical properties.

    Science.gov (United States)

    Orfila, Caroline; Dal Degan, Florence; Jørgensen, Bodil; Scheller, Henrik Vibe; Ray, Peter M; Ulvskov, Peter

    2012-07-01

    A mung bean (Vigna radiata) pectin acetyl esterase (CAA67728) was heterologously expressed in tubers of potato (Solanum tuberosum) under the control of the granule-bound starch synthase promoter or the patatin promoter in order to probe the significance of O-acetylation on cell wall and tissue properties. The recombinant tubers showed no apparent macroscopic phenotype. The enzyme was recovered from transgenic tubers using a high ionic strength buffer and the extract was active against a range of pectic substrates. Partial in vivo de-acetylation of cell wall polysaccharides occurred in the transformants, as shown by a 39% decrease in the degree of acetylation (DA) of tuber cell wall material (CWM). Treatment of CWM using a combination of endo-polygalacturonase and pectin methyl esterase extracted more pectin polymers from the transformed tissue compared to wild type. The largest effect of the pectin acetyl esterase (68% decrease in DA) was seen in the residue from this extraction, suggesting that the enzyme is preferentially active on acetylated pectin that is tightly bound to the cell wall. The effects of acetylation on tuber mechanical properties were investigated by tests of failure under compression and by determination of viscoelastic relaxation spectra. These tests suggested that de-acetylation resulted in a stiffer tuber tissue and a stronger cell wall matrix, as a result of changes to a rapidly relaxing viscoelastic component. These results are discussed in relation to the role of pectin acetylation in primary cell walls and its implications for industrial uses of potato fibres.

  3. A comprehensive review of amyotrophic lateral sclerosis

    Science.gov (United States)

    Zarei, Sara; Carr, Karen; Reiley, Luz; Diaz, Kelvin; Guerra, Orleiquis; Altamirano, Pablo Fernandez; Pagani, Wilfredo; Lodin, Daud; Orozco, Gloria; Chinea, Angel

    2015-01-01

    Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5–10% of the cases are familial ALS. Both sporadic and familial ALS (FALS) are associated with degeneration of cortical and spinal motor neurons. The etiology of ALS remains unknown. However, mutations of superoxide dismutase 1 have been known as the most common cause of FALS. In this study, we provide a comprehensive review of ALS. We cover all aspects of the disease including epidemiology, comorbidities, environmental risk factor, molecular mechanism, genetic factors, symptoms, diagnostic, treatment, and even the available supplement and management of ALS. This will provide the reader with an advantage of receiving a broad range of information about the disease. PMID:26629397

  4. Nutriceutical potential of Pleurotus tuber-regium sclerotium

    Directory of Open Access Journals (Sweden)

    R. C. Ohiri

    2018-04-01

    Full Text Available The aim of the study was to determine the composition of the sclerotium of Pleurotus tuber-regium and to analyze its nutritional potential. Major minerals and micronutrients content of the P. tuber-regium sclerotium were determined. The study has shown fairly high concentrations of potassium and magnesium as major minerals with values of 60.66 ± 4.13 and 41.79 ± 3.14 mg/kg, while manganese and zinc were micronutrients with the highest values of 1.20 ± 0.10 and 0.95 ± 0.07 mg/kg. Glutamic acid and aspartic acid were also observed in high concentrations with values of 11.51 ± 1.01 and 5.52 ± 0.86 mg/kg. The mushroom powder of P. tuber-regium was a source for production of oil, which was analyzed by GC-MS method. Benzenedicarboxylic acid mono-(2-ethylhexyl ester and benzenedicarboxylic acid butyl-cyclohexyl ester were volatile constituents predominating with percentage total of 78.7 and 5.2, respectively. It is concluded that the presence of mineral elements, amino acids and volatile components observed in this fungus indicated the presence of the nutritional potential in the sclerotia of P. tuber-regium.

  5. Use of the Godin leisure-time exercise questionnaire in multiple sclerosis research: a comprehensive narrative review.

    Science.gov (United States)

    Sikes, Elizabeth Morghen; Richardson, Emma V; Cederberg, Katie J; Sasaki, Jeffer E; Sandroff, Brian M; Motl, Robert W

    2018-01-17

    The Godin Leisure-Time Exercise Questionnaire has been a commonly applied measure of physical activity in research among persons with multiple sclerosis over the past decade. This paper provides a comprehensive description of its application and inclusion in research on physical activity in multiple sclerosis. This comprehensive, narrative review included papers that were published between 1985 and 2017, written in English, involved participants with multiple sclerosis as a primary population, measured physical activity, and cited one of the two original Godin papers. There is a broad scope of research that has included the Godin Leisure-Time Exercise Questionnaire in persons with multiple sclerosis. Overall, 8 papers evaluated its psychometric properties, 21 evaluated patterns of physical activity, 24 evaluated correlates or determinants of physical activity, 28 evaluated outcomes or consequences of physical activity, and 15 evaluated physical activity interventions. The Godin Leisure-Time Exercise Questionnaire is a valid self-report measure of physical activity in persons with multiple sclerosis, and further is an appropriate, simple, and effective tool for describing patterns of physical activity, examining correlates and outcomes of physical activity, and provides a sensitive outcome for measuring change in physical activity after an intervention. Implications for rehabilitation There is increasing interest in physical activity and its benefits in multiple sclerosis. The study of physical activity requires appropriate and standardized measures. The Godin Leisure-Time Exercise Questionnaire is a common self-report measure of physical activity for persons with multiple sclerosis. Godin Leisure-Time Exercise Questionnaire scores are reliable measures of physical activity in persons with multiple sclerosis. The Godin Leisure-Time Exercise Questionnaire further is an appropriate, simple, and effective tool for describing patterns of physical activity, examining

  6. Multiple Sclerosis and Employment: A Research Review Based on the International Classification of Function

    Science.gov (United States)

    Frain, Michael P.; Bishop, Malachy; Rumrill, Phillip D., Jr.; Chan, Fong; Tansey, Timothy N.; Strauser, David; Chiu, Chung-Yi

    2015-01-01

    Multiple sclerosis (MS) is an unpredictable, sometimes progressive chronic illness affecting people in the prime of their working lives. This article reviews the effects of MS on employment based on the World Health Organization's International Classification of Functioning, Disability and Health model. Correlations between employment and…

  7. Detection, identification and differentiation of Pectobacterium and Dickeya species causing potato blackleg and tuber soft rot: a review.

    Science.gov (United States)

    Czajkowski, R; Pérombelon, McM; Jafra, S; Lojkowska, E; Potrykus, M; van der Wolf, Jm; Sledz, W

    2015-01-01

    The soft rot Enterobacteriaceae (SRE) Pectobacterium and Dickeya species (formerly classified as pectinolytic Erwinia spp.) cause important diseases on potato and other arable and horticultural crops. They may affect the growing potato plant causing blackleg and are responsible for tuber soft rot in storage thereby reducing yield and quality. Efficient and cost-effective detection and identification methods are essential to investigate the ecology and pathogenesis of the SRE as well as in seed certification programmes. The aim of this review was to collect all existing information on methods available for SRE detection. The review reports on the sampling and preparation of plant material for testing and on over thirty methods to detect, identify and differentiate the soft rot and blackleg causing bacteria to species and subspecies level. These include methods based on biochemical characters, serology, molecular techniques which rely on DNA sequence amplification as well as several less-investigated ones.

  8. Biological and biochemical studies on irradiated potato tubers

    International Nuclear Information System (INIS)

    Salem, E.A.F.M

    2008-01-01

    The present investigation aimed to study and overcome two important diseases which attacks potato plant, using some chemical and physical treatments. The first disease was pre harvest brown rot caused by ralstonia solanacearum and the second was post harvest dry rot caused by fusarium oxysporum. The results are summarized as follows: firstly brown rot : 1- Foliar treatment of salicylic acid or calcium chloride on potato plants leads to increasing in plant height and number of potato tubers, since salicylic acid give the highest value of plant height and also calcium chloride give the highest number of potato tubers. Also, this treatment leads to insignificant decreasing in number of potato tubers infected by brown rot. 2- The bacteria ralstonia solanacearum isolated from infected tubers obtained from the project of brown rot, Ministry of agriculture, Egypt, added with irrigate water to the pots this bacteria could infect healthy potato plant and the symptoms of brown rot observed on tubers also pathogenicity test was carried out using seedling of tomato cultivar Gs plants and wilting of tomato plant observed after 10-15 days from injection with R.solanacearum. 3- Concerning D 10 -value determined from the relation between dose rate of gamma ray (k-rad) and log count of bacterial number it was found that the D 10 -value for R.solanacearum was 0.25 kGy

  9. Systematic Review: The Effectiveness of Interventions to Reduce Falls and Improve Balance in Adults With Multiple Sclerosis.

    Science.gov (United States)

    Gunn, Hilary; Markevics, Sophie; Haas, Bernhard; Marsden, Jonathan; Freeman, Jennifer

    2015-10-01

    To evaluate the effectiveness of interventions in reducing falls and/or improving balance as a falls risk in multiple sclerosis (MS). Computer-based and manual searches included the following medical subject heading keywords: "Multiple Sclerosis AND accidental falls" OR "Multiple Sclerosis AND postural balance" OR "Multiple Sclerosis AND exercise" OR "Multiple Sclerosis AND physical/physio therapy" NOT animals. All literature published to November 2014 with available full-text details were included. Studies were reviewed against the PICO (participants, interventions, comparisons, outcomes) selection criteria: P, adults with MS; I, falls management/balance rehabilitation interventions; C, randomized/quasi-randomized studies comparing intervention with usual care or placebo control; O, falls outcomes and measures of balance. Fifteen articles of the original 529 search results were included. Two reviewers independently extracted data and assessed methodological quality using the Cochrane Risk of Bias tool. Random-effects meta-analysis indicated a small decrease in falls risk (risk ratio, .74), although the 95% confidence interval (CI) crossed 1 (95% CI, .12-4.38). The pooled standardized mean difference (SMD) for balance outcomes was .55 (95% CI, .35-.74). SMD varied significantly between exercise subgroupings; gait, balance, and functional training interventions yielded the greatest pooled effect size (ES) (SMD=.82; 95% CI, 0.55-1.10). There was a moderate positive correlation between program volume (min/wk) and ES (Cohen's d) (r=.70, P=.009), and a moderate negative correlation between program duration in weeks and ES (r=-.62, P=.03). Variations in interventions and outcomes and methodological limitations mean that results must be viewed with caution. This review suggests that balance may improve through exercise interventions, but that the magnitude of the improvements achieved in existing programs may not be sufficient to impact falls outcomes. Supporting

  10. Utilization of radiations in mutation breeding of tuber crops

    International Nuclear Information System (INIS)

    Kukimura, H.

    1981-01-01

    Most of the tuber crops are vegetatively propagated and their spontaneous mutations have been constructively utilized to practical farming. Significance of utilization of mutations to breeding should not be overlooked, since mutation can be articially induced by various mutagenic agents. In tuber crops, ionizing radiations are mostly applied to induce mutations. Radiosensitivity varies with species, genotypes and organs. For the purpose of mutation induction, 10-20 kR of gamma-rays is given to tubers and/or shoots in sweet potato and 2-10 kR in potato. It should be noted that radiation damage is more or less transmissible to later vegetative generations. A useful characters in practical agriculture, following mutations have been obtained so far: skin colour, short stemmed, changes in dry matter content, total sugars content and tuber yield, earlier maturity and sculf resistance in sweet potato. And, skin colour, changes in starch content and stolon length, day-neutral tuberization and cyst-nematode resistance in potato. Apart from mutations, radiation can be utilized for breaking down the incompatibility in sweet potato. Promising mutant clones with probable release in Japan are Kyushu 78 of sweet potato and Koniku 16 and Konkei 55 of potato. (author)

  11. NUTRITIONAL AND ANTI-NUTRITIONAL ATTRIBUTES OF SOME UNDER–UTILIZED TUBERS

    Directory of Open Access Journals (Sweden)

    V. Arinathan

    2009-02-01

    Full Text Available The wild edible tubers of Asparagus racemosus, Curculigo orchioides, Dioscorea bulbifera var. vera, Dioscorea oppositifolia var. dukhumensis D. oppositifolia var. oppositifolia, D. pentaphylla var. pentaphylla, D. tomentosa and Dolichos trilobus were analyzed for proximate and mineral composition, starch, vitamins like niacin, ascorbic acids and certain anti-nutritional factors. The tubers of D. oppositifolia var. dukhumensis contained higher quantity of crude protein. The tubers of A. racemosus and Dolichos trilobus contained higher amount of crude lipids. All the investigated wild tubers had a higher level of manganese content compared to ESADDI of infants, children and adults (NRC/NAS, 1989. The tubers of D. oppositifolia var. dukhumensis, D. oppositifolia var.  oppositifolia, D. pentaphylla var. pentaphylla and D. tomentosa were found to contain more starch. The amount of niacin were higher in the tubers of D. tomentosa, D. oppositifolia var.  oppositifolia and A. racemosus Anti-nutritional factors such as total free phenols, tannins and hydrogen cyanide were also analyzed. It was concluded that wild tubers analyzed are a viable food source.

  12. The indirect costs of multiple sclerosis: systematic review and meta-analysis.

    Science.gov (United States)

    Stawowczyk, Ewa; Malinowski, Krzysztof Piotr; Kawalec, Paweł; Moćko, Paweł

    2015-01-01

    The aim of this systematic review is to collect and summarize all current data on the indirect costs related to absenteeism and presenteeism associated with multiple sclerosis. Searches were conducted using Medline, Embase and Centre for Reviews and Dissemination databases. All collected costs were recalculated to average annual cost per patient, expressed in 2014 prices US$ using the consumer price index and purchasing power parity (scenario 1) and expressed as proportion of specific gross domestic product in current local currency unit to adjust for country's development (scenario 2). Identified studies were then analyzed in order to assess their possible inclusion in the meta-analysis. The authors identified 63 records, of which 23 were eligible for meta-analysis. Overall indirect cost per patient calculated in scenario 1 was as high as US$20,167 with US$22,197 in Europe, US$17,382 in North America and US$153 in Asia. Overall indirect cost per patient calculated in scenario 2 was equal to US$16,939, with US$19,612 in Europe, US$11,592 in North America and US$899 in Asia. Overall indirect costs varied from US$3726 for patients with EDSS score less than 3 to US$19,264 for patients with Expanded Disability Status Scale score grater that 7. This review revealed the great economic burden of multiple sclerosis on society. The authors observed a great variety of the considered components of indirect costs and their definitions. Costs were higher for Europe than for other continents and were also higher for patients with a higher Expanded Disability Status Scale score.

  13. Neuropsychology in Multiple Sclerosis: A literature review.

    Directory of Open Access Journals (Sweden)

    Rodneys Mauricio Jiménez Morales

    2011-11-01

    Full Text Available Multiple sclerosis is an inflammatory disease of the central nervous system that is characterized by demyelination and degeneration. The objective of this article is to offer a review of the latest scientific discoveries in the field of neuropsychology in ME. A description is presented of the most frequent neuropsychological manifestations and their probable association with other factors such as: school level, fatigue, disability, cerebral dysfunction, time and clinical form of evolution, as well as depression and other states of mind starting from recent evidences in the scientific community. Also addressed is the development of tests and valid sensitive neuropsychological sets to evaluate cognitive functions. The use of sensitive and specific test facilitates the evaluation of neuropsychological alterations associated to ME, besides other socio-demographic and clinical-evaluative factors to contemplate in the exploration.

  14. Changes of endogenous hormones in irradiated potato tubers

    International Nuclear Information System (INIS)

    Farag, S.E.A.; El-Saeid, H.M.; Abou-Hadid, A.F.

    1992-01-01

    Potato tubers Solatum tuberosum L. cv. Alpha were irradiated with 0.12 kgy and stored at room temperature. The endogenous hormones were extracted and determined using bioassay at dormant, budding and sprouting stages. The studied promoters were IAA, IAN, GA3 and Gibberellin like substances besides the inhibitors which included ABA and B-inhibitors. The results indicated that IAA was more sensitive to irradiation than IAN, GA3 but ABA was more stable than B-inhibitors during the dormancy. Irradiation decreased IAA and Gibberellin like substances and B-inhibitors but no change was observed in ABA content at dormant period. Irradiation caused a balance between promoters inhibitors at the end of tuber storage and after tubers sprouting

  15. Assessing potato tuber diel growth by means of X-ray computed tomography.

    Science.gov (United States)

    Pérez-Torres, Eduardo; Kirchgessner, Norbert; Pfeifer, Johannes; Walter, Achim

    2015-11-01

    The formation and development of belowground organs is difficult to study. X-ray computed tomography (CT) provides the possibility to analyse and interpret subtle volumetric changes of belowground organs such as tubers, storage roots and nodules. Here, we report on the establishment of a method based on a voxel dimension of 240 μm and precision (standard deviation) of 30 μL that allows interpreting growth differences among potato tubers happening within 3 h. Plants were not stressed by the application of X-ray radiation, which was shown both by morphological comparison with control plants and by analysis of lipid peroxidation as a measure of oxidative stress. Diel (24 h) tuber growth fluctuations of three potato genotypes were monitored in soil-filled pots of 10 L. In contrast to the results from previous reports, most tubers grew at similar rates during day and night. Tuber growth was not related to the developmental stage of plants and tubers. Pronounced differences were observed between average growth rates in different tubers within a plant. These results are discussed in the context of restrictions of past methods to study tuber growth and in the context of their potential for the characterization of the formation and development of other belowground plant organs. © 2015 John Wiley & Sons Ltd.

  16. Measurements of potato tubers gamma-ray irradiated in nitrogen gas or carbondioxide gas

    International Nuclear Information System (INIS)

    Katayama, Tadashi; Ohnishi, Tokuhiro; Dohmaru, Takaaki; Kanazawa, Tamotsu; Hiraoka, Eiichi; Furuta, Jun-ichiro.

    1984-01-01

    In this report the respiration of the potato tubers irradiated in nitrogen gas or carbondioxide gas was studied. Potato tubers of common Japanese variety, ''Danshaku'' were used for the examination. Potato tubers of about 2kg were put into each of Triple-Nylon bags and the bags were sealed after replacement of air in bags with nitrogen or carbondioxide gases. More than 16 hours after sealing of bags, the γ-dose ( 60 Co) of 150 Gy or 250 Gy were given to the potato tubers in bags at the dose rate of 10 4 R/h. After irradiation, all bags were opened in air and amounts of CO 2 released by respiration of tubers were measured with Hitachi gas chromatograph analyser Type 023. The amounts of CO 2 released from the potato tubers irradiated in open air is shown in Fig. 2. The results show that there is an initial lag period of several hours, followed by a rapid increase in the respiration, after which the CO 2 release was gradually decreased. Potato tubers irradiated in nitrogen gas show a similar release of CO 2 on time scale to the potato tubers irradiated in open air, but the total amounts of CO 2 are approximately half of those of the potato tubers irradiated in open air (Figs. 3 and 4). (J.P.N.)

  17. Differential diagnosis of disseminated periventricular calcifications

    Energy Technology Data Exchange (ETDEWEB)

    Rieger, P.; Piepgras, U.

    1986-08-01

    Juvenile disseminated periventricular calcifications may occur in tuberous sclerosis, toxoplasmosis, cytomegaly, and in tuberculous meningitis. Cysticercosis, by contrast, does not result in corresponding intracerebral foci until an older age. Differential diagnosis is no problem if clinical findings are typical (tuberous sclerosis) or if serological verification is positive. However, any unclear clinical diagnosis can often be secured by CT.

  18. Sensory quality and appropriateness of raw and boiled Jerusalem artichoke tubers (Helianthus tuberosus L.).

    Science.gov (United States)

    Bach, Vibe; Kidmose, Ulla; Thybo, Anette K; Edelenbos, Merete

    2013-03-30

    The aim of the present study was to investigate the sensory attributes, dry matter and sugar content of five varieties of Jerusalem artichoke tubers and their relation to the appropriateness of the tubers for raw and boiled preparation. Sensory evaluation of raw and boiled Jerusalem artichoke tubers was performed by a trained sensory panel and a semi-trained consumer panel of 49 participants, who also evaluated the appropriateness of the tubers for raw and boiled preparation. The appropriateness of raw Jerusalem artichoke tubers was related to Jerusalem artichoke flavour, green nut flavour, sweetness and colour intensity, whereas the appropriateness of boiled tubers was related to celeriac aroma, sweet aroma, sweetness and colour intensity. In both preparations the variety Dwarf stood out from the others by being the least appropriate tuber. A few sensory attributes can be used as predictors of the appropriateness of Jerusalem artichoke tubers for raw and boiled consumption. Knowledge on the quality of raw and boiled Jerusalem artichoke tubers can be used to inform consumers on the right choice of raw material and thereby increase the consumption of the vegetable. © 2012 Society of Chemical Industry.

  19. Stress and multiple sclerosis: A systematic review considering potential moderating and mediating factors and methods of assessing stress

    Directory of Open Access Journals (Sweden)

    Laia Briones-Buixassa

    2015-11-01

    Full Text Available Research about the effects of stress on multiple sclerosis has yielded contradictory results. This study aims to systematically review the evidence focusing on two possible causes: the role of stress assessment and potential moderating and mediating factors. The Web of Knowledge (MEDLINE and Web of Science, Scopus, and PsycINFO databases were searched for relevant articles published from 1900 through December 2014 using the terms “stress*” AND “multiple sclerosis.” Twenty-three articles were included. Studies focused on the effect of stress on multiple sclerosis onset ( n  = 9 were mostly retrospective, and semi-structured interviews and scales yielded the most consistent associations. Studies focused on multiple sclerosis progression ( n  = 14 were mostly prospective, and self-reported diaries yielded the most consistent results. The most important modifying factors were stressor duration, severity, and frequency; cardiovascular reactivity and heart rate; and social support and escitalopram intake. Future studies should consider the use of prospective design with self-reported evaluations and the study of moderators and mediators related to amount of stress and autonomic nervous system reactivity to determine the effects of stress on multiple sclerosis.

  20. Stress and multiple sclerosis: A systematic review considering potential moderating and mediating factors and methods of assessing stress.

    Science.gov (United States)

    Briones-Buixassa, Laia; Milà, Raimon; Mª Aragonès, Josep; Bufill, Enric; Olaya, Beatriz; Arrufat, Francesc Xavier

    2015-07-01

    Research about the effects of stress on multiple sclerosis has yielded contradictory results. This study aims to systematically review the evidence focusing on two possible causes: the role of stress assessment and potential moderating and mediating factors. The Web of Knowledge (MEDLINE and Web of Science), Scopus, and PsycINFO databases were searched for relevant articles published from 1900 through December 2014 using the terms "stress*" AND "multiple sclerosis." Twenty-three articles were included. Studies focused on the effect of stress on multiple sclerosis onset ( n  = 9) were mostly retrospective, and semi-structured interviews and scales yielded the most consistent associations. Studies focused on multiple sclerosis progression ( n  = 14) were mostly prospective, and self-reported diaries yielded the most consistent results. The most important modifying factors were stressor duration, severity, and frequency; cardiovascular reactivity and heart rate; and social support and escitalopram intake. Future studies should consider the use of prospective design with self-reported evaluations and the study of moderators and mediators related to amount of stress and autonomic nervous system reactivity to determine the effects of stress on multiple sclerosis.

  1. Sensory quality and appropriateness of raw and boiled Jerusalem artichoke tubers (Helianthus tuberosus L.)

    DEFF Research Database (Denmark)

    Bach, Vibe; Kidmose, Ulla; Thybo, Anette

    2013-01-01

    BACKGROUND: The aim of the present study was to investigate the sensory attributes, dry matter and sugar content of five varieties of Jerusalem artichoke tubers and their relation to the appropriateness of the tubers for raw and boiled preparation. RESULTS: Sensory evaluation of raw and boiled...... Jerusalem artichoke tubers was performed by a trained sensory panel and a semi-trained consumer panel of 49 participants, who also evaluated the appropriateness of the tubers for raw and boiled preparation. The appropriateness of raw Jerusalem artichoke tubers was related to Jerusalem artichoke flavour...... attributes can be used as predictors of the appropriateness of Jerusalem artichoke tubers for raw and boiled consumption. Knowledge on the quality of raw and boiled Jerusalem artichoke tubers can be used to inform consumers on the right choice of rawmaterial and thereby increase the consumption...

  2. The Role of Iron and Zinc on Tuber Yield and Yield Components of Potato

    Directory of Open Access Journals (Sweden)

    Elham Jam

    2015-08-01

    Full Text Available The soils of potato production fields in Ardabil due to alkalinity and not having a proper crop rotations are deficient in micronutrients. To evaluate the effect of these micronutrients on the yield and some traits affecting potato tubers an experiment was conducted in a complete randomized block design with three replications in Ardabil during 2012. Micronutrient treatments used were the various concentrations of iron and zinc (0.002, 0.004 and 0.008 concentrations of these elements as Fe1Zn1, Fe1Zn2, Fe1Zn3, Fe2Zn1, Fe2Zn2, Fe2Zn3, Fe3Zn1 and Fe3Zn2 and a control treatment (Fe0Zn0. Analysis of variance of traits under study showed statistically significant differences among treatments in terms of tuber yield, number of tubers per plant, tuber size, skin thickness and volumetric weight and dry weight of tubers. The highest tuber yield (48.10 t.ha-1 and maximum skin thickness were obtained from Fe1Zn3 treatment. The highest tuber number belonged to Fe2Zn1 (0.004 and 0.002 concentrations of iron and zinc and Fe1Zn3 (0.002 and 0.008 concentrations of iron and zinc. Tuber weights higher than 35 grams and higest volumetric tuber weight were produced by using Fe3Zn2. The conclusion is this that using Fe1Zn3 traetment (0.002 and 0.008 concentrations resulted in highest tuber yield and thickness of tuber skin.

  3. Mind-Body Medicine for Multiple Sclerosis: A Systematic Review

    Directory of Open Access Journals (Sweden)

    Angela Senders

    2012-01-01

    Full Text Available Background. Mind-body therapies are used to manage physical and psychological symptoms in many chronic health conditions. Objective. To assess the published evidence for using mind-body techniques for symptom management of multiple sclerosis. Methods. MEDLINE, PsycINFO, and Cochrane Clinical Trials Register were searched from inception to March 24, 2012. Eleven mind-body studies were reviewed (meditation, yoga, biofeedback, hypnosis, relaxation, and imagery. Results. Four high quality trials (yoga, mindfulness, relaxation, and biofeedback were found helpful for a variety of MS symptoms. Conclusions. The evidence for mind-body medicine in MS is limited, yet mind-body therapies are relatively safe and may provide a nonpharmacological benefit for MS symptoms.

  4. Differential diagnosis of disseminated periventricular calcifications

    International Nuclear Information System (INIS)

    Rieger, P.; Piepgras, U.

    1986-01-01

    Juvenile disseminated periventricular calcifications may occur in tuberous sclerosis, toxoplasmosis, cytomegaly, and in tuberculous meningitis. Cysticercosis, by contrast, does not result in corresponding intracerebral foci until an older age. Differential diagnosis is no problem if clinical findings are typical (tuberous sclerosis) or if serological verification is positive. However, any unclear clinical diagnosis can often be secured by CT. (orig.) [de

  5. Improvement of root and tuber crops by induced mutations

    International Nuclear Information System (INIS)

    1987-03-01

    The aim of the FAO/IAEA Co-ordinated Research Programme is to breed cultivars which are more productive, more resistant to diseases and pests and which have better quality. Two Research Co-ordination Meetings in this programme were convened. They reviewed in detail the status and breeding research needs of the major root and tuber crops and other vegetatively propagated corps, viz. cassava, yam, sweet potato, potato and sugar cane. The participants presented their research achievements and difficulties, exchanged information, co-ordinated their future research and made recommendations

  6. Radiographic changes of the distal phalangeal tuft of the hands in subjects with systemic sclerosis. Systematic review.

    Science.gov (United States)

    Izquierdo, Yojhan Edilberto; Calvo Páramo, Enrique; Castañeda, Luisa María; Gómez, Sandra Viviana; Zambrano, Fernán Santiago

    To determine abnormal plain radiograph findings of the distal phalanx tuft of the hand (DPTH) associated with systemic sclerosis in adults. A systematic review was developed following the parameters of the PRISMA guidelines in databases: MEDLINE, EMBASE, BIREME, Scielo, Google Scholar and others including as primary outcomes alterations of DPTH (erosions, resorption, sclerosis and proliferation) detected by simple radiography in subjects with systemic sclerosis. The prevalence of radiographic findings was synthesized using the fixed effects model. The statistical associations were expressed in terms of relative risk or odds ratio with their respective confidence intervals and p values. Twenty-two observational studies were included; the prevalence of DPTH resorption was 28.3% (95% CI: 0.256-0.312; p < .001); I 2 =80.4%, the prevalence of calcinosis was 15.6% (95% CI: 0.113-0.210; p < .001); I 2 =0%. No study reported proliferation or erosions and only one study described sclerosis of DPTH in 5 individuals. Resorption and calcinosis of DPTH are the characteristic radiographic findings in patients with systemic sclerosis. However, new studies with greater methodological strength are needed to establish associations between these phenomena and their presence in other connective tissue diseases. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  7. New management algorithms in multiple sclerosis

    DEFF Research Database (Denmark)

    Sorensen, Per Soelberg

    2014-01-01

    complex. The purpose of the review has been to work out new management algorithms for treatment of relapsing-remitting multiple sclerosis including new oral therapies and therapeutic monoclonal antibodies. RECENT FINDINGS: Recent large placebo-controlled trials in relapsing-remitting multiple sclerosis......PURPOSE OF REVIEW: Our current treatment algorithms include only IFN-β and glatiramer as available first-line disease-modifying drugs and natalizumab and fingolimod as second-line therapies. Today, 10 drugs have been approved in Europe and nine in the United States making the choice of therapy more...

  8. Tuber formation in the wild potato species Solanum demissum Lindl.

    NARCIS (Netherlands)

    Helder, J.

    1994-01-01

    1. How does a potato plant form tubers?

    Potato plants produce sexual multiplication and survival structures, true seeds, and asexual multiplication and survival bodies, tubers. Berries of the potato plant contain a large number of minute seeds. Relatively large

  9. Cereal cystatins delay sprouting and nutrient loss in tubers of potato, Solanum tuberosum.

    Science.gov (United States)

    Munger, Aurélie; Simon, Marie-Aube; Khalf, Moustafa; Goulet, Marie-Claire; Michaud, Dominique

    2015-12-21

    Recent studies have reported agronomically useful ectopic effects for recombinant protease inhibitors expressed in leaves of transgenic plants, including improved tolerance to abiotic stress conditions and partial resistance to necrotrophic pathogens. Here we assessed the effects of these proteins on the post-dormancy sprouting of storage organs, using as a model potato tubers expressing cysteine protease inhibitors of the cystatin protein superfamily. Sprout emergence and distribution, soluble proteins, starch and soluble sugars were monitored in tubers of cereal cystatin-expressing clones stored for several months at 4 °C. Cystatin expression had a strong repressing effect on sprout growth, associated with an apparent loss of apical dominance and an increased number of small buds at the skin surface. Soluble protein content remained high for up to 48 weeks in cystatin-expressing tubers compared to control (untransformed) tubers, likely explained by a significant stabilization of the major storage protein patatin, decreased hydrolysis of the endogenous protease inhibitor multicystatin and low cystatin-sensitive cysteine protease activity in tuber tissue. Starch content decreased after several months in cystatin-expressing tubers but remained higher than in control tubers, unlike sucrose showing a slower accumulation in the transgenics. Plantlet emergence, storage protein processing and height of growing plants showed similar time-course patterns for control and transgenic tubers, except for a systematic delay of 2 or 3 d in the latter group likely due to limited sprout size at sowing. Our data point overall to the onset of metabolic interference effects for cereal cystatins in sprouting potato tubers. They suggest, in practice, the potential of endogenous cysteine proteases as relevant targets for the development of potato varieties with longer storage capabilities.

  10. New North American truffles (Tuber spp.) and their ectomycorrhizal associations

    Science.gov (United States)

    Gonzalo Guevara; Gregory Bonito; James M. Trappe; Efren Cázares; Gwendolyn Williams; Rosanne A. Healy; Christopher Schadt; Rytas. Vigalys

    2013-01-01

    Recent surveys of belowground fungal biodiversity in Mexico and USA have revealed many undescribed truffle species, including many in the genus Tuber. Here we describe seven new species: Tuber beyerlei, T. castilloi, T. guevarai, T. lauryi, T. mexiusanum, T. miquihuanense and T. walkeri. Phylogenetic analyses...

  11. Potato tuber wounding induces responses associated with various healing processes

    Science.gov (United States)

    Wounding induces an avalanche of biological responses involved in the healing and protection of internal tuber tissues exposed by mechanical damage and seed cutting. Collectively, our studies have framed a portrait of the mechanisms and regulation of potato tuber wound-healing, but much more is req...

  12. Test marketing for value-added root and tuber based products in ...

    African Journals Online (AJOL)

    Test marketing for value-added root and tuber based products in Ikwuano local government area ... JE Ewuziem, C Aniedu, E Oti, VO Onyenobi ... root and tuber based products, developed at National Root Crops Research Institute, Umudike.

  13. Primary cardiac tumors associated with genetic syndromes. A comprehensive review

    International Nuclear Information System (INIS)

    Lee, Elizabeth; Agarwal, Prachi P.; Mahani, Maryam Ghadimi; Lu, Jimmy C.; Dorfman, Adam L.; Srinivasan, Ashok

    2018-01-01

    Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management. (orig.)

  14. Primary cardiac tumors associated with genetic syndromes. A comprehensive review

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Elizabeth; Agarwal, Prachi P. [University of Michigan Health System, University Hospital Division of Cardiothoracic Radiology, Department of Radiology, Ann Arbor, MI (United States); Mahani, Maryam Ghadimi [University of Michigan Health System, University Hospital Division of Cardiothoracic Radiology, Department of Radiology, Ann Arbor, MI (United States); University of Michigan Health System, Section of Pediatric Radiology, C.S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); Lu, Jimmy C.; Dorfman, Adam L. [University of Michigan Health System, Section of Pediatric Radiology, C.S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); C.S. Mott Children' s Hospital, University of Michigan Health System, Section of Pediatric Cardiology, Department of Pediatrics, Ann Arbor, MI (United States); Srinivasan, Ashok [University of Michigan Health System, Division of Neuroradiology, Department of Radiology, Ann Arbor, MI (United States)

    2018-02-15

    Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management. (orig.)

  15. Yellow nutsedge (Cyperus esculentus L.) control with herbicides: the role of tuberization

    International Nuclear Information System (INIS)

    Pereira, W.

    1985-01-01

    Trials were carried out under greenhouse, growth chamber, laboratory, outdoor pot, and field conditions to characterize stages of yellow nutsedge tuberization and to investigate the influence of herbicides. The effects of herbicides on tuberization and phytotoxicity at several growth stages, as well as on sprouting, growth characteristics, and survival of new tubers were determined. Tuberization was a continuous process, but was modulated by plant age and environmental conditions. The growth stage that included the time of first tuber initiation was the best for applying glyphosate [N-(phosphonomethyl)glycine] and oxyfluorfen [2-chloro-1-(3-ethoxy-4-nitrophenoxy)-4-(trifluromethyl)benzene]. Plant-age and length of period after spraying influenced glyphosate and oxyfluorfen absorption and translocation. Addition of unlabelled oxyfluorfen as a tank mixture can glyphosate increased absorption of 14 C-glyphosate to 27% after 1 day and 46% after 8 days and increased translocation into other plant parts. Timing of postemergence herbicide applications relative to tuberization is crucial for overall control of yellow nutsedge. When soil applied herbicides were compared in the field, consecutive applications of dichlobenil (2,6-dichlorobenzonitrile) and metolachlor [2-chloro-N-(2-ethyl-6-methylphenyl)-N-(2-methoxy-1-methylethyl)acetamide] for two years provided the best control of nutsedge

  16. Yellow nutsedge (Cyperus esculentus L. ) control with herbicides: the role of tuberization

    Energy Technology Data Exchange (ETDEWEB)

    Pereira, W.

    1985-01-01

    Trials were carried out under greenhouse, growth chamber, laboratory, outdoor pot, and field conditions to characterize stages of yellow nutsedge tuberization and to investigate the influence of herbicides. The effects of herbicides on tuberization and phytotoxicity at several growth stages, as well as on sprouting, growth characteristics, and survival of new tubers were determined. Tuberization was a continuous process, but was modulated by plant age and environmental conditions. The growth stage that included the time of first tuber initiation was the best for applying glyphosate (N-(phosphonomethyl)glycine) and oxyfluorfen (2-chloro-1-(3-ethoxy-4-nitrophenoxy)-4-(trifluromethyl)benzene). Plant-age and length of period after spraying influenced glyphosate and oxyfluorfen absorption and translocation. Addition of unlabelled oxyfluorfen as a tank mixture can glyphosate increased absorption of /sup 14/C-glyphosate to 27% after 1 day and 46% after 8 days and increased translocation into other plant parts. Timing of postemergence herbicide applications relative to tuberization is crucial for overall control of yellow nutsedge. When soil applied herbicides were compared in the field, consecutive applications of dichlobenil (2,6-dichlorobenzonitrile) and metolachlor (2-chloro-N-(2-ethyl-6-methylphenyl)-N-(2-methoxy-1-methylethyl)acetamide) for two years provided the best control of nutsedge.

  17. Betalains in red and yellow varieties of the Andean tuber crop ulluco (Ullucus tuberosus).

    Science.gov (United States)

    Svenson, Johan; Smallfield, Bruce M; Joyce, Nigel I; Sansom, Catherine E; Perry, Nigel B

    2008-09-10

    The betalain pigments in ulluco (Ullucus tuberosus), a tuberous crop native to the Andes, have been investigated for the first time using LC-DAD-ESI-MS-MS(2) analyses. Five red, yellow, and red-spotted accessions introduced into New Zealand as a new food crop plus two red tetraploid lines were investigated. Thirty-two different betalains were identified. Both the yellow and red tubers were rich in yellow betaxanthins, and the most prominent among the 20 identified were histidine-betaxanthin, arginine-betaxanthin and glutamine-betaxanthin. Arginine-betaxanthin has been reported to occur naturally only once before and was found in yellow ulluco but not in the red tubers. Twelve betacyanins were found in red tubers, with roughly 50% of this content being betanin/isobetanin. Betacyanin levels were up to 70 microg/g fresh weight in red tubers, but were below quantifiable levels in yellow tubers. Betaxanthin levels were up to 50 microg/g fresh weight in yellow tubers. Interference by betacyanins in measuring levels of betaxanthins by visible spectrophotometry is discussed. Low concentrations of betalains were detected in leaves, whereas stems contained total levels similar to the tubers, with dopamine-betaxanthin and betanin being the major pigments. This is the first report describing both the betacyanin and betaxanthin patterns in a plant from the Basellaceae family.

  18. [Current description of multiple sclerosis].

    Science.gov (United States)

    Río, Jordi; Montalbán, Xavier

    2014-12-01

    Multiple sclerosis is a multifocal demyelinating disease leading to progressive neurodegeneration caused by an autoimmune response in genetically predisposed individuals. In the last few years, the knowledge and management of this disease has been revolutionized by a series of findings. The present article reviews pathological features of the disease, in which cortical involvement is increasingly implicated, and aspects related to novel pathogenic mechanisms, such as the role of the microbiota in the genesis of multiple sclerosis, as well as recent contributions from the fields of epidemiology and genetics. Also reviewed are the latest diagnostic criteria, which currently allow a much earlier diagnosis, with clear therapeutic implications. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  19. Bioremediation of engine-oil polluted soil by Pleurotus tuber-regium ...

    African Journals Online (AJOL)

    White-rot fungi have been used in various parts of the world for bioremediation of polluted sites. Pleurotus tuber-regium was noted to have the ability to increase nutrient contents in soils polluted with 1 - 40% engine-oil concentration after six months of incubation. P. tuber-regium increased organic matter, carbon and ...

  20. Bilateral Renal Angiomyolipomas with Invasion of the Renal Vein: A Case Report

    Directory of Open Access Journals (Sweden)

    C. Blick

    2008-01-01

    Full Text Available An angiomyolipoma (AML is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex. Only in a few isolated cases have features of malignancy been associated with an AML. We present a unique case of bilateral AMLs mimicking invasive tumours in the absence of any other features of tuberous sclerosis complex.

  1. Laparoscopic cryoablation of angiomyolipomas in adolescents and young adults: A report of four cases associated with tuberous sclerosis and 1 case of sporadic origin.

    Science.gov (United States)

    Trelborg, Karina; Nielsen, Tommy Kjærgaard; Østraat, Ernst Øyvind; Olsen, Lars Henning

    2016-12-01

    Renal angiomyolipomas (AMLs) can be of sporadic origin or associated with tuberous sclerosis (TS). TS-associated AMLs often present in childhood, tend to be bilateral and multiple, and often exhibit a faster growth rate with an increased risk of hemorrhage. Renal cryoablation is well described in adults, whereas experiences with adolescents and young adults are limited. We present here for the first time a series of renal AMLs within adolescents and young adults treated with laparoscopic assisted cryoablation (LCA). The aim was to evaluate whether LCA of AMLs in adolescents and young adults is a safe and feasible treatment modality. From October 2009 to September 2013 a total of five patients at our institution were diagnosed with AMLs requiring treatment. Four patients had TS and one had AML of sporadic origin, all five patients underwent LCA. Data were retrospectively collected by a systematic review of patient material and reassessment of renal imaging. The median age was 16 years (range 13-27 years). Eight AMLs with a median size of 3.9 cm (range 2.1-7.7 cm) were treated in five patients because of tumor size and rapid growth. Follow-up was a median 37 months (range 20-62 months), and all tumors showed a reduction in tumor size, and no regrowth was recognized (see summary table). The procedure was well tolerated, with only few perioperative complications and no postoperative complications. When considering the indication for treating AMLs, the origin (sporadic or TS associated) and size of the tumor are the decisive factors. To preserve renal function and prevent spontaneous hemorrhage caution should be intensified when tumors reach 4 cm, particularly if TS is present. After the diagnosis is established, patients should be monitored with renal imaging at regular intervals to identify rapid-growing tumors. As an alternative to current treatment modalities such as partial nephrectomy and super selective angioembolization, cryoablation is an emerging approach

  2. Tuber Storage Proteins

    OpenAIRE

    SHEWRY, PETER R.

    2003-01-01

    A wide range of plants are grown for their edible tubers, but five species together account for almost 90 % of the total world production. These are potato (Solanum tuberosum), cassava (Manihot esculenta), sweet potato (Ipomoea batatus), yams (Dioscorea spp.) and taro (Colocasia, Cyrtosperma and Xanthosoma spp.). All of these, except cassava, contain groups of storage proteins, but these differ in the biological properties and evolutionary relationships. Thus, patatin from potato exhibits act...

  3. In vivo thermoterapy: attempt to eliminate virus in potato tuber

    Science.gov (United States)

    Ayu Astarini, Ida; Margareth, Deborah; Temaja, I. Gede Rai Maya

    2018-03-01

    Potato is one of an important vegetable crop in Indonesia, including Bali. Main potato production areas in Bali are at Bedugul region, 1.200 m above sea level. Potato production in Bali continued to decrease due to diseases infection, such as early blight, late blight, black leg and virus diseases. Potato farmers in Bali usually set aside their harvest as seed potatoes, resulting in virus diseases being carried out on the next planting seasons and eventually would decrease potato production both in quantity and quality. Four types of virus were confirmed: PVY, PVX, PVS and PRLV. A number of studies have reported thermotherapy technique has been employed to eliminate potato virus in vitro. However, this technique is not readily available for farmers, since there is no established tissue culture laboratory to support. Therefore, there is an urgent need to develop a more practical method. The objective of this study was to eliminate virus on seed potatoes using thermotherapy on tuber. Seed potatoes with 1 cm sprout which were virus positive were placed on sterile charred rice paddy husk, and then put into a humidified incubator. Tubers were exposed to 37°C for four days followed by 34°C for three days alternately for two weeks and three weeks duration. Four tubers received heat exposure regime for each virus type. After thermotherapy, potato tubers were transferred to pots containing charred rice paddy husk and maintain for three weeks until new leaves emerge for virus analyses. Results show that seed tubers experienced delayed growth after thermotherapy. Control plants sprout one week after thermotherapy, while treated plants were not yet sprouting. Experiment is currently underway. It is expected that heat treatment on tuber will give a practical method for farmers to eliminate virus of seed potatoes.

  4. Bioremediation of engine-oil polluted soil by Pleurotus tuber-regium ...

    African Journals Online (AJOL)

    SERVER

    2008-01-04

    Jan 4, 2008 ... White-rot fungi have been used in various parts of the world for bioremediation of polluted sites. Pleurotus tuber-regium was noted to have the ability to increase nutrient contents in soils polluted with. 1 - 40% engine-oil concentration after six months of incubation. P. tuber-regium increased organic matter ...

  5. [Current therapy of multiple sclerosis].

    Science.gov (United States)

    Antonio García Merino, J

    2014-12-01

    Since the introduction of interferon beta 1 b for the treatment of multiple sclerosis, there has been a progressive increase in the number of drugs available for this disease. Currently, 11 drugs have been approved in Spain, and their indications depend on specific clinical characteristics. The present article reviews these indications and also discusses other medications without official approval that have also been used in multiple sclerosis. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  6. Silencing of beta-carotene hydroxylase increases total carotenoid and beta-carotene levels in potato tubers

    Directory of Open Access Journals (Sweden)

    Pizzichini Daniele

    2007-03-01

    Full Text Available Abstract Background Beta-carotene is the main dietary precursor of vitamin A. Potato tubers contain low levels of carotenoids, composed mainly of the xanthophylls lutein (in the beta-epsilon branch and violaxanthin (in the beta-beta branch. None of these carotenoids have provitamin A activity. We have previously shown that tuber-specific silencing of the first step in the epsilon-beta branch, LCY-e, redirects metabolic flux towards beta-beta carotenoids, increases total carotenoids up to 2.5-fold and beta-carotene up to 14-fold. Results In this work, we silenced the non-heme beta-carotene hydroxylases CHY1 and CHY2 in the tuber. Real Time RT-PCR measurements confirmed the tuber-specific silencing of both genes . CHY silenced tubers showed more dramatic changes in carotenoid content than LCY-e silenced tubers, with beta-carotene increasing up to 38-fold and total carotenoids up to 4.5-fold. These changes were accompanied by a decrease in the immediate product of beta-carotene hydroxylation, zeaxanthin, but not of the downstream xanthophylls, viola- and neoxanthin. Changes in endogenous gene expression were extensive and partially overlapping with those of LCY-e silenced tubers: CrtISO, LCY-b and ZEP were induced in both cases, indicating that they may respond to the balance between individual carotenoid species. Conclusion Together with epsilon-cyclization of lycopene, beta-carotene hydroxylation is another regulatory step in potato tuber carotenogenesis. The data are consistent with a prevalent role of CHY2, which is highly expressed in tubers, in the control of this step. Combination of different engineering strategies holds good promise for the manipulation of tuber carotenoid content.

  7. Efficacy of aquatic therapy for multiple sclerosis: a systematic review.

    Science.gov (United States)

    Corvillo, Iluminada; Varela, Enrique; Armijo, Francisco; Alvarez-Badillo, Antonio; Armijo, Onica; Maraver, Francisco

    2017-12-01

    Multiple sclerosis (MS) is a chronic, inflammatory, progressive, disabling autoimmune disease affecting the central nervous system. Symptoms and signs of MS vary widely and patients may lose their ability to walk. To date the benefits of aquatic therapy often used for rehabilitation in MS patients have not been reviewed. The aim of this study was to systematically review the current state of aquatic treatment for persons with MS (hydrotherapy, aquatic therapy, aquatic exercises, spa therapy) and to evaluate the scientific evidence supporting the benefits of this therapeutic option. The databases PubMed, Scopus, WoS and PEDro were searched to identify relevant reports published from January 1, 2011 to April 30, 2016. Of 306 articles identified, only 10 fulfilled the inclusion criteria: 5 randomized controlled, 2 simple randomized quasi-experimental, 1 semi-experimental, 1 blind controlled pilot and 1 pilot. Evidence that aquatic treatment improves quality of life in affected patients was very good in two studies, good in four, fair in two and weak in two.

  8. Dynamic transcriptional profiling provides insights into tuberous root development in Rehmannia glutinosa

    Directory of Open Access Journals (Sweden)

    Peng eSun

    2015-06-01

    Full Text Available Rehmannia glutinosa, a herb of the Scrophulariaceae family, is widely cultivated in the Northern part of China. The tuberous root has well known medicinal properties; however, yield and quality are threatened by abiotic and biotic stresses. Understanding the molecular process of tuberous root development may help identify novel targets for its control. In the present study, we used Illumina sequencing and de novo assembly strategies to obtain a reference transcriptome that is relevant to tuberous root development. We then conducted RNA-seq quantification analysis to determine gene expression profiles of the adventitious root (AR, thickening adventitious root (TAR, and the developing tuberous root (DTR. Expression profiling identified a total of 6,974 differentially expressed unigenes during root developmental. Bioinformatics analysis and gene expression profiling revealed changes in phenylpropanoid biosynthesis, starch and sucrose metabolism, and plant hormone biosynthesis during root development. Moreover, we identified and allocated putative functions to the genes involved in tuberous root development, including genes related to major carbohydrate metabolism, hormone metabolism, and transcription regulation. The present study provides the initial description of gene expression profiles of AR, TAR, and DTR, which facilitates identification of genes of interest. Moreover, our work provides insights into the molecular mechanisms underlying tuberous root development and may assist in the design and development of improved breeding schemes for different R. glutinosa varieties through genetic manipulation.

  9. Assessing digestibility of Hadza tubers using a dynamic in-vitro model

    NARCIS (Netherlands)

    Schnorr, S.L.; Crittenden, A.N.; Venema, K.; Marlowe, F.W.; Henry, A.G.

    2015-01-01

    Objectives Bioaccessibility is a useful measure for assessing the biological value of a particular nutrient from food, especially foods such as tubers. The wild tubers exploited by Hadza foragers in Tanzania are of interest because they are nontoxic, consumed raw or briefly roasted, and entail

  10. Asada-Halliwell pathway maintains redox status in Dioscorea alata tuber which helps in germination.

    Science.gov (United States)

    Sharma, Shruti; Sehrawat, Ankita; Deswal, Renu

    2016-09-01

    Reactive Oxygen Species (ROS) are important regulatory molecules governing physiological processes. In the present study a biochemical and proteome level comparison of two contrasting growth stages of Dioscorea alata tuber namely germinating and mature tuber was performed in order to understand the tuber physiology and biochemistry. Existence of all the component enzymes [APx (ascorbate peroxidase), GR (glutathione reductase), DHAR (dehydroascorbate reductase), MDHAR (mono-dehydroascorbate reductase)] and major products [ascorbate (ASC) and glutathione (GSH)] of the cycle showed an operational Asada-Halliwell cycle in the tuber. A 2.65 fold increase in ASC content & a 3.8 fold increase in GR activity fortified the redox milieu during germination. In contrast a 5 fold higher H2O2 content (due to 3.08 fold lower APx activity) and accumulation of reactive nitrogen species (RNS) such as nitric oxide (NO, 2.4-fold) and S-nitrosothiol (SNO, 2.08 fold) contributed to overall oxidative conditions in the mature tuber. The carbonic anhydrase (CA, 7.5 fold), DHAR (5.31 fold) and MDHAR (7 fold) activities were higher in the germinating tuber in comparison with the mature tuber. GSNO negatively regulated the CA (3.6 & 3.95 fold), MDHAR (7.5 & 1.5 fold) and APx (2.3 & 1.81 fold) while another NO donor, CysNO negatively regulated the DHAR (2.24 & 1.32 fold) activity in the mature and germinating stages respectively indicating again that the lesser inhibition by NO (via nitrosylation) may be because of overall reducing environment in the germinating tuber. Increased SNO leading to S-nitrosylation of dioscorin was confirmed by Biotin switch assay. This is the first report showing dioscorin nitrosylation. The present analysis showed differential redox regulation and also suggests the physiological relevance of CA, DHAR, MDHAR, APx & GR in tuber germination for the first time. These enzymes may be used as potential markers of tuber germination in future. Copyright © 2016 Elsevier

  11. Hippocampal Sclerosis in Older Patients

    Science.gov (United States)

    Cykowski, Matthew D.; Powell, Suzanne Z.; Schulz, Paul E.; Takei, Hidehiro; Rivera, Andreana L.; Jackson, Robert E.; Roman, Gustavo; Jicha, Gregory A.; Nelson, Peter T.

    2018-01-01

    Context Autopsy studies of the older population (≥65 years of age), and particularly of the “oldest-old” (≥85 years of age), have identified a significant proportion (~20%) of cognitively impaired patients in which hippocampal sclerosis is the major substrate of an amnestic syndrome. Hippocampal sclerosis may also be comorbid with frontotemporal lobar degeneration, Alzheimer disease, and Lewy body disease. Until recently, the terms hippocampal sclerosis of aging or hippocampal sclerosis dementia were applied in this context. Recent discoveries have prompted a conceptual expansion of hippocampal sclerosis of aging because (1) cellular inclusions of TAR DNA-binding protein 43 kDa (TDP-43) are frequent; (2) TDP-43 pathology may be found outside hippocampus; and (3) brain arteriolosclerosis is a common, possibly pathogenic, component. Objective To aid pathologists with recent recommendations for diagnoses of common neuropathologies in older persons, particularly hippocampal sclerosis, and highlight the recent shift in diagnostic terminology from HS-aging to cerebral age-related TDP-43 with sclerosis (CARTS). Data Sources Peer-reviewed literature and 5 autopsy examples that illustrate common age-related neuropathologies, including CARTS, and emphasize the importance of distinguishing CARTS from late-onset frontotemporal lobar degeneration with TDP-43 pathology and from advanced Alzheimer disease with TDP-43 pathology. Conclusions In advanced old age, the substrates of cognitive impairment are often multifactorial. This article demonstrates common and frequently comorbid neuropathologic substrates of cognitive impairment in the older population, including CARTS, to aid those practicing in this area of pathology. PMID:28467211

  12. Sugar yield and composition of tubers from Jerusalem Artichoke (Helianthus tuberosus) irrigated with saline waters.

    Science.gov (United States)

    Bhagia, Samarthya; Ferreira, Jorge F S; Kothari, Ninad; Nunez, Angelica; Liu, Xuan; da Silva Dias, Nildo; Suarez, Donald L; Kumar, Rajeev; Wyman, Charles E

    2018-06-01

    Currently, major biofuel crops are also food crops that demand fertile soils and good-quality water. Jerusalem artichoke (Helianthus tuberosus, Asteraceae) produces high tonnage of tubers that are rich in sugars, mainly in the form of inulin. In this study, plants of the cultivar "White Fuseau" grown under five salinity levels were evaluated for tuber yield. Results indicated that this cultivar is moderately salt-tolerant if the goal is tuber production. Hydraulic pressings of the tubers produced juice that contained 15% (wet weight) or 55% (dry weight) free sugars, with 70% of these in the form of inulin and the rest as fructose, sucrose, and glucose. Importantly, salinity did not affect the total free sugar or inulin content of the tubers. Tubers were composed of about 12% dry washed bagasse (wet weight) or 44% (dry matter basis) and bagasse retained such high quantities of free sugars after pressing that washing was required for complete sugar recovery. Chemical composition analysis of tuber bagasse suggested that it had low lignin content (11-13 wt%), and its structural sugar composition was similar to chicory root bagasse. Because of the high hemicellulose and pectin content of the bagasse, adding xylanase and pectinase to cellulase substantially improved sugar yields from enzymatic hydrolysis compared to at the same protein loading as cellulase alone. In addition to the high total sugar yield of tuber, these first findings on the sugar and lignin content and enzymatic hydrolysis of tuber bagasse can lead to low-cost production of ethanol for transportation fuels. © 2018 Wiley Periodicals, Inc.

  13. Haemorrhage in intracranial tuber- culosis

    African Journals Online (AJOL)

    CASE REPORT. 16. SA JOURNAL OF RADIOLOGY • July 2005. Haemorrhage in intracranial tuber- culosis. M Modi. FCRad (SA), MMed. Department of Radiation Sciences ... wall where granulomatous inflamma- tion (Fig. 2, arrow) was present in the adventitia. A specific site of origin for the subarachnoid haemorrhage was.

  14. Some cytologic aspects of ionizing radaiation and electron treatment effect of potatoes tubers

    International Nuclear Information System (INIS)

    Totadze, L.Eh.; Svanidze, S.S.

    1982-01-01

    Effect of ionizing radiation and electron treatment on the microstructure of potatoe tubers of the Majestic sort has been studied. The potatoe is subjected to alternating current and Co 60 gamma-radiation treatment (with the doses 5000 rad, 10000, 15000, 20000, 25000 and 30000 rad). A supposition is made that the pass of alternating current at the voltage of 60 V, current intensity 1 mA and the exposure of 5 min through potatoe tuber causes certain cytoplasmatic changes in somatic cells manifested in the increase of tuber rest period. During potatoe tuber treatment with Co 60 γ-radiation a direct correlation between irradiation doses and degradation of somatic cells is observed

  15. The role of the potato (Solanum tuberosum) CCD8 gene in stolon and tuber development.

    Science.gov (United States)

    Pasare, Stefania A; Ducreux, Laurence J M; Morris, Wayne L; Campbell, Raymond; Sharma, Sanjeev K; Roumeliotis, Efstathios; Kohlen, Wouter; van der Krol, Sander; Bramley, Peter M; Roberts, Alison G; Fraser, Paul D; Taylor, Mark A

    2013-06-01

    · Strigolactones (SLs) are a class of phytohormones controlling shoot branching. In potato (Solanum tuberosum), tubers develop from underground stolons, diageotropic stems which originate from basal stem nodes. As the degree of stolon branching influences the number and size distribution of tubers, it was considered timely to investigate the effects of SL production on potato development and tuber life cycle. · Transgenic potato plants were generated in which the CAROTENOID CLEAVAGE DIOXYGENASE8 (CCD8) gene, key in the SL biosynthetic pathway, was silenced by RNA interference (RNAi). · The resulting CCD8-RNAi potato plants showed significantly more lateral and main branches than control plants, reduced stolon formation, together with a dwarfing phenotype and a lack of flowering in the most severely affected lines. New tubers were formed from sessile buds of the mother tubers. The apical buds of newly formed transgenic tubers grew out as shoots when exposed to light. In addition, we found that CCD8 transcript levels were rapidly downregulated in tuber buds by the application of sprout-inducing treatments. · These results suggest that SLs could have an effect, solely or in combination with other phytohormones, in the morphology of potato plants and also in controlling stolon development and maintaining tuber dormancy. © 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.

  16. Study of the system of tuberous root induction in vitro from ...

    African Journals Online (AJOL)

    Abstract. This study investigated the induction system of tuberous root in vitro from Rehmannia glutinosa. The roles of plant growth substance, carbohydrates, and minerals were evaluated for induction and development of tuberous root in vitro. The results show that Murashige and Skoog (MS) contributed greatly to induction ...

  17. Test results of the experimental laser device for potato tubers radiation treatment

    International Nuclear Information System (INIS)

    Anufrik, S.S.; Korzun, O.S.

    2007-01-01

    Results of 3 year investigation of the influence of the presowing low intensity laser radiation treatment of potato (Solanum tuberosum L.) tubers with the help of laser device with various spectral composition and exposition on plant growth, development and productivity and potato tubers quality and starch content in the conditions of the Republic of Belarus were presented. Presowing tubers treatment of potato cultivars Sante, Yavar and Arkhideya was realized by He-Ne, Ar-, Cu (in course of 3 and 5 minutes) and CO2 (in course of 5 seconds) lasers. Research results have shown that presowing treatment with CO2 laser promoted the higher (on 1,7-6,6%) potato germination capacity in comparison with the control variant without radiation treatment. Height of potato plants of Sante variety after radiation treatment fell behind the control ones. Haulm quantity per one plant and yield quality did not depend on radiation treatment Treatment with CO2 laser exercised the stimulatory action on productivity of Sante variety without changing the starch content in tubers. Tuber weight increased up to 0,4 kg (0,2 kg in the control variant). Similar effect for Arkhideya and Yavar varieties was obtained after Cu-laser treatment in course of 5 minutes. Radiation treatment with He-Ne laser caused the increased starch accumulation (on 0,4-0,6% in comparison with the control variant) in potato tubers of all studied varieties

  18. Vision and vision-related outcome measures in multiple sclerosis

    Science.gov (United States)

    Balcer, Laura J.; Miller, David H.; Reingold, Stephen C.

    2015-01-01

    Visual impairment is a key manifestation of multiple sclerosis. Acute optic neuritis is a common, often presenting manifestation, but visual deficits and structural loss of retinal axonal and neuronal integrity can occur even without a history of optic neuritis. Interest in vision in multiple sclerosis is growing, partially in response to the development of sensitive visual function tests, structural markers such as optical coherence tomography and magnetic resonance imaging, and quality of life measures that give clinical meaning to the structure-function correlations that are unique to the afferent visual pathway. Abnormal eye movements also are common in multiple sclerosis, but quantitative assessment methods that can be applied in practice and clinical trials are not readily available. We summarize here a comprehensive literature search and the discussion at a recent international meeting of investigators involved in the development and study of visual outcomes in multiple sclerosis, which had, as its overriding goals, to review the state of the field and identify areas for future research. We review data and principles to help us understand the importance of vision as a model for outcomes assessment in clinical practice and therapeutic trials in multiple sclerosis. PMID:25433914

  19. Potato tuber pectin structure is influenced by pectin methyl esterase activity and impacts on cooked potato texture.

    Science.gov (United States)

    Ross, Heather A; Wright, Kathryn M; McDougall, Gordon J; Roberts, Alison G; Chapman, Sean N; Morris, Wayne L; Hancock, Robert D; Stewart, Derek; Tucker, Gregory A; James, Euan K; Taylor, Mark A

    2011-01-01

    Although cooked potato tuber texture is an important trait that influences consumer preference, a detailed understanding of tuber textural properties at the molecular level is lacking. Previous work has identified tuber pectin methyl esterase activity (PME) as a potential factor impacting on textural properties. In this study, tuber PME isoform and gene expression profiles have been determined in potato germplasm with differing textural properties as assessed using an amended wedge fracture method and a sloughing assay, revealing major differences between the potato types. Differences in pectin structure between potato types with different textural properties were revealed using monoclonal antibodies specific for different pectic epitopes. Chemical analysis of tuber pectin clearly demonstrated that, in tubers containing a higher level of total PME activity, there was a reduced degree of methylation of cell wall pectin and consistently higher peak force and work done values during the fracture of cooked tuber samples, demonstrating the link between PME activity, the degree of methylation of cell wall pectin, and cooked tuber textural properties.

  20. CARBOHYDRATES CONTENT IN JERUSALEM ARTICHOKE TUBERS DURING VEGETATION

    Directory of Open Access Journals (Sweden)

    N. S. Levina

    2017-01-01

    Full Text Available Jerusalem artichoke (Helianthus tuberosus L. is rich in vitamins, carbohydrates, fiber. Tubers of Jerusalem artichoke consist valuable  substance inulin, which has a complex of health properties. Breeders create new hybrids and varieties of Jerusalem artichoke to increase the content of nutrients, productivity and climate resilience. The authors analysed moisture content, dry residue and fractional  composition of carbohydrates in the tubers of Jerusalem artichoke  varieties Skorospelka and Sireniki and the hybrids PBB and PBK in  various phases of vegetation. In the flowering stage the moisture of  the tubers of the investigated varieties was in the range of 77.2-81.3 percent, the value of dry residue of nutrients was 18.7-22.8 percent. The greatest number of non-reducing and total sugars in  the flowering stage contained in the tuber varieties of Sireniki and was equaled 78.3 and 61.8 percent, respectively. A similar analysis was conducted in the maturation phase. In this phase the solids  content slightly increased and amounted to 22.9-26.2 percent. Non- reducing sugars content, including inulin, increased in all the studied samples of Jerusalem artichoke. However, the greatest values of 72  percent were noted for variety Sireniki and hybrid PBK. The content  of inulin depends on the phase of the growing season and the  varietal characteristics of Jerusalem artichoke and the absence of decisive superiority of the hybrids.

  1. Exercise echocardiography for the assessment of pulmonary hypertension in systemic sclerosis: a systematic review.

    Science.gov (United States)

    Baptista, Rui; Serra, Sara; Martins, Rui; Teixeira, Rogério; Castro, Graça; Salvador, Maria João; Pereira da Silva, José António; Santos, Lèlita; Monteiro, Pedro; Pêgo, Mariano

    2016-07-02

    Pulmonary arterial hypertension (PAH) complicates the course of systemic sclerosis (SSc) and is associated with poor prognosis. The elevation of systolic pulmonary arterial pressure (sPAP) during exercise in patients with SSc with normal resting haemodynamics may anticipate the development of PAH. Exercise echocardiography (ExEcho) has been proposed as a useful technique to identify exercise-induced increases in sPAP, but it is unclear how to clinically interpret these findings. In this systematic review, we summarize the available evidence on the role of exercise echocardiography to estimate exercise-induced elevations in pulmonary and left heart filling pressures in patients with systemic sclerosis. We conducted a systematic review of the literature using MEDLINE, Cochrane Library and Web of Knowledge, using the vocabulary terms: ('systemic sclerosis' OR 'scleroderma') AND ('exercise echocardiography') AND ('pulmonary hypertension'). Studies including patients with SSc without a prior diagnosis of PAH, and subjected to exercise echocardiography were included. All searches were limited to English and were augmented by review of bibliographic references from the included studies. The quality of evidence was assessed by the Effective Public Health Practice Project system. We identified 15 studies enrolling 1242 patients, who were mostly middle-aged and female. Several exercise methods were used (cycloergometer, treadmill and Master's two step), with different protocols and positions (supine, semi-supine, upright); definition of a positive test also varied widely. Resting estimated sPAP levels varied from 18 to 35 mm Hg, all in the normal range. The weighted means for estimated sPAP were 22.2 ± 2.9 mmHg at rest and 43.0 ± 4.3 mmHg on exercise; more than half of the studies reported mean exercise sPAP ≥40 mmHg. The assessment of left ventricular diastolic function on peak exercise was reported in a minority of studies; however, when assessed, surrogate

  2. One year in review 2017: systemic sclerosis.

    Science.gov (United States)

    Barsotti, Simone; Bruni, Cosimo; Orlandi, Martina; Della Rossa, Alessandra; Marasco, Emiliano; Codullo, Veronica; Guiducci, Serena

    2017-01-01

    Systemic sclerosis is a rare acquired systemic disease characterised by heterogeneous evolution and outcome. Each year novel insights into the pathogenesis, diagnosis and treatment of this severe disease have been published. We herewith provide our overview of the most significant literature contributions published over the last year.

  3. Physical Telerehabilitation in Patients with Multiple Sclerosis with Significant Mobility Impairment

    Science.gov (United States)

    2017-10-01

    Award Number: W81XWH-16-1-0704 TITLE: Physical Telerehabilitation in Patients with Multiple Sclerosis with Significant Mobility Impairment...including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing ...29 Sep 2017 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Physical Telerehabilitation in Patients with Multiple Sclerosis with Significant Mobility

  4. Tuberous root characteristics of sweet potato clones using multivariate techniques for selection of superior genotypes

    Directory of Open Access Journals (Sweden)

    Jackson da Silva

    2018-01-01

    Full Text Available The objective of this study was to evaluate the tuberous root characteristics of sweet potato clones using multivariate techniques for selection of superior genotypes, the present research was carried out in the Experimental area of the Plant Genetic Breeding Sector of the Agrarian Sciences Center of the Federal University of Alagoas (SMGP/CECA/UFAL. Were evaluated 44 new clones originated from progenies of half-siblings and germanic siblings, in addition to the cultivar Sergipana Vermelha, in lines of 5 m in length, spacing 1.0 mx 0.5 m, totaling a total area of 5 m²/clone. The harvest was done at 120 days after planting the branches, in which the production of non-commercial tuberous roots (PRTNC was evaluated, production of commercial tuberous roots (PRTC, production of tuberous roots (PTRT, total number of tuberous roots (NTRT, average weight of commercial tuberous roots (PMRTC, predominant color of tuberous root skin (CPPERT and predominant color of the tuberosal root pulp (CPPORT. Descriptive statistics, correlation technique and principal component analysis were used. It was observed that clones 23, 36, 17 and 37 presented interesting agronomic characteristics, being recommended for the cultivation and in the analysis of main components, the variables PTRT and PRTC presented greater importance, reflecting that they discriminate the clones satisfactorily.

  5. Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma ? Single Centre Experience

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana

    2017-01-01

    BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear co...

  6. Method for extraction and amplification of DNA from seeds and tubers

    African Journals Online (AJOL)

    Computer Department

    2013-04-10

    Apr 10, 2013 ... from 100 mg tissue) of high quality from seeds of maize, soybean, and cowpea, tubers of yam, tuberous ... designed to fix and store nucleic acids directly from fresh tissues pressed into ... thermal cycle conditions for PCR using various primer sets are given in .... The protocol does not use liquid nitrogen and.

  7. Supplemental calcium nutrition improves tuber yield and quality of native potatoes in the Peruvian highlands

    Science.gov (United States)

    Potato tubers are known to be calcium deficient. This is because calcium moves with water and most water is transported to leaves and tubers being in soil do not have the draw for water and calcium. Calcium fertilizers are now routinely used to improve tuber quality and production in the US. Potatoe...

  8. Detection, identification and differentiation of Pectobacterium and Dickeya species causing potato blackleg and tuber soft rot: a review

    NARCIS (Netherlands)

    Czajkowski, R.L.; Pérombelon, M.C.M.; Jafra, S.; Lojkowska, E.; Potrykus, M.; Wolf, van der J.M.; Sledz, W.

    2015-01-01

    The soft rot Enterobacteriaceae (SRE) Pectobacterium and Dickeya species (formerly classified as pectinolytic Erwinia spp.) cause important diseases on potato and other arable and horticultural crops. They may affect the growing potato plant causing blackleg and are responsible for tuber soft rot in

  9. Examining the role of tuber biochemistry in the development of zebra chip in stored potato tubers

    Science.gov (United States)

    Zebra chip disease (ZC), associated with infection by the bacterium ‘Candidatus Liberibacter solanacearum’ (Lso), is an emerging problem for potato growers in the United States, Mexico, and New Zealand. Although potato tubers exhibiting ZC symptoms will be rejected by processors, it remains possible...

  10. Shelf-life extension of fresh Tuber aestivum and Tuber melanosporum truffles by modified atmosphere packaging with microperforated films.

    Science.gov (United States)

    Rivera, Carmen Susana; Blanco, Domingo; Salvador, María Luisa; Venturini, María Eugenia

    2010-05-01

    The aim of this study was to design a modified atmosphere packaging suitable for Tuber melanosporum and Tuber aestivum truffles that extend their shelf life and their availability as a fresh product. Their respiration rates were determined by O(2) depletion and CO(2) formation in closed systems performed at different temperatures: 4, 10, and 23 degrees C. The results were fitted by exponential equations and derivatives of these equations were used to obtain the experimental respiration rates. Our results revealed high respiration rates in both species of truffles and respiratory quotients (RQ) higher than 1 in all the cases studied. A linear dependence of respiration rate, both R(O2) and R(CO2), on O(2) concentration was revealed. A mathematical model was used to predict the evolution of the gaseous composition at 4 degrees C in the interior of polypropylene trays (250 mL) heat sealed with 4 microperforated films of different transmission rates. A microperforated film with 2 holes (90 x 50 microm) was selected to produce an internal atmosphere of 15%CO(2)/7%O(2) at 4 degrees C. The predicted atmosphere composition was confirmed by the experimental results. The quality and microbiological characteristics of fresh truffles, packaged in these conditions, revealed that the microbial counts of pseudomonads and Enterobacteriaceae were decreased, the weight loss was reduced, the typical hard texture was maintained, and the development of mycelium growth was delayed, enabling good scores for aroma and flavor, and therefore prolonging the shelf life of T. melanosporum and T. aestivum truffles to 28 and 21 d, respectively. Practical Application: This study describes the benefits of using MAP with microperforated films in the postharvest storage of Tuber melanosporum and Tuber aestivum fresh truffles. The shelf life of T. aestivum is prolonged to 21 d and of T. melanosporum to beyond 28 d increasing the possibilities for a foreign market.

  11. Evaluation of Hail Simulated Damage on Marketable Tuber Yield of Potato Agria Cultivar in Ardabil Region

    Directory of Open Access Journals (Sweden)

    D. Hassanpanah

    2012-07-01

    Full Text Available This study was conducted at Ardabil Agriculture and Natural Resources Research Station during the year of 2010. A factorial experiment based on randomized complete block design with four replications and two factors were used to evaluate the effect of simulated hail damage to foliage at different growth stages of potato Agria cultivar on marketable tuber yield. The first factor consisted of six levels of foliar damage (0, 20, 40, 60, 80 and 100 percent and the second factor of five levels of plant growth stages (2, 5, 8, 11 and 15 weeks after the growing. Analysis of variance showed that there were significant differences among plants for levels and times of hail damage and their interactions in terms of marketable tuber yield. Percentage of marketable yield reduction at early stages of vegetative growth (2 weeks after growing was minimal. Occurrence of hail damage at the tuberization and bulking stages (5, 8 and 11 weeks after growing severely reduced marketable tuber yield. While, its damage at late growing stages of (14 weeks after growing on tuber yield was not appreciable. Times of hail damage on marketable tuber yield reduction was calculated through the regression. Relative reduction of marketable tuber yield at the early stages of vegetative growth, due to hail damage, against non-marketable tuber yield was higher than of bulking stage.

  12. Curative effect of Amorphophallus paeoniifolius tuber on experimental hemorrhoids in rats.

    Science.gov (United States)

    Dey, Yadu Nandan; Wanjari, Manish M; Kumar, Dharmendra; Lomash, Vinay; Jadhav, Ankush D

    2016-11-04

    Amorphophallus paeoniifolius (Dennst.) Nicolson (Family- Araceae) is a crop of south East Asian origin. In India, its tuber is widely used in ethnomedicinal practices by different tribes for the treatment of piles (hemorrhoids). The present study evaluated the effect of methanolic and aqueous extract of Amorphophallus paeoniifolius tuber on croton oil induced hemorrhoids in rats. The methanolic extract was standardized with the major phenolic compound, betulinic acid, by HPLC. The hemorrhoids were induced by applying 6% croton oil preparation in the ano-rectal region. Rats were orally administered methanolic and aqueous extract at doses of 250 and 500mg/kg, each for 7 days. Pilex (200mg/kg) was used as reference anti-hemorrhoidal drug. Hemorrhoids were assessed on eighth day by measuring hemorrhoidal and biochemical parameters along with histology of ano-rectal tissue. Croton oil application caused induction of hemorrhoids as indicated by significant (phemorrhoidal parameters and other biochemical parameters with attenuation of tissue damage compared to hemorrhoid control rats. The results indicate that tuber extracts exhibited curative action on hemorrhoids. The aqueous extract showed more pronounced effect than methanolic extract. The effects may be attributed to anti-inflammatory and antioxidant properties. Results indicate that tuber of Amorphophallus paeoniifolius exhibited curative action on hemorrhoids through anti-inflammatory and antioxidant properties. The study validates the ethnomedicinal use of tuber in hemorrhoids and implicates its therapeutic potential as an anti-hemorrhoidal agent. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  13. Hardware Design of Tuber Electrical Resistance Tomography System Based on the Soil Impedance Test and Analysis

    OpenAIRE

    Liu Shuyi; Deng Xiang; Jiang Zili; Tang Yu

    2016-01-01

    The hardware design of tuber electrical resistance tomography (TERT) system is one of the key research problems of TERT data acquisition system. The TERT system can be applied to the tuber growth process monitoring in agriculture, i.e., the TERT data acquisition system can realize the real imaging of tuber plants in soil. In TERT system, the imaging tuber and soil multiphase medium is quite complexity. So, the impedance test and analysis of soil multiphase medium is very important to the desi...

  14. Bacterial Infection Potato Tuber Soft Rot Disease Detection Based on Electronic Nose

    Directory of Open Access Journals (Sweden)

    Chang Zhiyong

    2017-11-01

    Full Text Available Soft rot is a severe bacterial disease of potatoes, and soft rot infection can cause significant economic losses during the storage period of potatoes. In this study, potato soft rot was selected as the research object, and a type of potato tuber soft rot disease early detection method based on the electronic nose technology was proposed. An optimized bionic electronic nose gas chamber and a scientific and reasonable sampling device were designed to detect a change in volatile substances of the infected soft rot disease of potato tuber. The infection of soft rot disease in potato tuber samples was detected and identified by using the RBF NN algorithm and SVM algorithm. The results revealed that the proposed bionic electronic nose system can be utilized for early detection of potato tuber soft rot disease. Through comparison and analysis, the recognition rate using the SVM algorithm reached up to 89.7%, and the results were superior to the RBF NN algorithm.

  15. Rapid differentiation between gamma-irradiated and non irradiated potato tubers

    International Nuclear Information System (INIS)

    Jona, R.; Fronda, A.

    1990-01-01

    The use of gamma irradiation as commercial method for the preservation of fruits and vegetables calls for methods of differentiation between irradiated and non-irradiated foodstuffs. In a previous research, the polysaccharidic content of cell walls of irradiated tissue has been investigated, but it required rather long time to reach the result. A method devised to ascertain the vitality of cells has been applied to distinguish irradiated from non-irradiated potato tubers. 500 mg of tissue excised from tubers have been infiltrated with tetrazolium chloride 0.6% in phosphate buffer, pH 7.4. After 15 hrs of incubation at 30 0 C the treated tissues have been extracted with 95% ethanol whose O.D. has been measured at 530 mμ wavelength. The colour intensity of the alcohol allowed a very clearcut recognition of the irradiated tubers. (author)

  16. Determinants of mortality in systemic sclerosis: a focused review.

    Science.gov (United States)

    Poudel, Dilli Ram; Jayakumar, Divya; Danve, Abhijeet; Sehra, Shiv Tej; Derk, Chris T

    2017-11-07

    Scleroderma (systemic sclerosis) is an autoimmune rheumatic disorder that is characterized by fibrosis, vascular dysfunction, and autoantibody production that involves most visceral organs. It is characterized by a high morbidity and mortality rate, mainly due to disease-related complications. Epidemiological data describing mortality and survival in this population have been based on both population and observational studies. Multiple clinical and non-clinical factors have been found to predict higher likelihood of death among thepatients. Here, we do an extensive review of the available literature, utilizing the PubMed database, to describe scleroderma and non-scleroderma related determinants of mortality in this population. We found that even though the mortality among the general population has declined, scleroderma continues to carry a very high morbidity and mortality rate, however we have made some slow progress in improving the mortality among scleroderma patients over the last few decades.

  17. Solanum Tuberíferos nuevos para Colombia - II

    Directory of Open Access Journals (Sweden)

    López Jaramillo Luis E.

    1986-06-01

    Full Text Available Durante los 174 años que han transcurrido desde la descripción del primer Solanum tuberífero silvestre de Colombia (VALENZUELA, 1809, se han descubierto en total 10 especies de papa silvestre en el país (CORRELL,1962; BTTTER,1913; OCHOA, 1978; LOPEZ-JARAMILLO, 1983. Esas especies son: Solanum andreanum Baker, S. colombianum Dun., S. estradae L. López J. S. flahaultii Bitt., S. qarciabarrigae Ochoa, S. lobbianum. Bitt., S. moscopanum. Hawkes, S. pamplonense L. Lopez J., S. papa Valenzuela y S. tuquerrense Hawkes. Las especies S. jublandifolium Dun. y S. ochranthum Dun., son comunes en Colombia, Perú y Venezuela y, aunque no son tuberíferas, están clasificadas dentro clel grupo por su morfología.El objeto cle esta publicación es describir una nueva especie proveniente del Departamento cle Santander. Se confirma así la sospecha de que aún quedan en Colombia especies tuberíferas nativas por descubrir. Estas especies están bajo amenaza de extinción debido a la rápida destrucción de los páramos que constituyen su hábitat natural.

  18. The effectiveness of behaviour change interventions to increase physical activity participation in people with multiple sclerosis: a systematic review and meta-analysis.

    Science.gov (United States)

    Sangelaji, Bahram; Smith, Catherin M; Paul, Lorna; Sampath, Kesava Kovanur; Treharne, Gareth J; Hale, Leigh Anne

    2016-06-01

    A systematic review and meta-analysis was conducted to illustrate whether people with multiple sclerosis engage in more physical activity following behaviour change interventions. MEDLINE, CINAHL, PubMed, Web of Sciences, Cochrane Library, SCOPUS, EMBASE and PEDro were searched from their inception till 30 April 2015. Randomized and clinical controlled trials that used behaviour change interventions to increase physical activity in people with multiple sclerosis were selected, regardless of type or duration of multiple sclerosis or disability severity. Data extraction was conducted by two independent reviewers and the Cochrane Collaboration's recommended method was used to assess the risk of bias of each included study. A total of 19 out of 573 studies were included. Focusing on trials without risk of bias, meta-analysis showed that behaviour change interventions can significantly increase physical activity participation (z = 2.20, p = 0.03, standardised main difference 0.65, 95% confidence interval 0.07 to 1.22, 3 trials, I(2) = 68%) (eight to 12 weeks' duration). Behaviour change interventions did not significantly impact on the physical components of quality of life or fatigue. Behaviour change interventions provided for relatively short duration (eight to 12 weeks) may increase the amount of physical activity people with multiple sclerosis engage in, but appear to have no effect on the physical components of quality of life and fatigue. Further high quality investigations of the efficacy of behaviour change interventions to increase physical activity participation that focus on dose, long-term impact and method of delivery are warranted for people with multiple sclerosis. © The Author(s) 2015.

  19. The Therapeutic Potential of the Ketogenic Diet in Treating Progressive Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Mithu Storoni

    2015-01-01

    Full Text Available Until recently, multiple sclerosis has been viewed as an entirely inflammatory disease without acknowledgment of the significant neurodegenerative component responsible for disease progression and disability. This perspective is being challenged by observations of a dissociation between inflammation and neurodegeneration where the neurodegenerative component may play a more significant role in disease progression. In this review, we explore the relationship between mitochondrial dysfunction and neurodegeneration in multiple sclerosis. We review evidence that the ketogenic diet can improve mitochondrial function and discuss the potential of the ketogenic diet in treating progressive multiple sclerosis for which no treatment currently exists.

  20. Selected methods of rehabilitation in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Agnieszka Gerkowicz

    2017-09-01

    Full Text Available Systemic sclerosis is a chronic connective tissue disease characterized by microvascular abnormalities, immune disturbances and progressive fibrosis of the skin and internal organs. Skin involvement may result in contractures, leading to marked loss of hand mobility, adversely affecting the performance of daily activities and decreasing the quality of life. Face involvement not only causes functional loss, but also lowers the self-esteem of patients. Increasing attention has recently been focused on the need to rehabilitate patients with systemic sclerosis in order to prevent the development of joint contractures and loss of mobility. The study presents a review of the current literature on rehabilitation possibilities in patients with systemic sclerosis, with a special focus on physiotherapy methods.

  1. The effects of enhanced methionine synthesis on amino acid and anthocyanin content of potato tubers

    Directory of Open Access Journals (Sweden)

    Bánfalvi Zsófia

    2008-06-01

    Full Text Available Abstract Background Potato is a staple food in the diet of the world's population and also being used as animal feed. Compared to other crops, however, potato tubers are relatively poor in the essential amino acid, methionine. Our aim was to increase the methionine content of tubers by co-expressing a gene involved in methionine synthesis with a gene encoding a methionine-rich storage protein in potato plants. Results In higher plants, cystathionine γ-synthase (CgS is the first enzyme specific to methionine biosynthesis. We attempted to increase the methionine content of tubers by expressing the deleted form of the Arabidopsis CgS (CgSΔ90, which is not regulated by methionine, in potato plants. To increase the incorporation of free methionine into a storage protein the CgSΔ90 was co-transformed with the methionine-rich 15-kD β-zein. Results demonstrated a 2- to 6-fold increase in the free methionine content and in the methionine content of the zein-containing protein fraction of the transgenic tubers. In addition, in line with higher methionine content, the amounts of soluble isoleucine and serine were also increased. However, all of the lines with high level of CgSΔ90 expression were phenotypically abnormal showing severe growth retardation, changes in leaf architecture and 40- to 60% reduction in tuber yield. Furthermore, the colour of the transgenic tubers was altered due to the reduced amounts of anthocyanin pigments. The mRNA levels of phenylalanine ammonia-lyase (PAL, the enzyme catalysing the first step of anthocyanin synthesis, were decreased. Conclusion Ectopic expression of CgSΔ90 increases the methionine content of tubers, however, results in phenotypic aberrations in potato. Co-expression of the 15-kD β-zein with CgSΔ90 results in elevation of protein-bound methionine content of tubers, but can not overcome the phenotypical changes caused by CgSΔ90 and can not significantly improve the nutritional value of tubers. The level

  2. Potato tuber pectin structure is influenced by pectin methyl esterase activity and impacts on cooked potato texture

    OpenAIRE

    Ross, Heather A.; Wright, Kathryn M.; McDougall, Gordon J.; Roberts, Alison G.; Chapman, Sean N.; Morris, Wayne L.; Hancock, Robert D.; Stewart, Derek; Tucker, Gregory A.; James, Euan K.; Taylor, Mark A.

    2010-01-01

    Although cooked potato tuber texture is an important trait that influences consumer preference, a detailed understanding of tuber textural properties at the molecular level is lacking. Previous work has identified tuber pectin methyl esterase activity (PME) as a potential factor impacting on textural properties. In this study, tuber PME isoform and gene expression profiles have been determined in potato germplasm with differing textural properties as assessed using an amended wedge fracture m...

  3. Mode of the absorption of water and nutrients by ascocarps of Tuber melanosporum and Tuber aestivum: a radioactive tracer technique

    International Nuclear Information System (INIS)

    Barry, D.; Staunton, S.; Callot, G.

    1994-01-01

    A simple technique has been developed to study the absorption capacity of the tufts of mycelial filaments, or hyphae, observed on both black and white truffles Tuber melanosporum and Tuber aestivum. These hyphae sprout from the tops of certain scales on the peridium of Tuber. They colonize the surrounding soil and could therefore exploit the nutrients from a large volume of soil. The ability to absorb organic and inorganic nutrients from a source other than the host is a necessary condition for the hypothesis we wished to test, namely that at some stage in its development the truffle ascocarp becomes autonomous. The absorption was demonstrated using autoradiography and liquid scintillation counting. We found that the tufts of hyphae are water permeable ( 3 H 2 O). In addition, they absorb a sugar ([ 14 C]mannose) and an anion ([ 32 P]phosphate). An analysis of our results shows that the spatial distribution of [ 32 P]phosphate is independent of that of tritiated water; the transport of phosphate is therefore not determined by water flux. The quantity and redistribution of the tracer depended on the application site, directly onto the peridium or on a mycelial tuft. The tufts increase the absorption of the tracer and influence its internal redistribution towards accumulation zones. (author)

  4. Diffuse interstitial pulmonary infiltrate associated with retroperitoneal mass: report of two cases

    International Nuclear Information System (INIS)

    Teixeira, A.A.; Ramos, M.V.; Natal, M.R.C.

    1990-01-01

    The authors describe two cases of diffuse pulmonary interstitial infiltrate associated with retroperitoneal mass. Both patients were females and presented spontaneous pneumothorax. One of them had a typical hystological presentation of lymphangiomyomatosis and in the other on the retroperitoneal mass was classified as an angiomyolipoma. Angiomyomatosis are often associated with tuberous sclerosis and lymphangiomyomatosis. A review of the literature and the differential diagnosis are presented. (author)

  5. Dielectric spectroscopy for evaluating dry matter content of potato tubers

    DEFF Research Database (Denmark)

    Nielsen, Glenn G. B.; Kjaer, Anders; Klösgen, Beate

    2016-01-01

    The present study investigated the application of dielectric spectroscopy as a method for evaluating the dry matter content of potato tubers. Sample specific factors determining the precision of this application were investigated by studying the prediction of the dry material content in agar gel...... of the predicted dry matter content was observed in chemically and spatially uniform systems, with a root mean square error (RMSE) of the predicted dry-matter content of 0.64 percentage points observed in agar gels containing refined potato starch. A marked decrease in precision is observed in model systems which...... include chemical variations between potato tuber samples. The added dry material content was predicted with a RMSE of 0.94 percentage points in agar gels with added dried material extracted from separate potato tubers. The local dry matter content from a region within 2 cm of the center location...

  6. [Pelvic floor muscles training, electrical stimulation, bladder training and lifestyle interventions to manage lower urinary tract dysfunction in multiple sclerosis: a systematic review].

    Science.gov (United States)

    Gaspard, L; Tombal, B; Castille, Y; Opsomer, R-J; Detrembleur, C

    2014-03-01

    To assess the effectiveness of conservative therapeutic approaches in a multiple sclerosis population. Review was performed in PubMed, PEDro, Scopus and Cochrane Library using combinations of the following keywords: multiple sclerosis; bladder dysfunction; overactive bladder; detrusor hyperreflexia; urge incontinence; urgency; stress incontinence; pelvic floor muscle; biofeedback; PTNS; tibial nerve; bladder training; physical therapy; physiotherapy; conservative treatment and behavioral therapy. Six randomized articles including 289 patients were selected. Four papers exhibited strong scores for the methodological quality assessment. The parameters always significantly improved concerned: number of incontinence episodes (decreased from 64% to 86% after treatment versus before treatment), quality of life (P≤0.001), severity of irritative symptoms (decreased by more than 50% after treatment versus before treatment), and nocturia (P=0.035 to Ptreatment of urinary disorders in multiple sclerosis populations with mild disability. However, the analyses are based on six studies within only four showed good methodological quality. No strong conclusions regarding treatment approaches can be drawn from this review. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  7. Thalamic changes with mesial temporal sclerosis: MRI

    Energy Technology Data Exchange (ETDEWEB)

    Deasy, N.P.; Jarosz, J.M.; Cox, T.C.S. [Department of Neuroradiology, King' s College Hospital, London (United Kingdom); Elwes, R.C.D. [Department of Neurology, King' s College Hospital, London (United Kingdom); Polkey, C.E. [Department of Neurosurgery, King' s College and Maudsley Hospitals, London (United Kingdom)

    2000-05-01

    We reviewed the preoperative images of 28 patients with pathologically proven mesial temporal sclerosis, to assess thalamic asymmetry and signal change. A further 25 nonsurgical patients with temporal lobe epilepsy and unequivocal, unilateral changes of mesial temporal sclerosis, and 20 controls, were also reviewed. None of the control group had unequivocal asymmetry of the thalamus. There was an ipsilateral asymmetrically small thalamus in five (18 %) of the surgical group and in three (12 %) of the nonsurgical patients. In four cases there was thalamic signal change. In three patients with thalamic volume loss there was ipsilateral hemiatrophy. All patients with an asymmetrically small thalamus had an asymmetrically small fornix and all but one a small ipsilateral mamillary body. (orig.)

  8. Amylose content decreases during tuber development in potato.

    Science.gov (United States)

    Jansky, Shelley; Fajardo, Diego

    2016-10-01

    Potato starch is composed primarily of amylopectin and amylose in an approximately 3:1 ratio. Amylose is considered to be nutritionally desirable in North American and European markets, so there is interest in finding strategies to increase the amylose content of potato starch. There is also interest in marketing 'baby' potatoes, which are harvested when they are physiologically immature. This study was carried out to determine weekly changes in amylose content in potato tubers of 11 North American cultivars during the growing season. The trial was repeated across 3 years. We determined that amylose content is highest early and it decreases in a linear fashion as the growing season progresses. Mean amylose content across cultivars and years declined from 30.0% in late June to 26.8% in late August. The rate of decrease varied across years, with slopes of linear regression plots ranging from -0.17 in 2012 to -0.74 in 2011. Amylose content in tuber starch varied among cultivars, with the highest levels observed in Ranger Russet (30.7%) and White Pearl (31.6%); it was lowest in Kennebec (25.7%) and Langlade (25.6%). This study adds to a growing body of literature on the nutritional value of immature potato tubers. In addition to having higher levels of some phytonutrients, as reported in other studies, immature tubers have a higher proportion of amylose in the starch. This is nutritionally desirable in affluent regions where high fiber content is more important than calories from carbohydrates. Published 2016. This article is a U.S. Government work and is in the public domain in the USA. Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

  9. Vaccines and multiple sclerosis

    DEFF Research Database (Denmark)

    Frederiksen, J. L.; Topsøe Mailand, M.

    2017-01-01

    An association between certain vaccinations and onset or relapse of multiple sclerosis (MS) has been debated. Based on PubMed, we made a thorough literature review and included all relevant studies, 51 on MS and 15 on optic neuritis (ON). Case studies were excluded. With the exception of a live...

  10. Identification of irradiated food. II. Identification of irradiated potato tubers by means of a test based on the variations of electrical conductivity

    International Nuclear Information System (INIS)

    Mazon Matanzo, M.P.; Fernandez Gonzalez, J.

    1976-01-01

    A method based on the measurement of the electrical conductivity of potato tubers is described. By means of this method irradiated tubers can be distinguished from IPC treated tubers and control tubers. The values of conductivity in the control and INC treated tubers were about 0,2 millimhos/cm, while those in the irradiated tubers oscillated about 0,17 millimhos/cm. (author) [es

  11. Cognitive rehabilitation in multiple sclerosis: A systematic review.

    Science.gov (United States)

    Mitolo, Micaela; Venneri, Annalena; Wilkinson, Iain D; Sharrack, Basil

    2015-07-15

    Cognitive impairment is a common clinical feature of multiple sclerosis (MS) at both the earlier and later stages of the disease, and has a significant impact on patients' functional status and quality of life. The need to address this deficit should be taken into account in clinical practice and research studies. To conduct an updated systematic review of all published studies of cognitive rehabilitation interventions in people with MS, including studies with methodological shortcomings, to highlight major strengths and weaknesses in the field and to provide directions for future research. We searched electronic databases (PubMed and Web of Science) for articles published in English up until January 2014. The reference lists of all identified articles were also searched to complete the initial list of references. Articles were categorized into outcome measures: cognition, imaging, mood, fatigue, quality of life and self-perceived cognitive deficits. All articles were reviewed independently and assessed according to predetermined criteria. A total of 33 studies met the inclusion criteria of which 4 were of Level II-1 and none was Level I. Although the majority of these studies reported some improvements in cognitive abilities (N=31), the evidence which has been reported in the literature remains inconclusive and no definite conclusions can be drawn about the effect of different types of interventions on cognitive rehabilitation outcomes (recommendation C). This review identified conflicting findings in the published literature about the effectiveness of various forms of cognitive rehabilitation techniques used in patients with MS. Studies with more rigorous methodology are therefore needed to clarify which form of cognitive rehabilitation may lead to greater clinical improvement. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. A potato tuber-expressed mNRA with homology to steroid dehydrogenases affects gibberellin levels and plant development

    NARCIS (Netherlands)

    Bachem, C.W.B.; Horvath, B.M.; Trindade, L.M.; Claassens, M.M.J.; Davelaar, E.; Jordi, W.J.R.M.; Visser, R.G.F.

    2001-01-01

    Using cDNA-AFLP RNA fingerprinting throughout potato tuber development, we have isolated a transcript-derived fragment (TDF511) with strong homology to plant steroid dehydrogenases. During in vitro tuberization, the abundance profile of the TDF shows close correlation to the process of tuber

  13. Vision and vision-related outcome measures in multiple sclerosis

    DEFF Research Database (Denmark)

    Balcer, Laura J; Miller, David H; Reingold, Stephen C

    2015-01-01

    Visual impairment is a key manifestation of multiple sclerosis. Acute optic neuritis is a common, often presenting manifestation, but visual deficits and structural loss of retinal axonal and neuronal integrity can occur even without a history of optic neuritis. Interest in vision in multiple...... sclerosis is growing, partially in response to the development of sensitive visual function tests, structural markers such as optical coherence tomography and magnetic resonance imaging, and quality of life measures that give clinical meaning to the structure-function correlations that are unique...... of investigators involved in the development and study of visual outcomes in multiple sclerosis, which had, as its overriding goals, to review the state of the field and identify areas for future research. We review data and principles to help us understand the importance of vision as a model for outcomes...

  14. The effect of exercise therapy on fatigue in multiple sclerosis

    DEFF Research Database (Denmark)

    Andreasen, A; Stenager, E; Dalgas, U

    2011-01-01

    Fatigue occurs in the majority of patients with multiple sclerosis (MS) and therapeutic possibilities are few. Exercise therapy is a therapeutic option but no studies have systematically reviewed the existing literature evaluating the effect of exercise therapy on MS fatigue.......Fatigue occurs in the majority of patients with multiple sclerosis (MS) and therapeutic possibilities are few. Exercise therapy is a therapeutic option but no studies have systematically reviewed the existing literature evaluating the effect of exercise therapy on MS fatigue....

  15. Gastrokinetic Activity of Amorphophallus paeoniifolius Tuber in Rats

    Directory of Open Access Journals (Sweden)

    Yadu Nandan Dey

    2016-03-01

    Results: The pretreatment of extracts significantly increased the number of feces, wet and dry weight of feces, moisture content, gastric emptying and intestinal transit. Results were comparable to metoclopramide. Further APME and APAE showed contraction of fundus and ileum in isolated preparations. APME and APAE were also found to have fair amount of glucomannan, total phenolics and flavonoids. The results indicate the gastrokinetic potential of the tuber extracts. This may be attributed to presence of glucomannan and betulinic acid present in the extracts. Conclusion: In conclusion, the tuber of Amorphophallus paeoniifolius exhibits gastrokinetic activity and substantiates its traditional use in gastrointestinal motor disturbances. [J Complement Med Res 2016; 5(1.000: 36-42

  16. Multiple sclerosis: Pregnancy and women's health issues.

    Science.gov (United States)

    Mendibe Bilbao, M; Boyero Durán, S; Bárcena Llona, J; Rodriguez-Antigüedad, A

    2016-08-18

    The course of multiple sclerosis (MS) is influenced by sex, pregnancy and hormonal factors. To analyse the influence of the above factors in order to clarify the aetiopathogenic mechanisms involved in the disease. We conducted a comprehensive review of scientific publications in the PubMed database using a keyword search for 'multiple sclerosis', 'MS', 'EAE', 'pregnancy', 'hormonal factors', 'treatment', and related terms. We reviewed the advances presented at the meeting held by the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) in March 2013 in London, as well as recommendations by international experts. We provide recommendations for counselling and treating women with MS prior to and during pregnancy and after delivery. Current findings on the effects of treatment on the mother, fetus, and newborn are also presented. We issue recommendations for future research in order to address knowledge gaps and clarify any inconsistencies in currently available data. Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Influence of Cultivar on the Postharvest Hardening of Trifoliate Yam (Dioscorea dumetorum Tubers

    Directory of Open Access Journals (Sweden)

    Christian Siadjeu

    2016-01-01

    Full Text Available The influence of cultivar on the postharvest hardening of Dioscorea dumetorum tubers was assessed. 32 cultivars of D. dumetorum tubers were planted in April 2014, harvested at physiological maturity, and stored under prevailing tropical ambient conditions (19–28°C, 60–85% RH for 0, 5, 14, 21, and 28 days. Samples were evaluated for cooked hardness. Results showed that one cultivar, Ibo sweet 3, was not affected by the hardening phenomenon. The remaining 31 were all subject to the hardening phenomenon at different degree. Cooked hardness increased more rapidly in cultivars with many roots on the tuber surface compared to cultivars with few roots on the tuber surface. When both the characteristics flesh colour and number of roots on tuber surface were associated, cooked hardness in cultivars with yellow flesh and many roots increased more rapidly than in cultivars with white flesh and many roots, whereas cooked hardness in cultivars with yellow flesh and few roots increased more slowly than in cultivars with white flesh and few roots. Accessions collected in high altitude increased more rapidly compared to accessions collected in low altitude. The cultivar Ibo sweet 3 identified in this study could provide important information for breeding program of D. dumetorum against postharvest hardening phenomenon.

  18. Multiple alleles for tuber shape in diploid potato detected by qualitative and quantitative genetic analysis using RFLPs.

    NARCIS (Netherlands)

    Eck, van H.J.; Jacobs, J.M.E.; Stam, P.; Ton, J.; Stiekema, W.J.; Jacobsen, E.

    1994-01-01

    Tuber shape in potato is commonly regarded as displaying continuous variation, yet at the diploid level phenotypes can be discerned visually, having round or long tubers. Inheritance of qualitative tuber shape can be explained by a single locus Ro, round being dominant to long. With restriction

  19. Enzymatic browning and after-cooking darkening of Jerusalem artichoke tubers (Helianthus tuberosus L.).

    Science.gov (United States)

    Bach, Vibe; Jensen, Sidsel; Clausen, Morten R; Bertram, Hanne C; Edelenbos, Merete

    2013-11-15

    Jerusalem artichoke tubers (Helianthus tuberosus L.) undergo enzymatic browning when peeled or cut, and turn grey after boiling, due to after-cooking darkening reactions between iron and phenolic acids. In an attempt to reveal the components responsible for these discolouration reactions, sensory evaluation and instrumental colour measurements were related to contents of total phenolics, phenolic acids, organic acids and iron in three varieties of raw and boiled Jerusalem artichoke tubers harvested in the autumn and the spring. No differences were found between varieties in sensory evaluated enzymatic browning, but Rema and Draga had higher scores than Mari in after-cooking darkening. Jerusalem artichoke tubers had higher contents of total phenolics, phenolic acids and citric acid in the autumn and low contents in the spring, while it was the opposite for malic acid. None of the chemical parameters investigated could explain the discolouration of the Jerusalem artichoke tubers. Copyright © 2013 Elsevier Ltd. All rights reserved.

  20. A systematic review of overlapping microRNA patterns in systemic sclerosis and idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Bagnato, Gianluca; Roberts, William Neal; Roman, Jesse; Gangemi, Sebastiano

    2017-06-30

    Lung fibrosis can be observed in systemic sclerosis and in idiopathic pulmonary fibrosis, two disorders where lung involvement carries a poor prognosis. Although much has been learned about the pathogenesis of these conditions, interventions capable of reversing or, at the very least, halting disease progression are not available. Recent studies point to the potential role of micro messenger RNAs (microRNAs) in cancer and tissue fibrogenesis. MicroRNAs are short non-coding RNA sequences (20-23 nucleotides) that are endogenous, evolutionarily conserved and encoded in the genome. By acting on several genes, microRNAs control protein expression. Considering the above, we engaged in a systematic review of the literature in search of overlapping observations implicating microRNAs in the pathogenesis of both idiopathic pulmonary fibrosis (IPF) and systemic sclerosis (SSc). Our objective was to uncover top microRNA candidates for further investigation based on their mechanisms of action and their potential for serving as targets for intervention against lung fibrosis. Our review points to microRNAs of the -29 family, -21-5p and -92a-3p, -26a-5p and let-7d-5p as having distinct and counter-balancing actions related to lung fibrosis. Based on this, we speculate that readjusting the disrupted balance between these microRNAs in lung fibrosis related to SSc and IPF may have therapeutic potential. Copyright ©ERS 2017.

  1. Retinal layer segmentation in multiple sclerosis

    DEFF Research Database (Denmark)

    Petzold, Axel; Balcer, Laura J; Calabresi, Peter A

    2017-01-01

    BACKGROUND: Structural retinal imaging biomarkers are important for early recognition and monitoring of inflammation and neurodegeneration in multiple sclerosis. With the introduction of spectral domain optical coherence tomography (SD-OCT), supervised automated segmentation of individual retinal...... layers is possible. We aimed to investigate which retinal layers show atrophy associated with neurodegeneration in multiple sclerosis when measured with SD-OCT. METHODS: In this systematic review and meta-analysis, we searched for studies in which SD-OCT was used to look at the retina in people...... with multiple sclerosis with or without optic neuritis in PubMed, Web of Science, and Google Scholar between Nov 22, 1991, and April 19, 2016. Data were taken from cross-sectional cohorts and from one timepoint from longitudinal studies (at least 3 months after onset in studies of optic neuritis). We classified...

  2. Fingolimod hydrochloride for the treatment of relapsing remitting multiple sclerosis.

    Science.gov (United States)

    Thomas, Katja; Proschmann, Undine; Ziemssen, Tjalf

    2017-10-01

    Fingolimod was the first oral and the first in class disease modifying treatment in multiple sclerosis that acts as sphingosine-1-phospathe receptor agonist. Since approval in 2010 there is a growing experience with fingolimod use in clinical practice, but also next-generation sphingosin-1-receptor agonists in ongoing clinical trials. Growing evidence demonstrates additional effects beyond impact on lymphocyte circulation, highlighting further promising targets in multiple sclerosis therapy. Areas covered: Here we present a systematic review using PubMed database searching and expert opinion on fingolimod use in clinical practice. Long-term data of initial clinical trials and post-marketing evaluations including long-term efficacy, safety, tolerability and management especially within growing disease modifying treatment options and pre-treatment constellation in multiple sclerosis patients are critically discussed. Furthermore novel findings in mechanism of actions and prospective on additional use in progressive forms in multiple sclerosis are presented. Expert opinion: There is an extensive long-term experience on fingolimod use in clinical practice demonstrating the favorable benefit-risk of this drug. Using a defined risk management approach experienced MS clinicians should apply fingolimod after critical choice of patients and review of clinical aspects. Further studies are essential to discuss additional benefit in progressive forms in multiple sclerosis.

  3. Occurrence of Parthenogenesis in Potato Tuber Moth

    Science.gov (United States)

    Liu, Yan; Hu, Chun-Hua; Wang, Chun-Ya; Xiong, Yan; Li, Zong-Kai; Xiao, Chun

    2018-01-01

    Abstract Parthenogenesis, a natural form of asexual reproduction produced from unfertilized eggs, occurs in many insects in Hemiptera and Hymenoptera, but very rarely in Lepidoptera. The current study aimed to test the larval density dependent occurrence of parthenogenesis in potato tuber moth, Phthorimaea operculella (Zeller; Lepidoptera: Gelechiidae) under laboratory conditions. More than 10% of females out of 25 tested females that developed from the high larval density treatment at 45 larvae per tuber were capable to reproduce asexually. Both male and female offspring were produced parthenogenetically. The sexually reproductive offspring of a laboratory parthenogenetic population had a lower egg hatch rate, shorter larval stage, and shorter male life span when compared with the non-parthenogenetic population. This suggests that the sexually reproductive offspring of parthenogenetic population have a decreased overall fitness compared to the sexually reproductive offspring of non-parthenogenetic population.

  4. The immunogenetics of multiple sclerosis

    DEFF Research Database (Denmark)

    Svejgaard, A.

    2008-01-01

    with complex genetic backgrounds. HLA controls immune response genes and HLA associations indicate the involvement of autoimmunity. Multiple sclerosis (MS) was one of the first conditions proven to be HLA associated involving primarily HLA class II factors. We review how HLA studies give fundamental...

  5. Placa fibrosa de la frente o del cuero cabelludo: Un marcador cutáneo temprano del complejo de la esclerosis tuberosa Forehead or scalp fibrous plaque: An earley cutaneous marker in tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    A. E Saponaro

    2010-09-01

    Full Text Available El complejo de la Esclerosis tuberosa es una afección hereditaria, que se transmite en forma autosómica dominante. Se caracteriza por convulsiones, retraso mental y manifestaciones en diversos órganos. Los signos cutáneos suelen ser determinantes para el diagnóstico de la enfermedad. Entre éstos se destaca la placa fibrosa, la que se localiza más frecuentemente en la frente, pero puede observarse en cualquier área del cuero cabelludo. Cuando está presente, suele ser el signo cutáneo inicial de la enfermedad, como ocurrió en nuestro paciente, subdiagnosticado. Su importancia radica entonces en reconocerlo como un marcador precoz y patognomónico de la enfermedad.The complex of tuberous sclerosis is an hereditary disease that passes in the autosomal dominant way. It is characterized by convulsions, mental retardation and manifestations in different organs. The cutaneous signs are used to be determinant for the diagnosis of the illness. Among these, it is important the fibrous plaque, which is usually localized in the forehead, but it can also be observed in any area of the scalp.When it is presented, it is used to be the first cutaneous sign of the illness, and like it happened in our patient, underdiagnosed. So, the importance of the fibrous plaque lies in recognizing it as an early cutaneous marker and pathognomonic of the disease.

  6. Optical Coherence Tomography-A New Diagnostic Tool to Evaluate Axonal Degeneration in Multiple Sclerosis: A Review

    Directory of Open Access Journals (Sweden)

    Nilüfer Kale

    2010-09-01

    Full Text Available Multiple sclerosis is an inflammatory demyelinating disorder of the central nervous system with a wide spectrum of clinical signs and symptoms. Multiple sclerosis lesions have a predilection for the optic nerves, periventricular white matter, brainstem, spinal cord, and cerebellum. The mechanisms responsible for multiple sclerosis are complex and heterogeneous across patients and disease stages. No specific markers exist for the definite diagnosis and prognosis of multiple sclerosis. The afferent visual pathway, which extends from the retina to the primary visual cortex including the optic nerve, is one of the most commonly affected sites in multiple sclerosis (94-99%. Pathology of affected optic nerves exhibits inflammation, demyelination, gliosis, axonal injury, and thinning of the retinal nerve fiber layer (RNFL. The RNFL is composed of unmyelinated axons, and measuring RNFL thickness is a viable method to monitor axonal loss reflecting disease progression. Optical coherence tomography is a noninvasive and reproducible tool in assessing the impact of multiple sclerosis on the thickness of the RNFL. Assessment of the afferent visual pathway using clinical, imaging and electrophysiological methods provides insights into the pathophysiology of multiple sclerosis and may also serve a prognostic role in multiple sclerosis

  7. Hardware Design of Tuber Electrical Resistance Tomography System Based on the Soil Impedance Test and Analysis

    Directory of Open Access Journals (Sweden)

    Liu Shuyi

    2016-01-01

    Full Text Available The hardware design of tuber electrical resistance tomography (TERT system is one of the key research problems of TERT data acquisition system. The TERT system can be applied to the tuber growth process monitoring in agriculture, i.e., the TERT data acquisition system can realize the real imaging of tuber plants in soil. In TERT system, the imaging tuber and soil multiphase medium is quite complexity. So, the impedance test and analysis of soil multiphase medium is very important to the design of sensitive array sensor subsystem and signals processing circuits. In the paper, the soil impedance test experimental is described and the results are analysed. The data acquisition hardware system is designed based on the result of soil medium impedance test and analysis. In the hardware design, the switch control chip ADG508, the instrumentation amplifier AD620 and programmable amplifier AD526 are employed. In the meantime, the phase locked loop technique for signal demodulation is introduced. The initial data collection is given and discussed under the conditions of existing plant tuber and no existing plant tuber. Conclusions of the hardware design of TERT system are presented.

  8. Zinc in multiple sclerosis

    DEFF Research Database (Denmark)

    Bredholt, Mikkel; Fredriksen, Jette Lautrup

    2016-01-01

    In the last 35 years, zinc (Zn) has been examined for its potential role in the disease multiple sclerosis (MS). This review gives an overview of the possible role of Zn in the pathogenesis of MS as well as a meta-analysis of studies having measured Zn in serum or plasma in patients with MS...

  9. Influence of plastic mulch on damage and yield of yam tuber by yam ...

    African Journals Online (AJOL)

    Design with three treatments: black plastic mulch, white plastic mulch and as unprotected control plot which were replicated three times. Data collected were, the number, depth and diameter of feeding holes on yam tuber (Dioscorea rotundata cv adaka), tuber yield and percentage yield increase over control as well as ...

  10. Effect of exercise interventions on perceived fatigue in people with multiple sclerosis: synthesis of meta-analytic reviews.

    Science.gov (United States)

    Safari, Reza; Van der Linden, Marietta L; Mercer, Tom H

    2017-06-01

    Although exercise training has been advocated as a nonpharmacological treatment for multiple sclerosis (MS) related fatigue, no consensus exists regarding its effectiveness. To address this, we collated meta-analytic reviews that explored the effectiveness of exercise training for the treatment of MS-related fatigue. We searched five online databases for relevant reviews, published since 2005, and identified 172 records. Five reviews were retained for systematic extraction of information and evidence quality analysis. Although our review synthesis indicated that exercise training interventions have a moderate effect on fatigue reduction in people with MS, no clear insight was obtained regarding the relative effectiveness of specific types or modes of exercise intervention. Moreover, Grading of Recommendation Assessment, Development and Evaluation revealed that the overall quality of evidence emanating from these five reviews was 'very low'.

  11. Roentgenographic-pathologic correlation of diffuse sclerosis in Ewing sarcoma of bone

    International Nuclear Information System (INIS)

    Shirley, S.K.; Kissane, J.M.; Siegal, G.P.; Askin, F.B.; Foulkes, M.A.; University of Texas Cancer Center, Houston

    1984-01-01

    Roentgenographic review of the first 210 cases of Ewing sarcoma (ES) in the Intergroup Ewing Sarcoma Study revealed that 37.6% of cases has evidence of diffusely increased intraosseous density or diffuse sclerosis (DS). In these cases the sclerosis was usually mixed with various patterns of lysis and/or combined with a periosteal reaction. A radiograph blinded histologic review of selected biopsies showed an 83% incidence of dead bone compared to 23% in those without DS. Ten percent of the cases with DS had appositional new bone formation on dead bone whereas none of the cases without DS showed such reactions. Pathologic explanation of the roentgenographically identified diffuse sclerosis in ES has not been previously well documented in the medical literature. (orig.)

  12. ECTRIMS/ACTRIMS 2017: Closing in on neurorepair in progressive multiple sclerosis.

    Science.gov (United States)

    Kremer, David; Küry, Patrick; Hartung, Hans-Peter

    2018-04-01

    While there is now a multitude of potent medications for relapsing-remitting multiple sclerosis (RRMS), effective therapies targeting neurodegeneration in progressive multiple sclerosis types are still lacking. Stimulation of neurorepair in this disease remains a pathogenetically defined treatment goal. However, therapeutic progress is slowed by the still inadequate tool set to capture "regeneration/repair" in MS and to define appropriate outcomes in clinical trials. In this review, we discuss studies investigating promising regenerative agents for progressive MS which were recently presented during the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS)/Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) 2017 meeting in Paris.

  13. Hippocampal Sclerosis in Older Patients: Practical Examples and Guidance With a Focus on Cerebral Age-Related TDP-43 With Sclerosis.

    Science.gov (United States)

    Cykowski, Matthew D; Powell, Suzanne Z; Schulz, Paul E; Takei, Hidehiro; Rivera, Andreana L; Jackson, Robert E; Roman, Gustavo; Jicha, Gregory A; Nelson, Peter T

    2017-08-01

    - Autopsy studies of the older population (≥65 years of age), and particularly of the "oldest-old" (≥85 years of age), have identified a significant proportion (∼20%) of cognitively impaired patients in which hippocampal sclerosis is the major substrate of an amnestic syndrome. Hippocampal sclerosis may also be comorbid with frontotemporal lobar degeneration, Alzheimer disease, and Lewy body disease. Until recently, the terms hippocampal sclerosis of aging or hippocampal sclerosis dementia were applied in this context. Recent discoveries have prompted a conceptual expansion of hippocampal sclerosis of aging because (1) cellular inclusions of TAR DNA-binding protein 43 kDa (TDP-43) are frequent; (2) TDP-43 pathology may be found outside hippocampus; and (3) brain arteriolosclerosis is a common, possibly pathogenic, component. - To aid pathologists with recent recommendations for diagnoses of common neuropathologies in older persons, particularly hippocampal sclerosis, and highlight the recent shift in diagnostic terminology from HS-aging to cerebral age-related TDP-43 with sclerosis (CARTS). - Peer-reviewed literature and 5 autopsy examples that illustrate common age-related neuropathologies, including CARTS, and emphasize the importance of distinguishing CARTS from late-onset frontotemporal lobar degeneration with TDP-43 pathology and from advanced Alzheimer disease with TDP-43 pathology. - In advanced old age, the substrates of cognitive impairment are often multifactorial. This article demonstrates common and frequently comorbid neuropathologic substrates of cognitive impairment in the older population, including CARTS, to aid those practicing in this area of pathology.

  14. Can arbuscular mycorrhiza fungi and NPK fertilizer suppress nematodes and improve tuber yield of yam (Dioscorea rotundata ‘cv’ ewuru?

    Directory of Open Access Journals (Sweden)

    Gani Oladejo Kolawole

    2018-04-01

    Full Text Available Poor soil fertility and nematodes limit yam tuber yield and quality. Arbuscular mycorrhizal fungi (AMF and fertilizers may suppress nematodes and improve yam productivity. We evaluated the extent AMF and fertilizer suppressed nematodes and improved yam performance. Tuber weight, mycorrhizal colonization of roots and nematode populations were evaluated with eight treatments; Control (No amendments, 90-50-75, kg N- P2O5-K2O ha-1 (NPK, (AMF (2g/kg soil, nematodes (5000 juvenile/pot, and their combinations. Tuber weight was higher in NPK+AMF and NPK+nematode treatments than AMF+nematode. NPK+AMF improved tuber weight by 17.5% and 32% compared with sole NPK or AMF respectively. Compared with control, nematodes did not reduce tuber weight but, AMF+nematode reduced it by 49.4%. NPK reduced AMF colonization of roots and reduced nematode population on tuber, in roots and soil by 34%, 42.6% and 41% respectively. NPK+AMF treatment was superior to either NPK or AMF in improving tuber yield while NPK was superior to AMF in suppressing nematodes in roots, soil, and tuber.

  15. Reactivation of meristem activity and sprout growth in potato tubers require both cytokinin and gibberellin.

    Science.gov (United States)

    Hartmann, Anja; Senning, Melanie; Hedden, Peter; Sonnewald, Uwe; Sonnewald, Sophia

    2011-02-01

    Reactivation of dormant meristems is of central importance for plant fitness and survival. Due to their large meristem size, potato (Solanum tuberosum) tubers serve as a model system to study the underlying molecular processes. The phytohormones cytokinins (CK) and gibberellins (GA) play important roles in releasing potato tuber dormancy and promoting sprouting, but their mode of action in these processes is still obscure. Here, we established an in vitro assay using excised tuber buds to study the dormancy-releasing capacity of GA and CK and show that application of gibberellic acid (GA(3)) is sufficient to induce sprouting. In contrast, treatment with 6-benzylaminopurine induced bud break but did not support further sprout growth unless GA(3) was administered additionally. Transgenic potato plants expressing Arabidopsis (Arabidopsis thaliana) GA 20-oxidase or GA 2-oxidase to modify endogenous GA levels showed the expected phenotypical changes as well as slight effects on tuber sprouting. The isopentenyltransferase (IPT) from Agrobacterium tumefaciens and the Arabidopsis cytokinin oxidase/dehydrogenase1 (CKX) were exploited to modify the amounts of CK in transgenic potato plants. IPT expression promoted earlier sprouting in vitro. Strikingly, CKX-expressing tubers exhibited a prolonged dormancy period and did not respond to GA(3). This supports an essential role of CK in terminating tuber dormancy and indicates that GA is not sufficient to break dormancy in the absence of CK. GA(3)-treated wild-type and CKX-expressing tuber buds were subjected to a transcriptome analysis that revealed transcriptional changes in several functional groups, including cell wall metabolism, cell cycle, and auxin and ethylene signaling, denoting events associated with the reactivation of dormant meristems.

  16. Effect of physical and mechanical properties of cassava tubers on the performance of an automated peeling machine

    Directory of Open Access Journals (Sweden)

    O.C. Ademosun

    2012-12-01

    Full Text Available Peeling of cassava tuber at all levels is still largely carried out manually; however, this work is presented with a view to investigate the effect of physical and mechanical properties of cassava tubers on mechanical peeling and hence provides a basis for cassava peeling mechanization. These properties include size of the tuber, tl, proportion by weight of peel, wp, average moisture content of the peel, map, peel thickness, tp, tuber diameter, td, tuber surface taper angle, α, peel penetration force, F, and peel shearing stress, ts. The results showed that for Slmhf; tl ranged from 140-460mm, wp ranged from 13.12-20.06%, map was 76.27%, tp ranged from 1.62-4.34mm, td ranged from 31.08-136.63mm, α ranged from 9.03-23.130, F ranged from 0.17-1.85N/mm, ts ranged from 0.85-9.25N/mm2 and quality performance of the machine, QPE, for this tuber ranged from 70.82-96.21%. Similarly, for Ssmlf; tl ranged from 125-362mm, wp ranged from 10.52-16.66%, map was 70.97%, tp ranged from 1.22-4.12mm, td ranged from 18.86-99.29mm, α ranged from 5.20-12.290, F ranged from 0.13-1.54N/mm, ts ranged from 0.65-7.70N/mm2 and quality performance of the machine, QPE, for this tuber ranged from 67.27-92.25 %. The results confirm influence of physico-mechanical properties of cassava tuber on mechanical peeling.

  17. Extensive Variation in Fried Chip Color and Tuber Composition in Cold-Stored Tubers of Wild Potato (Solanum) Germplasm

    Science.gov (United States)

    Cold-induced sweetening and browning in the Maillard reaction have driven extensive research in the areas of plant physiology, biochemistry, and food science in Solanum tuberosum. To date, research in these areas excluded wild relatives of potato. This is the first assessment of cold-stored tuber c...

  18. Quantitative determination of chlorogenic acid in γ-ray-irradiated potato tubers by high performance liquid chromatography

    International Nuclear Information System (INIS)

    Nishizawa, Makoto; Chonan, Takao; Yamagishi, Takashi; Ando, Yoshiaki

    1984-01-01

    Chlorogenic acid (CGA) and caffeic acid (CA) in lyophilized potato tubers were quantitatively determined by high performance liquid chromatography (HPLC), and the changes in CGA contents of γ-ray-irradiated potato tubers (100 Gy) during storage at 25 0 C were studied. The CGA contents of the irradiated potato tubers slightly increased immediately after irradiation, but decreased gradually after 29th day and reached the same level as that in the beginning of storage on the 73rd day after irradiation. However, the CGA contents of the unirradiated potato tubers increased steadily with increasing days of storage period, and reached twice that in the beginning of storage on the 73rd day after irradiation. The CGA contents in potato tubers determined by Diazo and Folin-Denis methods were shown to be two - eight times higher than those by HPLC method, and there appeared to be no significant relation between the CGA contents determined by HPLC method and by colorimetrical methods. (author)

  19. Tuber aestivum association with non-host roots

    Czech Academy of Sciences Publication Activity Database

    Gryndler, Milan; Černá, Lucie; Bukovská, Petra; Hršelová, Hana; Jansa, Jan

    2014-01-01

    Roč. 24, č. 8 (2014), s. 603-610 ISSN 0940-6360 R&D Projects: GA ČR(CZ) P504/10/0382 Institutional support: RVO:61388971 Keywords : Tuber aestivum * ectomycorrhiza * soil Subject RIV: EE - Microbiology, Virology Impact factor: 3.459, year: 2014

  20. MR findings of congenital craniocerebral anomaly: correlation with seizures and development delay

    International Nuclear Information System (INIS)

    Ko, Seog Wan; Seo, Jeong Jin; Kim, Yun Hyeon; Yoon, Jong Hun; Kim, Hyun Ju; Kim, Hyeong Kil; Kang, Heoung Keun; Chung, Hyon De

    1995-01-01

    To evaluate characteristic MR findings of craniocerebral anomaly and its relationship with neurologic manifestations. We retrospectively reviewed MR images of 36 patients with craniocerebral anomaly diagnosed by MRI and clinical courses. We correlated the characteristic MR findings in 41 lesions with neurologic manifestations focusing on seizures and developmental delay. Twenty-three patients with seizures consisted of 14 patients(60%) with neuronal migration disorders and seven(30%) with phakomatosis, among which 18 patients(78%) had generalized type of seizures. Locations of the lesions were the parietal lobes in 11 patients(52%) and the subependymal or periventricular regions in seven(33%). Two patients with tuberous sclerosis had the lesions in both parietal and subependymal areas. Nine patients had the signs of developmental delay that were seen in the four(44%) with schizencephaly, two (22%) with tuberous sclerosis, two(22%) with heterotopia, and noe(11%) with pachygyria. Neuronal migration anomaly was relatively common lesion that presented neurologic festations such as seizures and developmental delay. Generalized type of seizures were common. We were able to diagnose these anomalies using the MRI that helped establish therapeutic plans

  1. Adapting Ground Penetrating Radar for Non-Destructive In-Situ Root and Tuber Assessment

    Science.gov (United States)

    Teare, B. L.; Hays, D. B.; Delgado, A.; Dobreva, I. D.; Bishop, M. P.; Lacey, R.; Huo, D.; Wang, X.

    2017-12-01

    Ground penetrating radar (GPR) is a rapidly evolving technology extensively used in geoscience, civil science, archeology, and military, and has become a novel application in agricultural systems. One promising application of GPR is for root and tuber detection and measurement. Current commercial GPR systems have been used for detection of large roots, but few studies have attempted to detect agronomic roots, and even fewer have attempted to measure and quantify the total root mass. The ability to monitor and measure root and tuber mass and architecture in an agricultural setting would have far-reaching effects. A few of these include the potential for breeding higher yielding root and tuber crops, rapid bulking roots, discovery of crops with greater carbon sequestration, discovery of plant varieties which have greater ability to stabilize slopes against erosion and slope failure, and drought tolerant varieties. Despite the possible benefits and the current maturity of GPR technology, several challenges remain in the attempt to optimize its use for root and tuber detection. These challenges center on three categories: spatial resolution, data processing, and field-deployable hardware configuration. This study is centered around tuber measurement and its objectives are to i) identify ideal antenna array configurations, frequency, and pulse density; ii) develop novel processing techniques which leverage powerful computer technologies to provide highly accurate measurements of detected features; and iii) develop a cart system which is appropriate for agricultural fields and non-destructive sampling. Already, a 2 GHz multiarray antenna has been identified as an optimal system for tuber detection. Software and processing algorithm development is ongoing, but has already shown improvement over current software offerings. Recent field activity suggest that carts should be width adjustable and sport independent suspension systems to maintain antenna orientation.

  2. Tuberous sclerosis Anaesthetic considerations

    African Journals Online (AJOL)

    QuickSilver

    Communication with the patient may be difficult since mental retardation is common (about ... This visual impairment may be caused by retinal astrocytomas or choroid hamartomas which .... Affected first degree relative. Cardiac rhabdomyoma.

  3. Cognitive behavioral therapies and multiple sclerosis fatigue: A review of literature.

    Science.gov (United States)

    Chalah, Moussa A; Ayache, Samar S

    2018-03-30

    Patients with multiple sclerosis (MS) commonly suffer from fatigue, a multidimensional symptom with physical, cognitive and psychosocial components that can drastically alter the quality of life. Despite its debilitating nature, the current treatment options are limited by their modest efficacy and numerous side effects. Cognitive behavioral therapies (CBT) have been applied in MS patients and might be of help in relieving fatigue. This constitutes the main objective of the current review. Computerized databases (Medline/PubMed, Scopus) were consulted till January 2018, and a research was conducted according to PRISMA guidelines in order to identify original research articles published at any time in English and French languages on cognitive behavioral therapies and MS fatigue as a primary outcome. The following key terms were used: ('multiple sclerosis' OR 'MS') AND ('fatigue') AND ('cognitive behavioral therapy' OR 'CBT' OR 'cognitive therapy' OR 'CT' OR 'behavioral therapy' OR 'BT' OR 'psychotherapy'). Fourteen papers matched the above criteria (11 trials, 2 methods and 1 study addressing CBT mechanisms of action). CBT seems to have positive effects on MS fatigue. However, the onset and duration of effects varied across the studies. These data highlight the promising effects of CBT in MS fatigue. Admitting the limited number of studies, more protocols are needed before drawing any conclusion. Future works might benefit from combining CBT with emerging therapies such as non-invasive brain stimulation techniques which also yielded promising results in the setting of MS. This may help in long-term maintenance of fatigue relief. Copyright © 2018 Elsevier Ltd. All rights reserved.

  4. Pediatric Multiple Sclerosis: Genes, Environment, and a Comprehensive Therapeutic Approach.

    Science.gov (United States)

    Cappa, Ryan; Theroux, Liana; Brenton, J Nicholas

    2017-10-01

    Pediatric multiple sclerosis is an increasingly recognized and studied disorder that accounts for 3% to 10% of all patients with multiple sclerosis. The risk for pediatric multiple sclerosis is thought to reflect a complex interplay between environmental and genetic risk factors. Environmental exposures, including sunlight (ultraviolet radiation, vitamin D levels), infections (Epstein-Barr virus), passive smoking, and obesity, have been identified as potential risk factors in youth. Genetic predisposition contributes to the risk of multiple sclerosis, and the major histocompatibility complex on chromosome 6 makes the single largest contribution to susceptibility to multiple sclerosis. With the use of large-scale genome-wide association studies, other non-major histocompatibility complex alleles have been identified as independent risk factors for the disease. The bridge between environment and genes likely lies in the study of epigenetic processes, which are environmentally-influenced mechanisms through which gene expression may be modified. This article will review these topics to provide a framework for discussion of a comprehensive approach to counseling and ultimately treating the pediatric patient with multiple sclerosis. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Multiple hepatic angiolipomas: a case report and review of literature

    International Nuclear Information System (INIS)

    Strotzer, M.; Paetzel, C.; Feuerbach, S.

    1999-01-01

    Follow-up of two hepatic angiolipomas in a patient without evidence of tuberous sclerosis is reported. Initially, the lesions presented as homogenously enhancing masses, which were nearly isodense to normal liver tissue on plain CT scans. Focal nodular hyperplasia was assumed. One year later, fat was detected in the growing tumors and percutaneous core biopsy revealed hepatic angiolipomas. Natural history of these rare lesions is unknown, and this is to the best of our knowledge the first observation of fatty metamorphosis in such a benign, mesenchymal hepatic neoplasm. (orig.)

  6. Inspiratory muscle training in patients with Amyotrophic Lateral Sclerosis: A systematic review.

    Science.gov (United States)

    Eidenberger, Margit; Nowotny, Silvia

    2014-01-01

    Amyotrophic Lateral Sclerosis is a neurodegenerative disease with rapid involvement of the inspiratory muscles, leading to respiratory insufficiency. Death often occurs by aspiration and pneumonia. Endurance- and strength therapy within ALS are discussed controversially. To review the current literature to assess the efficacy of inspiratory muscle training for ALS. Systematic review, using databases as PubMed, PEDro, Cochrane and Google Scholar. Inspiratory muscle training vs. sham training or inspiratory muscle training alone. Inspiratory muscle strength, dyspnoea, quality of life and survival time. Four studies could be included in this review, two RCT's, one pre-experimental study and one with a historical control group. In total 73 patients underwent inspiratory muscle training. Studies varied in onset of the training, the training protocol and the outcomes measured. At time, there is limited evidence that inspiratory muscle training leads to strengthening of inspiratory muscles in ALS. Improvements made were minor, in only a few parameters and also in control groups. Survival time was significantly longer in the experimental group in one study. Interesting suppositions (diaphragm training vs. other IM training, improvement of chest wall and lung compliance) need to be examined in robustly designed future trials, defining exact therapeutic windows and interventions.

  7. Metaphyseal sclerosis in patients with chronic renal failure

    Energy Technology Data Exchange (ETDEWEB)

    Young, W.; Sevcik, M.; Tallroth, K. (Michigan Univ., Ann Arbor (USA). Dept. of Radiology)

    1991-04-01

    We reviewed radiographs of the hand and wrists of 33 patients with immature skeletons and chronic renal disease. Various radiographic manifestations of renal osteodystrophy were seen, including osteopenia in 23 patients (70%), subperiosteal resorption in 20 (61%), distal tuft resorption in 14 (42%), sclerosis of vertebral bodies in 2 (6%), and soft-tissue calcification in 1 (3%). We also noted that 13 patients (39%) exhibited metaphyseal sclerosis adjacent to the growth plates. Five of these 13 showed persistent sclerosis years after the growth plates had fused. None of the patients showed other radiographic changes of rickets, and there was no correlation between the serum calcium, phosphorus, or aluminum levels and the presence of metaphyseal sclerosis. Neiter was there any association with the underlying cause of renal failure, method of treatment, presence of a transplant, or type of dialysis. We view this finding as another manifestation of renal osteodystrophy. The importance of distinguishing it from other sclerotic lesions is discussed. (orig.).

  8. Metaphyseal sclerosis in patients with chronic renal failure

    International Nuclear Information System (INIS)

    Young, W.; Sevcik, M.; Tallroth, K.

    1991-01-01

    We reviewed radiographs of the hand and wrists of 33 patients with immature skeletons and chronic renal disease. Various radiographic manifestations of renal osteodystrophy were seen, including osteopenia in 23 patients (70%), subperiosteal resorption in 20 (61%), distal tuft resorption in 14 (42%), sclerosis of vertebral bodies in 2 (6%), and soft-tissue calcification in 1 (3%). We also noted that 13 patients (39%) exhibited metaphyseal sclerosis adjacent to the growth plates. Five of these 13 showed persistent sclerosis years after the growth plates had fused. None of the patients showed other radiographic changes of rickets, and there was no correlation between the serum calcium, phosphorus, or aluminum levels and the presence of metaphyseal sclerosis. Neiter was there any association with the underlying cause of renal failure, method of treatment, presence of a transplant, or type of dialysis. We view this finding as another manifestation of renal osteodystrophy. The importance of distinguishing it from other sclerotic lesions is discussed. (orig.)

  9. DEPDC5 as a potential therapeutic target for epilepsy.

    Science.gov (United States)

    Myers, Kenneth A; Scheffer, Ingrid E

    2017-06-01

    Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex. GATOR1 is a recently identified modulator of mechanistic target of rapamycin (mTOR) activity. mTOR is a key regulator of cell proliferation and metabolism; disruption of the mTOR pathway is implicated in focal epilepsy, both acquired and genetic. Tuberous sclerosis is the prototypic mTOR genetic syndrome with epilepsy, however GATOR1 gene mutations have recently been shown to cause lesional and non-lesional focal epilepsy. Areas covered: This review summarizes the mTOR pathway, including regulators and downstream effectors, emphasizing recent developments in the understanding of the complex role of the GATOR1 complex. We review the epilepsy types associated with mTOR overactivity, including tuberous sclerosis, polyhydramnios megalencephaly symptomatic epilepsy, cortical dysplasia, non-lesional focal epilepsy and post-traumatic epilepsy. Currently available mTOR inhibitors are discussed, primarily rapamycin analogs and ATP competitive mTOR inhibitors. Expert opinion: DEPDC5 is an attractive therapeutic target in focal epilepsy, as effects of DEPDC5 agonists would likely be anti-epileptogenic and more selective than currently available mTOR inhibitors. Therapeutic effects might be synergistic with certain existing dietary therapies, including the ketogenic diet.

  10. Fusarium growth on culture media made of tissue juice from irradiated and unirradiated potato tubers

    International Nuclear Information System (INIS)

    Taczanowski, M.

    1994-01-01

    Fusarium Sulphureum Schlecht is one of the tuber pathogens causing potato storage disease knowing as dry rot. Because irradiation can disturb the tissue defence mechanism against the pathogen, it was decided to carry out experiments on influence of the treatment on subsequent tuber tissue reaction to a maceration process. The maceration as a physical stress was a substitute for the pathogen activity. Tubers of two potato varieties were tested: Mila -a resistant variety to Fusarium and Atol - susceptible one. Tubers of both varieties were irradiated with a dose of 105 kGy. Unirradiated tubers were taken as a control. A day after irradiation the cortex tissue was macerated using an ordinary rasper and the resulted tissue pulp was strained through medical gauze to obtain crude juice. The juice was clarified by centrifugation and then added to dissolved PDA. The volume ratio of juice to PDA was 1:1. The prepared media were dispensed into Petri dishes. Small pieces of the Fusarium culture were put on the surface of the medium at the centre of each Petri dish. Subsequent growth of the fungus was assessed by measurement of culture diameters every 24 hours. Linear functions of the Fusarium growth were obtained for Mila control and Atol control. In the case of Mila, the Fusarium found more favourable conditions for its growth in the presence of juice from irradiated tubers than from the control ones. Making the same comparison for Atol, no difference was detected. (author)

  11. Molecular and biochemical characterization of a potato collection with contrasting tuber carotenoid content.

    Directory of Open Access Journals (Sweden)

    Maria Sulli

    Full Text Available After wheat and rice, potato is the third most important staple food worldwide. A collection of ten tetraploid (Solanum tuberosum and diploid (S. phureja and S. chacoense genotypes with contrasting carotenoid content was subjected to molecular characterization with respect to candidate carotenoid loci and metabolic profiling using LC-HRMS. Irrespective of ploidy and taxonomy, tubers of these genotypes fell into three groups: yellow-fleshed, characterized by high levels of epoxy-xanthophylls and xanthophyll esters and by the presence of at least one copy of a dominant allele of the β-Carotene Hydroxylase 2 (CHY2 gene; white-fleshed, characterized by low carotenoid levels and by the presence of recessive chy2 alleles; and orange-fleshed, characterized by high levels of zeaxanthin but low levels of xanthophyll esters, and homozygosity for a Zeaxanthin Epoxidase (ZEP recessive allele. Novel CHY2 and ZEP alleles were identified in the collection. Multivariate analysis identified several groups of co-regulated non-polar compounds, and resulted in the grouping of the genotypes according to flesh color, suggesting that extensive cross-talk exists between the carotenoid pathway and other metabolite pathways in tubers. Postharvest traits like tuber dormancy and weight loss during storage showed little correlation with tuber carotenoid content, with the exception of zeaxanthin and its esters. Other tuber metabolites, such as glucose, monogalactosyldiacyglycerol (a glycolipid, or suberin precursors, showed instead significant correlations with both traits.

  12. Molecular and biochemical characterization of a potato collection with contrasting tuber carotenoid content

    Science.gov (United States)

    Sulli, Maria; Mandolino, Giuseppe; Sturaro, Monica; Onofri, Chiara; Diretto, Gianfranco; Parisi, Bruno

    2017-01-01

    After wheat and rice, potato is the third most important staple food worldwide. A collection of ten tetraploid (Solanum tuberosum) and diploid (S. phureja and S. chacoense) genotypes with contrasting carotenoid content was subjected to molecular characterization with respect to candidate carotenoid loci and metabolic profiling using LC-HRMS. Irrespective of ploidy and taxonomy, tubers of these genotypes fell into three groups: yellow-fleshed, characterized by high levels of epoxy-xanthophylls and xanthophyll esters and by the presence of at least one copy of a dominant allele of the β-Carotene Hydroxylase 2 (CHY2) gene; white-fleshed, characterized by low carotenoid levels and by the presence of recessive chy2 alleles; and orange-fleshed, characterized by high levels of zeaxanthin but low levels of xanthophyll esters, and homozygosity for a Zeaxanthin Epoxidase (ZEP) recessive allele. Novel CHY2 and ZEP alleles were identified in the collection. Multivariate analysis identified several groups of co-regulated non-polar compounds, and resulted in the grouping of the genotypes according to flesh color, suggesting that extensive cross-talk exists between the carotenoid pathway and other metabolite pathways in tubers. Postharvest traits like tuber dormancy and weight loss during storage showed little correlation with tuber carotenoid content, with the exception of zeaxanthin and its esters. Other tuber metabolites, such as glucose, monogalactosyldiacyglycerol (a glycolipid), or suberin precursors, showed instead significant correlations with both traits. PMID:28898255

  13. Tomography patterns of lung disease in systemic sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Bastos, Andrea de Lima; Correa, Ricardo de Amorim; Ferreira, Gilda Aparecida, E-mail: andrealb@ufmg.br [Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG (Brazil). Faculdade de Medicina

    2016-09-15

    Currently, lung impairment is the leading factor responsible for the morbidity and mortality associated with systemic sclerosis. Therefore, the recognition of the various tomography patterns becomes decisive in the clinical management of these patients. In high-resolution computed tomography studies, the most common pattern is that of nonspecific interstitial pneumonia. However, there are other forms of lung involvement that must also be recognized. The aim of this study was to review the literature on the main changes resulting from pulmonary involvement in systemic sclerosis and the corresponding radiological findings, considering the current classification of interstitial diseases. We searched the Medline (PubMed), Lilacs, and SciELO databases in order to select articles related to pulmonary changes in systemic sclerosis and published in English between 2000 and 2015. The pulmonary changes seen on computed tomography in systemic sclerosis are varied and are divided into three main categories: interstitial, alveolar, and vascular. Interstitial changes constitute the most common type of pulmonary involvement in systemic sclerosis. However, alveolar and vascular manifestations must also be recognized and considered in the presence of atypical clinical presentations and inadequate treatment responses. (author)

  14. Tomography patterns of lung disease in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    Andréa de Lima Bastos

    Full Text Available Abstract Currently, lung impairment is the leading factor responsible for the morbidity and mortality associated with systemic sclerosis. Therefore, the recognition of the various tomography patterns becomes decisive in the clinical management of these patients. In high-resolution computed tomography studies, the most common pattern is that of nonspecific interstitial pneumonia. However, there are other forms of lung involvement that must also be recognized. The aim of this study was to review the literature on the main changes resulting from pulmonary involvement in systemic sclerosis and the corresponding radiological findings, considering the current classification of interstitial diseases. We searched the Medline (PubMed, Lilacs, and SciELO databases in order to select articles related to pulmonary changes in systemic sclerosis and published in English between 2000 and 2015. The pulmonary changes seen on computed tomography in systemic sclerosis are varied and are divided into three main categories: interstitial, alveolar, and vascular. Interstitial changes constitute the most common type of pulmonary involvement in systemic sclerosis. However, alveolar and vascular manifestations must also be recognized and considered in the presence of atypical clinical presentations and inadequate treatment responses.

  15. Tomography patterns of lung disease in systemic sclerosis

    International Nuclear Information System (INIS)

    Bastos, Andrea de Lima; Correa, Ricardo de Amorim; Ferreira, Gilda Aparecida

    2016-01-01

    Currently, lung impairment is the leading factor responsible for the morbidity and mortality associated with systemic sclerosis. Therefore, the recognition of the various tomography patterns becomes decisive in the clinical management of these patients. In high-resolution computed tomography studies, the most common pattern is that of nonspecific interstitial pneumonia. However, there are other forms of lung involvement that must also be recognized. The aim of this study was to review the literature on the main changes resulting from pulmonary involvement in systemic sclerosis and the corresponding radiological findings, considering the current classification of interstitial diseases. We searched the Medline (PubMed), Lilacs, and SciELO databases in order to select articles related to pulmonary changes in systemic sclerosis and published in English between 2000 and 2015. The pulmonary changes seen on computed tomography in systemic sclerosis are varied and are divided into three main categories: interstitial, alveolar, and vascular. Interstitial changes constitute the most common type of pulmonary involvement in systemic sclerosis. However, alveolar and vascular manifestations must also be recognized and considered in the presence of atypical clinical presentations and inadequate treatment responses. (author)

  16. development of a motorized parboiled cassava tuber shredding

    African Journals Online (AJOL)

    2013-03-01

    Mar 1, 2013 ... erance to extreme ecological stress and sustainability to present farming and ... Higher capacity compared to traditional method of shredding cassava. 2. .... weight of uncompleted shredded tuber, at different steaming time at a ...

  17. Detection of Irradiated Tubers (Ginger and Potato) Using Photostimulated Luminescence Technique (PSL)

    International Nuclear Information System (INIS)

    Ros Anita Ahmad Ramli; Zainon Othman; Wan Saffiey Wan Abdullah; Foziah Ali; Zainab Harun

    2016-01-01

    Photo-stimulated luminescence (PSL) measurement was conducted to detect irradiated gingers (Zingiber officinale Roscoe) and potatoes (Solanum tuberosum) after dark storage for 1 week, 3 and 6 months. Using screening and calibrated PSL, all the samples were correctly distinguished between non-irradiated and irradiated samples at doses 50, 150 and 500 Gy based on photon count values. The PSL signal stability of irradiated samples (150 and 500 Gy) appeared to fade upon 6 months storage but remained well above upper threshold values of 5000 photon counts/ 60 s (PCs) for irradiated gingers and potatoes. The PCs of irradiated tubers showed a general trend of increase with the increase in doses up to 500 Gy. Samples showed highest intensity after irradiation. The differences in intensity to irradiation are possibly attributed to the varying quantity and quality of silicate minerals present in each tuber sample. Tubers irradiated at doses higher than 150 Gy, showed sensitivity index ratio of less than 10. Sensitivity Index was suggested for irradiated samples at doses slightly above 150 Gy. Irradiated samples at doses less than 150 Gy should be subjected for further investigation using thermoluminescence (TL) analysis. The results of this study provide a useful database on the applicability of PSL technique for the detection of Malaysian irradiated tubers. (author)

  18. Effectiveness and user experience of web-based interventions for increasing physical activity in people with multiple sclerosis: a comprehensive systematic review protocol.

    Science.gov (United States)

    Dennett, Rachel; Coulter, Elaine; Paul, Lorna; Freeman, Jennifer

    2016-11-01

    The overall aim of this comprehensive systematic review is to explore the use of web-based interventions for increasing physical activity levels in people with a diagnosis of multiple sclerosis (MS).The quantitative objectives are to identify:The qualitative objectives are to.

  19. Caregiver burden in amyotrophic lateral sclerosis : A systematic review

    NARCIS (Netherlands)

    de Wit, Jessica; Bakker, Leonhard A; van Groenestijn, Annerieke C; van den Berg, Leonard H; Schröder, Carin D; Visser-Meily, Johanna Ma; Beelen, Anita

    BACKGROUND: Informal caregivers of patients with amyotrophic lateral sclerosis experience increased levels of caregiver burden as the disease progresses. Insight in the factors related to caregiver burden is needed in order to develop supportive interventions. AIM: To evaluate the evidence on

  20. Use of tocilizumab in systemic sclerosis: A brief literature review.

    Science.gov (United States)

    Fernández-Codina, A; Fernández-Fernández, J; Fernández-Pantiga, A

    2018-03-27

    The available treatments for systemic sclerosis (SS) have limited effectiveness. Treatment with tocilizumab (TCZ), a biological drug that inhibits interleukin 6 (IL-6), has recently been proposed. In this study, we conducted a literature review to assess the safety and efficacy of TCZ in SS. We found 52 articles, 10 of which we selected after evaluating the articles. In a randomised clinical trial, TCZ showed a nonsignificant improvement in the degree of skin induration, while another observational study showed neutral results. In this same clinical trial, the functional respiratory parameters showed a certain degree of stabilization. The safety profile of TCZ is acceptable; however, the current evidence regarding treatment of SS with TCZ is highly limited, although the drug could have a beneficial effect in skin disorder. New clinical trials are needed to determine the usefulness of TCZ in SS. Copyright © 2018 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  1. Identification and Pathogenicity of Phytopathogenic Bacteria Associated with Soft Rot Disease of Girasole Tuber

    Directory of Open Access Journals (Sweden)

    Mamdoh Ewis ISMAIL

    2012-02-01

    Full Text Available During 2010-2011 growing seasons six bacterial isolates were separated from naturally infected girasole plants tubers (Helianthus tuberosus L. cv. �Balady�, showing soft rot, collected from experimental Farm of the Faculty of Agriculture, in El-Minia University, Egypt. Pathogenicity tests showed various virulence for the bacteria isolated from girasole tubers, found pathogenic. These organisms were characterized as rod-shaped, Gram negative, ?-methyl-d-glucoside medium, reducing substances from sucrose, phos, phatase activity and deep cavities on pectate medium. Otherwise, diagnostic tests suggested that the pathogen was Erwinia carotovora ssp. carotovora. The isolated bacteria caused soft rot of wounded tubers when inoculated into tissues. The bacterial isolates were compared for their degree of pathogenicity as well as for differences in specific symptoms, induced in different hosts. The tested isolates could infect several host ranges, such as fruits of apricot, apple, olive, lemon, squash, eggplant and potato tubers, bulbs and garlic and onion cloves, roots radish, carrot, sweet potato and rape. On the other hand, no symptoms were exhibited on pods of bean and cowpea, faba bean, fruits of pepper and tomato. The extracts of experimentally diseased girasole tubers were active in pectinase and also in caboxymethyl cellulose at pH 6 compared to enzyme activities in healthy tissues. Also, the isolated bacteria increased the total and reducing sugars in infected tissues.

  2. Validation of candidate gene markers for marker-assisted selection of potato cultivars with improved tuber quality.

    Science.gov (United States)

    Li, Li; Tacke, Eckhard; Hofferbert, Hans-Reinhardt; Lübeck, Jens; Strahwald, Josef; Draffehn, Astrid M; Walkemeier, Birgit; Gebhardt, Christiane

    2013-04-01

    Tuber yield, starch content, starch yield and chip color are complex traits that are important for industrial uses and food processing of potato. Chip color depends on the quantity of reducing sugars glucose and fructose in the tubers, which are generated by starch degradation. Reducing sugars accumulate when tubers are stored at low temperatures. Early and efficient selection of cultivars with superior yield, starch yield and chip color is hampered by the fact that reliable phenotypic selection requires multiple year and location trials. Application of DNA-based markers early in the breeding cycle, which are diagnostic for superior alleles of genes that control natural variation of tuber quality, will reduce the number of clones to be evaluated in field trials. Association mapping using genes functional in carbohydrate metabolism as markers has discovered alleles of invertases and starch phosphorylases that are associated with tuber quality traits. Here, we report on new DNA variants at loci encoding ADP-glucose pyrophosphorylase and the invertase Pain-1, which are associated with positive or negative effect with chip color, tuber starch content and starch yield. Marker-assisted selection (MAS) and marker validation were performed in tetraploid breeding populations, using various combinations of 11 allele-specific markers associated with tuber quality traits. To facilitate MAS, user-friendly PCR assays were developed for specific candidate gene alleles. In a multi-parental population of advanced breeding clones, genotypes were selected for having different combinations of five positive and the corresponding negative marker alleles. Genotypes combining five positive marker alleles performed on average better than genotypes with four negative alleles and one positive allele. When tested individually, seven of eight markers showed an effect on at least one quality trait. The direction of effect was as expected. Combinations of two to three marker alleles were

  3. Disease-modifying treatments for early and advanced multiple sclerosis: a new treatment paradigm.

    Science.gov (United States)

    Giovannoni, Gavin

    2018-06-01

    The treatment of multiple sclerosis is evolving rapidly with 11 classes of disease-modifying therapies (DMTs). This article provides an overview of a new classification system for DMTs and treatment paradigm for using these DMTs effectively and safely. A summary of research into the use of more active approaches to early and effective treatment of multiple sclerosis with defined treatment targets of no evident disease activity (NEDA). New insights are discussed that is allowing the field to begin to tackle more advanced multiple sclerosis, including people with multiple sclerosis using wheelchairs. However, the need to modify expectations of what can be achieved in more advanced multiple sclerosis are discussed; in particular, the focus on neuronal systems with reserve capacity, for example, upper limb, bulbar and visual function. The review describes a new more active way of managing multiple sclerosis and concludes with a call to action in solving the problem of slow adoption of innovations and the global problem of untreated, or undertreated, multiple sclerosis.

  4. ESCLEROSIS TUBEROSA ASOCIADA A SÍNDROME NEFRÓTICO Y FALLA RENAL AGUDA

    Directory of Open Access Journals (Sweden)

    Gabriela Santos Revilla

    2014-03-01

    Full Text Available The tuberous sclerosis complex is a phakomatosis, characterized by cutaneous lesions, epilepsy and mental retardation; woth variable affectation in brain, kidneys, heart and other organs. With dominant autosomic character, there are between 60 to 70% de novo mutations. Renal lesions can be identified in up to 57.5% of patients We report the case of a 20 years old male patient from the Hospital Nacional Arzobispo Loayza. He presents cuteanousangiofibroma, Shegreen patches, subependymal calcifications, renal angiomyolipomas and mild metal retardation; along with the diverse forms of clinical-pathologic presentations of tuberous sclerosis complex.

  5. Carbohydrates and gibberellins relationship in potato tuberization

    Czech Academy of Sciences Publication Activity Database

    Ševčíková, H.; Mašková, P.; Tarkowská, Danuše; Mašek, T.; Lipavská, H.

    2017-01-01

    Roč. 214, JUL (2017), s. 53-63 ISSN 0176-1617 R&D Projects: GA ČR GA14-34792S Institutional support: RVO:61389030 Keywords : Carbohydrate distribution * Gibberellin * Photoautotrophic cultivation * Potato * Tuberization Subject RIV: CB - Analytical Chemistry, Separation OBOR OECD: Plant sciences, botany Impact factor: 3.121, year: 2016

  6. Genotype by Environment Effects on Potato Mini-Tuber Seed Production in an Aeroponics System

    Directory of Open Access Journals (Sweden)

    Julián F. Mateus-Rodriguez

    2014-11-01

    Full Text Available In order to evaluate the environmental effect on plant development and mini-tuber production of a diverse group of potato genotypes grown under an aeroponic system, a G × E interaction experiment was carried out in greenhouses located at CIP’s experimental stations in La Molina (Lima and Huancayo (Junín. Five contrasting environments were set-up and evaluated. A combined Analysis of Variance was performed for the variables “days to tuber set”, “days to senescence” and “plant height”. An Additive Main Effects and Multiplicative Interaction (AMMI Analysis was performed for yield variables: mini-tuber “weight” and “number of mini-tubers” per plant. There was a high variation in all the responses to the treatments. “Days to tuber set” was influenced by genetic responses, temperature and greenhouse Photosynthetically Active Radiation intensity. Considerable increases in the length of the vegetative cycle and plant height were recorded for all genotypes, and these were particularly notable in the warmer coastal environments. AMMI analysis showed that yield variables were primarily influenced by the genotypic effect followed by the genotype by environment interaction effect. The Venturana variety (T2 was the best performing genotype with a total average mini-tuber “weight” of 644 g per plant while the Chucmarina variety (T1 performed best for the variable “number of mini-tubers” with an overall average of 60.2 mini-tubers per plant. Both showed stability across different environments for these variables. The advanced clones T3 (395434.1, T5 (397077.16 and T6 (397073.16 showed stability for yield variables, but their performance was below the overall average of the trial. It is recommended that the environment and management should ideally be tailored to the genotype as this will result in significant yield gains.

  7. The enigma of multiple sclerosis: inflammation and neurodegeneration cause heterogeneous dysfunction and damage

    DEFF Research Database (Denmark)

    Owens, Trevor

    2003-01-01

    progression correlate with axonal damage, and that brain atrophy resulting from axonal loss is a feature of early multiple sclerosis, and is not restricted to the secondary progressive forms of the disease. Inflammatory mediators (CD8 T cells and antibodies) are implicated in axonal damage, and treatment...... cells for oligodendrocytes. SUMMARY: Oligodendrocyte precursors are abundant in multiple sclerosis lesions, but fail to remyelinate. Oligodendrocyte growth and regeneration are probably compromised by the action of growth inhibitory signals and lack of growth stimuli. Inflammatory cells and mediators......PURPOSE OF REVIEW: The demyelinating disease multiple sclerosis has an autoimmune inflammatory component, which has dominated the description of multiple sclerosis. A degenerative component to multiple sclerosis was always apparent, but was underappreciated until recently. Recent work has brought...

  8. Characteristic of Tuber spp. localities in natural stands with emphasis on plant species composition

    Directory of Open Access Journals (Sweden)

    Dorota Hilszczanska

    2014-12-01

    Full Text Available Fungi belonging to the genus Tuber establish ectomycorrhizal symbioses with shrubs, trees and some herbaceous plants. Some Tuber species, for example, T. melanosporum, T. magnatum, T. aestivum are economically important because they produce edible fruiting bodies with a distinctive taste and flavor. Our concept of truffle ecophysiology is dominated by the symbiosis with deciduous hosts, such as: Quercus spp., Fagus sylvatica, Castanea sativa, Corylus spp., Carpinus betulus, Ostrya carpinifolia, Betula verrucosa, and Tilia spp., whereas the real range of hosts in nature seems to be much wider. Moreover, interactions between Tuber mycelium and plant community could be more complex than just forming the ectomycorrhizal symbiosis. Here we show our inventory of plants and soils at six truffle’ sites in the southern part of Poland (Nida Basin and Przedbórz Upland. The aim of this study was to widen our understanding of ecological factors affecting Tuber spp., in the context of pioneering stage of research on truffles in Poland. We hope our findings will have a practical application and will help to choose suitable soils for truffle orchards.

  9. Hippocampal sclerosis in children younger than 2 years

    Energy Technology Data Exchange (ETDEWEB)

    Kadom, Nadja [Children' s National Medical Center, Department of Diagnostic Imaging and Radiology, Washington, DC (United States); Tsuchida, Tammy; Gaillard, William D. [Children' s National Medical Center, Department of Neurology, Washington, DC (United States)

    2011-10-15

    Hippocampal sclerosis (HS) is rarely considered as a diagnosis in children younger than 2 years. To describe imaging features in conjunction with clinical information in patients with hippocampal sclerosis who are younger than 2 years. We retrospectively reviewed MR brain imaging and clinical information in five children in whom the diagnosis of HS was made both clinically and by MRI prior to 2 years of age. Imaging features establishing the diagnosis of hippocampal sclerosis were bright T2 signal and volume loss, while the internal architecture of the hippocampal formation was preserved in almost all children. Clinically, all children had an infectious trigger. It is necessary for radiologists to consider HS in children with certain clinical features to plan an MRI protocol that is appropriate for detection of hippocampal pathology. (orig.)

  10. Hippocampal sclerosis in children younger than 2 years

    International Nuclear Information System (INIS)

    Kadom, Nadja; Tsuchida, Tammy; Gaillard, William D.

    2011-01-01

    Hippocampal sclerosis (HS) is rarely considered as a diagnosis in children younger than 2 years. To describe imaging features in conjunction with clinical information in patients with hippocampal sclerosis who are younger than 2 years. We retrospectively reviewed MR brain imaging and clinical information in five children in whom the diagnosis of HS was made both clinically and by MRI prior to 2 years of age. Imaging features establishing the diagnosis of hippocampal sclerosis were bright T2 signal and volume loss, while the internal architecture of the hippocampal formation was preserved in almost all children. Clinically, all children had an infectious trigger. It is necessary for radiologists to consider HS in children with certain clinical features to plan an MRI protocol that is appropriate for detection of hippocampal pathology. (orig.)

  11. Distribution of radionuclides in potato tubers. Implication for dose assessments

    International Nuclear Information System (INIS)

    Green, N.; Wilkins, B.T.; Poultney, S.

    1997-01-01

    A study of the distribution of 137 Cs, 90 Sr, Pu and Am in potato tubers has been carried out. Cesium-137 was essentially uniformly distributed throughout the tuber, whereas up to about 50% of the 90 Sr activity was found in the peel. Results for actinides indicated that most of the activity would be found in the peel and of this more than half would be located in the thin outermost skin. When account is taken of the form in which potatoes are consumed in the UK, the values of soil-plant transfer factors currently assumed in the NRPB model FARMLAND are reasonable for general assessment purposes. (author)

  12. Review: Multiple sclerosis and physical exercise: recommendations for the application of resistance-, endurance- and combined training

    DEFF Research Database (Denmark)

    Dalgas, U; Stenager, E; Ingemann-Hansen, T

    2008-01-01

    This review summarizes the existing knowledge regarding the effects of physical exercise in patients suffering from multiple sclerosis (MS). Furthermore, recommendations are given regarding exercise prescription for MS patients and for future study directions. Previously, MS patients were advised...... not to participate in physical exercise. During recent years, it has been increasingly acknowledged that exercise benefits MS patients. The requirement for exercise in MS patients is emphasized by their physiological profile, which probably reflects both the effects of the disease per se and the reversible effects...

  13. [Multiple sclerosis in literature, cinema and television].

    Science.gov (United States)

    Collado-Vazquez, S; Carrillo, J M; Cano-de-la-Cuerda, R

    2016-12-16

    Today, the care of patients with multiple sclerosis and those around them represents a clinical and therapeutic challenge for healthcare professionals. The aim of this study is to analyse the appearance of multiple sclerosis in literature, cinema and television, and to reflect upon the image it has in these media. Several representative works that have addressed multiple sclerosis were reviewed, and many of them were seen to offer a very true-to-life vision of the disease. Likewise, a review was also conducted of the most relevant films and TV series that, on occasions, offer the general public a close look at the impact of the disease on patients or relatives, although they are sometimes somewhat exaggerated for the sake of increased dramatic effect and offer a slightly distorted view of reality. Literature largely reflects the real epidemiology, the symptoms and development of the disease, while less attention seems to be given to the diagnostic and therapeutic options open to patients. Cinema and television have offered a correct image but sometimes with the addition of more dramatic effects. It is important for literature, cinema and television to offer a realistic view of this neurological disease so as to make it better known among the public and to help lessen the stigma attached to it.

  14. Relation between the tritium in continuous atmospheric release and the tritium contents of fruits and tubers.

    Science.gov (United States)

    Korolevych, V Y; Kim, S B

    2013-04-01

    Concentrations of organically bound tritium (OBT) and tissue-free water tritium (TFWT, also referred to as HTO) in fruits and tubers were measured at a garden plot in the vicinity of the source of chronic airborne tritium emissions during the 2008, 2010, and 2011 growing seasons. A continuous record of HTO concentration in the air moisture was reconstructed from the continuous record of Ar-41 ambient gamma radiation, as well as from frequent measurements of air HTO by active samplers at the garden plot and Ar-41 and air HTO monitoring data from the same sector. Performed measurements were used for testing the modified Specific Activity (SA) model based on the assumption that the average air HTO during the pod-filling period provides an appropriate basis for estimating the levels of OBT present in pods, fruits and tubers. It is established that the relationship between the OBT of fruits and tubers and the average air HTO from a 15-20 day wide window centred at the peak of the pod-filling period is consistent throughout the three analysed years, and could be expressed by the fruit or tuber's OBT to air-HTO ratio of 0.93 ± 0.21. For all three years, the concentration of HTO in fruits and tubers was found to be related to levels of HTO in the air, as averaged within a 3-day pre-harvest window. The variability in the ratio of plant HTO to air HTO appears to be three times greater than that for the OBT of the fruits and tubers. It is concluded that the OBT of fruits and tubers adequately follows an empirical relationship based on the average level of air HTO from the pod-filling window, and therefore is clearly in line with the modified SA approach. Crown Copyright © 2012. Published by Elsevier Ltd. All rights reserved.

  15. Is Hypovitaminosis D One of the Environmental Risk Factors for Multiple Sclerosis?

    Science.gov (United States)

    Pierrot-Deseilligny, Charles; Souberbielle, Jean-Claude

    2010-01-01

    The role of hypovitaminosis D as a possible risk factor for multiple sclerosis is reviewed. First, it is emphasized that hypovitaminosis D could be only one of the risk factors for multiple sclerosis and that numerous other environmental and genetic risk factors appear to interact and combine to trigger the disease. Secondly, the classical…

  16. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2010-11-03

    Background The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed. Method A Medline literature review identified all original articles reporting a rate of FALS. Studies were grouped according to the type of data presented and examined for sources of case ascertainment. A systematic review and meta-analysis of reported rates of FALS was then conducted to facilitate comparison between studies and calculate a pooled rate of FALS. Results 38 papers reported a rate of FALS. Thirty-three papers were included in analysis and the rate of FALS for all studies was 4.6% (95% CI 3.9% to 5.5%). Restricting the analysis to prospective population based registry data revealed a rate of 5.1% (95% CI 4.1% to 6.1%). The incidence of FALS was lower in southern Europe. There was no correlation between rate of FALS and reported SOD1 mutation rates. Conclusion The rate of FALS among prospective population based registries is 5.1% (CI 4.1 to 6.1%), and not 10% as is often stated. Further detailed prospective population based studies of familial ALS are required to confirm this rate.

  17. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2012-02-01

    BACKGROUND: The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed. METHOD: A Medline literature review identified all original articles reporting a rate of FALS. Studies were grouped according to the type of data presented and examined for sources of case ascertainment. A systematic review and meta-analysis of reported rates of FALS was then conducted to facilitate comparison between studies and calculate a pooled rate of FALS. RESULTS: 38 papers reported a rate of FALS. Thirty-three papers were included in analysis and the rate of FALS for all studies was 4.6% (95% CI 3.9% to 5.5%). Restricting the analysis to prospective population based registry data revealed a rate of 5.1% (95% CI 4.1% to 6.1%). The incidence of FALS was lower in southern Europe. There was no correlation between rate of FALS and reported SOD1 mutation rates. CONCLUSION: The rate of FALS among prospective population based registries is 5.1% (CI 4.1 to 6.1%), and not 10% as is often stated. Further detailed prospective population based studies of familial ALS are required to confirm this rate.

  18. Amyotrophic lateral sclerosis mimic syndromes.

    Science.gov (United States)

    Ghasemi, Majid

    2016-04-03

    Amyotrophic lateral sclerosis (ALS) misdiagnosis has many broad implications for the patient and the neurologist. Potentially curative treatments exist for certain ALS mimic syndromes, but delay in starting these therapies may have an unfavorable effect on outcome. Hence, it is important to exclude similar conditions. In this review, we discuss some of the important mimics of ALS.

  19. Multiple Sclerosis Epidemiology in East Asia, South East Asia and South Asia: A Systematic Review.

    Science.gov (United States)

    Eskandarieh, Sharareh; Heydarpour, Pouria; Minagar, Alireza; Pourmand, Shadi; Sahraian, Mohammad Ali

    2016-01-01

    Multiple sclerosis (MS) is one of the most common chronic immune-mediated diseases of the human central nervous system and an important cause of non-traumatic neurologic disability among young population in several countries. Recent reports from East Asia, South East Asia and South Asia have proposed a low to moderate prevalence of MS in these countries. A literature review search was carried out in December 2014 in Medline, Embase, Scopus and Cochrane library to recover original population-based studies on MS epidemiology in East Asia, South East Asia and South Asia countries published between January 1, 1950 and December 30, 2014. We intended search strategies using the key words: multiple sclerosis, prevalence, incidence and epidemiology. Based on our inclusion criteria, 68 epidemiologic studies were included in this systematic review. The most extensively used diagnostic criteria in the studies were McDonald's criteria. Most studies were performed in a multi-center hospital setting. The female to male ratio varied and ranged from 0.7 in India to 9.0 in China. The mean age at disease onset ranged from the lowest age of 25.3 in Iran to the highest age of 46.4 in China. MS prevalence ranged from 0.77 in 100,000 populations in Hong Kong (1999) to 85.80 in 100,000 in Iran (2013). Advances in MS registries around the globe allow nationwide population-based studies and will allow worldly comparisons between the prevalence and incidence in different regions that are provided to monitor estimation. © 2016 S. Karger AG, Basel.

  20. Coexistence of multiple sclerosis and ankylosing spondylitis: Report of four cases from Russia and review of the literature.

    Science.gov (United States)

    Fominykh, Vera; Shevtsova, Tatyana; Arzumanian, Narine; Brylev, Lev

    2017-10-01

    Multiple sclerosis is a chronic demyelinating disorder of the central nervous system. There are many cases of multiple sclerosis - like syndrome and demyelinating disorders in systemic lupus erythematosus, Sjogren disease, Behcet disease and other autoimmune conditions. Coexistence of ankylosing spondylitis and multiple sclerosis usually is rare but in this article we report 4 Russian patients with concomitant multiple sclerosis and ankylosing spondylitis diseases. None of these patients received anti-tumor necrosis factor alpha therapy prior to diagnosis of multiple sclerosis. Pathogenesis, diagnostic and treatment challenges are discussed. Copyright © 2017 Elsevier Ltd. All rights reserved.

  1. Phosphorylation of formate dehydrogenase in potato tuber mitochondria

    DEFF Research Database (Denmark)

    Bykova, N.V.; Stensballe, A.; Egsgaard, H.

    2003-01-01

    Two highly phosphorylated proteins were detected after two-dimensional (blue native/SDS-PAGE) gel electrophoretic separation of the matrix fraction isolated from potato tuber mitochondria. These two phosphoproteins were identified by mass spectrometry as formate dehydrogenase (FDH) and the E1alpha...

  2. Systematic review of depression in patients with multiple sclerosis and its relationship to interferonβ treatment.

    Science.gov (United States)

    Alba Palé, Leila; León Caballero, Jordi; Samsó Buxareu, Berta; Salgado Serrano, Purificación; Pérez Solà, Víctor

    2017-10-01

    Multiple sclerosis is a chronic disease considered the major cause of neurological disability in young adults worldwide. While depression is considered a determinant factor of impaired quality of life and poorer prognosis among patients with multiple sclerosis, it is very often dismissed and undertreated by physicians. Depression has been related to treatment with some immunomodulatory drugs, such as IFNβ. Data from patients who committed suicide during the pivotal study of interferon used as a disease modifying treatment in multiple sclerosis support this association. Moreover, there is plenty of evidence of neuropsychiatric toxicity caused by the use of IFNα as a treatment for other medical conditions. Although this link still remains relatively unknown, the presence of warnings regarding the possible relationship between depression and IFNβ led to restriction in medical indications in these patients. The purpose of this paper is to try to understand the reasons for an increased prevalence in depression in multiple sclerosis and to examine the impact that IFNβ treatment has on their mood. We performed a literature search on MEDLINE and Google Scholar databases applying PRISMA guidelines for systematic reviews. Studies were included if the participants were diagnosed with MS and prescribed IFNβ as the main treatment. We excluded non-english and full-text non available papers, as well as the articles where mental health was assessed exclusively as a feature of quality of life. The sample includes articles from 1980 to 2014, although filtration by year of publication was not applied and contains data from IFNβ-1a and IFNβ-1b. The Cochrane Collaboration Tool assessing risk of bias was used to determine the quality of the studies. Ten studies met full criteria for inclusion and final data extraction. The articles have heterogeneity regarding the samples, the methodology used and the expression of the results. Only three studies support the evidence of a

  3. [Large vessels vasculopathy in systemic sclerosis].

    Science.gov (United States)

    Tejera Segura, Beatriz; Ferraz-Amaro, Iván

    2015-12-07

    Vasculopathy in systemic sclerosis is a severe, in many cases irreversible, manifestation that can lead to amputation. While the classical clinical manifestations of the disease have to do with the involvement of microcirculation, proximal vessels of upper and lower limbs can also be affected. This involvement of large vessels may be related to systemic sclerosis, vasculitis or atherosclerotic, and the differential diagnosis is not easy. To conduct a proper and early diagnosis, it is essential to start prompt appropriate treatment. In this review, we examine the involvement of large vessels in scleroderma, an understudied manifestation with important prognostic and therapeutic implications. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  4. Bioactive Potential of Andean Fruits, Seeds, and Tubers.

    Science.gov (United States)

    Campos, David; Chirinos, Rosana; Gálvez Ranilla, Lena; Pedreschi, Romina

    2018-01-01

    The Andes is considered the longest continental mountain range in the world. It covers 7000km long and about 200-700km wide and an average height of about 4000m. Very unique plant species are endemic of this area including fruits (e.g., lucuma, cherimoya, sweet pepino, sauco), roots and tubers (potatoes, sweet potatoes, yacón, chicuru, mashua, olluco, etc.), and seeds (quinoa, amaranth, tarwi, etc.). These crops have been used for centuries by the native population and relatively recently have gained the world attention due to the wide range of nutrients and/or phytochemicals they possess. In this chapter, main Andean fruits, seeds, and roots and tubers have been selected and detailed nutritional and functional information is provided. In addition, traditional and current uses are provided and their bioactive potential is reported based on published scientific literature. © 2018 Elsevier Inc. All rights reserved.

  5. The essential role of t cells in multiple sclerosis: A reappraisal

    Directory of Open Access Journals (Sweden)

    Cris S Constantinescu

    2014-04-01

    Full Text Available Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system in which destruction of myelin and nerve axons has been shown to be mediated by immune mechanisms. Although the focus of research has been traditionally on T cells as key mediators of the immunopathology, more recent efforts at understanding this complex disorder have been directed increasingly at other cellular and humoral elements of the immune response. This review is a reappraisal of the crucial role of T cells, in particular the CD4+ helper T-cell subset, in multiple sclerosis. Recent evidence is discussed underlining the predominant contribution of T-cell-associated genes to the genome-wide association study results of multiple sclerosis susceptibility, the loss of T-cell quiescence in the conversion from clinically isolated syndrome to clinically definite multiple sclerosis, and the fact that T cells represent the main target of effective immunomodulatory and immunosuppressive treatments in multiple sclerosis.

  6. Sequential extraction results in improved proteome profiling of medicinal plant Pinellia ternata tubers, which contain large amounts of high-abundance proteins.

    Directory of Open Access Journals (Sweden)

    Xiaolin Wu

    Full Text Available Pinellia ternata tuber is one of the well-known Chinese traditional medicines. In order to understand the pharmacological properties of tuber proteins, it is necessary to perform proteome analysis of P. ternata tubers. However, a few high-abundance proteins (HAPs, mainly mannose-binding lectin (agglutinin, exist in aggregates of various sizes in the tubers and seriously interfere with proteome profiling by two-dimensional electrophoresis (2-DE. Therefore, selective depletion of these HAPs is a prerequisite for enhanced proteome analysis of P. ternata tubers. Based on differential protein solubility, we developed a novel protocol involving two sequential extractions for depletion of some HAPs and prefractionation of tuber proteins prior to 2-DE. The first extraction using 10% acetic acid selectively extracted acid-soluble HAPs and the second extraction using the SDS-containing buffer extracted remaining acid-insoluble proteins. After application of the protocol, 2-DE profiles of P. ternata tuber proteins were greatly improved and more protein spots were detected, especially low-abundance proteins. Moreover, the subunit composition of P. ternata lectin was analyzed by electrophoresis. Native lectin consists of two hydrogen-bonded subunits (11 kDa and 25 kDa and the 11 kDa subunit was a glycoprotein. Subsequently, major HAPs in the tubers were analyzed by mass spectrometry, with nine protein spots being identified as lectin isoforms. The methodology was easy to perform and required no specialized apparatus. It would be useful for proteome analysis of other tuber plants of Araceae.

  7. Multiple sclerosis: current immunological aspects

    Directory of Open Access Journals (Sweden)

    Carlos Cuevas-García

    2017-02-01

    Full Text Available Multiple sclerosis is the most common inflammatory, chronic and degenerative condition of the central nervous system, and represents the first cause of disability in young adults. In Mexico, 11 to 20 out of every 100 000 people suffer from this disease. The causes of multiple sclerosis remain unknown, but several theories have been proposed on its origin: the interaction of environmental factors, viral infectious factors and genetic and immune susceptibility of each individual patient, which induce an autoimmune response and promote neuronal/axonal degeneration. In this review, the immune reaction main components and neurodegeneration present in multiple sclerosis are analyzed, as well as the inflammatory cascade associated with demyelination. Available treatments’ main purpose is to modulate aspects related to the adaptive immune response (B and T cells. The therapeutic challenge will be antigen-specific immune-tolerance induction, for example, with the use of tolerance protocols with peptides or DNA or nanoparticles vaccines. Future therapies should aim to control innate components (microglia, macrophages, astrocytes and to promote remyelination. To optimize the treatment, a combined therapeutic approach targeting the control of inflammatory and neurodegenerative components of the disease and monitoring of biomarkers will be necessary.

  8. Bacterial diversity on the surface of potato tubers in soil and the influence of the plant genotype.

    Science.gov (United States)

    Weinert, Nicole; Meincke, Remo; Gottwald, Christine; Heuer, Holger; Schloter, Michael; Berg, Gabriele; Smalla, Kornelia

    2010-10-01

    The surface of tubers might be a reservoir for bacteria that are disseminated with seed potatoes or that affect postharvest damage. The numbers of culturable bacteria and their antagonistic potential, as well as bacterial community fingerprints were analysed from tubers of seven field-grown potato genotypes, including two lines with tuber-accumulated zeaxanthin. The plant genotype significantly affected the number of culturable bacteria only at one field site. Zeaxanthin had no effect on the bacterial plate counts. In dual culture, 72 of 700 bacterial isolates inhibited at least one of the potato pathogens Rhizoctonia solani, Verticillium dahliae or Phytophthora infestans, 12 of them suppressing all three. Most of these antagonists were identified as Bacillus or Streptomyces. From tubers of two plant genotypes, including one zeaxanthin line, higher numbers of antagonists were isolated. Most antagonists showed glucanase, cellulase and protease activity, which could represent mechanisms for pathogen suppression. PCR-DGGE fingerprints of the 16S rRNA genes of bacterial communities from the tuber surfaces revealed that the potato genotype significantly affected the Pseudomonas community structure at one site. However, the genotypes showed nearly identical fingerprints for Bacteria, Actinobacteria, Alphaproteobacteria, Betaproteobacteria, Bacillus and Streptomycetaceae. In conclusion, tuber-associated bacteria were only weakly affected by the plant genotype. © 2010 Federation of European Microbiological Societies. Published by Blackwell Publishing Ltd. All rights reserved.

  9. Mapping Loci That Control Tuber and Foliar Symptoms Caused by PVY in Autotetraploid Potato (Solanum tuberosum L.).

    Science.gov (United States)

    da Silva, Washington L; Ingram, Jason; Hackett, Christine A; Coombs, Joseph J; Douches, David; Bryan, Glenn J; De Jong, Walter; Gray, Stewart

    2017-11-06

    Potato tuber necrotic ringspot disease (PTNRD) is a tuber deformity associated with infection by the tuber necrotic strain of Potato virus Y (PVY NTN ). PTNRD negatively impacts tuber quality and marketability, and poses a serious threat to seed and commercial potato production worldwide. PVY NTN symptoms differ in the cultivars Waneta and Pike: Waneta expresses severe PTNRD and foliar mosaic with vein and leaf necrosis, whereas Pike does not express PTNRD and mosaic is the only foliar symptom. To map loci that influence tuber and foliar symptoms, 236 F 1 progeny of a cross between Waneta and Pike were inoculated with PVY NTN isolate NY090029 and genotyped using 12,808 potato SNPs. Foliar symptom type and severity were monitored for 10 wk, while tubers were evaluated for PTNRD expression at harvest and again after 60 d in storage. Pairwise correlation analyses indicate a strong association between PTNRD and vein necrosis (τ = 0.4195). QTL analyses revealed major-effect QTL on chromosomes 4 and 5 for mosaic, 4 for PTNRD, and 5 for foliar necrosis symptoms. Locating QTL associated with PVY-related symptoms provides a foundation for breeders to develop markers that can be used to eliminate potato clones with undesirable phenotypes, e.g. , those likely to develop PTNRD or to be symptomless carriers of PVY. Copyright © 2017 Silva et al.

  10. Effect of processing on the alkaloids in Aconitum tubers by HPLC-TOF/MS

    Directory of Open Access Journals (Sweden)

    Min Liu

    2017-06-01

    Full Text Available According to the Chinese Pharmacopoeia 2015, only processed Aconitum tubers can be clinically applied, and the effect of processing is unclear. This research aimed to explore the effect of processing on cardiac efficacy of alkaloids in Aconitum tubers. First, the chemical ingredients in unprocessed and processed Aconitum tubers were identified and compared by using high performance liquid chromatography time-of-flight mass spectrometry (HPLC-TOF/MS and multivariate pattern recognition methods. Then the representative alkaloids in Aconitum tubers, aconitine, benzoylaconine, and aconine, which belong to diester-diterpenoid alkaloids, monoester-diterpenoid alkaloids, and amine-diterpenoid alkaloids, respectively, were selected for further validation of attenuated mechanism. Subsequent pharmacological experiments with aconitine, benzoylaconine, and aconine in SD rats were used for validate the effect of processing on cardiac functions. After processing the Aconitum tubers, it was found that the contents of diester-diterpenoid alkaloids were reduced, and those of monoester-diterpenoid alkaloids and amine-diterpenoid alkaloids were increased, suggesting that diester-diterpenoid alkaloids were transformed into monoester-diterpenoid alkaloids and amine-diterpenoid alkaloids. Through further decocting the aconitine in boiling water, it was confirmed that the three alkaloids could be progressively transformed. Pharmacological experiments with aconitine, benzoylaconine, and aconine in SD rats showed that aconitine at a dose of 0.01 mg/kg and aconine at a dose of 10 mg/kg enhanced the cardiac function, while benzoylaconine at a dose of 2 mg/kg weakened the cardiac function. The effect of processing is attributed to the transformation of the most toxic diester-diterpenoid alkaloids into less toxic monoester-diterpenoid alkaloids and amine-diterpenoid alkaloids.

  11. Tuber size variation and organ preformation constrain growth responses of a spring geophyte.

    Science.gov (United States)

    Werger, Marinus J A; Huber, Heidrun

    2006-03-01

    Functional responses to environmental variation do not only depend on the genetic potential of a species to express different trait values, but can also be limited by characteristics, such as the timing of organ (pre-) formation, aboveground longevity or the presence of a storage organ. In this experiment we tested to what degree variation in tuber size and organ preformation constrain the responsiveness to environmental quality and whether responsiveness is modified by the availability of stored resources by exposing the spring geophyte Bunium bulbocastanum to different light and nutrient regimes. Growth and biomass partitioning were affected by initial tuber size and resource availability. On average, tuber weight amounted to 60%, but never less than 30% of the total plant biomass. Initial tuber size, considered an estimate of the total carbon pool available at the onset of treatments, affected plant growth and reproduction throughout the experiment but had little effect on the responsiveness of plants to the treatments. The responsiveness was partly constrained by organ preformation: in the second year variation of leaf number was considerably larger than in the first year of the treatments. The results indicate that a spring geophyte with organ preformation has only limited possibilities to respond to short-term fluctuations of the environment, as all leaves and the inflorescence are preformed in the previous growing season and resources stored in tubers are predominantly used for survival during dormancy and are not invested into plastic adjustments to environmental quality. Such spring geophytes have only limited possibilities to buffer environmental variation. This explains their restriction to habitats characterized by predictable changes of the environmental conditions.

  12. Adoption of Root and Tuber Technologies Disseminated by the ...

    African Journals Online (AJOL)

    User

    Key words: Adoption and Diffusion, Root and Tuber Crops Technologies,. National Root Crops Research ... improved agricultural technologies has been associated with: higher earnings and lower poverty ..... F –statistics. 843.942***. 684.101 ...

  13. Enzymatic browning and after-cooking darkening of Jerusalem artichoke tubers (Helianthus tuberosus L.)

    DEFF Research Database (Denmark)

    Bach, Vibe; Bennedbæk-Jensen, Sidsel; Clausen, Morten Rahr

    2013-01-01

    Jerusalem artichoke tubers (Helianthus tuberosus L.) undergo enzymatic browning when peeled or cut, and turn grey after boiling, due to after-cooking darkening reactions between iron and phenolic acids. In an attempt to reveal the components responsible for these discolouration reactions, sensory...... evaluation and instrumental colour measurements were related to contents of total phenolics, phenolic acids, organic acids and iron in three varieties of raw and boiled Jerusalem artichoke tubers harvested in the autumn and the spring. No differences were found between varieties in sensory evaluated...... enzymatic browning, but Rema and Draga had higher scores than Mari in after-cooking darkening. Jerusalem artichoke tubers had higher contents of total phenolics, phenolic acids and citric acid in the autumn and low contents in the spring, while it was the opposite for malic acid. None of the chemical...

  14. Liquid chromatography-mass spectrometry identification of anthocyanins of isla oca (Oxalis tuberosa, Mol.) tubers.

    Science.gov (United States)

    Alcalde-Eon, Cristina; Saavedra, Gloria; de Pascual-Teresa, Sonia; Rivas-Gonzalo, Julián C

    2004-10-29

    High-performance liquid chromatography (HPLC)-diode array detection (DAD)-mass spectrometry (MS) techniques have been successfully employed in the identification of the anthocyanins of the coloured tubers of isla oca (Oxalis tuberosa), the second most cultivated tuber in the Andean region. Tubers underwent a pre-treatment step in order to inhibit enzymatic reactions and to obtain a stable powder or "concentrate". This concentrate was dissolved, purified and then analysed. Eight different compounds were found. The major peaks were malvidin glucosides (malvidin 3-O-glucoside and 3,5-O-diglucoside). The rest of the peaks were 3,5-O-diglucosides of petunidin and peonidin, and 3-O-glucosides of delphinidin, petunidin and peonidin. Only malvidin 3-O-acetylglucoside-5-O-glucoside was found as an acylated anthocyanin.

  15. Chemical variations observed in irradiated, treated with IPC and control potato tubers; Variaciones quimica observadas en tuberculos de patata irradiados, tratados con IPC y testigo

    Energy Technology Data Exchange (ETDEWEB)

    Mazon Matanzo, M P; Fernandez Gonzalez, J

    1976-07-01

    The content in soluble sugars, ascorbic acid and phenolic acids of potato tubers preserved by irradiation and IPC, during storage period of five months are studied. In the irradiated tubers, soluble sugars increased immediately after the irradiation, in relation to the control tubers reaching inferior values to those reached by the control tubers, at the end of the storage period. The content in ascorbic acid is generally kept higher in the irradiated and IPC treated tubers than in the control tubers and the content in phenolic acids increased in the irradiated and IPC treated tubers by immediate effect of this treatment. (Author) 39 refs.

  16. Tuber and root resistance of potato genotypes against Meloidogyne chitwoodi in the presence of Avena strigosa, related to tuber quality

    NARCIS (Netherlands)

    Been, Thomas H.; Molendijk, Leendert P.G.; Teklu, Misghina G.; Schomaker, Corrie H.

    2017-01-01

    Relative tuber infestation and quality of two Meloidogyne chitwoodi resistant potato genotypes, AR04-4096 and 2011M1, were compared in glasshouse experiments at initial population density (Pi) = 16 second-stage juveniles (g dry soil)−1 in the presence and absence of the bristle oat, Avena strigosa.

  17. YouTubers and their influence on teenager's values in the Czech Republic

    OpenAIRE

    Dvořák, Marek

    2017-01-01

    The thesis "YouTubers and their influence on the values and development of teenagers in the Czech Republic" aims to determine the influence of people producing and presenting their own videos on the video-sharing website YouTube, the so-called YouTubers, on the social and educational development of teenagers. YouTube is a phenomenon of today's young generation which spends much more time on social networks than in front of television or print media, so the impact of this media on young people...

  18. Physicochemical and Organoleptic Properties of Dried Synbiotics Yoghurt from Lesser Yam Tubers (Dioscoreaesculenta L.

    Directory of Open Access Journals (Sweden)

    Winarti Sri

    2016-01-01

    Full Text Available There are many variations of Yam (Dioscorea spp. which spread out in the world including Indonesia. Those variations could be categorized based on their shape, size, colour, and flavour of their tuber. The genus of Dioscorea spp. has more than 600 species, such as Dioscorea hispida, Dioscorea esculenta (lesser yam, Discorea bulbifera, Dioscorea alata (purple yam, Dioscorea opposita (white yam, Dioscorea villosa (yellow yam, Dioscorea altassima, and Dioscorea elephantipes. At the present, the utilization of yam tubers is seen to be limited. The purpose of the research was to evaluate the properties/characteristics of dried synbiotics yoghurt from lesser yam tubers. The treatment on this study was performed by the number of substitution of lesser yam tubers and the fermentation time. The results show that the dried synbiotics yoghurt that most preferred by consumers was G2F3 (lesser yam 40% and fermentation time 22 hours with an average value 3.65. It is followed by the total LAB (lactic acid bacteria 8,15 log cfu/g, pH 4.27, total lactic acid 1.02%, yield of dried synbiotic yoghurt 32.30%, and total soluble protein 4.53%.

  19. MAPA distinguishes genotype-specific variability of highly similar regulatory protein isoforms in potato tuber.

    Science.gov (United States)

    Hoehenwarter, Wolfgang; Larhlimi, Abdelhalim; Hummel, Jan; Egelhofer, Volker; Selbig, Joachim; van Dongen, Joost T; Wienkoop, Stefanie; Weckwerth, Wolfram

    2011-07-01

    Mass Accuracy Precursor Alignment is a fast and flexible method for comparative proteome analysis that allows the comparison of unprecedented numbers of shotgun proteomics analyses on a personal computer in a matter of hours. We compared 183 LC-MS analyses and more than 2 million MS/MS spectra and could define and separate the proteomic phenotypes of field grown tubers of 12 tetraploid cultivars of the crop plant Solanum tuberosum. Protein isoforms of patatin as well as other major gene families such as lipoxygenase and cysteine protease inhibitor that regulate tuber development were found to be the primary source of variability between the cultivars. This suggests that differentially expressed protein isoforms modulate genotype specific tuber development and the plant phenotype. We properly assigned the measured abundance of tryptic peptides to different protein isoforms that share extensive stretches of primary structure and thus inferred their abundance. Peptides unique to different protein isoforms were used to classify the remaining peptides assigned to the entire subset of isoforms based on a common abundance profile using multivariate statistical procedures. We identified nearly 4000 proteins which we used for quantitative functional annotation making this the most extensive study of the tuber proteome to date.

  20. Balo's concentric sclerosis; value of magnetic resonance imaging in diagnosis

    International Nuclear Information System (INIS)

    Singh, S.; Kuruvilla, A.; Korah, I.P.; Alexander, M.

    1999-01-01

    We report two cases of Balo's concentric sclerosis that demonstrate the typical magnetic resonance imaging (MRI) findings of concentric rings of demyelination involving the superficial and deep white matter and sparing the cortex. In both cases biopsy was not performed as MRI findings and multi-mode evoked potential studies were consistent with demyelinating illness. The theories regarding the pathogenesis of this peculiar appearance are briefly reviewed. Balo's concentric sclerosis is a very rare type of demyelinating disease characterized pathologically by large alternating lamellae of demyelinated and myelinated white matter arranged in a concentric pattern. This progressive disease is more often found in young male adults and is more common in the Philippines. Balo's concentric sclerosis is considered an unusual variant of multiple sclerosis (MS); however, some authors believe it to be a different entity. Although the pathogenesis of the concentric sclerosis is debated, the cause of demyelination is generally presumed to be the same as that of multiple sclerosis. There is striking resemblance between the magnetic resonance (MR) appearance and the histopathological features of MS. Not all cases may show a typical MR appearance. Prior to MR imaging, most of them were diagnosed at post-mortem. To our knowledge, few cases have been diagnosed by MR imaging in life. Copyright (1999) Blackwell Science Pty Ltd

  1. Oral and periodontal manifestations associated with systemic sclerosis: A case series and review.

    Science.gov (United States)

    Jagadish, Rekha; Mehta, Dhoom Singh; Jagadish, P

    2012-04-01

    Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient's informed consent, relevant medical history, oral manifestations including periodontal findings and oral hygiene index simplified index were recorded. In these patients, oral changes included restricted mouth opening and, resorption of the mandible. The periodontal changes observed were gingival recession, absence or minimal gingival bleeding on probing, and widened periodontal ligament space, radiographically. Patients with systemic sclerosis often show wide range of oral manifestations, which is of major concern for the dentist.

  2. Oral and periodontal manifestations associated with systemic sclerosis: A case series and review

    Directory of Open Access Journals (Sweden)

    Rekha Jagadish

    2012-01-01

    Full Text Available Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient′s informed consent, relevant medical history, oral manifestations including periodontal findings and oral hygiene index simplified index were recorded. In these patients, oral changes included restricted mouth opening and, resorption of the mandible. The periodontal changes observed were gingival recession, absence or minimal gingival bleeding on probing, and widened periodontal ligament space, radiographically. Patients with systemic sclerosis often show wide range of oral manifestations, which is of major concern for the dentist.

  3. Role of dimethyl fumarate in oxidative stress of multiple sclerosis: A review.

    Science.gov (United States)

    Suneetha, A; Raja Rajeswari, K

    2016-04-15

    Multiple sclerosis (MS) is a chronic inflammatory disease of the CNS affecting both white and grey matter. Inflammation and oxidative stress are also thought to promote tissue damage in multiple sclerosis. Recent data point at an important role of anti-oxidative pathways for tissue protection in chronic MS, particularly involving the transcription factor nuclear factor (erythroid-derived 2)-related factor 2 (Nrf2). Thus, novel therapeutics enhancing cellular resistance to free radicals could prove useful for MS treatment. Oxidative stress and anti-oxidative pathways are important players in MS pathophysiology and constitute a promising target for future MS therapy with dimethyl fumarate. The clinical utility of DMF in multiple sclerosis is being explored through phase III trials with BG-12, which is an oral therapeutic agent. Currently a wide research is going on to find out the exact mechanism of DMF, till date it is not clear. Based on strong signals of nephrotoxicity in non-humans and the theoretical risk of renal cell cancer from intracellular accumulation of fumarate, post-marketing study of a large population of patients will be necessary to fully assess the long-term safety of dimethyl fumarate. The current treatment goals are to shorten the duration and severity of relapses, prolong the time between relapses, and delay progression of disability. In this regard, dimethyl fumarate offers a promising alternative to orally administered fingolimod (GILENYA) or teriflunomide (AUBAGIO), which are currently marketed in the United States under FDA-mandated Risk Evaluation and Mitigation Strategy (REMS) programs because of serious safety concerns. More clinical experience with all three agents will be necessary to differentiate the tolerability of long-term therapy for patients diagnosed with multiple sclerosis. This write-up provides the detailed information of dimethyl fumarate in treating the neuro disease, multiple sclerosis and its mechanism involved via

  4. Does hippotherapy improve balance in persons with multiple sclerosis: a systematic review.

    Science.gov (United States)

    Bronson, C; Brewerton, K; Ong, J; Palanca, C; Sullivan, S John

    2010-09-01

    Multiple sclerosis (MS) leads to changes in balance due to the breakdown of a number of neurological processes. Hippotherapy utilizes the movement of the horse to provide sensory feedback and has been used as a therapeutic intervention for different neurological conditions. Little is known about the effects of hippotherapy in MS. The purpose of this study is to systematically review and examine the evidence for hippotherapy as an intervention to improve balance in persons with MS. Major electronic databases were searched for articles relating to hippotherapy, MS and balance. Only full length articles published in peer reviewed journals that were written in English or translated into English were included. Articles were assessed using a modified quality index that was used for descriptive purposes only and did not exclude any study from the review. All studies examined in this review were either case-control or case-series. Collectively all three studies reported improvements in balance. Pre-test and post-test Berg Balance Scale scores in two studies revealed that primary progressive MS demonstrated the greatest amount of change after hippotherapy compared to other subtypes of MS. Hippotherapy has a positive effect on balance in persons with MS and has an added benefit of enhancing quality of life. The data is limited and further research will lead to a greater knowledge base and has the potential to increase accessibility for hippotherapy to be used as a rehabilitation modality.

  5. Tratamento dos angiofibromas múltiplos da face com radiofrequência Multiple facial angiofibromas treated with high-frequency equipment

    Directory of Open Access Journals (Sweden)

    Allysson Antonio Ribeiro Gomes

    2011-08-01

    Full Text Available Esclerose tuberosa é uma doença genética rara, com herança autossômica dominante, associada à formação de hamartomas múltiplos em vários órgãos, como cérebro, pele, pulmões, rins, coração e olhos. Os autores deste estudo apresentam um caso de uma paciente do sexo feminino, com 30 anos de idade, portadora de esclerose tuberosa, apresentando múltiplos angiofibromas em face, tratada com equipamento de alta frequência (radiofrequência, e discutem as opções terapêuticas para tratamento de indivíduos portadores de esclerose tuberosa com extenso envolvimento cutâneoTuberous sclerosis is a rare genetic disease with autosomal dominant inheritance, associated with multiple hamartomas in several organs, such as the brain, skin, lung, kidney, heart and eyes. The authors of this study report a case of a 30 years old female patient with tuberous sclerosis, presenting multiple angiofibromas on face treated with high frequency equipment (radiofrequency, and discuss the therapeutic options for treatment of individuals with extensive cutaneous involvement in tuberous sclerosis

  6. Antioxidant activity of the various extracts of cyclamen graecum link tubers and leaves from turkey

    International Nuclear Information System (INIS)

    Metin, H.; Aydin, C.; Mammadov, R.

    2013-01-01

    In this study, antioxidant activities of various solvent extracts (methanol, ethanol, acetone and petroleum benzine) obtained from tubers and leaves of Cyclamen graecum Link (Primulaceae) were determined. Antioxidant properties of various extracts from C. graecum were evaluated by using 2,2-diphenyl-1-picrylhydrazyl (DPPH) and beta-carotene-linoleic acid assays. In addition, total phenolic contents in all the extracts of C. graecum tubers and leaves were determined as pyrocatechol equivalents. Leaves extracts of C. graecum exhibited higher antioxidant activity than tuber extracts with all the types of solvent used. All extracts of C. graecum tubers and leaves had effective free radical scavenging activity. The scavenging activity of C. graecum leaf-ethanol extract (97.3 +- 0.55%) was found more effective than BHT (92.30 +- 0.35%). A positive correlation was observed between antioxidant activity and amount of phenolic contents of the extracts. In this study, all types of extracts obtained from C. graecum have showed strong antioxidant activity. Therefore, this species can be used as a natural antioxidant in food processing and pharmaceutical industries. (author)

  7. Oral and periodontal manifestations associated with systemic sclerosis: A case series and review

    OpenAIRE

    Rekha Jagadish; Dhoom Singh Mehta; P Jagadish

    2012-01-01

    Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient's informed consent, relevant medical history, oral mani...

  8. Multiple sclerosis

    Science.gov (United States)

    ... indwelling catheter Osteoporosis or thinning of the bones Pressure sores Side effects of medicines used to treat the ... Daily bowel care program Multiple sclerosis - discharge Preventing pressure ulcers Swallowing problems Images Multiple sclerosis MRI of the ...

  9. Rapid and sensitive detection of potyvirus infecting tropical tuber ...

    African Journals Online (AJOL)

    Yomi

    2012-01-16

    Jan 16, 2012 ... tropical tuber crops using genus specific primers and probes. Binoy Babu ... diagnosis of plant viral diseases (Clark and Adams, 1977;. Flegg and Clark ..... Network Project on Diagnostics of Emerging Plant. Viruses” and the ...

  10. The genetics of multiple sclerosis: review of current and emerging candidates

    Science.gov (United States)

    Muñoz-Culla, Maider; Irizar, Haritz; Otaegui, David

    2013-01-01

    Multiple sclerosis (MS) is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it does not explain the whole heritability of the disease. To find other non-human leukocyte antigen loci associated with the disease, high-throughput genotyping, sequencing, and gene-expression studies have been performed, producing a valuable quantity of information. An overview of the genomic and expression studies is provided in this review, as well as microRNA-expression studies, highlighting the importance of combining all the layers of information in order to elucidate the causes or pathological mechanisms occurring in the disease. Genetics in MS is a promising field that is presumably going to be very productive in the next decade understanding the cross talk between all the factors contributing to the development of MS. PMID:24019748

  11. Tumefactive multiple sclerosis requiring emergency craniotomy: case report and literature review.

    Science.gov (United States)

    Munarriz, Pablo M; Castaño-Leon, Ana M; Martinez-Perez, Rafael; Hernandez-Lain, Aurelio; Ramos, Ana; Lagares, Alfonso

    2013-01-01

    Multiple sclerosis (MS) is a demyelinating disease of the central nervous system, characterized by focal neurological dysfunction with a relapsing and remitting course. Tumor-like presentation of MS (or "tumefactive"/"pseudotumoral" presentation) has been described before with a certain frequency; it consists of a large single plaque (>2cm) with presence of edema and mass effect and it is hard to distinguish from a brain tumor. However, we present a very rare case of a 53-year-old woman with a right temporal mass that turned out to be a MS plaque, who deteriorated within hours (brain herniation with loss of consciousness and unilateral mydriasis) and required an emergency craniotomy. We also present a review of the literature. It appears that only 4 cases of emergency craniotomy/craniectomy required in a patient with a tumor-like MS plaque have been reported before. Copyright © 2012 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  12. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

    Science.gov (United States)

    Katz Sand, Ilana B.; Honce, Justin M.; Lublin, Fred D.

    2015-01-01

    Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient’s ‘multiple sclerosis-like’ phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. PMID:25636970

  13. Antioxidant activities of dioscorin, the storage protein of yam (Dioscorea batatas Decne) tuber.

    Science.gov (United States)

    Hou, W C; Lee, M H; Chen, H J; Liang, W L; Han, C H; Liu, Y W; Lin, Y H

    2001-10-01

    Dioscorin, the storage protein of yam (Dioscorea batatas Decne) tuber (which is different from dioscorine found in tubers of Dioscorea hirsuta), was purified to homogeneity after DE-52 ion exchange column according to the methods of Hou et al. (J. Agric. Food Chem. 1999, 47, 2168-2172). A single band of 32 kDa dioscorin was obtained on a sodium dodecyl sulfate-polyacrylamide gel electrophoresis gel with 2-mercaptoethanol treatment. This purified dioscorin was shown by spectrophotometric method to have scavenging activity against 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical in a pH-dependent manner. There is a positive correlation between scavenging effects against DPPH (8-46%) and amounts of 32 kDa dioscorin (5.97-47.80 nmol) added in Tris-HCl buffer (pH 7.9), which are comparable to those of glutathione at the same concentrations. Using electron paramagnetic resonance (EPR) spectrometry for DPPH radical detection, it was found that the intensities of the EPR signal were decreased by 28.6 and 57 nmol of 32 kDa dioscorin in Tris-HCl buffer (pH 7.9) more than in distilled water compared to controls. EPR spectrometry was also used for hydroxyl radical detection. It was found that 32 kDa dioscorin could capture hydroxyl radical, and the intensities of the EPR signal were significantly decreased dose-dependently by 1.79-14.32 nmol of 32 kDa dioscorin (r = 0.975) compared to the control. It is suggested that 32 kDa dioscorin, the storage protein of yam tuber, may play a role as antioxidant in tubers and may be beneficial for health when people take it as a food additive or consume yam tubers.

  14. Comparasion of iles-iles and cassava tubers as a Saccharomyces cerevisiae substrate fermentation for bioethanol production

    Directory of Open Access Journals (Sweden)

    KUSMIYATI

    2010-01-01

    Full Text Available Kusmiyati (2010 Comparasion of iles-iles and cassava tubers as a Saccharomyces cerevisiae substrate fermentation for bioethanol production. Nusantara Bioscience 2: 7-13. The production of bioethanol increase rapidly because it is renewable energy that can be used to solve energy crisis caused by the depleting of fossil oil. The large scale production bioethanol in industry generally use feedstock such as sugarcane, corn, and cassava that are also required as food resouces. Therefore, many studies on the bioethanol process concerned with the use raw materials that were not competing with food supply. One of the alternative feedstock able to utilize for bioethanol production is the starchy material that available locally namely iles-iles (Amorphophallus mueller Blum. The contain of carbohydrate in the iles-iles tubers is around 71.12 % which is slightly lower as compared to cassava tuber (83,47%. The effect of various starting material, starch concentration, pH, fermentation time were studied. The conversion of starchy material to ethanol have three steps, liquefaction and saccharification were conducted using α-amylase and amyloglucosidase then fermentation by yeast S.cerevisiaie. The highest bioethanol was obtained at following variables starch:water ratio=1:4 ;liquefaction with 0.40 mL α-amylase (4h; saccharification with 0.40 mL amyloglucosidase (40h; fermentation with 10 mL S.cerevisiae (72h producing bioethanol 69,81 g/L from cassava while 53,49 g/L from iles-iles tuber. At the optimum condition, total sugar produced was 33,431 g/L from cassava while 16,175 g/L from iles-iles tuber. The effect of pH revealed that the best ethanol produced was obtained at pH 5.5 during fermentation occurred for both cassava and iles-iles tubers. From the results studied shows that iles-iles tuber is promising feedstock because it is producing bioethanol almost similarly compared to cassava.

  15. Progressive multiple sclerosis: from pathogenic mechanisms to treatment.

    Science.gov (United States)

    Correale, Jorge; Gaitán, María I; Ysrraelit, María C; Fiol, Marcela P

    2017-03-01

    During the past decades, better understanding of relapsing-remitting multiple sclerosis disease mechanisms have led to the development of several disease-modifying therapies, reducing relapse rates and severity, through immune system modulation or suppression. In contrast, current therapeutic options for progressive multiple sclerosis remain comparatively disappointing and challenging. One possible explanation is a lack of understanding of pathogenic mechanisms driving progressive multiple sclerosis. Furthermore, diagnosis is usually retrospective, based on history of gradual neurological worsening with or without occasional relapses, minor remissions or plateaus. In addition, imaging methods as well as biomarkers are not well established. Magnetic resonance imaging studies in progressive multiple sclerosis show decreased blood-brain barrier permeability, probably reflecting compartmentalization of inflammation behind a relatively intact blood-brain barrier. Interestingly, a spectrum of inflammatory cell types infiltrates the leptomeninges during subpial cortical demyelination. Indeed, recent magnetic resonance imaging studies show leptomeningeal contrast enhancement in subjects with progressive multiple sclerosis, possibly representing an in vivo marker of inflammation associated to subpial demyelination. Treatments for progressive disease depend on underlying mechanisms causing central nervous system damage. Immunity sheltered behind an intact blood-brain barrier, energy failure, and membrane channel dysfunction may be key processes in progressive disease. Interfering with these mechanisms may provide neuroprotection and prevent disability progression, while potentially restoring activity and conduction along damaged axons by repairing myelin. Although most previous clinical trials in progressive multiple sclerosis have yielded disappointing results, important lessons have been learnt, improving the design of novel ones. This review discusses mechanisms involved

  16. Pediatric multiple sclerosis: current perspectives on health behaviors

    Directory of Open Access Journals (Sweden)

    Sikes EM

    2018-03-01

    Full Text Available Elizabeth Morghen Sikes,1 Robert W Motl,1 Jayne M Ness2 1Department of Physical Therapy, University of Alabama at Birmingham, Birmingham, AL, USA; 2Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, AL, USA Purpose: Pediatric-onset multiple sclerosis (POMS accounts for ~5% of all multiple sclerosis cases, and has a prevalence of ~10,000 children in the USA. POMS is associated with a higher relapse rate, and results in irreversible disability on average 10 years earlier than adult-onset multiple sclerosis. Other manifestations of POMS include mental and physical fatigue, cognitive impairment, and depression. We believe that the health behaviors of physical activity, diet, and sleep may have potential benefits in POMS, and present a scoping review of the existing literature. Methods: We identified papers by searching three electronic databases (PubMed, GoogleScholar, and CINAHL. Search terms included: pediatric multiple sclerosis OR pediatric onset multiple sclerosis OR POMS AND health behavior OR physical activity OR sleep OR diet OR nutrition OR obesity. Papers were included in this review if they were published in English, referenced nutrition, diet, obesity, sleep, exercise, or physical activity, and included pediatric-onset multiple sclerosis as a primary population. Results: Twenty papers were identified via the literature search that addressed health-promoting behaviors in POMS, and 11, 8, and 3 papers focused on diet, activity, and sleep, respectively. Health-promoting behaviors were associated with markers of disease burden in POMS. Physical activity participation was associated with reduced relapse rate, disease burden, and sleep/rest fatigue symptoms. Nutritional factors, particularly vitamin D intake, may be associated with relapse rate. Obesity has been associated with increased risk of developing POMS. POMS is associated with better sleep hygiene, and this may benefit fatigue and quality of life

  17. [A review of multiple sclerosis (2). Diagnosis and treatment].

    Science.gov (United States)

    Martinez-Altarriba, M C; Ramos-Campoy, O; Luna-Calcaño, I M; Arrieta-Antón, E

    2015-09-01

    Multiple sclerosis is a major demyelinating disease of the central nervous system. It has a significant economic and social impact. Its etiology is unclear, although there are several hypotheses, such as infections or genetics. In its pathophysiology, it seems that immune activation attacks the myelin sheath, causing a progressive and irreversible axonal degeneration. The disease produces a variety of symptoms, and diagnosis requires fulfilling a number of criteria and the exclusion of other possible causes. The role of neuroimaging is very important, especially Magnetic Resonance Imaging. Despite the availability of disease-modifying drugs, none of them are able to halt its progress, and the most useful drugs are those designed to alleviate the symptoms of outbreaks. Overall, multiple sclerosis requires a significant effort in research to clarify not only why and how it occurs, as well as the development of new measures to improve quality of life of affected patients. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Estimate of the cost of multiple sclerosis in Spain by literature review.

    Science.gov (United States)

    Fernández, Oscar; Calleja-Hernández, Miguel Angel; Meca-Lallana, José; Oreja-Guevara, Celia; Polanco, Ana; Pérez-Alcántara, Ferran

    2017-08-01

    Multiple Sclerosis (MS) is a progressive disease leading to increasing disability and costs. A literature review was carried out to identify MS costs and to estimate its economic burden in Spain. Areas Covered: The public electronic databases PubMed, ScienceDirect and IBECS were consulted and a manual review of communications presented at related congresses was carried out. A total of 225 references were obtained, of which 43 were finally included in the study. Expert Commentary: Three major cost groups were identified: direct healthcare costs, direct non-healthcare costs and indirect costs. There is a direct relationship between disease progression and increased costs, mainly direct non-healthcare costs (greater need for informal care) and indirect costs (greater loss of productivity). The total cost associated with MS in Spain is €1,395 million per year, and that the mean annual cost per patient is €30,050. Beyond costs, a large impact on the quality of life of patients, with an annual loss of up to 13,000 quality-adjusted life years was also estimated. MS has a large economic impact on Spanish society and a significant impact on the quality of life of patients.

  19. The potato tuber mitochondrial proteome

    DEFF Research Database (Denmark)

    Møller, Ian Max; Salvato, Fernanda; Havelund, Jesper

    We are testing the hypothesis that oxidized peptides are released from stressed mitochondria and contribute to retrograde signalling (Møller IM & Sweetlove LJ 2010 Trends Plant Sci 15, 370-374). However, there is a large gap between the number of experimentally verified mitochondrial proteins (~450......) and in silico-predicted mitochondrial proteins (2000-3000). Thus, before starting to look for oxidized peptides, we wanted to expand the current compendium of plant mitochondrial proteins while obtaining what could be termed the "baseline proteome" from our model organelle, the potato tuber mitochondrion. Its...

  20. The development for C-band whole sealed vacuum accelerating tuber

    International Nuclear Information System (INIS)

    Zhou Wenzhen; Zhang Xiangyang; Ding Shulin; Hu Jinquan; Yang Zhenyuan

    1999-01-01

    S-Band standing wave electron linacs have got wide-ranging application for industry nondestructive testing and formed varied kinds of products. X-band electron linac for NDT has been developed by Schonberg Company USA in 1985. Because of bigger structure of S-band linac and difficult machining of X-Band linac, an C-band portable linac for NDT has been developed in CIAE at present, a whole sealed vacuum accelerating tuber will be given here. It consists of 4 cavities, the phase velocity of the first two cavities is 0.5 and 0.9, respectively, and that of the second two cavities is 1. The high power testing proved that the design of the accelerating tuber is good for 1.5 MeV electron linac for NDT

  1. Tuber aztecorum sp. nov., a truffle species from Mexico belonging to the Maculatum clade (Tuberaceae, Pezizales

    Directory of Open Access Journals (Sweden)

    Gonzalo Guevara-Guerrero

    2018-02-01

    Full Text Available A new species of truffle, T. aztecorum, is described from central Mexico. Tuber aztecorum can be distinguished from other related Tuber species synoptically by a combination of morphological features including ascospore size, pellis cells with irregular thickness, cystidia, ascoma colour and associated host (Abies religiosa an endemic Abies species from central Mexico; sequence variation on the ITS rDNA also distinguishes T. aztecorum from related species. A phylogenetic analysis of the ITS rDNA demonstrates that T. aztecorum belongs to the Maculatum clade and is unique from other similar small, white-cream coloured Tuber species distributed in north-eastern Mexico such as T. castilloi and T. guevarai.

  2. Studying some Aspects of Biology and Morphology of Root Tubers and Seeds of Ranunculus ficaria L.

    Directory of Open Access Journals (Sweden)

    S. Sohrabi

    2017-01-01

    Full Text Available Introduction: Ranunculus ficariais L. (Fig buttercup or Lesser Celandine is an herbaceous perennial belongs to Ranunculaceae (buttercup family that behaves as a ground cover. It is a spring ephemeral that grows from a cluster of tuberous roots in late winter or early spring. It has glossy, dark green (sometimes slightly mottled, fleshy leaves on long petioles, and cordate to oblong-cordate in shape. The margins can be entire or wavy (1, 28. Flowers 15-60 mm in diameter, solitary at the end of each stem branch. Flowers have 3 sepals (rarely more, 3 petals, bright, pale to golden yellow, very rarely orange, shining on inside, receptacle concave, with short, pale simple glandular hairs. Achenes either abortive or maturing in a globular cluster, when mature 2•5-5•0 x 1•7-3•5 mm, more or less globular or obovoid, usually with few to numerous very short simple glandular hairs. This invasive weed spreads primarily by vegetative means through abundant tubers and bulblets, each of which can grow into a new plant once separated from the parent plant. The prolific tubers may be unearthed and scattered by the digging activities of some animals, including well-meaning human weed pullers, and spread to new sites during flood events (28. This weed has two subspecies, R. ficaria Subsp. ficaria and R. ficaria Subsp. bulbilifer that the second is probably the only subspecies of mountainous regions in many areas. It is an abundant weed of lawns and gardens, where it spreads rapidly and is very difficult to eradicate. According to our observations probably R. ficaria spread by tubers from mountains to fields that near to mountains in Lorestan province of Iran. The Aim of this study was assessment of this weed to improve its management practices in the wheat fields. Materials and Methods: In order to study the some aspects of biology and morphology of tubers root and seeds of R. ficaria , two experiments were conducted at Laboratory of Gorgan University in

  3. A Systematic Review and Meta-Analysis of Strength Training in Individuals With Multiple Sclerosis Or Parkinson Disease

    Science.gov (United States)

    Cruickshank, Travis M.; Reyes, Alvaro R.; Ziman, Melanie R.

    2015-01-01

    Abstract Strength training has, in recent years, been shown to be beneficial for people with Parkinson disease and multiple sclerosis. Consensus regarding its utility for these disorders nevertheless remains contentious among healthcare professionals. Greater clarity is required, especially in regards to the type and magnitude of effects as well as the response differences to strength training between individuals with Parkinson disease or multiple sclerosis. This study examines the effects, magnitude of those effects, and response differences to strength training between patients with Parkinson disease or multiple sclerosis. A comprehensive search of electronic databases including Physiotherapy Evidence Database scale, PubMed, EMBASE, Cochrane Central Register of Controlled Trials, and CINAHL was conducted from inception to July 2014. English articles investigating the effect of strength training for individuals with neurodegenerative disorders were selected. Strength training trials that met the inclusion criteria were found for individuals with Parkinson disease or multiple sclerosis. Individuals with Parkinson disease or multiple sclerosis were included in the study. Strength training interventions included traditional (free weights/machine exercises) and nontraditional programs (eccentric cycling). Included articles were critically appraised using the Physiotherapy Evidence Database scale. Of the 507 articles retrieved, only 20 articles met the inclusion criteria. Of these, 14 were randomized and 6 were nonrandomized controlled articles in Parkinson disease or multiple sclerosis. Six randomized and 2 nonrandomized controlled articles originated from 3 trials and were subsequently pooled for systematic analysis. Strength training was found to significantly improve muscle strength in people with Parkinson disease (15%–83.2%) and multiple sclerosis (4.5%–36%). Significant improvements in mobility (11.4%) and disease progression were also reported in people

  4. Hypothermia in Multiple Sclerosis: Beyond the Hypothalamus? A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Francesco Berti

    2018-01-01

    Full Text Available Hypothermia is a rare and poorly understood complication of Multiple Sclerosis (MS. We report on a 66-year-old patient currently with Secondary Progressive MS (SP-MS who developed unexplained hypothermia associated with multiple hospitalisations and we review the literature on this topic. In our case, magnetic resonance imaging (MRI of the brain failed to highlight hypothalamic disease, but spinal MRI identified a number of spinal cord lesions. Given the incidence and clinical significance of spinal involvement in MS and the hypothermic disturbances observed in high Spinal Cord Injury (SCI, we hypothesise that upper spinal cord pathology, along with hypothalamic and brainstem dysfunctions, can contribute to hypothermia.

  5. Fusarium spp. causing dry rot of seed potato tubers in Michigan and their sensitivity to fungicides

    Science.gov (United States)

    Fusarium dry rot of potato (Solanum tuberosum L.) is a postharvest disease that can be caused by several Fusarium spp. A survey was conducted to establish the composition of Fusarium species causing dry rot of seed tubers in Michigan. A total of 370 dry rot symptomatic tubers were collected in 2009 ...

  6. Relationships among genetic makeup, active ingredient content, and place of origin of the medicinal plant Gastrodia tuber.

    Science.gov (United States)

    Tao, Jun; Luo, Zhi-yong; Msangi, Chikira Ismail; Shu, Xiao-shun; Wen, Li; Liu, Shui-ping; Zhou, Chang-quan; Liu, Rui-xin; Hu, Wei-xin

    2009-02-01

    Gastrodia tuber and its component gastrodin have many pharmacological effects. The chemical fingerprints and gastrodin contents of eight Gastrodia populations were determined, and the genomic DNA polymorphism of the populations was investigated. Genetic distance coefficients among the populations were calculated using the DNA polymorphism data. A dendrogram of the genetic similarities between the populations was constructed using the genetic distance coefficients. The results indicated that the genomic DNA of Gastrodia tubers was highly polymorphic; the eight populations clustered into three major groups, and the gastrodin content varied greatly among these groups. There were obvious correlations among genetic makeup, gastrodin content, and place of origin. The ecological environments in Guizhou and Shanxi may be conducive to evolution and to gastrodin biosynthesis, and more suitable for cultivation of Gastrodia tubers. These findings may provide a scientific basis for overall genetic resource management and for the selection of locations for cultivating Gastrodia tubers.

  7. Altered Tuber Yield in Genetically Modified High-Amylose and Oil Potato Lines Is Associated With Changed Whole-Plant Nitrogen Economy

    Directory of Open Access Journals (Sweden)

    Fereshteh Pourazari

    2018-03-01

    Full Text Available Breeding for improved crop quality traits can affect non-target traits related to growth and resource use, and these effects may vary in different cultivation conditions (e. g., greenhouse vs. field. The objectives of this study are to investigate the growth and whole-plant nitrogen (N economy of two genetically modified (GM potato lines compared to their non-GM parental varieties and when grown in different cultivation conditions. A high-amylose GM potato line and its parent were grown under field and greenhouse conditions for one growing season in Sweden; and a GM oil potato line and its parent were grown in greenhouse conditions only. Tuber yield, above ground biomass, N uptake efficiency and other plant N economy traits were assessed. In both cultivation conditions, the GM lines produced between 1.5 and two times more tubers as compared with their parents. In the greenhouse, fresh tuber yield and N uptake efficiency were unaffected by the genetic modifications, but the GM-lines produced less tuber biomass per plant-internal N compared to their parents. In the field, the fresh tuber yield was 40% greater in the high-amylose line as compared with its parent; the greater fresh tuber yield in the high-amylose GM line was accomplished by higher water allocation to the harvested tubers, and associated with increased N recovery from soil (+20%, N uptake efficiency (+53%, tuber N content (+20%, and N accumulation (+120% compared with the non-GM parent. The cultivation conditions influenced the yield and N economy. For example, the final fresh above-ground plant biomass and N pool were considerably higher in the greenhouse conditions, whilst the tuber yield was higher in the field conditions. In conclusion, the genetic modification inducing high accumulation of amylose in potato tubers affected several non-target traits related to plant N economy, and increased the plant N uptake and accumulation efficiency of the field-grown plants. Due to strongly

  8. Altered Tuber Yield in Genetically Modified High-Amylose and Oil Potato Lines Is Associated With Changed Whole-Plant Nitrogen Economy.

    Science.gov (United States)

    Pourazari, Fereshteh; Andersson, Mariette; Weih, Martin

    2018-01-01

    Breeding for improved crop quality traits can affect non-target traits related to growth and resource use, and these effects may vary in different cultivation conditions (e. g., greenhouse vs. field). The objectives of this study are to investigate the growth and whole-plant nitrogen (N) economy of two genetically modified (GM) potato lines compared to their non-GM parental varieties and when grown in different cultivation conditions. A high-amylose GM potato line and its parent were grown under field and greenhouse conditions for one growing season in Sweden; and a GM oil potato line and its parent were grown in greenhouse conditions only. Tuber yield, above ground biomass, N uptake efficiency and other plant N economy traits were assessed. In both cultivation conditions, the GM lines produced between 1.5 and two times more tubers as compared with their parents. In the greenhouse, fresh tuber yield and N uptake efficiency were unaffected by the genetic modifications, but the GM-lines produced less tuber biomass per plant-internal N compared to their parents. In the field, the fresh tuber yield was 40% greater in the high-amylose line as compared with its parent; the greater fresh tuber yield in the high-amylose GM line was accomplished by higher water allocation to the harvested tubers, and associated with increased N recovery from soil (+20%), N uptake efficiency (+53%), tuber N content (+20%), and N accumulation (+120%) compared with the non-GM parent. The cultivation conditions influenced the yield and N economy. For example, the final fresh above-ground plant biomass and N pool were considerably higher in the greenhouse conditions, whilst the tuber yield was higher in the field conditions. In conclusion, the genetic modification inducing high accumulation of amylose in potato tubers affected several non-target traits related to plant N economy, and increased the plant N uptake and accumulation efficiency of the field-grown plants. Due to strongly increased

  9. Assay for hypoglycemic functional food of cocoyam (Xanthosoma sagittifolium (L.) Schott.) tuber

    Science.gov (United States)

    Handajani, N. S.; Harini, M.; Yuliningsih, R.; Afianatuzzahra, S.; Hasanah, U.; Widiyani, T.

    2018-03-01

    Diabetes Mellitus (DM) type II is a degenerative disease that is a major killer in many countries. It is characterized by an increase of the blood glucose level above normal. It is important to choose an appropriate food sources using glycemic index (GI) concept in order to prevent blood glucose increase. One of Indonesian traditional carbohydrate source is cocoyam (Xanthosoma sagittifolium (L.) Schott.) tuber. The tuber is assumed having a higher carbohydrate content with lower GI. The research aims to measure GI of cocoyam tuber (CT) and determine glucose and glycogen level in animal model after CT fed. Experimental research was carried out by using completely randomized design. We used twenty four male rats as animal models. They were grouped in to 4 different treatments. Group I was treated with standard feed, group II was treated with standard feed and glucose, group III was treated with steamed CT, and group IV was treated hypoglicemic agent standard, glibencamide. The research results that GI of steamed CT was low. It was 54. Blood glucose of diabetic rats after fed by CT decreased significantly (p<0.05), similar to diabetic rats after treated by glibencamide. Whereas glycogen level in diabetic rats after fed by CT was higher than in diabetic rats after fed by standard feed. Cocoyam tuber increased glycogen level in diabetic rats significantly (p<0,05). Glycogen level in diabetic rats fed by CT was as high as in healthy rats. Therefore CT is potential consumed for DM type II patients.

  10. Role of citric acid in the after-cooking darkening of γ-irradiated potato tubers

    International Nuclear Information System (INIS)

    Thomas, P.; Adam, S.; Diehl, J.F.

    1979-01-01

    With the aim of exploring the reasons for radiation-induced after-cooking darkening of potato tubers, organic acids from a naturally darkening (Irmgard) and a nondarkening cultivar (Hansa) were purified by ion-exchange chromatography and quantified by gas--liquid chromatography of the trimethylsilyl derivatives. Citric, malic, and pyroglutamic acids were the main components, citric acid forming 70 to 80% of the total acids. Major differences in citric and malic acid content were observed between the darkening and nondarkening cultivars. A significant decrease in citric acid content accompanied by increases in malic and pyroglutamic acids were noted in irradiated tubers during storage. The induction of after-cooking darkening in irradiated potatoes is attributed to decreased citric acid levels and enhanced polyphenols in the tuber tissues, both changes favoring the formation of iron--phenolic complexes responsible for the discoloration

  11. Wound healing activity of Ipomoea batatas tubers (sweet potato

    Directory of Open Access Journals (Sweden)

    Madhav Sonkamble

    2011-10-01

    Full Text Available Background: Ipomoea batatas (L. Lam. from the family Convolvulaceae is the world’s sixth largest food crop. The tubers of Ipomoea batatas commonly known as sweet potato are consumed as a vegetable globally. The tubers contain high levels of polyphenols such as anthocyanins and phenolic acids and vitamins A, B and C, which impart a potent antioxidant activity that can translate well to show wound healing effects. To check their effects on wound healing, the peels and peel bandage were tested on various injury models in rats in the present study.Methods: The methanolic extracts of the peels and peel bandage of Ipomoea batatas tubers (sweet potato were screened for wound healing by excision and incision wound models on Wistar rats. Three types of gel formulations were prepared, viz., gel containing 3.0% (w/w peel extract, gel containing 6.0% (w/w peel extract and gel containing 10% (w/w peel extract. Betadine (5% w/w povidone iodine cream was used as a reference standard. In the incision wound model, Tensile strength of the skin was measured. Epithelization time, wound contraction, hydroxyproline content of the scab, and ascorbic acid and malondialdehyde content of the plasma were determined in the excision wound model.Results: In the incision wound model, high tensile strength of the wounded skin was observed in animals treated with the peel extract gels and the peel bandage when compared with wounded control animals. The increase in tensile strength indicates the promotion of collagen fibers and that the disrupted wound surfaces are being firmly knit by collagen. In the excision wound model, significant wound closure was observed on the 4th day in rats treated with all three gel formulations when compared with the wounded control rats. A significant increase inFunctional Foods in Health and Disease 2011; 10:403-415hydroxyproline and ascorbic acid content in the gel-treated animals and a significant decrease in malondialdehyde content in the

  12. Effect of Dose and Oxadiargyl Application Time at the Different Growth Stages on Weed Biomass and Tuber Yield of Potato (Solanum tuberosum L.

    Directory of Open Access Journals (Sweden)

    E. Samadi Kalkhoran

    2016-01-01

    Full Text Available To evaluate the effects of dose and application time of oxadiargyl, as a postemergence herbicide, on weed biomass and tuber yield of potato, a factorial experiment based on randomized complete block design with 3 replications was conducted at Alaroog Research Station at the University of Mohaghegh-Ardabili in 2013. Treatments consisted of oxadiargyl dosages (0, 0.05, 0.1, 0.2, 0.4, 0.6 and 0.8 lit a.i /ha, and its time of applications at different potato growth stages (potato emergence, stolon initiation and potato tuber bulking, weed free treatment was considered as control. Statistical analysis showed that 0.8 lit a.i/ha of oxadiargyl reduced biomass of weed by 66.16 percent. Oxadiargyl application at emergence time resulted in highest percent reduction of weed biomass. Results, also, showed that application 0.8 lit a.i/ha of oxadiargyl, after weed free condition, increased number of seed tuber and total tuber yield by 82.16 and 51.59 percent respectively, but it reduced number of non seed tuber by 43.17 percent. Application of oxadiargyl at emergence time, as compared with the other application times, resulted in highest increase in the number of seed tuber and total tuber yield, but it did not affected number of non seed tubers. Interaction effect of dose by time of oxadiargyl application revealed that using 0.8 lit a.i/ha dose at potato emergence time increased number of edible tubers by 100%. It may be conducted that application of this dose at potato emergence time was highly efficient in controlling weeds and increasing potato tuber yield.

  13. Amylolytic studies of pleurotus tuber-regium | Monago | Global ...

    African Journals Online (AJOL)

    The alpha amylase of the sclerotium of Pleurotus tuber-regium was studied. The enzyme was purified from the fresh sclerotium through dialysis, ammonium sulphate fractionation and column chromatography of CM sephadex. The enzyme showed 70% of it's optimal activity between p.H 4.0 to 8.0. Acid and thermal stability ...

  14. Covalent structures of potato tuber lipases (patatins) and implications for vacuolar import

    DEFF Research Database (Denmark)

    Welinder, Karen Gjesing; Jørgensen, Malene

    that the path is via the Golgi apparatus. However, the vacuolar targeting signal has never been identified for this storage and defence protein, which amounts to 25-40% of tuber protein. We propose that a six-residue ct-propeptide, -ANKASY-COO- composes this signal. The crystallographic structure...... the Danish Research Council for Technology and Production, and grant 2052-03-0022 from the Danish Research Agency.   Reference Welinder KG, Jørgensen M (2009) Covalent structures of potato tuber lipases (patatins) and implications for vacuolar import. J. Biol. Chem., Feb 2009; doi:10.1074/jbc.M809674200....

  15. Effect of application of Chlorpropham in sprouting of olluco tubers (Ullucus tuberosus L. under storage

    Directory of Open Access Journals (Sweden)

    Isaac Aliaga

    2011-06-01

    Full Text Available It was evaluated the effect of Chlorpropham on the sprouting of root’s tubers vegetables (Ullucus tuberosum L. Tarmeño variety during storage at 15 °C and RH of 85 %, the treatments were 0, 5, 10, 20 and 30 mg of Chlorpropham / kg of tubers, in a completely random design with 4 repetitions. After 60 days of storage the sprouts, length for the control without Chlorpropham was 9.63 cm and for the treatments with Chlorpropham from 0.22 to 0.71 cm after 90 days the length of the sprouts were kept the same and some of them began to dry up, except the control where increased in size from 15 to 20 cm. After 90 days of storage, weight loss for the treatments with Chlorpropham was averaged of 21 % and for the witness of 37.35 %. All Chlorpropham treatments showed a lower number of sprouts per tuber, lower length of buds, fewer number of tubers with sprouts and less weight loss, with a p <0.05, Duncan test showed don’t exist significant differences between treatments with Chlorpropham for the assessed variables, but significant differences with the control treatment

  16. Matrix metalloproteinases: a review of their structure and role in systemic sclerosis.

    Science.gov (United States)

    Peng, Wen-jia; Yan, Jun-wei; Wan, Ya-nan; Wang, Bing-xiang; Tao, Jin-hui; Yang, Guo-jun; Pan, Hai-feng; Wang, Jing

    2012-12-01

    Matrix metalloproteinases (MMPs) are the main enzymes involved in arterial wall extracellular matrix (ECM) degradation and remodeling, whose activity has been involved in various normal and pathologic processes, such as inflammation, fibrosis. As a result, the MMPs have come to consider as both therapeutic targets and diagnostic tools for the treatment and diagnosis of autoimmune diseases, including systemic lupus erythematosus and rheumatoid arthritis. Systemic sclerosis (SSc) is a rare autoimmune disease of unknown etiology characterized by an excessive over-production of collagen and other ECM, resulting in skin thickening and fibrosis of internal organs. In recent years, abnormal expression of MMPs has been demonstrated with the pathogenesis of SSc, and the association of different polymorphisms on MMPs genes with SSc has been extensively studied. This review describes the structure, function and regulation of MMPs and shortly summarizes current understanding on experimental findings, genetic associations of MMPs in SSc.

  17. Decision-Making in Multiple Sclerosis Patients: A Systematic Review

    Directory of Open Access Journals (Sweden)

    Mireille Neuhaus

    2018-01-01

    Full Text Available Background. Multiple sclerosis (MS is frequently associated with cognitive and behavioural deficits. A growing number of studies suggest an impact of MS on decision-making abilities. The aim of this systematic review was to assess if (1 performance of MS patients in decision-making tasks was consistently different from controls and (2 whether this modification was associated with cognitive dysfunction and emotional alterations. Methods. The search was conducted on Pubmed/Medline database. 12 studies evaluating the difference between MS patients and healthy controls using validated decision-making tasks were included. Outcomes considered were quantitative (net scores and qualitative measurements (deliberation time and learning from feedback. Results. Quantitative and qualitative decision-making impairment in MS was present in 64.7% of measurements. Patients were equally impaired in tasks for decision-making under risk and ambiguity. A correlation to other cognitive functions was present in 50% of cases, with the highest associations in the domains of processing speed and attentional capacity. Conclusions. In MS patients, qualitative and quantitative modifications may be present in any kind of decision-making task and can appear independently of other cognitive measures. Since decision-making abilities have a significant impact on everyday life, this cognitive aspect has an influential importance in various MS-related treatment settings.

  18. Decision-Making in Multiple Sclerosis Patients: A Systematic Review.

    Science.gov (United States)

    Neuhaus, Mireille; Calabrese, Pasquale; Annoni, Jean-Marie

    2018-01-01

    Multiple sclerosis (MS) is frequently associated with cognitive and behavioural deficits. A growing number of studies suggest an impact of MS on decision-making abilities. The aim of this systematic review was to assess if (1) performance of MS patients in decision-making tasks was consistently different from controls and (2) whether this modification was associated with cognitive dysfunction and emotional alterations. The search was conducted on Pubmed/Medline database. 12 studies evaluating the difference between MS patients and healthy controls using validated decision-making tasks were included. Outcomes considered were quantitative (net scores) and qualitative measurements (deliberation time and learning from feedback). Quantitative and qualitative decision-making impairment in MS was present in 64.7% of measurements. Patients were equally impaired in tasks for decision-making under risk and ambiguity. A correlation to other cognitive functions was present in 50% of cases, with the highest associations in the domains of processing speed and attentional capacity. In MS patients, qualitative and quantitative modifications may be present in any kind of decision-making task and can appear independently of other cognitive measures. Since decision-making abilities have a significant impact on everyday life, this cognitive aspect has an influential importance in various MS-related treatment settings.

  19. Performance evaluation of extractor cutting blade configuration in Inulin extraction process from Dahlia sp. L tuber

    Science.gov (United States)

    Sundari, E.; Praputri, E.; Marthiana, W.; Jaya, M.

    2018-03-01

    Inulin, a polysaccharide plant-based nutrient, can be isolated from dahlia flower tubers by liquid-solid extraction processes and is generally carried out in an extractor tank equipped with an agitator. To accelerate the diffusion rate of solute from the solid phase (bulk phase) to the external surface (boundary layer) in order to increase yield of inulin, the size reduction of material is required. The purpose of this research was to design the cutting blade needed for dahlia tuber size reduction and investigate the effect of blade types, agitator speed (350, 700, 1050, and 1400 rpm), and configuration of cutting blade to material fineness at 90 minutes of contacting time. The results showed that higher cutting blade speed results in higher cut material fineness rate. The best conditions was achieved by the configuration of two four-blade turbine combined with one three-blade turbine with fineness rate more than 90% in 30 minutes of contacting time at every variation of agitator speed. The cutting blade designed in this study can be used for size reduction purpose of tubers other than dahlia tubers.

  20. Association between systemic lupus erythematosus and multiple sclerosis: lupoid sclerosis

    International Nuclear Information System (INIS)

    Medina, Yimy F; Martinez, Jose B; Fernandez, Andres R; Quintana, Gerardo; Restrepo, Jose Felix; Rondon, Federico; Gamarra, Antonio Iglesias

    2010-01-01

    Multiple sclerosis (MS) and Systemic Lupus Erythematosus (SLE) with/without antiphospholipid syndrome are autoimmune illnesses. It has been described in many occasions the association of these two illnesses and the clinical picture of MS with characteristics of laboratory of SLE. When they affect to the central nervous system they can make it in a defined form for each illness or they can also make it in interposed or combined form of the two illnesses what has been called lupoid sclerosis; making that in some cases difficult the differentiation of the two illnesses and therefore to address the treatment. We present four cases of lupoid sclerosis, discuss the clinical and laboratory characteristics of this entity and we make a differentiation of the multiple sclerosis with the neurological affectation of SLE especially for images and laboratory results.

  1. Detection and eradication of Spongospora subterranea in mini-tuber production tunnels

    Directory of Open Access Journals (Sweden)

    Jacquie E. van der Waals

    2012-05-01

    Full Text Available Powdery scab, a root and tuber disease caused by the pathogen Spongospora subterranea f.sp. subterranea (Sss, poses a major problem to potato producers worldwide because it affects potato quality. Inoculum can be seed-borne or originate from contaminated growing media or contaminated equipment. During 2006, a potato mini-tuber production facility in Ceres in the Western Cape Province of South Africa had an outbreak of powdery scab. The purpose of this study was to detect Sss in the production facility and identify the source or sources of contamination so that corrective measures could be taken to eradicate the pathogen. Swab samples were taken from numerous points in the facility in 2009 and Sss-specific primers (Sps1 and Sps2 were used in a polymerase chain reaction to detect Sss. Of 11 surfaces tested, 6 were positive for Sss. A second set of swab samples was taken after efforts were made to eradicate the pathogen through improved facility hygiene measures to determine whether these corrective measures were efficient. Corrective measures resulted in a disease-free harvest from 2009 onwards. This novel study has value for the mini-tuber industry as production tunnels can be tested for the presence of Sss and other pathogens before planting to ensure that, where suitable control measures are available, disease-free mini-tubers are produced.

  2. Voltammogram of stainless steel/Fe-Co-Ni electrode on water electrolysis in base condition with dahlia pinnata tuber starch media

    Science.gov (United States)

    Isana S. Y., L.; Yuanita, Dewi; Sulistyani, Al, Heru Pratomo

    2017-08-01

    Hydrogen production in a safe, enviromentally friendly, and inexpensive is an attempt to realize energy needs commercially, one of them is electrolysis. Many attempts which relate with water electrolysis had been conducted to produce hydrogen, for example by using wastewater as water substitution. The research is to study the effect of dahlia pinnata tuber starch to stainless steel/Fe-Co-Ni electrode activity on water electrolysis in base condition. Stainless steel/Fe-Co-Ni electrode activity for breaking the water molecules eventually is better than stainless steel electrode, either there is existance of dahlia pinnata tuber starch or not. The presence of dahlia pinnata tuber starch apparently makes the covering on surface of the electrode so the catalytic activity of the electrode is reduced. Covering is mostly affected by dahlia pinnata tuber starch concentration. Wastewater which contains starch, especially dahlia pinnata tuber starch, obviously is not good enough because hydrogen production rate becomes obstructed.

  3. Study of the free and proteic amino acids content in potato tubers by four different methods of preservation, and stored during five months

    International Nuclear Information System (INIS)

    Fernandez Gonzalez, J.; Aguirre Alfaro, A.

    1976-01-01

    The qualitative and quantitative content in free and proteic amino acids of the potato tubers stored during five months are studied. The results obtained in tubers treated with maleic hydrazide, isopropyl carbanilate (IPC), refrigeration and gamma irradiation, are compared with those from control tubers without treatment. There are no significant differences in the relative proportion of the amino acids from the tubers treated by different methods, but significant differences do exist when compared with the untreated controls

  4. Auxin synthesis gene tms1 driven by tuber-specific promoter alters hormonal status of transgenic potato plants and their responses to exogenous phytohormones.

    Science.gov (United States)

    Kolachevskaya, Oksana O; Sergeeva, Lidiya I; Floková, Kristyna; Getman, Irina A; Lomin, Sergey N; Alekseeva, Valeriya V; Rukavtsova, Elena B; Buryanov, Yaroslav I; Romanov, Georgy A

    2017-03-01

    Ectopic auxin overproduction in transgenic potato leads to enhanced productivity accompanied with concerted and occasional changes in hormonal status, and causing altered response of transformants to exogenous auxin or cytokinin. Previously, we generated potato transformants expressing Agrobacterium-derived auxin synthesis gene tms1 driven by tuber-specific patatin gene promoter (B33-promoter). Here, we studied the endogenous hormonal status and the response to exogenous phytohormones in tms1 transformants cultured in vitro. Adding indole-3-acetic acid (IAA) or kinetin to culture medium affected differently tuberization of tms1-transformed and control plants, depending also on sucrose content in the medium. Exogenous phytohormones ceased to stimulate the tuber initiation in transformants at high (5-8%) sucrose concentration, while in control plants the stimulation was observed in all experimental settings. Furthermore, exogenous auxin partly inhibited the tuber initiation, and exogenous cytokinin reduced the average tuber weight in most transformants at high sucrose content. The elevated auxin level in tubers of the transformants was accompanied with a decrease in content of cytokinin bases and their ribosides in tubers and most shoots. No concerted changes in contents of abscisic, jasmonic, salicylic acids and gibberellins in tubers were detected. The data on hormonal status indicated that the enhanced productivity of tms1 transformants was due to auxin and not mediated by other phytohormones. In addition, exogenous cytokinin was shown to upregulate the expression of genes encoding orthologs of auxin receptors. Overall, the results showed that tms1 expression and local increase in IAA level in transformants affect both the balance of endogenous cytokinins and the dynamics of tuberization in response to exogenous hormones (auxin, cytokinin), the latter reaction depending also on the carbohydrate supply. We introduce a basic model for the hormonal network

  5. Effects of Liriopis Tuber Herbal-Acupuncture on Diabetes Mellitus Induced by Streptozotocin in Rat

    Directory of Open Access Journals (Sweden)

    Park, Jae-Young

    2000-12-01

    Full Text Available This study was carried out to investigate the effects of Liriopis Tuber Herbal-Acupuncture on Diabetes Mellitus induced by streptozotocin in rat. Body weight, serum insulin, glucose, triglyceride, HDL cholesterol, free cholesterol and total protein were measured in streptozotocin induced diabetic rat injected with Liriopis Tuber Herbal-Acupuncture solution at Pisu(BL20 respectively for 30 days. In order to study the effects of Liriopis Tuber Herbal-Acupuncture at Pisu(BL20 on Diabetes Mellitus induced by Streptozotocin in rat, The groups were divided into five groups; Normal group(non treated group, N.-Saline group(administration of injection with normal saline at BL20 in 30 days after streptozotocin injection, Control group(non treated group after streptozotocin injection, H. Acup. group (administration of Liriopis Tuber Herbal-Acupuncture at BL20 in 30 days after streptozotocin injection, and Acup. group (administration of acupuncture at BL20 in 30 days after streptozotocin injection. The results obtained were summarized as follows; 1. As compared with Control group, there wae no significant tendency to diminish the rate of weight loss in H. - Acup. group. 2. As compared with Control group, there wae signiticant increase of serum insulin level in H. -Acup. group. 3. As compared with Control group, there was decrease of glucose level in H.- Acup. group. 4. As compared with Control group, there was decrease of triglyceride level in H. - Acup. group. 5. As compared with Control group, trere wae increase of HDL cholesterol level in H. - Acup. group. 6. As compared with Control group, there was significant increase of free cholesterol level in H. - Acup. group. 7. As compared with Control group, there was Increase of total protein level in H. - Acup. group. According to above mentioned results, Liriopis Tuber Herbal-Acupuncture was expected to be effective in treatment of Diabetes Mellitus and its complications

  6. Economics of Mini tuber Seed Yam Production Technique in South ...

    African Journals Online (AJOL)

    Marcel

    Socio-economic studies on yam production conducted in Nigeria include Lageman (1977) .... the profitability of the mini tuber seed yam production technique as a guide .... production (with particular reference to Root Crops in the West Indies).

  7. Effects of the length of inundation periods on investment in tuber biomass and sexual reproduction by Vallisneria spinulosa S.Z. Yan Ramets

    Directory of Open Access Journals (Sweden)

    Fox A.D.

    2014-05-01

    Full Text Available Modification and reductions in flows are reducing inundation times in some Yangtze River wetlands, potentially affecting the growth of submerged macrophytes. The effects of shortening the inundation period from April to October (control to April to September (treatment were tested on the production of surface and below-ground tubers and fruits in individual Vallisneria spinulosa ramets in microcosm experiments. Mean numbers of below-ground tubers produced did not differ significantly between treatments, but individual tuber dry mass was significantly greater when harvested in October compared with plants harvested in September. Significantly more surface tubers were initiated by the ramets in the later harvest, but these did not differ in dry mass. Fewer ramets had initiated sexual reproduction by the September harvest compared with the October harvest. Almost all October fruits were mature, while the ratio of mature to unripe fruits was significantly greater than in September. There was no support for the hypothesis that more tubers were initiated deeper in the substrate with a longer inundation period to avoid predation by fish or birds. Based on these results, shortening of the inundation periods experienced by Vallisneria spinulosa plants in Yangtze River ephemeral wetlands may reduce the dry biomass of below-ground tubers and the production of surface tubers in this keystone macrophyte.

  8. Cytosolic glyceraldehyde-3-phosphate dehydrogenases play crucial roles in controlling cold-induced sweetening and apical dominance of potato (Solanum tuberosum L.) tubers.

    Science.gov (United States)

    Liu, Tengfei; Fang, Hui; Liu, Jun; Reid, Stephen; Hou, Juan; Zhou, Tingting; Tian, Zhendong; Song, Botao; Xie, Conghua

    2017-12-01

    Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is an important enzyme that functions in producing energy and supplying intermediates for cellular metabolism. Recent researches indicate that GAPDHs have multiple functions beside glycolysis. However, little information is available for functions of GAPDHs in potato. Here, we identified 4 putative cytosolic GAPDH genes in potato genome and demonstrated that the StGAPC1, StGAPC2, and StGAPC3, which are constitutively expressed in potato tissues and cold inducible in tubers, encode active cytosolic GAPDHs. Cosuppression of these 3 GAPC genes resulted in low tuber GAPDH activity, consequently the accumulation of reducing sugars in cold stored tubers by altering the tuber metabolite pool sizes favoring the sucrose pathway. Furthermore, GAPCs-silenced tubers exhibited a loss of apical dominance dependent on cell death of tuber apical bud meristem (TAB-meristem). It was also confirmed that StGAPC1, StGAPC2, and StGAPC3 interacted with the autophagy-related protein 3 (ATG3), implying that the occurrence of cell death in TAB-meristem could be induced by ATG3 associated events. Collectively, the present research evidences first that the GAPC genes play crucial roles in diverse physiological and developmental processes in potato tubers. © 2017 John Wiley & Sons Ltd.

  9. Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature.

    Science.gov (United States)

    Algahtani, Hussein; Alameer, Seham; Marzouk, Yousef; Shirah, Bader

    2018-04-01

    Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis. In this paper, we report a patient who presented with neurological dysfunction and coma in the immediate postpartum period. She was misdiagnosed for many years as a case of multiple sclerosis. The importance of reporting this case is to illustrate that the wrong diagnosis of patients as being affected with multiple sclerosis for many years due to magnetic resonance imaging abnormalities rather than the classic relapsing-remitting nature of the disease may lead to catastrophic consequences. The patient was treated with intravenous steroids several times, which is contraindicated in patients with urea cycle disorders as it may precipitate acute hyperammonemic attacks. In addition, the management of urea cycle disorder could have started earlier and avoided multiple admissions to the intensive care unit. We believe that the presence of symmetric hyperintense insular cortical changes are seen in multiple hyperammonemic processes, and in the context of the clinical presentation and high ammonia levels can be suggestive of a urea cycle disorder. For any patient presenting with atypical clinical features, images should be reviewed and discussed in detail with an experienced neuroradiologist. In addition, the ammonia levels should be checked if a urea cycle disorder is suspected.

  10. Percutaneous high-frequency selective rhizotomy in the trigeminal neuralgia therapy in multiple sclerosis

    Directory of Open Access Journals (Sweden)

    V. M. Tyurnikov

    2012-01-01

    Full Text Available Trigeminal neuralgia is a rare symptom of multiple sclerosis affecting the disability. Multiple sclerosis related trigeminal neuralgia has been attributed to a demyelinating lesion in the pons. When the adequate pain drug-relieve therapy is not possible or when the patient becomes refractory to the treatment or can not continue pharmacological treatment because of the side effects, surgical intervention, including percutaneous radiofrequency rhizotomy is being discussed. Literature review and the data upon the efficiency and safety of this neurosurgical treatment in 16 patients with multiple sclerosis have been analyzed. Percutaneous radiofrequency rhizotomy has been proved to be a safe, reproducible and effective method of the symptomatic surgical treatment of trigeminal neuralgia in patients with multiple sclerosis in cases of the intolerance/inefficiency of the pharmacological therapy.

  11. Plant Growth Research for Food Production: Development and Testing of Expandable Tuber Growth Module

    Science.gov (United States)

    Cordova, Brennan A.

    2017-01-01

    Controlled and reliable growth of a variety of vegetable crops is an important capability for manned deep space exploration systems for providing nutritional supplementation and psychological benefits to crew members. Because current systems have been limited to leafy vegetables that require minimal root space, a major goal for these systems is to increase their ability to grow new types of crops, including tuber plants and root vegetables that require a large root space. An expandable root zone module and housing was developed to integrate this capability into the Veggie growth system. The expandable module uses a waterproof, gas-permeable bag with a structure that allows for root space to increase vertically throughout the growth cycle to accommodate for expanding tuber growth, while minimizing the required media mass. Daikon radishes were chosen as an ideal tuber crop for their subterraneous tuber size and rapid growth cycle, and investigations were done to study expanding superabsorbent hydrogels as a potential growth media. These studies showed improved water retention, but restricted oxygen availability to roots with pure gel media. It was determined that these hydrogels could be integrated in lower proportions into standard soil to achieve media expansion and water retention desired. Using the constructed module prototype and ideal gel and soil media mixture, Daikon radishes were grown in the system to test the capability and success of the system through a full growth cycle.

  12. Study of the free and proteic amino acids content in potato tubers by fours different methods of preservation, and stored during five months

    International Nuclear Information System (INIS)

    Fernandez Gonzalez, J.; Aguirre Alfaro, A.

    1976-01-01

    The present work studies the qualitative and quantitative content in free and proteic aminoacids of the potato tubers stored during five months. The results obtained in tubers treated with maleic hydrazide, isopropyl carbanilate (IPC), refrigeration and gamma irradiation, are compared with those from tubers control without treatment. There are no significant differences in the relative proportion of the aminoacids from the tubers treated by different methods, but they do exist significant differences when compared with the non treated controls. (Author) 46 refs

  13. Potato (Solanum tuberosum L.) tuber ageing induces changes in the proteome and antioxidants associated with the sprouting pattern

    NARCIS (Netherlands)

    Delaplace, P.; Fauconnier, M.L.; Sergeant, K.; Dierick, J.F.; Oufir, M.; Wal, van der F.; America, A.H.P.; Renaut, J.; Hausman, J.F.; Jardin, du P.

    2009-01-01

    During post-harvest storage, potato tubers age as they undergo an evolution of their physiological state influencing their sprouting pattern. In the present study, physiological and biochemical approaches were combined to provide new insights on potato (Solanum tuberosum L. cv. Desiree) tuber

  14. A global meta-analysis of Tuber ITS rDNA sequences: species diversity, host associations and long-distance dispersal

    Science.gov (United States)

    Gregory M. Bonito; Andrii P. Gryganskyi; James M. Trappe; Rytas. Vilgalys

    2010-01-01

    Truffles (Tuber) are ectomycorrhizal fungi characterized by hypogeous fruitbodies. Their biodiversity, host associations and geographical distributions are not well documented. ITS rDNA sequences of Tuber are commonly recovered from molecular surveys of fungal communities, but most remain insufficiently identified making it...

  15. Search paths of swans foraging on spatially autocorrelated tubers

    NARCIS (Netherlands)

    Nolet, B.A.; Mooij, W.M.

    2002-01-01

    1. Tundra swans forage on below-ground pondweed tubers that are heterogeneously distributed in space. The swans have no visual cues to delineate patches. It was tested whether swans employ an area-restricted search tactic. Theory predicts that swans should alternate between an intensive (low-speed,

  16. Diagnóstico Tardio de Esclerose Tuberosa

    Directory of Open Access Journals (Sweden)

    Catarina Oliveira

    2016-03-01

    Full Text Available Tuberous sclerosis (also referred to as Tuberous Sclerosis Complex is an autosomal dominant neurocutaneous syndrome that can involve multiple organs such as the brain, heart, kidney, lung, liver, skin and eye. The diagnosis is clinical and most patients are identified during childhood, in the context of a severe epileptic or neuropsychiatric disorder. Here we report a case of TSC diagnosed in an adult woman with dermatological and vascular involvement that were only recognized as manifestations of TSC after the diagnosis of her infant daughter. This case highlights how important it is that physicians recognize the full spectrum of manifestations of TSC, including the most unusual, so not to miss the diagnosis

  17. lessons from tuberous sclerosis complex

    African Journals Online (AJOL)

    intellectual disability, autism, specific learning disorders) and mental health disorders (e.g. depression, psychosis and anxiety disorders). The first lesson, therefore, is ... of an adolescent with TSC, facial angiofibromas and a presumed fat-poor ...

  18. Tuberous Sclerosis Complex National Database

    Science.gov (United States)

    2006-10-01

    attendees and a live demonstration was conducted. User manuals were also distributed. Simultaneously with DB development, TSA has revised a...Meconium present Low Apgar scores 1-minute score _____ Unknown 5-minute score _____ Unknown Resuscitation: Major Minor...this system manually , even if that data ap- pears in an electronic medical record. No Development of Questionnaire The TSA may choose to use a

  19. lessons from tuberous sclerosis complex

    African Journals Online (AJOL)

    lot by studying and treating rare disorders, sometimes with profound clinical consequences. A careful look will identify ... and high rates of Alzheimer's disease, which led to the discovery of the molecular basis of familial ... diagnosis, monitoring and treatment of TSC,[14,15] we set out to draft a clinical update summarising an ...

  20. HRE-type genes are regulated by growth-related changes in internal oxygen concentrations during the normal development of potato (Solanum tuberosum) tubers.

    Science.gov (United States)

    Licausi, Francesco; Giorgi, Federico Manuel; Schmälzlin, Elmar; Usadel, Björn; Perata, Pierdomenico; van Dongen, Joost Thomas; Geigenberger, Peter

    2011-11-01

    The occurrence of hypoxic conditions in plants not only represents a stress condition but is also associated with the normal development and growth of many organs, leading to adaptive changes in metabolism and growth to prevent internal anoxia. Internal oxygen concentrations decrease inside growing potato tubers, due to their active metabolism and increased resistance to gas diffusion as tubers grow. In the present work, we identified three hypoxia-responsive ERF (StHRE) genes whose expression is regulated by the gradual decrease in oxygen tensions that occur when potato tubers grow larger. Increasing the external oxygen concentration counteracted the modification of StHRE expression during tuber growth, supporting the idea that the actual oxygen levels inside the organs, rather than development itself, are responsible for the regulation of StHRE genes. We identified several sugar metabolism-related genes co-regulated with StHRE genes during tuber development and possibly involved in starch accumulation. All together, our data suggest a possible role for low oxygen in the regulation of sugar metabolism in the potato tuber, similar to what happens in storage tissues during seed development.

  1. Systematic review of the published data on the worldwide prevalence of John Cunningham virus in patients with multiple sclerosis and neuromyelitis optica.

    Science.gov (United States)

    Paz, Sonia Patricia Castedo; Branco, Luciana; Pereira, Marina Alves de Camargo; Spessotto, Caroline; Fragoso, Yara Dadalti

    2018-01-01

    John Cunningham virus (JCV) is a polyoma virus that infects humans, mainly in childhood or adolescence, and presents no symptomatic manifestations. JCV can cause progressive multifocal leukoencephalopathy (PML) in immunosuppressed individuals, including those undergoing treatment for multiple sclerosis (MS) and neuromyelitis optica (NMO). PML is a severe and potentially fatal disease of the brain. The prevalence of JCV antibodies in human serum has been reported to be between 50.0 and 90.0%. The aim of the present study was to review worldwide data on populations of patients with MS and NMO in order to establish the rates of JCV seropositivity in these individuals. The present review followed the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines and used the following search terms: "JCV" OR "JC virus" AND "multiple sclerosis" OR "MS" OR "NMO" OR "neuromyelitis optica" AND "prevalence." These terms were searched for both in smaller and in larger clusters of words. The databases searched included PubMed, MEDLINE, SciELO, LILACS, Google Scholar, and Embase. After the initial selection, 18 papers were included in the review. These articles reported the prevalence of JCV antibodies in the serum of patients with MS or NMO living in 26 countries. The systematic review identified data on 29,319 patients with MS/NMO and found that 57.1% of them (16,730 individuals) were seropositive for the anti-JCV antibody (range, 40.0 to 69.0%). The median worldwide prevalence of JCV among adults with MS or NMO was found to be 57.1%.

  2. Genetic diversity and germplasm conservation of three minor Andean tuber crop species

    Directory of Open Access Journals (Sweden)

    Malice M.

    2009-01-01

    Full Text Available In traditional Andean agrosystems, three minor tuber crop species are of regional or local importance: oca (Oxalis tuberosa Molina, ulluco (Ullucus tuberosus Caldas and mashua (Tropaeolum tuberosum Ruiz and Pav.. Genetic diversity within these species is very large and could result from the high ecological and cultural variability that characterizes the Andean area. Nowadays, many anthropic or ecological factors cause the loss of diversity and contribute to genetic erosion. The development of conservation strategies for genetic resources of Andean tubers, in situ as well as ex situ, includes a better knowledge of diversity in addition to the study of Andean farming strategies linked to this genetic diversity.

  3. Influence of thermal hydrolysis and inorganic medium on the alcohol yield from tubers of Jerusalem artichoke

    Energy Technology Data Exchange (ETDEWEB)

    Wlodarczyk, Z; Backman, B

    1961-01-01

    The thermal hydrolysis of Helianthus tuberosus tubers was performed in a steamer within 30 minutes (the most suitable pressure was 2 atmosphere.). The addition of 225 to 280g (NH/sub 4/)/sub 2/SO/sub 4/ (48 to 60 g N)/100 kg of tubers accelerated the fermentation process of the resulting mash with reference to controls by 5 to 10% on the second day and by 3 to 8% on the third day. (Schizosaccharomyces pombe or Saccharomyces cerevisiae yeasts were used; the temperature was 34/sup 0/, yield of alcohol, 200 l/100 kg of tubers). Addition of 22 to 110 g. P/sub 2/O/sub 5/(as K/sub 2/HPO/sub 4/) did not influence the yield of ethanol.

  4. Temporal lobe sclerosis associated with hippocampal sclerosis in temporal lobe epilepsy: neuropathological features.

    Science.gov (United States)

    Thom, Maria; Eriksson, Sofia; Martinian, Lillian; Caboclo, Luis O; McEvoy, Andrew W; Duncan, John S; Sisodiya, Sanjay M

    2009-08-01

    Widespread changes involving neocortical and mesial temporal lobe structures can be present in patients with temporal lobe epilepsy and hippocampal sclerosis. The incidence, pathology, and clinical significance of neocortical temporal lobe sclerosis (TLS) are not well characterized. We identified TLS in 30 of 272 surgically treated cases of hippocampal sclerosis. Temporal lobe sclerosis was defined by variable reduction of neurons from cortical layers II/III and laminar gliosis; it was typically accompanied by additional architectural abnormalities of layer II, that is, abnormal neuronal orientation and aggregation. Quantitative analysis including tessellation methods for the distribution of layer II neurons supported these observations. In 40% of cases, there was a gradient of TLS with more severe involvement toward the temporal pole, possibly signifying involvement of hippocampal projection pathways. There was a history of a febrile seizure as an initial precipitating injury in 73% of patients with TLS compared with 36% without TLS; no other clinical differences between TLS and non-TLS cases were identified. Temporal lobe sclerosis was not evident preoperatively by neuroimaging. No obvious effect of TLS on seizure outcome was noted after temporal lobe resection; 73% became seizure-free at 2-year follow-up. In conclusion, approximately 11% of surgically treated hippocampal sclerosis is accompanied by TLS. Temporal lobe sclerosis is likely an acquired process with accompanying reorganizational dysplasia and an extension of mesial temporal sclerosis rather than a separate pathological entity.

  5. Multiple sclerosis

    International Nuclear Information System (INIS)

    Grunwald, I.Q.; Kuehn, A.L.; Backens, M.; Papanagiotou, P.; Shariat, K.; Kostopoulos, P.

    2008-01-01

    Multiple sclerosis is the most common chronic inflammatory disease of myelin with interspersed lesions in the white matter of the central nervous system. Magnetic resonance imaging (MRI) plays a key role in the diagnosis and monitoring of white matter diseases. This article focuses on key findings in multiple sclerosis as detected by MRI. (orig.) [de

  6. A review of complementary and alternative medicine (CAM) by people with multiple sclerosis.

    Science.gov (United States)

    Olsen, Sherri A

    2009-01-01

    Multiple sclerosis (MS) is a chronic, unpredictable disease of the central nervous system without a known cure. Because of this, people with MS often seek complementary and alternative medicines (CAM) to manage their disease symptoms. The goal of this review article was to describe the use of CAM by individuals diagnosed with MS. Evidence was obtained by searching Medline (1950-2007), EBSCOhost and PubMed for studies relating CAM to MS. Results from the literature showed that people with MS reported that they used CAM from 27 to 100%. The major reasons for choosing CAM were as follows: conventional treatment was not effective, anecdotal reports of CAM's help, and doctor referral. The types of CAM reported by people with MS included exercise, vitamins, herbal and mineral supplements, relaxation techniques, acupuncture, cannabis and massage. The major symptoms treated by CAM as noted in the literature were pain, fatigue and stress. There is a need for further research to evaluate the effectiveness of CAM with MS patients and their application by occupational therapists. The limitation of this literature review was the low response rate in many of the surveys reported. 2009 John Wiley & Sons, Ltd

  7. Incidence of multiple sclerosis among European Economic Area populations, 1985-2009: the framework for monitoring

    Science.gov (United States)

    2013-01-01

    Background A debate surrounding multiple sclerosis epidemiology has centred on time-related incidence increases and the need of monitoring. The purpose of this study is to reassess multiple sclerosis incidence in the European Economic Area. Methods We conducted a systematic review of literature from 1965 onwards and integrated elements of original research, including requested or completed data by surveys authors and specific analyses. Results The review of 5323 documents yielded ten studies for age- and sex-specific analyses, and 21 studies for time-trend analysis of single data sets. After 1985, the incidence of multiple sclerosis ranged from 1.12 to 6.96 per 100,000 population, was higher in females, tripled with latitude, and doubled with study midpoint year. The north registered increasing trends from the 1960s and 1970s, with a historic drop in the Faroe Islands, and fairly stable data in the period 1980-2000; incidence rose in Italian and French populations in the period 1970-2000, in Evros (Greece) in the 1980s, and in the French West Indies in around 2000. Conclusions We conclude that the increase in multiple sclerosis incidence is only apparent, and that it is not specific to women. Monitoring of multiple sclerosis incidence might be appropriate for the European Economic Area. PMID:23758972

  8. Observations on arbuscular mycorrhiza associated with important edible tuberous plants grown in wet evergreen forest in Assam, India

    Directory of Open Access Journals (Sweden)

    RAJA RISHI

    2013-10-01

    Full Text Available Kumar R, Tapwal A, Pandey S, Rishi R, Borah D. 2013. Observations on arbuscular mycorrhiza associated with important edible tuberous plants grown in wet evergreen forest in Assam, India. Biodiversitas 14: 67-72. Non-timber forest products constitute an important source of livelihood for rural households from forest fringe communities across the world. Utilization of wild edible tuber plants is an integral component of their culture. Mycorrhizal associations influence the establishment and production of tuber plants under field conditions.The aim of present study is to explore the diversity and arbuscular mycorrhizal (AMF colonization of wild edible tuber plants grown in wet evergreen forest of Assam, India. A survey was conducted in 2009-10 in Sunaikuchi, Khulahat, and Bura Mayong reserved forest of Morigaon district of Assam to determine the AMF spore population in rhizosphere soils and root colonization of 14 tuberous edible plants belonging to five families. The results revealed AMF colonization of all selected species in all seasons. The percent colonization and spore count was less in summer, moderate in winter and highest in rainy season. Seventeen species of arbuscular mycorrhizal fungi were recorded in four genera viz. Acaulospora (7 species, Glomus (5 species, Sclerocystis (3 species and Gigaspora (2 species.

  9. Polysaccharide composition of raw and cooked chayote (Sechium edule Sw.) fruits and tuberous roots.

    Science.gov (United States)

    Shiga, Tânia M; Peroni-Okita, Fernanda Helena Gonçalves; Carpita, Nicholas C; Lajolo, Franco Maria; Cordenunsi, Beatriz Rosana

    2015-10-05

    Chayote is a multipurpose table vegetable widely consumed in Latin America countries. Chayote fruits, leaves and tuberous roots contain complex carbohydrates as dietary fiber and starch, vitamins and minerals. The complex polysaccharides (cell walls and starch) were analyzed in the black and green varieties of chayote fruits as well as in green chayote tuberous root before and after a controlled cooking process to assess changes in their composition and structure. The monosaccharide composition and linkage analysis indicated pectins homogalacturonans and rhamnogalacturonan I backbones constitute about 15-20% of the wall mass, but are heavily substituted with, up to 60% neutral arabinans, galactans, arabinogalactans. The remainder is composed of xyloglucan, glucomannans and galactoglucomannans. Chayote cell-wall polysaccharides are highly stable under normal cooking conditions, as confirmed by the optical microscopy of wall structure. We found also that tuberous roots constitute a valuable additional source of quality starch and fiber. Published by Elsevier Ltd.

  10. Balo`s concentric sclerosis; value of magnetic resonance imaging in diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Singh, S.; Kuruvilla, A.; Korah, I.P. [Christian Medical College and Hospital, Vellore, Tamilnadu, (India). Department of Radiodiagnosis; Alexander, M. [Christian Medical College and Hospital, Vellore, Tamilnadu, (India). Department of Neurosciences

    1999-08-01

    We report two cases of Balo`s concentric sclerosis that demonstrate the typical magnetic resonance imaging (MRI) findings of concentric rings of demyelination involving the superficial and deep white matter and sparing the cortex. In both cases biopsy was not performed as MRI findings and multi-mode evoked potential studies were consistent with demyelinating illness. The theories regarding the pathogenesis of this peculiar appearance are briefly reviewed. Balo`s concentric sclerosis is a very rare type of demyelinating disease characterized pathologically by large alternating lamellae of demyelinated and myelinated white matter arranged in a concentric pattern. This progressive disease is more often found in young male adults and is more common in the Philippines. Balo`s concentric sclerosis is considered an unusual variant of multiple sclerosis (MS); however, some authors believe it to be a different entity. Although the pathogenesis of the concentric sclerosis is debated, the cause of demyelination is generally presumed to be the same as that of multiple sclerosis. There is striking resemblance between the magnetic resonance (MR) appearance and the histopathological features of MS. Not all cases may show a typical MR appearance. Prior to MR imaging, most of them were diagnosed at post-mortem. To our knowledge, few cases have been diagnosed by MR imaging in life. Copyright (1999) Blackwell Science Pty Ltd 15 refs., 2 figs.

  11. effect of climate on yam tuberization in the guinea savanna

    African Journals Online (AJOL)

    Osondu

    The response of yam tuber development to its micro-climate was monitored at the National. Centre for Agricultural .... when the sky isusually overcast by a low cumulus cloud thus blocking the earth surface from direct impact of solar radiation.

  12. Determination of total phenolic content and antioxidant activitity of methanol extract of Maranta arundinacea L fresh leaf and tuber

    Science.gov (United States)

    Kusbandari, A.; Susanti, H.

    2017-11-01

    Maranta arundinacea L is one of herbaceous plants in Indonesia which have flavonoid content. Flavonoids has antioxidants activity by inhibition of free radical oxidation reactions. The study aims were to determination total phenolic content and antioxidant activity of methanol extract of fresh leaf and tuber of M. arundinacea L by UV-Vis spectrophotometer. The methanol extracts were obtained with maceration and remaseration method of fresh leaves and tubers. The total phenolic content was assayed with visible spectrophotometric using Folin Ciocalteau reagent. The antioxidant activity was assayed with 1,1-diphenyl-2-picrilhidrazil (DPPH) compared to gallic acid. The results showed that methanol extract of tuber and fresh leaf of M. arundinacea L contained phenolic compound with total phenolic content (TPC) in fresh tuber of 3.881±0.064 (% GAE) and fresh leaf is 6.518±0.163 (% b/b GAE). IC50 value from fresh tuber is 1.780±0.0005 μg/mL and IC50 fresh leaf values of 0.274±0.0004 μg/mL while the standard gallic acid is IC50 of 0.640±0.0002 μg/mL.

  13. Chemical Composition and Characteristic Odor Compounds in Essential Oil from Alismatis Rhizoma (Tubers of Alisma orientale).

    Science.gov (United States)

    Miyazawa, Mitsuo; Yoshinaga, Seiji; Kashima, Yusei; Nakahashi, Hiroshi; Hara, Nobuyuki; Nakagawa, Hiroki; Usami, Atsushi

    2016-01-01

    Chemical composition and potent odorants that contribute to the characteristic odor of essential oil from Alismatis Rhizoma (tubers of Alisma orientale) were investigated by gas chromatography-mass spectrometry (GC-MS), GC-olfactometry (GC-O), aroma extract dilution analysis (AEDA) and relative flavor activity (RFA) methods. Fifty components, representing 94.5% of the total oil, were identified. In this study, we newly identified thirty-nine compounds in the oil from tubers of A. orientale. The major constituents of the essential oil were khusinol (36.2%), δ-elemene (12.4%), germacron (4.1%), alismol (3.8%), β-elemene (3.1%), and α-bisabolol (1.9%). Through sensory analysis, sixteen aroma-active compounds were detected and the key contributing aroma-active compounds were δ-elemene (woody, flavor dilution (FD)-factor = 4, RFA = 0.3) β-elemene (spicy, FD = 5, RFA = 0.7), spathulenol (green, FD = 5, RFA = 1.0), γ-eudesmol (woody, FD = 6, RFA = 1.5), and γ-cadinol (woody, FD = 5, RFA = 1.0). These compounds are thought to contribute to the odor from tubers of A. orientale. These results imply that the essential oil from the tubers of A. orientale deserve further investigations in the phytochemical and medicinal fields.

  14. Transgenic potato (Solanum tuberosum) tubers synthesize the full spectrum of inulin molecules naturally occurring in globe artichoke (Cynara scolymus) roots

    Science.gov (United States)

    Hellwege, Elke M.; Czapla, Sylvia; Jahnke, Anuschka; Willmitzer, Lothar; Heyer, Arnd G.

    2000-01-01

    The ability to synthesize high molecular weight inulin was transferred to potato plants via constitutive expression of the 1-SST (sucrose:sucrose 1-fructosyltransferase) and the 1-FFT (fructan: fructan 1-fructosyltransferase) genes of globe artichoke (Cynara scolymus). The fructan pattern of tubers from transgenic potato plants represents the full spectrum of inulin molecules present in artichoke roots as shown by high-performance anion exchange chromatography, as well as size exclusion chromatography. These results demonstrate in planta that the enzymes sucrose:sucrose 1-fructosyltransferase and fructan:fructan 1-fructosyltransferase are sufficient to synthesize inulin molecules of all chain lengths naturally occurring in a given plant species. Inulin made up 5% of the dry weight of transgenic tubers, and a low level of fructan production also was observed in fully expanded leaves. Although inulin accumulation did not influence the sucrose concentration in leaves or tubers, a reduction in starch content occurred in transgenic tubers, indicating that inulin synthesis did not increase the storage capacity of the tubers. PMID:10890908

  15. Natural production of Tuber aestivum in central Spain: Pinus spp. versus Quercus spp. brûlés

    Science.gov (United States)

    Luis G. Garcia-Montero; Domingo Moreno; Vicente J. Monleon; Fernando Arredondo-Ruiz

    2014-01-01

    Aim of study: Tuber aestivum is the most widespread edible truffle, with increasing commercial interest. This species can produce carpophores with conifer hosts, in contrast with the inability of Pinus spp. to induce fruiting in other truffle species such as Tuber melanosporum. Therefore the objective is to...

  16. Effect of water stress on total biomass, tuber yield, harvest index and water use efficiency in Jerusalem artichoke

    Science.gov (United States)

    The objectives of this study were to determine the effect of drought on tuber yield, total biomass, harvest index, water use efficiency of tuber yield (WUEt) and water use efficiency of biomass (WUEb), and to evaluate the differential responses of Jerusalem artichoke (JA) varieties under drought str...

  17. Effect of genetic modification of potato starch on decomposition of leaves and tubers and on fungal decomposer communities

    NARCIS (Netherlands)

    Hannula, S.E.; De Boer, W.; Baldrian, P.; Van Veen, J.A.

    2013-01-01

    As part of a risk evaluation of growing genetically modified crops, we investigated the effects of a genetic modification of starch quality (increased level of amylopectin) in potato tubers (Solanum Tuberosum L.) on the decomposition of tissues (tubers and leaves) as well as on the associated fungal

  18. influence of treatment of seed potato tubers with plant crude

    African Journals Online (AJOL)

    ACSS

    essential oil extracts, on the growth and yield of the potato crop. Treatments consisted of .... Seed potato tuber treatment with plant crude essential oil extracts. 297 were pipetted on to ..... and clove essential oils on sprout suppression in potato ...

  19. Cytotoxic potential and chromatogram profile of sarang semut tuber (Myrmecodia Pendans Merr. & Perry) after gamma irradiation

    International Nuclear Information System (INIS)

    Ermin Katrin Winarno; Susanto; Hendig Winarno; Siva Fauziah

    2015-01-01

    Sarang semut tuber (Myrmecodia pendans Merr. & Perry) has cytotoxic activity. Preservation efforts of sarang semut tuber was performed with gamma irradiation. The research purposed to study the effect of gamma on cytotoxic activity against leukemia L1210 cell lines and chromatogram profiles of sarang semut tuber (Myrmecodia pendans Merr. & Perry). The dried sarang semut tuber were gamma irradiated with a variety of doses of 5; 7.5; 10; and 15 kGy. The experiments were performed with two replicates for each dose. Then samples were macerated with solvent by gradient polarity with n-hexane, ethyl acetate, and ethanol. Extracts were tested against the leukemia L1210 cell lines. From the results obtained showed that the ethanol extract was the most active against leukemia L1210 cell lines (IC50 9.88 μg/ml) compared with n-heksan (IC50 23.44 μg/ml) and ethyl acetate extract (IC50 17.32 μg/ml). Ethanol extracts were fractionated by column chromatography, the result were obtained 7 fractions. Based on the cytotoxic activity test for each fraction, the fraction 1 had the highest activity (IC50 ≤ 3.23 μg/ml). The identifications of ethanol extract and fraction 1 by CLT-densitometry showed that the spots area increased and decreased after gamma irradiation. The chromatogram profile of fraction 1 showed that the major peak area decreased after irradiation. The maximum irradiation dose without damaging the cytotoxic activity of sarang semut tuber againts leukemia L1210 cell lines was 5 kGy. (author)

  20. Giant cell tumor in long bones: the significance of marginal sclerosis for the differential diagnosis

    International Nuclear Information System (INIS)

    Kim, Hee Jin; Suh, Jin Suck; Park, Chang Yun

    1993-01-01

    Plain radiographs of thirty nine patients with giant cell tumor of long bone and CT scans of twenty patients among the thirty patients were reviewed retrospectively to evaluate the frequency and significance of sclerosis of the tumor margin. The sclerosis of the tumor margin was observed on plain radiographs in thirteen patients(33.3%) and they were located either on epiphyseal or on both epiphyseal or metaphyseal portion of the tumor. The authors concluded that the giant cell tumor should not be excluded from the differential entities even though the tumor has the marginal sclerosis

  1. Fragilización por hidrógeno en tuberías de acero

    OpenAIRE

    Gutiérrez-Solana Salcedo, Federico

    2011-01-01

    Se pretende analizar el comportamiento en presencia de hidrogeno de las tuberías de acero de sistemas de transporte de combustibles gaseosos en uso para ello: 1.- Se estudia la sensibilidad a la fragilización por hidrogeno del acero de estas tuberías por dos métodos diferentes: polarización catódica y ambiente de hidrogeno gaseoso diseñando y construyendo una cámara para ensayos mecánicos en hidrogeno a presión primera de su genero en España. 2.- Se determina la tenacidad a fractura kic de es...

  2. Estructura Robótica Pre-Tensada para Robot en Tuberías Petroleras

    OpenAIRE

    Urdaneta, María Alejandra; García, Cecilia; Saltaren, Roque; Contreras, Gustavo; Ugarte, Rubén

    2012-01-01

    Resumen: En este trabajo se presenta el desarrollo de un robot basado en la estructura Pre-Tensada con el fin de realizar tareas de inspección y mantenimiento en tuberías petroleras. Este tipo de estructura mecánica se caracteriza por su bajo peso y su alta capacidad de adaptación a los diferentes diámetros.La aplicación requiere que el dispositivo desarrollado se desplace verticalmente y a alta velocidad por las tuberías utilizadas en la extracción del petróleo. Cabe destacar que en dichas i...

  3. [A review of multiple sclerosis (1). Presentation of a case].

    Science.gov (United States)

    Martinez-Altarriba, M C; Ramos-Campoy, O; Luna-Calcaño, I M; Arrieta-Antón, E

    2015-01-01

    Multiple sclerosis is a major demyelinating disease of the central nervous system. It has a significant economic and social impact. Its etiology is unclear, although there are several hypotheses, such as infections or genetics. In its pathophysiology, it seems that immune activation attacks the myelin sheath, causing a progressive and irreversible axonal degeneration. The disease produces a variety of symptoms, and diagnosis requires fulfilling a number of criteria and the exclusion of other possible causes. The role of neuroimaging, especially MRI, is very important. Despite the availability of disease-modifying drugs, none of them are able to halt its progress, and the most useful drugs are those designed to alleviate the symptoms of outbreaks. Overall, multiple sclerosis requires a significant effort in research to clarify not only why and how it occurs, but also to develop of new measures to improve the life of affected patients. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Multiple Sclerosis Relapses: Epidemiology, Outcomes and Management. A Systematic Review.

    Science.gov (United States)

    Kalincik, Tomas

    2015-01-01

    Relapses (episodic exacerbations of neurological signs or symptoms) are a defining feature of relapsing-remitting multiple sclerosis (MS), the most prevalent MS phenotype. While their diagnostic value relates predominantly to the definition of clinically definite MS, their prognostic value is determined by their relatively high associated risk of incomplete remission resulting in residual disability. The mechanisms governing a relapse incidence are unknown, but numerous modifiers of relapse risk have been described, including demographic and clinical characteristics, many of which represent opportunities for improved disease management. Also relapse phenotypes have been associated with patient and disease characteristics and an individual predisposition to certain phenotypic presentations may imply individual neuroanatomical disease patterns. While immunomodulatory therapies and corticosteroids represent the mainstay of relapse prevention and acute management, respectively, their effect has only been partial and further search for more efficient relapse therapies is warranted. Other areas of research include pathophysiology and determinants of relapse incidence, recurrence and phenotypes, including the characteristics of the relapsing and non-relapsing multiple sclerosis variants and their responsiveness to therapies. © 2015 S. Karger AG, Basel.

  5. Systemic Sclerosis and Silicone Breast Implant: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Antonios Psarras

    2014-01-01

    Full Text Available Environmentally induced systemic sclerosis is a well-recognized condition, which is correlated with exposure to various chemical compounds or drugs. However, development of scleroderma-like disease after exposure to silicone has always been a controversial issue and, over time, it has triggered spirited debate whether there is a certain association or not. Herein, we report the case of a 35-year-old female who developed Raynaud’s phenomenon and, finally, systemic sclerosis shortly after silicone breast implantation surgery.

  6. Rapid and sensitive detection of potyvirus infecting tropical tuber ...

    African Journals Online (AJOL)

    A reverse transcription polymerase chain reaction assay using potyvirus specific primers designed from the core of the coat protein was carried out, and a cDNA fragment of 327 bp was obtained from most of the potyviruses infecting the tropical tuber crops. Reverse transcription polymerase chain reaction (RT-PCR) ...

  7. Genotype x Environment Interaction for Tuber Yield, Dry Matter ...

    African Journals Online (AJOL)

    A study was conducted to determine stability of tuber yield, dry matter content and specific gravity, and the nature and magnitude of genotype x environment (G x E) interaction in elite tetraploid potato genotypes. Eleven potato genotypes including two standard checks were evaluated in the eastern part of Ethiopia at ...

  8. Cyanide and Aflatoxin Loads of Processed Cassava (Manihot esculenta) Tubers (Garri) in Njaba, Imo State, Nigeria

    Science.gov (United States)

    Chikezie, Paul Chidoka; Ojiako, Okey A.

    2013-01-01

    Objectives: The present study sought to investigate the role of palm oil, in conjunction with the duration of fermentation, on cyanide and aflatoxin (AFT) loads of processed cassava tubers (Garri). Materials and Methods: Matured cassava (Manihot esculenta Crantz) tubers were harvested from three different locations (Akunna, Mkporo-Oji and Durungwu) in Njaba Local Government Area, Imo State, Nigeria. The cassava tubers were processed into Garri according to standard schemes with required modifications and measured for cyanide content using titrimetric methods. Samples of Garri for determination of AFT levels were stored for 30 days before the commencement of spectrophotometric analysis. Results: Cyanide content of peeled cassava tubers was within the range of 4.07 ± 0.16-5.20 ± 0.19 mg hydrocyanic acid (HCN) equivalent/100 g wet weight, whereas the various processed cassava tubers was within the range of 1.44 ± 0.34-3.95 ± 0.23 mg HCN equivalents/100 g. For the 48 h fermentation scheme, Garri treated with palm oil exhibited marginal reduction in cyanide contents by 0.96%, 3.52% and 3.69%, whereas 4 h fermentation scheme is in concurrence with palm oil treatment caused 4.42%, 7.47% and 5.15% elimination of cyanide contents compared with corresponding untreated Garri samples (P > 0.05). Levels of AFT of the various Garri samples ranged between 0.26 ± 0.07 and 0.55 ± 0.04 ppb/100 g. There was no significant difference (P > 0.05) in AFT levels among the various samples in relation to their corresponding sources. Conclusion: The present study showed that the 48 h fermentation scheme for Garri production caused significant (P < 0.05) reduction, but did not obliterate the cyanide content of cassava tubers. Conversely, the 48 h fermentation scheme promoted the elevation of AFT levels, but was relatively reduced in Garri samples treated with palm oil. PMID:24403736

  9. Mycorrhization of pecan trees (Carya illinoinensis) with commercial truffle species: Tuber aestivum Vittad. and Tuber borchii Vittad.

    Science.gov (United States)

    Benucci, Gian Maria Niccolò; Bonito, Gregory; Baciarelli Falini, Leonardo; Bencivenga, Mattia

    2012-07-01

    Pecan (Carya illinoinensis) is an economically important nut tree native to the Mississippi basin and cultivated worldwide. In North America, species of truffles are regularly found fruiting in productive pecan orchards and the truffle genus Tuber appears to be abundant in pecan ectomycorrhizal (EM) communities. As an initial step to determine the feasibility of co-cropping European truffle species with pecan, we evaluated whether mycorrhizae of highly esteemed European truffle species (Tuber aestivum Vittad. T. borchii and T. macrosporum) could be formed on pecan seedlings. Seedlings were inoculated with truffle spores and were grown in a greenhouse for 10 months. Levels of EM colonization were estimated visually and quantified by counting EM tips. Ectomycorrhizae were identified both morphologically and molecularly with species-specific amplification and by sequencing of the ITS region of the nuclear ribosomal DNA (nrDNA). Both T. borchii and T. aestivum spores produced well-formed ectomycorrhizae on pecan seedlings with average root colonization levels of about 62% and 42%, respectively, whereas no ectomycorrhizae of T. macrosporum were formed. The anatomy and morphology of these truffle ectomycorrhizae on pecan was characterized. The co-cropping of T. aestivum and T. borchii may hold promise as an additional stream of revenue to pecan growers, although, further studies are needed to assess whether this symbiosis is maintained after planting in the field and whether truffle production can be supported by this host species.

  10. Variations observed in the respiratory activity of potato tubers (Solanum tuberosum L.) after a treatment with gamma radiation

    International Nuclear Information System (INIS)

    Mazon Matanzo, M. P.; Fernandez Gonzalez, J.

    1976-01-01

    The present work studies the variations in the respiratory activity of irradiated and IPC treated potato tubers during a storage period of five months. By immediate effect of gamma radiation we can observe an increase in the oxygen consumption of the parenchyma in relation with the control tubers, such increase persists even fours months after gamma radiation. The respiratory activity is reduced in the IPC treated tubers. In the tissues cultivated in vitro the respiratory activity increases at the end of the cultivation period, not only in the control tissues but also in the irradiated ones, though this increase is greater in the control tissues. (Author) 15 refs

  11. Variations observed in the respiratory activity of potato tubers (Solanum tuberosum L.) after a treatment with gamma radiation

    International Nuclear Information System (INIS)

    Mazon Matanzo, M.P.; Fernandez Gonzalez, J.

    1976-01-01

    The variations in the respiratory activity of irradiated and IPC treated potato tubers during a storage period of five months have been studied. By immediate effect of gamma radiation, an increase in the oxigen consumption of the parenchyma in relation with the control tubers has been observed. Such increase persits even four months after gamma radiation. The respiratory activity is reduced in the IPC treated tubers. In the tissues cultivated ''in vitro'' the respiratory activity increases at the end of the cultivation period, not only in the control tissues but also in the irradiated ones, though this increase is greater in the control tissues.(author) [es

  12. Preliminary investigation into the use of Pleurotus tuber-regium ...

    African Journals Online (AJOL)

    The swelling capacity was three times that of maize starch BP Tablets prepared with P. tuber-regium powder disintegrated faster than those prepared with maize starch BP at concentrations below 10% w/w. At the disintegrant concentration of 10% w/w paracetamol tablets made from both Pleurotus powder and maize starch ...

  13. Systemic sclerosis: a world wide global analysis.

    Science.gov (United States)

    Coral-Alvarado, Paola; Pardo, Aryce L; Castaño-Rodriguez, Natalia; Rojas-Villarraga, Adriana; Anaya, Juan-Manuel

    2009-07-01

    The objective of this study was to analyze epidemiological tendencies of systemic sclerosis (SSc) around the world in order to identify possible local variations in the presentation and occurrence of the disease. A systematic review of the literature was performed through electronic databases using the keywords "Systemic Sclerosis" and "Clinical Characteristics." Out of a total of 167 articles, 41 were included in the analysis. Significant differences in the mean age at the time of diagnosis, subsets of SSc, clinical characteristics, and presence of antibodies were found between different regions of the word. Because variations in both additive and nonadditive genetic factors and the environmental variance are specific to the investigated population, ethnicity and geography are important characteristics to be considered in the study of SSc and other autoimmune diseases.

  14. Antimicrobial Activity and Chromatographic Analysis of Extracts from Tropaeolum pentaphyllum Lam. Tubers

    Directory of Open Access Journals (Sweden)

    Ritiel Corrêa da Cruz

    2016-04-01

    Full Text Available Background: Tropaeolum pentaphyllum Lam. tubers (Tropaeolaceae are known and used as a condiment and for the treatment of skin infections in Southern Brazil. However, its activity and composition has not yet been investigated. Thus, different extracts and the essential oil from the tubers were tested against a range of microorganisms. The most active extracts were submitted to chromatographic analysis. Methods: Hydroalcoholic extract (70%, fractions of it, and the essential oil from the tubers were tested against several bacteria, yeasts and molds, furnishing the corresponding inhibitory, bactericidal and fungicidal minimal concentration values. The most active extracts were submitted to GC-MS investigation. Results: The strongest effects against different strains of microorganisms, such as Gram-positive and negative bacteria, Candida spp. and dermatophytes were observed for the essential oil and the chloroform fraction, with minimal inhibitory concentrations (MICs well below 200 µg/mL. GC-MS analysis revealed that the major essential oil constituent is benzyl isothiocyanate (BITC, while the chloroform fraction is constituted of BITC, amides, sulfur, fatty acids and its esters, all compounds that may be related to the demonstrated activity. Conclusions: Overall, the results support the popular use of the plant for the treatment of skin infections, and revealed the main active compounds.

  15. MtDNA T4216C variation in multiple sclerosis

    DEFF Research Database (Denmark)

    Andalib, Sasan; Emamhadi, Mohammadreza; Yousefzadeh-Chabok, Shahrokh

    2016-01-01

    MtDNA T4216C variation has frequently been investigated in Multiple Sclerosis (MS) patients; nonetheless, controversy has existed about the evidence of association of this variation with susceptibility to MS. The present systematic review and meta-analysis converge the results of the preceding pu...

  16. Lung volume recruitment in multiple sclerosis.

    Directory of Open Access Journals (Sweden)

    Nadim Srour

    Full Text Available INTRODUCTION: Pulmonary function abnormalities have been described in multiple sclerosis including reductions in forced vital capacity (FVC and cough but the time course of this impairment is unknown. Peak cough flow (PCF is an important parameter for patients with respiratory muscle weakness and a reduced PCF has a direct impact on airway clearance and may therefore increase the risk of respiratory tract infections. Lung volume recruitment is a technique that improves PCF by inflating the lungs to their maximal insufflation capacity. OBJECTIVES: Our goals were to describe the rate of decline of pulmonary function and PCF in patients with multiple sclerosis and describe the use of lung volume recruitment in this population. METHODS: We reviewed all patients with multiple sclerosis referred to a respiratory neuromuscular rehabilitation clinic from February 1999 until December 2010. Lung volume recruitment was attempted in patients with FVC <80% predicted. Regular twice daily lung volume recruitment was prescribed if it resulted in a significant improvement in the laboratory. RESULTS: There were 79 patients included, 35 of whom were seen more than once. A baseline FVC <80% predicted was present in 82% of patients and 80% of patients had a PCF insufficient for airway clearance. There was a significant decline in FVC (122.6 mL/y, 95% CI 54.9-190.3 and PCF (192 mL/s/y, 95% 72-311 over a median follow-up time of 13.4 months. Lung volume recruitment was associated with a slower decline in FVC (p<0.0001 and PCF (p = 0.042. CONCLUSION: Pulmonary function and cough decline significantly over time in selected patients with multiple sclerosis and lung volume recruitment is associated with a slower rate of decline in lung function and peak cough flow. Given design limitations, additional studies are needed to assess the role of lung volume recruitment in patients with multiple sclerosis.

  17. Clinical and CT patterns in phakomatosis after Bourneville-Pringle

    International Nuclear Information System (INIS)

    Grobovschek, M.; Bone, G.; Landesnervenklinik, Salzburg

    1987-01-01

    The various clinical patterns of Bourneville's disease and/or Pringle's disease (pharkomatosis, or tuberous sclerosis combined with adenoma sebaceum) are described compared with CT morphology of the neurocranium. (orig.) [de

  18. Analysis of integrated multiple 'omics' datasets reveals the mechanisms of initiation and determination in the formation of tuberous roots in Rehmannia glutinosa.

    Science.gov (United States)

    Li, Mingjie; Yang, Yanhui; Li, Xinyu; Gu, Li; Wang, Fengji; Feng, Fajie; Tian, Yunhe; Wang, Fengqing; Wang, Xiaoran; Lin, Wenxiong; Chen, Xinjian; Zhang, Zhongyi

    2015-09-01

    All tuberous roots in Rehmannia glutinosa originate from the expansion of fibrous roots (FRs), but not all FRs can successfully transform into tuberous roots. This study identified differentially expressed genes and proteins associated with the expansion of FRs, by comparing the tuberous root at expansion stages (initiated tuberous root, ITRs) and FRs at the seedling stage (initiated FRs, IFRs). The role of miRNAs in the expansion of FRs was also explored using the sRNA transcriptome and degradome to identify miRNAs and their target genes that were differentially expressed between ITRs and FRs at the mature stage (unexpanded FRs, UFRs, which are unable to expand into ITRs). A total of 6032 genes and 450 proteins were differentially expressed between ITRs and IFRs. Integrated analyses of these data revealed several genes and proteins involved in light signalling, hormone response, and signal transduction that might participate in the induction of tuberous root formation. Several genes related to cell division and cell wall metabolism were involved in initiating the expansion of IFRs. Of 135 miRNAs differentially expressed between ITRs and UFRs, there were 27 miRNAs whose targets were specifically identified in the degradome. Analysis of target genes showed that several miRNAs specifically expressed in UFRs were involved in the degradation of key genes required for the formation of tuberous roots. As far as could be ascertained, this is the first time that the miRNAs that control the transition of FRs to tuberous roots in R. glutinosa have been identified. This comprehensive analysis of 'omics' data sheds new light on the mechanisms involved in the regulation of tuberous roots formation. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  19. Evidenced-based cognitive rehabilitation for persons with multiple sclerosis: a review of the literature.

    Science.gov (United States)

    O'Brien, Amanda R; Chiaravalloti, Nancy; Goverover, Yael; Deluca, John

    2008-04-01

    To conduct evidence-based review of cognitive rehabilitation intervention research conducted in persons with multiple sclerosis (MS), to classify level of evidence, and to generate recommendations for interventions in this area. An open (no year limits set) search of Medline, PsychInfo, and CINAHL (eliminating repetitions) using combinations of the following terms: attention, awareness, cognition, cognitive, communication, executive, executive function, language, learning, memory, perception, problem solving, reasoning, rehabilitation, remediation, training, and working memory. Reference sections of articles found through the sites were also searched. Studies were chosen based on criteria from previous evidence-based reviews such that articles are excluded from the review if (1) the study was not an intervention, (2) it was a theoretic article, (3) it was a review article, (4) detail was lacking to fully evaluate the intervention, (5) it was not MS-specific, (6) it included a pediatric sample, (7) it was a case report without empirical data to evaluate outcomes, (8) it was not peer-reviewed (also excludes book chapters), (9) it was a pharmacologic intervention, or (10) it was not available for review in English. Articles were categorized into interventions for attention, learning and memory, executive functioning, or nonspecified/combined cognitive domains. There were 4 reviewers in the current study. All articles were reviewed independently by at least 2 persons and abstracted according to predetermined criteria. There was a final total of 16 articles, which underwent a full review and classification of a level of evidence based on previously published peer-reviewed methodology used for evidence-based reviews. The current review yielded 16 studies of cognitive rehabilitation for persons with MS, including 4 class I studies, 5 class II studies, 2 class III studies, and 5 class IV studies. Two intervention methodologies in the area of verbal learning and memory

  20. ESCLEROSIS TUBEROSA Y AFECCIÓN RENAL: REPORTE DE UN CASO CLÍNICO

    Directory of Open Access Journals (Sweden)

    Ciocchini M

    2016-05-01

    Full Text Available A 27 year-old woman was initially referred to the division of nephrology because of polyuria and the finding of renal cysts. She did not have nervous system manifestations. According to the "2012 International Tuberous Sclerosis Complex Consensus Conference" the diagnosis of Tuberous Sclerosis Complex (TSC was completed. TSC is an autosomal dominant inherited multisystem disease with nearly complete penetrance. Clinical manifestations can vary widely even in patients belonging to a same linage. The morbidity and mortality depends on renal or respiratory complications on adulthood. This report highlight the need of a high level of suspicions in patients with manifestations compatible with this disease and shows the importance of a multidisciplinary team working together to arrive to the appropriate diagnosis.