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Sample records for tuberous sclerosis case

  1. A subtle case of tuberous sclerosis complex

    OpenAIRE

    Nakano, Hitoshi; Otsuka, Atsushi; Kinoshita, Masako

    2015-01-01

    Tuberous sclerosis complex (TSC) is known to cause severe intractable epilepsy and mental retardation; however, diagnosis can be delayed in milder cases. We report a 26-year-old right-handed female patient who started having convulsions at age 7. days. She had several focal seizures per year that were intractable to treatment with carbamazepine or phenytoin. Her two sisters had several episodes of suspected epileptic seizures but had no symptoms related to TSC. Seizure semiology of the patien...

  2. Tuberous Sclerosis

    Science.gov (United States)

    Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. ... Kidney problems Some people have signs of tuberous sclerosis at birth. In others it can take time ...

  3. Blindness in tuberous sclerosis: A case report

    African Journals Online (AJOL)

    2015-06-24

    Jun 24, 2015 ... Tuberous sclerosis complex (TSC) is an inherited neuro- ... No personality change or excessive weight changes was noticed. She had an episode of generalized tonic convulsion that lasted about 20 minutes with no loss of sphincter control .... taneous disorder that is associated with tumours in vari-.

  4. A subtle case of tuberous sclerosis complex.

    Science.gov (United States)

    Nakano, Hitoshi; Otsuka, Atsushi; Kinoshita, Masako

    2015-01-01

    Tuberous sclerosis complex (TSC) is known to cause severe intractable epilepsy and mental retardation; however, diagnosis can be delayed in milder cases. We report a 26-year-old right-handed female patient who started having convulsions at age 7 days. She had several focal seizures per year that were intractable to treatment with carbamazepine or phenytoin. Her two sisters had several episodes of suspected epileptic seizures but had no symptoms related to TSC. Seizure semiology of the patient comprised of visual hallucination, loss of consciousness, and convulsive movements predominantly on the right. Physical examination revealed several small scattered angiofibromas over the nose that were histologically determined by skin biopsy. Hypomelanotic macules, shagreen patches, or periungual fibromas were not seen. Neurological examination showed mental retardation (MMSE: 23/30, WAIS-III: VIQ63, PIQ59, FIQ58) and decreased vibration sensation in both legs. Interictal EEG showed slow waves and epileptiform discharges broadly over the anterior quadrants bilaterally. Brain imaging showed multiple cortical tubers and malformation of cortical development but no subependymal nodules. Interictal IMP-SPECT showed hypoperfusion in the left frontal lobe. Cardiac rhabdomyoma was not noticed by cardiac echography. Truncal CT showed sclerosis of the bilateral lumbosacral joints. There was no abnormality in the lung, major arteries, liver, or kidneys. No hamartomas or retinal achromic patches were noticed by ophthalmologic evaluation. Administration of lamotrigine was effective for her seizures. This patient fulfilled two major features of diagnostic criteria for TSC and was diagnosed as definite TSC. Patients with mental retardation and epilepsy should be carefully evaluated for the possible diagnosis of TSC.

  5. A subtle case of tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    Hitoshi Nakano

    2015-01-01

    Full Text Available Tuberous sclerosis complex (TSC is known to cause severe intractable epilepsy and mental retardation; however, diagnosis can be delayed in milder cases. We report a 26-year-old right-handed female patient who started having convulsions at age 7 days. She had several focal seizures per year that were intractable to treatment with carbamazepine or phenytoin. Her two sisters had several episodes of suspected epileptic seizures but had no symptoms related to TSC. Seizure semiology of the patient comprised of visual hallucination, loss of consciousness, and convulsive movements predominantly on the right. Physical examination revealed several small scattered angiofibromas over the nose that were histologically determined by skin biopsy. Hypomelanotic macules, shagreen patches, or periungual fibromas were not seen. Neurological examination showed mental retardation (MMSE: 23/30, WAIS-III: VIQ63, PIQ59, FIQ58 and decreased vibration sensation in both legs. Interictal EEG showed slow waves and epileptiform discharges broadly over the anterior quadrants bilaterally. Brain imaging showed multiple cortical tubers and malformation of cortical development but no subependymal nodules. Interictal IMP-SPECT showed hypoperfusion in the left frontal lobe. Cardiac rhabdomyoma was not noticed by cardiac echography. Truncal CT showed sclerosis of the bilateral lumbosacral joints. There was no abnormality in the lung, major arteries, liver, or kidneys. No hamartomas or retinal achromic patches were noticed by ophthalmologic evaluation. Administration of lamotrigine was effective for her seizures. This patient fulfilled two major features of diagnostic criteria for TSC and was diagnosed as definite TSC. Patients with mental retardation and epilepsy should be carefully evaluated for the possible diagnosis of TSC.

  6. [Oral manifestations in tuberous sclerosis. Report of 3 cases].

    Science.gov (United States)

    Seoane Lestón, J M; Sanz Asenjo, A; Romero Méndez, A; Esparza Gómez, G C; Martín de Miguel, M J; García-Alejo Hernández, R

    1989-06-01

    We present three cases of Tuberous Sclerosis, studying its oral manifestations and suggesting that dental pits are clinical markers of diagnostic interest in the paucisymptomatic forms of the syndrome.

  7. Tuberous sclerosis

    Science.gov (United States)

    ... symptoms. Depending on the severity of the mental disability, the child may need special education. Some seizures are controlled ... often do well. However, children with severe mental disability or ... when a child is born with severe tuberous sclerosis, one of ...

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

    Directory of Open Access Journals (Sweden)

    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

  9. Tuberous sclerosis Anaesthetic considerations

    African Journals Online (AJOL)

    QuickSilver

    SYNDROMIC VIGNETTES IN ANAESTHESIA. Southern African Journal of Anaesthesia & Analgesia - May 2003. 4. Tuberous sclerosis. Anaesthetic considerations. Tuberous sclerosis. Tuberous sclerosis(TS) was first described by Bourneville in. 1880.1 TS is said to be one of the commonest autosomal domi- nant diseases.

  10. 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

  11. 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)

  12. [Total A-V block due to tuberous sclerosis. A case report].

    Science.gov (United States)

    Valente, N; Guidugli Neto, J; De Paola, A A; Pimenta, J

    1989-10-01

    Tuberous sclerosis is a neurologic disease affecting various organs with a triade: sebaceum adenoma, mental retardation and seizures. This report presents a case of a patient with tuberous sclerosis and third degree A-V block with complete invasive and non-invasive evaluation. The patient had sincope and complete A-V block with QRS complexes showing right bundle branch block morphology. The echocardiogram showed dilated cardiomyopathy with diffuse left ventricular dysfunction and had normal coronary arteriography. The eletrophysiologic evaluation showed complete infra-hisian A-V block and QRS with left bundle branch block pattern with normal sinus nodal and A-V nodal function. It was not possible to induce ventricular tachtyarrhythmias up to two extrastimuli. Histologic study showed normal myocardium under light and electronic microscopy. After permanent VVI pacemaker implant, the patient in follow-up for 16 years. This case seems to be the first in the international medical literature of tuberous sclerosis with complete heart block.

  13. Gingival enlargement as a manifestation of tuberous sclerosis: case report and periodontal management.

    Science.gov (United States)

    Korol, Urszula B; Schoor, Robert; Nanda, Veena; Almas, Khalid; Phelan, Joan A

    2008-04-01

    Tuberous sclerosis is an autosomal-dominant inherited disease involving many organs of the body. Oral manifestations include gingival enlargement, fibromas, and dental enamel pitting. The report presents a case of tuberous sclerosis with gingival enlargement histologically consistent with angiofibroma, describes its successful periodontal management, and reviews the literature associated with oral manifestations of tuberous sclerosis. A 26-year-old white male presented to the Department of Periodontics and Implant Dentistry, New York University College of Dentistry, with a diagnosis of tuberous sclerosis and a chief complaint of gingival enlargement affecting mastication and esthetics. Following a complete medical history review, consultation with the patient's medical team at New York University Medical Center, and a thorough oral and periodontal examination, a treatment plan was developed that included oral hygiene instructions, mechanical debridement, and periodontal reevaluation. This was followed by gingivectomy, which provided improved function and esthetics. Excised tissue was submitted for histologic examination. The patient was followed every 2 months for assessment of the outcome of the surgical treatment. An extensive search of the dental and dermatologic literature was performed on MEDLINE. Histologic examination of the gingival tissue revealed features consistent with angiofibroma. Fifteen months following gingivectomy, the contours and gingival surface appearance remained normal. The gingival enlargement was histologically consistent with the characteristic angiofibromas of tuberous sclerosis. The gingival enlargement responded very well to gingivectomy and periodontal maintenance.

  14. Tuberous sclerosis complex coexistent with hippocampal sclerosis.

    Science.gov (United States)

    Lang, Min; Prayson, Richard A

    2016-02-01

    Tuberous sclerosis and hippocampal sclerosis are both well-defined entities associated with medically intractable epilepsy. To our knowledge, there has been only one prior case of these two pathologies being co-existent. We report a 7-month-old boy who presented with intractable seizures at 2 months of age. MRI studies showed diffuse volume loss in the brain with bilateral, multiple cortical tubers and subcortical migration abnormalities. Subependymal nodules were noted without subependymal giant cell astrocytoma. Genetic testing revealed TSC2 and PRD gene deletions. Histopathology of the hippocampus showed CA1 sclerosis marked by loss of neurons in the CA1 region. Sections from the temporal, parietal and occipital lobes showed multiple cortical tubers characterized by cortical architectural disorganization, gliosis, calcifications and increased number of large balloon cells. Focal white matter balloon cells and spongiform changes were also present. The patient underwent resection of the right fronto-parietal lobe and a subsequent resection of the right temporal, parietal and occipital lobes. The patient is free of seizures on anti-epileptic medication 69 months after surgery. Although hippocampal sclerosis is well documented to be associated with coexistent focal cortical dysplasia, the specific co-existence of cortical tubers and hippocampal sclerosis appears to be rare. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. Nonfunctional Islet Cell Tumor of the Pancreas in a Patient with Tuberous Sclerosis: A Case Report with Literature Review

    Directory of Open Access Journals (Sweden)

    Aysegul Cansu

    2014-01-01

    Full Text Available Islet cell tumors (ICTs are rare tumors of the pancreas. Association of this type of tumor with tuberous sclerosis is extremely rare. Only 13 cases of pancreatic ICT with tuberous sclerosis have so far been documented in the literature. However, awareness of the association of tuberous sclerosis and ICT is important for early diagnosis and appropriate treatment of this condition. This article presents the case of a 63-year-old female with angiomyolipoma (AML of the kidney and liver, calcified subependymal nodules and a large mass in the pancreas, which was proven to be an ICT on histopathological examination.

  16. Localization of the epileptogenic foci in tuberous sclerosis complex: a pediatric case report

    Directory of Open Access Journals (Sweden)

    Alexander eHunold

    2014-03-01

    Full Text Available Tuberous sclerosis complex (TSC is a rare disorder of tissue growth and differentiation, characterized by benign hamartomas in the brain and other organs. Up to 90% of TSC patients develop epilepsy and 50% become medically intractable requiring resective surgery. The surgical outcome of TSC patients depends on the accurate identification of the epileptogenic zone consisting of tubers and the surrounding epileptogenic tissue. There is conflicting evidence whether the epileptogenic zone is in the tuber itself or in abnormally developed surrounding cortex. Here, we report the localization of the epileptiform activity among the many cortical tubers in a four-year old patient with TSC-related refractory epilepsy undergoing magnetoencephalography (MEG, electroencephalography (EEG, and diffusion tensor imaging (DTI. For MEG, we used a prototype system that offers higher spatial resolution and sensitivity compared to the conventional adult systems. The generators of interictal activity were localized using both EEG and MEG with equivalent current dipole (ECD and minimum norm estimation (MNE methods according to the current clinical standards. For DTI, we calculated four diffusion scalar parameters for the fibers passing through four ROIs defined: (i at a large cortical tuber identified at the right quadrant, (ii at the normal appearing tissue contralateral to the tuber, (iii at the cluster formed by ECDs fitted at the peak of interictal spikes, and (iv at the normal appearing tissue contralateral to the cluster. ECDs were consistently clustered at the vicinity of the large calcified cortical tuber. MNE and ECDs indicated epileptiform activity in the same areas. DTI analysis showed differences between the scalar values of the tracks passing through the tuber and the ECD cluster. In this illustrative case, we provide evidence supporting the view that epileptiform activity may derive from abnormally developed tissue surrounding the tuber rather than the

  17. 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

  18. Identification of epileptogenic tubers in patients with tuberous sclerosis complex

    NARCIS (Netherlands)

    Jansen, F.E.

    2007-01-01

    Identification of epileptogenic tubers in patients with tuberous sclerosis complex Tuberous sclerosis complex (TSC) is associated with epilepsy and mental retardation. The principal aim of this thesis was to identify epileptogenic tuber(s) enabling the selection of patients for epilepsy surgery. In

  19. Computed tomographic finding of tuberous sclerosis

    International Nuclear Information System (INIS)

    Chung, Eun Chul; Lee, Seung Ro; Lee, Yul

    1988-01-01

    Computed tomography has been established as a useful imaging method in the diagnosis of tuberous sclerosis. By demonstrating the characteristic intracranial lesion, it allows confirmation of the diagnosis and provides a noninvasive means of evaluating the patient with seizure and mental retardation. Authors analysed CT findings in 20 cases of tuberous sclerosis since March 1985 through August 1988. The results were as follows: 1) There are 14 men and 6 women with the age raging from 6 months to 45 years. 2) Ventricular calcified tubers are noted at the frontal horn (16/20, 80%), body (13/20, 65%), atrium (9/20 45%) of the lateral ventricles. 1 case shows the haematuria near the foramen of Monro. 3) In the cortical region, 1 case of high density tuber and 2 cases of focal atrophy are noted. 4) In the white mater, 3 cases of amorphous calcifications and 1 case of demyelinating hypodensity are seen.

  20. Computed tomographic finding of tuberous sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Eun Chul; Lee, Seung Ro; Lee, Yul [Ewha University College of Medicine, Seoul (Korea, Republic of)

    1988-12-15

    Computed tomography has been established as a useful imaging method in the diagnosis of tuberous sclerosis. By demonstrating the characteristic intracranial lesion, it allows confirmation of the diagnosis and provides a noninvasive means of evaluating the patient with seizure and mental retardation. Authors analysed CT findings in 20 cases of tuberous sclerosis since March 1985 through August 1988. The results were as follows: 1) There are 14 men and 6 women with the age raging from 6 months to 45 years. 2) Ventricular calcified tubers are noted at the frontal horn (16/20, 80%), body (13/20, 65%), atrium (9/20 45%) of the lateral ventricles. 1 case shows the haematuria near the foramen of Monro. 3) In the cortical region, 1 case of high density tuber and 2 cases of focal atrophy are noted. 4) In the white mater, 3 cases of amorphous calcifications and 1 case of demyelinating hypodensity are seen.

  1. 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.

  2. Blindness in Tuberous Sclerosis: A Case Report | Olaosebikan ...

    African Journals Online (AJOL)

    When visual loss occurs it may be associated with hamartomas from retinal or optic nerve involvement or from intracranial (brain) tumours that affect either the part of the brain that processes visual information or from optic nerve damage following raised intracranial pressure. Very few cases of TS with blindness have been ...

  3. Vascular involvement in tuberous sclerosis.

    Science.gov (United States)

    Salerno, Ann E; Marsenic, Olivera; Meyers, Kevin E C; Kaplan, Bernard S; Hellinger, Jeffrey C

    2010-08-01

    Vascular involvement in tuberous sclerosis (TS) is rare. Central and peripheral aneurysms and large and medium size arterial stenotic-occlusive disease have been reported in patients with TS. We present here three pediatric patients with TS and severe vascular abnormalities, followed by a review of the literature. The three cases include a 14-month-old girl with polycystic kidneys and cerebral tubers who had a large asymptomatic abdominal aortic aneurysm, a 2-year-old boy with multiple features of TS who had hypertension and was found to have mid-aortic syndrome with bilateral renal artery stenosis, and an 18-year-old girl with abdominal pain and TS features who had greater than 70% celiac artery stenosis. In all cases, noninvasive vascular imaging modalities were utilized for either initial diagnosis, surveillance, or both. These cases highlight the collaborative roles of the pediatric nephrologist and cardiovascular imager in the diagnosis and management of the vascular complications in TS patients. Appropriate care can only be made through a high index of suspicion.

  4. 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.

  5. Imaging in tuberous sclerosis complex

    NARCIS (Netherlands)

    Adriaensen, M.E.A.P.M.

    2011-01-01

    Since 1995, the University Medical Center Utrecht is a nationwide referral center for patients with tuberous sclerosis complex (TSC). Aim of this thesis was to make a start with the systematic evaluation of imaging in patients with TSC followed at our institution focusing on the heart, the lungs and

  6. Tuberous Sclerosis in Identical Twins

    Directory of Open Access Journals (Sweden)

    Dinesh C Govil

    1987-01-01

    Full Text Available Tuberous sclerosis was, observed in six year old identical twin brothers born with single placenta and a single amnion. Both had adenoma sebaceum shagreen patches, ash leaf spots and progressive mental deterioration. One of them had a verrucous pigmented nevus on the, left temple and recurrent localized motor seizures.

  7. Tuberous sclerosis Anaesthetic considerations | Bosenberg ...

    African Journals Online (AJOL)

    Southern African Journal of Anaesthesia and Analgesia. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 9, No 2 (2003) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Tuberous sclerosis Anaesthetic ...

  8. Understanding the Etiology of Tuberous Sclerosis Complex

    Science.gov (United States)

    2012-07-01

    of life as infantile spasms that are unresponsive to conventional anti-epileptic drug therapies (Curatolo et al., 2001; Holmes and Stafstrom, 2007... Infantile spasms in tuberous sclerosis complex. Brain Dev 23:502-507. DiMario FJ, Jr. (2004) Brain abnormalities in tuberous sclerosis complex. J...on chromosome 16. Cell, 75, 1305–1315. 3. Curatolo, P., Seri, S., Verdecchia, M. and Bombardieri, R. (2001) Infantile spasms in tuberous sclerosis

  9. MR imaging of intracranial tuberous sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Ikeda, Koshi; Katoh, Tsutomu; Yamanouchi, Yasuo; Ha-Kawa, Sang-Kil; Kurokawa, Hiromasa; Sougawa, Mitsuharu; Nakano, Yoshihisa; Tanaka, Yoshimasa [Kansai Medical Univ., Moriguchi, Osaka (Japan)

    1995-08-01

    Cranial MRI and CT studies in 13 patients with a clinical diagnosis of tuberous sclerosis were reviewed. Subependymal nodules, cortical tubers and white matter lesions were better demonstrated by MRI than CT. CT was superior to MR in the demonstration of calcified nodules. With MRI, sulcal islands, gyral cores and linear white matter lesions extending from the ventricular surface to the cerebral surface were demonstrated. MRI showed the development of subependymal giant cell tumors in two cases. In patients operated on for subependymal giant cell, MRI enhanced with Gd-DTPA demonstrated inactive subependymal nodules. (author).

  10. Cortical tubers, cognition, and epilepsy in tuberous sclerosis.

    Science.gov (United States)

    Kassiri, Janani; Snyder, Thomas J; Bhargava, Ravi; Wheatley, B Matt; Sinclair, D Barry

    2011-05-01

    Tuberous sclerosis complex is an autosomal-dominant genetic disorder characterized by hamartomatous growth in various organs. Patients who have this disorder exhibit a high rate of epilepsy and cognitive problems. We investigated number of tubers, location, seizure types, and cognitive outcome, and we analyzed the relationships among them in our tuberous sclerosis patients in the Comprehensive Epilepsy Program at the University of Alberta. We also examined the seizure outcome after tuber resection. Our study cohort included 24 patients with tuberous sclerosis complex. We obtained seizure history, electroencephalogram, and neuropsychologic parameters. Magnetic resonance imaging was used to examine tuber numbers and locations. Ten patients underwent surgical removal of tubers responsible for intractable epilepsy. A negative correlation was found between the number of tubers and intelligent quotient score. Epilepsy surgery led to freedom from seizures in this patient group. We demonstrated that the total number and location of cortical tubers play a significant role in the extent of mental retardation in patients with tuberous sclerosis complex. In addition, patients with intractable seizures and well-defined epileptic focus had excellent surgical outcome. Copyright © 2011 Elsevier Inc. All rights reserved.

  11. Tuberous sclerosis complex presenting as pulmonary ...

    African Journals Online (AJOL)

    Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC. Imaging evaluation plays an important role in the assessment of patients with tuberous sclerosis complex. In newly diagnosed patients, it helps not only to ...

  12. A large infiltrating fibrous hamartoma of infancy in the abdominal wall with rare associated tuberous sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Han, Hye-Jeong; Lim, Gye-Yeon [The Catholic University of Korea, Department of Radiology, St. Mary' s Hospital, Seoul (Korea); You, Chang-Young [The Catholic University of Korea, Department of Pathology, St. Mary' s Hospital, Seoul (Korea)

    2009-07-15

    Tuberous sclerosis is a complex autosomal-dominant neurocutaneous syndrome characterized by hamartomatous malformations of fibrous and connective tissues in various organs. Although various histologic types of soft-tissue masses can occur with tuberous sclerosis, we present a unique case of fibrous hamartoma of infancy presenting as large infiltrating cutaneous and subcutaneous masses in the abdominal wall in a 4-year-old boy with tuberous sclerosis. Although the co-occurrence of tuberous sclerosis and fibrous hamartoma of infancy is very rare, it should be considered in the differential diagnosis of subcutaneous soft-tissue masses found in children with tuberous sclerosis. (orig.)

  13. Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.

    Science.gov (United States)

    Dow, Eryn; Winship, Ingrid

    2016-12-01

    Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disease characterised by benign cutaneous lesions, pulmonary cysts, and an increased risk of renal tumors. This rare condition is due to a mutation in the folliculin (FLCN) gene on chromosome 17q11.2, which has a role in the mechanistic/mammalian target of rapamycin (mTOR) signaling pathway of tumorigenesis. This case illustrates a patient with BHD and a renal angiomyolipoma, a neoplastic lesion not usually associated with BHD but common in Tuberous Sclerosis Complex (TSC). There is both clinical and molecular overlap between BHD and TSC, which may arise from similarities in function of the TSC and FLCN proteins in the mTOR pathway; this case further demonstrates this potential correlation. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  14. 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.

  15. Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature.

    NARCIS (Netherlands)

    Wortmann, S.B.; Reimer, A.G.; Creemers, J.W.T.; Mullaart, R.A.

    2008-01-01

    Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder with multi-organ involvement. The diagnosis is suspected at fetal ultrasound on the discovery of multiple cardiac rhabdomyomas (CRs). They typically develop in utero and undergo spontaneous regression during the first

  16. Shaving and dermabrasion of the facial lesions in tuberous sclerosis ...

    African Journals Online (AJOL)

    Tuberous sclerosis is a disease characterised by convulsive seizures, mental deficiency and angiofibromas. These angiofibromas are hamartomas consisting of hyperplastic connective and vascular tissue. A case is reported where multiple angiofibromas of the face resulted in significant disfigurement. The lesions were ...

  17. Tuberous Sclerosis Complex: mutations, functions and phenotypes

    NARCIS (Netherlands)

    O. Sancak (Ozgur)

    2005-01-01

    textabstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490 patients diagnosed

  18. Tuberous sclerosis complex Esclerose tuberosa

    Directory of Open Access Journals (Sweden)

    Daniela Araujo Rodrigues

    2012-04-01

    Full Text Available Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality.A Esclerose Tuberosa, também conhecida como Epilóia ou Facomatose de Pringle-Bourneville, é uma síndrome neurocutânea de caráter autossômico dominante com expressões clínicas variadas. É uma doença multissistêmica que pode cursar com hamartomas em diversos órgãos, de forma imprevisível. O dermatologista tem papel essencial na história da doença, uma vez que as afecções cutâneas representam as mais prevalentes apresentações clínicas, possibilitando assim o diagnóstico precoce da síndrome e intervenção na sua evolução natural. O presente artigo tem o objetivo de atualizar a comunidade científica sobre avanços alcançados no estudo genético e biologia molecular. Recentes descobertas sobre o estímulo do crescimento tumoral vêm mudando a evolução desta patologia, possibilitando ensaios terapêuticos com drogas tópicas e sistêmicas. O conhecimento destes aspectos possibilita melhor condução dos pacientes acometidos, dado que a substituição tumoral dos diversos tecidos pode

  19. Kidney involvement in tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    Ebru Yılmaz

    2015-03-01

    Full Text Available Objective: Tuberous sclerosis complex (TSC is a multisystem autosomal dominant disease characterized by the development of benign neoplasia in skin, brain and kidneys. There are three particular renal disorders in TSC including renal cysts, renal angiomyolipoma and renal cell carcinoma. In the current study we aimed to investigate renal findings of TSC patients followed in our clinic. Methods: Patients’ family history, convulsion history, age, gender, physical examination findings, renal function tests, ultrasound and/or magnetic resonance imaging, results of computerized tomography, echocardiography and eye findings were found from hospital records and evaluated. Tuberous sclerosis diagnosis was made by clinical and imaging findings in 19 patients. Results: Nineteen cases were included in study. Eleven was males and the remaining 8 were females. The mean age was 75.5±65, 1 month (3 month- 18 year and follow up time was 14.6±7 month. Renal angiomyolipoma was the most commonly seen pathology alone (4 patients-21% and with renal cysts (5 patients-26.3%. Autosomal dominant polycystic kidney disease was with TSC in two patients. Four patients were presented with only simple renal cysts. Two patients had increased renal echogenicity and one patient had mild pelvicaliectasis. Ureteropelvic junction obstruction, urinary tract infection, nephrolithiasis and hemorrhages are commonly seen complications in TSC. Five patients had history of urinary tract infection. None of the patients had bleeding or rupture complication. Hypertension and end stage renal disease were not seen. Conclusion: The most commonly seen renal lesions in TSC are angiomyolipomas and kidney cysts. At the time of TSC diagnosis, all the children must be screened for renal involvement and we should remember renal findings can change with time and new findings can be added to old ones. Therefore nephrologist follow up has been done in all patients.

  20. Total corpus callosotomy for epileptic spasms after acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) in a case with tuberous sclerosis complex.

    Science.gov (United States)

    Okanishi, Tohru; Fujimoto, Ayataka; Motoi, Hirotaka; Kanai, Sotaro; Nishimura, Mitsuyo; Yamazoe, Tomohiro; Takagi, Atsushi; Yamamoto, Takamichi; Enoki, Hideo

    2017-05-01

    Corpus callosotomy is a palliative therapy for refractory epilepsy, including West syndrome, without a resectable epileptic focus. The surgical outcome of corpus callosotomy is relatively favorable in cryptogenic (non-lesional) West syndrome. Tuberous sclerosis complex (TSC) is a disorder that frequently leads to the development of refractory seizures by multiple cortical tubers. The multiple cortical tubers cause multiple or wide epileptic networks in these cases. Most of West syndrome cases in TSC with multiple tubers need additional resective surgery after corpus callosotomy. We describe a case of TSC in a boy aged 4years and 8months. He had multiple cortical tubers on his brain and developed epileptic spasms. The seizures were controlled with valproate. At the age of 1year and 4months, he presented with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), and had relapsed epileptic spasms one month after the onset of the encephalopathy. The seizures were refractory to multiple antiepileptic drugs. A total corpus callosotomy was performed at the age of 3years and 8months. The patient did not show any seizures after the surgery. During 12months of the follow-up, the patient was free from any seizures. Even in cases of symptomatic WS with multiple lesions, total corpus callosotomy may be a good strategy if the patients have secondary diffuse brain insults. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  1. 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.

  2. Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report ...

    African Journals Online (AJOL)

    signal intensity on the T2-weighted images. These most likely represent the cortical tubers, presumably the cause of the seizures or mental retardation, or both, and are the most sensitive finding on MRI, being present in all patients.[29]. CT is the modality of choice for evaluating renal lesions because of its ability to delineate ...

  3. Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report.

    Science.gov (United States)

    Nakata, Masatoshi; Kato, Takeo; Ide, Minako; Saito, Keiko; Yoshida, Takeshi; Awaya, Tomonari; Shibata, Minoru; Heike, Toshio

    2016-04-01

    In Japan, adrenocorticotropic hormone (ACTH) therapy has been the mainstay of treatment of West syndrome. Conventional ACTH therapy is administered short-term with efficacy, yet the relapse rate is high. Relapse after initial ACTH therapy is a poor prognostic factor for long-term seizure control and outcome of cognitive function. Here, we report successful long-term weekly ACTH therapy for relapsed WS in a tuberous sclerosis complex (TSC) child after conventional ACTH therapy. The patient had a series of epileptic spasms (ES) and hypsarrhythmia at age 3 months. She was diagnosed with WS associated with TSC, and was treated with conventional ACTH therapy at age 4 months, and a second course of ACTH therapy at age 8 months. Both courses of therapy were transiently effective. A third course of ACTH therapy was started at age 1 year and 2 months, and long-term weekly ACTH therapy was continued thereafter. During this therapy, both ES and hypsarrhythmia remained completely resolved. Therapy was continued, and dose reduction was started when the patient was 2 years and 10 months old. No serious adverse events had occurred during this therapy. This case demonstrated that long-term weekly ACTH may be safe and effective. Although at present, this therapy may only be considered for relapsed symptomatic WS patients, it may be a good alternative therapy when frequent relapses occur after favorable response to conventional ACTH therapy. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  4. 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.

  5. Clinically Relevant Imaging in Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    Rupa Radhakrishnan

    2011-01-01

    Full Text Available Tuberous sclerosis (TS, also known as Bourneville disease or Bourneville-Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.

  6. Critical Analysis Of Tuberous Sclerosis In A Family

    Directory of Open Access Journals (Sweden)

    Raghu Tanjore Y

    2000-01-01

    Full Text Available Tuberous sclerosis (TS is an autosomal neurocutaneous genodermatosis. Sporadic cases have been reported. We report three cases of TS in a family. A 30 year male labourer and his two off springs, 10 years male and 8 year female, born of no consanguineous marriage, presented with facial angiofibroma, ash leaf macule, shagreen patch, periungual fibroma, mental deficiency, delayed milestone and epilepsy. Plain and contrast computerized tomography revealed subependymal calcification on the body of both lateral ventricles in the female child.

  7. Rapamycin and rapalogs for tuberous sclerosis complex.

    Science.gov (United States)

    Sasongko, Teguh H; Ismail, Nur Farrah Dila; Zabidi-Hussin, Zamh

    2016-07-13

    Previous studies have shown potential benefits of rapamycin or rapalogs for treating people with tuberous sclerosis complex. Although everolimus (a rapalog) is currently approved by the FDA (U.S. Food and Drug Administration) and the EMA (European Medicines Agency) for tuberous sclerosis complex-associated renal angiomyolipoma and subependymal giant cell astrocytoma, applications for other manifestations of tuberous sclerosis complex have not yet been established. A systematic review is necessary to establish the clinical value of rapamycin or rapalogs for various manifestations in tuberous sclerosis complex. To determine the effectiveness of rapamycin or rapalogs in people with tuberous sclerosis complex for decreasing tumour size and other manifestations and to assess the safety of rapamycin or rapalogs in relation to their adverse effects. Relevant studies were identified by authors from the Cochrane Central Register of Controlled Trials (CENTRAL), Ovid MEDLINE, and clinicaltrials.gov. Relevant resources were also searched by the authors, such as conference proceedings and abstract books of conferences, from e.g. the Tuberous Sclerosis Complex International Research Conferences, other tuberous sclerosis complex-related conferences and the Human Genome Meeting. We did not restrict the searches by language as long as English translations were available for non-English reports.Date of the last searches: 14 March 2016. Randomized or quasi-randomized studies of rapamycin or rapalogs in people with tuberous sclerosis complex. Data were independently extracted by two authors using standard acquisition forms. The data collection was verified by one author. The risk of bias of each study was independently assessed by two authors and verified by one author. Three placebo-controlled studies with a total of 263 participants (age range 0.8 to 61 years old, 122 males and 141 females, with variable lengths of study duration) were included in the review. We found high

  8. Esclerose tuberosa: avaliação de miofibroblastos em angiofibromas cutâneos - relato de caso Tuberous sclerosis: evaluation of myofibroblasts in cutaneous angiofibromas - case report

    Directory of Open Access Journals (Sweden)

    Erick Gomes Perez

    2010-02-01

    Full Text Available Esclerose tuberosa é uma condição rara e autossômica dominante. Miofibroblastos são células que exibem fenótipo híbrido entre fibroblastos e células musculares lisas. O objetivo deste caso clínico é mostrar as características clínicas e histopatológicas da esclerose tuberosa e avaliar miofibroblastos nos angiofibromas cutâneos dessa condição. Lesões removidas foram coradas em HE e tricrômico de Masson. Para determinar a presença de miofibroblastos foi usada imunoistoquímica para α-SMA. Essa reação mostrou-se negativa para miofibroblastos. Como α-SMA é um marcador específico para essas células, esse resultado sugere que miofibroblastos não estejam envolvidos com os angiofibromas da esclerose tuberosa descrita.Tuberous sclerosis is a rare autosomal dominant disorder. Myofibroblasts are cells with a hybrid phenotype between fibroblasts and smooth muscle cells. The objective of this study is to describe clinical and histopathological characteristics of tuberous sclerosis and to conduct an immunohistochemical evaluation of myofibroblasts in cutaneous angiofibromas present in this condition. Lesion sections removed were stained with hematoxylin-eosin and Masson's trichrome. Immunohistochemistry against α-SMA was done to determine the presence of myofibroblasts, and the reaction was negative. Since α-SMA is a specific marker for myofibroblasts, this result suggests that myofibroblasts are not involved in cutaneous angiofibromas present in the tuberous sclerosis case reported.

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

    Science.gov (United States)

    2016-04-01

    as periventricular leukomalacia and cerebral palsy, and as well in demyelinating diseases such as multiple sclerosis . 6. PUBLICATIONS, ABSTRACTS...S.K. (2013). Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. Cerebral cortex 23, 1526-1532...AWARD NUMBER: W81XWH-13-1-0040 TITLE: Role of CTGF in White Matter Development in Tuberous Sclerosis PRINCIPAL INVESTIGATOR: Mustafa Sahin

  10. 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

  11. 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.

  12. Pediatric aspects of tuberous sclerosis complex

    Energy Technology Data Exchange (ETDEWEB)

    Maehara, Mitsuo [National Chubu Hospital, Ohbu, Aichi (Japan)

    1999-02-01

    Tuberous sclerosis complex (TSC) is a dominantly inherited genetic disease. The clinical expression of TSC is highly variable among patients. Mental retardation and epileptic seizures are common and are the most critical problems in pediatric patients with TSC. Cortical and subcortical lesions, and abnormal myelination of the white matter in 19 epileptic patients with TSC were investigated by magnetic resonance imaging (MRI) and positron emission tomography (PET) to assess the relation between the neuropsychologic development and the cerebral lesions. The number of cortical tubers did not correlate significantly with the severity of the clinical pictures, although the patients with a large number of cortical tubers and poor differentiation of the cortex and white matter tended to have the more severe mental disabilities. Sequential MRI studies revealed that some cortical lesions previously visible on MRI gradually disappeared, or decreased in size with age. PET could detect such latent cortical lesions on MRI as hypometabolic regions. In addition to the cerebral lesions defined by MRI, the existence of neuropathologic changes that this imaging could not show, such as cortical dysplasia, were thought to be responsible for the mental retardation and epilepsy in TSC. (author). 31 refs.

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

    Science.gov (United States)

    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.

  14. lessons from tuberous sclerosis complex

    African Journals Online (AJOL)

    example here is the relationship between trisomy 21 (Down syndrome) and high rates of Alzheimer's disease, which led to the discovery of the molecular basis of ... Treatment is often inadequate or wrong. For example, a recent case report[13] in the SAMJ was clearly a case of an adolescent with TSC, facial angiofibromas ...

  15. Modeling Phenotypes of Tuberous Sclerosis in the Mouse

    National Research Council Canada - National Science Library

    Shipley, James M

    2006-01-01

    The overall goal of this project is to generate a mouse model of the smooth muscle-related facets of tuberous sclerosis specifically in an attempt to model the lung phenotype seen in a subset of TS...

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

    Science.gov (United States)

    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.

  17. [Investigation on immunization program coverage rate and its safety in children with tuberous sclerosis].

    Science.gov (United States)

    Gao, Y; Zou, L P; Zhang, M N; Pang, L Y; Wang, Y Y; Ma, S F; Huang, L L

    2017-01-02

    Objective: To investigate the status of immunization of National Immunization Program (NIP) and its adverse reaction rate in children with tuberous sclerosis. Method: Questionnaire survey was adopted to identify the vaccination coverage and its adverse events; 72 cases of children with tuberous sclerosis and 78 normal controls (healthy children completing age-appropriate NIP) admitted to Chinese People's Liberation Army General Hospital from December 2014 to November 2015 were involved into this study. Result: The age-appropriate NIP coverage rate of tuberous sclerosis was 36%(26/72). The coverage rate of bacillus calmette-guerin (BCG), hepatitis B vaccine 1 st to 3 rd doses (HepB1-3), oral poliovaccine 1 st dose (OPV1), diphtheria, pertussis and tetanus 1 st dose (DPT1), DPT1-3, meningococcal polysaccharide vaccine group A (MPVA), measles amd rubella vaccine/measles vaccine 1 st dose (MRV/MCV1), and Japanese encephalitis vaccine 1 st dose (JEV1) were 100%(72 cases), 75%(51 cases), 97%(66 cases), 91%(62 cases), 82%(56 cases), 66%(45 cases), 69%(42 cases), and 61%(37 cases) respectively. The reasons why the children did not complete the vaccination plan were that parents were concerned about vaccination-induced seizures or seizures had not been controlled. Among 72 children with TSC, the rate of adverse events or suspected adverse events after vaccination was 17% (12 cases), which was higher than the normal control children (2 cases, 3%) (χ 2 =8.799, P children with tuberous sclerosis is low. The high incidence of adverse events may be associated with a fact that there are some nervous system abnormalities in cases with tuberous sclerosis. TSC children vaccination is relatively safe, with no serious adverse events.

  18. Esclerose tuberosa com envolvimento pulmonar Tuberous sclerosis with pulmonary involvment

    Directory of Open Access Journals (Sweden)

    Susana Ferreira

    2010-04-01

    Full Text Available A esclerose tuberosa (ET é uma doença rara, esporádica ou transmitida de forma autossómica dominante. Caracteriza-se pela tríade convulsões, atraso mental e angiofibromas faciais. O envolvimento pulmonar é raro e, quando ocorre, é mais frequente no sexo feminino. Os autores apresentam o caso de uma doente de 52 anos, não fumadora, com antecedentes conhecidos de epilepsia na infância e angiomiolipomas renais. Assintomática e sem alterações ao exame objectivo. Em tomografia do tórax realizada para avaliação da doença, foram detectadas formações microquísticas dispersas em ambos os campos pulmonares. Exame funcional respiratório normal. A ressonância magnética cerebral evidenciou tuberosidades corticais e nódulos subependimários calcificados. Concluiu-se pelo diagnóstico de ET (linfangioleiomiomatose, tuberosidades corticais, nódulos subependimários e angiomiolipomas renais. Os autores apresentam o caso pela raridade da doença e do envolvimento pulmonar, ainda que em fase assintomática.Tuberous sclerosis (TS is a rare, sporadic or autosomal dominant disease characterized by the triad of seizures, mental retardation and angiofibromas. Lungs are rarely involved in TS, and pulmonary involvement is almost always found in females. We report the case of a 52 year-old female, nonsmoker, with a history of seizures in childhood and renal angiomyolipomas. She presented no complaints and her physical exam was normal. Chest CT performed for the evaluation of the disease detected thin-walled pulmonary cysts in both lungs. Lung function tests were normal. Cortical tubers and calcified subependymal nodules were seen in cerebral magnetic resonance. Tuberous sclerosis was diagnosed (lymphangioleiomyomatosis, cortical tubers, calcified subependymal nodules and angiomyiolipomas. The authors present this case because of its rarity and the existence of pulmonary involvement, while still asymptomatic.

  19. Epileptic spasms in tuberous sclerosis complex.

    Science.gov (United States)

    Hsieh, David T; Jennesson, Melanie M; Thiele, Elizabeth A

    2013-09-01

    To characterize epileptic spasms (ES) occurring after the age of two years in patients with tuberous sclerosis complex (TSC), particularly treatment response to vigabatrin (VGB), which is extremely effective for infantile spasms (IS) in TSC. The authors retrospectively reviewed 19 patients with TSC and ES. Medical records were assessed for clinical and treatment data, neurocognitive, EEG, MRI data, and genetic analyses. Of 391 patients with TSC, 19 (4.8%) had ES. Of those with detailed clinical data, six had infantile spasms that persisted after 2 years old, six recurred after an initial remission of infantile spasms (range 2-24 years old), and four occurred de novo over the age of two (range 2-20 years old). All concurrently had other seizure types. One had hypsarrhythmia on EEG. All had brain MRI stigmata typical of TSC. Thirteen had a mutation in TSC2, and one in TSC1. Six patients became spasm-free with medication treatment, including four with VGB, one with VGB in combination with the low glycemic index dietary treatment, and one with felbamate. Five became spasm-free after epilepsy surgery. VGB was not effective for seven patients. The majority continued to have refractory epilepsy. ES are not uncommon in patients with TSC, especially those with TSC2 mutations. ES in TSC occur in the setting of other seizure types and refractory epilepsy. Hypsarrhythmia is rare. VGB can be effective, but the success of VGB for ES in TSC is not equivalent to that of IS in TSC. Copyright © 2013 Elsevier B.V. All rights reserved.

  20. Tuberous sclerosis complex with sub-ependymal giant cell astrocytomas

    Directory of Open Access Journals (Sweden)

    Shehla Iftikhar

    2017-12-01

    Full Text Available Tuberous sclerosis complex (TSC is a rare autosomal disorder that typically affects children. The manifestations of TSC include development of benign lesions in various organs, primarily in the brain, skin, kidneys, heart, and lungs. TSC management often involves multidisciplinary specialties. Herein, we present a case of a 5-year-old male patient who presented with a headache, vomiting and fever. Radiological assessment demonstrated a lobulated enhancing tumor in the right lateral ventricle near the foramen of Monro for which he underwent craniotomy (total tumor resection, which turned out to be subependymal giant cell astrocytomas upon histopathological examination. A follow-up MRI after 10 months showed cortical dysplasias, with tiny subependymal nodules. Dermatology examination revealed hypomelanotic macules, angiofibromas and shagreen patch. At his one-year follow-up, the patient exhibited normal mental and physical growth. Therefore, calling attention to TSC diagnosis and management depending upon the particular presentation may improve the quality of life of TSC patients.

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

    African Journals Online (AJOL)

    that manifests with benign non-invasive hamartomas in multiple organ systems and is associated ... Written consent was obtained from caregivers. Results. Over the 33-month ... Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the ...

  2. 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.

  3. 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 ...

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

    African Journals Online (AJOL)

    Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were ...

  5. Laparoscopic cryoablation of angiomyolipomas in adolescents and young adults: a report of 4 cases associated with tuberous sclerosis and 1 case of sporadic origin

    DEFF Research Database (Denmark)

    Trelborg, Karina; Nielsen, Tommy Kjærgaard; Østraat, Øyvind

    tuberous sclerosis (TS) and one had AML of sporadic origin, all five patients underwent laparoscopic cryoablation. Perioperative data was prospectively registered in a nation-wide laparoscopy database with follow-up data collected from the patients’ chart. Independent radiologists reassessed all imaging...... episode. From time of diagnosis until intervention the patients with TS were followed with renal imaging for a median time of 117 (1–140) months. After cryoablation AML-status was followed by CT and MRI for a median follow up time of 37 (6–59) months. On follow-up imaging, all lesions showed a reduction...... for this approach. Treatment with mTOR inhibitors is an alternative and promising non-invasive treatment for TS-patients with AMLs not requiring immediate surgery....

  6. 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.)

  7. A different approach for identifying hypomelanotic macules in tuberous sclerosis complex.

    Science.gov (United States)

    Gualandri, L; Boccardi, D; Menni, S

    2015-10-01

    Tuberous sclerosis complex is a neurocutaneous syndrome with an autosomal dominant pattern of inheritance and a high percentage of sporadic cases. One of the most interesting thing about tuberous sclerosis complex is the earliest skin manifestation represented by the hypomelanotic patches. These lesions may be difficult to diagnose. In our article we provide a different diagnostic tool in order to increase the likely of right identification of these lesions. We used a modified starch-iodine, applied on the hypomelanotic patches of the patient and on the normal skin. It allowed to show a decreased sweat production by eccrine glands in hypomelanotic macules in TSC. This test has not been standardized yet, but it is simple and inexpensive. Three patients of pediatric age and 1 adult patient affected by tuberous sclerosis complex were enrolled. The test put in evidence a decreased activity of the sweat glands. The hypomelanotic patches are very common in tuberous sclerosis complex, and sometimes are the only earliest sign with few elements of this syndrome. There are different diagnostic tools like skin biopsies, but they are invasive and not always easy to perform. The opportunity of a simple and unexpensive test for helping in the right diagnosis of this syndrome should be considered.

  8. Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms vs focal seizures

    Science.gov (United States)

    Yum, Mi-Sun; Lee, Eun Hye; Ko, Tae-Sung

    2013-01-01

    Tuberous sclerosis complex is a genetic disorder resulting in epilepsy and mental retardation. Vigabatrin has shown efficacy in the treatment of infantile spasms caused by tuberous sclerosis complex, but its effects on focal seizures caused by tuberous sclerosis complex have not been determined. We compared the efficacy of vigabatrin in patients with tuberous sclerosis complex-induced focal seizures and infantile spasms and assessed the mental outcomes in both groups. We retrospectively evaluated 31 children with tuberous sclerosis complex and epilepsy, who were treated with vigabatrin in single tertiary center in Seoul, Korea. Vigabatrin treatment resulted in spasms cessation in 16 of 18 (88.9%) patients with infantile spasms, whereas 6 of 13 (46.2%) patients with focal seizures became seizure-free. Initial response to vigabatrin had no effect on intellectual disability. Vigabatrin was highly effective in eliminating infantile spasms caused by tuberous sclerosis complex, but was less effective in patients with focal seizures. PMID:22752486

  9. Vigabatrin and mental retardation in tuberous sclerosis: infantile spasms versus focal seizures.

    Science.gov (United States)

    Yum, Mi-Sun; Lee, Eun Hye; Ko, Tae-Sung

    2013-03-01

    Tuberous sclerosis complex is a genetic disorder resulting in epilepsy and mental retardation. Vigabatrin has shown efficacy in the treatment of infantile spasms caused by tuberous sclerosis complex, but its effects on focal seizures caused by tuberous sclerosis complex have not been determined. We compared the efficacy of vigabatrin in patients with tuberous sclerosis complex-induced focal seizures and infantile spasms and assessed the mental outcomes in both groups. We retrospectively evaluated 31 children with tuberous sclerosis complex and epilepsy, who were treated with vigabatrin in a single tertiary center in Seoul, Korea. Vigabatrin treatment resulted in spasms cessation in 16 of 18 (88.9%) patients with infantile spasms, whereas 6 of 13 (46.2%) patients with focal seizures became seizure free. Initial response to vigabatrin had no effect on intellectual disability. Vigabatrin was highly effective in eliminating infantile spasms caused by tuberous sclerosis complex but was less effective in patients with focal seizures.

  10. Magnetic resonance imaging of intracranial lesions of tuberous sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Shimoizumi, Hideo; Miyao, Masutomo; Kobayashi, Shigeichi; Nakamigawa, Terutoshi; Yamamoto, Yoshifumi; Tanaka, Osamu; Yanagisawa, Masayoshi (Jichi Medical School, Minamikawachi, Tochigi (Japan))

    1989-07-01

    Six patients with tuberous sclerosis were evaluated with computed cranial tomography (CCT) and magnetic resonance imaging (MRI). The results were assessed in comparison with the clinical severity of the disease. The brain lesions were shown by MRI as low-signal areas on IR images (T1 weighted sequences) and high-signal areas on SE images (T2 weighted sequences). Three patients, who had severe psychomotor retardation (DQ<70) and intractable epileptic seizures following infantile spasms, had many cortical and subcortical lesions. In the other three patients, intelligence was normal or slightly retarded (DQ or IQ>70) and epileptic seizures were well controlled, and small subependymal lesions were observed. Cortical lesions were rare. These results indicate that MRI can detect more precisely intracranial lesions in tuberous sclerosis. (author).

  11. Genetics Home Reference: tuberous sclerosis complex

    Science.gov (United States)

    ... sclerosis, type 2 Genetics Education Materials for School Success (GEMSS) Massachusetts General Hospital Merck Manual Consumer Version ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  12. 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.

  13. Tuberous sclerosis complex: genetic basis and management strategies

    Directory of Open Access Journals (Sweden)

    Tsai V

    2012-02-01

    Full Text Available Victoria Tsai, Peter B CrinoPENN Epilepsy Center, PENN Tuberous Sclerosis Clinic, Department of Neurology and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USAAbstract: Tuberous sclerosis complex (TSC is an autosomal dominant genetic disorder that results from mutations in the TSC1 or TSC2 genes. TSC is a multisystem hamartoma syndrome with manifestations in the brain, heart, lungs, kidney, skin, and eyes. Neurologically, TSC patients may exhibit severe epilepsy, cognitive disabilities, and autism spectrum disorders. Many TSC patients also present with renal angiomyolipomas, polycystic kidney disease, skin lesions, and lymphangiomyomatosis. TSC1 and TSC2 proteins form a heterodimeric complex that serves to inhibit mammalian target of rapamycin (mTOR signaling pathway through Ras homolog enriched in brain (Rheb. TSC1 and TSC2 receive activating or inhibitory signals from multiple inputs including growth factors, insulin signaling, energy and amino acid levels, and proinflammatory pathways, which are then integrated to regulate the activity of the mTOR pathway. mTOR signaling plays a critical role in regulating cell growth, transcription, translation, and autophagy. Animal models have shed light on certain features of TSC, but failed to recapitulate the disease completely and currently further research is under way to better understand this devastating disorder. Clinical trials with mTOR inhibitors have shown promising results for some features of TSC, but further research needs to be conducted to establish full indications for therapeutic treatment.Keywords: tuberous sclerosis complex, TSC, TSC1, TSC2

  14. Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Romina Moavero

    2016-01-01

    Full Text Available Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior. We present a case report of a child with tuberous sclerosis who presented with infantile spasms at the age of 6 months, immediately treated with vigabatrin. Because of the presence of a subependymal giant cell astrocytoma, he also received everolimus since 18 months of age. We might wonder if an earlier treatment could have produced a better outcome; in fact, despite a targeted combined treatment, he continues to suffer from sporadic focal motor seizures, and at the age of 40 months, he presents severe developmental delay with autism-like behavior.

  15. 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

  16. [Bowel obstruction by hamartomatous polyp in a pediatric patient with tuberous sclerosis].

    Science.gov (United States)

    Scrigni, Adriana V; Bottero, Adriana; Bosaleh, Andrea; Aisenberg, Nuria; Paglia, Marcela; Manfrin, Lisandro; Luong, Tai C

    2017-06-01

    Tuberous sclerosis is an autosomal dominant disorder with a wide clinical spectrum of disease. It is characterized by development of benign tumors in multiple organs due to a disturbance in cellular growth and differentiation. It usually affects skin, brain, heart and kidney. Gastrointestinal involvement is rare and mainly restricted to adults and sigmoid colon and rectum. In children there are only two cases; our patient would be the third. We present a patient with tuberous sclerosis who began at the first month of life with repeated intestinal subocclusion. The videocolonoscopy showed a mass protruding into the lumen of the ascending colon. Right hemicolectomy was performed. The anatomopathological report corresponded to a hamartomatous polyp. The clinical and nutritional evolution in the postoperative period was very favorable. Although uncommon, the hamartomatous polyp should be considered in the differential diagnosis of intestinal occlusion in pediatrics. Sociedad Argentina de Pediatría.

  17. 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.

    2016-01-01

    On March 10–12, 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. This review summarizes outcomes from the extensive pre-meeting deliberations and final workshop recommendations, and includes: 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 timeframe. PMID:27267556

  18. 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.

  19. 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

  20. 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

  1. 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.

  2. 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.

  3. Coexistence of two neurocutaneous syndromes: Tuberous sclerosis and hypomelanosis of Ito

    Directory of Open Access Journals (Sweden)

    Muhammed K

    2007-01-01

    Full Text Available Tuberous sclerosis complex (TSC and hypomelanosis of Ito (HI are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. He also had facial angiofibromas, ash-leaf and confetti macules and shagreen patches. Magnetic resonance imaging of the brain showed cortical tubers and subependymal nodules; which are diagnostic of TSC. The TSC defining loci have been mapped to Chromosome 9q34 (TSC1 and 16 pl3.3 (TSC2. There is no common genetic background for HI, but mosaicism of 9q33 locus has been documented. As per our knowledge, this is the second case of association of TSC with HI in a four-year-old child.

  4. 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.

  5. Mammalian target of rapamycin inhibitors for treatment in tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Won Seop Kim

    2013-06-01

    Full Text Available Korean J Pediatr 2011;54:241-5. &lt;a href='http://dx.doi.org/10.3345/kjp.2011.54.6.241'&gt;http://dx.doi.org/10.3345/kjp.2011.54.6.241&lt;/a&gt;. PMID: 21949518 [PubMed] &lt;div style="border-top:1px solid #0092C8"&gt;&lt;/div&gt; The following article&lt;sup&gt;1&lt;/sup&gt; is being retracted as a part of the manuscript was plagiarized. Yeong-Ho Rha, MD, PhD Editor-in-Chief, Korean J Pediatr 1.Kim WS. Mammalian target of rapamycin inhibitors for treatment in tuberous sclerosis. Korean J Pediatr 2011;54:241-5.

  6. 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.)

  7. 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

  8. Imaging of tuberous sclerosis complex: a pictorial review

    Energy Technology Data Exchange (ETDEWEB)

    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)

  9. Vigabatrin as First-Line Treatment for Infantile Spasms Not Related to Tuberous Sclerosis Complex.

    Science.gov (United States)

    Jones, Kevin; Go, Cristina; Boyd, Jennifer; Ochi, Ayako; McCoy, Blathnaid; Puka, Klajdi; Snead, O Carter

    2015-08-01

    Infantile spasms are a rare, catastrophic, age-specific seizure disorder of infancy. Adrenocorticotropic hormone or vigabatrin have been recommended for the short-term treatment of infantile spasms by the Child Neurology Society/American Academy of Neurology practice parameter. This retrospective study reviewed the Hospital for Sick Children's experience with the short-term efficacy of vigabatrin as first-line treatment for infantile spasms not related to tuberous sclerosis complex. We performed a single-center, retrospective analysis of all cases of newly diagnosed infantile spasms between January 2010 and September 2013. Duration of follow-up was at least 6 months from treatment initiation. Eighteen of the 61 infants (30%) had a clinical and electrographic response to vigabatrin therapy within 4 weeks of treatment. Of the vigabatrin responders, 2/18 (11%) relapsed. At final follow-up after initiation of vigabatrin therapy, 17/61 (27%) of the vigabatrin responders were free of all clinical seizure types. Normal development at the time of infantile spasms diagnosis was statistically associated with vigabatrin response. These findings do not support our hypothesis that vigabatrin is effective as first-line, short-term treatment of infantile spasms in non-tuberous sclerosis complex patients. However, when used in this setting, vigabatrin is most effective in children with normal development at the time of diagnosis. These findings may assist clinicians in the optimal treatment choice for children at the first presentation of infantile spasms not related to tuberous sclerosis complex. Copyright © 2015 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    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

  11. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity.

    Science.gov (United States)

    Gipson, Tanjala T; Gerner, Gwendolyn; Srivastava, Siddharth; Poretti, Andrea; Vaurio, Rebecca; Hartman, Adam; Johnston, Michael V

    2014-09-01

    individuals with tuberous sclerosis complex; however, few data are available regarding practical clinical tools for early identification. In our case series, inclusion of the Capute Scales as a part of routine medical care led to the identification of developmental delays in the first 12 months of life and selection of targeted neurodevelopmental interventions. Development of a risk-based assessment using this approach will be the focus of future studies as it may provide a potential window of opportunity for both research and clinical purposes. In research, it may serve as an objective outcome measure. Clinically, this type of assessment has potential for informing clinical treatment decisions and serving as a prognostic indicator of long-term cognitive and psychiatric outcomes. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Tumor growth in patients with tuberous sclerosis complex on the ketogenic diet.

    Science.gov (United States)

    Chu-Shore, Catherine J; Thiele, Elizabeth A

    2010-04-01

    New evidence is emerging that the availability of nutrients plays a key role in regulating the mammalian target of rapamycin complex-1 (mTORC1) signaling pathway in human cancers. Tuberous sclerosis complex (TSC) is a genetic disorder which results in the growth of hamartomatous lesions in multiple organs due to insufficient suppression of the mTORC1 pathway. A minority of patients with TSC who develop epilepsy which is intractable to standard anticonvulsant medical and/or surgical treatments are treated with the ketogenic diet. To provide insight into the effects of nutrient manipulation on tumor growth in this condition, we describe our experience in a unique group of patients with known tuberous sclerosis complex who are on the ketogenic diet for seizure control. A retrospective chart review was performed of patients with TSC treated with the ketogenic diet between January 2002 and May 2007 at Massachusetts General Hospital. Five patients with definite TSC underwent serial imaging for tumor growth while on the ketogenic diet or had unchanged imaging prior to the onset of the diet and after termination. Three out of five patients, all children, had progression of a known tumor or tumors or the development of a new tumor while on the ketogenic diet. In this limited case series of five TSC patients, the ketogenic diet did not induce tumor regression or suppress the growth of TSC-related tumors. Copyright (c) 2009 Elsevier B.V. All rights reserved.

  13. Genetics of tuberous sclerosis complex: implications for clinical practice

    Directory of Open Access Journals (Sweden)

    Caban C

    2016-12-01

    Full Text Available Carolina Caban,1,2 Nubaira Khan,1,2 Daphne M Hasbani,3 Peter B Crino1,2 1Department of Neurology, 2Shriners Hospitals Pediatric Research Center, Temple University School of Medicine, 3Department of Neurology, St. Christopher’s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA Abstract: Tuberous sclerosis complex (TSC is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. There are more than 1,500 known pathogenic variants for TSC1 and TSC2, including deletion, nonsense, and missense mutations, and all pathogenic mutations are inactivating, leading to loss of function effects on the encoded proteins TSC1 and TSC2. These proteins form a complex to constitutively inhibit mechanistic target of rapamycin (mTOR signaling cascade, and as a consequence, mTOR signaling is constitutively active within all TSC-associated lesions. The mTOR inhibitors rapamycin (sirolimus and everolimus have been shown to reduce the size of renal and brain lesions and improve pulmonary function in TSC, and these compounds may also decrease seizure frequency. The clinical application of mTOR inhibitors in TSC has provided one of the first examples of precision medicine in a neurodevelopmental disorder. Keywords: TSC, epilepsy, genetics, mTOR, rapamycin

  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. Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role.

    Science.gov (United States)

    Cardis, Michael A; DeKlotz, Cynthia Marie Carver

    2017-09-01

    Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediatricians can be a catalyst for facilitating early implementation of treatment strategies and establishing appropriate follow-up care. The range of potential treatment options for symptomatic or disfiguring TSC-associated skin lesions includes non-pharmacological (surgical excision, laser therapy) and pharmacological (eg, topical or systemic mTOR inhibitors) alternatives. In this review, we discuss the relevance of TSC-associated skin findings, highlight available treatment options, review guideline recommendations and emphasise the role of the primary care physician in the management of this complex disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  16. Mammalian target of rapamycin inhibitors for treatment in tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Won Seop Kim

    2011-06-01

    Full Text Available Tuberous sclerosis complex (TSC is a genetic multisystem disorder that results from mutations in the TSC1 or TSC2 genes, and is associated with hamartomas in several organs, including subependymal giant cell tumors. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. The TSC1- and TSC2-encoded proteins modulate cell function via the mammalian target of rapamycin (mTOR signaling cascade, and are key factors in the regulation of cell growth and proliferation. The mTOR pathway provides an intersection for an intricate network of protein cascades that respond to cellular nutrition, energy levels, and growth factor stimulation. In the brain, TSC1 and TSC2 have been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation. The mTOR pathway represents a logical candidate for drug targeting, because mTOR regulates multiple cellular functions that may contribute to epileptogenesis, including protein synthesis, cell growth and proliferation, and synaptic plasticity. Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients.

  17. 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.)

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  19. 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

  20. Tuberous sclerosis complex and polycystic kidney disease contiguous gene syndrome with Moyamoya disease.

    Science.gov (United States)

    Lai, Jonathan; Modi, Lopa; Ramai, Daryl; Tortora, Matthew

    2017-04-01

    Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two diseases sharing close genetic loci on chromosome 16. Due to contiguous gene syndrome, also known as contiguous gene deletion syndrome, the proximity of TSC2 and PKD1 genes increases the risk of co-deletion resulting in a shared clinical presentation. Furthermore, Moyamoya disease (MMD) is a rare vaso-occlusive disease in the circle of Willis. We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses. We also highlight the clinical presentation and surgical complications in this case. Copyright © 2017 Elsevier GmbH. All rights reserved.

  1. Diffuse cerebral language representation in tuberous sclerosis complex.

    Science.gov (United States)

    Gallagher, Anne; Tanaka, Naoaki; Suzuki, Nao; Liu, Hesheng; Thiele, Elizabeth A; Stufflebeam, Steven M

    2013-03-01

    Tuberous sclerosis complex (TSC) is a multisystem genetic disorder affecting multiple organs, including the brain, and very often associated with epileptic activity. Language acquisition and development seems to be altered in a significant proportion of patients with TSC. In the present study, we used magnetoencephalography (MEG) to investigate spatiotemporal cerebral language processing in subjects with TSC and epilepsy during a reading semantic decision task, compared to healthy control participants. Fifteen patients with TSC and 31 healthy subjects performed a lexico-semantic decision task during MEG recording. Minimum-norm estimates (MNE) were computed allowing identification of cerebral generators of language evoked fields (EF) in each subject. Source analysis of the language EF demonstrated early bilateral medial occipital activation (125ms) followed by a fusiform gyrus activation around 135ms. At 270ms post stimuli presentation, a strong cerebral activation was recorded in the left basal temporal language area. Finally, cerebral activations were measured in Wernicke's area followed by Broca's area. The healthy control group showed larger and earlier language activations in Broca and Wernicke's areas compared to TSC patients. Moreover, cerebral activation from Broca's area was greater than activation from Wernicke's area in both groups, but this difference between anterior and posterior regions was smaller in the TSC group. Finally, the activation latency difference between Broca and Wernicke's areas was greater in healthy controls than in TSC patients, which shows that activations in these areas are more serial in control subjects compared to TSC patients in whom activations occur more simultaneously. This is the first study to investigate cerebral language pattern in patients with TSC. Compared to healthy controls, atypical neuromagnetic language responses may reflect cerebral reorganization in these patients in response to early epileptogenic activity or

  2. 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.)

  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. 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.)

  6. A novel TSC2 mutation in a Chinese family with tuberous sclerosis ...

    Indian Academy of Sciences (India)

    A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex. ZHENG YU1,2, XIN ZHANG1,2, HONG GUO1∗ and YUN BAI1∗. 1Department of Medical Genetics, College of Basic Medical Science and 2Undergraduate Student Brigade, Third Military. Medical University, Chongqing 400038, People's Republic ...

  7. A novel TSC2 mutation in a Chinese family with tuberous sclerosis ...

    Indian Academy of Sciences (India)

    [Yu Z., Zhang X., Guo H. and Bai Y. 2014 A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex. J. Genet. ... Journal of Genetics, Vol. 93, No. ... had facial angiofibroma. III 3 had mental retardation since childhood. There were no abnormalities observed in other family members. Molecular studies.

  8. 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

  9. 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…

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

    International Nuclear Information System (INIS)

    Xiao, Zheng; Xiang, Jing; Holowka, Stephanie; Chuang, Sylvester; Hunjan, Amrita; Sharma, Rohit; Otsubo, Hiroshi

    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.)

  11. [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.

  12. 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.

  13. 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...

  14. A novel TSC2 mutation in a Chinese family with tuberous sclerosis ...

    Indian Academy of Sciences (India)

    A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex. Zheng Yu, Xin Zhang, Hong Guo and Yun Bai. J. Genet. 93, 169–172. Table 1. Primer sequences for mutation analysis of TSC1 and TSC2. TSC1. Primer. Sequence. Amplicon size (bp). 450. 331. 639. 641. 973. 783. 1511. E1-F. E1-R. E2-F. E2-R.

  15. Facial angiofibromas of tuberous sclerosis treated with topical sirolimus in an Indian patient

    Directory of Open Access Journals (Sweden)

    Resham J Vasani

    2015-01-01

    Full Text Available Facial angiofibromas are the most visible and unsightly of all the cutaneous manifestations of tuberous sclerosis (TSC. A 17-year-old female, a known case of TSC, presented for the treatment of cosmetically disfiguring facial angiofibromas. She was started on twice daily application of 0.1% sirolimus ointment prepared from crushed tablets of sirolimus compounded in white soft paraffin. After 3 months of use, there was visible decrease in the erythema and the size of the angiofibromas. In an attempt to accelerate the response, the concentration was further increased to 1% sirolimus which was used for a month, resulting in a decrease not only in the size and redness but also in the number of the angiofibromas. The patient did not experience any cutaneous or systemic complications related to therapy. Sirolimus belongs to a novel class of anticancer drugs known as mTOR (mammalian target of Rapamycin inhibitors. Sirolimus has been used as a targeted therapy for the renal and neurological manifestations of TSC. Topical preparation of sirolimus is not commercially available till date and hence preparations from crushed tablets or oral solution of sirolimus have been used with beneficial effects in treatment of angiofibromas especially in younger patients with flatter lesions. Randomized controlled trials are necessary to enable us to confirm the efficacy, long-term safety, the optimal dosage and possibility of reappearance once the drug is withdrawn. This is possibly the first case report of the use of topical sirolimus in India.

  16. [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.

  17. Successful treatment of arrhythmia-induced cardiomyopathy in an infant with tuberous sclerosis complex.

    Science.gov (United States)

    Motoki, Noriko; Inaba, Yuji; Matsuzaki, Satoshi; Akazawa, Yohei; Nishimura, Takafumi; Fukuyama, Tetsuhiro; Koike, Kenichi

    2016-01-25

    Tuberous sclerosis complex (TSC) is an autosomal-dominant tumor suppressor gene syndrome that is characterized by the development of distinctive benign tumors and malformations in multiple organ systems (N Eng J Med 355:1345-1356, 2006). Cardiac rhabdomyomas are intracavitary or intramural tumors observed in 50-70 % of infants with TSC but only cause serious clinical problems in a very small fraction of these patients (N Eng J Med 355:1345-1356, 2006; Pediatrics 118:1146-1151, 2006; Eur J Pediatr 153:155-7, 1994); most individuals have no clinical symptoms and their tumors spontaneously regress. However, despite being clinically silent, these lesions can provoke arrhythmias and heart failure (Pediatrics 118:1146-1151, 2006; Eur J Pediatr 153:155-7, 1994). We here report the clinical findings of an infant suffering from TSC complicated with dilated cardiomyopathy (DCM) after the regression of cardiac rhabdomyomas. Although his tumors improved spontaneously, tachycardia and irregular heart rate due to frequent premature ventricular and supraventricular contractions persisted from the newborn period and were refractory to several medications. His cardiomyopathy was suspected to have been induced by the tachycardia or arrhythmia. We found carvedilol therapy to be safe and highly effective in treating the cardiomyopathy. To our knowledge, this is the first case report of TSC with DCM after regression of cardiac tumors and its successful treatment. The patient's clinical course suggests that careful life-long disease management is important, even in TSC patients without apparent symptoms.

  18. Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex

    Directory of Open Access Journals (Sweden)

    S. Amin

    2017-01-01

    Full Text Available Background. Facial angiofibromas affect most patients with tuberous sclerosis complex. They tend to progress, can cause recurrent bleeding and facial disfigurement, and have significant psychological effects. We reviewed the effectiveness and safety of topical sirolimus ointment 0.1%. We also assessed the effect of treatment on quality of life. Methods. We report our experience in using sirolimus ointment in 14 patients with TSC (9 children and 5 adults. The impact of sirolimus ointment was monitored with digital photography, dermatological review using a validated Facial Angiofibroma Severity Index (FASI, and quality of life assessments using the questionnaires PedsQL for children and SF36 for adults. Results. The FASI scores were improved in 12/14 cases after six months’ treatment, and improvement was more likely in children (median FASI scores of improvement after treatment were 3 points for children and 1 for adults. Proxy-reported PedsQL scores for the total psychosocial domain improved significantly in the children in the cohort with treatment. Conclusions. Sirolimus ointment 0.1% administered once a day was effective in treating facial angiofibromas. It appears to be safe and well tolerated and to have a positive impact on patients’ quality of life. It appeared to be most beneficial when started in childhood.

  19. 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.

  20. The Role of 5-Hydroxymethylcytosine in Gene Dysregulation of Epileptogenic Tubers in Tuberous Sclerosis Complex Patients

    Science.gov (United States)

    2015-10-01

    Torrent )  to   characterize  5hmC  in  DNA  of  epileptogenic  and  non-­‐epileptogenic  brain  tubers  that...could  successfully  modify  the  protocol  for  our  Ion   Torrent   platform.  During  the  period  of  May-­‐July  of...2015  we  performed  the  requisite  modifications  and  testing  of   the  modified  Ion   Torrent

  1. 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.)

  2. Tuberous sclerosis presenting as neonatal cyanosis because of rhabdomyoma causing tricuspid valve obstruction needing a Blalock-Taussig shunt

    Directory of Open Access Journals (Sweden)

    Monther Obeidat

    2018-01-01

    Full Text Available We report a newborn female baby who presented at 6 hours of age with cyanosis without any signs of respiratory distress. Cardiovascular and systemic examination was unremarkable apart from cyanosis (saturation 75%. An echocardiogram showed multiple echogenic and homogeneous masses in the interventricular septum, one of which was big and protruding through the tricuspid valve causing right ventricular inflow obstruction. There was a small atrial septal defect (ASD shunting right to left and patent ductus arteriosus (PDA shunting left to right. The provisional diagnosis was rhabdomyoma. Blalock-Taussig shunt was done to preserve the tricuspid valve, because these masses tend to regress spontaneously, which was the case after few months. Subsequently, the patient was diagnosed with tuberous sclerosis.

  3. 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.

  4. 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.)

  5. 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.)

  6. 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.

  7. 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.

  8. Understanding the Function of Tuberous Sclerosis Complex Genes in Neural Development: Roles in Synapse Assembly and Axon Guidance

    Science.gov (United States)

    2012-02-01

    with tuberous sclerosis as well as other epileptic syndromes. Finally, we examined the function of a key downstream element of TOR-TSC...enhances GABA(A) receptor cell-surface expression by a phosphatidylinositol 3-kinase/Akt pathway—Rele- vance to sepsis-associated encephalopathy . J

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

    African Journals Online (AJOL)

    For instance, cardiac rhabdomyomas may be identified with antenatal fetal ultrasound or in the ... with possible TSC when cardiac rhabdomyomas are identified on ultrasound. There are also cases where central ..... Many nurses, psychologists, occupational and speech and language therapists, and other community-based ...

  10. 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...

  11. Yield-enhancing and tuber-downsizing effects of transplantation cultivation method of case-held tuber seedlings in the sweet potato cultivar Beniharuka

    Directory of Open Access Journals (Sweden)

    Katsuki Adachi

    2016-01-01

    Full Text Available We developed transplantation cultivation method of case-held tuber seedlings (CTS, which was derived from direct planting method of seed tubers, and applied this method to the sweet potato cultivar Beniharuka. A plastic case made of polypropylene was designed for cultivation of CTS. Seed tubers of cultivar Beniharuka in the range of 30–80 g were cut in half. The half-cut tubers were placed inside the plastic cases, and the cases were filled with a commercial soil mix. The case-held tubers were incubated under natural sunlight in a glass house. After 3–4 wk, the CTS were transplanted into a field. Mother tuber (seed tuber enlargement was suppressed by the plastic confinement of the cases, and daughter tubers were formed above the case as vine-root-originated tubers. In the field experiments in 2012 and 2013, daughter tuber yields were increased 19% and 21% by case-held tuber seedling transplanting (CTST over conventional vine-planting (VP, the number of daughter tubers per plant in CTST were 36 and 68% higher than in VP, and the mother tuber yields were limited to 2.1 and 4.3% of the total fresh yield of mother and daughter tubers, respectively in 2012 and 2013. Application of CTST method to cultivar Beniharuka enhanced tuber yield, increased the number of daughter tubers per plant, downsized daughter tubers compared to VP, and mother tuber enlargement was suppressed by case-holding. The CTST method is expected to produce more and smaller good in shape tubers of cultivar Beniharuka compared to VP.

  12. 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.

  13. 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.

  14. 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

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

    Energy Technology Data Exchange (ETDEWEB)

    Pinto Gama, Hugo Pereira; Campos Meirelles, Rogerio Goncalves de; Mendonca do Rego, Jose Iram [Santa Casa de Misericordia de Sao Paulo, Section of Radiology, Sao Paulo (Brazil); Rocha, Antonio Jose da; Silva, Carlos Jorge da [Santa Casa de Misericordia de Sao Paulo, Section of Radiology, Centro de Medicina Diagnostica Fleury, Sao Paulo (Brazil); Braga, Flavio Tulio [Federal University of Sao Paulo, Escola Paulista de Medicina, Section of Radiology, Centro de Medicina Diagnostica Fleury, Santa Casa de Misericordia de Sao Paulo, Department of Diagnostic Imaging, Sao Paulo (Brazil); Martins Maia, Antonio Carlos [Federal University of Sao Paulo, Escola Paulista de Medicina, Section of Radiology, Centro de Medicina Diagnostica Fleury, Department of Neurology, Sao Paulo (Brazil); Lederman, Henrique Manoel [Federal University of Sao Paulo, Escola Paulista de Medicina, Division of Diagnostic Imaging in Pediatrics, Department of Diagnostic Imaging, Sao Paulo (Brazil)

    2006-02-01

    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.)

  16. Clinical patterns and outcomes of status epilepticus in patients with tuberous sclerosis complex

    Science.gov (United States)

    Shehata, Hatem S; AbdelGhaffar, Hadeer Mahmoud; Nasreldin, Mohammed; Elmazny, Alaa; Abdelalim, Ahmed; Sabbah, Asmaa; Shalaby, Nevin M

    2017-01-01

    Introduction Refractory epilepsy is a common clinical manifestation in patients with tuberous sclerosis complex (TSC), which can be complicated by many life-threatening conditions, such as status epilepticus (SE). However, very few reports mention the patterns and semiology of SE in those patients. Objective To study the clinical characteristics and outcomes of SE in TSC patients. Materials and methods This observational, prospective study was carried out on 36 Egyptian children with definite TSC. Clinical history, general and neurological examination and psychometric evaluation by standard questionnaires were used to explore characteristics of epileptic manifestations and clinical patterns of SE. All included patients were required to have long-term video electroencephalograms (EEGs) and brain MRI performed. Results A total of 32 attacks of SE were recorded in 21 patients (58.3%) in our cohort during a follow-up period of 2.8±1.1 years; of those patients, 15 had convulsive status, 7 had non-convulsive SE, 6 had refractory/super-refractory SE and 14 patients had a history of infantile spasms (epileptic spasms). The duration of status ranged from 40 to 150 min (mean ± standard deviation: 90±15). Fourteen patients with SE had severe mental retardation, 9 had autistic spectrum disorder and 22 had severe epileptogenic EEG findings. Patients with SE had higher tuber numbers (mean: 9.6), 5 patients had subependymal giant cell astrocytomas and 2 patients had their SE after receiving everolimus. Conclusions The incidence of SE in our patient sample is high (>50%); severe mental retardation, autistic features, history of infantile spasm (epileptic spasms) and high tuber burden are risk factors for developing SE. PMID:28721058

  17. Tuberous Sclerosis

    Science.gov (United States)

    ... and Nutrition Healthy Food Choices Weight Loss and Diet Plans Nutrients and Nutritional Info Sugar and Sugar Substitutes Exercise and Fitness Exercise Basics Sports Safety Injury Rehabilitation Emotional Well-Being Mental Health ...

  18. Tuberous Sclerosis

    Science.gov (United States)

    ... life. Seizures of all types may occur, including infantile spasms; tonic-clonic seizures (also known as grand mal ... atypical absence, myoclonic, complex partial or generalized squires. Infantile spasms can occur as soon as the day of ...

  19. 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

  20. Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis: A retrospective cohort study.

    Science.gov (United States)

    Wang, Yang-Yang; Pang, Ling-Yu; Ma, Shu-Fang; Zhang, Meng-Na; Liu, Li-Ying; Zou, Li-Ping

    2017-12-01

    Mental retardation (MR) is one of the most common cognitive comorbidities in children with tuberous sclerosis, and there are enormous studies about its risk factors. The genetic difference and the severity of epilepsy are the two main factors, but their weight in the occurrence of MR is still unclear. Two hundred twenty-three patients with tuberous sclerosis who received intelligence assessment, genetic mutation analysis, and the epilepsy severity assessment were included in our study. Genotype-neurocognitive phenotype correlations and epilepsy-neurocognitive phenotype correlations were analyzed by binary logistic regression analysis. No statistical significant result was found on genotype-neurocognitive phenotype correlations, which contrasted the previous report. The prevalence of MR was 50.0% for the patients with tuberous sclerosis complex-1 (TSC1) mutation, 54.5% for TSC2 (p=0.561), 54.7% for patients with protein-truncating (PT) and 50.0% for patients with nontruncating (NT) (p=0.791), and 54.3% for patients with family history and 53.7% for patients without family history (p=0.748). Statistical significant results were found on epilepsy-neurocognitive phenotype correlations, both on E-chess score (p=0.01) and the occurrence of infantile spasms (p=0.014), which was consistent to the previous study. For children with tuberous sclerosis, instead of genetic factors, epilepsy may play the main role for the presence of mental retardation. Patients with mental retardation tend to have earlier seizure attack, take more AEDs, have more seizure types, and have higher seizure frequency. Among the four cognitive functions in Denver II, social ability and language ability are more vulnerable to be influenced than fine and gross motor ability. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex

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    Franz DN

    2013-10-01

    Full Text Available David Neal Franz Department of Pediatrics, Tuberous Sclerosis Clinic, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA Abstract: Tuberous sclerosis complex (TSC is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. It is characterized by the development of multiple, benign tumors in several organs throughout the body. Lesions occur in the brain, kidneys, heart, liver, lungs, and skin and result in seizures and epilepsy, mental retardation, autism, and renal and pulmonary organ system dysfunction, as well as other complications. Elucidation of the molecular pathways and etiological factors responsible for causing TSC has led to a paradigm shift in the management and treatment of the disease. TSC1 or TSC2 mutations lead to constitutive upregulation of the mammalian target of rapamycin pathway, which affects many cellular processes involved in tumor growth. By targeting mammalian target of rapamycin with everolimus, an orally active rapamycin derivative, clinically meaningful and statistically significant reductions in tumor burden have been achieved for the main brain (subependymal giant cell astrocytoma and renal manifestations (angiomyolipoma associated with TSC. This review provides an overview of TSC, everolimus, and the clinical trials that led to its approval for the treatment of TSC-associated subependymal giant cell astrocytoma and renal angiomyolipoma. Keywords: everolimus, subependymal giant cell astrocytoma, angiomyolipomas, lymphangioleiomyomatosis, facial angiofibromas, tuberous sclerosis complex

  2. Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models

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    Laura Magri

    2013-09-01

    Tuberous sclerosis complex (TSC is a dominantly inherited disease with high penetrance and morbidity, and is caused by mutations in either of two genes, TSC1 or TSC2. Most affected individuals display severe neurological manifestations – such as intractable epilepsy, mental retardation and autism – that are intimately associated with peculiar CNS lesions known as cortical tubers (CTs. The existence of a significant genotype-phenotype correlation in individuals bearing mutations in either TSC1 or TSC2 is highly controversial. Similar to observations in humans, mouse modeling has suggested that a more severe phenotype is associated with mutation in Tsc2 rather than in Tsc1. However, in these mutant mice, deletion of either gene was achieved in differentiated astrocytes. Here, we report that loss of Tsc1 expression in undifferentiated radial glia cells (RGCs early during development yields the same phenotype detected upon deletion of Tsc2 in the same cells. Indeed, the same aberrations in cortical cytoarchitecture, hippocampal disturbances and spontaneous epilepsy that have been detected in RGC-targeted Tsc2 mutants were observed in RGC-targeted Tsc1 mutant mice. Remarkably, thorough characterization of RGC-targeted Tsc1 mutants also highlighted subventricular zone (SVZ disturbances as well as STAT3-dependent and -independent developmental-stage-specific defects in the differentiation potential of ex-vivo-derived embryonic and postnatal neural stem cells (NSCs. As such, deletion of either Tsc1 or Tsc2 induces mostly overlapping phenotypic neuropathological features when performed early during neurogenesis, thus suggesting that the timing of mTOR activation is a key event in proper neural development.

  3. 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.

  4. Recent Advances and Challenges of mTOR Inhibitors Use in the Treatment of Patients with Tuberous Sclerosis Complex

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    Filipe Palavra

    2017-01-01

    Full Text Available Tuberous sclerosis complex (TSC is a genetic condition characterized by the presence of benign, noninvasive, and tumor-like lesions called hamartomas that can affect multiple organ systems and are responsible for the clinical features of the disease. In the majority of cases, TSC results from mutations in the TSC1 and TSC2 genes, leading to the overactivation of the mammalian target of rapamycin (mTOR signalling pathway, which controls several cell functions, including cell growth, proliferation, and survival. The establishment of a connection between TSC and mTOR led to the clinical use of drugs known as mTOR inhibitors (like rapamycin, also known as sirolimus and everolimus, which are becoming an increasingly interesting tool in the management of TSC-associated features, such as subependymal giant cell astrocytomas, renal angiomyolipomas, and also epilepsy. However, the intrinsic characteristics of these drugs and their systemic effects in such a heterogeneous condition pose many challenges in clinical practice, so that some questions remain unanswered. This article provides an overview of the pharmacological aspects of mTOR inhibitors about the clinical trials leading to their approval in TSC-related conditions and exposes current challenges and future directions associated with this promising therapeutic line.

  5. Everolimus and intensive behavioral therapy in an adolescent with tuberous sclerosis complex and severe behavior.

    Science.gov (United States)

    Gipson, Tanjala T; Jennett, Heather; Wachtel, Lee; Gregory, Mary; Poretti, Andrea; Johnston, Michael V

    2013-01-01

    Self-injury and aggression have been reported in individuals with TSC (tuberous sclerosis complex), yet few data exist about treatment. Everolimus, an mTOR inhibitor, has been FDA-approved for subependymal giant cell astrocytomas (SEGAs) and renal angiomyolipomas in TSC. However, clinical use of everolimus with direct, real-time observations of self-injury and aggression in an individual with TSC has not been reported. During an inpatient admission to a neurobehavioral unit, real-time measurements of behaviors and seizures were recorded. An interdisciplinary team used these data to make treatment decisions and applied behavioral and pharmacological treatments, one at a time, in order to evaluate their effects. Aggression and self-injury improved with applied behavioral analysis (ABA), lithium, and asenapine. Improvements in SEGA size, facial angiofibromas, seizures, and the most stable low rates of self-injury were observed during the interval of treatment with everolimus. Mechanism-based treatments in the setting of an evidence-based behavioral and psychopharmacological intervention program may be a model with utility for characterization and treatment of individuals with severe behavior and TSC.

  6. Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders.

    Science.gov (United States)

    Lewis, William W; Sahin, Mustafa; Scherrer, Benoit; Peters, Jurriaan M; Suarez, Ralph O; Vogel-Farley, Vanessa K; Jeste, Shafali S; Gregas, Matthew C; Prabhu, Sanjay P; Nelson, Charles A; Warfield, Simon K

    2013-07-01

    The purpose of this study was to examine the relationship between language pathways and autism spectrum disorders (ASDs) in patients with tuberous sclerosis complex (TSC). An advanced diffusion-weighted magnetic resonance imaging (MRI) was performed on 42 patients with TSC and 42 age-matched controls. Using a validated automatic method, white matter language pathways were identified and microstructural characteristics were extracted, including fractional anisotropy (FA) and mean diffusivity (MD). Among 42 patients with TSC, 12 had ASD (29%). After controlling for age, TSC patients without ASD had a lower FA than controls in the arcuate fasciculus (AF); TSC patients with ASD had even a smaller FA, lower than the FA for those without ASD. Similarly, TSC patients without ASD had a greater MD than controls in the AF; TSC patients with ASD had even a higher MD, greater than the MD in those without ASD. It remains unclear why some patients with TSC develop ASD, while others have better language and socio-behavioral outcomes. Our results suggest that language pathway microstructure may serve as a marker of the risk of ASD in TSC patients. Impaired microstructure in language pathways of TSC patients may indicate the development of ASD, although prospective studies of language pathway development and ASD diagnosis in TSC remain essential.

  7. 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.

  8. Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.

    Science.gov (United States)

    Byrne, Marguerite; Mallipeddi, Raj; Pichert, Gabriella; Whittaker, Sean

    2012-05-01

    Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant condition caused by mutations in the gene which codes for folliculin (FLCN). It is characterised clinically by fibrofolliculomas, trichodiscomas, pulmonary cysts, spontaneous pneumothoraces and renal cancers. This case illustrates a patient with BHDS and a renal angiomyolipoma. Angiomyolipomas are not described as a feature of BHDS, but rather they can occur sporadically or in tuberous sclerosis complex (TSC). Recent studies suggest that clinical similarities between BHDS and TSC may be explained by FLCN and TSC proteins functioning on a common pathway, mammalian target of rapamycin. This case adds to the literature of cases with clinical similarities. © 2011 The Authors. Australasian Journal of Dermatology © 2011 The Australasian College of Dermatologists.

  9. Decreased language laterality in tuberous sclerosis complex: a relationship between language dominance and tuber location as well as history of epilepsy.

    Science.gov (United States)

    Gallagher, Anne; Tanaka, Naoaki; Suzuki, Nao; Liu, Hesheng; Thiele, Elizabeth A; Stufflebeam, Steven M

    2012-09-01

    Nearly 90% of patients with tuberous sclerosis complex (TSC) have epilepsy. Epilepsy surgery can be considered, which often requires a presurgical assessment of language lateralization. This is the first study to investigate language lateralization in TSC patients using magnetoencephalography. Fifteen patients performed a language task during magnetoencephalography recording. Cerebral generators of language-evoked fields (EF) were identified in each patient. Laterality indices (LI) were computed using magnetoencephalography data extracted from the inferior frontal as well as middle and superior temporal gyri from both hemispheres between 250 and 550 ms. Source analysis demonstrated a fusiform gyrus activation, followed by an activation located in the basal temporal language area and middle and superior temporal gyri responses, ending with an inferior frontal activation. Eleven patients (73.3%) had left-hemisphere language dominance, whereas four patients (26.7%) showed a bilateral language pattern, which was associated with a history of epilepsy and presence of tubers in language-related areas. Copyright © 2012 Elsevier Inc. All rights reserved.

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

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    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

  11. TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

    Science.gov (United States)

    Bykhovskaya, Yelena; Fardaei, Majid; Khaled, Mariam Lotfy; Nejabat, Mahmood; Salouti, Ramin; Dastsooz, Hassan; Liu, Yutao; Inaloo, Soroor; Rabinowitz, Yaron S

    2017-12-01

    To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC. Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. Identified mutation was confirmed by Sanger DNA sequencing. Whole exome sequencing (WES) was performed in patients with nonsyndromic KC. Sanger DNA sequencing was used to confirm WES results and to screen additional patients. RT-PCR was used to investigate TSC1 expression in seven normal human corneas and eight corneas from patients with KC. Various in silico tools were employed to model functional consequences of identified mutations. A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC. Two heterozygous missense TSC1 variants g.132896322A>T (c.3408A>T, p.Asp1136Glu) and g.132896452G>A (c.3278G>A, p.Arg1093Gln) were identified in three patients with nonsyndromic KC. Two mutations were not present in The Genome Aggregation (GnomAD), The Exome Aggregation (ExAC), and 1000 Genomes (1000G) databases, while the third one was present in GnomAD and 1000G with minor allele frequencies (MAF) of 0.00001 and 0.0002, respectively. We found TSC1 expressed in normal corneas and KC corneas, albeit with various levels. Here for the first time we found TSC1 gene to be involved in bilateral KC and TSC as well as with nonsyndromic KC, supporting the hypothesis that diverse germline mutations of the same gene can cause genetic disorders with overlapping clinical features.

  12. Ungual fibroma in 12-year-old boy with hypomelanotic macules, intellectual disability and attention deficit hyperactivity disorder—possible tuberous sclerosis

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    Nedeljka Glavan

    2016-08-01

    Full Text Available Objective: To report a case of a 12-year-old boy with intellectual disability and attention deficit hyperactivity disorder, who came to surgery for an examination due to a minor bulge on the left thumb, which had been growing for the previous month. His mother denied any trauma. Methods: After the removal of the clinically ambiguous bulge and a pathohistological confirmation that it was a periungual fibroma, complete patient analysis was performed due to the presence of hypomelanotic macules and a suspected tuberous sclerosis. Results: Considering the presence of hypomelanotic macules, as one of the main criteria, possible TS diagnosis was set. Conclusion: Early detection of the symptoms of TS enables a timely provision of protocols for further patient monitoring, which affects the patient’s morbidity and mortality.

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

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    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.

  14. Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex.

    Science.gov (United States)

    Hess, Evan J; Moody, Kirsten A; Geffrey, Alexandra L; Pollack, Sarah F; Skirvin, Lauren A; Bruno, Patricia L; Paolini, Jan L; Thiele, Elizabeth A

    2016-10-01

    Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder with highly variable expression. The most common neurologic manifestation of TSC is epilepsy, which affects approximately 85% of patients, 63% of whom develop treatment-resistant epilepsy. Herein, we evaluate the efficacy, safety, and tolerability of cannabidiol (CBD), a nonpsychoactive compound derived from the marijuana plant, as an adjunct to current antiepileptic drugs in patients with refractory seizures in the setting of TSC. Eighteen of the 56 patients who have enrolled in our current expanded-access study of cannabidiol for patients with treatment-resistant epilepsy carry a diagnosis of TSC. After an initial baseline period of 1 month, patients began treatment with CBD. The initial dose of 5 mg/kg/day was increased by 5 mg/kg/day every week up to a maximum dose of 50 mg/kg/day, if tolerated. Weekly seizure frequencies, percent change in seizure frequencies, and responder rates were calculated during the 2nd, 3rd, 6th, 9th, and 12th month of treatment with CBD. The median weekly seizure frequency during the baseline period was 22.0 (interquartile range [IQR] 14.8-57.4), which decreased to 13.3 (IQR 5.1-22.1) after 3 months of treatment with cannabidiol. The median percent change in total weekly seizure frequency was -48.8% (IQR -69.1% to -11.1%) after 3 months of treatment. The 50% responder rates over the course of the study were 50%, 50%, 38.9%, 50%, and 50% after 2, 3, 6, 9, and 12 months of treatment with CBD, respectively. In patients taking clobazam concurrently with CBD (n = 12), the responder rate after 3 months of treatment was 58.3%, compared to 33.3% in patients not taking clobazam (n = 6). Twelve (66.7%) of 18 patients in this study experienced at least one adverse event thought possibly related to CBD; the most common adverse events were drowsiness (n = 8, 44.4%), ataxia (n = 5, 27.8%), and diarrhea (n = 4, 22.2%). Although double-blind, placebo

  15. New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders (TAND [version 1; referees: 3 approved

    Directory of Open Access Journals (Sweden)

    Tanjala T. Gipson

    2017-06-01

    Full Text Available Tuberous sclerosis complex (TSC is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR signaling. TSC is commonly associated with autism (61%, intellectual disability (45%, and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND. More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures. Development of the mTOR inhibitors everolimus and sirolimus has led to considerable progress in the treatment of renal angiomyolipomata, pulmonary lymphangioleiomyomatosis, and subependymal giant cell astrocytomas in the brain. However, similar therapeutic progress is needed in the treatment of TAND.

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

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    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.

  17. Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy

    Directory of Open Access Journals (Sweden)

    Capal JK

    2016-08-01

    Full Text Available Jamie K Capal, David Neal Franz Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Tuberous sclerosis complex (TSC is a relatively rare genetic disorder, affecting one in 6,000 births. Mammalian target of rapamycin (mTOR inhibitors, such as everolimus, which have been previously used to prevent solid organ transplant rejection, augment anticancer treatment regimens, and prevent neovascularization of artificial cardiac stents, are now approved for treating TSC-related manifestations, such as subependymal giant cell astrocytomas and renal angiomyolipomas. The use of everolimus in treating subependymal giant cell astrocytomas is supported by long-term Phase II and III clinical trials. Seizures are a common feature in TSC, occurring in up to 96% of patients. While mTOR inhibitors currently do not have regulatory approval in treating this manifestation, small clinical studies have demonstrated beneficial outcomes with everolimus. Further evidence from a forthcoming Phase III clinical study may provide additional support for the use of everolimus for this indication. Also, there are no approved treatments for TSC-associated neuropsychiatric disorders, which include intellectual disability, behavioral difficulties, and autism spectrum disorder, but preclinical data and small studies have suggested that some neuropsychiatric symptoms may be improved through mTOR inhibition therapy. More evidence is needed, particularly regarding safety in young infants. This review focuses on the current evidence supporting the use of everolimus in neurologic and neuropsychiatric manifestations of TSC, and the place of everolimus in therapy. Keywords: everolimus, tuberous sclerosis complex, subependymal giant cell astrocytomas, seizures, TAND

  18. Blindness in Tuberous Sclerosis: A Case Report | Olaosebikan ...

    African Journals Online (AJOL)

    Nigerian Journal of Paediatrics. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 42, No 4 (2015) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should load here if your ...

  19. 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

  20. 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

  1. Amyotrophic Lateral Sclerosis and Multiple Sclerosis Overlap: A Case Report

    Directory of Open Access Journals (Sweden)

    Francesca Trojsi

    2012-01-01

    Full Text Available The concurrence of amyotrophic lateral sclerosis (ALS and multiple sclerosis (MS is extremely rare. We reported the case of a 33-year-old woman with a past history of paresthesias at the right hand, who developed progressive quadriparesis with muscular atrophy of limbs and, finally, bulbar signs and dyspnea. Clinical and neurophysiologic investigations revealed upper and lower motor neuron signs in the bulbar region and extremities, suggesting the diagnosis of ALS. Moreover, magnetic resonance imaging (MRI and cerebrospinal fluid (CSF analysis demonstrated 3 periventricular and juxtacortical lesions, hyperintense in T2 and FLAIR sequences, and 3 liquoral immunoglobulin G (IgG oligoclonal bands, consistent with diagnosis of primary progressive MS (PPMS. This unusual overlap of ALS and MS leads to the discussion of a hypothetical common pathological process of immunological dysfunction in these two disorders, although the role of immune response in ALS remains ambivalent and unclear.

  2. Low-dose rapamycin reduces kidney volume angiomyolipomas and prevents the loss of renal function in a patient with tuberous sclerosis complex.

    Science.gov (United States)

    Peces, Ramón; Peces, Carlos; Cuesta-López, Emilio; Pérez-Dueñas, Virginia; Vega-Cabrera, Cristina; Azorín, Sebastián; Selgas, Rafael

    2010-11-01

    Tuberous sclerosis complex (TSC) is caused by constitutively activated mammalian target of rapamycin (mTOR) resulting in non-malignant tumours of several organs including renal angiomyolipomas (AMLs). AMLs may originate renal failure, hypertension and spontaneous life-threatening bleeding. Recent reports suggest a possible beneficial role of the mTOR inhibitor rapamycin for TSC. However, safety and efficiency of rapamycin in TSC patients as an anti-proliferative agent are still undefined. A 40-year-old man with sporadic TSC and a history of spontaneous bleeding from his left kidney AMLs received low-dose rapamycin for 12 months, and this was associated with a reduction in bilateral kidney AML volume, stabilization and even improvement of renal function. There was also a reduction of facial angiofibromas, improvement of blood pressure control and absence of AML bleeding over this time period. Brain lesion images remained stable, and no significant rapamycin-associated side effects were noted. To the best of our knowledge, this is the first report of a case of reduction in renal AML volume together with preservation of renal function in a patient with TSC receiving low-dose rapamycin. These data suggest that it could be the result of the anti-angiogenic, anti-fibrotic and anti-proliferative effects of rapamycin.

  3. 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.

  4. 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.

  5. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

    Science.gov (United States)

    Tyburczy, Magdalena E; Jozwiak, Sergiusz; Malinowska, Izabela A; Chekaluk, Yvonne; Pugh, Trevor J; Wu, Chin-Lee; Nussbaum, Robert L; Seepo, Sara; Dzik, Tomasz; Kotulska, Katarzyna; Kwiatkowski, David J

    2015-04-01

    Tuberous sclerosis complex (TSC) is a genetic disorder characterized by seizures and tumor formation in multiple organs, mainly in the brain, skin, kidney, lung and heart. Renal cell carcinoma (RCC) occurs in ∼3% of TSC patients, and typically develops at age 1 tumor. The second (male) TSC patient had bilateral partial nephrectomies (both at age 36), with similar findings of multifocal PRCC. NGS analysis of TSC2 in two of these tumors identified a second hit mutation c.2355+1G>T in one sample that was not seen in other tumors. In conclusion, we report the first detailed genetic analysis of RCCs in TSC patients. Molecular studies indicate that tumors developed independently due to various second hit events, suggesting that these patients experienced a 'shower' of second hit mutations in TSC2 during kidney development leading to this severe phenotype. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  6. Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development

    Science.gov (United States)

    Rennebeck, Gabriela; Kleymenova, Elena V.; Anderson, Rebecca; Yeung, Raymond S.; Artzt, Karen; Walker, Cheryl L.

    1998-01-01

    Germline defects in the tuberous sclerosis 2 (TSC2) tumor suppressor gene predispose humans and rats to benign and malignant lesions in a variety of tissues. The brain is among the most profoundly affected organs in tuberous sclerosis (TSC) patients and is the site of development of the cortical tubers for which the hereditary syndrome is named. A spontaneous germline inactivation of the Tsc2 locus has been described in an animal model, the Eker rat. We report that the homozygous state of this mutation (Tsc2Ek/Ek) was lethal in mid-gestation (the equivalent of mouse E9.5–E13.5), when Tsc2 mRNA was highly expressed in embryonic neuroepithelium. During this period homozygous mutant Eker embryos lacking functional Tsc2 gene product, tuberin, displayed dysraphia and papillary overgrowth of the neuroepithelium, indicating that loss of tuberin disrupted the normal development of this tissue. Interestingly, there was significant intraspecies variability in the penetrance of cranial abnormalities in mutant embryos: the Long–Evans strain Tsc2Ek/Ek embryos displayed these defects whereas the Fisher 344 homozygous mutant embryos had normal-appearing neuroepithelium. Taken together, our data indicate that the Tsc2 gene participates in normal brain development and suggest the inactivation of this gene may have similar functional consequences in both mature and embryonic brain. PMID:9861021

  7. Comorbidity of Bipolar Disorder and Multiple Sclerosis: A Case Report

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-08-01

    Full Text Available Multiple sclerosis is a chronic demyelinating disease of a central nervous system. Neuropsychiatric symptoms are common in multiple sclerosis and bipolar disorder is one of the most common psychiatric disorders that coexist with multiple sclerosis. Manic episodes may be the first presenting symptom of multiple sclerosis as comorbid pathology or as an adverse effect of pharmacotherapies used in multiple sclerosis. The comorbidity of bipolar disorder and multiple sclerosis is well-proven but its etiology is not known and investigated accurately. Recent studies support a common genetic susceptibility. Management of bipolar disorder in multiple sclerosis is based on evidence provided by case reports and treatment should be individualized. In this report, the association between bipolar disorder and multiple sclerosis, epidemiology, ethiology and treatment is discussed through a case had diagnosed as multiple sclerosis and had a manic episode with psychotic features. [Cukurova Med J 2013; 38(4.000: 832-836

  8. [Special cases of multiple sclerosis].

    Science.gov (United States)

    Mendibe Bilbao, Mar

    2014-12-01

    Multiple sclerosis is a chronic disease that usually occurs in young people and affects them for the rest of their lives. Patients and their families usually have a series of doubts and questions on everyday matters and all types of situations that occur during the distinct stages of life and which can influence the course of the disease. The aim of this review is to provide specific answers to these questions. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  9. 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.

  10. Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial.

    Science.gov (United States)

    Robles, Nicolás Roberto; Peces, Ramón; Gómez-Ferrer, Álvaro; Villacampa, Felipe; Álvarez-Ossorio, Jose Luis; Pérez-Segura, Pedro; Morote, Juan; Herrera-Imbroda, Bernardo; Nieto, Javier; Carballido, Joaquín; Anido, Urbano; Valero, Marian; Meseguer, Cristina; Torra, Roser

    2016-09-26

    Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/embolization. We provide further insight into everolimus safety and efficacy for TSC-related AML. This was a Spanish expanded access trial including patients aged ≥18 years with TSC-related AML. They received 10 mg everolimus once daily until AML progression, unacceptable toxicity, death/withdrawal, commercialisation for TSC-related AML, or 1 year after first patient enrolment. The primary outcome was dose-limiting safety according to grade 3/4 adverse events, serious adverse events, or adverse events leading to treatment modification. Secondary outcomes included overall safety and efficacy. Nineteen patients were enrolled and received everolimus for a median of 6.6 (5.3-10.9) months. Eleven (57.9 %) remained on 10 mg/day throughout the study and eight (42.1 %) required treatment modifications due to adverse events; none permanently discontinued treatment. Adverse events were overall grade 1/2 and most frequently included aphthous stomatitis/mucosal inflammation, hypercholesterolaemia/hypertriglyceridaemia, urinary tract infection, hypertension, dermatitis acneiform, and insomnia. Four (21.1 %) patients experienced grade 3 adverse events, none was grade 4, and only one (5.3 %) was serious (pneumonia). AML volume was reduced ≥30 % in 11 (57.9 %) patients and ≥50 % in 9 (47.4 %); none progressed. Right and left kidney sizes decreased in 16 and 14 patients, respectively. These findings support the benefit of everolimus for renal AML due to a manageable safety profile accompanied by reduced AML and kidney volumes. EudraCT number 2012-005397-63 ; date of registration 22 Nov 2012.

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

    Directory of Open Access Journals (Sweden)

    Iwan Jones

    2015-12-01

    Full Text Available 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.

  12. Shaving and dermabrasion in tuberous sclerosis ·of the facial lesions

    African Journals Online (AJOL)

    1989-08-19

    Aug 19, 1989 ... A case is reported where multiple angiofibromas of the face resulted in significant disfigurement. ... During this hospitalisation, the child suffered multiple seizures, which necessitated anti-epileptic drug therapy. ... Intelligence varies depending on the extent of the disease. Approximately 50% of cases of ...

  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. Case Report: Angiomyolipoma of the cervix – report of a rare entity ...

    African Journals Online (AJOL)

    To the best of our knowledge, only 4 cases of AML in the cervix have been reported in the literature. Association of AML with tuberous sclerosis is well known. Presently AML is included in the spectrum of disease entities called PEComa. We report a case of AML without tuberous sclerosis arising from the uterine cervix, ...

  15. 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

  16. Recurrent myelinoclastic diffuse sclerosis: a case report of a child with Schilder's variant of multiple sclerosis

    International Nuclear Information System (INIS)

    Fitzgerald, M.J.; Coleman, L.T.

    2000-01-01

    Myelinoclastic diffuse sclerosis (MDS, Schilder's disease) is a rare CNS demyelinating disorder affecting mainly children and usually presenting as an intracranial mass lesion. We report the first case of recurrent intracranial MDS where the third episode of demyelination involved the cervical spinal cord. This may represent a subset of the disease, which should be considered as Schilder's variant (childhood form) of multiple sclerosis. (orig.)

  17. Astrocitoma subependimário de células gigantes em pacientes com esclerose tuberosa: achados em ressonância magnética de dez casos Subependymal giant cell astrocytoma in patients with tuberous sclerosis: magnetic resonance imaging findings in ten cases

    Directory of Open Access Journals (Sweden)

    Karina Takata

    2007-06-01

    Full Text Available OBJETIVO: Relatar os achados de ressonância magnética (RM em 10 casos de astrocitoma subependimário de células gigantes (ASCG em pacientes com esclerose tuberosa (ET. MÉTODO: Foram estudados de forma retrospectiva 10 pacientes com ET e diagnóstico histológico comprovado de ASCG. Quatro pacientes eram do sexo masculino e seis do feminino, com idade média de 15,7 anos. Todos os pacientes foram investigados com RM, sendo os exames revisados por dois radiologistas, havendo decisão por consenso sobre os achados de imagem. Foram analisados os seguintes achados: localização, dimensões, intensidade de sinal em T1/T2, realce pós-contraste e outros achados associados. RESULTADOS: Todos os pacientes apresentaram lesão única sugestiva de ASCG, medindo entre 1,5 cm e 8 cm em seu maior diâmetro. Oito lesões foram encontradas junto ao forame de Monro (80% e duas adjacentes ao corpo do ventrículo lateral (20%. Os tumores apresentavam nas imagens pesadas em T1 médio sinal (70% e em T2 alto sinal (100%, com realce intenso após a administração do gadolínio (100%. CONCLUSÃO: Os astrocitomas subependimários de células gigantes em pacientes com ET em geral apresentam-se como lesão única próxima ao forame de Monro, com médio sinal nas imagens ponderadas em T1, alto sinal em T2 e realce intenso após a administração de contraste.OBJECTIVE: To report the magnetic resonance imaging (MRI findings in 10 patients with subependimal giant cell astrocytoma (SGCA and tuberous sclerosis (TS. METHOD: Ten patients were retrospectively studied, presenting TS and histologically proven SGCA. Four patients were male and six female, with mean age 15.7 years. All patients underwent MRI, which was analyzed by two radiologists, final diagnosis was reached by consensus. The following findings were studied: topography, size, signal intensity on T1/T2-weighted images, contrast enhancement and associated findings. RESULTS: All patients presented a single lesion

  18. Tuberous Sclerosis with Epilepsy

    Science.gov (United States)

    2009-02-01

    properly titrated ketogenic diet , antiepileptic medications, and VNS. Effective detection and treatment of epilepsy in TS patients will help...safety of the ketogenic diet for intractable childhood epilepsy : Korean multicentric experience”. Epilepsia 2005; 46:272. 7) Ben-Menachem, E...seizures. She uses a vagal nerve stimulator (VNS) set at maximum level, and she is maintained on a modified ketogenic diet to help control seizure

  19. Tuberous Sclerosis Syndrome

    Science.gov (United States)

    ... to Content ASCO.org Conquer Cancer Foundation ASCO Journals Donate eNews Signup f Cancer.net on Facebook t Cancer.net on Twitter q Cancer.net on YouTube g Cancer.net on Google Menu Home Types of Cancer Navigating Cancer Care Coping With Cancer Research and Advocacy Survivorship Blog About ...

  20. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    OpenAIRE

    Bakare, Muideen O; Ikegwuonu, Nkeiruka N

    2008-01-01

    Abstract Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports ...

  1. 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

  2. Periareolar augmentation mastopexy: A new approach dealing with the cases as tuberous breasts

    Directory of Open Access Journals (Sweden)

    Roberto Molto-Garcia

    2016-01-01

    Full Text Available Background: Periareolar augmentation mastopexy is one of the most demanded operations at Plastic Surgery clinics. Nevertheless, it is one of the leads of malpractice claims in United States caused by the high patient expectations and the standard surgical techniques which may result in common complications. The aim of this report is to present a new surgical approach to solve these complications. Methods: After establishing a working hypothesis, we performed a revision study of our patients and we came to the following conclusion: in order to perform a periareolar mastopexy for ptosis correction, breast has to be tuberous at any level and to have abnormally short inferior pole. These findings may explain the main complications from periareolar augmentation mastopexy with the standard surgical techniques. Consequently, we started a prospective observational study including 56 patients following a new surgical technique which deals the cases as tuberous breasts. Results: During three years, fifty-six periareolar mastopexies were performed with this new surgical approach with one year follow-up. No major complications were observed and 40 of the patients (71% described the results as very positive. Conclusion: “If a periareolar mastopexy can be performed, then it must be a tuberous breast”. According to this, a new surgical technique for periareolar augmentation mastopexy has been developed obtaining an improvement in our surgical results and achieving a totally different view on this pathology, which has not been reported in literature yet.

  3. Congestive cardiac failure in a patient with systemic sclerosis: Case ...

    African Journals Online (AJOL)

    Congestive cardiac failure in a patient with systemic sclerosis: Case report and literature review. ... The presence of CCF in patients with SSe is a poor prognostic marker and cause of mortality and morbidity, ... not been reported in Nigerians. Keywords: Systemic sclerosis; Primary Cardiac Disease; Heart failure; Nigerians ...

  4. Progressive Systemic sclerosis, manifested like malabsorption syndrome. Case report

    International Nuclear Information System (INIS)

    Ortiz Piza, Gabriel Jaime; Gonzalez Vasquez, Carlos Mario

    2005-01-01

    We report the case of a 32 year old woman whose first manifestation of systemic sclerosis was malabsorption syndrome. The small bowel series was the clue to the diagnosis, confirmed by laboratory tests and progression of the disease

  5. A tuber calcanei avulsion fracture developed on the basis of idiopathic osteoporosis in a young male: a case report.

    Science.gov (United States)

    Terzi, R; Özer, T

    2015-09-01

    Calcaneus fractures constitute 1.2 % of all fractures. Tuber calcanei avulsion fractures constitute 1.3-2.7 % of calcaneus fractures. Osteoporosis, osteomalacia, and diabetes mellitus have been reported to increase the risk of development of these fractures. It has been reported that tuber calcanei avulsion fractures in elderly females might develop due to osteoporosis. As far as we know, no tuber calcanei avulsion fracture developing on the basis of osteoporosis without presence of a trauma has been reported in young males in the literature. In the current case report, a 41-year-old male patient who was admitted with complaints of pain in the left heel and diagnosed with calcaneal avulsion fracture that developed on the basis of idiopathic osteoporosis and who was treated with conservative methods was presented.

  6. Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Pollizzi Kristen

    2009-06-01

    Full Text Available Abstract Background Tuberous sclerosis (TSC is a hamartoma syndrome in which renal and lung tumors cause the greatest morbidity. Loss of either TSC1 or TSC2 in TSC hamartomas leads to activation of mTORC1 and suppression of AKT. Recent studies indicate that inhibition of mTORC1 with RAD001 (everolimus leads to rebound activation of AKT, which could protect tumors from drug-induced cell death. Here we examine the potential benefit of inhibition of both mTOR and AKT signaling in a mouse model of TSC, using a dual pan class I PI3K/mTOR catalytic small molecule inhibitor NVP-BEZ235. Results Using ENU to enhance Tsc2+- kidney tumor development, both RAD001 (10 mg/kg PO 5 d/week and NVP-BEZ235 (45 mg/kg PO QD had equivalent effects in suppressing tumor development during a 4 week treatment period, with a 99% reduction in tumor cell mass. Marked reduction in activation of mTORC1, induction of cell cycle arrest, and absence of apoptotic cell death was seen in mice treated with either drug. However, when either was discontinued, there was prompt recovery of tumor growth, with extensive proliferation. Conclusion Both mTORC1 blockade alone and combined PI3K-mTOR blockade lead to suppression of tumor development but not tumor elimination in this TSC model.

  7. Do children with tuberous sclerosis complex have superior musical skill?--A unique tendency of musical responsiveness in children with TSC.

    Science.gov (United States)

    Matsuyama, Kumi; Ohsawa, Isao; Ogawa, Toyoaki

    2007-04-01

    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that manifests with symptoms that might include mental retardation, epilepsy, skin lesions, and hamartomas in the heart, brain, and kidneys. Anecdotal reports have characterized children with TSC as having high music responsiveness despite their developmental delay. This study is intended to investigate this putative musical skill of children with TSC and to elucidate the presence of non-delayed facets of their development. This study examined 11 children with TSC: 10 children with DSM-IV autism and 92 healthy children who participated as control subjects. Correlation was examined between results obtained using Non-Verbal MMRC, which is a validated musical responsiveness battery, and results of a scientifically accepted standardized pediatric developmental test: the New Edition of the Kyoto Scale of Psychological Development. Inter-rater reliability among the three raters was also assessed. The rhythm or melody score on the Non-Verbal MMRC and DA among children with TSC showed no significant correlation. In contrast, a significant correlation was found among normal children and those with autism. Moreover, the inter-rater reliability was good. The results demonstrate that children with TSC show high responsiveness to musical stimuli despite otherwise delayed development (e.g., language, cognition, motor skills). This report is the first stating that children with TSC have a unique tendency in terms of correlation between music and developmental age. These findings indicate a non-delayed area of TSC children's development and suggest the use of music as therapeutic intervention.

  8. 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.

  9. A case of acute fulminant multiple sclerosis treated with alemtuzumab.

    Science.gov (United States)

    Gobbin, F; Marangi, A; Orlandi, R; Richelli, S; Turatti, M; Calabrese, M; Forgione, A; Alessandrini, F; Benedetti, M D; Monaco, S; Gajofatto, A

    2017-10-01

    We describe the case of a woman who came to our attention for acute onset and very rapidly worsening left hemiplegia, vision loss and cognitive impairment. MRI, laboratory and clinical investigations were highly suggestive of an active inflammatory demyelinating disease. Following exclusion of other possible etiologies, a diagnosis of Marburg's variant multiple sclerosis was made. After repeated high-dose steroids and plasma-exchange, the patient was treated with a first course of alemtuzumab followed by improvement of the clinical and MRI picture. This is the first reported case of Marburg type multiple sclerosis treated with alemtuzumab. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. 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.)

  11. 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.)

  12. Bilateral giant renal angiomyolipoma associated with hepatic lipoma in a patient with tuberous sclerosis Angiomiolipomas renais gigantes bilateralmente associados a lipoma hepático em pacientes com esclerose tuberosa

    Directory of Open Access Journals (Sweden)

    Edison Daniel Schneider-Monteiro

    2003-01-01

    Full Text Available OBJECTIVE: To report a case of bilateral giant renal angiomyolipoma associated with tuberous sclerosis, with successful treatment, and to review the literature concerning angiomyolipoma treatment. CASE REPORT: Patient with tuberous sclerosis and angiomyolipoma diagnosed by ultrasonography during her pregnancy. At that time, the angiomyolipoma on the right side was 9 cm in diameter. Conservative management was selected during her pregnancy. The patient returned 7 years later, with a 24.7 x 19.2 x 10.7 cm tumor on the right side and another of 13 x 11.5 x 6.5 cm on the left side, in addition to multiple small angiomyolipomas. A nephron-sparing surgery with tumoral enucleation was performed on the right side, and after 3 months, the tumor on the left side was removed. Renal function in the post-operative period was preserved, and contrast medium progression was uniform and adequate in both kidneys. CONCLUSION: We conclude that an angiomyolipoma larger than 4 cm should be removed surgically, since they have a greater growth rate and pose a risk of hemorrhage. Resection of smaller tumors is safe and has decreased morbidity. Tumoral enucleation is an effective treatment method that preserves kidney function.OBJETIVO: Relatar um caso de angiomiolipoma gigante, bilateral, associado a esclerose tuberosa, tratado com sucesso e revisar a literatura concernente ao tratamento do angiomiolipoma. RELATO DO CASO: Paciente portadora de esclerose tuberosa, com diagnóstico de angiomiolipoma realizado por ultra-sonografia durante gestação. O tumor apresentava 9cm de diâmetro, à direita. Optou-se por conduta conservadora durante a gestação, e a paciente retornou somente 7 anos após, com tumor de 24,7 x 19,2 x 10,7 cm à direita e outro à esquerda de 13 x 11,5 x 6,5 cm, além de múltiplos angiomiolipomas pequenos. Realizada inicialmente ressecção tumoral à direita, por enucleação, com preservação do parênquima renal, e 3 meses após à esquerda. A

  13. Temporomandibular joint disorder in systemic sclerosis: a case report

    Science.gov (United States)

    Chebbi, Raja; Khalifa, Hanen Ben; Dhidah, Monia

    2016-01-01

    Systemic sclerosis have several effects on the orofacial region such as widening of the periodontal ligament space, xerostomia and bone resorption of the mandible. We report a case of systemic sclerosis with temporomandibular joint involvement in a 45-year-old female patient accompanied by severe limited mouth opening and pain in the right and left preauricular regions and tenderness in masseter muscles with a morning stiffness of jaws.Magnetic resonance imaging showed a resorption of mandibular condylar process, with disk and joint abnormalities. PMID:28292126

  14. Systemic sclerosis presenting as CREST syndrome: A case report ...

    African Journals Online (AJOL)

    Case report. A 31 years old female patient from senafe with remote history of systemic sclerosis and recurrent hospital admissions presented to the ED of Orotta hospital with shortness of breath and altered mental status. She had generalized body weakness, and dry cough associated with chest pain. She also complained.

  15. Systemic sclerosis presenting as CREST syndrome: A case report ...

    African Journals Online (AJOL)

    Systemic sclerosis (SSc) is a chronic multisystem disorder of unknown etiology, characterized by diffuse fibrosis; degenerative changes; and vascular abnormalities in the skin (scleroderma), articular structures, and internal organs especially the esophagus, GI tract, lung, heart, and kidney. We report the case of a 31 years ...

  16. Two Cases Of Multiple Sclerosis Accompanying Psychiatric Symptoms

    Directory of Open Access Journals (Sweden)

    Ayşegül Şengel

    2007-10-01

    Full Text Available Scientific bacground: It has been reported that; Multiple Sclerosis (MS may be presented with many psychiatric symptoms such as anxiety, depression, mania and psychosis. MS cases, presented with psychiatric symptoms were also reported. Cases: Two MS cases, diagnosed as psychotic and bipolar disorder respectively, were reported in this paper. Both of the cases were responded to the steroid treatment, and neurological and psychiatric examinations were found to be normal after one month. CONCLUSION: MS cases might be presented with psychiatric complaints and symptoms except neurological ones. We conclude that; psychiatric evaluation as well as the neurological evaluation is important in the MS cases presented with psychiatric symptoms

  17. 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.

  18. A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex.

    Science.gov (United States)

    Trickett, J; Heald, M; Oliver, C; Richards, C

    2018-03-01

    Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers. The modified version of Simonds and Parraga's sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2-15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47). Associations between sleep disturbance and age, obesity, health conditions and overactivity/impulsivity were explored for each neurodevelopmental disorder group. Children with SMS displayed severe night waking (81%) and early morning waking (73%). In contrast, children with ASD experienced difficulties with sleep onset (30%) and sleep maintenance (43%). Fewer children with ASD (43%) and AS (46%) experienced severe night waking compared to children with SMS (both p sleep-disordered breathing scores were identified for children with SMS (p Sleep disturbance in children with AS and TSC was associated with poorer health. Children experiencing symptoms indicative of gastro-oesophageal reflux had significantly higher sleep-disordered breathing scores in the AS, SMS and ASD groups (all p sleep disturbance were found for certain groups. These data reveal syndrome-specific profiles of sleep disturbance. The divergent associations

  19. Amyotrophic lateral sclerosis – a motor neuron disease. Case report

    Directory of Open Access Journals (Sweden)

    Maja Rubinowicz-Zasada

    2015-03-01

    Full Text Available Amyotrophic lateral sclerosis, also known as Charcot’s disease and motor neuron disease, is a progressive neurodegenerative disease that causes muscle weakness, paralysis, and ultimately, respiratory failure. The aetiology and the pathogenesis of the syndrome remain unknown. Most people live 2–5 years after their first signs of the disease. There is no cure or effective treatment. We present a case of a female patient affected by progressing Charcot’s disease. On the Amyotrophic Lateral Sclerosis Functional Rating Scale – Revised (ALSFRS-R, the patient obtained 21 points. Atrophy and muscle spasm were very extended. Electromyography revealed features of coexisting denervation and reinnervation in the examined muscles. A growing number of Charcot’s disease cases require multidirectional actions to meet patient’s physical, emotional, and nutritional needs. Amyotrophic lateral sclerosis is an incurable disease. However, it is possible to relieve its symptoms by applying systematic physical rehabilitation.

  20. Modeling Phenotypes of Tuberous Scerosis in the Mouse

    National Research Council Canada - National Science Library

    Shipley, James M

    2007-01-01

    The overall goal of this project is to generate a mouse model of the smooth muscle-related facets of tuberous sclerosis, specifically in an attempt to model the lung phenotype seen in a subset of TS...

  1. Association of systemic sclerosis and psoriatic arthritis: a case report

    Directory of Open Access Journals (Sweden)

    A. Musio

    2011-09-01

    Full Text Available The association of Systemic Sclerosis (SSc and Psoriatic Arthritis (PsA is unfrequent; only few cases are reported in literature. We describe a case of a patient with SSc following the onset of PsA. The disease begun with tenosynovitis, polyarthritis in association with psoriasis. After two years, Raynaud’s phenomenon and sclerodactyly appeared, and, later, pulmonary interstizial fibrosis and esophageal dysfunction. The existence of a common pathogenesis of the two diseases, SSc and PsA, is discussed.

  2. Tuberous Sclerosis Complex National Database

    Science.gov (United States)

    2006-10-01

    Maternal infection Maternal seizures Maternal substance abuse Premature rupture of membranes Premature birth Other (list...Abnormal (check all that apply): Obstructive sleep apnea Terminal insomnia Central sleep apnea Findings suggestive of narcolepsy...infection Maternal seizures Maternal substance abuse Premature rupture of membranes Premature birth Other (list

  3. Tuberous Sclerosis Complex National Database

    Science.gov (United States)

    2005-10-01

    Hydrocephalus : LIYes LiNo LlUnknown (If yes, complete the section found under the Neurology heading) List details of signs, symptoms and treatments...in 2003 ("Ahmad’s Kite" and "A New School in the Village: Leyla’s Gift"), which are bilingual in English and Dari. 8000 copies were distributed to

  4. Tuberous sclerosis Anaesthetic considerations | Bosenberg ...

    African Journals Online (AJOL)

    Southern African Journal of Anaesthesia and Analgesia. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 9, No 2 (2003) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected ...

  5. Morpho-anatomical characterization of Tuber macrosporum/Corylus avellana mycorrhizas from cultivated seedlings: Case report

    Directory of Open Access Journals (Sweden)

    Stanojković Jelena N.

    2017-01-01

    Full Text Available This study investigated the presence of mycorrhizae on seedlings from part of ten-year-old truffles plantation (about 3,000 m2 located in Eastern Serbia. This study is observation of the presence of ectomycorrhizal fungus from genus Tuber during its symbiotic stage on the roots of Corylus avellana L. Ten root samples were collected (randomly and observed macroscopically and microscopically analyzed. There were changes in morphology and anatomy of the infected roots of C. avellana. Mantle was clearly observed to cover the roots and the mycelia formed the Harting net. Among arbitrary selected seedlings, there were found mature fruiting bodies on the surface of the soil. The truffles, identified as Tuber macrosporum Vittad, were found in the immediate vicinity of the hazelnut trees. There has been no previous information of mycorrhizae Tuber macrosporum/Corylus avellana on artificially created truffles plantation in Serbia. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. 173032 and Grant no. 173015

  6. Anesthetic management of a patient with multiple sclerosis - case report

    Directory of Open Access Journals (Sweden)

    Eduardo Barbin Zuccolotto

    Full Text Available Abstract Background and objectives: Multiple sclerosis is a demyelinating disease of the brain and spinal cord, characterized by muscle weakness, cognitive dysfunction, memory loss, and personality disorders. Factors that promote disease exacerbation are stress, physical trauma, infection, surgery, and hyperthermia. The objective is to describe the anesthetic management of a case referred to urological surgery. Case report: A female patient, 44 years of age, with multiple sclerosis, diagnosed with nephrolithiasis, referred for endoscopic ureterolythotripsy. Balanced general anesthesia was chosen, with midazolam, propofol and remifentanil target-controlled infusion; sevoflurane via laryngeal mask airway; and spontaneous ventilation. Because the patient had respiratory difficulty presenting with chest wall rigidity, it was decided to discontinue the infusion of remifentanil. There was no other complication or exacerbation of disease postoperatively. Conclusion: The use of neuromuscular blockers (depolarizing and non-depolarizing is a problem in these patients. As there was no need for muscle relaxation in this case, muscle relaxants were omitted. We conclude that the combination of propofol and sevoflurane was satisfactory, not resulting in hemodynamic instability or disease exacerbation.

  7. A Case of Multiple Sclerosis and Celiac Disease

    Directory of Open Access Journals (Sweden)

    H. Z. Batur-Caglayan

    2013-01-01

    Full Text Available Objectives. Multiple sclerosis (MS is an inflammatory autoimmune disorder of the central nervous system (CNS. Since a correlation between gluten intake and incidence of MS had been reported, the relationship of antigliadin antibodies and MS was debated. Case Report. We report the case of a 45-year-old female MS patient who is under interferon treatment. After seven years of monitoring, during her routine gastroenterological assessment, she was diagnosed with celiac disease. Conclusion. Beside the neurological manifestations that have been demonstrated in about 10% of celiac disease (CD patients, white-matter abnormalities in brain MRI are uncommon and controversial. But in the literature, MS seems to be associated with CD as in our patient. We suggest that MS patients with gastroenterological complaints should undergo an assessment for CD.

  8. Case-control study of amyotrophic lateral sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Deapen, D.M.; Henderson, B.E.

    1986-05-01

    The authors conducted a study of 518 amyotrophic lateral sclerosis patients identified between 1977 and 1979 and 518 controls to investigate putative risk factors for this disease. Occupations at risk of electrical exposure were reported more often by patients (odds ratio (OR) = 3.8, 95% confidence interval (CI) = 1.4-13.0) as were electrical shocks producing unconsciousness (OR = 2.8, 95% CI = 1.0-9.9). Although an overall excess of physical trauma associated with unconsciousness was observed in the amyotrophic lateral sclerosis patients (OR = 1.6, 95% CI = 1.0-2.4), the effect was inversely associated with duration of the unconscious episodes, suggesting an effect of recall bias. Only slight differences were found for surgical traumata to the nervous system. Parkinsonism was reported more often among first degree relatives of cases (OR = 2.7, 95% CI = 1.1-7.6). The frequencies of prior poliomyelitis or other central nervous system diseases were similar for patients and controls. Occupational exposure to selected toxic substances was similar for patients and controls except for the manufacture of plastics (OR = 3.7, 95% CI = 1.0-20.5), although few details of these exposures were provided. No differences in occupations with exposure to animal skins or hides were observed.

  9. Coexistence of diabetes mellitus type 1 with diffuse systemic sclerosis - case report and literature review.

    Science.gov (United States)

    Wielosz, Ewa; Kurowska, Maria; Suszek, Dorota; Majdan, Maria

    2017-01-01

    Diabetic sclerodactyly is a frequently recognized skin finding that may occur in patients with diabetes mellitus but coexistence of diabetes and systemic sclerosis is rare. We describe a case of coexistence of type 1 diabetes mellitus and systemic sclerosis in 42-year-old man with the history of Raynaud's phenomenon, progressive diffuse hardening of the skin and sclerodactyly, slowly worsening with time. The medical history included type 1 diabetes since childhood with microvascular complications. The patient presented a typical capillaroscopic scleroderma-like pattern, antinuclear antibodies and sclerotic lesions in gastrointestinal system. Summing up, our case represents the rare coexistence of autoimmune diseases like diabetes mellitus type 1 and systemic sclerosis.

  10. COL5A1: Fine genetic mapping, intron/exon organization, and exclusion as candidate gene in families with tuberous sclerosis complex 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II

    Energy Technology Data Exchange (ETDEWEB)

    Greenspan, D.S. [Univ. of Wisconsin, Madison, WI (United States); Papenberg, K.A.; Marchuk, D.A. [Duke Univ., Durham, NC (United States)] [and others

    1994-09-01

    Type V collagen is the only fibrillar collagen which has yet to be implicated in the pathogenesis of genetic diseases in humans or mice. To begin examining the possible role of type V collagen in genetic disease, we have previously mapped COL5A1, the gene for the {alpha}1 chain of type V collagen, to 9q23.2{r_arrow}q34.3 and described two restriction site polymorphisms which allowed us to exclude COL5A1 as candidate gene for nail-patella syndrome. We have now used these polymorphisms to exclude COL5A1 as candidate gene for tuberous sclerosis complex 1 and Ehlers-Danlos syndrome type II. In addition, we describe a CA repeat, with observed heterozygosity of about 0.5, in a COL5A1 intron, which has allowed us to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia and to place COL5A1 on the CEPH family genetic map between markers D9S66 and D9S67. We have also determined the entire intron/exon organization of COL5A1, which will facilitate characterization of mutations in genetic diseases with which COL5A1 may be linked in future studies.

  11. COL5A1: Genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II

    Energy Technology Data Exchange (ETDEWEB)

    Greenspan, D.S. [Univ. of Wisconsin Medical School, Madison, WI (United States); Northrup, H.; Au, K.S. [Univ. of Texas Medical School, Houston, TX (United States)] [and others

    1995-02-10

    COL5A1, the gene for the {alpha}1 chain of type V collagen, has been considered a candidate gene for certain diseases based on chromosomal location and/or disease phenotype. We have employed 3{prime}-untranslated region RFLPs to exclude COL5A1 as a candidate gene in families with tuberous sclerosis 1, Ehlers-Danlos syndrome type H, and nail-patella syndrome. In addition, we describe a polymorphic simple sequence repeat (SSR) within a COL5A1 intron. This SSR is used to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) and to add COL5A1 to the existing map of {open_quotes}index{close_quotes} markers of chromosome 9 by evaluation of the COL5A1 locus on the CEPH 40-family reference pedigree set. This genetic mapping places COL5A1 between markers D9S66 and D9S67. 14 refs., 1 fig., 2 tabs.

  12. 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.

  13. Financial cost of amyotrophic lateral sclerosis: a case study.

    Science.gov (United States)

    Obermann, M; Lyon, M

    2015-03-01

    There are only a few recently published reports of the cost of amyotrophic lateral sclerosis (ALS) care in the United States. Our objectives were to: 1) report annual and disease-duration costs; 2) provide costs related to specific care and services; 3) present costs by payor; and 4) identify strategies and resources that can be offered to patients to assist with the financial burden of ALS. Over a 10-year period (2001-2010), all expenses related to the cost of care for an individual patient were collected concurrently and then analyzed in 2012. Results showed that total disease-duration costs were $1,433,992 (85% paid by insurance, 9% paid by family, 6% paid by charities). The highest costs were for in-home caregivers ($669,150), ventilation ($212,430) and hospital care ($114,558). In conclusion, this case study illustrates costs of care for ALS as a burden for patients that may impact treatment decisions. Charity organizations and insurance case-managers provide services to patients that can help reduce this burden. Costs for specific services as well as resources identified by this study offer physicians and other healthcare providers data-based cost of care information and strategies to share with their patients.

  14. Rhabdomyolysis following interferon-beta treatment in a patient with multiple sclerosis - A case report.

    Science.gov (United States)

    Dalbjerg, Sara Maria; Tsakiri, Anna; Frederiksen, Jette Lautrup

    2016-07-01

    Multiple sclerosis is an inflammatory disease of the central nervous system for which there is currently no cure. Interferon-beta-1-alpha is worldwide one of the most widely used treatments in multiple sclerosis. To our knowledge there is one previous reported case of rhabdomyolysis associated with Interferon-beta treatment. We describe a 30 year old man with relapsing remitting multiple sclerosis who developed rhabdomyolysis and increased creatine kinase following Interferon-beta-1-alpha therapy. After the medication was discontinued, the patient rapidly improved. Clinicians should be aware of the possibility of rhabdomyolysis occurring during Interferon-beta-1-alpha therapy. In cases where patients complain of severe myalgia, and in particular if weakness is reported, creatine kinase activity should be measured to prevent irreversible rhabdomyolysis during Interferon-beta-1-alpha therapy in patients with multiple sclerosis. Copyright © 2016 Elsevier B.V. All rights reserved.

  15. 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...

  16. 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.

  17. [Systemic sclerosis and occupational exposures: About a case in a driller-powderman].

    Science.gov (United States)

    Boulanger, M; Bienvenu, B; Marquignon, M-F; Letourneux, M; Clin, B

    2015-08-01

    Erasmus' syndrome is the association between systemic sclerosis and silica exposure. We report a case of this syndrome in a driller-powderman exposed to silica and nitro compounds contained in explosives. Physiopathology and etiologies of systemic sclerosis are still not well known. However, nitric oxide, a product of nitro compounds metabolism, is involved in the physiopathology of the disease: it seems thus licit to wonder about the consequences of an uncontrolled occupational exposure to nitric oxide on the vascular function, already damaged by systemic sclerosis. To a wider extent, our report highlights the importance of a comprehensive and detailed collection of occupational exposures for patients diagnosed with systemic sclerosis. Copyright © 2014 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  18. mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the Down-Regulation of Autophagy.

    Directory of Open Access Journals (Sweden)

    Manabu Taneike

    Full Text Available Mammalian target of rapamycin complex 1 (mTORC1 is a key regulator of cell growth, proliferation and metabolism. mTORC1 regulates protein synthesis positively and autophagy negatively. Autophagy is a major system to manage bulk degradation and recycling of cytoplasmic components and organelles. Tuberous sclerosis complex (TSC 1 and 2 form a heterodimeric complex and inactivate Ras homolog enriched in brain, resulting in inhibition of mTORC1. Here, we investigated the effects of hyperactivation of mTORC1 on cardiac function and structure using cardiac-specific TSC2-deficient (TSC2-/- mice. TSC2-/- mice were born normally at the expected Mendelian ratio. However, the median life span of TSC2-/- mice was approximately 10 months and significantly shorter than that of control mice. TSC2-/- mice showed cardiac dysfunction and cardiomyocyte hypertrophy without considerable fibrosis, cell infiltration or apoptotic cardiomyocyte death. Ultrastructural analysis of TSC2-/- hearts revealed misalignment, aggregation and a decrease in the size and an increase in the number of mitochondria, but the mitochondrial function was maintained. Autophagic flux was inhibited, while the phosphorylation level of S6 or eukaryotic initiation factor 4E -binding protein 1, downstream of mTORC1, was increased. The upregulation of autophagic flux by trehalose treatment attenuated the cardiac phenotypes such as cardiac dysfunction and structural abnormalities of mitochondria in TSC2-/- hearts. The results suggest that autophagy via the TSC2-mTORC1 signaling pathway plays an important role in maintenance of cardiac function and mitochondrial quantity and size in the heart and could be a therapeutic target to maintain mitochondrial homeostasis in failing hearts.

  19. Downregulation of PERK activity and eIF2α serine 51 phosphorylation by mTOR complex 1 elicits pro-oxidant and pro-death effects in tuberous sclerosis-deficient cells.

    Science.gov (United States)

    Krishnamoorthy, Jothilatha; Tenkerian, Clara; Gupta, Jyotsana; Ghaddar, Nour; Wang, Shuo; Darini, Cedric; Staschke, Kirk A; Ghosh, Abhishek; Gandin, Valentina; Topisirovic, Ivan; Kristof, Arnold S; Hatzoglou, Maria; Simos, George; Koromilas, Antonis E

    2018-02-15

    Oxidative stress determines cell fate through several mechanisms, among which regulation of mRNA translation by the phosphorylation of the alpha (α) subunit of the translation initiation factor eIF2α at serine 51 (eIF2αP) plays a prominent role. Increased eIF2αP can contribute to tumor progression as well as tumor suppression. While eIF2αP is increased in most cells to promote survival and adaptation to different forms of stress, we demonstrate that eIF2αP is reduced in tuberous sclerosis complex 2 (TSC2)-deficient cells subjected to oxidative insults. Decreased eIF2αP in TSC2-deficient cells depends on reactive oxygen species (ROS) production and is associated with a reduced activity of the endoplasmic reticulum (ER)-resident kinase PERK owing to the hyper-activation of the mammalian target of rapamycin complex 1 (mTORC1). Downregulation of PERK activity and eIF2αP is accompanied by increased ROS production and enhanced susceptibility of TSC2-deficient cells to extrinsic pro-oxidant stress. The decreased levels of eIF2αP delay tumor formation of TSC2-deficient cells in immune deficient mice, an effect that is significantly alleviated in mice subjected to an anti-oxidant diet. Our findings reveal a previously unidentified connection between mTORC1 and eIF2αP in TSC2-deficient cells with potential implications in tumor suppression in response to oxidative insults.

  20. A CASE STUDY OF BRAIN VOLUME REDUCTION IN MULTIPLE SCLEROSIS

    Directory of Open Access Journals (Sweden)

    Ivan N. Dimitrov

    2013-07-01

    Full Text Available The development of sophisticated magnetic resonance imaging techniques and software for medical imaging processing and analysis has led to a significant progress in multiple sclerosis research and clinical care. The measurement of brain volumes provides a quantitative representation of damage, thus facilitating the objective follow-up process. The parameters obtained, though not being used routinely in clinical practice, are more and more often applied in clinical studies. The amount of whole brain and regional atrophy, estimated from serial scans, is considered important not only for disease progression, but also for cognitive dysfunction which is common in multiple sclerosis. In this paper we describe a volumetric study of two magnetic resonance scans of a patient with relapsing-remitting multiple sclerosis, performed 16 months one after the other, and analyzed using FSL SIENA software. Analysis demonstrated brain volume reduction of 1.7% between the two scans. We discuss the advantages of the method and its possible clinical applications.

  1. Multiple Sclerosis in a Nigerian Alcoholic Male: A Case Report from ...

    African Journals Online (AJOL)

    Background: Multiple sclerosis is a rare neurological disorder in black Africans. In Nigeria it had been difficult to confirm suspected cases due to the paucity of diagnostic facilities. The availability of magnetic resonance imaging has enabled an increased confidence in making the diagnosis. Method: This is a case report of a ...

  2. 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.

  3. A Case with Systemic Sclerosis Following Exposure To Silica and Vibration

    Directory of Open Access Journals (Sweden)

    Aslı Ürkmez

    2012-06-01

    Full Text Available Systemic sclerosis is an autoimmune disease characterized by inflammatory, vascular and sclerotic changes in the internal organs. Although the etiology is not known with certainty; silica dust, which is one of the environmental risk factors, can lead to scleroderma by some immunological changes. In this case, a mine worker, who worked in a mercury mine during a 15-year period, developed systemic sclerosis due to exposure to chronic silica and vibration, is presented. (Turk J Dermatol 2012; 6: 45-7

  4. Vigabarina no tratamento da epilepsia de difícil controle em pacientes com síndrome de West e esclerose tuberosa Vigabatrin in the treatment of epilepsy in patients with West syndrome and tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Newra Tellechea Rotta

    2003-12-01

    Full Text Available OBJETIVO: é relatar a eficácia da vigabatrina no controle das convulsões, bem como as alterações eletrencefalográficas em crianças com esclerose tuberosa e síndrome de West. MÉTODO: Estudo retrospectivo, com dados clínicos, de neuroimagem e de eletrencefalograma. RESULTADOS: Sete pacientes foram acompanhados e o tempo médio de seguimento foi 10 anos. Dos pacientes, quatro eram do sexo feminino e todos eram de cor branca. A média de idade de início das convulsões foi 3,4 meses. Todos usaram associações de vários anticonvulsivantes; no mínimo duas drogas por esquema terapêutico, e cada paciente utilizou pelo menos dois esquemas diferentes. O uso de vigabatrina como monoterapia ou em associação iniciou em média aos 7 anos de idade ou 4 anos após início dos sintomas. Cinco dos sete pacientes que iniciaram vigabatrina ficaram sem crise. CONCLUSÃO: Vigabatrina mostrou-se eficaz no controle das crises, levando a um melhor prognóstico.PURPOSE: To report the efficacy of vigabatrin in seizures control, as well as the electroencephalographic abnormalities in children with tuberous sclerosis and West syndrome. METHOD: Retrospective study, with clinical, neuroimaging, and electroencephalographic data. RESULTS: Seven patients were followed, and the median time of follow-up was 10 years. Four of them were females and all were white. The mean age of seizures onset was 3.4 months. All patients used antiepileptic drugs associations, at least 2 drugs each therapeutic scheme, each one of the patients have used at least two different schemes. Vigabatrin as monotherapy or adjuvant was started in a mean age of seven years or 4 years after the onset of symptons. Five from seven patients on vigabatrin became seizure free. CONCLUSION: Vigabatrin was efficient in seizures control, leading to a better prognosis.

  5. Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex Espectroscopia de prótons por RM da região do forame de Monro em pacientes com complexo esclerose tuberosa

    Directory of Open Access Journals (Sweden)

    Arnolfo de Carvalho-Neto

    2008-06-01

    Full Text Available PURPOSE: To evaluate with 1H-magnetic resonance spectroscopy (MRS the metabolites rations of the foramen of Monro's region in patients with tuberous sclerosis complex (TSC. METHOD: Twelve patients with TSC and an age and gender-matched control group underwent MR imaging at a 1.5T scanner, and 1H-MRS at the foramen of Monro level with a multivoxel acquisition. Similar volumes of interest were selected in each side of the foramen of Monro and in the basal ganglia (lentiform nuclei. The obtained N-acetylaspartate (NAA, creatine (Cr and choline (Cho peak amplitude values and ratios were studied. The statistical analysis was performed and p0.05. CONCLUSION: The NAA/Cr and Cho/Cr ratios near to the foramen of Monro and basal ganglia of TSC patients are similar to the rations obtained in the control group.OBJETIVO: Avaliar através de espectroscopia de prótons as relações dos metabólitos da região do forame de Monro em pacientes com complexo esclerose tuberosa (CET. MÉTODO: Doze pacientes com CET e um grupo controle pareado por sexo e idade realizaram RM em aparelho de 1,5T, e a espectroscopia de prótons foi obtida ao nível do forame de Monro com aquisição multi-voxel. Volumes de interesse similares foram posicionados em cada lado do forame de Monro e nos gânglios da base (núcleos lentiformes. Os valores das relações e amplitudes de pico do N-acetilaspartato (NAA, creatina (Cr e colina (Cho foram estudados. A análise estatística foi realizada e valores de p0,05. CONCLUSÃO: As relações NAA/Cr e Cho/Cr na região do forame de Monro e nos gânglios da base de pacientes com CET são semelhantes àquelas obtidas no grupo controle.

  6. Multiple sclerosis and exposure to house pets during childhood and adolescence : a case-control study

    NARCIS (Netherlands)

    De Keyser, J; Zwanikken, C

    1997-01-01

    Multiple sclerosis (MS) might be triggered by an infectious agent early in life. In a case-control study, we compared exposure to household pets for the age periods 0-5, 6-10, 11-15 and 16-20 years in 100 patients with MS and 100 controls. Exposure to household dogs between the ages of 0-10 years

  7. Case Report: Multiple Sclerosis in a Pregnant Afro-Caribbean Woman

    African Journals Online (AJOL)

    Case Report: Multiple Sclerosis in a Pregnant Afro-Caribbean Woman. Abiola I Balogun. Abstract. No Abstract Available Archives of Ibadan Medicine Vol.1(1) 2000: 21-22. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · http://dx.doi.org/10.4314/aim.v1i1.34534.

  8. 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.

  9. 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.

  10. RARE CASE OF SYSTEMIC SCLEROSIS IN A CHILD AGED 4 MONTHS

    Directory of Open Access Journals (Sweden)

    S.S. Postnikov

    2007-01-01

    Full Text Available The article provides a clinical and morphologic description of a rare case of systemic sclerosis along with the beginning of the diseases during the infancy. In the clinical picture, the researchers identified occurrences of the systemic vasculitis: abundant cyanotic and red spotty rash with atrophy in the middle, thick edemas of legs and ankles, necrosis of the nail bone of the left little finger, banti's syndrome. In the histological picture, most characteristic peculiarities were: 3 stages of systemic sclerosis process development — inflammation, hardening and atrophy; disorganization of collagenous corium fibers; nidi of calcification along the borderline of corium and hypoderm; multiple ulcers of small and large intestines, perforation of one of which caused peritonitis and fatal outcome of the patient.Key words: infants, vasculitis, systemic sclerosis.

  11. Case of multiple sclerosis with multi-ring-like and butterfly-like enhancement on computerized tomography

    Energy Technology Data Exchange (ETDEWEB)

    Morimoto, Takehiko; Nagao, Hideo; Sano, Nozomi; Habara, Shinji; Takahashi, Mitsugi; Matsuda, Hiroshi; Beppu, Keiko; Shoda, Takaaki

    1985-01-01

    We report a case of multiple sclerosis in which CT showed multiple ring-like enhancement and butterfly-like distribution of a low density area with marginal enhancement. The latter finding is found in other demyelinating disorders but is less common in tumors or abscesses. Therefore, it seems to have some diagnostic value in multiple sclerosis. (author).

  12. A rare case of sporadic multiple trichoepitheliomas | Sanaa | Pan ...

    African Journals Online (AJOL)

    No other contributory medical history or similar cases in the family were reported by the patient. With the above features a clinical differential diagnosis of multiple basal cell carcinoma (BCC), multiples trichoepitheliomas or Bourneville's tuberous sclerosis was considered. Histopathological examination of the lesions was in ...

  13. [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.

  14. Peripheral (Seventh Nerve Palsy and Multiple Sclerosis: A Diagnostic Dilemma - A Case Report

    Directory of Open Access Journals (Sweden)

    Christian Saleh

    2016-01-01

    Full Text Available During the last decades, only a few cases on the association between peripheral demyelinating diseases and multiple sclerosis (MS have been reported. We describe the case of a young man who was initially diagnosed with Bell's palsy, and only after performing a brain MRI was the diagnosis of MS made. We review the literature and discuss some pitfalls which may lead to missing the diagnosis of MS.

  15. Hippocampal Sclerosis of Aging Can Be Segmental: Two Cases and Review of the Literature.

    Science.gov (United States)

    Ighodaro, Eseosa T; Jicha, Gregory A; Schmitt, Frederick A; Neltner, Janna H; Abner, Erin L; Kryscio, Richard J; Smith, Charles D; Duplessis, Taylor; Anderson, Sonya; Patel, Ela; Bachstetter, Adam; Van Eldik, Linda J; Nelson, Peter T

    2015-07-01

    Hippocampal sclerosis of aging (HS-Aging) is a neurodegenerative disease that mimics Alzheimer disease (AD) clinically and has a prevalence rivaling AD in advanced age. Whereas clinical biomarkers are not yet optimized, HS-Aging has distinctive pathological features that distinguish it from other diseases with "hippocampal sclerosis" pathology, such as epilepsy, cerebrovascular perturbations, and frontotemporal lobar degeneration. By definition, HS-Aging brains show neuronal cell loss and gliosis in the hippocampal formation out of proportion to AD-type pathology; it is strongly associated with aberrant TDP-43 pathology and arteriolosclerosis. Here, we describe 2 cases of "segmental" HS-Aging in which "sclerosis" in the hippocampus was evident only in a subset of brain sections by hematoxylin and eosin (H&E) stain. In these cases, TDP-43 pathology was more widespread on immunostained sections than the neuronal cell loss and gliosis seen in H&E stains. The 2 patients were cognitively intact at baseline and were tracked longitudinally over a decade using cognitive studies with at least 1 neuroimaging scan. We discuss the relevant HS-Aging literature, which indicates the need for a clearer consensus-based delineation of "hippocampal sclerosis" and TDP-43 pathologies in aged subjects.

  16. Multiple sclerosis with early childhood onset: a case report

    Directory of Open Access Journals (Sweden)

    Maria Isabel Campos Vergani

    1988-06-01

    Full Text Available A 2 year old boy was admitted owing to a subacute episode of ataxic gait and hearing deficit. Computerized tomography (CT was normal and cerebrospinal fluid (CSF analysis revealed gamma globul.ns level of 15.4% (normal 7 to 14%. There was spontaneous remission after 7 months. At 5 years of age the boy incurred a second episode with predominantly right apendicular ataxia and tonic gaze deviation to the right side. CT showed a low-density lesion in the white matter adjacent to the right frontal horn. Visual and auditory evoked potentials were abnormal. CSF revealed a mild increase in gamma globulins level of 14.5% with an abnormal T lymphocyte subsets study. The combination of visual, cerebellar, brain stem and paraventricular lesions with clear remissions and exacerbations, supported by CT, CSF and evoked potentials findings suggests the diagnosis of multiple sclerosis even at this early age.

  17. BALO’S CONCENTRIC SCLEROSIS: CLINICAL CASE ОF REMISSION

    Directory of Open Access Journals (Sweden)

    L. V. Lorina

    2017-01-01

    Full Text Available Objective. Case report of a rare form of multiple sclerosis, Balo’s concentric sclerosis (BCS.Materials and methods. 66 year old female patient L., admitted with complaints of gait disorder with tendency to fall towards the left side, left upper limb weakness and decreased memory. Neurological examination revealed left sided hemiparesis, and left sided positive Romberg’s test. Contrast brain magnetic resonance imaging (MRI was performed. Treatment was prescribed as well as dynamic follow up during the course of 1.5 years.Results. Based on complaints, clinical picture and MRI result, patient was diagnosed with an atypical form of multiple sclerosis, Balo’s concentric sclerosis. The main diagnostic method used confirm the diagnosis was contrast brain MRI: Non homogenous circular-form space occupying lesion with dimensions 3.7 × 3.4 × 3.5 cm was visualized in the supraventricular area of right parietal lobe with increased and decreased signals on T2 and T1 weighted images respectively. Following intravenous administration of contrast substance, an increased T1-WI signal is observed along the periphery of the described lesion in the right parietal lobe. MRI conclusion: brain demyelination disease with large foci in the right post-frontal lobe region, typical of Balo’s concentric sclerosis. Following the acute clinical state, cytostatic and immunomodulation therapy was prescribed. MRI dynamic observation revealed decrease in dimensions of the significantly enhanced concentric areas. Follow up demonstrated marked remission.Conclusion. This clinical case is of interest due to the rarity of this disease. The basis of diagnosis in our study was MRI investigation which allows for in vivo diagnosis of this pathology. These observations confirm the fact that timely use of modern methods of treatment can achieve not only stabilization of the patients’ state, but also positive clinical and MRI dynamics.

  18. CT scan findings in three cases of multiple sclerosis with homonymous hemianopsia

    International Nuclear Information System (INIS)

    Arikado, Takuji; Ariga, Hiroko; Kase, Manabu; Nagata, Renpei; Tashiro, Kunio

    1983-01-01

    Three cases of clinically definite multiple sclerosis manifested homonymous hemianopsia. A 35-year-old female, in whom right optic neuritis developed as the initial symptom, manifested right homonymous hemianopsia 4 months later followed by cerebral symptoms another 4 months later. A 25-year-old male developed sudden brain stem and cerebellar symptoms associated with right abducens palsy and right homonymous hemianopsia. In a 26-year-old female developed right homonymous hemianopsia 13 years after the first attack of recurrent optic neuritis. CT-scan in these three cases revealed the presence of a ''plaque'' located in the white matter of the left occipital lobe in cases 1 and 2 and in the left peririgone white matter in case 3 as the causative lesion for the right homonymous hemianopsia. These findings indicate that the optic radiation may be involved in multiple sclerosis resulting in homonymous hemianopsia. CT scan is of value in determining the location of the affected intracranial lesion in multiple sclerosis. (author)

  19. Complejo nódulo subependimario-astrocitoma subependimario gigantocelular en niños con esclerosis tuberosa Subependymal nodules-subependymal giant cell astrocytoma complex in children with tuberous sclerosis

    Directory of Open Access Journals (Sweden)

    Lucas Bongiorni

    2009-01-01

    Full Text Available El objetivo fue describir las características clínico imagenológicas de niños con esclerosis tuberosa que presentaron el complejo Nódulo Subependimario (NS-Astrocitoma Subependimario Gigantocelular(ASGC y analizar el comportamiento evolutivo de dicho "complejo" para detectar precozmente su crecimiento y evitar las complicaciones de la hipertensión endocraneana (HTE. Evaluamos 22 pacientes con diagnóstico anátomo patológico de ASGC. El diagnóstico del tumor se realizó a una media de 10.1 años. Pudimos observar la evolución de NS a ASGC; estos NS se ubicaron adyacentes al agujero de Monro y con el tiempo tuvieron un importante crecimiento con intensa captación de contraste e hidrocefalia. La aceleración en el crecimiento de estos NS y su "transformación" en ASGC se produjo a los 10 años de edad promedio, con un diámetro medio de 9 mm. Ningún NS alejado de los forámenes de Monro evolucionó a ASGC. Quince pacientes (68% fueron operados con síntomas de hipertensión endocraneana. La edad media de la cirugía fue 10.8 años. Seis pacientes presentaron déficit visual. En estos últimos, el diámetro medio mayor del tumor fue 31.5 mm, mayor que los 18.7 mm del grupo de pacientes que no presentó secuela visual. El seguimiento clínico imagenológico periódico de toda lesión subependimaria próxima a los agujeros de Monro, permitiría en etapa presintomática anticipar un tratamiento quirúrgico, que reduciría la incidencia de HTE. Estudios prospectivos podrían determinar si el complejo NS-ASGC corresponde a una misma entidad en distinta etapa evolutiva, o son dos lesiones con diferente potencial de crecimiento.The object of this paper is to describe the imaging and clinical characteristics of subependymal nodule (SN - subependymal giant cell astrocytoma (SGCA complex in tuberous sclerosis and analyze its evolution in order to attempt early detection and the prevention of intracranial hypertension. We evaluated 22 patients with

  20. Clipboard: Tuberous sclerosis complex: A Drosophila connection

    Indian Academy of Sciences (India)

    Author Affiliations. Arun Kumar1 S C Girimaji2. Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560 012, India; Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore 560 029, India ...

  1. Defining Translational Reprogramming in Tuberous Sclerosis Complex

    Science.gov (United States)

    2016-07-01

    pnas.68.2.390 [24] Fresno M, Jimenez A, Vazquez D. Inhibition of transla- tion in eukaryotic systems by harringtonine. Eur J Bio- chem 1977; 72:323-30...anti-METTL3 (Abnova H00056339-B01P, 1:1,000 WB, 1:600 IF); anti-METTL14 (sigma HPA038002, 1:1,000 WB, 1:600 IF); anti-WTAP (Santa Cruz sc-374280, 1

  2. Defining Translational Reprogramming in Tuberous Sclerosis Complex

    Science.gov (United States)

    2015-07-01

    misfolded or damaged proteins29 but also contributes to intracellular amino acid recycling during nutrient deprivation30. NATURE METHODS I VOL.12...independent translation. In this project, we aim to (1) Dissect the molecular l inkage between mTORC1 and protein homeostasis; (2) Define the role of...Dissect the molecular linkage between mTORC1 and protein homeostasis; (2) Define the role of mTORC1 in ribosome dynamics and translational re

  3. ACTH gel in the treatment of multiple sclerosis exacerbation: a case study

    Directory of Open Access Journals (Sweden)

    Napoli S

    2015-01-01

    Full Text Available Salvatore Napoli Neuro Institute of New England, Foxborough, MA, USA Abstract: Patients may refuse, be unable to use, or show nonresponse to conventional steroid treatment of multiple sclerosis (MS exacerbation. Adrenocorticotropic hormone (ACTH, one of several melanocortin peptides with mechanisms of action beyond steroidogenesis, should be reconsidered in the treatment of MS exacerbations. The current case report presents the treatment outcome of a patient with new-onset MS exacerbation treated with ACTH following lack of response to steroid treatment. A 49-year-old female presented with slurred speech, blurry vision, off-balance feeling, and possible left-sided mild internuclear ophthalmoplegia. Magnetic resonance imaging showed findings typical for primary demyelinating disease. Despite 5-day high-dose intravenous methylprednisolone treatment, the patient’s symptoms worsened, including right-sided facial weakness, gait instability that required unilateral support, drooling, and new dorsal pontine white matter lesion on magnetic resonance imaging. Treatment with ACTH gel 80 U for 5 consecutive days resulted in patient functional improvement, including vision and gait. ACTH gel treatment stabilized disease progression, allowing the initiation of long-term disease-modifying treatment with monthly intravenous natalizumab. Effects of melanocortin signaling on immune function and inflammation beyond steroidogenesis provide a basis for understanding the clinical experience with ACTH gel treatment in patients with MS exacerbation. Keywords: multiple sclerosis exacerbation, relapsing-remitting multiple sclerosis, treatment, adrenocorticotropic hormone gel

  4. Awake fi beroptic intubation of a patient with amyotrophic lateral sclerosis: case report

    Directory of Open Access Journals (Sweden)

    Elif Bakı

    2012-12-01

    Full Text Available Amyotrophic Lateral Sclerosis is a rapidly progressive disease from the fi fth to sixth decades of life causing degeneration and death of the upper and lower motor neurons and no effective treatment. The diagnosis isdependent on the clinical presentation and consistent electrodiagnostic studies. Progressive denervation affects the muscles, causing muscular weakness and atrophy, when the ventilation muscles are affected deathdue to respiratory failure occurs within a few years. We present the case of a 54 years old, 180 cm height and 94 kg weight male patient with amyotrophic lateral sclerosis who underwent surgical treatment of thyroidcancer. Fiberoptic intubation was orally performed providing spontaneus breathing. Propofol was applied after passing vocal cords. Anesthesia was maintained with sevofl orane (%2 and a mixture of oxygen and airunder volume controlled ventilation. Rocuronium was used 20 mg at the beginning of the surgery. At the end of surgery, he wasn’t extubated and transferred to anesthesia intensive care unit. He was extubated after tenhours and he was awaked perfectly. The patient was discharged from intensive care unit after 24 hours and from hospital after ten days. We reported that amyotrophic lateral sclerosis patient with limited mouth opening who underwent thyroid surgery, using awake intubation.

  5. Multiple sclerosis and dental amalgam: case-control study in Ferrara, Italy.

    Science.gov (United States)

    Casetta, I; Invernizzi, M; Granieri, E

    2001-05-01

    Dental amalgam fillings containing mercury have been suggested as a possible risk factor for multiple sclerosis (MS). In the context of a wider program of investigation into environmental risk factors and MS, we conducted a case-control comparison to investigate the alleged association between MS, dental caries, and amalgam fillings. We included 132 MS patients with onset during the last 16 years and 423 controls, matched to cases for sex, age and residence. Data were collected by a personal interview conducted by trained doctors. Cases and controls gave informed consent. Although we report a trend toward a higher number of dental fillings in cases than controls, odds ratios for subjects with exposures of different duration and with different numbers of amalgam fillings were not statistically significant. This case-control study failed to demonstrate an association between either the number of dental amalgam fillings or the duration of exposure to mercury amalgam and MS. Copyright 2001 S. Karger AG, Basel

  6. 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.

  7. First-episode psychosis as the initial presentation of multiple sclerosis: a case report

    Directory of Open Access Journals (Sweden)

    Enderami A

    2018-04-01

    Full Text Available Athena Enderami,1 Rose Fouladi,2 Seyed Hamzeh Hosseini3 1Department of Psychiatry, School of Medicine, Mazandaran University of Medical Sciences, Mazandaran, Sari, Iran; 2Sport Injuries and Corrective Exercise, University of Mazandaran, Mazandaran, Babolsar, Iran; 3Psychiatry and Behavioral Sciences Research Center, Addiction Institute, Mazandaran University of Medical Sciences, Sari, Iran Background: Multiple sclerosis (MS is an inflammatory disease that affects the central nervous system (CNS. MS with episode of psychosis is a rare entity, and to the best of our knowledge, no case has been reported from Iran till date. Case presentation: We report a case of MS with first-episode psychosis in a 27-year-old single man with no history of psychiatric disorder or drug abuse. The patient developed neurological symptoms after 3 months and was finally diagnosed as a case of MS. His symptoms started with behavioral dysfunctions and progressively resulted in depression. Subsequently, treatment was performed with citalopram 20 mg daily, risperidone 2 mg three times a day, and biperiden 2 mg three times a day; however, no improvements in the symptoms were observed. T2-weighted magnetic resonance imaging has demonstrated periventricular and white matter multiple sclerotic plugs with lesions. Eventually, MS was diagnosed after the appearance of paresthesia, upper and lower limb muscle weakness, ataxia, and urinary incontinency as typical signs. Then, the medications were changed to methylprednisolone and interferon therapy, which resulted in improvements in the clinical conditions of the patient. Conclusion: Based on the fact that organic disorders such as MS may sometimes appear with initial pure psychiatric symptoms without any neurological signs and symptoms, examinations for symptoms linked to CNS dysfunction, cognitive changes, atypical symptoms, detailed neurological examination, and limited response to conventional antipsychotic drugs are highly

  8. CT abnormality in multiple sclerosis analysis based on 28 probable cases and correlation with clinical manifestations

    International Nuclear Information System (INIS)

    Kakigi, Ryusuke; Shibasaki, Hiroshi; Tabira, Takeshi; Kuroiwa, Yoshigoro; Numaguchi, Yuji.

    1981-01-01

    In order to investigate the occurrence and nature of CT abnormality and its correlation with clinical manifestations in multiple sclerosis, 34 CT records obtained from 28 consecutive patients with probable multiple sclerosis were reviewed. Forty-six percent of all cases showed abnormal CT. Dilatation of cortical sulci was found in 39%; dilatation of the lateral ventricle in 36%; dilatation of prepontine or cerebello-pontine cistern and the fourth ventricle, suggesting brainstem atrophy, in 18%; dilatation of cerebellar sulci, superior cerebellar cistern and cisterna magna, suggesting cerebellar atrophy, in 11%. Low density area was found in the cerebral hemisphere in 11% of cases. Contrast enhancement, performed on 25 CT records, did not show any change. There was no correlation between CT abnormality and duration of the illness. Although abnormal CT tended to occur more frequently during exacerbations and chronic stable state than during remissions, the difference was not statistically significant. CT abnormalities suggesting brainstem atrophy, cerebellar atrophy or plaques were found exclusively during exacerbations and chronic stable state. The occurrence of CT abnormalities was not significantly different among various clinical forms which were classified based on clinically estimated sites of lesion, except that abnormal CT tended to occur less frequently in cases classified as the optic-spinal form. It is noteworthy that cerebral cortical atrophy and/or dilatation of the lateral ventricle were found in 31% of cases who did not show any clinical sign of cerebral involvement. There was a statistically significant correlation between CT abnormalities and levels of clinical disability. Eighty percent of the bedridden or severely disabled patients showed abnormal CT, in contrast with only 29% of those with moderate, slight or no disability. (author)

  9. CT abnormality in multiple sclerosis analysis based on 28 probable cases and correlation with clinical manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Kakigi, R.; Shibasaki, H.; Tabira, T.; Kuroiwa, Y. (Kyushu Univ., Fukuoka (Japan). Faculty of Medicine); Numaguchi, Y.

    1981-10-01

    In order to investigate the occurrence and nature of CT abnormality and its correlation with clinical manifestations in multiple sclerosis, 34 CT records obtained from 28 consecutive patients with probable multiple sclerosis were reviewed. Forty-six percent of all cases showed abnormal CT. Dilatation of cortical sulci was found in 39%; dilatation of the lateral ventricle in 36%; dilatation of prepontine or cerebello-pontine cistern and the fourth ventricle, suggesting brainstem atrophy, in 18%; dilatation of cerebellar sulci, superior cerebellar cistern and cisterna magna, suggesting cerebellar atrophy, in 11%. Low density area was found in the cerebral hemisphere in 11% of cases. Contrast enhancement, performed on 25 CT records, did not show any change. There was no correlation between CT abnormality and duration of the illness. Although abnormal CT tended to occur more frequently during exacerbations and chronic stable state than during remissions, the difference was not statistically significant. CT abnormalities suggesting brainstem atrophy, cerebellar atrophy or plaques were found exclusively during exacerbations and chronic stable state. The occurrence of CT abnormalities was not significantly different among various clinical forms which were classified based on clinically estimated sites of lesion, except that abnormal CT tended to occur less frequently in cases classified as the optic-spinal form. It is noteworthy that cerebral cortical atrophy and/or dilatation of the lateral ventricle were found in 31% of cases who did not show any clinical sign of cerebral involvement. There was a statistically significant correlation between CT abnormalities and levels of clinical disability. Eighty percent of the bedridden or severely disabled patients showed abnormal CT, in contrast with only 29% of those with moderate, slight or no disability.

  10. Nuclear magnetic resonance imaging in a case of facial myokymia with multiple sclerosis

    International Nuclear Information System (INIS)

    Kojima, Shigeyuki; Yagishita, Toshiyuki; Kita, Kohei; Hirayama, Keizo; Ikehira, Hiroo; Fukuda, Nobuo; Tateno, Yukio.

    1985-01-01

    A 59-year-old female of facial myokymia with multiple sclerosis was reported. In this case, facial myokymia appeared at the same time as the first attack of multiple sclerosis, in association with paroxysmal pain and desesthesia of the neck, painful tonic seizures of the right upper and lower extremities and cervical transverse myelopathy. The facial myokymia consisted of grossly visible, continuous, fine and worm-like movement, which often began in the area of the left orbicularis oculi and spread to the other facial muscles on one side. Electromyographic studies revealed grouping of motor units and continuous spontaneous rhythmic discharges in the left orbicularis oris suggesting facial myokymia, but there were no abnormalities on voluntary contraction. Sometimes doublet or multiplet patterns occurred while at other times the bursts were of single motor potential. The respective frequencies were 3-4/sec and 40-50/sec. There was no evidence of fibrillation. The facial myokymia disappeared after 4-8 weeks of administration of prednisolone and did not recur. In the remission stage after disappearance of the facial myokymia, nuclear magnetic resonance (NMR) imaging by the inversion recovery method demonstrated low intensity demyelinated plaque in the left lateral tegmentum of the inferior pons, which was responsible for the facial myokymia, but X-ray computed tomography revealed no pathological findings. The demyelinated plaque demonstrated by NMR imaging seemed to be located in the infranuclear area of the facial nerve nucleus and to involve the intramedurally root. (J.P.N.)

  11. Prevalence of Small Intestinal Bacterial Overgrowth in Multiple Sclerosis: a Case-Control Study from China.

    Science.gov (United States)

    Zhang, Yongbo; Liu, Guoyi; Duan, Yuanli; Han, Xinwen; Dong, Huihua; Geng, Jia

    2016-12-15

    It's hypothesized that gastrointestinal microbiota might play an important role in pathogenesis of multiple sclerosis (MS). The aim of the present study was to assess the prevalence of small intestinal bacterial overgrowth (SIBO) in MS patients compared with sex and age matched controls without MS. The present study was a case-control type, it included 118 patients with definitive MS and 118 age-sex matched controls. Progression of disability was assessed using the Multiple Sclerosis Severity Score (MSSS). All patients and controls underwent the glucose breath test to assess SIBO. Forty-five of the 118 MS patients were SIBO positive (38.14%; 95%CI: 29.37%-46.90%) compared with 10 of 118 in the control group (8.47%; 95% confidence interval [CI]: 3.45%-13.50%); the difference was statistically significant (Ppresented at least one GI symptom. Constipation (78.0%), Bloating (46.6%), and fecal incontinence (44.1%) were common. Multivariate analysis showed that expanded disability status scale (EDSS) score and MSSS were the only factors associated with the SIBO-positive status in MS patients (OR, 3.44; 95% CI, 1.56-6.99; and OR, 2.76; 95% CI, 1.42-4.94, respectively). SIBO is highly prevalent in Chinese patients with MS. Further analytical work is required to establish a causal association between SIBO and MS risk and progression. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Magnetic resonance imaging in multiple sclerosis: analysis of 107 cases; Ressonancia magnetica na esclerose multipla: analise de 107 casos

    Energy Technology Data Exchange (ETDEWEB)

    Minguetti, Guilberto [Parana Univ., Curitiba, PR (Brazil). Dept. de Clinica Medica; Iwamoto, Fabio M.; Yanai, Douglas [Parana Univ., Curitiba, PR (Brazil). Faculdade de Medicina

    1998-04-01

    The authors report a retrospective study of 107 cases of clinically proved multiple sclerosis and confirmed by magnetic resonance imaging, in a state of Brazil (Parana) which is located between the parallels 22 and 30 South. Comments are made about the age of the patients, number and location of the lesions in the brain and spinal cord. (author) 31 refs., 6 figs., 3 tabs.

  13. Acute disseminated encephalomyelitis complicating dengue infection with neuroimaging mimicking multiple sclerosis: A report of two cases.

    Science.gov (United States)

    Viswanathan, S; Botross, N; Rusli, B N; Riad, A

    2016-11-01

    Acute disseminated encephalomyelitis (ADEM) complicating dengue infection is still exceedingly rare even in endemic countries such as Malaysia. Here we report two such cases, the first in an elderly female patient and the second in a young man. Both presented with encephalopathy, brainstem involvement and worsening upper and lower limb weakness. Initial magnetic resonance imaging (MRI) of the brain was normal in the first case. Serum for dengue Ig M and NS-1 was positive in both cases. Cerebrospinal fluid (CSF) showed pleocytosis in both with Dengue IgM and NS-1 positive in the second case but not done in the first. MRI brain showed changes of perpendicular subcortical palisading white matter, callosal and brainstem disease mimicking multiple sclerosis (MS) in both patients though in the former case there was a lag between the onset of clinical symptoms and MRI changes which was only clarified on reimaging. The temporal evolution and duration of the clinical symptoms, CSF changes and neuroimaging were more suggestive of Dengue ADEM rather than an encephalitis though initially the first case began as dengue encephalitis. Furthermore in dengue encephalitis neuroimaging is usually normal or rarely edema, haemorrhage, brainstem, thalamic or focal lesions are seen. Therefore, early recognition of ADEM as a sequelae of dengue infection with neuroimaging mimicking MS and repeat imaging helped in identifying these two cases. Treatment with intravenous steroids followed by maintenance oral steroids produced good outcome in both patients. Copyright © 2016 Elsevier B.V. All rights reserved.

  14. Tuber Storage Proteins

    Science.gov (United States)

    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 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. PMID:12730067

  15. 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.

  16. Enhancement of Cognitive Processing by Multiple Sclerosis Patients Using Liquid Cooling Technology: A Case Study

    Science.gov (United States)

    Montgomery, Leslie D.; Montgomery, Richard W.; Ku, Yu-Tsuan; Luna, Bernadette (Technical Monitor)

    1997-01-01

    Cognitive dysfunction is a common symptom in patients with multiple sclerosis (MS). This can have a significant impact on the quality of life of both the patient and of their primary care giver. This case study explores the possibility that liquid cooling therapy may be used to enhance the cognitive processing of MS patients in the same way that it provides temporary relief of some physical impairment. Two MS patients were presented a series of pattern discrimination tasks before and after being cooled with a liquid cooling garment for a one hour period. The subject whose ear temperature was reduced during cooling showed greater electroencephalographic (EEG) activity and scored much better on the task after cooling. The patient whose ear temperature was unaffected by cooling showed less EEG activity and degraded performance after the one hour cooling period.

  17. Dietary factors and pediatric multiple sclerosis: A case-control study.

    Science.gov (United States)

    Pakpoor, Julia; Seminatore, Brandon; Graves, Jennifer S; Schreiner, Teri; Waldman, Amy T; Lotze, Timothy E; Belman, Anita; Greenberg, Benjamin M; Weinstock-Guttman, Bianca; Aaen, Gregory; Tillema, Jan-Mendelt; McDonald, Jamie C; Hart, Janace; Ness, Jayne M; Harris, Yolanda; Rubin, Jennifer; Candee, Meghan; Krupp, Lauren; Gorman, Mark; Benson, Leslie; Rodriguez, Moses; Chitnis, Tanuja; Mar, Soe; Kahn, Ilana; Rose, John; Carmichael, Suzan L; Roalstad, Shelly; Waltz, Michael; Casper, T Charles; Waubant, Emmanuelle

    2017-06-01

    The role of diet in multiple sclerosis (MS) is largely uncharacterized, particularly as it pertains to pediatric-onset disease. To determine the association between dietary factors and MS in children. Pediatric MS patients and controls were recruited from 16 US centers (MS or clinically isolated syndrome onset before age 18, least 2 silent lesions on magnetic resonance imaging). The validated Block Kids Food Screener questionnaire was administered 2011-2016. Chi-squared test compared categorical variables, Kruskal-Wallis test compared continuous variables, and multivariable logistic regression analysis was performed. In total, 312 cases and 456 controls were included (mean ages 15.1 and 14.4 years). In unadjusted analyses, there was no difference in intake of fats, proteins, carbohydrates, sugars, fruits, or vegetables. Dietary iron was lower in cases ( p = 0.04), and cases were more likely to consume below recommended guidelines of iron (77.2% of cases vs 62.9% of controls, p < 0.001). In multivariable analysis, iron consumption below recommended guidelines was associated with MS (odds ratio = 1.80, p < 0.01). Pediatric MS cases may be less likely to consume sufficient iron compared to controls, and this warrants broader study to characterize a temporal relationship. No other significant difference in intake of most dietary factors was found.

  18. Amyotrophic lateral sclerosis in Brazil: Case series and review of the Brazilian literature.

    Science.gov (United States)

    Prado, Laura de Godoy Rousseff; Bicalho, Isabella Carolina Santos; Vidigal-Lopes, Mauro; Ferreira, Carla Juliana Araújo; Mageste Barbosa, Luiz Sérgio; Gomez, Rodrigo Santiago; De Souza, Leonardo Cruz; Teixeira, Antônio Lúcio

    2016-01-01

    Our objective was to systematically analyse the first series of cases of amyotrophic lateral sclerosis (ALS) in Minas Gerais and to review the Brazilian literature about clinical studies in ALS. This was a cross-sectional and descriptive study of a consecutive series of patients with probable or defined sporadic ALS according to the Awaji criteria, followed at two referral centres of Belo Horizonte (South-east Brazil). Patients underwent full clinical assessment. Comparisons of patient subgroups according to disease duration and initial presentation were performed. A systematic review was performed about Brazilian clinical studies in ALS. Results showed that of the 61 enrolled patients the male/female ratio was 1.6:1. The mean age at onset of symptoms was 54.9 years (SD ± 11.4). Mean age at diagnosis was 56.3 years (SD ± 11.1). Regarding the initial form of presentation, 43 cases (70.5%) were spinal, 12 cases (19.7%) were generalized and six cases (9.8%) were bulbar. Eight studies were found in the systematic review. In conclusion, the profile of our sample was similar to other national and international series, except for fewer cases of bulbar ALS in our series. There are few clinical studies of ALS in Brazil. The national data of prevalence and incidence are still uncertain.

  19. Pneumatosis Intestinalis as the Initial Presentation of Systemic Sclerosis: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Farshid Ejtehadi

    2012-01-01

    Full Text Available Introduction. Pneumatosis intestinalis (PI is an uncommon pathology characterised by the presence of gas within the intestinal wall. It has been associated with various conditions, including connective tissue diseases. This is the first report of PI being the initial presentation of systemic sclerosis. Case Presentation. The patient, a 75-year-old female, presented with an 8-month history of worsening dysphagia and epigastric pain, as well as other nonspecific symptoms. Initial investigations with an oesophagogastroduodenoscopy diagnosed Candida oesophagitis and also identified an extrinsic compression of the gastric antrum. Subsequently a CT scan of the abdomen and pelvis showed moderately dilated small bowel loops and PI. Due to the patient’s stability, non-critical clinical condition, conservative management was instituted. More detailed investigations confirmed the diagnosis of systemic sclerosis with positive anticentromeric and antinuclear antibodies. The patient improved on methotrexate and was discharged with appropriate outpatient follow-up. Discussion. PI is a rare but well-documented pathology associated with connective tissue diseases, such as systemic sclerosis. In most cases, conservative management is preferable to surgical intervention, depending on the patient’s clinical presentation and progress. This is the first report of PI being the initial presentation of a patient with systemic sclerosis responsive to conservative management.

  20. Survival and Cause of Death among a Cohort of Confirmed Amyotrophic Lateral Sclerosis Cases

    Science.gov (United States)

    Paulukonis, Susan T.; Roberts, Eric M.; Valle, Jhaqueline P.; Collins, Natalie N.; English, Paul B.; Kaye, Wendy E.

    2015-01-01

    Introduction Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. Estimates of survival from disease onset range from 20 to 48 months and have been generated using clinical populations or death records alone. Methods Data on a cohort of ALS cases diagnosed between 2009–2011 were collected as part of the Los Angeles and San Francisco Bay Area Metropolitan ALS Surveillance projects; death records 2009–2013 were linked to these confirmed cases to determine survival post diagnosis and factors associated with survival time. Results There were 618 cases identified and 283 of these died during the follow up time period. Median age at death was 64.3 years, and median survival time post-diagnosis was 2.6 years. Age at diagnosis and year of diagnosis were predictors of survival time in adjusted models; those diagnosed at age 80 or older had shorter survival than those diagnosed at age 50 or younger. Most (92%) had ALS noted as a cause of death. Discussion Survival post-diagnosis may be improved compared with previous reports. Age at diagnosis continues to be the strongest predictor of prognosis; recall case reporting bias may play a role in estimates of survival time. PMID:26172548

  1. First-episode psychosis as the initial presentation of multiple sclerosis: a case report.

    Science.gov (United States)

    Enderami, Athena; Fouladi, Rose; Hosseini, Seyed Hamzeh

    2018-01-01

    Multiple sclerosis (MS) is an inflammatory disease that affects the central nervous system (CNS). MS with episode of psychosis is a rare entity, and to the best of our knowledge, no case has been reported from Iran till date. We report a case of MS with first-episode psychosis in a 27-year-old single man with no history of psychiatric disorder or drug abuse. The patient developed neurological symptoms after 3 months and was finally diagnosed as a case of MS. His symptoms started with behavioral dysfunctions and progressively resulted in depression. Subsequently, treatment was performed with citalopram 20 mg daily, risperidone 2 mg three times a day, and biperiden 2 mg three times a day; however, no improvements in the symptoms were observed. T2-weighted magnetic resonance imaging has demonstrated periventricular and white matter multiple sclerotic plugs with lesions. Eventually, MS was diagnosed after the appearance of paresthesia, upper and lower limb muscle weakness, ataxia, and urinary incontinency as typical signs. Then, the medications were changed to methylprednisolone and interferon therapy, which resulted in improvements in the clinical conditions of the patient. Based on the fact that organic disorders such as MS may sometimes appear with initial pure psychiatric symptoms without any neurological signs and symptoms, examinations for symptoms linked to CNS dysfunction, cognitive changes, atypical symptoms, detailed neurological examination, and limited response to conventional antipsychotic drugs are highly recommended to be carried out for patients with first-episode psychosis and even in the followup period.

  2. The environmental risk factors in multiple sclerosis susceptibility: A case-control study.

    Science.gov (United States)

    Shaygannejad, Vahid; Rezaie, Nooshin; Paknahad, Zamzam; Ashtari, Freshteh; Maghzi, Helia

    2016-01-01

    Multiple sclerosis (MS) is a demyelinating and degenerating disease which involves central nervous system. Environmental risk factors have a key role in MS susceptibility. Here we aim to investigate different risk factors effect on MS susceptibility in a large population of MS patients in Isfahan, Iran. This study is a cross-sectional hospital-based study, which was conducted on a large group of MS patients registered in Kashani hospital and a control group from normal healthy population. Demographic data, age at onset of the disease, history of viral infections, vaccination, history of trauma to head, recent stressful events, alimentation, familial history, method of delivery (caesarean section, normal vaginal delivery), disability score and history of smoking were gathered using a designed questionnaire. Totally 536 MS patient with the mean age of 34.37 ± 9.22 and 399 individuals from healthy population with the mean age of 32.53 ± 9.91 were recruited. Significant difference in history of measles infection (control = 15.5%, case = 22.4%, P = 0.009), consumption of dairy products (case = 56.6%, control = 67.5%, P = 0.01) and major stressful life events (case = 62.2%, control = 52.7%, P < 0.05) between these two groups were demonstrated. A significant relation between stress, history of infection and milk consumption was reached that highlights the importance of environmental risk factors in MS pathogenesis.

  3. 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.

  4. Encapsulating peritoneal sclerosis in a peritoneal dialysis patient with prune-belly syndrome: a case report.

    Science.gov (United States)

    Geurts, N; Hubens, G; Wojciechowski, M; Vaneerdeweg, W

    2010-01-01

    This case describes a prune-belly syndrome patient who had a kidney transplantation and was diagnosed with Encapsulating Peritoneal Sclerosis (EPS), a rare but potentially fatal condition, mostly associated with Peritoneal Dialysis (PD). The definition of EPS is based on the clinical findings linked to bowel obstruction and on the demonstration of peritoneal thickening. Surgical treatment is the only established basic treatment for the condition. Prune-belly syndrome is characterized by the triad of deficient abdominal musculature, urinary tract abnormality and cryptorchidism. Because it is often associated with end-stage renal disease, PD is essential in the treatment of patients with prune-belly syndrome. The aetiology of EPS follows a 'two-hit theory': the first 'hit' is peritoneal deterioration, caused by long-time exposure to PD. This causes peritoneal disruption which predisposes the patient to a second hit. In our patient, PD discontinuation and renal transplantation are possible 'second hits' that triggered the development of EPS. This case of prune-belly syndrome has all the necessary elements for the development of EPS, and we felt we should report it as the peroperative diagnosis was unexpected.

  5. Hippocampal Sclerosis of Aging Can Be Segmental: Two Cases and Review of the Literature

    Science.gov (United States)

    Ighodaro, Eseosa T.; Jicha, Gregory A.; Schmitt, Frederick A.; Neltner, Janna H.; Abner, Erin L.; Kryscio, Richard J.; Smith, Charles D.; Duplessis, Taylor; Anderson, Sonya; Patel, Ela; Bachstetter, Adam; Van Eldik, Linda J.; Nelson, Peter T.

    2015-01-01

    Hippocampal sclerosis of aging (HS-Aging) is a neurodegenerative disease that mimics Alzheimer disease (AD) clinically and has a prevalence rivaling AD in advanced age. Whereas clinical biomarkers are not yet optimized, HS-Aging has distinctive pathological features that distinguish it from other diseases with “hippocampal sclerosis” pathology, such as epilepsy, cerebrovascular perturbations, and frontotemporal lobar degeneration. By definition, HS-Aging brains show neuronal cell loss and gliosis in the hippocampal formation out of proportion to AD-type pathology; it is strongly associated with aberrant TDP-43 pathology and arteriolosclerosis. Here, we describe 2 cases of “segmental” HS-Aging in which “sclerosis” in the hippocampus was evident only in a subset of brain sections by hematoxylin and eosin (H&E) stain. In these cases, TDP-43 pathology was more widespread on immunostained sections than the neuronal cell loss and gliosis seen in H&E stains. The 2 patients were cognitively intact at baseline and were tracked longitudinally over a decade using cognitive studies with at least 1 neuroimaging scan. We discuss the relevant HS-Aging literature, which indicates the need for a clearer consensus-based delineation of “hippocampal sclerosis” and TDP-43 pathologies in aged subjects. PMID:26083567

  6. A case study of an emerging visual artist with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

    Science.gov (United States)

    Liu, Anli; Werner, Kelly; Roy, Subhojit; Trojanowski, John Q; Morgan-Kane, Ursula; Miller, Bruce L; Rankin, Katherine P

    2009-06-01

    Patients presenting with left-sided FTLD syndromes sometimes develop a new preoccupation with art, greater attention to visual stimuli, and increased visual creativity. We describe the case of a 53-year-old, right-handed man with a history of bipolar disorder who presented with language and behavior impairments characteristic of FTLD, then developed motor symptoms consistent with a second diagnosis of amyotrophic lateral sclerosis. Though the patient had never created visual art before, he developed a compulsion for painting beginning at the earliest stages of his disease, and continued producing art daily until he could no longer lift a paintbrush because of his motor deficits. Upon autopsy, he was found to have ubiquitin and TDP43-positive inclusions with MND pathology. This case study details the patient's longitudinal neuropsychological, emotional, behavioral, and motor symptoms, along with structural imaging, neurologic, and neuropathologic findings. Multiple examples of the patient's art are depicted throughout all stages of his illness, and the possible cognitive, behavioral, and neurologic correlates of his new-onset visual artistry are discussed.

  7. Prolonged Barium-Impaction Ileus in Two Lung Transplant Recipients With Systemic Sclerosis: Case Report.

    Science.gov (United States)

    Tokman, S; Hays, S R; Leard, L E; Bush, E L; Kukreja, J; Kleinhenz, M E; Golden, J A; Singer, J P

    2015-12-01

    Lung transplantation can be a life-saving measure for people with end-stage lung disease from systemic sclerosis. However, outcomes of lung transplantation may be compromised by gastrointestinal manifestations of systemic sclerosis, which can involve any part of the gastrointestinal tract. Esophageal and gastric disease can be managed by enteral feeding with the use of a gastrojejunal feeding tube. In this report, we describe the clinical courses of 2 lung transplant recipients with systemic sclerosis who experienced severe and prolonged barium-impaction ileus after insertion of a percutaneous gastrojejunal feeding tube. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Sexual habits before multiple sclerosis: a national case-control study

    DEFF Research Database (Denmark)

    Lidegaard, O.; Svendsen, Anne Louise; Lidegaard, Øjvind

    2008-01-01

    The trigging off agent for multiple sclerosis (MS) is despite intensive epidemiological and biomedical research still unknown. The disease is typically diagnosed in reproductive age and recent findings have suggested that MS could be a sexually transmitted disease....

  9. Language abilities of patients with primary progressive multiple sclerosis: A preliminary group and case investigation.

    Science.gov (United States)

    Barwood, Caroline H S; Murdoch, Bruce E

    2013-02-04

    Language impairments are reported in multiple sclerosis (MS). To date, the majority of studies have evaluated language differences between relapsing-remitting (RR) and chronic progressive (CP) clinical courses. Neurologists have distinguished two progressive courses of MS: primary progressive (PP) MS and secondary progressive (SP) MS. Recent evidence suggests that cognitive performance profiles may provide a means of differentiating between the clinical courses of RR, SP, and PPMS. With this in mind, a deviation of language profiles between sub-types is predicted. The purpose of this study is to profile the language abilities of five participants with PPMS. Five participants with PPMS participated in this investigation. The participants were assessed using the Neurosensory Center Comprehensive Examination for Aphasia (NCCEA), the Boston Naming Test (BNT), and the Test of Language Competence-Expanded (TLC-E). Data analysis consisted of (a) comparison of the total scores achieved by the PPMS participants and a group of 26 age-matched controls on the NCCEA, BNT, and TLC-E, and (b) case studies to individually profile the language abilities of the five participants with PPMS. Comparison of the NCCEA, BNT, and TLC-E total scores of the participants with PPMS and the control group did not indicate significant differences between the two groups. Case-by-case analysis revealed deficits in meta-linguistic abilities in two participants. The results provide preliminary evidence to suggest that, although patients with PPMS may have preserved general language abilities, some individuals may present with mild impairments in high-level linguistic abilities.

  10. [Scleroderma-like skin sclerosis induced by docetaxel chemotherapy for hormone refractory prostate cancer: a case report].

    Science.gov (United States)

    Maehana, Takeshi; Mizuno, Takahiro; Muto, Masatoshi; Nishiyama, Naotaka; Yanase, Masahiro

    2010-09-01

    We report the first case of scleroderma-like skin sclerosis induced by docetaxel chemotherapy for prostate cancer in Japan. A 67-year-old man underwent radical prostatectomy for cT3aN0M0 prostate cancer in 2003. Thereafter PSA recurrence developed and antiandrogen deprivation therapy was used. However, we diagnosed this case as hormone refractory prostate cancer and began docetaxel chemotherapy in October 2008. There were no nonhematological adverse events through two courses of treatment. He presented to dermatology due to pain and swelling of both upper arms on the second day of the third course. However, when treated with a cooling method, swelling of the upper arms became worse and CPK rose to 1,921 IU/I on the eighth day. We administered a steroid ointment and an antibiotic due to suspicion of thrombophlebitis. Nevertheless, CPK rose to 2,791 IU/I and a skin biopsy was done. In consequence, scleroderma-like skin sclerosis induced by docetaxel chemotherapy was diagnosed. Swelling appeared in both lower limbs and the pain got worse on the 17th day. Therefore docetaxel chemotherapy was discontinued and prednisolone was increased to 30 mg/day, in addition to beginning codeine use for the pain. Thereafter, the painful sclerosis was ameliorated.

  11. 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)

  12. Cluster headache as a first manifestation of multiple sclerosis: case report and literature review

    Directory of Open Access Journals (Sweden)

    Mijajlović MD

    2014-11-01

    Full Text Available Milija D Mijajlović,* Vuk M Aleksić,* Nadežda M Čovičković Šternić Department for Cerebrovascular Disorders and Headaches, Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia *These authors contributed equally to this work Abstract: Cluster headache (CH is estimated to be the most common primary trigeminal autonomic headache, although it is a rare disabling medical condition. Dominant symptoms of CH include severe unilateral orbital, supraorbital, and/or temporal pain, lasting from 15 to 180 minutes if untreated, associated with at least one of various autonomic symptoms during the headache, such as conjunctival injection, lacrimation, nasal congestion and rhinorrhea, facial sweating, miosis, ptosis, and eyelid edema. Headache is not frequently a symptom of multiple sclerosis (MS. The most commonly reported primary headaches are migraine without aura and a tension-type headache. Several described cases involved complicated migraine, ophthalmoplegic migraine-like headache, and finally cluster-like headache. We present a case of a 45-year-old male patient who had typical CH attacks as the initial and only clinical manifestation of MS, which was diagnosed after cerebrospinal fluid (CSF isoelectric focusing and brain magnetic resonance imaging (MRI investigation. He presented as a typical cluster-like headache patient since in the background of the CH symptoms and signs, were MS demyelinating lesions. In a patient with CH symptoms one should always think about the possibility of cluster-like-headache, which presents the CH patient with different underlying diseases, so we proposed a protocol to evaluate such patients and exclude diseases that could be in the background of CH symptoms. Keywords: demyelinating disease, headache, trigeminal autonomic cephalalgia, diagnosis

  13. Glioma and multiple sclerosis: case report Glioma e esclerose múltipla: relato de caso

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    2002-06-01

    Full Text Available We report a case of a 44-years-old woman with relapsing-remitting and secondarily progressive form of multiple sclerosis (MS since aged 24 years, who developed an anaplastic astrocytoma. The neurological manifestations of the tumor were misinterpreted as resulting from MS. Sequential MRI examination and seizures raised the possibility of another nature of her symptoms, besides MS. Her initial good response to high doses corticosteroids led to the initial assumption her symptoms were only exclusively due to the demyelinating process. She underwent craniotomy with radical excision of the lesion. Pathological examination disclosed anaplastic astrocytoma. Other cases of coincidental MS and primary CNS tumors are reviewed, as well as their possible relation.Relatamos o caso de uma paciente de 44 anos, portadora de esclerose múltipla forma surto-remissão e progressiva secundária, que na evolução desenvolveu um astrocitoma anaplásico. Os sintomas do tumor se confundiram com os da esclerose múltipla e com a repetição de ressonâncias magnéticas foi possível suspeitar do diagnóstico. Além dos sinais neurológicos, também apresentava crises convulsivas. A melhora com os cursos de pulsoterapia mascaravam os sintomas do tumor. Submetida a craniotomia e retirado tumor com características histológicas e histoquímicas de astrocitoma anaplásico, ao lado de áreas de desmielinização típicas de esclerose múltipla. São discutidos os aspectos radiológicos, incidência e mecanismos da concomitância das duas doenças.

  14. Environmental risk factors in the aetiology of multiple sclerosis in Kayseri: a case control study

    Directory of Open Access Journals (Sweden)

    Servin Yeşil Günal

    2013-06-01

    Full Text Available Background: our purpose is to evaluate the possible relationship between multiple sclerosis (MS and environmental factors in Kayseri.Methods: this case control study was conducted on 100 patients with MS and 100 sex-aged and residential area matched control. Data was collected by using face to face interviews. Questionnaire consisted of two parts. The first part was comprised of items related with the participants’ sociodemographic features. The second part was related with factors thought to be involved in the occurrence or aggravation of the disease. The Chi-square test and logistic regression were used for analysis.Results: logistic regression analysis revealed the following as possible risk factors in MS cases: economic status (Odds Ratio (OR: 0.14 adjusted 7.19; Confidence Interval 95% (CI: 0.05-0.43, having a sensitive personality (OR:4.51; 95% CI: 1.10-18.45, familial history of MS (OR:3.28; 95% CI: 1.3-8.27, history of cranial and spinal injury (OR: 2.99; 95% CI: 1.11-8.08, cooking oil consumption (OR:0.07 adjusted 13.5; 95% CI: 0.03-0.20, consumption of legumes and grains (OR: 0.11 adjusted 8.9; 95% CI: 0.03-0.41, and living in dwellings within a distance of 500 meters from transformer basestations (OR: 6.5; 95% CI: 1.54-28.21.Conclusions: we believe that it is necessary to inform the individuals about the risk of MS and their relatives of the results of large-scale joint studies and to offer suggestions based on the data obtained.

  15. PSEUDOTUMORAL FORM OF MULTIPLE SCLEROSIS WITH SYMPTOMATIC CONVULSIVE SEIZURES (A CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    Yu. A. Belova

    2015-01-01

    Full Text Available Multiple sclerosis (MS is prominent among central nervous system diseases. It affects chiefly young people and almost inevitably results in disability. In the past decade, there has been an upward trend for the prevalence of MS worldwide; in particular, the higher prevalence of this disease has been registered in the Moscow Region, which is associated with both an objective increase in its morbidity and improvement of specialized care to the population in the region. MS is characterized by a variety of clinical manifestations. However, paroxysmal disturbances are referred to as the rare symptoms of MS: the incidence of epileptic seizures in this condition is 0.89 to 7.5% according to the literature data. In addition to the clinical form of MS, there are its rare malignant atypical forms that also include its pseudotumoral form characterized by intrinsic neuroimaging and clinical signs that are different from the classical form of MS and another abnormality of the central nervous system. The pseudotumoral form of MS is characterized by the development of acute focal demyelination that appears as a large focus of an increased magnetic resonance signal with perifocal edema as evidenced by magnetic resonance imaging. A pseudotumoral focus of demyelination can occur both at the onset of MS and during its recurrent course. The atypical onset of MS is a special challenge because of diagnostic problems, which may lead to erroneous therapeutic policy and have a negative impact on the late prognosis of the disease. The authors provide a clinical case of the pseudotumoral form of MS with convulsive seizures at the onset of demyelinating disease. The problems of diagnosis and therapeutic approaches are discussed.

  16. A Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During Disease

    Directory of Open Access Journals (Sweden)

    Jayden A Clark

    2016-09-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is an aggressive multifactorial disease converging on a common pathology: the degeneration of motor neurons, their axons and neuromuscular synapses. This vulnerability and dysfunction of motor neurons highlights the dependency of these large cells on their intracellular machinery. Neuronal microtubules are an intracellular structure that facilitates a myriad of vital neuronal functions, including activity dependent axonal transport. In ALS it is becoming increasingly apparent that microtubules are likely to be a critical component of this disease. Not only are disruptions in this intracellular machinery present in the vast majority of seemingly sporadic cases, recent research has revealed that mutation to a microtubule protein, the tubulin isoform TUBA4A, is sufficient to cause a familial, albeit rare, form of disease. In both sporadic and familial disease, studies have provided evidence that microtubule mediated deficits in axonal transport are the tipping point for motor neuron survivability. Axonal transport deficits would lead to abnormal mitochondrial recycling, decreased vesicle and mRNA transport and limited signalling of key survival factors from the neurons peripheral synapses, causing the characteristic peripheral ‘die back’. This disruption to microtubule dependant transport in ALS has been shown to result from alterations in the phenomenon of microtubule dynamic instability: the rapid growth and shrinkage of microtubule polymers. This is accomplished primarily due to aberrant alterations to microtubule associated proteins (MAPS that regulate microtubule stability. Indeed, the current literature would argue that microtubule stability, particularly alterations in their dynamics, may be the initial driving force behind many familial and sporadic insults in ALS. Pharmacological stabilisation of the microtubule network offers an attractive therapeutic strategy in ALS; indeed it has shown promise in

  17. Surgical Management of Encapsulating Peritoneal Sclerosis: A Case Report in Kidney Transplant Patient

    Directory of Open Access Journals (Sweden)

    R. Shahbazov

    2018-01-01

    Full Text Available Introduction. Encapsulating peritoneal sclerosis (EPS is a clinical syndrome of progressive fibrotic change in response to prolonged, repetitive, and typically severe insult to the peritoneal mesothelium, often occurring in the setting of peritoneal dialysis (PD. Clear guidelines for successful management remain elusive. We describe the successful surgical management of EPS in a 28-year-old male s/p deceased donor kidney transplant for end-stage renal disease (ESRD secondary to focal segmental glomerulosclerosis (FSGS. This patient received PD for 7 years but changed to hemodialysis (HD in the year of transplant due to consistent signs and symptoms of underdialysis. EPS was visualized at the time of transplant. Despite successful renal transplantation, EPS progressed to cause small bowel obstruction (SBO requiring PEG-J placement for enteral nutrition and gastric decompression. The patient subsequently developed a chronic gastrocutaneous fistula necessitating chronic TPN and multiple admissions for pain crises and bowel obstruction. He was elected to undergo surgical intervention due to deteriorating quality of life and failure to thrive. Surgical management included an exploratory laparotomy with extensive lysis of adhesions (LOA, repair of gastrocutaneous fistula, and end ileostomy with Hartmann’s pouch. Postoperative imaging confirmed resolution of the SBO, and the patient was transitioned to NGT feeds and eventually only PO intake. He is continuing with PO nutrition, gaining weight, and free from dialysis. Conclusion. Surgical intervention with LOA and release of small intestine can be successful for definitive management of EPS in the proper setting. In cases such as this, where management with enteral nutrition fails secondary to ongoing obstructive episodes, surgical intervention can be pursued in the interest of preserving quality of life.

  18. A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome.

    Directory of Open Access Journals (Sweden)

    Rajiv Raina

    2013-01-01

    Full Text Available Multiple sclerosis (MS is a chronic disease characterized by inflammation, demyelination, gliosis (scarring, and neuronal loss; the course can be relapsing-remitting or progressive. Manifestations of MS vary from a benign illness to a rapidly evolving and incapacitating disease requiring profound lifestyle adjustments. We report a 24 year old female who presented with right internuclear ophthalmoplegia with right lower motor neuron facial nerve palsy which is called eight and half syndrome. The etiology in our patient was multiple sclerosis which was confirmed by radio-imaging studies. Patient improved on pulse therapy of methyl prednisolone and tapering dose of steroids.

  19. Use of reserve substances by irradiated tubers

    International Nuclear Information System (INIS)

    Perez Tabares, Francisco; Perez Talavera, Susana

    1999-01-01

    The response of tubers of potato (Solanum tuberosun L.) and sweet potato (Ipomoea batatas L.) to gamma radiation from 60 Co were investigated. The use of reserve substances by the tubers increased when the irradiation dose raise up to the level of GR10-20 and then decreased down to the values lower than the control non-irradiated tubers

  20. Regulation of potato tuber dormancy and sprouting

    NARCIS (Netherlands)

    Aksenova, N.P.; Sergeeva, L.; Konstantinova, T.N.; Golyanovskaya, S.A.; Kolachevskaya, O.O.; Romanov, G.A.

    2013-01-01

    Dormancy is the final stage of tuber life serving to preserve tubers as organs of vegetative reproduction under unfavorable growth conditions. Since the duration of potato tuber dormancy and their sprouting time have significant economic importance, much attention is given to the study of the

  1. 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 ...

  2. At the heart of primary progressive multiple sclerosis: three cases with diffuse MRI abnormalities only

    NARCIS (Netherlands)

    Zwemmer, J.N.P.; Bot, J.C.J.; Jelles, B.; Barkhof, F.; Polman, C.H.

    2008-01-01

    We present three patients with a clinical course and cerebrospinal fluid findings consistent with a diagnosis of primary progressive multiple sclerosis (PPMS). Extensive and repeated magnetic resonance imaging (MRI) examinations showed only diffuse abnormality in brain and spinal cord, but no focal

  3. The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study.

    Science.gov (United States)

    Křenek, Pavel; Benešová, Yvonne; Bienertová-Vašků, Julie; Vašků, Anna

    2018-03-28

    Vitamin D receptor polymorphisms have been the target of many studies focusing on multiple sclerosis. However, previously reported results have been inconclusive. The objective of this study was to investigate the association between five vitamin D receptor polymorphisms (EcoRV, FokI, ApaI, TaqI, and BsmI) and multiple sclerosis susceptibility and its course. The study was carried out as a case-control and genotype-phenotype study, consisted of 296 Czech multiple sclerosis patients and 135 healthy controls. Genotyping was carried out using polymerase chain reaction and restriction analysis. In multiple sclerosis men, allele and/or genotype distributions differed in EcoRV, TaqI, BsmI, and ApaI polymorphisms as compared to controls (EcoRV, p a = 0.02; Taq, p g = 0.02, p a = 0.02; BsmI, p g = 0.02, p a = 0.04; ApaI, p g = 0.008, p a = 0.005). In multiple sclerosis women, differences in the frequency of alleles and genotypes were found to be significant in ApaI (controls vs multiple sclerosis women: p g = 0.01, p a = 0.05). Conclusive results were observed between multiple sclerosis women in the case of EcoRV [differences in Expanded Disability Status Scale (p = 0.05); CT genotype was found to increase the risk of primary progressive multiple sclerosis 5.5 times (CT vs CC+TT p corr = 0.01, sensitivity 0.833, specificity 0.525, power test 0.823)] and FokI [borderline difference in Multiple Sclerosis Severity Score (p = 0.05)]. Our results indicate that the distribution of investigated vitamin D receptor polymorphisms is a risk factor for multiple sclerosis susceptibility and progression in the Czech population. The association between disease risk and polymorphisms was found to be stronger in men. The association of disease progression with polymorphisms was observed only in women.

  4. Multiple Sclerosis

    Science.gov (United States)

    Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the ... attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins ...

  5. Antiphospholipid Syndrome - A Case Report of Pulmonary Thromboembolism, Followed with Acute Myocardial Infarction in Patient with Systemic Sclerosis

    Directory of Open Access Journals (Sweden)

    Marija Vavlukis

    2015-11-01

    CONCLUSION: The acquired antiphospholipid syndrome is common condition in patients with systemic autoimmune diseases, but relatively rare in patients with systemic sclerosis. Never the less, we have to be aware of it when treating the patients with systemic sclerosis.

  6. Progressive systemic sclerosis in a child

    Directory of Open Access Journals (Sweden)

    Arun K De

    2013-01-01

    Full Text Available Systemic sclerosis is a clinically heterogeneous systemic disease affecting the connective tissues of skin, walls of blood vessels and internal organs like lung, heart and kidneys. Systemic sclerosis is very unusual in pediatric population. Children represent fewer than 10% of all cases. We report a case of 11 years old girl of progressive systemic sclerosis presenting with features of cutaneous sclerosis, microstomia, mask-like facies, sclerodactyly, esophageal dysmotility, Raynaud′s phenomenon, arthralgia and pulmonary fibrosis.

  7. Leukocyte-derived microparticles and scanning electron microscopic structures in two fractions of fresh cerebrospinal fluid in amyotrophic lateral sclerosis: a case report

    Directory of Open Access Journals (Sweden)

    Zachau Anne C

    2012-09-01

    Full Text Available Abstract Introduction Amyotrophic lateral sclerosis is a progressive neurodegenerative disorder characterized by degeneration of motoneuron cells in anterior spinal horns. There is a need for early and accurate diagnosis with this condition. In this case report we used two complementary methods: scanning electron microscopy and fluorescence-activated cell sorting. This is the first report to our knowledge of microparticles in the cerebrospinal fluid of a patient with amyotrophic lateral sclerosis. Case presentation An 80-year-old Swedish man of Caucasian ethnicity presented to our facility with symptoms of amyotrophic lateral sclerosis starting a year before his first hospital examination, such as muscle weakness and twitching in his right hand progressing to arms, body and leg muscles. Electromyography showed classical neurophysiological findings of amyotrophic lateral sclerosis. Routine blood sample results were normal. A lumbar puncture was performed as a routine investigation and his cerebrospinal fluid was normal with regard to cell count and protein levels, and there were no signs of inflammation. However, scanning electron microscopy and fluorescence-activated cell sorting showed pronounced abnormalities compared to healthy controls. Flow cytometry analysis of two fractions of cerebrospinal fluid from our patient with amyotrophic lateral sclerosis was used to measure the specific binding of antibodies to CD42a, CD144 and CD45, and of phosphatidylserine to lactadherin. Our patient displayed over 100 times more phosphatidylserine-positive microparticles and over 400 times more cell-derived microparticles of leukocyte origin in his cerebrospinal fluid compared to healthy control subjects. The first cerebrospinal fluid fraction contained about 50% more microparticles than the second fraction. The scanning electron microscopy filters used with cerebrospinal fluid from our patient were filled with compact aggregates of spherical particles of

  8. Outcomes of Cognitive-Behavioral Treatment for Insomnia on Insomnia, Depression, and Fatigue for Individuals with Multiple Sclerosis: A Case Series

    OpenAIRE

    Clancy, Megan; Drerup, Michelle; Sullivan, Amy Burleson

    2015-01-01

    Background: This clinical case series examined outcomes of cognitive-behavioral therapy for insomnia (CBT-I) in individuals with multiple sclerosis (MS). Current literature links insomnia with higher rates of depression and fatigue in individuals with MS. However, no research to date evaluates a targeted psychotherapeutic intervention for insomnia in this population.

  9. Changes in host-mycorrhiza relationships revealed by stable isotopes after naturally-induced thinning of the stand: case study on Tuber aestivum.

    Science.gov (United States)

    Gavrichkova, Olga; Lauteri, Marco; Ciolfi, Marco; Chiocchini, Francesca; Paris, Pierluigi; Pisanelli, Andrea; Portarena, Silvia; Brugnoli, Enrico

    2016-04-01

    Terrestrial plants overcome nutrients and water limitations by forming mutualistic associations with mycorrhizal fungi. Fungi, in return, take advantage from the carbohydrates supplied by the host. Some mycorrhizal fruit bodies, like that of Tuber spp., have a peculiar gastronomic value with many efforts being undertaken to predict and enhance their productivity. However, many issues of truffle-producing mycorrhizal ecology are still poorly understood, in particular optimal conditions favoring fruit formation, potential host plants and host-mycorrhiza relationships. In this study, we tested the applicability of stable isotope measurements under natural abundance to identify the plants which likely host the mycorrhiza of Tuber aestivum and to characterize host-mycorrhizal nutrient, water and carbohydrate exchange under plant natural growing conditions and with the change of the forest cover after naturally occurred thinning. For these purposes, sampling of the fruit bodies of T. aestivum was performed during the growing season 2011 in a mixed broadleaved-coniferous forest in central Italy (initially the site was a manmade pine plantation). Nine truffle-producing parcels were identified with five being composed of the original Pinus pinaster -dominated vegetation and four in which pine was replaced by broadleaf species after both wind-induced thinning and natural dieback of pine trees. Seasonal variation of δ13C, δ15N and δ18O were analyzed in the fungal material, in the surrounding soil and in the plant material of the potential host species (xylem water in the trunk, branches and leaves, recently assimilated carbohydrates in phloem and leaves). The results showed a possibility of the identification of the mycorrhizal host species applying isotope analyses, with mycorrhiza receiving most part of the carbohydrates from the pine in pine-dominated parcels. Interestingly, in thinned parcels, the truffle bodies maintained isotope composition similar to bodies gathered

  10. Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report

    International Nuclear Information System (INIS)

    Kondoh, T.; Moriuchi, Hiroyuki; Yoshinaga, Muneyoshi; Takayanagi, Toshimitsu; Matsumoto, Tadashi; Uetani, Masataka; Kubota, Takeo; Nishimura, Gen

    2001-01-01

    We report a 29-month-old girl with osteopathia striata with cranial sclerosis (OS-CS), who showed several unusual manifestations, including short stature, muscular hypotonia, short lingual frenulum, an accessory ear and a granuloma at the oral edge. The most unusual distressing finding was severe cervical kyphosis with a dysplastic cervical spine. MRI revealed impingement of the upper spinal cord. To clarify the mode of inheritance of this disease in this patient, we performed a methylation-specific PCR analysis. It eventually showed random inactivation of X-chromosomes, suggesting an autosomal dominant trait. (orig.)

  11. Central Mound Mastopexy for the Correction of Tuberous/Tubular Breast Deformity

    Directory of Open Access Journals (Sweden)

    Olivia A. Abbate, BA

    2017-11-01

    Full Text Available Summary:. Tuberous and tubular breast deformity are well-recognized abnormalities in the plastic surgery community that incur severe physical and psychological consequences in affected patients. Current reconstructive options for the tuberous and tubular breasts favor the use of prosthetic implants and soft-tissue manipulation. We present a case of tuberous and tubular breast deformity treated with a central mound reduction technique and mastopexy with imbricating sutures without the use of prosthetic implants. The patient remained extremely pleased with her results at long-term follow-up. This represents a unique case of successful reconstruction in a patient with a tuberous and tubular breast deformity using a central mound reduction technique with mastopexy and without a prosthetic device.

  12. Localized cortical bone sclerosis and intramedullar linear sclerosis in neurofibromatosis

    International Nuclear Information System (INIS)

    Kuur, E.; Hjarbaek, J.; Teisen, H.

    1988-01-01

    A case of localised cortical bone sclerosis of the left tibia and intramedullar linear sclerosis in the left femur, in association with neurofibromatosis in a 25-year-old female, is presented. The differential diagnostic problems in relation to bone tumours are emphasised. (orig.) [de

  13. Health Care Cost for Multiple Sclerosis: The Case of a Health Insurer in Colombia.

    Science.gov (United States)

    Muñoz-Galindo, Ivan Mauricio; Moreno Calderón, Jairo Alexander; Guarín Téllez, Natalia Elizabeth; Arévalo Roa, Helbert Orlando; Díaz Rojas, Jorge Augusto

    2018-03-29

    There have been many studies on the cost of multiple sclerosis in countries with high prevalence, whereas in Latin America such analyses are few. Taking into consideration the burden of this disease and the high financial impact of treatment on the health care system, it is necessary to know the behavior of cost of illness. To describe the direct costs associated with health care in patients with multiple sclerosis affiliated with a health insurer in Colombia. An analysis of direct costs of disease was performed from the perspective of the third-party payer. A direct measurement from the technical costing "top-down" approach was used. Data were adjusted for inflation and expressed in 2014 US dollars. The average annual cost per patient for the country was $29,339 (2010), $20,956 (2011), $23,892 (2012), $24,148 (2013), and $22,688 (2014). Drug therapy represented 86.1% of the total cost. Between 2010 and 2013, interferons accounted for the largest proportion of the costs of drug treatment (98.5% to 53%), whereas fingolimod showed an increase and accounted for 47% in 2014. Medications account for the largest proportion of disease costs, with few variations in the last 5 years; nevertheless, the increase in the use of new pharmaceuticals poses a challenge to maintain the financial balance of health insurance. Copyright © 2018. Published by Elsevier Inc.

  14. Multiple sclerosis associated with trismus.

    Science.gov (United States)

    D'Costa, D. F.; Vania, A. K.; Millac, P. A.

    1990-01-01

    This report describes the case history of a middle-aged lady who presented with symptoms and signs over one year leading to a diagnosis of multiple sclerosis. During one of her relapses, she developed trismus--an association that has not been described before in multiple sclerosis. PMID:2099430

  15. A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Hayward, C.; Brock, D.J.H. [Univ. of Edinburgh (United Kingdom); Swingler, R.J. [Dundee Royal Infirmary (United Kingdom)] [and others

    1996-11-01

    Amyotrophic lateral sclerosis (ALS) is a degenerative disease of motor neurons, causing progressive muscular atrophy, weakness, and death from respiratory failure, often within 2-3 years. Although most cases are sporadic, some 5%-10% are inherited as autosomal dominants with age-dependent penetrance. An ALS locus has been mapped to chromosome 21q, and causative mutations identified in the Cu/Zn superoxide dismutase (SOD1) gene. A majority of SOD1 mutations have been found in cases with a clear family history of ALS. However, we and others have also described SOD1 mutations in patients where the disease appears to be sporadic. This is especially true for the missense mutation in codon 113 of the SOD1 gene, which substitutes threonine for isoleucine (I113T). One explanation for this finding is that this codon is a mutational hot spot with sporadic cases representing new mutations. Another is that the inherited nature of the cases is disguised by the reduced penetrance of this specific mutation. We have now shown that each of six unrelated cases of I113T mutation that we have collected in the Scottish population occurs on the same genetic background. Association analysis of multiple flanking loci on chromosome 21q supports the conclusion of a founder effect, with the original mutational event occurring {ge}10 generations ago. 12 refs., 1 fig., 1 tab.

  16. Determining Changes in Neural Circuits in Tuberous Sclerosis

    Science.gov (United States)

    2013-05-01

    Washington Headquarters Services, Directorate for Information Operations and Reports (0704-0188), 1215 Jefferson Davis Highway, Suite 1204, Arlington, VA...Tsc1fl/+ or Gbx2CreER;R26tdTomato;Tsc1fl/+ males with Tsc1fl/+ females. The morning (0900) of the day a vaginal plug was detected was designated as...dsRed+) projections could be used to track entire axonal bundles en route to the deep cortical layers in more lateral sections (Fig. 3F). Finally, by P7

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

    African Journals Online (AJOL)

    mammalian target of rapamycin) 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. We await with interest results from ...

  18. mTOR dysregulation and tuberous sclerosis-related epilepsy

    NARCIS (Netherlands)

    Curatolo, Paolo; Moavero, Romina; van Scheppingen, Jackelien; Aronica, Eleonora

    2018-01-01

    The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic

  19. Tuberous sclerosis: A rare cause of seizure in Nigeria. | Altraide ...

    African Journals Online (AJOL)

    There was associated learning disabilities and poor school performance, with sudden outburst of mood swings ranging from laughter to anger. Speech was delayed. He has been on Carbamazepine for the past two years and is seizure free. There was no history of similar illness in the family. Physical examination showed ...

  20. Attention Deficit Hyperactivity Disorder and Tuberous Sclerosis Complex

    Science.gov (United States)

    ... at an increased risk for autism spectrum disorder. Autism spectrum disorder may cause hyperactivity and inattention, and some children may have both autism and ADHD. As listed above, there are a ...

  1. Mutational Analysis of Cell Types in Tuberous Sclerosis Complex (TSC)

    Science.gov (United States)

    2009-01-01

    TSC brain specimens in the cortex, thalamus, basal ganglia, and cerebellum which may contribute to epilepsy, infantile spasms , and neurocognitive...abnormalities in brain function. For example, epilepsy occurs in over 70-80% of TSC patients and infantile spasms , a devastating epilepsy syndrome...i.e., infantile spasms or autism, but have normal neuroimaging studies. Likely, there are microscopic structural alterations not detectable by MRI that

  2. Studying Protein Synthesis-Dependent Synaptic Changes in Tuberous Sclerosis

    Science.gov (United States)

    2013-04-01

    and infantile spasm in TSC is treatable with Vigabatrin, a GABA transaminase inhibitor. This indicates that abnormal protein synthesis may skew the...microscopic duplication of 22q13 including the Shank3 gene manifested with infantile hypotonia, developmental delay and growth deficiency (6). Shank1...deviation toward hyperexcitability was not corrected at least 30 minute after rapamycin treatment (100 µM). This may be because the effect of

  3. Differential diagnosis of critical digital ischemia in systemic sclerosis: Report of five cases and review of the literature.

    Science.gov (United States)

    Sharp, Charlotte A; Akram, Qasim; Hughes, Michael; Muir, Lindsay; Herrick, Ariane L

    2016-10-01

    Critical digital ischemia is a rare, but serious complication of systemic sclerosis (SSc) and is not always due solely to the non-inflammatory angiopathy that characterizes the SSc disease process. Our objective was to illustrate the range of presentations and causes of critical digital ischemia in patients with SSc in order to highlight how optimal management is dependent upon establishing the correct diagnosis. Five cases exemplifying differential diagnoses were identified and their case notes reviewed in order to extract clinically relevant data and images. A review of the literature was performed in PubMed in English. Causes of critical digital ischemia included typical micro-angiopathic changes and proximal (large vessel) disease. One case highlighted the difficulty of ascertaining whether an inflammatory cause is also present in SSc/SLE overlap syndrome. Two cases demonstrated embolic causes (thromboembolism due to atrial fibrillation and septic emboli). Critical digital ischemia in patients with SSc requires thorough investigation in order to avoid missing additional potentially modifiable causes including large vessel disease, inflammation, embolism, infection, and paraneoplastic syndromes. A firm evidence base for current medical and surgical interventions is lacking, highlighting the need for further research into the optimum management of this rare, but painful, debilitating, and limb-threatening complication of SSc. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Effect of Contralateral Strength Training on Muscle Weakness in People With Multiple Sclerosis: Proof-of-Concept Case Series.

    Science.gov (United States)

    Manca, Andrea; Cabboi, Maria Paola; Ortu, Enzo; Ginatempo, Francesca; Dragone, Daniele; Zarbo, Ignazio Roberto; de Natale, Edoardo Rosario; Mureddu, Giovanni; Bua, Guido; Deriu, Franca

    2016-06-01

    The contralateral strength training (CST) effect is a transfer of muscle performance to the untrained limb following training of the contralateral side. The aim of this study was to explore, in individuals with multiple sclerosis (MS) presenting marked lower limb strength asymmetry, the effectiveness of CST on management of muscle weakness of the more-affected limb following training of the less-affected limb. A single-subject research design was used. Eight individuals with MS underwent 16 to 18 high-intensity training sessions of the less-affected ankle dorsiflexor muscles. The primary outcome measure of this single-system case series was maximal strength expressed as peak moment and maximal work. Secondary outcome measures were: Six-Minute-Walk Test, Timed "Up & Go" Test, 10-Meter Timed Walk Test, and Multiple Sclerosis Quality of Life-54 questionnaire. After the 6-week intervention, the contralateral more affected (untrained) limb showed a 22% to 24% increase in maximal strength. From pretest-posttest measurements, participants also performed significantly better on the clinical and functional secondary outcome measures. At the 12-week follow-up, the strength levels of the weaker untrained limb remained significantly superior to baseline levels in the majority (5 out of 8) of the outcome parameters. Considering the design used, the absence of a control group, and the sample size, these findings should be cautiously generalized and will need confirmation in a properly planned randomized controlled trial. The present proof-of-concept study shows, for the first time, the occurrence of the CST effect on muscle performance of ankle dorsiflexor muscles in people with MS. These preliminary findings reveal new potential implications for CST as a promising rehabilitation approach to those conditions where unilateral muscle weakness does not allow or makes difficult performing conventional strength training of the weaker limb. © 2016 American Physical Therapy

  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. Progressive speech deterioration and dysphagia in amyotrophic lateral sclerosis: case report.

    Science.gov (United States)

    Dworkin, J P; Hartman, D E

    1979-09-01

    Amyotrophic lateral sclerosis (ALS) is a degenerative neurologic disease having both upper and lower motor neuron signs and symptoms. When the speech musculature is involved, a mixed dysarthria and dysphagia usually result. In a 49-year-old man with ALS, dysarthria and dysphagia progressed from mild to severe forms over 17 months. Eleven months after the patient first experienced symptoms, neurologic examination showed fasciculations of the extremities and tongue, limb weakness, and hyperreflexia of the limbs and velopharyngeal mechanism. Tongue strength was one-fourth that of normal. Lingual alternate motions rates for consonant-vowel syllables were also reduced. To enhance lingual strength and swallowing, a tongue-strengthening program was developed for use with articulation training; to augment velopharyngeal function, a palatal lift was fitted; and to increase extremity strength, physical therapy was initiated. Six months after the initial neurologic examination, medical and speech reevaluation showed progressive weakness of the body parts affected initially; continued decline in tongue strength and lingual alternate motion rate; hypoactive reflex activity, indicative of progressive involvement of the lower motor neuron system; and continued deterioration of articulation and phonation owing to the progressive nature of the disease.

  7. The internet racing ahead of the scientific evidence: the case of "liberation treatment" for multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Yára Dadalti Fragoso

    2011-06-01

    Full Text Available Multiple sclerosis (MS is a chronic neurological disease that typically affects young adults. A recent publication suggested that MS might originate from insufficient blood drainage in certain areas of the central nervous system. The condition was named chronic cerebrospinal venous insufficiency (CCSVI. Other papers have not confirmed these findings and, therefore, the matter remains controversial. Nineteen months after the original publication on CCSVI and MS, another 22 papers have been published addressing the matter. No clinical trials have been carried out on the subject and there is no evidence-based indication to perform surgical vascular procedures in MS patients. However, over the same nineteen-month period, the internet discussion on the subject of CCSVI and MS has led to countless websites advertising treatment using vascular surgery for patients with MS all over the world. The treatment based on the CCSVI theory has appealingly been called "liberation treatment", thus making it difficult to explain to patients why a treatment that has been highly praised (on the internet cannot be recommended based on partial medical results that await confirmation.

  8. Comprometimento pulmonar na esclerose sistêmica: revisão de casos Pulmonary involvement in systemic sclerosis: cases review

    Directory of Open Access Journals (Sweden)

    Marcel Koenigkam Santos

    2006-06-01

    Full Text Available OBJETIVO: Rever e avaliar os padrões de alterações encontrados em exames de imagem de pacientes com comprometimento pulmonar da esclerose sistêmica. MATERIAIS E MÉTODOS: Foram retrospectivamente estudados os exames de radiografia simples e tomografia computadorizada de alta resolução de 23 pacientes com esclerose sistêmica. RESULTADOS: Na radiografia simples, o padrão reticular em bases pulmonares foi predominante, tendo sido verificado em 18 pacientes (78,2%. A tomografia computadorizada de alta resolução evidenciou lesão pulmonar em todos os pacientes estudados, encontrando-se faveolamento em nove pacientes (39,1%, opacidades em vidro fosco associadas a opacidades reticulares em oito (34,7%, predomínio de opacidades reticulares em cinco (21,7% e vidro fosco em um paciente (4,3%. CONCLUSÃO: O padrão de anormalidades tomográficas possui boa correlação com os achados histopatológicos, diferenciando padrões predominantemente inflamatórios de fibróticos, com os padrões inflamatórios estando associados a uma resposta superior ao tratamento. Dessa maneira, observou-se alteração sugestiva de fibrose na maior parte dos casos (faveolamento e opacidades reticulares somando 60,8%, porém com boa parte apresentando padrões sugestivos de processo inflamatório.OBJECTIVE: To review and evaluate the patterns of imaging examinations findings of lung disease in patients with systemic sclerosis. MATERIALS AND METHODS: Plain x-rays and high-resolution computed tomography studies of 23 patients with systemic sclerosis were retrospectively analyzed. RESULTS: At plain x-rays, pulmonary disease with reticular pattern had higher prevalence, appearing in 18 patients (78.2%. High-resolution computed tomography showed lung involvement in the whole group of patients, with honeycombing in nine patients (39.1%, ground-glass opacities associated with reticular opacities in eight patients (34.7%, predominance of reticular opacities in five (21

  9. Multiple Sclerosis in Children

    OpenAIRE

    INALOO, Soroor; HAGHBIN, Saideh

    2013-01-01

    How to Cite This Article: Inaloo S, Haghbin S. Multiple Sclerosis in Children. Iran J Child Neurol. 2013 Spring;7(2):1-10. Multiple sclerosis (MS) is the most important immune-mediated demyelinated disease of human which is typically the disease of young adults. A total of 4% to 5% of MS population are pediatric. Pediatric MS is defined as the appearance of MS before the age of sixteen. About 80% of the pediatric cases and nearly all adolescent onset patients present with attacks typical to a...

  10. Juvenile amyotrophic lateral sclerosis.

    Science.gov (United States)

    Aggarwal, Anju; Shashiraj

    2006-03-01

    Juvenile amytrophic lateral sclerosis (JALS) is a type of motor neuron disease presenting before 25 years of age. It is characterized by a combination of upper and lower motor signs. It may be familial or sporadic. We are reporting a sporadic case of JALS with onset of symptoms at 4 years of age. Diagnostic criteria and a brief review of literature are presented.

  11. Multiple sclerosis in the real world: A systematic review of fingolimod as a case study.

    Science.gov (United States)

    Ziemssen, Tjalf; Medin, Jennie; Couto, C Anne-Marie; Mitchell, Catherine R

    2017-04-01

    The aim of our study was to systematically review the growing body of published literature reporting on one specific multiple sclerosis (MS) treatment, fingolimod, in the real world to assess its effectiveness in patients with MS, evaluate methodologies used to investigate MS in clinical practice, and describe the evidence gaps for MS as exemplified by fingolimod. We conducted a PRISMA-compliant systematic review of the literature (cut-off date: 4 March 2016). Published papers reporting real-world data for fingolimod with regard to clinical outcomes, persistence, adherence, healthcare costs, healthcare resource use, treatment patterns, and patient-reported outcomes that met all the eligibility criteria were included for data extraction and quality assessment. Based on 34 included studies, this analysis found that fingolimod treatment improved outcomes compared to the period before treatment initiation and was more effective than interferons or glatiramer acetate. However, among studies comparing fingolimod with natalizumab, overall trends were inconsistent: some reported natalizumab to be more effective than fingolimod and others reported similar effectiveness for natalizumab and fingolimod. These studies illustrate the challenges of investigating MS in the real world, including the subjectivity in evaluating some clinical outcomes and the heterogeneity of methodologies used and patient populations investigated, which limit comparisons across studies. Gaps in available real-world evidence for MS are also highlighted, including those relating to patient-reported outcomes, combined clinical outcomes (to measure overall treatment effectiveness), and healthcare costs/resource use. The included studies provide good evidence of the real-world effectiveness of fingolimod and highlight the diversity of methodologies used to assess treatment benefit in clinical practice. Future studies could address the evidence gaps found in the literature and the challenges associated

  12. Multiple Sclerosis

    Science.gov (United States)

    ... read or download the National Academies/Institute of Medicine report, go to: " Multiple Sclerosis: Current Status and Strategies for the Future ." Information from the National Library of Medicine’s MedlinePlus ...

  13. Iyengar yoga therapy as an intervention for cramp management in individuals with amyotrophic lateral sclerosis: three case reports.

    Science.gov (United States)

    Ribeiro, Subbappa

    2014-04-01

    Patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease of motor neurons, experience cramps at all stages of the illness. There is, at present, no effective medication to control the cramps and no agreement on how to treat the symptom in ALS patients. Three individuals who were diagnosed with ALS and reported suffering cramps in various parts of the body, which limited their activities or affected their sleep were invited to try Iyengar yoga. Yoga therapy, composed of stretching, breathing, and relaxation exercises, was prescribed for each case, based on the subject's physical disability and the presence of other symptoms. Although two subjects experienced cramps during the first therapy session, all three subjects reported the complete cessation of cramping within 3 weeks to 8 weeks of therapy. One of the subjects developed cramps in the hand after discontinuing yoga therapy for 7 months. However, the symptom stopped within 2 weeks of resuming yoga therapy. The alleviation of cramps in these three subjects indicates the possibility of yogic intervention for the management of cramps in individuals with ALS, but further research is necessary to understand the effectiveness of yoga therapy and to determine the exercises that are more prone to lead to cramping in some ALS individuals.

  14. Impact of patient suffering on caregiver well-being: the case of amyotrophic lateral sclerosis patients and their caregivers.

    Science.gov (United States)

    Boerner, Kathrin; Mock, Steven E

    2012-01-01

    The impact of patient suffering on family caregivers is an understudied but important topic. This study of patients with amyotrophic lateral sclerosis (ALS) and their caregivers examined the associations of two components of patient suffering: patient physical symptoms, and mental distress, as well as the patient's support for the caregiver, with caregiver well-being. The sample consisted of 52 patients with ALS and their caregivers. Patients and caregivers each completed a structured survey assessing multiple domains including demographics, health, and well-being. Specifically, patients rated their own physical symptoms and mental distress. Caregivers rated their own daily affect, and the extent to which they perceived the patient as supportive. Caregivers also reported whether or not they had found any benefit in dealing with the patient's illness. Regression analyses yielded significant associations of patient distress with caregiver negative affect; patient support was associated with greater caregiver positive affect, and patient symptoms and support were associated with greater likelihood of caregiver benefit finding. There was a significant two-way interaction of patient symptoms by support, namely, benefit finding was not only more likely with greater physical suffering and patient support, but it was also the case that caregivers who perceived the care recipient as unsupportive could only find benefit when this person experienced intense physical suffering. Support interventions for ALS patients and their caregivers should devote particular attention to how caregivers may be affected by witnessing their loved one's sufferings, as well as identify and address challenges in support exchanges between caregivers and patients.

  15. Late onset temporal lobe epilepsy with MRI evidence of mesial temporal sclerosis following acute neurocysticercosis. Case report

    Energy Technology Data Exchange (ETDEWEB)

    Kobayashi, Eliane; Guerreiro, Carlos A.M.; Cendes, Fernando [Universidade Estadual de Campinas, SP (Brazil). Faculdade de Ciencias Medicas. Dept. de Neurologia]. E-mail: fcendes@unicamp.br

    2001-06-01

    The objective of this case report is to describe magnetic resonance imaging (MRI) evidence of mesial temporal sclerosis (MTS) in a patient with new onset temporal lobe epilepsy (TLE) and acute neurocysticercosis with multiple cysts. A 56 years old man with new onset headache, Simple Partial Seizures and Complex Partial Seizures underwent CT scan and lumbar puncture as diagnose proceeding. Multiple cysts and meningitis were identified, with a positive immunology for cysticercosis. Seizures were recorded over the left temporal region in a routine EEG. Treatment with al bendazole was performed for 21 days, with clinical improvement and seizure remission after 4 months. An MRI scan 11 months after treatment, showed complete resolution of those cystic lesions and a left hippocampal atrophy (HA) with hyperintense T2 signal. The presence of HA and hyperintense T 2 signal in this patient has not, to date, been associated with a poor seizure control. Conclusions: This patient presented with MRI evidence of left MTS after new onset partial seizures of left temporal lobe origin. Although we did not have a previous MRI scan, it is likely that this hippocampal abnormality was due to the acute inflammatory response to cysticercosis associated to repeated partial seizures. This suggests that acute neurocysticercosis associated with repeated seizures may cause MTS and late onset TLE. (author)

  16. Late onset temporal lobe epilepsy with MRI evidence of mesial temporal sclerosis following acute neurocysticercosis. Case report

    International Nuclear Information System (INIS)

    Kobayashi, Eliane; Guerreiro, Carlos A.M.; Cendes, Fernando

    2001-01-01

    The objective of this case report is to describe magnetic resonance imaging (MRI) evidence of mesial temporal sclerosis (MTS) in a patient with new onset temporal lobe epilepsy (TLE) and acute neurocysticercosis with multiple cysts. A 56 years old man with new onset headache, Simple Partial Seizures and Complex Partial Seizures underwent CT scan and lumbar puncture as diagnose proceeding. Multiple cysts and meningitis were identified, with a positive immunology for cysticercosis. Seizures were recorded over the left temporal region in a routine EEG. Treatment with al bendazole was performed for 21 days, with clinical improvement and seizure remission after 4 months. An MRI scan 11 months after treatment, showed complete resolution of those cystic lesions and a left hippocampal atrophy (HA) with hyperintense T2 signal. The presence of HA and hyperintense T 2 signal in this patient has not, to date, been associated with a poor seizure control. Conclusions: This patient presented with MRI evidence of left MTS after new onset partial seizures of left temporal lobe origin. Although we did not have a previous MRI scan, it is likely that this hippocampal abnormality was due to the acute inflammatory response to cysticercosis associated to repeated partial seizures. This suggests that acute neurocysticercosis associated with repeated seizures may cause MTS and late onset TLE. (author)

  17. Amyotrophic Lateral Sclerosis and Myasthenia Gravis Overlap Syndrome: A Review of Two Cases and the Associated Literature

    Directory of Open Access Journals (Sweden)

    Hongfei Tai

    2017-05-01

    Full Text Available ObjectiveTo describe the characteristics of patients with amyotrophic lateral sclerosis (ALS and myasthenia gravis (MG overlap syndrome and explore the relationship between the two diseases.MethodsWe conducted a search of medical records at Peking Union Medical University Hospital from 1983 to 2015 for coexistence of ALS and MG and searched the PubMed database for all literature describing ALS and MG overlap syndrome published through December 2016. We analyzed the clinical and neurophysiological characteristics of patients by groups according to strict diagnostic criteria.ResultsWe presented 2 patients in our database with combined ALS and MG, and together with 25 cases reported in the literature, the patients were divided into 4 groups: 12 patients with MG followed by ALS, 8 patients with ALS followed by MG, 5 ALS patients with false-positive anti-acetylcholine receptor, and the other 2 ALS patients with only myasthenia symptoms. Most patients had limb onset ALS, and myasthenia symptoms mainly affected ocular and bulbar muscles. Clinical and neurophysiological characteristics were summarized.ConclusionThese findings support the conclusion that immunological mechanisms and alterations in the neuromuscular junction are related to ALS pathogenesis.

  18. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.

    Science.gov (United States)

    Lill, Christina M; Liu, Tian; Schjeide, Brit-Maren M; Roehr, Johannes T; Akkad, Denis A; Damotte, Vincent; Alcina, Antonio; Ortiz, Miguel A; Arroyo, Rafa; Lopez de Lapuente, Aitzkoa; Blaschke, Paul; Winkelmann, Alexander; Gerdes, Lisa-Ann; Luessi, Felix; Fernadez, Oscar; Izquierdo, Guillermo; Antigüedad, Alfredo; Hoffjan, Sabine; Cournu-Rebeix, Isabelle; Gromöller, Silvana; Faber, Hans; Liebsch, Maria; Meissner, Esther; Chanvillard, Coralie; Touze, Emmanuel; Pico, Fernando; Corcia, Philippe; Dörner, Thomas; Steinhagen-Thiessen, Elisabeth; Baeckman, Lars; Heekeren, Hauke R; Li, Shu-Chen; Lindenberger, Ulman; Chan, Andrew; Hartung, Hans-Peter; Aktas, Orhan; Lohse, Peter; Kümpfel, Tania; Kubisch, Christian; Epplen, Joerg T; Zettl, Uwe K; Fontaine, Bertrand; Vandenbroeck, Koen; Matesanz, Fuencisla; Urcelay, Elena; Bertram, Lars; Zipp, Frauke

    2012-09-01

    Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently. We genotyped 12 740 subjects hitherto not studied for their APOE status, imputed raw genotype data from 8739 subjects from five independent genome-wide association studies datasets using the most recent high-resolution reference panels, and extracted genotype data for 8265 subjects from previous candidate gene assessments. Despite sufficient power to detect associations at genome-wide significance thresholds across a range of ORs, our analyses did not support a role of rs429358 or rs7412 on MS susceptibility. This included meta-analyses of the combined data across 13 913 MS cases and 15 831 controls (OR=0.95, p=0.259, and OR 1.07, p=0.0569, for rs429358 and rs7412, respectively). Given the large sample size of our analyses, it is unlikely that the two APOE missense SNPs studied here exert any relevant effects on MS susceptibility.

  19. Effectiveness and safety of oxycodone/naloxone in the management of chronic pain in patients with systemic sclerosis with recurrent digital ulcers: two case reports

    Directory of Open Access Journals (Sweden)

    Ughi N

    2016-03-01

    Full Text Available Nicola Ughi, Chiara Crotti, Francesca Ingegnoli Division of Rheumatology, Department of Clinical Sciences and Community Health, Gaetano Pini Institute, The University of Milan, Milan, Italy Abstract: Digital ulcers (DUs are a severe and frequent clinical feature of patients with systemic sclerosis (SSc. The presence of DUs may cause severe pain and often lead to impairment of patient’s functional activities and health-related quality of life. Moreover, poor patient cooperation during the wound care procedure due to pain may be associated with a negative outcome of DU healing. Therefore, pain management has a key role in patients with SSc. These two case reports describe the effectiveness and safety of oxycodone/naloxone in patients with SSc complicated by painful chronic DUs. Such a therapy has provided pain relief and consequently an increased compliance during redressing wounds. Keywords: oxycodone, naloxone, systemic sclerosis, pain, digital ulcer, scleroderma, analgaesia, wound healing, opioids, calcinosis, UCLA-SCTC GIT 2.0

  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. Diagnostic challenges in combined multiple sclerosis and centronuclear myopathy

    DEFF Research Database (Denmark)

    Olsen, D.B.; Langkilde, Annika Reynberg; Schmalbruch, H

    2000-01-01

    The first case of combined centronuclear myopathy and multiple sclerosis is reported. The difficulties of diagnosing multiple sclerosis in patients with muscular disorders associated with the central nervous system involvement are discussed...

  2. 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.

  3. Beneficial effect of botulinum toxin A on Raynaud's phenomenon in Japanese patients with systemic sclerosis: A prospective, case series study.

    Science.gov (United States)

    Motegi, Sei-ichiro; Yamada, Kazuya; Toki, Sayaka; Uchiyama, Akihiko; Kubota, Yuka; Nakamura, Tetsuya; Ishikawa, Osamu

    2016-01-01

    Currently, there is no satisfactory treatment for Raynaud's phenomenon (RP) in systemic sclerosis (SSc). Recently, it has been reported that botulinum toxin A (BTX-A) injection was effective for the treatment of RP in SSc patients. The objective was to assess the efficacy and safety of BTX-A on RP in Japanese SSc patients. In the prospective, case series study, 10 Japanese SSc patients with RP received 10 U of BTX-A injections into the hand. The change in severity of RP, including the frequency of attacks/pain, color changes, duration time of RP and the severity of pain, was assessed by Raynaud's score and pain visual analog scale (VAS) at each visit during 16 weeks. The recovery of skin temperature 20 min after cold water stimulation was examined by thermography at baseline and 4 weeks after injection. The number of digital ulcers (DU) and adverse effects were assessed at each visit. BTX-A injection decreased Raynaud's score and pain VAS from 2 weeks after injection, and the suppressive effect was continued until 16 weeks after injection. Skin temperature recovery after cold water stimulation at 4 weeks after injection was significantly enhanced compared with that before injection. All DU in five patients were healed within 12 weeks after injection. Neither systemic nor local adverse effects were observed in all cases. We conclude that BTX-A injection significantly improved the activity of RP in SSc patients without any adverse events, suggesting that BTX-A may have possible long-term preventive and therapeutic potentials for RP in Japanese SSc patients. © 2015 Japanese Dermatological Association.

  4. Esclerose lateral amiotrófica e neurossífilis Amyotrophic lateral sclerosis and neurosyphilis. A case report

    Directory of Open Access Journals (Sweden)

    Eliova Zukerman

    1973-09-01

    Full Text Available É relatado um caso clínico de esclerose lateral amiotrófica (ELA, caracterizado por amiotrofias extensas na cintura escapular e membros superiores, associadas a exaltação dos reflexos osteotendinosos nos membros inferiores, com sinal de Rossolimo bilateral e sinal Babinski esboçado a esquerda, sem distúrbios sensitivos ou esfinterianos, em mulher de 51 anos de idade e com história progressiva de um ano. O exame de líquido cefalorraqueano permitiu o diagnóstico de neurossífilis parenquimatosa. Chamando a atenção para a raridade dessa associação, os AA. discutem o papel da neuro-lues como fator causal da síndrome de ELA, concluindo por uma provável relação de causa e efeito no caso descrito, por ter havido estabilização do quadro sintomatológico após terapêutica penicilínica.A clinic case of amyotrophic lateral sclerosis (ALS in a 51 years old woman is reported. The patient exhibited signs of pyramidal system and anterior motor neuron involvement. The cerebrospinal fluid examinations showed clear cut indications of parenchymatous neurosyphilis. Attention is called to the rarity of the association above mentioned. The role of neurosyphilis as an atiological factor of ALS is discussed. The authors conclude that in the case described there is a close relationship between the two entities.

  5. 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.

  6. Effects of breaking seed tubers on yield components of the tuber crop Plectranthus edulis

    NARCIS (Netherlands)

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

    2013-01-01

    Plectranthus edulis is an ancient tuber crop, cultivated in Ethiopia, which produces stem tubers on stolons below the ground; however, agronomic and physiological information on this crop is scarce. Three field experiments were carried out at each of two locations (Awassa and Wondogenet, Ethiopia).

  7. Transcriptomic analysis of potato tuber development and tuber quality traits using microarray technology

    NARCIS (Netherlands)

    Kloosterman, B.A.

    2006-01-01

    The potato crop is one of the most important food crops in the world and in order to understand how in potato plants the formation of potato tubers and the determination of different tuber quality traits are regulated, we need to identify and characterize the genes that are involved in regulating

  8. Effect of tuber skin on the thermal properties of whole tubers of potato and sweet potato

    Science.gov (United States)

    Oluwo, A. A.; Khan, R. M.; Salami, M. J. E.

    2013-12-01

    Temperature-dependent thermal coefficients of mathematical models of the postharvest storage process play an important role in determining the models accuracy. Thermal properties of tubers under storage available in literature are generally of those in semi processed form (skinless) such as those having undergone peeling, dicing and cutting actions. This study investigates the effect of tuber skin on the thermal properties of whole tubers of potato and sweet potato. A direct approach was used to measure the tubers' density and thermal conductivity and thermal diffusivity by the transient heat transfer method. Indirect approach was used to measure the tubers' specific heat. Experimental data were used to develop empirical models of the thermal coefficients as a function of temperature. Results of the study should find great use in the modeling of potato and sweet potato storage process.

  9. Multiple sclerosis in the Faroe Islands. 7. Results of a case control questionnaire with multiple controls

    DEFF Research Database (Denmark)

    Kurtzke, J F; Hyllested, K; Arbuckle, J D

    1997-01-01

    by location or type of animal. There was a tendency to greater exposure to British troops during the war for cases versus Groups A and B but this did not attain statistical significance. Vaccinations for smallpox, tetanus and diphtheria were less common in the MS; no difference was found for other...... vaccinations. Except for a relative deficit in the cases for rubella and (insignificantly) for measles, mumps and chicken pox, reported illnesses were equally common among all groups. Operations, hospitalizations and injuries did not differentiate the groups, nor did age at menarche for women. Neurologic...

  10. Coupling the effect of mental practice and Pilates on ambulation of individuals with multiple sclerosis: Five case studies

    Directory of Open Access Journals (Sweden)

    Darshpreet Kaur

    2016-01-01

    Full Text Available Pilates, a popular form of exercise, greatly emphasizes on the strengthening of the core muscles; however, the efficacy of exercise program can be impaired in patients with cognitive impairments. To bridge this gap, mental practice of a desired task can help to mentally simulate a given action and retain many properties of the corresponding real action. This study tries to gain preliminary understanding on the effectiveness of the combination of mental practice and core-strengthening Pilates exercises. To explore the effectiveness of mental practice and Pilates-based training on core strength, balance and mobility in multiple sclerosis (MS patients. This study highlights a single center case series describing the outcomes in ambulant patients with MS treated with mental practice and Pilates. Five volunteer ambulant individuals with stable relapsing-remitting MS participated in 20 individualized sessions, spread over 10-week duration. Pilates with mental practice session was delivered by a physiotherapist. Each session comprised 20 min of mental practice followed by 40 min of core-strengthening Pilates exercises. All the included patients were screened with Movement Imagery Questionnaire-Revised Second Version to determine if they are were able to effectively engage in imagery practice. A range of outcomes were measured: Timed up and go, chair stand test, curl-ups, the abdominal angle through leg raises, and the Activities-specific Balance Confidence Scale before and after the intervention. Group data analysis indicated significant improvement between baseline and post-intervention phases for all the tested parameters. This study provides preliminary insight into this novel combination technique to improve balance and mobility in ambulant people with MS. Mental practice played an important role in keeping the patient's compliance, which was analyzed through structured interviews. Variations in response to the intervention are evident.

  11. Circadian rhythm sleep disorders in patients with multiple sclerosis and its association with fatigue: A case-control study

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Najafi

    2013-01-01

    Full Text Available Background: Circadian rhythm sleep disorders are a presentation of sleep disorders in patients with multiple sclerosis (MS. This study aims to compare this problem in MS patients with healthy people and to determine its association with chronic fatigue in MS patients. Materials and Methods: A case-control study was performed on 120 MS patients and 60 healthy subjects matched for age and sex, in 2009 in MS Clinic Alzahra Hospital. Sleep quality, rhythm and fatigue severity were assessed using PSQI (Pittsburgh sleep quality index and FSS (Fatigue severity Scale questionnaires, respectively. Its reliability and validity has been confirmed in several studies (Cronbach′s alpha = 0.83. This index has seven sections including patient′s assessment of his/her sleep, sleep duration, efficacy of routine sleep, sleep disorders, use of hypnotic medication, and dysfunction in daily activities. Results: Circadian rhythm sleep disorder was more frequent in MS patients relative to healthy subjects (P: 0.002. It was higher in MS patients with severe fatigue relative to MS patients with mild fatigue (P: 0.05. Fatigue severity was 49.9 ± 8.2 and 22.5 ± 7.4 in the first and second group, respectively. PSQI index was 7.9 ± 4.5 in patients with severe fatigue and 5.9 ± 4.5 in patients with mild fatigue and 4.5 ± 2.4 in the control group (P: 0.0001. Conclusion: Circadian rhythm sleep disorders are more frequent in MS patients and those with fatigue. Recognition and management of circadian rhythm sleep disorders in MS patients, especially those with fatigue may be helpful in improving care of these patients.

  12. Azathioprine therapy in a case of pediatric multiple sclerosis that was seropositive for MOG-IgG.

    Science.gov (United States)

    Zhou, Yifan; Huang, Qiao; Lu, Tingting; Sun, Xiaobo; Fang, Ling; Lu, Zhengqi; Hu, Xueqiang; Kermode, Allan; Qiu, Wei

    2017-04-01

    There is a lack of evidence for treatment of pediatric multiple sclerosis (PedMS). Treatment using azathioprine for PedMS has not been reported. A 10-year-old boy with multiple sclerosis who was seropositive for antibodies against myelin oligodendrocyte glycoprotein (MOG)-IgG was treated with azathioprine plus oral methylprednisolone. The patient showed clinical and magnetic resonance imaging stability, with MOG-IgG seroconversion. There were no major side effects over a 5-year period. Azathioprine may be a treatment option, particularly in poor medical resource areas, for pediatric patients with multiple sclerosis who are seropositive for MOG-IgG. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Multiple sclerosis in the Faroe Islands. 7. Results of a case control questionnaire with multiple controls

    DEFF Research Database (Denmark)

    Kurtzke, J F; Hyllested, K; Arbuckle, J D

    1997-01-01

    by location or type of animal. There was a tendency to greater exposure to British troops during the war for cases versus Groups A and B but this did not attain statistical significance. Vaccinations for smallpox, tetanus and diphtheria were less common in the MS; no difference was found for other...

  14. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, Egon; Stenager, E N; Knudsen, Lone

    1994-01-01

    In a cross-sectional study of 117 randomly selected patients (52 men, 65 women) with definite multiple sclerosis, it was found that 76 percent were married or cohabitant, 8 percent divorced. Social contacts remained unchanged for 70 percent, but outgoing social contacts were reduced for 45 percent......, need for structural changes in home and need for pension became greater with increasing physical handicap. No significant differences between gender were found. It is concluded that patients and relatives are under increased social strain, when multiple sclerosis progresses to a moderate handicap...

  15. Pulmonary Lymphangioleiomyomatosis. Presentation of 3 cases and revision of the literature

    International Nuclear Information System (INIS)

    Pedrozo Pupo, John C; Robinson, Eugenia; Gaviria, Alejandro; Ojeda Leon, Paulina; Pacheco, Pedro M

    2000-01-01

    We present three cases of women with pulmonary Iymphangioleiomyomatosis diagnosis, a 47-year-old woman whose initial manifestation was pneumothorax, a 40-year-old woman with progressive dyspnoea and other a 45-year-old woman with pneumothorax. Lymphangioleiomyomatosis is a rare lung disease that afflicts young women childbearing age and premenopausal. It is characterized pathologically by the proliferation of atypical pulmonary interstitial smooth muscle and by cyst formation. Unknown origin usually leads to progressive deterioration of lung function and eventual death from failure. It occurs in women of reproductive age and people with tuberous sclerosis

  16. 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.

  17. 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.

  18. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Knudsen, L; Jensen, K

    1991-01-01

    In a cross-sectional investigation of 116 patients with multiple sclerosis, the social and sparetime activities of the patient were assessed by both patient and his/her family. The assessments were correlated to physical disability which showed that particularly those who were moderately disabled...

  19. Multiple Sclerosis.

    Science.gov (United States)

    Plummer, Nancy; Michael, Nancy, Ed.

    This module on multiple sclerosis is intended for use in inservice or continuing education programs for persons who administer medications in long-term care facilities. Instructor information, including teaching suggestions, and a listing of recommended audiovisual materials and their sources appear first. The module goal and objectives are then…

  20. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Jensen, K

    1988-01-01

    Forty-two (12%) of a total of 366 patients with multiple sclerosis (MS) had psychiatric admissions. Of these, 34 (81%) had their first psychiatric admission in conjunction with or after the onset of MS. Classification by psychiatric diagnosis showed that there was a significant positive correlati...

  1. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Jensen, K

    1990-01-01

    An investigation on the correlation between ability to read TV subtitles and the duration of visual evoked potential (VEP) latency in 14 patients with definite multiple sclerosis (MS), indicated that VEP latency in patients unable to read the TV subtitles was significantly delayed in comparison...

  2. Early aggressive intra-venous pulse cyclophosphamide therapy for interstitial lung disease in a patient with systemic sclerosis. A case report.

    LENUS (Irish Health Repository)

    Peshin, R

    2009-06-01

    Interstitial lung disease is an important cause of mortality and morbidity in patients with systemic sclerosis (SSc). There are currently no recommended guidelines for management of these patients. This is probably due to the rarity of this condition, as well as clinical trials with only a small number of cases. There are published case report and case series along with the two main trials, viz. Scleroderma Lung Study and the Fibrosing Alveolitis Study, but again, there is no consensus on treatment protocols. In this report, we present a case of aggressive interstitial lung disease in a patient with SSc, which improved dramatically on treatment with intra-venous cyclophosphamide and high dose prednisolone therapy.

  3. Evaluation of Hemodynamic Properties of Cerebral Venous Drainage in Patients with Multiple Sclerosis: A Case-Control Study

    International Nuclear Information System (INIS)

    Jandaghi, Ali Babaei; Amanian, Dayan; Roudbari, Seyed Ali; Kanafi, Alireza Rajabzadeh; Pourghorban, Ramin

    2014-01-01

    The purpose of this study was to compare patients with multiple sclerosis and healthy control subjects as regards hemodynamics of cerebral venous drainage. Between December 2012 and May 2013, 44 consecutive patients with multiple sclerosis and 44 age- and sex-matched healthy subjects underwent the B-mode, color Doppler, and duplex Doppler evaluations of the internal jugular vein (IJV) and vertebral vein. The following four parameters were investigated: IJV stenosis, reversal of postural control of the cerebral venous outflow pathways, absence of detectable blood flow in the IJVs and/or vertebral veins, and reflux in the IJVs and/or vertebral veins in the sitting or supine position. In the study group, IJV stenosis, postural control reversal of the cerebral venous outflow pathways, and absence of flow in the IJVs and/or vertebral veins were found in 3 (6.8%), 2 (4.5%), and 3 (6.8%) patients, respectively. In the control group, IJV stenosis (P=0.12), postural control reversal of the cerebral venous outflow pathways (P=0.50), and absence of flow (P=0.12) were not detected. Abnormal reflux was found neither in multiple sclerosis patients nor in healthy subjects. No significant difference in the cerebral venous drainage through the IJV or vertebral vein was found between patients with multiple sclerosis and healthy subjects within any of the investigated ultrasonographic parameters

  4. 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...

  5. 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

  6. 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.

  7. Stabilization and Balance Exercise Benefits in Amyotrophic Lateral Sclerosis: A Case Report

    Directory of Open Access Journals (Sweden)

    Amin Kordi Yoosefinejad

    2014-06-01

    Full Text Available Background: ALS is the most devastating form of motor neuron disease, and the chance of survival is 3 to 5 years after the diagnosis is made. The pathogenesis of the disease is unknown. Several upper and lower motor neuron symptoms such as weakness, gait bradykinesia, and muscle atrophy have been reported. The core muscles are considered to be the center of the functional kinetic chain due to the links with upper and lower limbs. Methods: The patient in this case study was a 42 year-old woman suffering from ALSfor two years prior to the study. She had typical upper and lower motor symptoms, but her chief complaints were inability to walk, standing balance impairment, and a tendency to fall posteriorly. She performed core stabilization exercises, which were done three times per day. She was followed for three months. Results: Core stabilization exercises improved her quality of life, and she could walk independently after three months of exercise. In addition, her tendency toward falling posteriorly was completely alleviated. Conclusion: Core stabilization exercises were beneficial to the patient, and she was satisfied because her quality of life had improved.

  8. 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

  9. Suicide and multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E N; Stenager, Egon; Koch-Henriksen, Nils

    1992-01-01

    In a nationwide investigation the risk of death by suicide for patients with multiple sclerosis (MS) was assessed using records kept at the Danish Multiple Sclerosis Registry (DMSR) and the Danish National Register of Cause of Death. The investigation covers all MS patients registered with DSMR...... with an onset of the disease within the period 1953-85, or for whom MS was diagnosed in the same period. Fifty three of the 5525 cases in the onset cohort group committed suicide. Using the figures from the population death statistics by adjustment to number of subjects, duration of observation, sex, age......, and calendar year at the start of observation, the expected number of suicides was calculated to be nearly 29. The cumulative lifetime risk of suicide from onset of MS, using an actuarial method of calculation, was 1.95%. The standard mortality ratio (SMR) of suicide in MS was 1.83. It was highest for males...

  10. 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.

  11. Long-term effectiveness of combined cognitive-behavioral and neuropsychological intervention in a case of multiple sclerosis.

    Science.gov (United States)

    Martínez-González, Agustín Ernesto; Piqueras, José Antonio

    2015-01-01

    This study examines the long-term effectiveness of a combined cognitive-behavioral and neuropsychological intervention in a woman of 19 years old with multiple sclerosis, by evaluating functional neuroimaging, neuropsychological and psychometric testing. The results showed a partial improvement in some brain areas and brain inflammatory activity. There was an increase in attention, verbal memory, and nonverbal executive functioning as well as in the emotional state at posttest and one-year follow-up. This study indicates the need for including components of both cognitive-behavioral therapy and neuropsychological rehabilitation based on an individualized and tailored plan in standard treatments for multiple sclerosis. Future studies should further develop these contributions.

  12. Depression and anxiety in a case series of amyotrophic lateral sclerosis: frequency and association with clinical features.

    Science.gov (United States)

    Prado, Laura de Godoy Rousseff; Bicalho, Isabella Carolina Santos; Vidigal-Lopes, Mauro; Prado, Vitor de Godoy Rousseff; Gomez, Rodrigo Santiago; de Souza, Leonardo Cruz; Teixeira, Antônio Lúcio

    2017-01-01

    To investigate the frequency of anxiety and depression and their association with clinical features of amyotrophic lateral sclerosis. This is a cross-sectional and descriptive study including a consecutive series of patients with sporadic amyotrophic lateral sclerosis according to Awaji's criteria. Patients underwent clinical and psychiatric assessment (anxiety and depression symptoms). We included 76 patients. The men/women ratio was 1.6:1. Participants' mean age at disease onset was 55 years (SD±12.1). Sixty-six patients (86.8%) were able to complete psychiatric evaluation. Clinically significant anxiety was found in 23 patients (34.8%) while clinically significant depression was found in 24 patients (36.4%). When we compared patients with and without depression a significant difference was seen only in the frequency of anxiety symptoms (pescala funcional. Foi encontrada correlação positiva entre os sintomas de ansiedade e depressão (pescala funcional.

  13. Multiple sclerosis.

    Science.gov (United States)

    Thompson, Alan J; Baranzini, Sergio E; Geurts, Jeroen; Hemmer, Bernhard; Ciccarelli, Olga

    2018-03-22

    Multiple sclerosis continues to be a challenging and disabling condition but there is now greater understanding of the underlying genetic and environmental factors that drive the condition, including low vitamin D levels, cigarette smoking, and obesity. Early and accurate diagnosis is crucial and is supported by diagnostic criteria, incorporating imaging and spinal fluid abnormalities for those presenting with a clinically isolated syndrome. Importantly, there is an extensive therapeutic armamentarium, both oral and by infusion, for those with the relapsing remitting form of the disease. Careful consideration is required when choosing the correct treatment, balancing the side-effect profile with efficacy and escalating as clinically appropriate. This move towards more personalised medicine is supported by a clinical guideline published in 2018. Finally, a comprehensive management programme is strongly recommended for all patients with multiple sclerosis, enhancing health-related quality of life through advocating wellness, addressing aggravating factors, and managing comorbidities. The greatest remaining challenge for multiple sclerosis is the development of treatments incorporating neuroprotection and remyelination to treat and ultimately prevent the disabling, progressive forms of the condition. Copyright © 2018 Elsevier Ltd. All rights reserved.

  14. Multiple sclerosis

    International Nuclear Information System (INIS)

    Sadashima, Hiromichi; Kusaka, Hirofumi; Imai, Terukuni; Takahashi, Ryosuke; Matsumoto, Sadayuki; Yamamoto, Toru; Yamasaki, Masahiro; Maya, Kiyomi

    1986-01-01

    Eleven patients with a definite diagnosis of multiple sclerosis were examined in terms of correlations between the clinical features and the results of cranial computed tomography (CT), and magnetic resonance imaging (MRI). Results: In 5 of the 11 patients, both CT and MRI demonstrated lesions consistent with a finding of multiple sclerosis. In 3 patients, only MRI demonstrated lesions. In the remaining 3 patients, neither CT nor MRI revealed any lesion in the brain. All 5 patients who showed abnormal findings on both CT and MRI had clinical signs either of cerebral or brainstem - cerebellar lesions. On the other hand, two of the 3 patients with normal CT and MRI findings had optic-nerve and spinal-cord signs. Therefore, our results suggested relatively good correlations between the clinical features, CT, and MRI. MRI revealed cerebral lesions in two of the four patients with clinical signs of only optic-nerve and spinal-cord lesions. MRI demonstrated sclerotic lesions in 3 of the 6 patients whose plaques were not detected by CT. In conclusion, MRI proved to be more helpful in the demonstration of lesions attributable to chronic multiple sclerosis. (author)

  15. 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

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

    Indian Academy of Sciences (India)

    PRAKASH

    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 this species. [Das P D, Raina R, ..... The ability of both males and females to detect the odours presented is probably due ...

  17. Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect?

    Directory of Open Access Journals (Sweden)

    Koneru Lakshmi Umamaheshwar

    2013-01-01

    Full Text Available Klippel-Feil syndrome (KFS is an unusual skeletal disorder characterized by congenital fusion of two or more cervical vertebrae which can be sporadic or familial. KFS emerges to be a failure of the normal segmentation and fusion of the mesodermal somites during 3 rd and 8 th weeks of embryonic development. The triad of low posterior hairline, short neck, and restricted neck motion is present only in 50% and often associated with scoliosis, spina bifida, Sprengel′s deformity, cervical ribs, deafness, cleft palate, renal anomalies, congenital heart defects, and so on because of heterogeneous nature of the disease. The significance of KFS lies in the secondary effects produced on the nervous system, which usually presents with features of progressive cord and brain stem compression with relatively minor trauma. We here report two cases of KFS presented in association with amyotrophic lateral sclerosis. Only two such cases have been described in the literature in 1954 and 1975.

  18. ALS (Amyotrophic Lateral Sclerosis)

    Science.gov (United States)

    ... here Home » Disorders » Patient & Caregiver Education » Fact Sheets Amyotrophic Lateral Sclerosis (ALS) Fact Sheet What is amyotrophic lateral sclerosis? Who ... Where can I get more information? What is amyotrophic lateral sclerosis? Amyotrophic lateral sclerosis (ALS) is a group of ...

  19. Potential aromatic compounds as markers to differentiate between Tuber melanosporum and Tuber indicum truffles.

    Science.gov (United States)

    Culleré, Laura; Ferreira, Vicente; Venturini, María E; Marco, Pedro; Blanco, Domingo

    2013-11-01

    The Tuber indicum (Chinese truffle) and Tuber melanosporum (Black truffle) species are morphologically very similar but their aromas are very different. The black truffle aroma is much more intense and complex, and it is consequently appreciated more gastronomically. This work tries to determine whether the differences between the aromatic compounds of both species are sufficiently significant so as to apply them to fraud detection. An olfactometric evaluation (GC-O) of T. indicum was carried out for the first time. Eight important odorants were identified. In order of aromatic significance, these were: 1-octen-3-one and 1-octen-3-ol, followed by two ethyl esters (ethyl isobutyrate and ethyl 2-methylbutyrate), 3-methyl-1-butanol, isopropyl acetate, and finally the two sulfides dimethyldisulfide (DMDS) and dimethylsulfide (DMS). A comparison of this aromatic profile with that of T. melanosporum revealed the following differences: T. indicum stood out for the significant aromatic contribution of 1-octen-3-one and 1-octen-3-ol (with modified frequencies (MF%) of 82% and 69%, respectively), while in the case of T. melanosporum both had modified frequencies of less than 30%. Ethyl isobutyrate, ethyl 2-methylbutyrate and isopropyl acetate were also significantly higher, while DMS and DMDS had low MF (30-40%) compared to T. melanosporum (>70%). The volatile profiles of both species were also studied by means of headspace solid-phase microextraction (HS-SPME-GC-MS). This showed that the family of C8 compounds (3-octanone, octanal, 1-octen-3-one, 3-octanol and 1-octen-3-ol) is present in T. indicum at much higher levels. The presence of 1-octen-3-ol was higher by a factor of about 100, while 1-octen-3-one was detected in T. indicum only (there was no chromatographic signal in T. melanosporum). As well as showing the greatest chromatographic differences, these two compounds were also the most powerful from the aromatic viewpoint in the T. indicum olfactometry. Therefore

  20. Carnitine deficiency presenting with a decreased mental state in a patient with amyotrophic lateral sclerosis receiving long-term tube feeding: a case report.

    Science.gov (United States)

    Isse, Naohi; Miura, Yoh; Obata, Toshiyuki; Takahara, Noriko

    2013-12-30

    L-carnitine is an important metabolic mediator involved in fatty acid transport. It is obtained from the diet, particularly from animal products, such as red meat. Previous reports have revealed that long-term tube feeding with a commercial product containing no or low levels of carnitine can lead to an altered mental state caused by hyperammonemia. A 72-year-old Japanese man had a 12-year history of amyotrophic lateral sclerosis. He was bedridden and had required mechanical ventilation and enteral tube feeding for 10 years at home. His main enteral solution was a commercial product that contained low carnitine levels, and he sometimes received coffee and homemade products such as miso soup. Our patient's ability to communicate gradually deteriorated over a period of one year. His serum total carnitine level was abnormally low, at 26.7μmol/L (normal range, 45 to 91μmol/L), but his ammonium level was normal. His mental state improved dramatically after starting L-carnitine supplementation (600mg twice daily). This case highlights the importance of avoiding carnitine deficiency in patients with amyotrophic lateral sclerosis undergoing long-term tube feeding. These patients experience progressive muscle atrophy that might cause impaired carnitine storage and might manifest as communication difficulties. Carnitine deficiency can be misdiagnosed as a progression of systemic muscle atrophy. Clinicians should be aware of this disorder and should consider periodically measuring carnitine levels, regardless of the patient's serum ammonium levels.

  1. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    Science.gov (United States)

    Bakare, Muideen O; Ikegwuonu, Nkeiruka N

    2008-01-01

    Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa. Conclusion The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism. PMID:18294379

  2. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    Directory of Open Access Journals (Sweden)

    Bakare Muideen O

    2008-02-01

    Full Text Available Abstract Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa. Conclusion The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism.

  3. Mutation breeding in root and tuber crops, a review

    International Nuclear Information System (INIS)

    Kukimura, Hisashi

    1988-01-01

    Some breeders argue that mutation breeding is hard to practice because the low frequency of positive mutation which displays useful characters. The effective application of mutation breeding onto root and tuber crops requires clonal progenies developing on a large scale. In most of the successful cases to obtain the desired mutation in such crops, more than thousands of vM 2 materials were dealt with. Even in the conventional cross breeding of potatoes or sweet potatoes, more than ten thousands of F 1 seedlings per year are subjected to the selection at each practical breeding unit. Thus only a single segregant selected over several years may be released as a registered cultivar. Howard (1970) reckoned that in potatoes, the chance of any seedling becoming a useful variety is about one in ten thousand, and in the breeding program using wild species, as low as one in a hundred thousand. In the conventional cross breeding of sweet potatoes carried out for 35 years, the probability of true seeds becoming a useful cultivar is estimated to be 1.37 x 10 -5 . The practical works of mutation breeding in root and tuber crops are still in premature stage, and yet any successful mutant cultivar cannot be found throughout the world. (Kako, I.)

  4. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, Egon; Stenager, E N; Knudsen, Lone

    1994-01-01

    In a cross-sectional study of 117 randomly selected patients (52 men, 65 women) with definite multiple sclerosis, it was found that 76 percent were married or cohabitant, 8 percent divorced. Social contacts remained unchanged for 70 percent, but outgoing social contacts were reduced for 45 percent....... Ninety-five percent lived in own house or flat and 70 percent received disablement pension. More than half of the patients (56.4 percent) were dependent on help from close relatives, most frequently spouse. The need for help, the risk of divorce, loss of contact with relatives, difficulty in going out...

  5. Fetal cardiac rhabdomyoma: case report

    Directory of Open Access Journals (Sweden)

    Seyed Mostafa Ghavami

    2016-07-01

    Full Text Available Background: The primary manifestation of cardiac tumors in embryonic period is a very rare condition. Cardiac rhabdomyomas most frequently arise in the ventricular myocardium, they may also occur in the atria and the epicardial surface. In spite of its benign nature, the critical location of the tumor inside the heart can lead to lethal arrhythmias and chamber obstruction. Multiple rhabdomyomas are strongly associated with tuberous sclerosis which is associated with mental retardation and epilepsy of variable severity. Ultrasonography as a part of routine prenatal screening, is the best method for the diagnosis of cardiac rhabdomyomas. In the review of articles published in Iran, fetal cardiac rhabdomyoma was not reported. Case presentation: We report a case of cardiac rhabdomyoma on a 24-year-old gravid 1, referred to Day Medical Imaging Center for routine evaluation of fetal abnormalities at 31 weeks of her gestational age. Ultrasonographic examination displayed a homogenous echogenic mass (13×9mm, originating from the left ventricle of the fetal heart. It was a normal pregnancy without any specific complications. Other organs of the fetus were found normal and no cardiac abnormalities were appeared. No Pericardial fluid effusion was found. The parents did not have consanguineous marriage. They did not also have any specific disease such as tuberous sclerosis. Conclusion: The clinical features of cardiac rhabdomyomas vary widely, depending on the location, size, and number of tumors in the heart. Although cardiac rhabdomyoma is a benign tumor in many affected fetuses, an early prenatal diagnosis of the tumor is of great significance in making efficient planning and providing adequate follow up visits of the patients and the complications such as, heart failure and outlet obstruction of cardiac chambers.

  6. Intrathecal Baclofen Injection to Avoid Withdrawal in a Multiple Sclerosis Patient Undergoing Lumbar Spine Surgery: A Case Report.

    Science.gov (United States)

    Dupanovic, Mirsad; Devine, Robert P; Jackson, Sean R; Lynch, Sharon G

    2017-11-09

    Spasticity of spinal or cerebral origin is frequently treated with baclofen. Treatment interruption initially results in rebound spasticity; life-threatening withdrawal symptoms may follow. Severe rebound spasticity of leg muscles occurred in a multiple sclerosis patient after a 10-hour long perioperative pause of oral baclofen intake. In a subsequent spine surgery, recurrence was prevented by substituting a cumulative 12-hour oral baclofen dose with an intraoperative intrathecal injection. Administration of intrathecal baclofen during prolonged surgery in patients dependent on oral baclofen may improve patient comfort and prevent early withdrawal symptoms. The most optimal conversion ratio from oral to intrathecal baclofen is still undetermined.

  7. The danish multiple sclerosis registry

    DEFF Research Database (Denmark)

    Brønnum-Hansen, Henrik; Koch-Henriksen, Nils; Stenager, Egon

    2011-01-01

    Introduction: The Danish Multiple Sclerosis (MS) Registry was established in 1956. Content: The register comprises data on all Danes who had MS in 1949 or who have been diagnosed since. Data on new cases and updated information on persons with an MS diagnosis already notified are continuously...

  8. Cavernous angioma associated with ipsilateral hippocampal sclerosis

    International Nuclear Information System (INIS)

    Okujava, M.; Ebner, A.; Schmitt, J.; Woermann, F.G.

    2002-01-01

    We report two cases with extratemporal cavernous angioma (CA) and coexisting ipsilateral hippocampal sclerosis. Classically dual pathology is defined as the association of hippocampal sclerosis with an extrahippocampal lesion. Subtle changes in hippocampus might be overlooked in the presence of an unequivocal extrahippocampal abnormality. Seizure outcome after epilepsy surgery in cases with dual pathology is less favourable if only one of the lesions is removed. Dual pathology must always be considered in diagnostic imaging of patients with intractable epilepsy and CA. (orig.)

  9. The cardiac magnetic resonance in the diagnosis of cardiac Raynaud phenomenon in a patient with systemic sclerosis: case report and review of literature.

    Science.gov (United States)

    Quarta, Silvia; Galea, Nicola; Gigante, Antonietta; Romaniello, Antonella; Rosato, Edoardo; Carbone, Iacopo

    2016-01-01

    Raynaud phenomenon (RP) is the hallmark of Systemic Sclerosis (SSc). Visceral RP has also been proposed in SSc patients. Cardiac Raynaud's phenomenon (C-RP) was evaluated in a few clinical studies both as cold-induced transient myocardial ischaemia and as presence of advanced myocardial fibrosis and contraction band necrosis in autopsied patients. Until today numerous techniques, such as scintigraphy and myocardial contrast echocardiography, have been used to evaluate C-RP. In this case report for the first time we have used Cardiac Magnetic Resonance (CMR) after cold test to demonstrate the presence of the C-RP. In addition we have shown that therapy with Iloprost can be used to reduce episodes of C-RP.

  10. Pulmonary veno-occlusive disease: a rare cause of pulmonary hypertension in systemic sclerosis. Case presentation and review of the literature .

    Science.gov (United States)

    Daraban, Ana Maria; Enache, Roxana; Predescu, L; Platon, P; Constantinescu, T; Mihai, Carina; Coman, I M; Ginghina, Carmen; Jurcuţ, Ruxandra

    2015-01-01

    Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary arterial hypertension (PAH). Because of the similar clinical picture of dyspnea on exertion and signs of right heart failure, PVOD is difficult to distinguish from idiopathic PAH. However, the distinction is mandatory because PVOD has a worse prognosis and, more importantly, the administration of PAH specific therapy (vasodilators) can precipitate severe acute pulmonary oedema. We present a challenging case of PAH in a patient with systemic sclerosis in whom a marked decrease in functional capacity after the initiation of bosentan therapy led to the diagnosis of PVOD. Management of PVOD patients is challenging and referral for lung transplantation should be done at the moment of diagnosis.

  11. Identification of Armillaria nabsnona in gastrodia tubers.

    Science.gov (United States)

    Sekizaki, Haruo; Kuninaga, Shiro; Yamamoto, Mizuho; Asazu, Sandra Naomi; Sawa, Satoko; Kojoma, Mareshige; Yokosawa, Ryozo; Yoshida, Naotoshi

    2008-07-01

    The symbiosis between Armillaria species and an achlorophylous orchid Gastrodia elata BLUME has been reported. The main species described as a symbiont is Armillaria mellea (VAHL: FR.) KUMMER, known widely as a primary root rot pathogen. Samples collected from the rhizomorphs attached to the tuber of G. elata were separated and analyzed. Molecular analysis based on sequencing of the intergenic spacer 1 (IGS-1) and internal transcribed spacer (ITS) regions of the ribosomal DNA (rDNA) was performed, coupled with restriction fragment length polymorphism (RFLP) of the IGS-1 region. Cultural morphology and features of basidiomata were also used to characterize the isolates. Phylogenetic analysis and morphological data strongly suggested that the fungus present in the tubers of G. elata is Armillaria nabsnona. This is the first report of occurrence of this Armillaria species in association with G. elata.

  12. 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.

  13. Pilot scale fermentation of Jerusalem artichoke tuber pulp mashes

    Energy Technology Data Exchange (ETDEWEB)

    Ziobro, G.C.; Williams, L.A.

    1983-01-01

    Processing and fermentation of Jerusalem artichoke (Helianthus tuberosus L.) tuber pulp mashes were successfully carried out at pilot scales of 60 gallons and 1000 gallons. Whole tubers were pulped mechanically into a thick mash and fermented, using commercially available Saccharomyces cerevisiae and selected strains of Kluyveromyces fragilis. EtOH fermentation yields ranging from 50-70% of theoretical maximum were obtained in 3-4 days. Several problems regarding the processing and direct fermentation of tuber pulp mashes are discussed.

  14. 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.

  15. 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...... vaccine against yellow fever, vaccinations appear safe in untreated patients with MS and ON. However, most studies were underpowered, and small risks cannot be excluded. One study of BCG vaccination after the first demyelinating event showed even a reduced risk of developing MS. Further studies are needed...

  16. Everolimus treatment of a newborn with rhabdomyoma causing severe arrhythmia.

    Science.gov (United States)

    Öztunç, Funda; Atik, Sezen U; Güneş, Aslı O

    2015-10-01

    Rhabdomyoma is the most common cardiac tumour in children often associated with tuberous sclerosis. Arrhythmia caused by cardiac rhabdomyomas may be the initial sign of tuberous sclerosis. Rhabdomyomas unresponsive to other treatments could be successfully managed with everolimus, which has demonstrated benefit in tuberous sclerosis. We report a case of rhabdomyoma causing severe arrhythmia in a newborn managed successfully with everolimus.

  17. Multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E; Knudsen, L; Jensen, K

    1994-01-01

    a significant correlation between results of an attention and perceptual motor speed test i.e. Symbol Digit Modalities test and the ability to read TV-subtitles, but no correlation was found with another attention and perceptual motor speed test, or verbal or visual memory. No correlation between the use......In a cross-sectional study of 94 patients (42 males, 52 females) with definite multiple sclerosis (MS) in the age range 25-55 years, the correlation of neuropsychological tests with the ability to read TV-subtitles and with the use of sedatives is examined. A logistic regression analysis reveals...... of sedatives and results on neuropsychological tests was found. Anxiety was not correlated with the ability to read TV-subtitles. It is concluded that visual deficits but not the use of sedatives may be a confounding factor in neuropsychological testing in MS....

  18. Bone mineral density, bone turnover markers and fractures in patients with systemic sclerosis: a case control study.

    Directory of Open Access Journals (Sweden)

    Marco Atteritano

    Full Text Available OBJECTIVE: The aim of our study was to elucidate the pathophysiology of systemic sclerosis-related osteoporosis and the prevalence of vertebral fragility fracture in postmenopausal women with systemic sclerosis (SSc. METHODOLOGY: Fifty-four postmenopausal women with scleroderma and 54 postmenopausal controls matched for age, BMI, and smoking habits were studied. BMD was measured by dual energy-x-ray absorptiometry at spine and femur, and by ultrasonography at calcaneus The markers of bone turnover included serum osteocalcin and urinary deoxypyridinoline. All subjects had a spine X-ray to ascertain the presence of vertebral fractures. RESULTS: bone mineral density at lumbar spine (BMD 0.78±0.08 vs 0.88±0.07; p<0,001, femoral neck (BMD: 0.56±0.04 vs 0.72±0.07; p<0,001 and total femur (BMD: 0.57±0.04 vs 0.71±0.06; p<0,001 and ultrasound parameter at calcaneus (SI: 80.10±5.10 vs 94.80±6.10 p<0,001 were significantly lower in scleroderma compared with controls; bone turnover markers and parathyroid hormone level were significantly higher in scleroderma compared with controls, while serum of 25(OHD3 was significantly lower. In scleroderma group the serum levels of 25(OHD3 significantly correlated with PTH levels, BMD, stiffness index and bone turnover markers. One or more moderate or severe vertebral fractures were found in 13 patients with scleroderma, wherease in control group only one patient had a mild vertebral fracture. CONCLUSION: Our data shows, for the first time, that vertebral fractures are frequent in subjects with scleroderma, and suggest that lower levels of 25(OHD3 may play a role in the risk of osteoporosis and vertebral fractures.

  19. Erasmus Syndrome: Silicosis and Systemic Sclerosis.

    Science.gov (United States)

    Jain, Shubhra; Joshi, Vinod; Rathore, Yogendra S; Khippal, Narendra

    2017-01-01

    Several occupational hazards, especially exposure to silica, have been implicated as causal factors for the development of scleroderma-like disorders. Compared to other connective tissue disorders, silica-associated systemic sclerosis (SA-SS) is relatively rare. Silica-induced scleroderma is indistinguishable from idiopathic systemic sclerosis. However, the former expresses a high predisposition of pulmonary involvement and anti-Scl-70 antibody. We report the case of a 42-year-old male, stone cutter by occupation, who was diagnosed as simple chronic silicosis and developed systemic sclerosis.

  20. Multiple sclerosis - discharge

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000129.htm Multiple sclerosis - discharge To use the sharing features on this ... Your doctor has told you that you have multiple sclerosis (MS). This disease affects the brain and spinal ...

  1. 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...

  2. Evaluation of Some Botanicals to Control Potato Tuber Moth ...

    African Journals Online (AJOL)

    ... in all treatments and non-significant differences were observed among them. From this study it can be conclude that Lantana camara, Eucalyptus globules and Pyretherum flowers could be used to protect seed potatoes from potato tuber moth damage in diffused light storage. Keywords: Seed Potato; Potato Tuber Moth; ...

  3. Influence of Treatment of Seed Potato Tubers with Plant Crude ...

    African Journals Online (AJOL)

    A pot experiment was conducted at Sirinka Agricultural Research Centre, in north eastern Ethiopia, to evaluate the effect of treating seed potato tubers with crude plant essential oil extracts, on the growth and yield of the potato crop. Treatments consisted of seed potato tubers treated with dill weed, spearmint, black cumin ...

  4. 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...

  5. 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

  6. Cell cycle and storage related gene expression in potato tubers

    NARCIS (Netherlands)

    Verhees, J.

    2002-01-01

    Potato tubers are vegetative structures aimed at survival of the period when conditions are not optimal for the growth of the potato plant. Understanding the process of tuber formation in potatoes ( Solanum tuberosum ) is important, both from a scientific view, and for

  7. 605 Salad crops: Root, bulb, and tuber Crops

    Science.gov (United States)

    Root and tuber crops (potato, cassava, sweet potato, and yams) comprise 4 of the 10 major food staples of the world and serve as a major source of energy for the poor of developing nations. Minimal strain placed on agro ecosystems by root and tuber crops highlight their welcomed contribution to the ...

  8. A spatial analysis of amyotrophic lateral sclerosis (ALS) cases in the United States and their proximity to multidisciplinary ALS clinics, 2013.

    Science.gov (United States)

    Horton, D Kevin; Graham, Shannon; Punjani, Reshma; Wilt, Grete; Kaye, Wendy; Maginnis, Kimberly; Webb, Lauren; Richman, Judy; Bedlack, Richard; Tessaro, Edward; Mehta, Paul

    2018-02-01

    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease that typically results in death within 2-5 years of initial symptom onset. Multidisciplinary ALS clinics (MDCs) have been established to provide specialty care to people living with the disease. To estimate the proximity of ALS prevalence cases to the nearest MDC in the US to help evaluate one aspect of access to care. Using 2013 prevalence data from the National ALS Registry, cases were geocoded by city using geographic information system (GIS) software, along with the locations of all MDCs in operation during 2013. Case-to-MDC proximity was calculated and analyzed by sex, race, and age group. During 2013, there were 72 MDCs in operation in 30 different states. A total of 15,633 ALS cases were geocoded and were distributed throughout all 50 states. Of these, 62.6% were male, 77.9% were white, and 76.2% were 50-79 years old. For overall case-to-MDC proximity, nearly half (44.9%) of all geocoded cases in the US lived >50 miles from an MDC, including approximately a quarter who lived >100 miles from an MDC. There was a statistically significant difference between distance to MDC by race and age group. The high percentage of those living more than 50 miles from the nearest specialized clinic underscores one of the many challenges of ALS. Having better access to care, whether at MDCs or through other modalities, is likely key to increasing survivability and obtaining appropriate end-of-life treatment and support for people with ALS.

  9. Discordant lymphoma consisting of mediastinal large B-cell lymphoma and nodular sclerosis Hodgkin lymphoma in the right supraclavicular lymph nodes: a case report.

    Science.gov (United States)

    Zhang, Chun; Yi, Yuanxue; Chen, Chunyan; Wang, Jianrong; Liu, Zhu

    2015-12-29

    Discordant lymphoma is defined by the simultaneous presence of two or more distinct types of lymphomas at different anatomic sites. With fewer than 20 studies reporting cases of discordant lymphoma to date, the incidence of this condition is believed to be very low. Here, we report a case of discordant lymphoma in a 34-year-old female patient that involved mediastinal large B-cell lymphoma and nodular sclerosis Hodgkin lymphoma in the right supraclavicular lymph nodes. The patient presented with a mass in the mediastinum and enlargement of the right supraclavicular lymph nodes, but no obvious signs of lymphoma. Histological examination revealed that the encapsulated mediastinal mass contained medium- or large-size tumor cells with lightly stained cytoplasm and round vesicular nuclei as well as a high percentage of mitotic cells; strongly positive immunohistochemical staining for PAX5, CD20, and CD79a also was observed. Examination of biopsied right supraclavicular lymph node tissues revealed separation by collagen fibers, extensive inflammatory cell infiltration, and large-size tumor cells, such as Reed-Sternberg cells. These tissues stained strongly positive for PAX5 and CD30, weakly positive for CD15, and negative for Epstein-Barr viral RNA. We also found monoclonal gene rearrangement in the immunoglobulin heavy chain gene in the mediastinal large B-cell lymphoma, but no monoclonal gene rearrangement in the nodular sclerosis Hodgkin lymphoma. These findings suggested that these two lymphomas were not of a common clonal origin. The patient was treated by surgical excision of the mediastinal mass followed by radio-chemotherapy, and no metastasis or recurrence occurred during a follow-up period of 32 months. A review of previously reported cases indicated that the clinical manifestations and pathological features of discordant lymphoma are diverse due to variation in the types of lymphomas involved. Physicians must have an awareness of discordant lymphoma to avoid

  10. Sprout inhibition in roots, tubers and bulbs

    International Nuclear Information System (INIS)

    Luna C, P.C.

    1992-05-01

    The treatment with ionizing radiations to low dose impedes that appear sprouts in the tubers (potatoes); bulbs (onion and garlic) and in roots like the ginger and the yucca. The purpose is to inhibit the germination during the process of manipulation and storage, and this way to avoid the lost ones post crop of these products. The radiation dose required to inhibit the germination goes to depend of: the development conditions, the differences of variety, of the storage state of the bulbs and the conditions of cured and storage. (Author)

  11. Polymorphic locus rs10492972 of the KIF1B gene association with multiple sclerosis in Russia: case control study.

    Science.gov (United States)

    Kudryavtseva, Ekaterina A; Rozhdestvenskii, Aleksei S; Kakulya, Anastasia V; Khanokh, Elena V; Delov, Roman A; Malkova, Nadezhda A; Korobko, Denis S; Platonov, Fedor A; Aref Eva, Elena G; Zagorskaya, Natalia N; Aliferova, Valentina M; Titova, Marina A; Babenko, Sergei A; Smagina, Inna V; El Chaninova, Svetlana A; Zolovkina, Anna G; Lifshits, G I; Puzyrev, Valerii P; Filipenko, Maxim L

    2011-11-01

    Axonal degeneration is responsible for the progression of the irreversible destruction caused by multiple sclerosis (MS) resulting ultimately in permanent disability. The KIF1B protein, a member of the kinesin family, is necessary for axon growth and myelination in vertebrates. In the recent paper, Aulchenko et al. suggested that the rs10492972[C] variant of KIF1B increases susceptibility to MS, but three following replication study didn't confirm this association. We studied the association of the polymorphic locus rs10492972 present in the KIF1B gene with genetic predisposition and its occurrence in clinical presentations of MS patients resident in western Siberia and the Sakha Republic (Yakutia), Russia. rs10492972 has been genotype in 833 samples of MS patient and 689 healthy controls. Distribution of rs10492972 genotypes corresponded with a Hardy-Weinberg distribution in both the MS patient and control groups, with the frequency of the C allele being the same in both groups (33%). Frequencies of occurrence of the genotypes were not shown to be associated with different disease courses or other characteristics of the disease, such as age at onset or duration. A complete meta-analysis of all analogous studies published to date showed that the protective effect of the rs10492972[C] allele is statistically significant (OR=0.95, C.I.95% [0.90-0.99], p=0.02). Copyright © 2011. Published by Elsevier Inc.

  12. [Fingolimod compassionate use program: case study on the concept of a therapy option for multiple sclerosis prior to marketing approval].

    Science.gov (United States)

    Haas, J; Linker, R A; Hartung, H P; Meergans, M; Ortler, S; Tracik, F

    2012-12-01

    In order to meet the needs of therapy of multiple sclerosis (MS) new immune therapies with a user-friendly application and better effectiveness together with good tolerability are necessary. With respect to its potential to improve MS therapy, patients with a high medical need were given access to Fingolimod even before marketing approval. Therefore, a compassionate use program unique in the field of MS was initiated. In total 137 centers participated (75 % outpatient neurologists and 25 % hospitals). Within 19 weeks 135 patients were enrolled to receive Fingolimod. The patients in the compassionate use program can be representatively described as showing hardly controllable disease activity and progression with currently available, often poorly tolerated therapy. The compassionate use program for these patients offered better control of the disease with Fingolimod. The adverse events were as expected. The Fingolimod compassionate use program demonstrated the need for this new therapeutic option. Patients who were not yet sufficiently treated were provided with an effective therapy with a good safety profile and a user-friendly administration form.

  13. Central auditory evaluation in multiple sclerosis: case report Avaliação auditiva central na esclerose múltipla: relato de caso

    Directory of Open Access Journals (Sweden)

    Eliane Schochat

    2006-09-01

    Full Text Available Herein, we report a case of multiple sclerosis in which peripheral and central hearing, were evaluated through early (brainstem, middle and late auditory evoked potentials before and after corticosteroid therapy. Auditory evaluation revealed better performance on all post-treatment tests. In this case, central auditory function tests (behavioral and electrophysiological identified the location of the impairment (brainstem, which was in agreement with the patient complaint. The speech in noise test and brainstem auditory evoked potentials are definitely appropriate in confirming brainstem lesions.Relatamos caso de esclerose múltipla em que foi feita avaliação da audição periférica e central utilizando os potenciais evocados auditivos de curta, média e longa latência antes e depois da terapia com corticosteróides. A avaliação auditiva revelou melhor desempenho em todos os testes após o tratamento. Neste caso, os testes que avaliam a função central da audição (comportamental e eletrofisiológico foram capazes de identificar o local da lesão (tronco encefálico, o que estava de acordo com as queixas do paciente. Os testes de fala com ruído e os potenciais evocados auditivos de curta latência são apropriados para revelar lesões de tronco encefálico.

  14. Update on Hippocampal Sclerosis.

    Science.gov (United States)

    Dutra, Juliana R; Cortés, Etty P; Vonsattel, Jean Paul G

    2015-10-01

    The diagnostic hallmarks of hippocampal sclerosis (HS) are severe volume loss of the hippocampus, severe neuronal loss, and reactive gliosis involving primarily two especially vulnerable fields, CA1 and the subiculum. Occasionally, HS may be the only neuropathological change detected in older individuals with dementia and is known as pure HS. In the majority of cases, HS occurs in the setting of other degenerative changes, usually Alzheimer's disease (AD). In these cases, it is classified as combined HS. Although a clinical profile for HS has been identified, its similarities with AD make the diagnosis during life quite challenging; thus, the diagnosis is often made postmortem. The pathogenesis of HS is not completely understood, but the strong association with transactive response DNA-binding protein 43 (TDP-43), in approximately 90%, and the recent discovery of genetic risk factors are important contributions to a better understanding of the disease process.

  15. Idiopatic Osteo Sclerosis

    Directory of Open Access Journals (Sweden)

    MM Salari

    2004-10-01

    Full Text Available Introduction: The term of idiopatic osteosclerosis (I.O have been used to describe a localised area of radiopacity of unknown origin. The condition is usually asymptomatic and discovered on a radiograph taken for other reason. The radiopacity is variable in size, shape, outline and density. The purpose of this investigation was to determine the frequncy, age and sex distribution and anatomic location of I.O and its relation to history of extraction of decidious teeth. Materials and Methods: Standard panoramic radiographs of 917 patients(494 female & 423 male were examined at the Department of oral and maxillofacial radiology, Yazd dental college and private clinic. The age, sex as well as the anatomic location of I.O is outlined I.O mass were observed in patients. The radiographs was studies carefully by oral radiologist and sclerosis mass place was marked then clinical examination was done. Results: In total 54 sclerosis mass in 52 mandibuls were observed According to the location of lesions premolars of lower jaws was higher than other (59.6% in female & 40.4% in male P=0.392. Most of cases were occurred in 3rd & forth decade of life (P=0.018. The most prevalence areas were premolar/ molar/ between firstmolar second premolar/ between canin & first premolar. Conclusion: According to the our finding that the most prevalence was belogned to sclerotic mass that was not related to the root, the developing theory in a cause of mass that seems to be accepted.

  16. Prevalence of epilepsy in a case series of multiple sclerosis patients Prevalência de epilepsia numa coorte de pacientes com esclerose múltipla

    Directory of Open Access Journals (Sweden)

    Cynthia Dumas Viveiros

    2010-10-01

    Full Text Available OBJECTIVE: The prevalence of epilepsy in multiple sclerosis (MS patients has been a subject of interest for some years. The objectives of this study were to describe the clinical, radiological and electroencephalographic characteristics of epileptic seizures and to calculate the prevalence of epilepsy in a case series of MS patients. METHOD: Medical charts of MS patients were reviewed and patients who had suffered epileptic seizures were identified. RESULTS: Of 160 cases analyzed, 5 had suffered epileptic seizures and one had comorbid mesial hippocampal sclerosis, confirmed by magnetic resonance imaging in a patient with complex partial seizures that began fifteen years prior to her diagnosis of MS. In the other four patients, seizures occurred both during the acute phase of the disease and in the chronic phase. CONCLUSION: The prevalence of epileptic seizures in MS patients in this study was 2.5%, similar to that found in other studies.OBJETIVO: A prevalência da epilepsia em pacientes com esclerose múltipla (EM tem sido objeto de interesse há vários anos. Os objetivos deste estudo foram descrever as características clínicas, radiológicas e eletroencefalográficas das crises epilépticas e estimar a prevalência de epilepsia na EM numa série de casos. MÉTODO: Foram revisados prontuários de pacientes com EM e identificados os casos que apresentaram crise epiléptica. RESULTADOS: Dos 160 casos analisados, cinco apresentaram crise epiléptica, sendo que, um caso, houve a presença de comorbidade com esclerose mesial do hipocampo, comprovada através de ressonância magnética numa paciente com crises parciais complexas iniciadas quinze anos antes do diagnóstico de EM. Nos outros quatro pacientes, as crises ocorreram tanto na fase aguda da doença, como na fase crônica. CONCLUSÃO: A prevalência de crises epiléticas nos pacientes com EM neste estudo foi de 2,5%, semelhante à encontrada em outros estudos.

  17. 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

  18. 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

  19. Design of a Randomised Controlled Trial (RCT on the effectiveness of a Dutch patient advocacy case management intervention among severely disabled Multiple Sclerosis patients

    Directory of Open Access Journals (Sweden)

    Annema Coby

    2010-05-01

    Full Text Available Abstract Background Case management has been suggested as an innovative strategy that facilitates the improvement of a patient's quality of life, reduction of hospital length of stay, optimization of self-care and improvement of satisfaction of patients and professionals involved. However, there is little evidence about the effectiveness of the patient advocacy case management model in clinical practice. Therefore, the objective of our study was to examine the effects of the Dutch patient advocacy case management model for severely disabled Multiple Sclerosis (MS patients and their caregivers compared to usual care. Methods/design In this randomized controlled trial the effectiveness of casemanagement on quality of life of patients and their caregivers, quality of care, service use and economic aspects were evaluated. The primary outcomes of this study were quality of life of MS-patients and caregiver burden of caregivers. Furthermore, we examined quality of life of caregivers, quality of care, service use and costs. Discussion This is a unique trial in which we examined the effectiveness of case management from a broad perspective. We meticulously prepared this study and applied important features and created important conditions for both intervention and research protocol to increase the likelihood of finding evidence for the effectiveness of patient advocacy case management. Concerning the intervention we anticipated to five important conditions: 1 the contrast between the case management intervention compared to the usual care seems to be large enough to detect intervention effects; 2 we included patients with complex care situations and/or were at risk for critical situations; 3 the case managers were familiar with disease specific health-problems and a broad spectrum of solutions; 4 case managers were competent and authorized to perform a medical neurological examination and worked closely with neurologists specialized in MS; and 5 the

  20. Amyotrophic lateral sclerosis with dementia: case report Esclerose lateral amiotrófica com demência: relato de caso

    Directory of Open Access Journals (Sweden)

    PAULO ROBERTO DE BRITO-MARQUES

    1999-06-01

    Full Text Available A patient is described in whom a profound and rapidly progressive dementia occurred in association with clinical features of amyotrophic lateral sclerosis. A magnetic resonance imaging showed signs of frontal and especially left temporal atrophy. The pattern of dementia indicated impaired frontotemporal lobe functions, evidenced by reduced tracer uptake in the frontotemporal lobes on brain single photon emission computed tomography. Neuropathological examination in this patient revealed mild frontotemporal atrophy with spongiform changes and neuronal loss affecting mainly layers II and III of the frontotemporal cortices. There was atrophy of the hypoglossal nuclei. The spinal cord changes were consistent with motor neuron disease. The patient showed an irreversible and progressive course. A review of the relevant literature was made.Demência de evolução rápida e progressiva associada com esclerose lateral amiotrófica ocorreu em uma paciente de 68 anos. A ressonância magnética mostrou sinais de atrofia frontal e, principalmente, temporal bilateral mais acentuada à esquerda. A demência se caracterizou como de tipo fronto-temporal, como sugere por hipoperfusão moderada nos lobos fronto-temporais através da tomografia cerebral computadorizada por emissão de fóton simples. O exame neuropatológico revelou atrofia leve fronto-temporal com alterações esponjiformes e perda neuronal afetando principalmente as camadas II e III dos córtices fronto-temporais. Havia importante perda de neurônios em ambos os núcleos do hipoglosso. A medula espinhal mostrou alterações consistentes com doença do neurônio motor. O caso teve curso de quatro anos até o óbito.

  1. Differential expression of genes in potato tubers after wounding.

    Science.gov (United States)

    Logemann, J; Mayer, J E; Schell, J; Willmitzer, L

    1988-02-01

    Tubers of a common tetraploid species of Solanum tuberosum (Granola) were mechanically wounded by slicing. After 18 hr only small differences were detectable in the pattern of the steady-state protein extracted from wounded versus unwounded tubers. In contrast the protein pattern obtained by in vitro translation of mRNA isolated from wounded and unwounded tubers differed significantly. A cDNA library was established and screened for wound-induced cDNA clones by differential hybridization. Two clones, wun-1 and wun-2, were found that corresponded to genes that were highly expressed in wounded potato tubers but were not expressed in unwounded tubers. The expression of the gene corresponding to wun-1 is detectable 30 min after wounding; the expression of the gene corresponding to wun-2 is detectable 4 hr after wounding. The expression of both genes (hereafter referred to as wun-1 and wun-2) remains constant for up to 24 hr after wounding. Interestingly the RNA corresponding to patatin, a major storage protein of potato tubers, behaves in the opposite way; it decreases dramatically in tubers within 30 min after wounding. The low level of patatin mRNA observed in unwounded roots and stems also disappears after wounding. Run-off transcription experiments, performed with isolated nuclei, indicate that the activation of the wound-induced genes as well as the inhibition of the patatin gene are controlled at the transcriptional level.

  2. Adie’s Tonic Pupil in Systemic Sclerosis: A Rare Association

    Directory of Open Access Journals (Sweden)

    Anusha Venkataraman

    2015-01-01

    Full Text Available We report a rare association of Adie’s tonic pupil in a patient with systemic sclerosis who was otherwise systemically stable. This paper is an effort to unravel whether the tonic pupil and systemic sclerosis are an association by chance (which may be the case or systemic sclerosis is the source of the tonic pupil.

  3. Provision and financing of assistive technology devices in Germany: a bureaucratic odyssey? The case of amyotrophic lateral sclerosis and Duchenne muscular dystrophy.

    Science.gov (United States)

    Henschke, Cornelia

    2012-05-01

    The regulations for financing assistive technology devices (ATDs) are complex and fragmented and, thus, might influence adequate provision of these devices to people who need multiple ATDs. This study aims to explore and analyze patients' problems with the provision and financing of ATDs for the following two rare diseases: amyotrophic lateral sclerosis (ALS) and Duchenne muscular dystrophy (DMD). A survey was conducted by means of semi-standardized questionnaires addressing the issues of coverage decisions for ATDs and problems with provision of ATDs. Information was retrieved from ALS (n=19) and DMD (n=14) patients. Conducted interviews were transcribed verbatim and analyzed using qualitative content analysis. Respondents experienced difficulties with the provision and financing of ATDs. They underlined problems such as long approval processes and a serious bureaucratic burden, which induced inadequate provision of ATDs. Experiences of ALS and DMD respondents frequently were similar, especially regarding financing decisions and the process of decision making by sickness funds. The results suggest that difficulties in receiving and financing ATDs are common problems among ALS and DMD patients. There is a need for an interdisciplinary approach in the provision of ATDs and their financing, which should be coordinated by case managers. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  4. A Marked Response to Immunosuppressive Intervention for Abruptly Occurring Cardiac Complications in a Case of Juvenile Systemic Sclerosis Overlapped with Dermatomyositis

    Directory of Open Access Journals (Sweden)

    Tsunehisa Nagamori

    2017-01-01

    Full Text Available Juvenile-onset systemic sclerosis (jSSc is a rare condition, having unique characteristic features compared to adult-onset SSc. Although cardiac involvement (CI is known as a leading cause of mortality overall in SSc, the importance of CI in jSSc has not been emphasized. Here we present a 13-year-old female with jSSc overlapped with dermatomyositis (DM complicated CI. She developed skin thickness and induration, Raynaud’s phenomenon, digital pitting scars in fingertips, and skeletal myositis. Oral prednisolone and pulse methotrexate treatment led to the improvement of skin findings; however two weeks after the initiation she suddenly presented with muscle pain and dyspnea within a few days. Cardiac investigations then showed pericardiac effusion and diastolic dysfunction due to significant biventricular hypertrophy causing heart failure. As pericardiac effusion and exacerbation of skeletal myositis were evident, steroid pulse therapy was initiated. Unexpectedly, not only the myositis but also the CI including diastolic dysfunction was improved. She thereafter followed a favorable clinical course without reactivation of the CI or cardiac fibrosis. As a conclusion, close attention to CI must be paid in jSSc patients, especially when skeletal muscle involvement is evident and immunosuppressive therapy may be effective for CI in jSSc in cases where it occurs abruptly.

  5. 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...

  6. Pharmacognostical studies on tubers of Momordica tuberosa Cogn., Cucurbitaceae

    Directory of Open Access Journals (Sweden)

    Pramod Kumar

    Full Text Available The study was aimed at establishing pharmacognostical profile for the tubers of plant Momordica tuberosa Cogn., Cucurbitaceae. Morphoanatomy of tubers of this plant were studied in order to establish its complete profile to aid in its identification and avoid confusion in its taxanomic species. These were established using light microscopy, WHO recommended physicochemical and phytochemical procedures. The parameters presented here may be used to establish the authenticity of tubers of this plant as this part has been used traditionally in India and also to differentiate between closely related Momordica species.

  7. 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

    squares regression (PLSR) models were applied to predict the dry matter content. Results showed that the PLSR models gave markedly better prediction of the dry matter content from the dielectric response in most of the investigated systems compared to the univariate linear models. The highest precision...... of the dielectric measurement on potato tubers was predicted with a RMSE of 1.21 percentage points. The dry matter content of total potato tubers were predicted with a RMSE of 1.93 percentage points. The difference between the precision of the local and total potato tuber dry matter prediction indicated...

  8. Cerebral Microbleeds in Multiple Sclerosis Evaluated on Susceptibility-weighted Images and Quantitative Susceptibility Maps: A Case-Control Study.

    Science.gov (United States)

    Zivadinov, Robert; Ramasamy, Deepa P; Benedict, Ralph R H; Polak, Paul; Hagemeier, Jesper; Magnano, Christopher; Dwyer, Michael G; Bergsland, Niels; Bertolino, Nicola; Weinstock-Guttman, Bianca; Kolb, Channa; Hojnacki, David; Utriainen, David; Haacke, E Mark; Schweser, Ferdinand

    2016-12-01

    Purpose To assess cerebral microbleed (CMB) prevalence in patients with multiple sclerosis (MS) and clinically isolated syndrome (CIS) and associations with clinical outcomes. Materials and Methods CMBs are associated with aging and neurodegenerative disorders. The prevalence of CMBs has not previously been well established. In this study, 445 patients with MS (266 with relapsing-remitting MS, 138 with secondary progressive MS, and 41 with primary progressive MS), 45 patients with CIS, 51 patients with other neurological diseases, and 177 healthy control subjects (HCs) underwent 3-T magnetic resonance (MR) imaging and clinical examinations. A subset of 168 patients with MS and 50 HCs underwent neuropsychological testing. Number of CMBs was assessed on susceptibility-weighted minimum intensity projections by using the Microbleed Anatomic Rating Scale; volume was calculated by using quantitative susceptibility maps. Differences between groups were analyzed with the χ 2 test, Fisher exact test, Student t test, and analysis of variance; associations of CMBs with clinical and other MR imaging outcomes were explored with correlation and regression analyses. Because CMB frequency increases with age, prevalence was investigated in participants at least 50 years of age and younger than 50 years. Results Significantly more patients with MS than HCs had CMBs (19.8% vs 7.4%, respectively; P = .01) in the group at least 50 years old. A trend toward greater presence of CMBs was found in patients with MS (P = .016) and patients with CIS who were younger than 50 years (P = .039) compared with HCs. In regression analysis adjusted for age, hypertension, and normalized brain volume, increased number of CMBs was significantly associated with increased physical disability in the MS population (R 2 = 0.23, P auditory and verbal learning and memory (P = .006) and visual information processing speed trends (P = .049) in patients with MS. Conclusion Monitoring CMBs may be relevant in

  9. Vaccines in Multiple Sclerosis.

    Science.gov (United States)

    Williamson, Eric M L; Chahin, Salim; Berger, Joseph R

    2016-04-01

    Vaccinations help prevent communicable disease. To be valuable, a vaccine's ability to prevent disease must exceed the risk of adverse effects from administration. Many vaccines present no risk of infection as they are comprised of killed or non-infectious components while other vaccines consist of live attenuated microorganisms which carry a potential risk of infection-particularly, in patients with compromised immunity. There are several unique considerations with respect to vaccination in the multiple sclerosis (MS) population. First, there has been concern that vaccination may trigger or aggravate the disease. Second, disease-modifying therapies (DMTs) employed in the treatment of MS may increase the risk of infectious complications from vaccines or alter their efficacy. Lastly, in some cases, vaccination strategies may be part of the treatment paradigm in attempts to avoid complications of therapy.

  10. The main clinical symptoms of multiple sclerosis at the children in the debut. Own observation

    Directory of Open Access Journals (Sweden)

    Stetsenko T.I.

    2016-05-01

    Full Text Available Objective: evaluate first clinical signs of MS for early diagnosis and prevention of disability. Patients and methods. There are results of examination of 9 patients (5 boys, 4 girls aged 15 to 17 years, who sought a neurological department NDSL «OKHMATDYT» during 2014 for further diagnosis & treatment. Researches included a general clinical examination, immunological parameters, visual evoked potentials, CT, MRI with contrast of brain and spinal cord. Data analysis was performed according to McDonald criteria. Results. The complaints are presented in all cases of violation of the sensitivity of the limbs (numbness of limbs mainly in the left part of a body as a result of stress, during the studies at school, after physical exercises, against a background of full health. Later, they were accompanied by paresis of facial muscles in the central-type, by the central amaurosis of both eyes, by the periodic urinary incontinence in the last 7 years, lower spastic paraparesis and left-side hemiparesis. Clinically: nistahmoyid in extreme abduction of the eyeballs, asymmetry of reflexes, abnormal volatility of iambic signs, violation of statics and coordination. In the first case there were detected 7 exacerbations. In MRI of the brain was detected multiple hiperintense foci of periventricular and subcortical mostly (8 cases, spread to the spinal cord (2 cases. At the previous stages was diagnosed herpes infection, subacute encephalitis, brain volumetric process, ADEM, acute myelitis, tuberous sclerosis, CVA. After the examination in conditions of highly specialized branch was established in RS for appropriate treatment. Conclusions. 1. The manifestation of MS among children 15–17 year old mostly presented monosymptomatic and sensitivity violation almost in all cases. 2. Characteristic remitting and relapsing-remitting-relapsing course of MS, cerebral form (in 2 cases cerebrovascular spinal. 3. A clearly shown dissemination in space and time

  11. Incidence of multiple sclerosis in Denmark 1948-1982

    DEFF Research Database (Denmark)

    Koch-Henriksen, Nils; Brønnum-Hansen, Henrik; Hyllested, K

    1992-01-01

    The incidence rates of multiple sclerosis (MS) in Denmark were estimated as a result of a continuous nationwide epidemiological survey since 1948 by the Danish Multiple Sclerosis Registry (DMSR). Among cases notified to the DMSR, 6,478 met the diagnostic criteria and had onset of MS from 1948...

  12. The Danish Multiple Sclerosis Registry. History, data collection and validity

    DEFF Research Database (Denmark)

    Koch-Henriksen, N; Rasmussen, S; Stenager, E

    2001-01-01

    The Danish Multiple Sclerosis Registry was formally established in 1956 but started operating in 1949 with a nationwide prevalence survey. Since then, the Registry has continued collecting data on new and old cases of multiple sclerosis (MS) or suspected MS from multiple sources. The Registry...

  13. SWEET POTATO (IPOMEA BATATAS) TUBER- POTENTIAL ORAL ...

    African Journals Online (AJOL)

    Femi Olaleye

    300gm of sliced potato toot tuber in about. 300mls of water. Phytochemical screening of the extracts was .... m. 5mg/kg 84.50±. 131.25. 126.73 124.55 ± 2.00 121.85 ± 2.0. 120.25 ± 2.00. 2.00. ±2.00. ±2 00. IV. 5mg/kg 83.00± 131.50± 109.05 115.05 ± 3.00 104.66 ± 3.00. 101.00 ± 2.00. 0.02. 0.02. ±3.00 v. 5mgjkg 82.50±.

  14. Isolation of Mitochondria from Potato Tubers

    DEFF Research Database (Denmark)

    Havelund, Jesper F.; Salvato, Fernanda; Chen, Mingjie

    2014-01-01

    One way to study the function of plant mitochondria is to extract them from plant tissues in an uncontaminated, intact and functional form. The reductionist assumption is that the components present in such a preparation and the in vitro measurable functions or activities reliably reflect...... the in vivo properties of the organelle inside the plant cell. Here, we describe a method to isolate mitochondria from a relatively homogeneous plant tissue, the dormant potato tuber. The homogenization is done using a juice extractor, which is a relatively gentle homogenization procedure where...... the mitochondria are only exposed to strong shearing forces once. After removal of starch and large tissue pieces by filtration, differential centrifugation is used to remove residual starch as well as larger organelles. The crude mitochondria are then first purified by using a step Percoll gradient...

  15. Gait Characteristics in Adolescents With Multiple Sclerosis.

    Science.gov (United States)

    Kalron, Alon; Frid, Lior; Menascu, Shay

    2017-03-01

    Multiple sclerosis is a progressive autoimmune disease of the central nervous system. A presentation of multiple sclerosis before age18 years has traditionally been thought to be rare. However, during the past decade, more cases have been reported. We examined gait characteristics in 24 adolescents with multiple sclerosis (12 girls, 12 boys). Mean disease duration was 20.4 (S.D. = 24.9) months and mean age was 15.5 (S.D. = 1.1) years. The mean expanded disability status scale score was 1.7 (S.D. = 0.7) indicating minimal disability. Outcomes were compared with gait and the gait variability index value of healthy age-matched adolescents. Adolescents with multiple sclerosis walked slower with a wider base of support compared with age-matched healthy control subjects. Moreover, the gait variability index was lower in the multiple sclerosis group compared with the values in the healthy adolescents: 85.4 (S.D. = 8.1) versus 96.5 (S.D. = 7.4). We present gait parameters of adolescents with multiple sclerosis. From a clinical standpoint, our data could improve management of walking dysfunction in this relatively young population. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Biofuel production from Jerusalem artichoke tuber inulins: a review

    Directory of Open Access Journals (Sweden)

    Samarthya Bhagia

    2017-06-01

    Full Text Available Jerusalem artichoke (JA has a 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 discusses tuber and inulin yields, effect of cultivar and environment on tuber productivity, and approaches to fermentation for ethanol production. Consolidated bioprocessing with Kluyveromyces marxianus has been the most popular approach for fermentation into ethanol. Apart from ethanol, fructose can be dehydrated into into 5-hydrolxymethylfurfural followed by catalytic conversion into hydrocarbons. Findings from several studies indicate that this plant from tubers alone can produce ethanol at yields that rival corn and sugarcane ethanol. JA has tremendous potential for use as a bioenergy feedstock.

  17. Antiproliferative activity of cytotoxic tuber lectins from Solanum ...

    African Journals Online (AJOL)

    SAM

    2014-04-09

    tumor potential against experimentally induced Ehrlich ascites carcinoma in Swiss albino mice was evaluated. Twenty. (20) kDa chitin-binding lectins from Solanum tuberosum tubers, STL-S and STL-D were purified through.

  18. Assuring potato tuber quality during storage: A future perspective

    OpenAIRE

    Alamar, M. C.; Tosetti, Roberta; Landahl, Sandra; Bermejo, Antonio; Terry, Leon A.

    2017-01-01

    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 str...

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

    OpenAIRE

    M. C. Alamar; Roberta Tosetti; Sandra Landahl; Antonio Bermejo; Leon A. Terry

    2017-01-01

    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 str...

  20. Incapacidad laboral en esclerosis múltiple: a propósito de un caso Working disability in multiple sclerosis: a propos of a case

    Directory of Open Access Journals (Sweden)

    Gian C. Navarro Chumbes

    2010-12-01

    Full Text Available Enfermera de 34 años de edad que acude a la Unidad Médica de Valoración de Incapacidades del INSS (Instituto Nacional de Seguridad Social para valoración de Incapacidad Temporal (IT; diagnosticada de Esclerosis Múltiple (EM hace 10 años, presentó 6 brotes, por lo que requirió tratamiento con Acetato de Glatirámero y se le adaptó el puesto de trabajo. Actualmente tiene un EDSS (Expanded Disability Status Scale estimado de 1,0, y actualmente no está con tratamiento inmunomodulador. Este caso clínico lo que busca es conocer de qué manera se valora la incapacidad laboral en los casos de trabajadores que padecen de EM, asimismo cómo se determina el grado de menoscabo en función del EDSS y qué aspectos laborales son tomados en consideración.A 34-year old woman, nurse, who arrives to the Medical Assessment Disability Unit of SSNI (Social Security National Institute for to assess Temporary Disability (TD, she was diagnosed of Multiple Sclerosis (MS 10 years ago, she had 6 outbreaks and because of that she was treated with Glatiramer Acetate and also her workstation was adapted. At the moment she has an EDSS (Expanded Disability Status Scale of 1.0, and now she does not receive immunomodulator treatment. With this case report we want to know the way that labour disability is evaluated for workers that complain of MS, also how the damage degree is determined according to EDSS and what labour aspects are taken into consideration.

  1. Primary lateral sclerosis: a case report with SPECT study Esclerose lateral primária: relato de caso com estudo por SPECT

    Directory of Open Access Journals (Sweden)

    WALTER OLESCHKO ARRUDA

    1998-09-01

    Full Text Available Primary lateral sclerosis (PLS is a neurodegenerative disease with progressive corticospinal involvement and characterized by lower limbs spasticity followed by upper limbs involvement, rare cranial nerve involvement, typical sparing of all sensory modalities, sphincteric function and eventually mild cognitive changes. The authors report a case of PLS in a 43-year-old woman with 3 years of clinical follow-up and extensive laboratory investigation, including a SPECT study which disclosed bilateral frontal motor area hypometabolism. Several aspects about this unique disease were reviewed, including differential diagnosis with other more common neurological disorders.Esclerose lateral primária (ELP é forma rara de doença neurodegenerativa de origem desconhecida caracterizada por envolvimento progressivo do trato corticoespinhal, traduzido clinicamente como quadro de espasticidade progressiva, inicialmente nos membros inferiores, com hiperreflexia e outros sinais piramidais. Notoriamente há preservação de todas as modalidades de sensibilidade e função esfincteriana. Discretos achados de disfunção cognitiva frontal podem ser eventualmente encontrados. Os autores relatam um caso de ELP em uma mulher de 43 anos, com seguimento clínico por 3 anos e com extensa avaliação complementar laboratorial. Estudo de SPECT revelou áreas bilaterais de hipometabolismo nas regiões frontais, córtex motor. Vários aspectos relacionados a esta rara entidade são discutidos, principalmente seu diagnóstico diferencial com outras doenças neurológicas mais comuns.

  2. Suicide and multiple sclerosis

    DEFF Research Database (Denmark)

    Stenager, E N; Stenager, Egon; Koch-Henriksen, Nils

    1992-01-01

    In a nationwide investigation the risk of death by suicide for patients with multiple sclerosis (MS) was assessed using records kept at the Danish Multiple Sclerosis Registry (DMSR) and the Danish National Register of Cause of Death. The investigation covers all MS patients registered with DSMR...

  3. Comparative proteomics of tuber induction, development and maturation reveal the complexity of tuberization process in potato (Solanum tuberosum L.).

    Science.gov (United States)

    Agrawal, Lalit; Chakraborty, Subhra; Jaiswal, Dinesh Kumar; Gupta, Sonika; Datta, Asis; Chakraborty, Niranjan

    2008-09-01

    Tuberization in potato ( Solanum tuberosum L.) is a developmental process that serves a double function, as a storage organ and as a vegetative propagation system. It is a multistep, complex process and the underlying mechanisms governing these overlapping steps are not fully understood. To understand the molecular basis of tuberization in potato, a comparative proteomic approach has been applied to monitor differentially expressed proteins at different development stages using two-dimensional gel electrophoresis (2-DE). The differentially displayed proteomes revealed 219 protein spots that change their intensities more than 2.5-fold. The LC-ES-MS/MS analyses led to the identification of 97 differentially regulated proteins that include predicted and novel tuber-specific proteins. Nonhierarchical clustering revealed coexpression patterns of functionally similar proteins. The expression of reactive oxygen species catabolizing enzymes, viz., superoxide dismutase, ascorbate peroxidase and catalase, were induced by more than 2-fold indicating their possible role during the developmental transition from stolons into tubers. We demonstrate that nearly 100 proteins, some presumably associated with tuber cell differentiation, regulate diverse functions like protein biogenesis and storage, bioenergy and metabolism, and cell defense and rescue impinge on the complexity of tuber development in potato.

  4. Roots, Tubers and Bananas: Planning and research for climate resilience

    Directory of Open Access Journals (Sweden)

    Thiele Graham

    2017-02-01

    Full Text Available The CGIAR Research Program (CRP on Roots, Tubers and Bananas (RTB includes vegetatively propagated staple crops linked by common breeding, seed, and postharvest issues, and by the frequency with which women are involved in their production and use. RTB crops are the backbone of food security across the humid tropics in sub-Saharan Africa (SSA and in more localized areas of Asia and Latin America. Around 300 million poor people in developing countries currently depend on RTB value chains for food security, nutrition and income. Climate change poses challenges which could undo progress in poverty reduction and markedly increase food insecurity. This article examines planning and research for climate resilience across RTB crops, with a particular focus on the contrasting potato and sweet potato cases in SSA. A six-step framework for climatesmart breeding is proposed: (1 downscaling climate change models and crop modeling; (2 identifying and understanding key climate change responsive traits; (3 breeding and varietal selection; (4 phenotyping and genomic research to accelerate gains; (5 developing management options for climate-smart varieties; and (6 deployment (seed systems. In summary, climate-smart breeding means we need to do what we already do but faster, better, and smarter.

  5. Hearing Disorders in Multiple Sclerosis (MS Patiants

    Directory of Open Access Journals (Sweden)

    Ghasem Mohammadkhani

    2003-12-01

    Full Text Available Objective: Multiple sclerosis (MS is a neurological disease that causes sudden deaf. In this research auditory disorders were studied in the patients with multiple sclerosis (MS. Materials & Methods: This cross sectional descriptive-analytical study was performed on 107 patients with multiple sclerosis in the range of 20-45 yrs. There were not history of trauma and middle ear disease in all cases. Sampling was randomized. A complete auditory evaluation including pure tone audiometry, speech audiometry, imittance audiometry and brainstem Auditory Evoked Potential were performed on patients. Results: In pure tone audiometry 62.19% of cases had sensory neural high tone loss. In speech audiometry and imittance audiometry 18 and 31 cases were abnormal, respectively. 14.55% of cases had abnormality in BAEP. The most of abnormalities were prolonged latency of V, decrease of V/I amplitude ratio and poor reproducibility, respectively. With high rate of stimulation 57.77% of cases were abnormal. Statistical analysis showed significant difference between latency of V and stimulation rate. Conclusion: According to findings of this research it seems that hearing evaluation is very important for follow-up and early rehabilitation of auditory disorder in patients with MS. Also auditory tests battery especially brain-stem auditory evoked potentials (BAEP with high stimulation rate are useful in the diagnosis of Multiple Sclerosis.

  6. de tuberías enterradas

    Directory of Open Access Journals (Sweden)

    Jorge Andrés Calderón

    2005-01-01

    Full Text Available La corrosión de tuberías enterradas es un fenómeno que depende más de la corrosividad del suelo que de la naturaleza del metal. La evaluación de la corrosividad del suelo es una actividad compleja debido a la cantidad de variables que interactúan entre sí. En este trabajo se hace un análisis multivariado de los principales factores que intervienen en la corrosión de estructuras enterradas. El análisis permite clasificar factorialmente y transformar un conjunto de variables correlacionadas en un nuevo conjunto de menor dimensión de nuevas variables no correlacionadas, permitiendo mejor comprensión de los datos de las unidades experimentales y la detección de las variables de mayor peso en la variable respuesta, lo que permite disminuir el número de variables por medir. En este artículo se describen las técnicas experimentales empleadas y el análisis estadístico realizado sobre 6 variables medidas en las unidades experimentales. A partir del análisis multivariado y la clasificación por grupos pudo obtenerse un conjunto de 3 variables, las cuales permiten realizar una clasificación de los diferentes tipos de suelo según su corrosividad, con confiabilidad del 90% y error del 20%.

  7. A genetic screen identifies Tor as an interactor of VAPB in a Drosophila model of amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Senthilkumar Deivasigamani

    2014-10-01

    Full Text Available Amyotrophic Lateral Sclerosis (ALS is a progressive neurodegenerative disorder characterized by selective death of motor neurons. In 5–10% of the familial cases, the disease is inherited because of mutations. One such mutation, P56S, was identified in human VAPB that behaves in a dominant negative manner, sequestering wild type protein into cytoplasmic inclusions. We have conducted a reverse genetic screen to identify interactors of Drosophila VAPB. We screened 2635 genes and identified 103 interactors, of which 45 were enhancers and 58 were suppressors of VAPB function. Interestingly, the screen identified known ALS loci – TBPH, alsin2 and SOD1. Also identified were genes involved in cellular energetics and homeostasis which were used to build a gene regulatory network of VAPB modifiers. One key modifier identified was Tor, whose knockdown reversed the large bouton phenotype associated with VAP(P58S expression in neurons. A similar reversal was seen by over-expressing Tuberous Sclerosis Complex (Tsc1,2 that negatively regulates TOR signaling as also by reduction of S6K activity. In comparison, the small bouton phenotype associated with VAP(wt expression was reversed with Tsc1 knock down as well as S6K-CA expression. Tor therefore interacts with both VAP(wt and VAP(P58S, but in a contrasting manner. Reversal of VAP(P58S bouton phenotypes in larvae fed with the TOR inhibitor Rapamycin suggests upregulation of TOR signaling in response to VAP(P58S expression. The VAPB network and further mechanistic understanding of interactions with key pathways, such as the TOR cassette, will pave the way for a better understanding of the mechanisms of onset and progression of motor neuron disease.

  8. A genetic screen identifies Tor as an interactor of VAPB in a Drosophila model of amyotrophic lateral sclerosis.

    Science.gov (United States)

    Deivasigamani, Senthilkumar; Verma, Hemant Kumar; Ueda, Ryu; Ratnaparkhi, Anuradha; Ratnaparkhi, Girish S

    2014-10-31

    Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by selective death of motor neurons. In 5-10% of the familial cases, the disease is inherited because of mutations. One such mutation, P56S, was identified in human VAPB that behaves in a dominant negative manner, sequestering wild type protein into cytoplasmic inclusions. We have conducted a reverse genetic screen to identify interactors of Drosophila VAPB. We screened 2635 genes and identified 103 interactors, of which 45 were enhancers and 58 were suppressors of VAPB function. Interestingly, the screen identified known ALS loci - TBPH, alsin2 and SOD1. Also identified were genes involved in cellular energetics and homeostasis which were used to build a gene regulatory network of VAPB modifiers. One key modifier identified was Tor, whose knockdown reversed the large bouton phenotype associated with VAP(P58S) expression in neurons. A similar reversal was seen by over-expressing Tuberous Sclerosis Complex (Tsc1,2) that negatively regulates TOR signaling as also by reduction of S6K activity. In comparison, the small bouton phenotype associated with VAP(wt) expression was reversed with Tsc1 knock down as well as S6K-CA expression. Tor therefore interacts with both VAP(wt) and VAP(P58S), but in a contrasting manner. Reversal of VAP(P58S) bouton phenotypes in larvae fed with the TOR inhibitor Rapamycin suggests upregulation of TOR signaling in response to VAP(P58S) expression. The VAPB network and further mechanistic understanding of interactions with key pathways, such as the TOR cassette, will pave the way for a better understanding of the mechanisms of onset and progression of motor neuron disease. © 2014. Published by The Company of Biologists Ltd.

  9. Amyotrophic lateral sclerosis-A case report and mechanistic review of the association with toluene and other volatile organic compounds.

    Science.gov (United States)

    Ratner, Marcia H; Jabre, Joe F; Ewing, William M; Abou-Donia, Mohamed; Oliver, L Christine

    2018-03-01

    Unmasking of latent neurodegenerative disease has been reported following exposure to chemicals that share one or more mechanisms of action in common with those implicated in the specific disease. For example, unmasking of latent Parkinson's disease (PD) has been associated with exposure to anti-dopaminergic agents, while the progression of pre-existing mild cognitive impairment and unmasking of latent Alzheimer's disease has been associated with exposure to general anesthetic agents which promote Aβ protein aggregation. This literature review and clinical case report about a 45-year-old man with no family history of motor neuron disease who developed overt symptoms of a neuromuscular disorder in close temporal association with his unwitting occupational exposure to volatile organic compounds (VOCs) puts forth the hypothesis that exposure to VOCs such as toluene, which disrupt motor function and increase oxidative stress, can unmask latent ALS type neuromuscular disorder in susceptible individuals. © 2017 Wiley Periodicals, Inc.

  10. Hippocampal sclerosis and chronic epilepsy following posterior reversible encephalopathy syndrome.

    Science.gov (United States)

    Kapina, Viktoria; Vargas, Maria-Isabel; Wohlrab, Gabriele; Vulliemoz, Serge; Fluss, Joel; Seeck, Margitta

    2013-12-01

    Chronic epilepsy has rarely been reported after posterior reversible encephalopathy syndrome (PRES) and the association with hippocampal sclerosis has been suggested only once before. We report the case of a girl admitted at the age of 8 years with idiopathic nephrotic syndrome. On the second day of admission, she presented with focal complex seizures and cerebral MRI showed posterior encephalopathy and no hippocampal sclerosis. MRI after one month confirmed the diagnosis of PRES. The seizures recurred and the girl developed pharmacoresistant epilepsy and was admitted to our hospital for further investigation. Cerebral MRI three years after the diagnosis of PRES showed hippocampal sclerosis which was not present on the initial MRI. We conclude that there is a triggering role of PRES in the development of hippocampal sclerosis. Hippocampal sclerosis may have resulted from seizure-associated damage, alternatively, hypertensive encephalopathy may have led to hippocampal damage via a vascular mechanism.

  11. 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.

  12. The impact of R1and R3a genes on tuber resistance to late blight of the potato breeding clones

    Directory of Open Access Journals (Sweden)

    Zoteyeva Nadezhda

    2016-04-01

    Full Text Available Potato breeding clones were evaluated for resistance to late blight (agent Phytophthora infestans using tuber inoculation tests and for presence of the resistance alleles of R1 and R3a genes in polymerase chain reaction tests. Among clones tested those expressing high, moderate and low resistance were identified. The data were analysed for the impact of R1 and R3a genes on tuber resistance to late blight in tested plant material. In previous evaluations performed on smaller amount of clones the tuber resistance levels significantly depended on presence/absence of the resistance allele of R3a gene and did not depend on presence of R1 gene allele. In the current study the statistical analyses did not prove the significant difference in resistance levels depending on presence of the resistance alleles, neither of R1 gene, nor of R3a gene. Tuber resistant clones bearing R3a gene resistance alleles still noticeably prevailed over the clones bearing the alleles of R1 gene as well as over the clones bearing the no resistance alleles of both genes. In several cases the resistance of clones with detected resistance allele of R1 gene was higher compared to those derived from the same crosses and showing amplification of the allele of R3a gene or those with no resistance alleles. Clones accumulating the resistance alleles of both (R1 and R3a genes expressed high tuber resistance accompanied by necrotic reaction.

  13. Experiment 9: ASTROCULTURE: Growth and Starch Accumulation of Potato Tuber

    Science.gov (United States)

    Tibbitts, Theodore W.; Brown, Christopher S.; Croxdale, Judith G.; Wheeler, Raymond M.

    1998-01-01

    Potato explants (leaf, small stem section, and axillary bud) flown on STS-73 developed tubers of 1.5 cm diameter and 1.7 g mass during the 16-day period of space flight. The experiment was undertaken in the ASTROCULTURE(TM) experiment package under controlled temperature, humidity, lighting, and carbon dioxide concentrations. The tubers that formed in the explant system under microgravity had the same gross morphology, the same anatomical configuration of cells and tissues, and the same sizes, shapes, and surface character of starch granules as tubers formed in a 1 g environment. The total accumulation of starch and other energy containing compounds was similar in space flight and ground control tubers. Enzyme activity of starch synthase, starch phosphorylase, and total hydrolase was similar in space flight and ground controls, but activity of ADP-glucose pyrophosphorylase was reduced in the space flight tuber tissue. This experiment documented that potatoes will metabolize and accumulate starch as effectively in space flight as on the ground. Thus, this data provides the potential for effective utilization of potatoes in life support systems of space bases.

  14. Space Experiment on Tuber Development and Starch Accumulation for CELSS

    Science.gov (United States)

    Tibbitts,Theodore W.; Croxdale, Judith C.; Brown, Christopher S.

    1997-01-01

    Potato explants (leaf, small stem section, and axillary bud), flown on STS-73, developed tubers of 1.5 cm diameter and 1.7 g mass during the 16 day period of spaceflight. The experiment was undertaken in the ASTROCULTURE(Trademark) experiment package under controlled temperature, humidity, lighting, and carbon dioxide concentrations. The tubers formed in the explant system under microgravity had the same gross morphology, the same anatomical configuration of cells and tissues, and the same sizes, shapes, and surface character of starch granules as tubers formed in a 1 g environment. The total accumulation of starch and other energy containing compounds was singular in space flight and ground control tubers. Enzyme activity of starch synthase, starch phosphorylase, and total hydrolase was similar in spaceflight and ground controls but activity of ADP-glucose pyrophosphorylase was reduced in the spaceflight tuber tissue. This experiment documented that potatoes will metabolize and accumulate starch as effectively in spaceflight as on the ground and thus this data provides the potential for effective utilization of potatoes in life support systems of space bases.

  15. 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

  16. 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)

  17. 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.;

  18. Concordance for multiple sclerosis in Danish twins

    DEFF Research Database (Denmark)

    Hansen, T; Skytthe, Axel; Stenager, Egon

    2005-01-01

    The occurrence of multiple sclerosis (MS) in twins has not previously been studied in complete nationwide data sets. The existence of almost complete MS and twin registries in Denmark ensures that essentially unbiased samples of MS cases among twins can be obtained. In this population-based study...

  19. Nutritional management of encapsulating peritoneal sclerosis with ...

    African Journals Online (AJOL)

    Saspen Case Study: Nutritional management of encapsulating peritoneal sclerosis with intradialytic parenteral nutrition. 2014;27(1). S Afr J Clin Nutr. Kriel J, BSc(Dietetics); Clinical Dietitian; Esau N, MSc(Dietetics), Clinical Dietitian. Tygerberg Academic Hospital; Department of Health. Correspondence: Janine Kriel, e-mail: ...

  20. A role for symplastic gating in the control of the potato tuber life cycle

    OpenAIRE

    Hancock, Robert D; Roberts, Alison G; Viola, Roberto

    2008-01-01

    The control of the potato tuber life cycle has been the subject of significant interest over many years. A number of different approaches have been adopted and data is available regarding hormonal, metabolic and gene expression changes that occur over the tuber life cycle. Despite this intense effort, no unifying model for the control of the potato tuber life cycle has emerged. We have undertaken a detailed analysis of the tuber life cycle utilising physiological, biochemical and cell-biologi...

  1. Biochemical properties and expression analysis of potato cytokinin oxidases during tuber dormancy

    Science.gov (United States)

    At harvest and for an indeterminate period thereafter, potato tubers are dormant and will not sprout. Tuber dormancy is lost during postharvest storage and the subsequent sprouting results in the loss of tuber processing and nutritional qualities. Endogenous cytokinins have been posited to play a p...

  2. Effects of 12-hour wetting of sun-dried cassava tuber meal on its ...

    African Journals Online (AJOL)

    The efficacy of wetting sun-dried cassava tuber meal as a method of reducing its hydrocyanide (HCN) content and improving its nutritive value for broilers was investigated. Cassava tubers were peeled, chopped into pieces, sun-dried and then milled. Part of the sun-dried cassava tuber meal was soaked in water at the rate ...

  3. 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

  4. Rehabilitation and multiple sclerosis

    DEFF Research Database (Denmark)

    Dalgas, Ulrik

    2011-01-01

    of their lives, emphasising the importance of rehabilitation in order to maintain quality of life. An important aspect of multiple sclerosis rehabilitation is the preservation of physical functioning. Hot topics in the rehabilitation of physical function include (1) exercise therapy, (2) robot-assisted training......, a paradigm shift is taking place and it is now increasingly acknowledged that exercise therapy is both safe and beneficial. Robot-assisted training is also attracting attention in multiple sclerosis rehabilitation. Several sophisticated commercial robots exist, but so far the number of scientific studies......In a chronic and disabling disease like multiple sclerosis, rehabilitation becomes of major importance in the preservation of physical, psychological and social functioning. Approximately 80% of patients have multiple sclerosis for more than 35 years and most will develop disability at some point...

  5. The Danish Multiple Sclerosis Registry. History, data collection and validity

    DEFF Research Database (Denmark)

    Koch-Henriksen, N; Rasmussen, S; Stenager, E

    2001-01-01

    The Danish Multiple Sclerosis Registry was formally established in 1956 but started operating in 1949 with a nationwide prevalence survey. Since then, the Registry has continued collecting data on new and old cases of multiple sclerosis (MS) or suspected MS from multiple sources. The Registry rec...... instrument for monitoring incidence and prevalence, analysing survival, performing genetic analysis, providing unselected patient samples for clinical analyses, performing case-control studies and prospective studies and estimating the need for treatment and care.......The Danish Multiple Sclerosis Registry was formally established in 1956 but started operating in 1949 with a nationwide prevalence survey. Since then, the Registry has continued collecting data on new and old cases of multiple sclerosis (MS) or suspected MS from multiple sources. The Registry...

  6. 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.

  7. Treatment of Neuropathic Pain and Functional Limitations Associated With Multiple Sclerosis Using an MRI-Compatible Spinal Cord Stimulator: A Case Report With Two Year Follow-Up and Literature Review.

    Science.gov (United States)

    Provenzano, David A; Williams, Joseph R; Jarzabek, Gaye; DeRiggi, Leonard A; Scott, Thomas F

    2016-06-01

    To report a case with two years follow-up of neuropathic pain and functional limitations associated with multiple sclerosis (MS) effectively treated with an MRI conditional spinal cord stimulator (SCS) system that allowed for spinal imaging. To present a comprehensive literature review of spinal cord stimulator utilization in the treatment of multiple sclerosis. Case report and literature review. Treatment was a spinal cord stimulation implant after successful trial. Pain scores, medication utilization, and functional outcomes were reviewed. Pre- and post-SCS implant MRI spine images were obtained. At 24 months follow-up, the patient has had a 77% reduction in pain and a 99% reduction in opioid use. Furthermore, he had improvement in reported tactile sensation, spasticity levels, and ambulation. Post-SCS implant, MRI images at 18 months follow-up provided the ability to review the spinal cord with minimal artifact. No new MS documented plaques occurred during this time period. A literature review demonstrated 33 published reports including a total of 496 trialed and 744 implanted patients. Only 3 of the reports occurred after the year 2000. We report the successful treatment of MS-associated pain and functional limitations with an MRI conditional spinal cord stimulator system. The ability to obtain post-implant MRI imaging of not only the brain but also the spinal cord in MS patients allows for the continued need to document and follow disease progression, especially with the advancements in pharmacological therapy. © 2016 International Neuromodulation Society.

  8. Contribution to the study of the effect of a low dose of gamma irradiation on seeds and tubers before planting

    International Nuclear Information System (INIS)

    Silvy, A.

    1968-01-01

    From 1962 to 1965, 25 tests have been made with carrots (1 variety), radish (3 varieties), spinach (2 var.), tomatoes (2 var.), potatoes (2 var.), barley (2 var.), rice (3 var.) and corn (1 var.), with the object of studying the interest for agriculture of seed and tuber gamma irradiation at low dose before planting. These tests were made in the laboratory, in greenhouses and in the open field, all necessary care being taken for a valuable statistical analysis of- the results. Special attention was paid to the homogeneity of plant material by controlling more particularly moisture content of seeds and the storage conditions of tubers. The observations concerned germination, growth at early stages, development phases and yield of leaves, roots and fruit. Some stimulation cases are observed. For tomatoes, it is found that stimulation cases occur at extreme moisture content and not in the range of mean moisture content which corresponds to maximum radioresistance. The demonstration of these effects is related to varieties, complementary treatments, conditions of cultivation and observation criteria. In most cases, they are short-lived and suitable modifications of seed conditioning produce, upon controls, an effect equivalent to that of irradiation. In conclusion, it seems very unlikely - considering our cultivation methods - that seed and tuber irradiation before planting could be of interest for agriculture. (authors) [fr

  9. Llenado de tuberías con aire atrapado

    OpenAIRE

    Fuertes, Vicente S.; Izquierdo Sebastián, Joaquín; Iglesias, Pedro L; Cabrera, Enrique; García-Serra, Jorge

    1997-01-01

    Las conducciones con perfil irregular presentan una serie de particularidades que no pueden ser ignoradas, como puede ser la posible cavitación en los puntos altos. Para evitar el colapso de la conducción se recurre a la instalación de ventosas, las cuales permiten la entrada de aire cuando la presión en el interior de la tubería es inferior a la atmosférica. Pero el aire introducido en la conducción debe ser expulsado cuando se vuelva a producir el llenado de la tubería, y ello debe hacerse ...

  10. Multicentric angiomyolipoma in kidney, liver, and lymph node: case report/review of the literature

    Directory of Open Access Journals (Sweden)

    Artur S. de Azevedo

    2015-06-01

    Full Text Available ABSTRACT Introduction: The angiomyolipoma (AML is constituted by adipose tissue, blood vessels and smooth muscle fiber; follows a benign clinical course, with slow growth and absence of metastasis, occurring in tuberous sclerosis or sporadically. Objective: We intend to describe the clinical, radiological and histological aspects of this tumor. Case report: A-64-year-old woman presented with abdominal pain and dyspepsia. Tomography showed hepatic, renal and mesenteric nodules. Histological evaluation of mesenteric lymph node revealed perivascular epithelioid differentiation neoplasia, compatible with AML/perivascular epithelioid cell tumor (PEComa, positive for anti-S100, anti-human melanoma black-45 (HMB-45 and anti-smooth muscle actin. Conclusion: We described a rare AML with renal, hepatic and lymph node involvement, representing a multicenter version instead of metastasis.

  11. DIFFERENTIATION OF RETINAL ASTROCYTIC HAMARTOMA FROM OTHER RETINAL NEOPLASMS: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    A. S. Olshanskaya

    2017-01-01

    Full Text Available Astrocytic retinal hamartoma (phacoma, astrocytoma is a benign tumor, formed through proliferation of glial astrocytes and blood vessels of the sensory part of the retina. For the first time, eye involvement in tuberous sclerosis (TS was described by J. van der Hoeva, Dutch ophthalmologist in 1921. A characteristic glial tumor is still considered a classic manifestation of this disease, however, retinal astrocytoma can be observed in practically healthy young people or children. We present the case of a 19-year-old woman diagnosed with multiple retinal hamartomas in the right eye. In addition to ophthalmoscopy, we used the additional diagnostic methods to determine the form of hamartomas (calcined or uncalcined and differentiate astrocytic retinal hamartoma from other tumors of the retina and choroid as well as to exclude pathological changes in the central nervous system. 

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

    Science.gov (United States)

    2016-10-01

    in different subtypes of brain cells , including neurons, glia or progenitor cells , all cause spontaneous seizures in animal models, suggesting that...Unlimited 13. SUPPLEMENTARY NOTES 14. ABSTRACT We seek to understand four basic questions related to epileptogenesis: 1) What is the role of mTOR...mutations in the TSC1 or TSC2 genes, which form a regulatory complex responsible for limiting the activity of an important intracellular regulator of cell

  13. Biochemical Characterisation of TSC1 and TSC2 Variants Identified in Patients with Tuberous Sclerosis Complex

    Science.gov (United States)

    2010-07-01

    inhibits the activity of the mammalian target of rapamycin (mTOR) complex 1 (TORC1). TORC1 coordinates nutritional , hormonal and other cues to regulate the...Biochimica et Biophysica Acta 1802 (2010) 774–7813.3. The N-terminal region is required for TSC1 stability Pathogenic aminoacid substitutions in theN-terminal

  14. A novel TSC2 mutation in a Chinese family with tuberous sclerosis ...

    Indian Academy of Sciences (India)

    Supplementary data, J. Genet. 93, 169-172. Figure 1. Amino acid changes caused by the deletion c.2690delT. The mutation (p.Phe897SerfsX947) resulted in a frameshift and a run of 50 missense amino acids followed by a premature stop codon (TGA), resulting in a truncation protein of 946 amino acids. Journal of Genetics ...

  15. Temporal Loss of Tsc1: Neural Development and Brain Disease in Tuberous Sclerosis

    Science.gov (United States)

    2014-06-01

    Posts can be clamped for quick and consistent head-fixing. Dental cement (Lang Dental , Wheeling IL) was used to form a surface within the head- post...regular carbide bur (Shank Type FGSS, Dentsply Professional) was used to clean away cement at the craniotomy site and thin the 11 skull. The bone was

  16. Altered Astrocyte-Neuron Interactions and Epileptogenesis in Tuberous Sclerosis Complex Disorder

    Science.gov (United States)

    2016-08-01

    consequent astrocyte pathology may itself contribute to the ongoing seizure activity. 5 Year 2: We recorded miniature EPSCs, evoked EPSCs and...mGFAPCreCKO mice develop spontaneous clinical seizures at the age of 2.5 months; b) TSC1mGFAPCreCKO mice show astrogliosis, activated mTOR signaling...glutamate transport and potassium buffering functions remained intact in TSC1mGFAPCreCKO mice at 1 month and 2 months of age , prior to the onset of

  17. Using Genetic Buffering Relationships Identified in Fission Yeast To Elucidate the Molecular Pathology of Tuberous Sclerosis

    Science.gov (United States)

    2016-07-01

    ONTARIO 1151 RICHMOND ST LONDON, ONTARIO, CANADA N6A-5B8 9. SPONSORING / MONITORING AGENCY NAME(S) AND ADDRESS(ES) 10. SPONSOR/MONITOR’S ACRONYM(S...cells diminished in tsc1 or tsc2 activity. It is also important to note that neither of these genes have been identified using traditional genetic

  18. Behavioral Analysis and Rescue of a Novel Cerebellar Mouse Model of Tuberous Sclerosis Complex

    Science.gov (United States)

    2012-05-01

    Neuropsychological  correlates of early symptoms of  autism . Child Dev, 1998. 69(5): p. 1276‐ 85.  19.  Vargas, D.L., et al., Neuroglial activation...disease progression [9, 10]. The brain pathology is the most debilitating aspect of TSC and is often associated with Autism Spectrum Disorders (ASD...Given the comorbidity of TSC and ASD, we hypothesized that abnormalities in the cerebellum of TSC patients might be an important determinant of autism

  19. Genome-Wide Analysis of Translational Control in Tuberous Sclerosis Complex

    Science.gov (United States)

    2013-07-01

    codons are non-AUG with the CUG as the most frequent one. We experimentally validated different translational products initiated from alternative...translational products . Third, the finding that an increase in protein synthesis is accompanied by a decrease in protein quality provides a plausible...a denatured protein, cotranslational folding is complicated by the vectorial nature of nascent chains, the frequent ribosome pausing, and the cellular

  20. Altered Astrocyte-Neuron Interactions and Epileptogenesis in Tuberous Sclerosis Complex Disorder

    Science.gov (United States)

    2015-06-01

    INVESTIGATOR: Dr. David Sulzer, Ph.D. CONTRACTING ORGANIZATION: Columbia University, New York , NY 10032 REPORT DATE: June 2015 TYPE OF REPORT...7. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) Columbia University New York , NY 10032-3702 8. PERFORMING ORGANIZATION REPORT NUMBER 9...analysis. Name: Ahrom Ham Project Role: Postdoctoral scientist Nearest person month worked: 2 Contribution to Project: Dr. Ham conducted the

  1. Biochemical Characterisation of TSC1 and TSC2 Variants Identifiedd in Patients with Tuberous sclerosis Complex

    Science.gov (United States)

    2008-07-01

    Genetics (II:2) had the c.350T4C change. Despite being somewhat hyperactive, this child developed normally until 4 years of age when epileptic seizures...II:1), who could not yet be tested for the c.350T4C change, suffered severe anoxia at birth and has severe infantile encephalopathy with spastic

  2. Amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Leigh P Nigel

    2009-02-01

    Full Text Available Abstract Amyotrophic lateral sclerosis (ALS is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year and prevalence (average 5.2 per100,000 are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio~1.5:1. Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1–2 years. Paralysis is progressive and leads to death due to respiratory failure within 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. Most ALS cases are sporadic but 5–10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2–5% have mutations of the TARDBP (TDP-43 gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease by appropriate investigations. The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurones and TDP-43

  3. Multiple Sclerosis and Vitamin D

    Science.gov (United States)

    ... All Demyelinating disease ( CNS) http://n.neurology.org//cgi/collection/all_demyelinating_disease_cns Multiple sclerosis http://n.neurology.org//cgi/collection/multiple_sclerosis Information about reproducing this article ...

  4. African Americans and Multiple Sclerosis

    Science.gov (United States)

    ... Council: nationalMSsociety.org/African- AmericansandMS African Americans & Multiple Sclerosis GENER AL INFORMATION MS STOPS PEOPLE FROM MOVING. ... Judy, diagnosed in 1982 What is MS? Multiple sclerosis (MS), an unpredictable, often disabling disease of the ...

  5. 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

    , 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. CONCLUSION: A few sensory......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...

  6. 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

  7. Ontogeny of the tuber crop Plectranthus edulis (Lamiaceae)

    NARCIS (Netherlands)

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

    2012-01-01

    Plectranthus edulis (Lamiaceae) is one of the economically important tuber crops of the genus Plectranthus. It is grown in mid and high altitude areas in parts of Ethiopia. The structure of this plant and its development in time has not been described in detail. Two similar experiments were carried

  8. YouTubers Videos and the Construction of Adolescent Identity

    Science.gov (United States)

    Pérez-Torres, Vanesa; Pastor-Ruiz, Yolanda; Ben-Boubaker, Sara Abarrou

    2018-01-01

    The main objective of this research is to analyze the content of YouTuber's videos that have the greatest impact on adolescents and their relationship with the construction of identity. The YouTube platform is one of the most commonly used by Spanish teenagers and around 70% of young people between 14 and 17 years of age prefer this network.…

  9. Phosphorylation of formate dehydrogenase in potato tuber mitochondria

    DEFF Research Database (Denmark)

    Bykova, N.V.; Stensballe, A.; Egsgaard, H.

    2003-01-01

    of phosphorylation of both FDH and PDH was strongly decreased by NAD+, formate, and pyruvate, indicating that reversible phosphorylation of FDH and PDHs was regulated in a similar fashion. At low oxygen concentrations inside the intact potato tubers, FDH activity was strongly increased relative to cytochrome c...

  10. Diversity of (dihydro) hydroxycinnamic acid conjugates in Colombian potato tubers

    NARCIS (Netherlands)

    Narvaez Cuenca, C.E.; Vincken, J.P.; Zheng, Chaoya; Gruppen, H.

    2013-01-01

    In potato tuber, caffeic acid (the predominant hydroxycinnamic acid (HCA)), its conjugates (HCAcs; i.e. chlorogenic acid (ChA), crypto-ChA, and neo-ChA), and anthocyanin-linked HCAs have been extensively described in the literature. In contrast, only little information is available on the occurrence

  11. genetic variability for tuber yield, quality, and virus disease complex ...

    African Journals Online (AJOL)

    Administrator

    GENETIC VARIABILITY FOR TUBER YIELD, QUALITY, AND VIRUS DISEASE. COMPLEX TRAITS IN UGANDA SWEETPOTATO GERMPLASM. E. GASURA, A.B. MASHINGAIDZE1 and S.B. MUKASA. Department of Crop Science, Makerere University, P. O. Box 7062 Kampala, Uganda. 1Department of Crop Science, ...

  12. 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.

  13. Economics of Mini tuber Seed Yam Production Technique in South ...

    African Journals Online (AJOL)

    Marcel

    With this, the demand for yam tubers in Nigeria still exceeds its supply (Andreas, 2003). The gap between supply and demand for yam still remains over 50 million metric tons per annum. Among the inputs required in yam production, labour and planting material (seed yams) are the most demanding (Ezeh, 1998). In Nigeria ...

  14. 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

  15. 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 ...

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

    Science.gov (United States)

    Alamar, M C; Tosetti, Roberta; Landahl, Sandra; Bermejo, Antonio; Terry, Leon A

    2017-01-01

    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.

  17. 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 ...

  18. Utilization Of Improved Root And Tuber Crops Production ...

    African Journals Online (AJOL)

    The utilization of improved Root and Tuber Crops Production Technologies among Extension Agents in Kogi State was assessed in 2007. The data were collected sing structured questionnaire and analyzed using simple descriptive statistics (frequency and percentages) and linear regression analysis. Results showed that ...

  19. Leaf Chlorophyll Content and Tuberous Root Yield of Cassava in ...

    African Journals Online (AJOL)

    Two field trials were established in 1996 and 1997 to assess genotypic variability of four cassava (Manihot esculanta) cultivars for adaptability in the inland valley in terms of leaf chlorophyll content and tuberous root yield, using a 4 x 4 Latin square design with four replications arranged along the toposequence.

  20. Yield Evaluation and Morphological Variability of Tubers of Intra ...

    African Journals Online (AJOL)

    The morphological characterization of the yam tubers using yam manual descriptor code character and mathematics of information theory which allows simultaneous analysis of both ... to the eye. These could be selected for commercial yam production and should be included in the germplasm for further breeding purposes.

  1. The significance of gathering wild orchid tubers for orphan ...

    African Journals Online (AJOL)

    Abstract. We investigated the role of gathering and selling the edible tubers of wild orchids by children orphaned by AIDS as one of their livelihood strategies, through a ... child-headed households, food security, impact assessment, natural resource management, non-timber forest products, rural sociology, wild edible plants

  2. Callus initiation and regeneration in a minor tuber crop 'Rizga ...

    African Journals Online (AJOL)

    esculentus. From tuber cutting, calli were formed when explants were cultured on MS basal salts supplemented with differing regimes of either 2, 4-D and NAA separately or in combination with 0.5mgl-1 BAP. Initiation of callus was best when ...

  3. Effect of mushroom ( Pleurotus tuber-regium ) inoculums on crude ...

    African Journals Online (AJOL)

    Pollution of soils by crude oil in Niger-Delta of Nigeria has brought untold hardship to the inhabitants of the region. This study was carried out in 2010/2011 and 2011/2012 to determine the effect of Pleurotus tuber-regium (mushroom) inoculums on crude oil polluted soil on stover and grain yields and as well as cob length ...

  4. Prevalence of Six Viruses in Potato Seed Tubers Produced in ...

    African Journals Online (AJOL)

    Potato (Solanum tuberosum L.) is an important cash-food crop, which is widely grown in three of the five agro-ecological zones of Cameroon. A study was carried out to determine the prevalence of PVA, PLRV, PVM, PVS, PVX and PVY in 1175 sprouted potato seed tubers of different diameters collected from four seed ...

  5. influence of treatment of seed potato tubers with plant crude

    African Journals Online (AJOL)

    ACSS

    Seed potato tuber treatment with plant crude essential oil extracts. 297 were pipetted on to filter paper (Whatman No. 9;. 18.5 cm diameter; Whatman, Maidstone, Kent,. Germany), which was taped inside of the lid of each plastic, at the pre-determined treatment doses. The jars were lid-sealed and arranged in a completely ...

  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. 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 ...

  8. Eight-and-a-half syndrome as presenting sign of childhood multiple sclerosis

    DEFF Research Database (Denmark)

    Mortzos, Panteleimon; Nordling, Mette Maria; Sørensen, Torben Lykke

    2014-01-01

    We present a case of a 12-year-old boy with eight-and-a-half syndrome that consequently proved to be a sign of childhood multiple sclerosis.......We present a case of a 12-year-old boy with eight-and-a-half syndrome that consequently proved to be a sign of childhood multiple sclerosis....

  9. Brain magnetic resonance imaging findings in patients with systemic sclerosis.

    Science.gov (United States)

    Mohamed, Reem H A; Nassef, Amr A

    2010-02-01

    Systemic sclerosis is a multisystem disease where functional and structural abnormalities of small blood vessels prevail. Recently, transient ischemic attacks, ischemic stroke, and hemorrhages have been reported as primary consequence of vascular central nervous system affection in systemic sclerosis. Magnetic resonance imaging (MRI) is considered to be the most sensitive diagnostic technique for detecting symptomatic and asymptomatic lesions in the brain in cases of multifocal diseases. Evaluate brain changes in patients with systemic sclerosis using MRI. Thirty female patients with systemic sclerosis aged 27-61 years, with disease duration of 1-9 years and with no history of other systemic disease or cerebrovascular accidents, were enrolled. An age-matched female control group of 30 clinically normal subjects, underwent brain MR examination. Central nervous system involvement in the form of white matter hyperintense foci of variable sizes were found in significantly abundant forms in systemic sclerosis patients on MR evaluation than in the age-related control group, signifying a form of central nervous system vasculopathy. Such foci showed no definite correlation with disease duration, yet they showed significant correlation to severity of peripheral vascular disease, headaches, fainting attacks and depression in the group under study. Asymptomatic as well as symptomatic central nervous system ischemic vasculopathy is not uncommon in systemic sclerosis patients and MRI is considered a sensitive noninvasive screening tool for early detection of CNS involvement in patients with systemic sclerosis.

  10. 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...

  11. 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.

  12. Concurrent multiple sclerosis and amyotrophic lateral sclerosis: where inflammation and neurodegeneration meet?

    Directory of Open Access Journals (Sweden)

    Li Grace

    2012-01-01

    Full Text Available Abstract The concurrence of multiple sclerosis (MS and amyotrophic lateral sclerosis (ALS is exceedingly rare and the pathological features have not been examined extensively. Here we describe the key pathological features of a 40 year old man with pathologically confirmed concurrent MS and ALS. This is the most pathologically illustrative case of coincident MS and ALS demonstrating inflammatory and neurodegenerative features characteristic of each disease, and is the first to exhibit the presence of TDP-43 inclusions in this clinical entity. The intricate relationship between neuroinflammation and neurodegeneration in these diseases is discussed.

  13. Gastric antral vascular ectasia--a cause of refractory anaemia in systemic sclerosis.

    LENUS (Irish Health Repository)

    Busteed, S

    2012-02-03

    Recurrent gastrointestinal haemorrhage is an uncommon manifestation of systemic sclerosis. We report a case of gastrointestinal bleeding due to gastric antral vascular ectasia (GAVE) in a patient with systemic sclerosis. Failure to recognise the condition as a cause of gastrointestinal bleeding may delay the instigation of appropriate treatment. GAVE should be considered in the differential diagnosis of anaemia in patients with autoimmune conditions such as systemic sclerosis and primary biliary cirrhosis.

  14. Multiple sclerosis; Multiple Sklerose

    Energy Technology Data Exchange (ETDEWEB)

    Grunwald, I.Q.; Kuehn, A.L.; Backens, M.; Papanagiotou, P. [Universitaet des Saarlandes, Abteilung fuer Diagnostische und Interventionelle Neuroradiologie, Radiologische Klinik, Homburg/Saar (Germany); Shariat, K. [Universitaet des Saarlandes, Klinik fuer Neurochirurgie, Homburg/Saar (Germany); Kostopoulos, P. [Universitaet des Saarlandes, Klinik fuer Neurologie, Homburg/Saar (Germany)

    2008-06-15

    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.) [German] Die Multiple Sklerose (MS) ist die haeufigste chronisch-entzuendliche Erkrankung des Myelins mit eingesprengten Laesionen im Bereich der weissen Substanz des zentralen Nervensystems. Die Magnetresonanztomographie (MRT) hat bei der Diagnosestellung und Verlaufskontrolle eine Schluesselrolle. Dieser Artikel befasst sich mit Hauptcharakteristika der MR-Bildbebung. (orig.)

  15. Influence of Cultivar and Planting Material on Soluble Dry Matter Content of Dahlia Tubers

    Directory of Open Access Journals (Sweden)

    Ioana Ciobanu

    2016-11-01

    Full Text Available The aim of present paper was to study the influence ofthe planting material (forced and unforced tuberous roots, and of the cultivar on the average soluble dry matter content (% from Dahlia tuberous roots at harvest. Also, there were determined a series of relationships between soluble dry matter content and main plant characteristics, like average shoots per plant and average weight of the tuberous roots at harvesting. The study was conducted for two years at University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca on seven cultivars of Dahlia variabilis ‘cactus’ type: 'Kennemerland', 'TsukiYori No Sisha', 'Hayley Jane', 'Purple Gem', 'Star Favourite', 'Park Princess' and 'Friquolet'. Based on the results obtained it can be concluded that the forcing of the tuberous roots affected the accumulation of soluble dry matter content at dahlia tubers, but it also depends on the cultivar. The highest content of soluble dry matter was at following cultivars 'Star Favourite'/forced tubers (25.47%, 'TsukiYori No Sisha'/unforced tubers (24.80%, ‘Kennemerland’/unforced tubers (24.27%, 'Hayley Jane'/forced tubers (23.97%, and 'TsukiYori No Sisha'/forced tubers (22.57%. These dahlia cultivars can be recommended for inulin extraction.

  16. Dynamic proteomic profile of potato tuber during its in vitro development.

    Science.gov (United States)

    Yu, Jae Woong; Choi, Jong-Soon; Upadhyaya, Chandrama Prakash; Kwon, Sang Oh; Gururani, Mayank Anand; Nookaraju, Akula; Nam, Ju-Hyun; Choi, Chi-Won; Kim, Seung Il; Ajappala, Hemavathi; Kim, Hyun Soon; Jeon, Jae Heung; Park, Se Won

    2012-10-01

    Potato tuberization is a complicated biochemical process, which is dependent on external environmental factors. Tuber development in potato consists of a series of biochemical and morphological processes at the stolon tip. Signal transduction proteins are involved in the source-sink transition during potato tuberization. In the present study, we examined protein profiles under in vitro tuber-inducing conditions using a shotgun proteomic approach involving denaturing gel electrophoresis and liquid chromatography-mass spectrometry. A total of 251 proteins were identified and classified into 9 groups according to distinctive expression patterns during the tuberization stage. Stolon stage-specific proteins were primarily involved in the photosynthetic machinery. Proteins specific to the initial tuber stage included patatin. Proteins specific to the developing tuber stage included 6-fructokinase, phytoalexin-deficient 4-1, metallothionein II-like protein, and malate dehydrogenase. Novel stage-specific proteins identified during in vitro tuberization were ferredoxin-NADP reductase, 34 kDa porin, aquaporin, calmodulin, ripening-regulated protein, and starch synthase. Superoxide dismutase, dehydroascorbate reductase, and catalase I were most abundantly expressed in the stolon; however, the enzyme activities of these proteins were most activated at the initial tuber. The present shotgun proteomic study provides insights into the proteins that show altered expression during in vitro potato tuberization. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  17. 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.

  18. Clinical Characteristics of Pediatric-Onset and Adult-Onset Multiple Sclerosis in Hispanic Americans.

    Science.gov (United States)

    Langille, Megan M; Islam, Talat; Burnett, Margaret; Amezcua, Lilyana

    2016-07-01

    Multiple sclerosis can affect pediatric patients. Our aim was to compare characteristics between pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanic Americans. This was a cross-sectional analysis of 363 Hispanic American multiple scleroses cases; demographic and clinical characteristics were analyzed. A total of 110 Hispanic patients presented with multiple sclerosis before age 18 and 253 as adult multiple sclerosis. The most common presenting symptoms for both was optic neuritis. Polyfocal symptoms, seizures, and cognitive symptoms at presentation were more prevalent in pediatric-onset multiple sclerosis (P ≤ .001). Transverse myelitis was more frequent in adult-onset multiple sclerosis (P ≤ .001). Using multivariable analysis, pediatric-onset multiple sclerosis (adjusted odds ratio, 0.3OR 95% confidence interval 0.16-0.71, P = .004) and being US born (adjusted odds ratio, 0.553, 95% confidence interval 0.3-1.03, P = .006) were less likely to have severe ambulatory disability. Results suggest that pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanics have differences that could be important for treatment and prognosis. © The Author(s) 2016.

  19. Fulminant form of multiple sclerosis simulating brain tumor: A case with parkinsonian features and pathologic study Forma fulminante de esclerose múltipla simulando tumor cerebral: um caso com sinais parkinsonianos e estudo patológico

    Directory of Open Access Journals (Sweden)

    Pa. Maranhão-Filho

    1995-09-01

    Full Text Available We describe the case of a 48 year- old man in whom the clinical features, CT and MR scans were suggestive of a brain tumor but, posteriorly, another MRI study, CSF examination and brain biopsy supported the diagnosis of multiple sclerosis. Interestingly, this patient presented parkinsonian features, probably in connection with the underlying disease.Os autores descrevem o caso de um paciente com 48 anos de idade cujos sinais e sintomas, TC e RM foram sugestivos de tumor cerebral mas, posteriormente, nova RM, estudo do LCR e biopsia cerebral sustentaram o diagnóstico de esclerose múltipla. Curiosamente, no transcurso da enfermidade este paciente apresentou parkinsonismo, provavelmente relacionado com a doença de base.

  20. Acute form of multiple sclerosis in a child simulation encephalitis

    International Nuclear Information System (INIS)

    Niagolova, S.; Karapasheva, V.; Nikolova, M.

    2007-01-01

    Multiple sclerosis (MS) is considered the most common demyelinating process involving the CNS. Although usually considered an adult disease multiple sclerosis can begin to manifest during childhood. The clinical presentation of the disease in early childhood can range from paraesthesias to dramatic presentations, suggesting diffuse encephalopathy with cerebral oedema, meningismus and impaired consciousness. Multiple sclerosis is usually characterized by a typical relapsing-remitting clinical course. But there are acute, clinically fulminant forms with atypical. neurologic symptoms and death in months. MRI has become increasingly relevant in the diagnosis of multiple sclerosis in the past years. Yet, the specificity is limited. Atypical forms of MS and other diseases of CNS may show similar patterns on MRI. We report a case of 7 years old boy with clinically fulminant Marburg type of multiple sclerosis that ended with death in two months. The patient was a diagnostic problem despite the certain degree of clinical and radiological suspicion. The postmortem diagnosis is based on pathomorphologic changes (gross pathologic and microscopic features) in CNS.The present case is of clinical, radiological and pathomorphologic interest because of its early onset in childhood, unusual clinical course and acute progression. Awareness of the MRI features of multiple sclerosis and MS-variants (subtypes) may help in such atypical presentations in childhood. (authors)