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Sample records for infantile tremor syndrome

  1. Rare association of central pontine myelinolysis with infantile tremor syndrome

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    Kalpana Datta

    2012-01-01

    Full Text Available Central pontine myelinolysis (CPM is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS. ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO protocol for protein energy malnutrition (PEM and administration of propranolol without any side effects.

  2. STUDY OF CLINICO- EPIDEMIOLOGICAL PROFILE OF PATIENTS ADMITTED WITH INFANTILE TREMOR SYNDROME (ITS AND STATUS OF TRACE ELEMENTS (ZINC, COPPER DEFICIENCY IN THEM

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    Mohan Makwana

    2017-03-01

    Full Text Available BACKGROUND Under nutrition is one of the major problems in the field of Paediatrics. The greatest risk of malnutrition is in the first two years of life. The effects of this early damage on health, brain development, intelligence, educability and productivity are potentially reversible. The current study was an attempt to find out the clinico epidemiological profile, evaluate them for trace elements deficiency and most appropriate management options in those who are admitted with infantile tremor syndrome. MATERIALS AND METHODS The current study was a hospital based cross sectional study that was conducted in the Department of Paediatrics, Dr. S. N. Medical College Jodhpur. Duration of study was One Year. Any child up to the age of three years of age admitted in the paediatric wards with typical features of infantile tremor syndrome. RESULTS Maximum numbers of patients were found between 6 months to 12 months of age, there was slight male predominance. The majority of infants in our study (85% were exclusively breast fed, 66% of cases were having low serum Copper level. 9% of cases were having low serum zinc level. 8% of cases were having low serum copper level with tremors. CONCLUSION In our study the fact that NTS is mainly seen in children who are exclusively breast feed for a longer period with delayed introduction of weaning foods. The main presenting features remain developmental delay, hyper pigmentation and anemia. Among nutritional factors, deficiency of copper and zinc in children plays a big role in development of disease. Thus to prevent the development of nutritional tremor syndrome stress should be on early timely introduction of weaning foods, especially rich in copper and zinc. What is already known about this Study- low levels of trace elements like copper and zinc may be responsible for typical clinical manifestations in patients of infantile tremor syndrome. Pronged and Exclusive breast feeding further aggravate these features

  3. Tremors and Klinefelter's Syndrome

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    Marcie L. Rabin

    2015-06-01

    Full Text Available Background: Klinefelter’s syndrome (KS has been associated with tremor, but reports on tremor phenomenology and treatment are limited. Case Reports: Patient 1 is a 17‐year‐old male with a dystonic tremor treated with deep brain stimulation (DBS. Patient 2 is a 57‐year‐old male with a predominant left hand resting tremor and dystonic features. Discussion: Our cases suggest that the tremor in patients with KS may be dystonic in nature. Patient 1 is also the third reported case of successful treatment with DBS. These cases have implications for elucidating the underlying neurobiological mechanism of tremor and identifying treatment options.

  4. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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    Albanese, Alberto; Sorbo, Francesca Del

    2016-01-01

    Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known form...

  5. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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    Alberto Albanese

    2016-04-01

    Full Text Available Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results: The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion: Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia.

  6. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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    Albanese, Alberto; Sorbo, Francesca Del

    2016-01-01

    Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

  7. Linear Nevus Sebaceum Syndrome and Infantile Spasms

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    J Gordon Millichap

    2008-03-01

    Full Text Available Two infants with linear nevus sebaceum syndrome and infantile spasms are reported from Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Israel; and Hospital for Sick Children, Toronto, Canada.

  8. Fragile X-associated tremor/ataxia syndrome.

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    Hoem, Gry; Koht, Jeanette

    2017-10-31

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There is reason to believe that too few individuals in Norway undergo testing for this condition.

  9. Tremor

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    Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and ...

  10. Tremor: Tremor:

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    Georgiev, Dejan; Kragelj, Veronika; Pirtošek, Zvezdan; Ribarič, Samo

    2012-01-01

    Tremor is one of the most common disorders in the population of patients diagnosed with movement disorders. In the literature we find several classifications and different types of tremors. Each tremor type has its own characteristics. The most frequently used and widely accepted tremor classification divides tremors according to clinical appearance. First, they are roughly divided into resting tremor and action tremor. Action tremor is then subdivided into postural, kinetic, intention, task ...

  11. Tremor

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    ... and down or closing and opening the eyes. Intention tremor is produced with purposeful movement toward a ... by any movement such as holding a heavy book or a dumbbell in the same position. top ...

  12. Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome.

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    Hall, Deborah A; O'Keefe, Joan A

    2013-11-01

    This article summarizes the clinical findings, genetics, pathophysiology, and treatment of fragile X-associated tremor ataxia syndrome. The disorder occurs from a CGG repeat (55-200) expansion in the fragile X mental retardation 1 gene. It manifests clinically in kinetic tremor, gait ataxia, and executive dysfunction, usually in older men who carry the genetic abnormality. The disorder has distinct radiographic and pathologic findings. Symptomatic treatment is beneficial in some patients. The inheritance is X-linked and family members may be at risk for other fragile X-associated disorders. This information is useful to neurologists, general practitioners, and geneticists. Copyright © 2013. Published by Elsevier Inc.

  13. Dementia in Fragile X-associated Tremor/Ataxia Syndrome

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    Ricardo Nitrini

    Full Text Available Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient's grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition.

  14. Tremor

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    ... clothes with Velcro fasteners or using button hooks Cooking or eating with utensils that have a larger handle Using a sippy cup to drink Wearing slip-on shoes and using shoehorns When to Contact a Medical Professional Call your provider if your tremor: Is worse ...

  15. Defining Dystonic Tremor

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    Elble, Rodger J

    2013-01-01

    A strong association between dystonia and tremor has been known for more than a century. Two forms of tremor in dystonia are currently recognized: 1) dystonic tremor, which is tremor produced by dystonic muscle contraction and 2) tremor associated with dystonia, which is tremor in a body part that is not dystonic, but there is dystonia elsewhere. Both forms of tremor in dystonia frequently resemble essential tremor or another pure tremor syndrome (e.g., isolated head and voice tremors and tas...

  16. Genetics Home Reference: fragile X-associated tremor/ataxia syndrome

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    ... Share: Email Facebook Twitter Home Health Conditions FXTAS Fragile X-associated tremor/ataxia syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Fragile X-associated tremor/ataxia syndrome ( FXTAS ) is characterized by ...

  17. Infantile Short Bowel Syndrome: short and long term evaluation

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    J.F. Olieman (Joanne)

    2009-01-01

    textabstractInfantile short bowel syndrome is a condition which is characterized by malabsorption of nutrients, as a result of congenital intestinal shortening or massive small bowel resection. Survival rates have improved over the years, but morbidity remains high and clinical management of these

  18. Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia.

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    Kalus, Sarah; King, John; Lui, Elaine; Gaillard, Frank

    2016-01-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder resulting from a fragile X "premutation", defined as 55-200 CGG repeats in the 5'-untranslated region of the FMR1 gene. The FMR1 premutation occurs in 1/800 males and 1/250 females, with FXTAS affecting 40-45% of male and 8-16% of female premutation carriers over the age of 50. FXTAS typically presents with kinetic tremor and cerebellar ataxia. FXTAS has a classical imaging profile which, in concert with clinical manifestations and genetic testing, participates vitally in its diagnosis. The revised FXTAS diagnostic criteria include two major radiological features. The "MCP sign", referring to T2 hyperintensity in the middle cerebellar peduncle, has long been considered the radiological hallmark of FXTAS. Recently included as a major radiological criterion in the diagnosis of FXTAS is T2 hyperintensity in the splenium of the corpus callosum. Other imaging features of FXTAS include T2 hyperintensities in the pons, insula and periventricular white matter as well as generalised brain and cerebellar atrophy. FXTAS is an under-recognised and misdiagnosed entity. In patients with unexplained tremor, ataxia and cognitive decline, the presence of middle cerebellar peduncle and/or corpus callosum splenium hyperintensity should raise suspicion of FXTAS. Diagnosis of FXTAS has important implications not only for the patient but also, through genetic counselling and testing, for future generations. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Fragile X syndrome and fragile X-associated tremor ataxia syndrome.

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    Hall, Deborah A; Berry-Kravis, Elizabeth

    2018-01-01

    Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy. Fragile X-associated primary ovarian insufficiency also occurs in premutation carrier women and manifests with infertility and early menopause. The diseases constituting fragile X-associated disorders differ mechanistically, due to the distinct molecular properties of premutation versus full mutations. Fragile X syndrome occurs when there is a lack of fragile X mental retardation protein (FMRP) due to FMR1 methylation and silencing. In fragile X-associated tremor ataxia syndrome, a toxic gain of function is postulated with the production of excess CGG repeat-containing FMR1 mRNA, abnormal translation of the repeat sequence leading to production of polyglycine, polyalanine, and other polypeptides and to outright deficits in translation leading to reduced FMRP at larger premutation sizes. The changes in underlying brain chemistry due to FMR1 mutations have led to therapeutic studies in these disorders, with some progress being made in fragile X syndrome. This paper also summarizes indications for testing, genetic counseling issues, and what the future holds for these disorders. Copyright © 2018 Elsevier B.V. All rights reserved.

  20. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

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    ... Other specialists, eg in the areas of psychiatry, psychology, rehabilitation, urology, cardiology, and movement disorders neurology, may ... problems), tremors, and other symptoms, and MRI findings. History of FXTAS FXTAS was first described in five ...

  1. High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

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    Basuta, Kirin; Schneider, Andrea; Gane, Louise; Polussa, Jonathan; Woodruff, Bryan; Pretto, Dalyir; Hagerman, Randi; Tassone, Flora

    2015-09-01

    Fragile X syndrome (FXS) affects individuals with more than 200 CGG repeats (full mutation) in the fragile X mental retardation 1 (FMR1) gene. Those born with FXS experience cognitive and social impairments, developmental delays, and some features of autism spectrum disorders. Carriers of a premutation (55-200 CGG repeats) are generally not severely affected early in life; however, are at high risk of developing the late onset neurodegenerative disorder, Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), or Fragile X-associated Primary Ovarian Insufficiency (FXPOI), and may have other medical conditions such as developmental delay, autism spectrum disorders, hypertension, anxiety, and immune-mediated disorders. Here we present a case of a 58-year-old man with a borderline IQ, average memory skills, and executive function deficits. He met criteria for multiple psychiatric diagnoses and presented with tremor and ataxia, meeting criteria for FXTAS. Molecular testing unveiled a completely unmethylated FMR1 full mutation in peripheral blood mononucleated cells with elevated FMR1 mRNA and premutation alleles of different sizes in two other tissues (primary fibroblasts and sperm), indicating the presence of allele instability based on both inter- and intra-tissue mosaicism. The observation of FXTAS in this case of a full mutation mosaic man suggests that the pathogenic mechanism underlying this disorder is not observed exclusively in premutation carriers as it was originally thought. The concomitant presence of features of FXS and late onset neurological deterioration with probable FXTAS likely result from a combined molecular pathology of elevated FMR1 mRNA levels, a molecular hallmark of FXTAS and low FMRP expression that leads to FXS. © 2015 Wiley Periodicals, Inc.

  2. Shaken baby syndrome manifesting as infantile spasms seizure type

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    Der-Shiun Wang

    2014-01-01

    Full Text Available The diagnosis of child maltreatment leading to head injury is challenging. Here, we present the case of a 3-month-old female infant who presented with focal seizures that lasted for several minutes. After admission, she began to show intermittent clusters of head nods, irritable crying, arching, writhing, stiffening, and jerking of both arms. These results and electroencephalography findings were attributed as the diagnosis of infantile spasms (IS. Brain computed tomography and magnetic resonance imaging (MRI revealed the presence of chronic subdural hematoma mixed with acute ischemic injuries. Examination of the eye fundus confirmed the presence of retinal hemorrhage. Therefore, all evidence pointed to a diagnosis of shaken baby syndrome (SBS. Based on this case, we suggest that physicians should consider a diagnosis of SBS for children with new-onset IS and that should be evaluated, diagnosed, and treated as promptly as possible.

  3. Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.

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    Niu, Yu-Qiong; Yang, Jin-Chen; Hall, Deborah A; Leehey, Maureen A; Tassone, Flora; Olichney, John M; Hagerman, Randi J; Zhang, Lin

    2014-04-01

    Parkinsonian features have been used as a minor diagnostic criterion for fragile X-associated tremor/ataxia syndrome (FXTAS). However, prior studies have examined parkinsonism (defined as having bradykinesia with at least rest tremor or postural instability) mostly in premutation carriers without a diagnosis of FXTAS. The current study was intended to elaborate this important aspect of the FXTAS spectrum, and to quantify the relationships between parkinsonism, FXTAS clinical staging and genetic/molecular measures. Thirty eight (38) FXTAS patients and 10 age-matched normal controls underwent a detailed neurological examination that included all but one item (i.e. rigidity) of the motor section of the Unified Parkinson's Disease Rating Scale (UPDRS). The FXTAS patient group displayed substantially higher prevalence of parkinsonian features including body bradykinesia (57%) and rest tremor (26%), compared to the control group. Furthermore, parkinsonism was identified in 29% of FXTAS patients. Across all patients, body bradykinesia scores significantly correlated with FXTAS clinical stage, FMR1 mRNA level, and ataxic gait of cerebellar origin, while postural instability was associated with intention tremor. Parkinsonian features in FXTAS appear to be characterized as bradykinesia concurrent with cerebellar gait ataxia, postural instability accompanied by intention tremor, and frequent rest tremor, representing distinctive patterns that highlight the need for further clinical studies including genetic testing for the FMR1 premutation. The association between FMR1 mRNA level and bradykinesia implicates pathophysiological mechanisms which may link FMR1 mRNA toxicity, dopamine deficiency and parkinsonism in FXTAS. Copyright © 2014 Elsevier Ltd. All rights reserved.

  4. Deep Brain Stimulation for Tremor Associated with Underlying Ataxia Syndromes: A Case Series and Discussion of Issues

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    Genko Oyama

    2014-07-01

    Full Text Available Background: Deep brain stimulation (DBS has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor. Though ataxia syndromes have not been formally or frequently addressed with DBS, there are patients with ataxia and associated medication refractory tremor or dystonia who may potentially benefit from therapy.Methods: A retrospective database review was performed, searching for cases of ataxia where tremor and/or dystonia were addressed by utilizing DBS at the University of Florida Center for Movement Disorders and Neurorestoration between 2008 and 2011. Five patients were found who had DBS implantation to address either medication refractory tremor or dystonia. The patient's underlying diagnoses included spinocerebellar ataxia type 2 (SCA2, fragile X associated tremor ataxia syndrome (FXTAS, a case of idiopathic ataxia (ataxia not otherwise specified [NOS], spinocerebellar ataxia type 17 (SCA17, and a senataxin mutation (SETX.Results: DBS improved medication refractory tremor in the SCA2 and the ataxia NOS patients. The outcome for the FXTAS patient was poor. DBS improved dystonia in the SCA17 and SETX patients, although dystonia did not improve in the lower extremities of the SCA17 patient. All patients reported a transient gait dysfunction postoperatively, and there were no reports of improvement in ataxia‐related symptoms.Discussion: DBS may be an option to treat tremor, inclusive of dystonic tremor in patients with underlying ataxia; however, gait and other symptoms may possibly be worsened.Erratum published on July 27, 2016

  5. Oculomotor neurocircuitry, a structural connectivity study of infantile nystagmus syndrome.

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    Nasser H Kashou

    Full Text Available Infantile nystagmus syndrome (INS is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI. Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics. The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left, brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS.

  6. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS and related neurological problems

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    Randi J Hagerman

    2008-06-01

    Full Text Available Randi J Hagerman1,2, Deborah A Hall3, Sarah Coffey1,2, Maureen Leehey3, James Bourgeois4, John Gould5, Lin Zhang6, Andreea Seritan4, Elizabeth Berry-Kravis7–9, John Olichney6, Joshua W Miller10, Amy L Fong11, Randall Carpenter12, Cathy Bodine13, Louise W Gane1,2, Edgar Rainin1, Hillary Hagerman1, Paul J Hagerman141M.I.N.D. Institute, 2Department of Pediatrics, 4Department of Psychiatry & Behavioral Sciences, 5Department of Urology, 6Department of Neurology, 10Department of Pathology and Laboratory Medicine, 14Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, CA, USA; 3Department of Neurology, University of Colorado, Denver, CO, USA; 7Department of Pediatrics, Neurology, and Biochemistry, 8Department of Neurological Sciences, 9Department of Biochemistry, Rush University Medical Center, Chicago, IL, USA; 11Physical Edge, Inc., Davis, CA, USA; 12Seaside Therapeutics, Cambridge, MA, USA; 13Department of Physical Medicine and Rehabilitation, University of Colorado Health Sciences Center, Denver, CO, USAAbstract: Fragile X-associated tremor/ataxia syndrome (FXTAS is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats of the fragile X (FMR1 gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently

  7. Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.

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    Walton, Mark M G; Pallus, Adam; Fleuriet, Jérome; Mustari, Michael J; Tarczy-Hornoch, Kristina

    2017-07-01

    Infantile strabismus is characterized by numerous visual and oculomotor abnormalities. Recently nonhuman primate models of infantile strabismus have been established, with characteristics that closely match those observed in human patients. This has made it possible to study the neural basis for visual and oculomotor symptoms in infantile strabismus. In this review, we consider the available evidence for neural abnormalities in structures related to oculomotor pathways ranging from visual cortex to oculomotor nuclei. These studies provide compelling evidence that a disturbance of binocular vision during a sensitive period early in life, whatever the cause, results in a cascade of abnormalities through numerous brain areas involved in visual functions and eye movements. Copyright © 2017 the American Physiological Society.

  8. Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

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    Robertson, Erin E; Hall, Deborah A; McAsey, Andrew R; O'Keefe, Joan A

    2016-08-01

    The purpose of this paper is to review the typical cognitive and motor impairments seen in fragile X-associated tremor/ataxia syndrome (FXTAS), essential tremor (ET), Parkinson disease (PD), spinocerebellar ataxias (SCAs), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP) in order to enhance diagnosis of FXTAS patients. We compared the cognitive and motor phenotypes of FXTAS with each of these other movement disorders. Relevant neuropathological and neuroimaging findings are also reviewed. Finally, we describe the differences in age of onset, disease severity, progression rates, and average lifespan in FXTAS compared to ET, PD, SCAs, MSA, and PSP. We conclude with a flow chart algorithm to guide the clinician in the differential diagnosis of FXTAS. By comparing the cognitive and motor phenotypes of FXTAS with the phenotypes of ET, PD, SCAs, MSA, and PSP we have clarified potential symptom overlap while elucidating factors that make these disorders unique from one another. In summary, the clinician should consider a FXTAS diagnosis and testing for the Fragile X mental retardation 1 (FMR1) gene premutation if a patient over the age of 50 (1) presents with cerebellar ataxia and/or intention tremor with mild parkinsonism, (2) has the middle cerebellar peduncle (MCP) sign, global cerebellar and cerebral atrophy, and/or subcortical white matter lesions on MRI, or (3) has a family history of fragile X related disorders, intellectual disability, autism, premature ovarian failure and has neurological signs consistent with FXTAS. Peripheral neuropathy, executive function deficits, anxiety, or depression are supportive of the diagnosis. Distinct profiles in the cognitive and motor domains between these movement disorders may guide practitioners in the differential diagnosis process and ultimately lead to better medical management of FXTAS patients.

  9. Monocular and binocular development in children with albinism, infantile nystagmus syndrome and normal vision

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    Huurneman, B.; Boonstra, F.N.

    2013-01-01

    Background/aims: To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Methods: Interocular acuity differences and

  10. Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision

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    Huurneman, B.; Boonstra, F.N.

    2013-01-01

    Abstract Background/aims: To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Methods: Interocular acuity

  11. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.

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    Foote, Molly; Arque, Gloria; Berman, Robert F; Santos, Mónica

    2016-10-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some carriers of the fragile X premutation (PM). In PM carriers, there is a moderate expansion of a CGG trinucleotide sequence (55-200 repeats) in the fragile X gene (FMR1) leading to increased FMR1 mRNA and small to moderate decreases in the fragile X mental retardation protein (FMRP) expression. The key symptoms of FXTAS include cerebellar gait ataxia, kinetic tremor, sensorimotor deficits, neuropsychiatric changes, and dementia. While the specific trigger(s) that causes PM carriers to progress to FXTAS pathogenesis remains elusive, the use of animal models has shed light on the underlying neurobiology of the altered pathways involved in disease development. In this review, we examine the current use of mouse models to study PM and FXTAS, focusing on recent advances in the field. Specifically, we will discuss the construct, face, and predictive validities of these PM mouse models, the insights into the underlying disease mechanisms, and potential treatments.

  12. A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

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    Puschmann, A; Pfeiffer, R F; Stoessl, A J; Kuriakose, R; Lash, J L; Searcy, J A; Strongosky, A J; Vilariño-Güell, C; Farrer, M J; Ross, O A; Dickson, D W; Wszolek, Z K

    2011-05-10

    Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS). We describe the clinical, PET, and pathologic characteristics of an extensive kindred from Arkansas with hereditary PD, ET, and RLS. The pedigree contains 138 individuals. Sixty-five family members were examined neurologically up to 3 times from 2004 to 2010. Clinical data were collected from medical records and questionnaires. Genetic studies were performed. Five family members underwent multitracer PET. Two individuals with PD were examined postmortem. Eleven family members had PD with generally mild and slowly progressive symptoms. Age at onset was between 39 and 74 years (mean 59.1, SD 13.4). All individuals treated with l-dopa responded positively. Postural or action tremor was present in 6 individuals with PD, and in 19 additional family members. Fifteen persons reported symptoms of RLS. PET showed reduced presynaptic dopamine function typical of sporadic PD in a patient with PD and ET, but not in persons with ET or RLS. The inheritance pattern was autosomal dominant for PD and RLS. No known pathogenic mutation in PD-related genes was found. Fourteen of the family members with PD, ET, or RLS had depression. Neuropathologic examination revealed pallidonigral pigment spheroid degeneration with ubiquitin-positive axonal spheroids, TDP43-positive pathology in the basal ganglia, hippocampus, and brainstem, and only sparse Lewy bodies. Familial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.

  13. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice

    Science.gov (United States)

    Foote, Molly; Arque, Gloria; Berman, Robert F.; Santos, Mónica

    2016-01-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder that affects some carriers of the Fragile X premutation (PM). In PM carriers there is a moderate expansion of a CGG trinucleotide sequence (55-200 repeats) in the fragile X gene (FMR1) leading to increased FMR1 mRNA and small to moderate decreases in the Fragile X Mental Retardation Protein (FMRP) expression. The key symptoms of FXTAS include cerebellar gait ataxia, kinetic tremor, sensorimotor deficits, neuropsychiatric changes, and dementia. While the specific trigger(s) that cause PM carriers to progress to FXTAS pathogenesis remains elusive, the use of animal models has shed light on the underlying neurobiology of the altered pathways involved in disease development. In this review, we examine the current use of mouse models to study PM and FXTAS, focusing on recent advances in the field. Specifically we will discuss the construct, face and predictive validities of these PM mouse models, the insights into the underlying disease mechanisms and potential treatments. PMID:27255703

  14. MRI-guided focused ultrasound thalamotomy in non-ET tremor syndromes.

    Science.gov (United States)

    Fasano, Alfonso; Llinas, Maheleth; Munhoz, Renato P; Hlasny, Eugen; Kucharczyk, Walter; Lozano, Andres M

    2017-08-22

    To report the 6-month single-blinded results of unilateral thalamotomy with MRI-guided focused ultrasound (MRgFUS) in patients with tremors other than essential tremor. Three patients with tremor due to Parkinson disease, 2 with dystonic tremor in the context of cervicobrachial dystonia and writer's cramp, and 1 with dystonia gene-associated tremor underwent MRgFUS targeting the ventro-intermedius nucleus (Vim) of the dominant hemisphere. The primary endpoint was the reduction of lateralized items of the Tremor Rating Scale of contralateral hemibody assessed by a blinded rater. All patients achieved a statistically significant, immediate, and sustained improvement of the contralateral tremor score by 42.2%, 52.0%, 55.9%, and 52.9% at 1 week and 1, 3, and 6 months after the procedure, respectively. All patients experienced transient side effects and 2 patients experienced persistent side effects at the time of last evaluation: hemitongue numbness and hemiparesis with hemihypoesthesia. Vim MRgFUS is a promising, incision-free, but nevertheless invasive technique to effectively treat tremors other than essential tremor. Future studies on larger samples and longer follow-up will further define its effectiveness and safety. NCT02252380. This study provides Class IV evidence that for patients with tremor not caused by essential tremor, MRgFUS of the Vim improves the tremor of the contralateral hemibody at 6 months. © 2017 American Academy of Neurology.

  15. The fragile x-associated tremor and ataxia syndrome (FXTAS A síndrome de tremor e ataxia associada ao X frágil (FXTAS

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    Leonardo Pires Capelli

    2010-10-01

    Full Text Available FXTAS (Fragile X-associated tremor and ataxia syndrome is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene causes the fragile X syndrome (FXS, the most common cause of inherited mental retardation. Individuals affected by FXTAS generally present intention tremor and gait ataxia that might be associated to specific radiological and/or neuropathological signs. Other features commonly observed are parkinsonism, cognitive decline, peripheral neuropathy and autonomic dysfunction. Nearly a decade after its clinical characterization, FXTAS is poorly recognized in Brazil. Here we present a review of the current knowledge on the clinical, genetic and diagnostic aspects of the disease.A FXTAS (síndrome de tremor e ataxia associada ao X frágil é uma doença neurodegenerativa de início tardio que afeta principalmente homens acima dos 50 anos de idade, portadores de pré-mutação do gene FMR1. A mutação completa desse gene é responsável pela síndrome do cromossomo X frágil (SXF, a causa mais comum de deficiência mental herdada. Indivíduos afetados pela FXTAS geralmente apresentam tremor de intenção e ataxia de marcha que podem estar associados a sinais radiológicos ou neuropatológicos específicos. Outras características comumente observadas são parkinsonismo, declínio cognitivo, neuropatia periférica e disfunções autonômicas. Quase uma década após sua caracterização clínica, a FXTAS é mal conhecida por médicos no Brasil. Esta revisão apresenta o conhecimento atual sobre os aspectos clínicos, genéticos e diagnósticos da síndrome.

  16. Ellis van creveld syndrome with unusual association of essential infantile esotropia

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    D Das

    2010-01-01

    Full Text Available Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six- month-old female infant with Ellis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature.

  17. Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision.

    Science.gov (United States)

    Huurneman, Bianca; Boonstra, F Nienke

    2013-12-01

    To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Interocular acuity differences and binocular summation ratios were compared between groups. Crowding ratios were calculated by dividing the single Landolt C decimal acuity with the crowded Landolt C decimal acuity mono- and binocularly. A linear regression analysis was conducted to investigate the contribution of 5 predictors to the monocular and binocular crowding ratio: nystagmus amplitude, nystagmus frequency, strabismus, astigmatism, and anisometropia. Crowding ratios were higher under mono- and binocular viewing conditions for children with infantile nystagmus syndrome than for children with normal vision. Children with albinism showed higher crowding ratios in their poorer eye and under binocular viewing conditions than children with normal vision. Children with albinism and children with infantile nystagmus syndrome showed larger interocular acuity differences than children with normal vision (0.1 logMAR in our clinical groups and 0.0 logMAR in children with normal vision). Binocular summation ratios did not differ between groups. Strabismus and nystagmus amplitude predicted the crowding ratio in the poorer eye (p = 0.015 and p = 0.005, respectively). The crowding ratio in the better eye showed a marginally significant relation with nystagmus frequency and depth of anisometropia (p = 0.082 and p = 0.070, respectively). The binocular crowding ratio was not predicted by any of the variables. Children with albinism and children with infantile nystagmus syndrome show larger interocular acuity differences than children with normal vision. Strabismus and nystagmus amplitude are significant predictors of the crowding ratio in the poorer eye.

  18. Essential Tremor

    Science.gov (United States)

    ... Treatment There is no definitive cure for essential tremor. Symptomatic drug therapy may include propranolol or other beta blockers and primidone, an anticonvulsant drug. Eliminating tremor "triggers" ...

  19. Infantile ictal apneas in a child with williams-beuren syndrome.

    Science.gov (United States)

    Myers, Kenneth A; McLeod, D Ross; Bello-Espinosa, Luis

    2013-02-01

    Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment

    Directory of Open Access Journals (Sweden)

    Deborah A. Hall

    2012-05-01

    Full Text Available Fragile X-associated tremor/ataxia syndrome (FXTAS is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline. This disorder occurs in both males and females, frequently in families with children who have fragile X syndrome. The clinical features of this disorder, both classic and newly described, are summarized in this paper. In screening studies, fragile X mental retardation 1 (FMR1 gene premutation (55–200 CGG expansions are most frequently seen in men with ataxia who have tested negative for spinocerebellar ataxias. Since the original description, the classic FXTAS phenotype has now been reported in females and in carriers of smaller (45–54 CGG and larger (>200 CGG expansions in FMR1. Premutation carriers may present with a Parkinson disease phenotype or hypotension, rather than with tremor and/or ataxia. Parkinsonism and gait ataxia may also be seen in individuals with gray zone (41–54 CGG expansions. Studies regarding medication to treat the symptoms in FXTAS are few in number and suggest that medications targeted to specific symptoms, such as kinetic tremor or gait ataxia, may be most beneficial. Great progress has been made in regards to FXTAS research, likely given the readily available gene test and the screening of multiple family members, including parents and grandparents, of fragile X syndrome children. Expansion of genotypes and phenotypes in the disorder may suggest that a broader disease definition might be necessary in the future.

  1. Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene.

    Science.gov (United States)

    Hessl, David; Grigsby, Jim

    2016-08-01

    Neuropsychologists have an important role in evaluating patients with fragile X-associated disorders, but most practitioners are unaware of the recently identified neurodegenerative movement disorder known as fragile X-associated tremor ataxia syndrome (FXTAS). The objective of this editorial is to orient the reader to FXTAS and highlight the importance of clinical neuropsychology in describing the fragile X premutation phenotype and the role practitioners may have in assessing and monitoring patients with or at risk for neurodegeneration. We issued a call for papers for the special issue, highlighting the primary objective of familiarizing clinical neuropsychologists with FXTAS, and with the neuropsychological phenotype of both male and female asymptomatic carriers. Eight papers are included, including an overview of the fragile X-associated disorders (Grigsby), a review of the neuroradiological and neurological aspects of FXTAS and how the disorder compares to other movement disorders (O'Keefe et al.), a perspective on the prominence of white matter disease and dementia in FXTAS (Filley), and a review of mouse models of FXTAS (Foote). There are four research papers, including one on self-reported memory problems in FXTAS (Birch et al.), and three papers focused on the neuropsychiatric aspects of the fragile X premutation, a review (Bourgeois), an examination of autism-related traits (Schneider), and a research paper on executive functioning and psychopathology (Grigsby). The issue highlights the importance of awareness of fragile X-associated disorders for neuropsychologists, an awareness that must reach beyond neurodevelopmental aspects related to fragile X syndrome into the realm of neurodegenerative disease and aging.

  2. Fragile X-associated tremor/ataxia syndrome (FXTAS): Pathology and mechanisms

    Science.gov (United States)

    Hagerman, Paul

    2013-01-01

    Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized rather narrowly as an adult-onset movement disorder, the definition of FXTAS is broadening; moreover, the disorder is now recognized as only one facet of a much broader clinical pleiotropy among children and adults who carry premutation alleles of the FMR1 gene. Furthermore, the intranuclear inclusions of FXTAS, once thought to be a CNS-specific marker of the disorder, are now known to be widely distributed in multiple non-CNS tissues; this observation fundamentally changes our concept of the disease, and may provide the basis for understanding the diverse medical problems associated with the premutation. Recent work on the pathogenic mechanisms underlying FXTAS indicates that the origins of the late-onset neurodegenerative disorder actually lie in early development, raising the likelihood that all forms of clinical involvement among premutation carriers have a common underlying mechanistic basis. There has also been great progress in our understanding of the triggering event(s) in FXTAS pathogenesis, which is now thought to involve sequestration of one or more nuclear proteins involved with microRNA biogenesis. Moreover, there is mounting evidence that mitochondrial dysregulation contributes to the decreased cell function and loss of viability, evident in mice even during the neonatal period. Taken together, these recent findings offer hope for early interventions for FXTAS, well before the onset of overt disease, and for the treatment of other forms of clinical involvement among premutation carriers. PMID:23793382

  3. Essential tremor

    Science.gov (United States)

    ... such as: Smoking and smokeless tobacco Overactive thyroid ( hyperthyroidism ) Suddenly stopping alcohol after drinking a lot for ... from the medicines used to treat your tremor Prevention Alcoholic beverages in small quantities may decrease tremors. ...

  4. Functional tremor.

    Science.gov (United States)

    Schwingenschuh, P; Deuschl, G

    2016-01-01

    Functional tremor is the commonest reported functional movement disorder. A confident clinical diagnosis of functional tremor is often possible based on the following "positive" criteria: a sudden tremor onset, unusual disease course, often with fluctuations or remissions, distractibility of the tremor if attention is removed from the affected body part, tremor entrainment, tremor variability, and a coactivation sign. Many patients show excessive exhaustion during examination. Other somatizations may be revealed in the medical history and patients may show additional functional neurologic symptoms and signs. In cases where the clinical diagnosis remains challenging, providing a "laboratory-supported" level of certainty aids an early positive diagnosis. In rare cases, in which the distinction from Parkinson's disease is difficult, dopamine transporter single-photon emission computed tomography (DAT-SPECT) can be indicated. © 2016 Elsevier B.V. All rights reserved.

  5. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    Energy Technology Data Exchange (ETDEWEB)

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  6. Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome.

    Science.gov (United States)

    Ram, Suresh; Devapriya, Inoka A; Fenton, Grace; Mcvay, Lindsey; Nguyen, Danh V; Tassone, Flora; Maselli, Ricardo A; Hagerman, Randi J

    2015-08-01

    In this study we examined whether females with the fragile X-associated tremor ataxia syndrome (FXTAS) and non-FXTAS premutation carriers have electrophysiological signs of underlying peripheral neuropathy. Nerve conduction studies (NCS) were performed on 19 women with FXTAS, 20 non-FXTAS carriers, and 26 age-matched controls. The results were compared with existing data on corresponding male carriers. Women with FXTAS and non-FXTAS carriers had reduced sensory nerve action potential amplitudes. Also, there was a strong trend for reduced compound muscle action potential amplitudes in women with FXTAS, but not in non-FXTAS carriers. No significant slowing of nerve conduction velocities, prolongation of F-wave latencies, or associations with molecular measures was observed. This study suggests an underlying axonal neuropathy in women with FXTAS. However, in comparison to men with FXTAS, the NCS abnormalities in women were less severe, possibly due to the effect of a normal X chromosome. © 2014 Wiley Periodicals, Inc.

  7. Simultaneous transcatheter closure of intralobar pulmonary sequestration and patent ductus arteriosus in a patient with infantile Scimitar syndrome.

    Science.gov (United States)

    Aslan, Eyüp; Tanıdır, İbrahim Cansaran; Saygı, Murat; Onan, Sertaç Hanedan; Güzeltaş, Alper

    2015-03-01

    Scimitar syndrome is a rare disease associated with a right lung sequestration vascularised by arteries arising from the abdominal aorta and abnormal venous drainage into the inferior vena cava. The infantile form is generally presented with severe heart failure, pulmonary hypertension and respiratory distress. It may be associated with various intracardiac defects, including atrial septal defects, ventricular septal defects, patent ductus arteriosus or more complicated structural congenital heart defects. Here, we present a 2-month-old girl with Scimitar syndrome whose pulmonary arterial pressure decreased after transcatheter patent ductus arteriosus closure and embolization of the anomalous systemic arterial supply.

  8. Surgery for Dystonia and Tremor.

    Science.gov (United States)

    Crowell, Jason L; Shah, Binit B

    2016-03-01

    Surgical procedures for dystonia and tremor have evolved over the past few decades, and our understanding of risk, benefit, and predictive factors has increased substantially in that time. Deep brain stimulation (DBS) is the most utilized surgical treatment for dystonia and tremor, though lesioning remains an effective option in appropriate patients. Dystonic syndromes that have shown a substantial reduction in severity secondary to DBS are isolated dystonia, including generalized, cervical, and segmental, as well as acquired dystonia such as tardive dystonia. Essential tremor is quite amenable to DBS, though the response of other forms of postural and kinetic tremor is not nearly as robust or consistent based on available evidence. Regarding targeting, DBS lead placement in the globus pallidus internus has shown marked efficacy in dystonia reduction. The subthalamic nucleus is an emerging target, and increasing evidence suggests that this may be a viable target in dystonia as well. The ventralis intermedius nucleus of the thalamus is the preferred target for essential tremor, though targeting the subthalamic zone/caudal zona incerta has shown promise and may emerge as another option in essential tremor and possibly other tremor disorders. In the carefully selected patient, DBS and lesioning procedures are relatively safe and effective for the management of dystonia and tremor.

  9. Essential Tremor Is More Than a Tremor

    Science.gov (United States)

    ... Giving Options Donate Prev Next IETF > About Essential Tremor > Video Video Click to share on Facebook (Opens ... Click to print (Opens in new window) Essential Tremor is More Than a Tremor Providing a voice ...

  10. Essential Tremor Is More Than a Tremor

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    Full Text Available ... Giving Options Donate Prev Next IETF > About Essential Tremor > Video Video Click to share on Facebook (Opens ... Click to print (Opens in new window) Essential Tremor is More Than a Tremor Providing a voice ...

  11. Investigating the relationship between foveal morphology and refractive error in a population with infantile nystagmus syndrome.

    Science.gov (United States)

    Healey, Natasha; McLoone, Eibhlin; Mahon, Gerald; Jackson, A Jonathan; Saunders, Kathryn J; McClelland, Julie F

    2013-04-26

    We explored associations between refractive error and foveal hypoplasia in infantile nystagmus syndrome (INS). We recruited 50 participants with INS (albinism n = 33, nonalbinism infantile nystagmus [NAIN] n = 17) aged 4 to 48 years. Cycloplegic refractive error and logMAR acuity were obtained. Spherical equivalent (SER), most ametropic meridian (MAM) refractive error, and better eye acuity (VA) were used for analyses. High resolution spectral-domain optical coherence tomography (SD-OCT) was used to obtain foveal scans, which were graded using the Foveal Hypoplasia Grading Scale. Associations between grades of severity of foveal hypoplasia, and refractive error and VA were explored. Participants with more severe foveal hypoplasia had significantly higher MAMs and SERs (Kruskal-Wallis H test P = 0.005 and P = 0.008, respectively). There were no statistically significant associations between foveal hypoplasia and cylindrical refractive error (Kruskal-Wallis H test P = 0.144). Analyses demonstrated significant differences between participants with albinism or NAIN in terms of SER and MAM (Mann-Whitney U test P = 0.001). There were no statistically significant differences between astigmatic errors between participants with albinism and NAIN. Controlling for the effects of albinism, results demonstrated no significant associations between SER, and MAM and foveal hypoplasia (partial correlation P > 0.05). Poorer visual acuity was associated statistically significantly with more severe foveal hypoplasia (Kruskal-Wallis H test P = 0.001) and with a diagnosis of albinism (Mann-Whitney U test P = 0.001). Increasing severity of foveal hypoplasia is associated with poorer VA, reflecting reduced cone density in INS. Individuals with INS also demonstrate a significant association between more severe foveal hypoplasia and increasing hyperopia. However, in the absence of albinism, there is no significant relation between refractive outcome and degree of foveal hypoplasia

  12. A Small Molecule that Targets r(CGG)exp and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome

    Science.gov (United States)

    Disney, Matthew D.; Liu, Biao; Yang, Wang-Yong; Sellier, Chantal; Tran, Tuan; Charlet-Berguerand, Nicolas; Childs-Disney, Jessica L.

    2012-01-01

    The development of small molecule chemical probes or therapeutics that target RNA remains a significant challenge despite the great interest in such compounds. The most significant barrier to compound development is a lack of knowledge of the chemical and RNA motif spaces that interact specifically. Herein, we describe a bioactive small molecule probe that targets expanded r(CGG) repeats, or r(CGG)exp , that causes Fragile X-associated Tremor Ataxia Syndrome (FXTAS). The compound was identified by using information on the chemotypes and RNA motifs that interact. Specifically, 9-hydroxy-5,11-dimethyl-2-(2-(piperidin-1-yl)ethyl)-6H-pyrido[4,3-b]carbazol-2-ium, binds the 5’CGG/3’GGC motifs in r(CGG)exp and disrupts a toxic r(CGG)exp -protein complex in vitro. Structure-activity relationships (SAR) studies determined that the alkylated pyridyl and phenolic side chains are important chemotypes that drive molecular recognition to r(CGG)exp . Importantly, the compound is efficacious in FXTAS model cellular systems as evidenced by its ability to improve FXTAS-associated pre-mRNA splicing defects and to reduce the size and number of r(CGG)exp -protein aggregates. This approach may establish a general strategy to identify lead ligands that target RNA while also providing a chemical probe to dissect the varied mechanisms by which r(CGG)exp promotes toxicity. PMID:22948243

  13. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

    NARCIS (Netherlands)

    Poll-The, B. T.; Saudubray, J. M.; Ogier, H. A.; Odièvre, M.; Scotto, J. M.; Monnens, L.; Govaerts, L. C.; Roels, F.; Cornelis, A.; Schutgens, R. B.

    1987-01-01

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present.

  14. Unusual Forehead Tremor in Four Patients with Essential Tremor

    OpenAIRE

    Gascón-Bayarri, Jordi; Campdelacreu, Jaume; Calopa, Màtil; Jaumà, Serge; Bau, Laura; Povedano, Mònica; Montero, Jordi

    2012-01-01

    Forehead tremor has only been reported in two patients with essential tremor, one with rhythmic tremor and the other with dystonic tremor. We report 4 new patients with essential tremor who present a 4–6 Hz frontal tremor registered by electromyography and unusual features like frontal tremor preceding limb tremor or unilateral involvement. Frontal tremor is present in some patients with essential tremor, sometimes preceding limb tremor. Treatment with botulinum toxin may be useful.

  15. Unusual Forehead Tremor in Four Patients with Essential Tremor

    Directory of Open Access Journals (Sweden)

    Jordi Gascón-Bayarri

    2012-01-01

    Full Text Available Forehead tremor has only been reported in two patients with essential tremor, one with rhythmic tremor and the other with dystonic tremor. We report 4 new patients with essential tremor who present a 4–6 Hz frontal tremor registered by electromyography and unusual features like frontal tremor preceding limb tremor or unilateral involvement. Frontal tremor is present in some patients with essential tremor, sometimes preceding limb tremor. Treatment with botulinum toxin may be useful.

  16. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

    Directory of Open Access Journals (Sweden)

    Mohammad K. Eldomery

    2016-11-01

    Full Text Available Abstract Background Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease. Methods Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC, developmental delay (DD, seizures, and severe hypotonia. Proposed pathogenic variants were confirmed by Sanger sequencing or array comparative genomic hybridization. Functional analysis of the identified MIP variants was performed using the model organism Saccharomyces cerevisiae as the protein and its functions are highly conserved from yeast to human. Results Biallelic single nucleotide variants (SNVs or copy number variants (CNVs in MIPEP, which encodes MIP, were present in all four probands, three of whom had infantile/childhood death. Two patients had compound heterozygous SNVs (p.L582R/p.L71Q and p.E602*/p.L306F and one patient from a consanguineous family had a homozygous SNV (p.K343E. The fourth patient, identified through the GeneMatcher tool, a part of the Matchmaker Exchange Project, was found to have inherited a paternal SNV (p.H512D and a maternal CNV (1.4-Mb deletion of 13q12.12 that includes MIPEP. All amino acids affected in the patients’ missense variants are highly conserved from yeast to human and therefore S. cerevisiae was employed for functional analysis (for p.L71Q, p.L306F, and p.K343E. The mutations p.L339F (human p.L306F and p.K376E (human p.K343E resulted in a severe decrease of Oct1 protease activity and accumulation of non-processed Oct1 substrates and consequently impaired viability under respiratory growth conditions. The p.L83Q (human p.L71Q failed to localize to the mitochondria. Conclusions Our findings reveal for the first

  17. Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease

    NARCIS (Netherlands)

    Schram, A. W.; Strijland, A.; Hashimoto, T.; Wanders, R. J.; Schutgens, R. B.; van den Bosch, H.; Tager, J. M.

    1986-01-01

    The biosynthesis of the peroxisomal enzymes acyl-CoA oxidase, 3-oxoacyl-CoA thiolase (acetyl-CoA acyl-transferase, EC 2.3.1.16), and catalase (EC 1.11.1.6) was studied in cultured skin fibroblasts from a control subject and from patients with Zellweger syndrome and the infantile form of Refsum

  18. Tectonic tremor

    Science.gov (United States)

    Shelly, David R.

    2016-01-01

    Tectonic, non-volcanic tremor is a weak vibration of ground, which cannot be felt by humans but can be detected by sensitive seismometers. It is defined empirically as a low-amplitude, extended duration seismic signal associated with the deep portion (∼20–40 km depth) of some major faults. It is typically observed most clearly in the frequency range of 2–8 Hz and is depleted in energy at higher frequencies relative to regular earthquakes.

  19. Tremor in dystonia.

    Science.gov (United States)

    Pandey, Sanjay; Sarma, Neelav

    2016-08-01

    Tremor has been recognized as an important clinical feature in dystonia. Tremor in dystonia may occur in the body part affected by dystonia known as dystonic tremor or unaffected body regions known as tremor associated with dystonia. The most common type of tremor seen in dystonia patients is postural and kinetic which may be mistaken for familial essential tremor. Similarly familial essential tremor patients may have associated dystonia leading to diagnostic uncertainties. The pathogenesis of tremor in dystonia remains speculative, but its neurophysiological features are similar to dystonia which helps in differentiating it from essential tremor patients. Treatment of tremor in dystonia depends upon the site of involvement. Dystonic hand tremor is treated with oral pharmacological therapy and dystonic head, jaw and voice tremor is treated with injection botulinum toxin. Neurosurgical interventions such as deep brain stimulation and lesion surgery should be an option in patients not responding to the pharmacological treatment. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. Essential Tremor Is More Than a Tremor

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  1. Essential Tremor Is More Than a Tremor

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    Full Text Available ... More Than a Tremor Providing a voice for people with essential tremor means also reaching out to ... six-minute video tells the stories of six people living with ET. It goes beyond diagnosis and ...

  2. Essential Tremor Is More Than a Tremor

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    Full Text Available Home About the IETF Volunteer For Healthcare Providers Giving Options Donate Prev Next IETF > About Essential Tremor > ... for Grants Relevant to Essential Tremor IETF Champion Home About the IETF Volunteer For Healthcare Providers Giving ...

  3. Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society.

    Science.gov (United States)

    Bhatia, Kailash P; Bain, Peter; Bajaj, Nin; Elble, Rodger J; Hallett, Mark; Louis, Elan D; Raethjen, Jan; Stamelou, Maria; Testa, Claudia M; Deuschl, Guenther

    2018-01-01

    Consensus criteria for classifying tremor disorders were published by the International Parkinson and Movement Disorder Society in 1998. Subsequent advances with regard to essential tremor, tremor associated with dystonia, and other monosymptomatic and indeterminate tremors make a significant revision necessary. Convene an international panel of experienced investigators to review the definition and classification of tremor. Computerized MEDLINE searches in January 2013 and 2015 were conducted using a combination of text words and MeSH terms: "tremor", "tremor disorders", "essential tremor", "dystonic tremor", and "classification" limited to human studies. Agreement was obtained using consensus development methodology during four in-person meetings, two teleconferences, and numerous manuscript reviews. Tremor is defined as an involuntary, rhythmic, oscillatory movement of a body part and is classified along two axes: Axis 1-clinical characteristics, including historical features (age at onset, family history, and temporal evolution), tremor characteristics (body distribution, activation condition), associated signs (systemic, neurological), and laboratory tests (electrophysiology, imaging); and Axis 2-etiology (acquired, genetic, or idiopathic). Tremor syndromes, consisting of either isolated tremor or tremor combined with other clinical features, are defined within Axis 1. This classification scheme retains the currently accepted tremor syndromes, including essential tremor, and provides a framework for defining new syndromes. This approach should be particularly useful in elucidating isolated tremor syndromes and syndromes consisting of tremor and other signs of uncertain significance. Consistently defined Axis 1 syndromes are needed to facilitate the elucidation of specific etiologies in Axis 2. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  4. Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

    Science.gov (United States)

    Okuda, Hiroko; Noguchi, Atsuko; Kobayashi, Hatasu; Kondo, Daiki; Harada, Kouji H; Youssefian, Shohab; Shioi, Hirotomo; Kabata, Risako; Domon, Yuki; Kubota, Kazufumi; Kitano, Yutaka; Takayama, Yasunori; Hitomi, Toshiaki; Ohno, Kousaku; Saito, Yoshiaki; Asano, Takeshi; Tominaga, Makoto; Takahashi, Tsutomu; Koizumi, Akio

    2016-01-01

    Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated sodium channel subtype, has been established as a genetic influence for certain peripheral pain syndromes. In this study, we performed a genetic study in six unrelated multigenerational Japanese families with episodic pain syndrome. Affected participants (n = 23) were characterized by infantile recurrent pain episodes with spontaneous mitigation around adolescence. This unique phenotype was inherited in an autosomal-dominant mode. Linkage analysis was performed for two families with 12 affected and nine unaffected members, and a single locus was identified on 3p22 (LOD score 4.32). Exome analysis (n = 14) was performed for affected and unaffected members in these two families and an additional family. Two missense variants were identified: R222H and R222S in SCN11A. Next, we generated a knock-in mouse model harboring one of the mutations (R222S). Behavioral tests (Hargreaves test and cold plate test) using R222S and wild-type C57BL/6 (WT) mice, young (8-9 weeks old; n = 10-12 for each group) and mature (36-38 weeks old; n = 5-6 for each group), showed that R222S mice were significantly (p pain. The mouse model developed here will be useful for drug screening for familial episodic pain syndrome associated with SCN11A mutations.

  5. Unusual Wrist Tremor: Unilateral Isometric Tremor?

    Directory of Open Access Journals (Sweden)

    Theresa A. Zesiewicz

    2014-01-01

    Full Text Available Background: Tremors may be difficult to classify.Case Report: An 83‐year‐old male presented with an unusual left wrist tremor. The tremor could be reproducibly elicited by making a fist or carrying a weighted object (e.g., a shopping bag, bottle of water of approximately 1 lb or more, and it intensified with heavier weights. The tremor was difficult to classify, although it shared features with isometric tremor.Discussion: This specific presentation of tremor has not been reported previously. We hope that the detailed description we provide will aid other neurologists who encounter this or similar tremors in their clinics.

  6. A Patient with Fragile X-Associated Tremor/Ataxia Syndrome Presenting with Executive Cognitive Deficits and Cerebral White Matter Lesions

    Directory of Open Access Journals (Sweden)

    Kensaku Kasuga

    2011-05-01

    Full Text Available Fragile X-associated tremor/ataxia syndrome (FXTAS is a late-onset neurodegenerative disorder that primarily affects males who are carriers of a premutation of a CGG expansion in the FMR1 gene. In Asian populations, FXTAS has rarely been reported. Here, we report the case of a Japanese FXTAS patient who showed predominant executive cognitive deficits as the main feature of his disease. In contrast, the patient exhibited only very mild symptoms of intention tremor and ataxia, which did not interfere with daily activities. A gene analysis revealed that the patient carried a premutation of a CGG expansion (111 CGG repeats in the FMR1 gene. The mRNA expression level of FMR1 in the patient was 1.5-fold higher than in controls. On brain MRI scans, fluid-attenuated inversion recovery images showed high-intensity lesions in the middle cerebellar peduncles and the cerebral white matter, with a frontal predominance. The present case extends previous notions regarding the cognitive impairment in FXTAS patients. Recognizing FXTAS patients with predominant cognitive impairment from various ethnic backgrounds would contribute to our understanding of the phenotypic variation of this disease.

  7. Tremor in the elderly

    DEFF Research Database (Denmark)

    Deuschl, Günther; Petersen, Inge; Lorenz, Delia

    2015-01-01

    Isolated tremor in the elderly is commonly diagnosed as essential tremor (ET). The prevalence of tremor increases steeply with increasing age, whereas hereditary tremor is becoming less common. Moreover, late-manifesting tremor seems to be associated with dementia and earlier mortality. We...... hypothesize that different entities underlie tremor in the elderly. Two thousand four hundred forty-eight subjects from the Longitudinal Study of Aging Danish Twins older than 70 y answered screening questions for ET in 2001. Two thousan fifty-six (84%) participants drew Archimedes spirals to measure...

  8. The phenomenology of parkinsonian tremor.

    Science.gov (United States)

    Deuschl, Günther; Papengut, Frank; Hellriegel, Helge

    2012-01-01

    The definition of Parkinsonian tremor covers all different forms occurring in Parkinson's disease. The most common form is rest tremor, labelled as typical Parkinsonian tremor. Other variants cover also postural and action tremors. Data support the notion that suppression of rest tremor may be more specific for PD tremors. Several differential diagnoses like rest tremor in ET, dystonic tremor, psychogenic tremor and Holmes' tremor may be misinterpreted as PD-tremor. Tests and clinical clues to separate them are presented. Copyright © 2011 Elsevier Ltd. All rights reserved.

  9. Treatment of Essential Tremor

    Science.gov (United States)

    ... for PATIENTS and their FAMILIES TREATMENT OF ESSENTIAL TREMOR This fact sheet is provided to help you understand which therapies help treat essential tremor. Neurologists from the American Academy of Neurology are ...

  10. Aicardi's syndrome: (agenesis of the corpus callosum, infantile spasms, and ocular anomalies).

    Science.gov (United States)

    Dinani, S; Jancar, J

    1984-06-01

    A case of Aicardi's syndrome is reported. A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic eye lesions, vertebral anomalies and abnormal EEG pattern. The results of supporting examination and investigations are noted.

  11. Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

    Science.gov (United States)

    O'Keefe, Joan A; Robertson-Dick, Erin; Dunn, Emily J; Li, Yan; Deng, Youping; Fiutko, Amber N; Berry-Kravis, Elizabeth; Hall, Deborah A

    2015-12-01

    Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a "premutation" size 55-200 CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Core motor features include cerebellar gait ataxia and kinetic tremor, resulting in progressive mobility disability. There are no published studies characterizing balance deficits in FMR1 premutation carriers with and without FXTAS using a battery of quantitative measures to test the sensory integration underlying postural control, automatic postural reflexes, and dynamic postural stability limits. Computerized dynamic posturography (CDP) and two performance-based balance measures were administered in 44 premutation carriers, 21 with FXTAS and 23 without FXTAS, and 42 healthy controls to compare balance and functional mobility between these groups. Relationships between FMR1 molecular variables, age, and sex and CDP scores were explored. FXTAS subjects demonstrated significantly lower scores on the sensory organization test (with greatest reductions in the vestibular control of balance), longer response latencies to balance perturbations, and reduced stability limits compared to controls. Premutation carriers without FXTAS also demonstrated significantly delayed response latencies and disrupted sensory weighting for balance control. Advancing age, male sex, increased CGG repeat size, and reduced X activation of the normal allele in premutation carrier women predicted balance dysfunction. These postural control deficits in carriers with and without FXTAS implicate dysfunctional cerebellar neural networks and may provide valuable outcome markers for tailored rehabilitative interventions. Our findings suggest that CDP may provide sensitive measures for early detection of postural control impairments in at-risk carriers and better characterize balance dysfunction and progression in FXTAS.

  12. Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.

    Science.gov (United States)

    Castro, Hoanna; Kul, Emre; Buijsen, Ronald A M; Severijnen, Lies-Anne W F M; Willemsen, Rob; Hukema, Renate K; Stork, Oliver; Santos, Mónica

    2017-06-01

    A CGG-repeat expansion in the premutation range in the Fragile X mental retardation 1 gene (FMR1) has been identified as the genetic cause of Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder that manifests with action tremor, gait ataxia and cognitive impairments. In this study, we used a bigenic mouse model, in which expression of a 90CGG premutation tract is activated in neural cells upon doxycycline administration-P90CGG mouse model. We, here, demonstrate the behavioural manifestation of clinically relevant features of FXTAS patients and premutation carrier individuals in this inducible mouse model. P90CGG mice display heightened anxiety, deficits in motor coordination and impaired gait and represent the first FXTAS model that exhibits an ataxia phenotype as observed in patients. The behavioural phenotype is accompanied by the formation of ubiquitin/FMRpolyglycine-positive intranuclear inclusions, as another hallmark of FXTAS, in the cerebellum, hippocampus and amygdala. Strikingly, upon cessation of transgene induction the anxiety phenotype of mice recovers along with a reduction of intranuclear inclusions in dentate gyrus and amygdala. In contrast, motor function deteriorates further and no reduction in intranuclear inclusions can be observed in the cerebellum. Our data thus demonstrate that expression of a 90CGG premutation expansion outside of the FMR1 context is sufficient to evoke an FXTAS-like behavioural phenotype. Brain region-specific neuropathology and (partial) behavioural reversibility make the inducible P90CGG a valuable mouse model for testing pathogenic mechanisms and therapeutic intervention methods. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life.

    Science.gov (United States)

    Hertle, R W; Maldanado, V K; Maybodi, M; Yang, D

    2002-06-01

    The infantile nystagmus syndrome (INS) usually begins in infancy and may or may not be associated with visual sensory system abnormalities. Little is known about its specific waveforms in the first 6 months of life or their relation to the developing visual system. This study identifies the clinical and ocular motility characteristics of the INS and establishes the range of waveforms present in the first 6 months of life. 27 infants with involuntary ocular oscillations typical of INS are included in this analysis. They were evaluated both clinically and with motility recordings. Eye movement analysis was performed off line from computer analysis of digitised data. Variables analysed included age, sex, vision, ocular abnormalities, head position, and null zone, neutral zone characteristics, symmetry, conjugacy, waveforms, frequencies, and foveation times. Ages ranged from 3 to 6.5 months (average 4.9 months). 15 patients (56%) had abnormal vision for age, nine (33%) had strabismus, five (19%) had an anomalous head posture, 13 (48%) had oculographic null and neutral positions, nine (33%) had binocular asymmetry, and only two showed consistent dysconjugacy. Average binocular frequency was 3.3 Hz, monocular frequency 6.6 Hz. Average foveation periods were longer and more "jerk" wave forms were observed in those patients with normal vision. Common clinical characteristics and eye movement waveforms of INS begin in the first few months of infancy and waveform analysis at this time may help with both diagnosis and visual status.

  14. Laryngoscopy evaluation protocol for the differentiation of essential and dystonic voice tremor.

    Science.gov (United States)

    Moraes, Bruno Teixeira de; Biase, Noemi Grigoletto de

    2016-01-01

    Although syndromes that cause voice tremor have singular characteristics, the differential diagnosis of these diseases is a challenge because of the overlap of the existing signs and symptoms. To develop a task-specific protocol to assess voice tremor by means of nasofibrolaryngoscopy and to identify those tasks that can distinguish between essential and dystonic tremor syndromes. Cross-sectional study. The transnasal fiberoptic laryngoscopy protocol, which consisted of the assessment of palate, pharynx and larynx tremor during the performance of several vocal and non-vocal tasks with distinct phenomenological characteristics, was applied to 19 patients with voice tremor. Patients were diagnosed with essential or dystonic tremor according to the phenomenological characterization of each group. Once they were classified, the tasks associated with the presence of tremor in each syndrome were identified. The tasks that significantly contributed to the differential diagnosis between essential and dystonic tremor were /s/ production, continuous whistling and reduction of tremor in falsetto. These tasks were phenomenologically different with respect to the presence of tremor in the two syndromes. The protocol of specific tasks by means of transnasal fiberoptic laryngoscopy is a viable method to differentiate between essential and dystonic voice tremor syndromes through the following tasks: /s/ production, continuous whistling and reduction of tremor in falsetto. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  15. Autosomal dominant cortical tremor, myoclonus and epilepsy.

    Science.gov (United States)

    Striano, Pasquale; Zara, Federico

    2016-09-01

    The term 'cortical tremor' was first introduced by Ikeda and colleagues to indicate a postural and action-induced shivering movement of the hands which mimics essential tremor, but presents with the electrophysiological findings of cortical reflex myoclonus. The association between autosomal dominant cortical tremor, myoclonus and epilepsy (ADCME) was first recognized in Japanese families and is now increasingly reported worldwide, although it is described using different acronyms (BAFME, FAME, FEME, FCTE and others). The disease usually takes a benign course, although drug-resistant focal seizures or slight intellectual disability occur in some cases. Moreover, a worsening of cortical tremor and myoclonus is common in advanced age. Although not yet recognized by the International League Against Epilepsy (ILAE), this is a well-delineated epilepsy syndrome with remarkable features that clearly distinguishes it from other myoclonus epilepsies. Moreover, genetic studies of these families show heterogeneity and different susceptible chromosomal loci have been identified.

  16. Lessons from (triggered) tremor

    Science.gov (United States)

    Gomberg, Joan

    2010-01-01

    I test a “clock-advance” model that implies triggered tremor is ambient tremor that occurs at a sped-up rate as a result of loading from passing seismic waves. This proposed model predicts that triggering probability is proportional to the product of the ambient tremor rate and a function describing the efficacy of the triggering wave to initiate a tremor event. Using data mostly from Cascadia, I have compared qualitatively a suite of teleseismic waves that did and did not trigger tremor with ambient tremor rates. Many of the observations are consistent with the model if the efficacy of the triggering wave depends on wave amplitude. One triggered tremor observation clearly violates the clock-advance model. The model prediction that larger triggering waves result in larger triggered tremor signals also appears inconsistent with the measurements. I conclude that the tremor source process is a more complex system than that described by the clock-advance model predictions tested. Results of this and previous studies also demonstrate that (1) conditions suitable for tremor generation exist in many tectonic environments, but, within each, only occur at particular spots whose locations change with time; (2) any fluid flow must be restricted to less than a meter; (3) the degree to which delayed failure and secondary triggering occurs is likely insignificant; and 4) both shear and dilatational deformations may trigger tremor. Triggered and ambient tremor rates correlate more strongly with stress than stressing rate, suggesting tremor sources result from time-dependent weakening processes rather than simple Coulomb failure.

  17. Essential Tremor Is More Than a Tremor

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  18. Essential Tremor Is More Than a Tremor

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    Full Text Available ... living with ET. It goes beyond diagnosis and treatments, to explore the emotional and psychosocial aspects of ... FDA Clearance for Cala ONE Wrist Device Neuromodulation Therapy Gives Relief From Hand Tremor IETF Accepting Proposals ...

  19. Essential Tremor Is More Than a Tremor

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  20. Essential Tremor Is More Than a Tremor

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  1. Essential Tremor Is More Than a Tremor

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    Full Text Available Home About the IETF Volunteer For Healthcare Providers Giving Options Donate Prev Next IETF > About Essential Tremor > Video Video Click to share on Facebook (Opens in new window) Click ...

  2. Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

    Directory of Open Access Journals (Sweden)

    Chantal Sellier

    2013-03-01

    Full Text Available Fragile X-associated tremor/ataxia syndrome (FXTAS is an inherited neurodegenerative disorder caused by the expansion of 55–200 CGG repeats in the 5′ UTR of FMR1. These expanded CGG repeats are transcribed and accumulate in nuclear RNA aggregates that sequester one or more RNA-binding proteins, thus impairing their functions. Here, we have identified that the double-stranded RNA-binding protein DGCR8 binds to expanded CGG repeats, resulting in the partial sequestration of DGCR8 and its partner, DROSHA, within CGG RNA aggregates. Consequently, the processing of microRNAs (miRNAs is reduced, resulting in decreased levels of mature miRNAs in neuronal cells expressing expanded CGG repeats and in brain tissue from patients with FXTAS. Finally, overexpression of DGCR8 rescues the neuronal cell death induced by expression of expanded CGG repeats. These results support a model in which a human neurodegenerative disease originates from the alteration, in trans, of the miRNA-processing machinery.

  3. Genetics Home Reference: essential tremor

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Essential tremor Essential tremor Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Essential tremor is a movement disorder that causes involuntary, rhythmic ...

  4. The nature of tremor circuits in parkinsonian and essential tremor

    Science.gov (United States)

    Cagnan, Hayriye; Little, Simon; Foltynie, Thomas; Limousin, Patricia; Zrinzo, Ludvic; Hariz, Marwan; Cheeran, Binith; Fitzgerald, James; Green, Alexander L.; Aziz, Tipu

    2014-01-01

    Tremor is a cardinal feature of Parkinson’s disease and essential tremor, the two most common movement disorders. Yet, the mechanisms underlying tremor generation remain largely unknown. We hypothesized that driving deep brain stimulation electrodes at a frequency closely matching the patient’s own tremor frequency should interact with neural activity responsible for tremor, and that the effect of stimulation on tremor should reveal the role of different deep brain stimulation targets in tremor generation. Moreover, tremor responses to stimulation might reveal pathophysiological differences between parkinsonian and essential tremor circuits. Accordingly, we stimulated 15 patients with Parkinson’s disease with either thalamic or subthalamic electrodes (13 male and two female patients, age: 50–77 years) and 10 patients with essential tremor with thalamic electrodes (nine male and one female patients, age: 34–74 years). Stimulation at near-to tremor frequency entrained tremor in all three patient groups (ventrolateral thalamic stimulation in Parkinson’s disease, P = 0.0078, subthalamic stimulation in Parkinson’s disease, P = 0.0312; ventrolateral thalamic stimulation in essential tremor, P = 0.0137; two-tailed paired Wilcoxon signed-rank tests). However, only ventrolateral thalamic stimulation in essential tremor modulated postural tremor amplitude according to the timing of stimulation pulses with respect to the tremor cycle (e.g. P = 0.0002 for tremor amplification, two-tailed Wilcoxon rank sum test). Parkinsonian rest and essential postural tremor severity (i.e. tremor amplitude) differed in their relative tolerance to spontaneous changes in tremor frequency when stimulation was not applied. Specifically, the amplitude of parkinsonian rest tremor remained unchanged despite spontaneous changes in tremor frequency, whereas that of essential postural tremor reduced when tremor frequency departed from median values. Based on these results we conclude that

  5. Deep brain stimulation in uncommon tremor disorders: indications, targets, and programming.

    Science.gov (United States)

    Artusi, Carlo Alberto; Farooqi, Ashar; Romagnolo, Alberto; Marsili, Luca; Balestrino, Roberta; Sokol, Leonard L; Wang, Lily L; Zibetti, Maurizio; Duker, Andrew P; Mandybur, George T; Lopiano, Leonardo; Merola, Aristide

    2018-03-06

    In uncommon tremor disorders, clinical efficacy and optimal anatomical targets for deep brain stimulation (DBS) remain inadequately studied and insufficiently quantified. We performed a systematic review of PubMed.gov and ClinicalTrials.gov. Relevant articles were identified using the following keywords: "tremor", "Holmes tremor", "orthostatic tremor", "multiple sclerosis", "multiple sclerosis tremor", "neuropathy", "neuropathic tremor", "fragile X-associated tremor/ataxia syndrome", and "fragile X." We identified a total of 263 cases treated with DBS for uncommon tremor disorders. Of these, 44 had Holmes tremor (HT), 18 orthostatic tremor (OT), 177 multiple sclerosis (MS)-associated tremor, 14 neuropathy-associated tremor, and 10 fragile X-associated tremor/ataxia syndrome (FXTAS). DBS resulted in favorable, albeit partial, clinical improvements in HT cases receiving Vim-DBS alone or in combination with additional targets. A sustained improvement was reported in OT cases treated with bilateral Vim-DBS, while the two cases treated with unilateral Vim-DBS demonstrated only a transient effect. MS-associated tremor responded to dual-target Vim-/VO-DBS, but the inability to account for the progression of MS-associated disability impeded the assessment of its long-term clinical efficacy. Neuropathy-associated tremor substantially improved with Vim-DBS. In FXTAS patients, while Vim-DBS was effective in improving tremor, equivocal results were observed in those with ataxia. DBS of select targets may represent an effective therapeutic strategy for uncommon tremor disorders, although the level of evidence is currently in its incipient form and based on single cases or limited case series. An international registry is, therefore, warranted to clarify selection criteria, long-term results, and optimal surgical targets.

  6. Multiple Resting-State Networks Are Associated With Tremors and Cognitive Features in Essential Tremor.

    Science.gov (United States)

    Fang, Weidong; Chen, Huiyue; Wang, Hansheng; Zhang, Han; Liu, Mengqi; Puneet, Munankami; Lv, Fajin; Cheng, Oumei; Wang, Xuefeng; Lu, Xiurong; Luo, Tianyou

    2015-12-01

    The heterogeneous clinical features of essential tremor indicate that the dysfunctions of this syndrome are not confined to motor networks, but extend to nonmotor networks. Currently, these neural network dysfunctions in essential tremor remain unclear. In this study, independent component analysis of resting-state functional MRI was used to study these neural network mechanisms. Thirty-five essential tremor patients and 35 matched healthy controls with clinical and neuropsychological tests were included, and eight resting-state networks were identified. After considering the structure and head-motion factors and testing the reliability of the selected resting-state networks, we assessed the functional connectivity changes within or between resting-state networks. Finally, image-behavior correlation analysis was performed. Compared to healthy controls, essential tremor patients displayed increased functional connectivity in the sensorimotor and salience networks and decreased functional connectivity in the cerebellum network. Additionally, increased functional network connectivity was observed between anterior and posterior default mode networks, and a decreased functional network connectivity was noted between the cerebellum network and the sensorimotor and posterior default mode networks. Importantly, the functional connectivity changes within and between these resting-state networks were correlated with the tremor severity and total cognitive scores of essential tremor patients. The findings of this study provide the first evidence that functional connectivity changes within and between multiple resting-state networks are associated with tremors and cognitive features of essential tremor, and this work demonstrates a potential approach for identifying the underlying neural network mechanisms of this syndrome. © 2015 International Parkinson and Movement Disorder Society.

  7. Stereotactic neurosurgery for tremor

    NARCIS (Netherlands)

    Speelman, Johannes D.; Schuurman, Richard; de Bie, Rob M. A.; Esselink, Rianne A. J.; Bosch, D. Andries

    2002-01-01

    The role of the motor thalamus as surgical target in stereotactic neurosurgery for different kinds of tremor is discussed. For tremor in Parkinson's disease. the subthalamic nucleus becomes more and more often the surgical target, because this target also gives relief of other and more

  8. Infantile inflammatory pseudotumor of the facial nerve as a complication of epidermal nevus syndrome with cholesteatoma.

    Science.gov (United States)

    Hato, Naohito; Tsujimura, Mika; Takagi, Taro; Okada, Masahiro; Gyo, Kiyofumi; Tohyama, Mikiko; Tauchi, Hisamichi

    2013-12-01

    The first reported case of facial paralysis due to an inflammatory pseudotumor (IPT) of the facial nerve as a complication of epidermal nevus syndrome (ENS) is herein presented. A 10-month-old female patient was diagnosed with ENS at 3 months of age. She was referred to us because of moderate left facial paralysis. Epidermal nevi of her left auricle extended deep into the external ear canal. Otoscopy revealed polypous nevi and cholesteatoma debris filling the left ear. Computed tomography showed a soft mass filling the ear canal, including the middle ear, and an enormously enlarged facial nerve. Surgical exploration revealed numerous polypous nevi, external ear cholesteatoma, and tumorous swelling of the facial nerve. The middle ear ossicles were completely lost. The facial paralysis was improved after decompression surgery, but recurred 5 months later. A second operation was conducted 10 months after the first. During this operation, facial nerve decompression was completed from the geniculate ganglion to near the stylomastoid foramen. Histological diagnosis of the facial nerve tumor was IPT probably caused by chronic external ear inflammation induced by epidermal nevi. The facial paralysis gradually improved to House-Blackmann grade III 5 years after the second operation. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  9. Approach to a tremor patient

    Science.gov (United States)

    Sharma, Soumya; Pandey, Sanjay

    2016-01-01

    Tremors are commonly encountered in clinical practice and are the most common movement disorders seen. It is defined as a rhythmic, involuntary oscillatory movement of a body part around one or more joints. In the majority of the population, tremor tends to be mild. They have varying etiology; hence, classifying them appropriately helps in identifying the underlying cause. Clinically, tremor is classified as occurring at rest or action. They can also be classified based on their frequency, amplitude, and body part involved. Parkinsonian tremor is the most common cause of rest tremor. Essential tremor (ET) and enhanced physiological tremor are the most common causes of action tremor. Isolated head tremor is more likely to be dystonic rather than ET. Isolated voice tremor could be considered to be a spectrum of ET. Psychogenic tremor is not a diagnosis of exclusion; rather, demonstration of various clinical signs is needed to establish the diagnosis. Severity of tremor and response to treatment can be assessed using clinical rating scales as well as using electrophysiological measurements. The treatment of tremor is symptomatic. Medications are effective in half the cases of essential hand tremor and in refractory patients; deep brain stimulation is an alternative therapy. Midline tremors benefit from botulinum toxin injections. It is also the treatment of choice in dystonic tremor and primary writing tremor. PMID:27994349

  10. The long-term outcome of orthostatic tremor.

    Science.gov (United States)

    Ganos, Christos; Maugest, Lucie; Apartis, Emmanuelle; Gasca-Salas, Carmen; Cáceres-Redondo, María T; Erro, Roberto; Navalpotro-Gómez, Irene; Batla, Amit; Antelmi, Elena; Degos, Bertrand; Roze, Emmanuel; Welter, Marie-Laure; Mestre, Tiago; Palomar, Francisco J; Isayama, Reina; Chen, Robert; Cordivari, Carla; Mir, Pablo; Lang, Anthony E; Fox, Susan H; Bhatia, Kailash P; Vidailhet, Marie

    2016-02-01

    Orthostatic tremor is a rare condition characterised by high-frequency tremor that appears on standing. Although the essential clinical features of orthostatic tremor are well established, little is known about the natural progression of the disorder. We report the long-term outcome based on the largest multicentre cohort of patients with orthostatic tremor. Clinical information of 68 patients with clinical and electrophysiological diagnosis of orthostatic tremor and a minimum follow-up of 5 years is presented. There was a clear female preponderance (76.5%) with a mean age of onset at 54 years. Median follow-up was 6 years (range 5-25). On diagnosis, 86.8% of patients presented with isolated orthostatic tremor and 13.2% had additional neurological features. At follow-up, seven patients who initially had isolated orthostatic tremor later developed further neurological signs. A total 79.4% of patients reported worsening of orthostatic tremor symptoms. These patients had significantly longer symptom duration than those without reported worsening (median 15.5 vs 10.5 years, respectively; p=0.005). There was no change in orthostatic tremor frequency over time. Structural imaging was largely unremarkable and dopaminergic neuroimaging (DaTSCAN) was normal in 18/19 cases. Pharmacological treatments were disappointing. Two patients were treated surgically and showed improvement. Orthostatic tremor is a progressive disorder with increased disability although tremor frequency is unchanged over time. In most cases, orthostatic tremor represents an isolated syndrome. Drug treatments are unsatisfactory but surgery may hold promise. 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/

  11. Backprojection of volcanic tremor

    Science.gov (United States)

    Haney, Matthew M.

    2014-01-01

    Backprojection has become a powerful tool for imaging the rupture process of global earthquakes. We demonstrate the ability of backprojection to illuminate and track volcanic sources as well. We apply the method to the seismic network from Okmok Volcano, Alaska, at the time of an escalation in tremor during the 2008 eruption. Although we are able to focus the wavefield close to the location of the active cone, the network array response lacks sufficient resolution to reveal kilometer-scale changes in tremor location. By deconvolving the response in successive backprojection images, we enhance resolution and find that the tremor source moved toward an intracaldera lake prior to its escalation. The increased tremor therefore resulted from magma-water interaction, in agreement with the overall phreatomagmatic character of the eruption. Imaging of eruption tremor shows that time reversal methods, such as backprojection, can provide new insights into the temporal evolution of volcanic sources.

  12. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis

    Energy Technology Data Exchange (ETDEWEB)

    Terespolsky, D.; Siegel-Bartelt, J.; Weksberg, R. [Univ. of Toronto (Canada); Farrell, S.A. [Credit Valley Hospital, Mississauga (Canada)

    1995-11-20

    Simpson-Golabi Behmel syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al., a wide clinical range of cases has been reported. There is great variability in severity, ranging from a mild form associated with long-term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. In 8 reported families, affected individuals died in infancy. Here we present 4 maternally related, male cousins with a severe variant of SGBS. One of these males was aborted therapeutically at 19 weeks of gestation following the detection of multicystic kidneys on ultrasound. The 3 liveborn males were hydropic at birth with a combination of craniofacial anomalies including macrocephaly; apparently low-set, posteriorly angulated ears; hypertelorism; short, broad nose with anteverted nares; large mouth with thin upper vermilion border; prominent philtrum; high-arched or cleft palate; short neck; redundant skin; hypoplastic nails; skeletal defects involving upper and lower limbs; gastrointestinal and genitourinary anomalies. All 3 patients were hypotonic and neurologically impaired from birth. With the exception of a trilobate left lung in one patient, the cardiorespiratory system was structurally normal. All patients died within the first 8 weeks of life of multiple complications including pneumonia and sepsis. Two SGBS kindreds, with moderate expression of the condition, have been mapped to Xq27. It is not known whether severe, familiar cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(s). 21 refs., 4 figs., 1 tab.

  13. Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.

    Science.gov (United States)

    Robin, Gaëlle; López, José R; Espinal, Glenda M; Hulsizer, Susan; Hagerman, Paul J; Pessah, Isaac N

    2017-07-15

    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that affects premutation carriers with 55-200 CGG-expansion repeats (preCGG) in FMR1, presenting with early alterations in neuronal network formation and function that precede neurodegeneration. Whether intranuclear inclusions containing DNA damage response (DDR) proteins are causally linked to abnormal synaptic function, neuronal growth and survival are unknown. In a mouse that harbors a premutation CGG expansion (preCGG), cortical and hippocampal FMRP expression is moderately reduced from birth through adulthood, with greater FMRP reductions in the soma than in the neurite, despite several-fold elevation of Fmr1 mRNA levels. Resting cytoplasmic calcium concentration ([Ca2+]i) in cultured preCGG hippocampal neurons is chronically elevated, 3-fold compared to Wt; elevated ROS and abnormal glutamatergic responses are detected at 14 DIV. Elevated µ-calpain activity and a higher p25/p35 ratio in the cortex of preCGG young adult mice indicate abnormal Cdk5 regulation. In support, the Cdk5 substrate, ATM, is upregulated by 1.5- to 2-fold at P0 and 6 months in preCGG brain, as is p-Ser1981-ATM. Bax:Bcl-2 is 30% higher in preCGG brain, indicating a greater vulnerability to apoptotic activation. Elevated [Ca2+]i, ROS, and DDR signals are normalized with dantrolene. Chronic [Ca2+]i dysregulation amplifies Cdk5-ATM signaling, possibly linking impaired glutamatergic signaling and DDR to neurodegeneration in preCGG brain. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  14. El Síndrome de Burnout en Operadores y Equipos de Trabajo en Maltrato Infantil Grave Burnout Syndrome in Severe Child Abuse Workers and Work Teams

    Directory of Open Access Journals (Sweden)

    Carmen Gloria Quintana

    2005-05-01

    Full Text Available Este artículo presenta los resultados de una investigación acerca de la percepción del síndrome de burnout en equipos de trabajo en maltrato infantil grave y su relación con aspectos propios de la temática, con los factores personales, grupales, organizacionales y del contexto socio-legal, e identifica y describe los factores protectores. Se utilizó un diseño metodológico de carácter cualitativo. Se trabajó con 19 profesionales de distintos equipos y un grupo de ex trabajadores, todos ligados a los programas de reparación del maltrato infantil grave del SENAME. Los resultados apuntan a definir que la falta de políticas públicas consistentes en el área, es la fuente que, ligada a dinámicas propias de la temática, más fuertemente incide en la aparición del síndrome de burnout en estos equipos. No obstante, fenómenos asociados a aspectos organizacionales también predisponen al burnout.This article presents the results of a research on the perception of Burnout Syndrome in teams working with severe child abuse and its relationship with the theme's inner aspects, personal, group, organizational and socio-legal factors. Moreover, it identifies and describes protective factors. A methodological design of a qualitative nature was used. It involved 19 professionals of various teams and a group of former workers. All of them were involved with SENAME's severe child abuse reparation programs. The results point to the lack of consistent public policies in the area as the cause -tied to the dynamics inherent to this theme- that most strongly influences the onset of Burnout Syndrome in these teams. Nevertheless, phenomena associated to organizational matters also predispose to the syndrome.

  15. Streaking tremor in Cascadia

    Science.gov (United States)

    Vidale, J. E.; Ghosh, A.; Sweet, J. R.; Creager, K. C.; Wech, A.; Houston, H.

    2009-12-01

    Details of tremor deep in subduction zones is damnably difficult to glimpse because of the lack of crisp initial arrivals, low waveform coherence, uncertain focal mechanisms, and the probability of simultaneous activity across extended regions. Yet such details hold out the best hope to illuminate the unknown mechanisms underlying episodic tremor and slip. Attacking this problem with brute force, we pointed a small, very dense seismic array down at the migration path of a good-sized episodic tremor and slip (ETS) event. In detail, it was an 84-element, 1300-m-aperture temporary seismic array in northern Washington, and the migration path of the May 2008 ETS event was 30-40 km directly underneath. Our beamforming technique tracked the time, incident angle, and azimuth of tremor radiation in unprecedented detail. We located the tremor by assuming it occurs on the subduction interface, estimated relative tremor moment released by each detected tremor window, and mapped it on the interface [Ghosh et al., GRL, 2009]. Fortunately for our ability to image it, the tremor generally appears to emanate from small regions, and we were surprised by how steadily the regions migrated with time. For the first time in Cascadia, we found convergence-parallel transient streaks of tremor migrating at velocities of several tens of km/hr, with movement in both up- and down-dip directions. Similar patterns have been seen in Japan [Shelly, G3, 2007]. This is in contrast to the long-term along-strike marching of tremor at 10 km/day. These streaks tend to propagate steadily and often repeat the same track on the interface multiple times. They light up persistent moment patches on the interface by a combination of increased amplitude and longer residence time within the patches. The up- and down-dip migration dominates the 2 days of tremor most clearly imaged by our array. The tendency of the streaks to fill in bands is the subject of the presentation of Ghosh et al. here. The physical

  16. Infantile sexuality

    DEFF Research Database (Denmark)

    Zeuthen, Katrine Egede; Gammelgård, Judy

    2010-01-01

    When first presented, Freud´s theory of infantile sexuality was a scandal. Not only was the claim that the small child sucking at the mother´s breast experiences a kind of pleasure that Freud without hesitation named sexual, the theory also turned the common understanding of human sexuality up-si...

  17. Tremor - self-care

    Science.gov (United States)

    ... in your day-to-day: Buy clothes with Velcro fasteners instead of buttons or hooks. Cook or ... your tremor. Some of these medicines have side effects. Tell your provider if you have these symptoms ...

  18. How to treat tremor.

    Science.gov (United States)

    Rektor, Ivan; Rektorová, Irena; Suchý, Václav

    2004-05-01

    This paper presents an example of 18(th) century medical thinking. The author, Dr Georg Ernst Stahl (1659-1734) was the founder of the phlogiston theory in the field of chemistry, a medical professor, and a court physician in Saxony and Prussia. His description includes a definition of tremor, the internal and external causes of tremor, the types of tremor, the diagnostic and prognostic signs, and the treatment. From a present (contemporary) point of view, some compounds that were then used in treatment may have had a limited therapeutic effect on some kinds of tremor. Protopin has an anticholinergic and GABA-ergic effect, and rhoeadin (tetrahydrobenzazepin) may have had an effect similar to that of neuroleptics. Nevertheless, it is not clear whether the recommended quantity of these compounds was sufficient for a clinical effect. Most of the prescribed drugs could only have had a placebo effect.

  19. Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy.

    Science.gov (United States)

    Alreheili, Khalid; AlMehaidib, Ali; Alsaleem, Khalid; Banemi, Mohammad; Aldekhail, Wajeeh; Al-Mayouf, Sulaiman M

    2012-01-01

    Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and peri-anal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH.

  20. INFANTILE HAEMANGIOMA

    Directory of Open Access Journals (Sweden)

    Maria Armanda Passas

    2016-06-01

    Full Text Available Infantile hemangiomas are the most common softtissue tumors of infancy, occurring in approximately 3 to 10 percent of one-year-old children, with predominance in females. Despite the frequency of these tumors, their pathogenesis is not completely understood, and the best approach to their management remains controversial. They have a well-described natural history of rapid growth during early infancy followed by gradual involution, often leading to complete regression. Because of their spontaneous involution, most infantile hemangiomas do not require therapeutic intervention. However, in 10 to 15 % of cases, treatment is necessary because of local complications, life or physiological functioning is threatened or the long-term esthetic risk is too high.

  1. Evolving Concepts in Posterior Subthalamic Area Deep Brain Stimulation for Treatment of Tremor: Surgical Neuroanatomy and Practical Considerations.

    Science.gov (United States)

    Ramirez-Zamora, Adolfo; Smith, Heather; Kumar, Vignessh; Prusik, Julia; Phookan, Sujoy; Pilitsis, Julie G

    2016-01-01

    Although thalamic deep brain stimulation (DBS) has been established as an effective therapy for refractory tremor in Parkinson's disease and essential tremor, reports investigating the efficacy of posterior subthalamic area (PSA) DBS for severe, debilitating tremors continue to emerge. However, questions regarding the optimal anatomical target, surgical approach, programming paradigms and effectiveness compared to other targets remain. In this report, we aimed to review the current literature to assess different stereotactic techniques, anatomical considerations, adverse effects and stimulation settings in PSA DBS. A comprehensive literature review was performed searching for articles discussing tremors and PSA stimulation. We performed a quantitative analysis comparing different DBS tremor targets. Tremor improvement is consistently documented in most reports with an average reduction in tremor of 79% depending on the specific tremor syndrome. Tremor benefit in patients with multiple sclerosis (MS) tremor was significantly higher than for other stimulation targets. Transient paresthesias, imbalance, dizziness and dysarthria are the most common side effects with PSA DBS. PSA DBS is an effective and safe treatment for tremor control and should be considered in patients with refractory tremors with associated cerebellar or dystonic features, proximal tremors and MS tremor. © 2016 S. Karger AG, Basel.

  2. GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

    Science.gov (United States)

    Graham, John M

    2012-05-01

    Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  3. Coherence analysis differentiates between cortical myoclonic tremor and essential tremor

    NARCIS (Netherlands)

    van Rootselaar, AF; Maurits, NM; Koelman, JHTM; van der Hoeven, JH; Bour, LJ; Leenders, KL; Brown, P; Tijssen, MAJ

    Familial cortical myoclonic tremor with epilepsy (FCMTE) is characterized by a distal kinetic tremor, infrequent epileptic attacks, and autosomal dominant inheritance. The tremor is thought to originate from the motor cortex. In our patient group, a premovement cortical spike Could not be

  4. Holmes' tremor as a delayed complication of thalamic stroke.

    Science.gov (United States)

    Martins, William Alves; Marrone, Luiz Carlos Porcello; Fussiger, Helena; Vedana, Viviane Maria; Cristovam, Rafael do Amaral; Taietti, Marjorye Z; Marrone, Antonio Carlos Huf

    2016-04-01

    Movement disorders are not commonly associated with stroke. Accordingly, thalamic strokes have rarely been associated with tremor, pseudo-athetosis and dystonic postures. We present a 75-year-old man who developed a disabling tremor 1 year after a posterolateral thalamic stroke. This tremor had low frequency (3-4 Hz), did not disappear on focus and was exacerbated by maintaining a static posture and on target pursuit, which made it very difficult to perform basic functions. MRI demonstrated an old ischemic lesion at the left posterolateral thalamus. Treatment with levodopa led to symptom control. Lesions in the midbrain, cerebellum and thalamus may cause Holmes' tremor. Delayed onset of symptoms is usually seen, sometimes appearing 2 years after the original injury. This may be due to maturation of a complex neuronal network, leading to slow dopaminergic denervation. Further studies are needed to improve our understanding of this unique disconnection syndrome. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Tremor entities and their classification: an update.

    Science.gov (United States)

    Gövert, Felix; Deuschl, Günther

    2015-08-01

    This review focuses on important new findings in the field of tremor and illustrates the consequences for the current definition and classification of tremor. Since 1998 when the consensus criteria for tremor were proposed, new variants of tremors and new diagnostic methods were discovered that have changed particularly the concepts of essential tremor and dystonic tremor. Accumulating evidence exists that essential tremor is not a single entity rather different conditions that share the common symptom action tremor without other major abnormalities. Tremor is a common feature in patients with adult-onset focal dystonia and may involve several different body parts and forms of tremor. Recent advances, in particular, in the field of genetics, suggest that dystonic tremor may even be present without overt dystonia. Monosymptomatic asymmetric rest and postural tremor has been further delineated, and apart from tremor-dominant Parkinson's disease, there are several rare conditions including rest and action tremor with normal dopamine transporter imaging (scans without evidence of dopaminergic deficit) and essential tremor with tremor at rest. Increasing knowledge in the last decades changed the view on tremors and highlights several caveats in the current tremor classification. Given the ambiguous assignment between tremor phenomenology and tremor etiology, a more cautious definition of tremors on the basis of clinical assessment data is needed.

  6. How typical are 'typical' tremor characteristics? : Sensitivity and specificity of five tremor phenomena

    NARCIS (Netherlands)

    van der Stouwe, A. M. M.; Elting, J. W.; van der Hoeven, J. H.; van Laar, T.; Leenders, K. L.; Maurits, N. M.; Tijssen, M. Aj.

    Introduction: Distinguishing between different tremor disorders can be challenging. Some tremor disorders are thought to have typical tremor characteristics: the current study aims to provide sensitivity and specificity for five 'typical' tremor phenomena. Methods: Retrospectively, we examined 210

  7. Infantile colic

    Directory of Open Access Journals (Sweden)

    Aleksandra Rurarz

    2016-12-01

    Full Text Available Infantile colic is one of the most common functional gastrointestinal disorders in infants, usually occurring between 2 weeks to 4 months of age. According to the definition, infantile colic is characterised by episodes of inconsolable crying, generally observed in the evening. Although these symptoms usually resolve spontaneously in the first six months of life, they often cause parental anxiety, leading to repeated medical appointments in search for help. Despite 40 years of research, the causes of this disorder are still unclear; hypersensitivity to cow’s milk protein, lactose intolerance, impaired gut microbiota, immaturity of the nervous system, the negative impact of tobacco smoke, inappropriate childcare techniques and psychosocial factors are believed to be involved in the pathogenesis. The treatment involves behavioural methods, i.e. reducing infant exposure to external stimuli. Breastfeeding mothers are advised to eliminate caffeine and hot spices from their diet and, in some cases, switch to a dairy-free diet. For formula-fed infants, it is recommended to use hydrolysates with a high degree of hydrolysis. Simethicone is commonly used in the pharmacological treatment as it reduces the surface tension of intestinal gases, enabling their easier elimination. The Rome III Diagnostic Criteria recommend to appropriately continue any method if considered effective by the parents, provided that there are no harmful consequences.

  8. The many roads to tremor.

    Science.gov (United States)

    Brittain, John-Stuart; Brown, Peter

    2013-12-01

    Tremor represents one of the most prominent examples of aberrant synchronisation within the human motor system, and Essential Tremor (ET) is by far the most common tremor disorder. Yet, even within ET there is considerable variation, and patients may have contrasting amounts of postural and intention tremor. Recently, Pedrosa et al. (2013) challenged tremor circuits in a cohort of patients presenting with ET, by applying low-frequency deep brain stimulation within thalamus. This interventional approach provided strong evidence that distinct (yet possibly overlapping) neural substrates are responsible for postural and intention tremor in ET. Intention tremor, and not postural tremor, was exacerbated by low frequency stimulation, and the effect was localised in the region of the ventrolateral thalamus in such a way as to implicate cerebello-thalamic pathways. These results, taken in conjunction with the contemporary literature, reveal that pathological changes exaggerate oscillatory synchrony in selective components of an extensive and distributed motor network, and that synchronisation within these networks is further regulated according to motor state. Through a combination of pathological and more dynamic physiological factors, activity then spills out into the periphery in the form of tremor. The findings of Pedrosa et al. (2013) are timely as they coincide with an emerging notion that tremor may result through selective dysregulation within a broader tremorgenic network. © 2013.

  9. Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

    Directory of Open Access Journals (Sweden)

    Anna Ka-Yee Kwong

    Full Text Available Epileptic Encephalopathy (EE is a heterogeneous condition in which cognitive, sensory and/or motor functions deteriorate as a consequence of epileptic activity, which consists of frequent seizures and/or major interictal paroxysmal activity. There are various causes of EE and they may occur at any age in early childhood. Genetic mutations have been identified to contribute to an increasing number of children with early onset EE which had been previously considered as cryptogenic. We identified 26 patients with Infantile Epileptic Encephalopathy (IEE of unknown etiology despite extensive workup and without any specific epilepsy syndromic phenotypes. We performed genetic analysis on a panel of 7 genes (ARX, CDKL5, KCNQ2, PCDH19, SCN1A, SCN2A, STXBP1 and identified 10 point mutations [ARX (1, CDKL5 (3, KCNQ2 (2, PCDH19 (1, SCN1A (1, STXBP1 (2] as well as one microdeletion involving both SCN1A and SCN2A. The high rate (42% of mutations suggested that genetic testing of this IEE panel of genes is recommended for cryptogenic IEE with no etiology identified. These 7 genes are associated with channelopathies or synaptic transmission and we recommend early genetic testing if possible to guide the treatment strategy.

  10. Effect of Gabapentin/Memantine on the Infantile Nystagmus Syndrome in the Zebrafish Model: Implications for the Therapy of Ocular Motor Diseases.

    Science.gov (United States)

    Bögli, Stefan Yu; Afthinos, Maresa; Huang, Melody Ying-Yu

    2017-06-01

    Infantile nystagmus syndrome (INS) is a disorder characterized by typical horizontal eye oscillations. Due to the uncertain etiology of INS, developing specific treatments remains difficult. Single reports demonstrated, on limited measures, alleviating effects of gabapentin and memantine. In the current study, we employed the zebrafish INS model belladonna (bel) to conduct an in-depth study of how gabapentin and memantine interventions alleviate INS signs, which may further restore visual conditions in affected subjects. Moreover, we described the influence of both medications on ocular motor functions in healthy zebrafish, evaluating possible iatrogenic effects. Ocular motor function and INS characteristics were assessed by eliciting optokinetic response, spontaneous nystagmus, and spontaneous saccades in light and in dark, in 5- to 6-day postfertilization bel larvae and heterozygous siblings. Single larvae were recorded before and after a 1-hour drug treatment (200 mM gabapentin/0.2 mM memantine). Both interventions significantly reduced nystagmus intensity (gabapentin: 59.98%, memantine: 39.59%). However, while the application of gabapentin affected all tested ocular motor functions, memantine specifically reduced nystagmus amplitude and intensity, and thus left controls completely unaffected. Finally, both drug treatments resulted in specific changes in nystagmus waveform and velocity. Our study provides deeper insight into gabapentin and memantine treatment effect in the zebrafish INS model. Moreover, this study should establish zebrafish as a pharmacologic animal model for treating nystagmus and ocular motor disease, serving as a basis for future large-scale drug screenings.

  11. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

    Science.gov (United States)

    Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

    2017-02-02

    Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10 -14 ). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1. Copyright © 2017 American Society of Human Genetics. All rights reserved.

  12. Dystonia Associated with Idiopathic Slow Orthostatic Tremor

    Directory of Open Access Journals (Sweden)

    Christopher Kobylecki

    2016-02-01

    Full Text Available Background: We aimed to characterize the clinical and electrophysiological features of patients with slow orthostatic tremor.Case Report: The clinical and neurophysiological data of patients referred for lower limb tremor on standing were reviewed. Patients with symptomatic or primary orthostatic tremor were excluded. Eight patients were identified with idiopathic slow 4–8 Hz orthostatic tremor, which was associated with tremor and dystonia in cervical and upper limb musculature. Coherence analysis in two patients showed findings different to those seen in primary orthostatic tremor.Discussion: Slow orthostatic tremor may be associated with dystonia and dystonic tremor.

  13. Thalamic physiology of intentional essential tremor is more like cerebellar tremor than postural essential tremor

    OpenAIRE

    Zakaria, R; Lenz, FA; Hua, S; Avin, BH; Liu, CC; Mari, Z

    2013-01-01

    The neuronal physiological correlates of clinical heterogeneity in human essential tremor are unknown. We now test the hypothesis that thalamic neuronal and EMG activities during intention essential tremor are similar to those of the intention tremor which is characteristic of cerebellar lesions. Thalamic neuronal firing was studied in a cerebellar relay nucleus (ventral intermediate, Vim) and in a pallidal relay nucleus (ventral oral posterior, Vop) during stereotactic surgery for the treatm...

  14. Tracing tremor: Neural correlates of essential tremor and its treatment

    NARCIS (Netherlands)

    Buijink, A.W.G.

    2016-01-01

    This thesis focusses on the neural correlates and treatment of the neurological movement disorder essential tremor (ET). ET, one of the most common movement disorders in clinical neurology, is characterized by an action and intention tremor of mainly the hands, hampering daily life activities.

  15. Role of ARX Gene in Infantile Spasms and Dystonia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-08-01

    Full Text Available The role of ARX gene in a syndrome of infantile spasms with generalized dystonia was investigated in 6 boys from 4 families at the University of Florence, Italy, and other centers in Italy, Japan, and USA.

  16. Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME: Probable first family from India

    Directory of Open Access Journals (Sweden)

    Chandra Mohan Sharma

    2014-01-01

    Full Text Available Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME is an extremely rare syndrome characterized by familial occurrence of postural and action-induced tremors of the hands but showing electrophysiologic findings of cortical reflex myoclonus. Patients also have cognitive decline and tonic-clonic seizures, often precipitated by sleep deprivation or photic stimulation. We describe probably the first family from India of this ill-defined syndrome.

  17. When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

    NARCIS (Netherlands)

    Ferri, L.; Dionisi-Vici, C.; Taurisano, R.; Vaz, F. M.; Guerrini, R.; Morrone, A.

    2016-01-01

    Barth syndrome (BTHS) is an X-linked inborn error of metabolism which affects males. The main manifestations are cardiomyopathy, myopathy, hypotonia, growth delay, intermittent neutropenia and 3-methylglutaconic aciduria. Diagnosis is confirmed by mutational analysis of the TAZ gene and biochemical

  18. Tremor in the Elderly: Essential and Aging-Related Tremor

    Science.gov (United States)

    Deuschl, Günthe; Petersen, Inge; Lorenz, Delia; Christensen, Kaare

    2016-01-01

    Isolated tremor in the elderly is commonly diagnosed as essential tremor (ET). The prevalence of tremor increases steeply with increasing age, whereas hereditary tremor is becoming less common. Moreover, late-manifesting tremor seems to be associated with dementia and earlier mortality. We hypothesize that different entities underlie tremor in the elderly. Two thousand four hundred forty-eight subjects from the Longitudinal Study of Aging Danish Twins older than 70 y answered screening questions for ET in 2001. Two thousan fifty-six (84%) participants drew Archimedes spirals to measure their tremor severity, and classical aging phenotypes were assessed. A subgroup of 276 individuals fulfilling either screening criteria for ET or being controls were personally assessed. Medications and mortality data are available. The spiral score increased with age. The spiral score correlated with tremor severity. For the whole cohort, mortality was significantly correlated with the spiral score, and higher spiral scores were associated with lower physical and cognitive functioning. Multivariate analysis identified higher spiral scores as an independent risk factor for mortality. In contrast, the ET patients did not show an increased but rather a lower mortality rate although it was not statistically significant. Consistent with a slower than normal aging, they were also physically and cognitively better functioning than controls. Because incident tremors beyond 70 y of age show worse aging parameters and mortality than controls and ET, we propose to label it ‘aging-related tremor’ (ART). This tremor starts later in life and is accompanied by subtle signs of aging both cognitively and physically. More detailed clinical features and pathogenesis warrant further assessment. PMID:26095699

  19. Consequences of low birth weight, maternal illiteracy and poor access to medical care in rural India: infantile iatrogenic Cushing syndrome

    OpenAIRE

    Karande, Sunil

    2015-01-01

    Home delivery, low birth weight babies and maternal illiteracy among the poor in rural India are frequent. The rural poor prefer to seek healthcare from private providers, most of whom have no formal medical training and buy medicines from private pharmacies without a prescription owing to a weakly regulated environment. This report is of a 4-month-old baby from a remote village in northern India, who presented with exogenous Cushing syndrome. This baby was a full-term low birth weight home d...

  20. Is tremor related to celiac disease?

    Science.gov (United States)

    Ameghino, Lucia; Rossi, Malco Damian; Cerquetti, Daniel; Merello, Marcelo

    2017-06-14

    Neurological features in celiac disease (CD) are not rare (5%-36%), but tremor is scarcely described. Subjects with CD and healthy controls completed an online survey using WHIGET tremor rating scale. One thousand five hundred and twelve subjects completed the survey, finally 674 CD patients and 290 healthy subjects were included. A higher prevalence of tremor in CD patients was observed in comparison to controls (28% vs 14%, P tremor in CD patients with and without tremor was 25% and 20% ( P = 0.2), while in the control group it was 41% and 10% ( P tremor showed a higher frequency of family history of tremor when compared to CD patients with tremor (41.5% vs 24.6%, P = 0.03). The results suggested that tremor in CD might be more frequent and possibly related to the disease itself and not due to associated essential tremor.

  1. Treatment of essential tremor with arotinolol.

    Science.gov (United States)

    Kuroda, Y; Kakigi, R; Shibasaki, H

    1988-04-01

    We investigated the effect of arotinolol, a new peripherally acting beta-adrenergic blocker, in 15 patients with essential tremor. The patients received 30 mg per day of arotinolol for 8 weeks. Accelerometer readings showed a significant reduction in amplitude of postural tremor after treatment. Action tremor also improved to essentially the same degree as postural tremor. The present findings support the view that the therapeutic effect of beta-blockers in essential tremor is mediated by peripheral beta-adrenergic receptors.

  2. Consequences of low birth weight, maternal illiteracy and poor access to medical care in rural India: infantile iatrogenic Cushing syndrome.

    Science.gov (United States)

    Karande, Sunil

    2015-08-21

    Home delivery, low birth weight babies and maternal illiteracy among the poor in rural India are frequent. The rural poor prefer to seek healthcare from private providers, most of whom have no formal medical training and buy medicines from private pharmacies without a prescription owing to a weakly regulated environment. This report is of a 4-month-old baby from a remote village in northern India, who presented with exogenous Cushing syndrome. This baby was a full-term low birth weight home delivery. As the baby was not growing well, treatment was started at 1 month by a private doctor with betamethasone drops The mother on her own volition continued giving the betamethasone drops by buying the medicine over the counter from a private pharmacy. This case highlights the gaps in essential health services in rural India and the steps being taken to improve the situation. 2015 BMJ Publishing Group Ltd.

  3. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

    Directory of Open Access Journals (Sweden)

    Christel Depienne

    2009-02-01

    Full Text Available Dravet syndrome (DS is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for mutations or rearrangements in SCN1A. In order to identify new genes responsible for the disorder in the SCN1A-negative patients, 41 probands were screened for micro-rearrangements with Illumina high-density SNP microarrays. A hemizygous deletion on chromosome Xq22.1, encompassing the PCDH19 gene, was found in one male patient. To confirm that PCDH19 is responsible for a Dravet-like syndrome, we sequenced its coding region in 73 additional SCN1A-negative patients. Nine different point mutations (four missense and five truncating mutations were identified in 11 unrelated female patients. In addition, we demonstrated that the fibroblasts of our male patient were mosaic for the PCDH19 deletion. Patients with PCDH19 and SCN1A mutations had very similar clinical features including the association of early febrile and afebrile seizures, seizures occurring in clusters, developmental and language delays, behavioural disturbances, and cognitive regression. There were, however, slight but constant differences in the evolution of the patients, including fewer polymorphic seizures (in particular rare myoclonic jerks and atypical absences in those with PCDH19 mutations. These results suggest that PCDH19 plays a major role in epileptic encephalopathies, with a clinical spectrum overlapping that of DS. This disorder mainly affects females. The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism.

  4. Intermittent cortical involvement in the preservation of tremor in essential tremor

    NARCIS (Netherlands)

    Sharifi, Sarvi; Luft, Frauke; Verhagen, Rens; Heida, Tjitske; Speelman, Johannes D.; Bour, Lo J.; van Rootselaar, Anne-Fleur

    2017-01-01

    Cortical involvement in essential tremor, an involuntary action tremor supposedly of subcortical origin, is uncertain. Conflicting results of corticomuscular coherence studies in essential tremor suggest an intermittent corticomuscular coupling. On the basis of the literature, we hypothesized that

  5. Re-Emergent Tremor of Parkinson's Disease Masquerading as Essential Tremor

    Directory of Open Access Journals (Sweden)

    Sarah Morgan

    2016-03-01

    Full Text Available Background: The re-emergent tremor of Parkinson’s disease (PD is generally recognized as a postural tremor. Phenomenology Shown: A PD patient with a re-emergent tremor occurring during a task (spiral drawing, which on the surface produced a tremor that resembled that of essential tremor (ET. Educational Value: Researchers and clinicians should be aware of features of this re-emergent tremor to help distinguish it from that of ET.

  6. Diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT: A clinical follow up study

    Directory of Open Access Journals (Sweden)

    Manuel eMenéndez-González

    2014-04-01

    Full Text Available The [123I]ioflupane - a dopamine transporter radioligand - SPECT (DaT-SPECT has proven to be useful in the differential diagnosis of tremor. Here, we investigate the diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT. Therefore, 30 patients with tremor and normal DaT-SPECT were followed up for 2 years. In 18 cases we were able to make a diagnosis. The residual 12 patients underwent a second DaT-SPECT, were then followed for additional 12 months and thereafter the diagnosis was reconsidered again. The final diagnoses included cases of essential tremor, dystonic tremor, multisystem atrophy, vascular parkinsonism, progressive supranuclear palsy, corticobasal degeneration, fragile X–associated tremor ataxia syndrome, psychogenic parkinsonism, iatrogenic parkinsonism and Parkinson’s disease. However, for 6 patients the diagnosis remained uncertain. Larger series are needed to better establish the relative frequency of the different conditions behind these cases.

  7. Diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT: a clinical follow up study.

    Science.gov (United States)

    Menéndez-González, Manuel; Tavares, Francisco; Zeidan, Nahla; Salas-Pacheco, José M; Arias-Carrión, Oscar

    2014-01-01

    The [(123)I]ioflupane-a dopamine transporter radioligand-SPECT (DaT-SPECT) has proven to be useful in the differential diagnosis of tremor. Here, we investigate the diagnoses behind patients with hard-to-classify tremor and normal DaT-SPECT. Therefore, 30 patients with tremor and normal DaT-SPECT were followed up for 2 years. In 18 cases we were able to make a diagnosis. The residual 12 patients underwent a second DaT-SPECT, were then followed for additional 12 months and thereafter the diagnosis was reconsidered again. The final diagnoses included cases of essential tremor, dystonic tremor, multisystem atrophy, vascular parkinsonism, progressive supranuclear palsy, corticobasal degeneration, fragile X-associated tremor ataxia syndrome, psychogenic parkinsonism, iatrogenic parkinsonism and Parkinson's disease. However, for 6 patients the diagnosis remained uncertain. Larger series are needed to better establish the relative frequency of the different conditions behind these cases.

  8. When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.

    Science.gov (United States)

    Ferri, L; Dionisi-Vici, C; Taurisano, R; Vaz, F M; Guerrini, R; Morrone, A

    2016-11-01

    Barth syndrome (BTHS) is an X-linked inborn error of metabolism which affects males. The main manifestations are cardiomyopathy, myopathy, hypotonia, growth delay, intermittent neutropenia and 3-methylglutaconic aciduria. Diagnosis is confirmed by mutational analysis of the TAZ gene and biochemical dosage of the monolysocardiolipin/tetralinoleoyl cardiolipin (MLCL:L4-CL) ratio. We report a 6-year-old boy who presented with severe hypoglycemia, lactic acidosis and severe dilated cardiomyopathy soon after birth. The MLCL:L4-CL ratio confirmed BTHS (3.90 on patient's fibroblast, normal: 0-0.3). Subsequent sequencing of the TAZ gene revealed only the new synonymous variant NM_000116.3 (TAZ):c.348C>T p.(Gly116Gly), which did not appear to affect the protein sequence. In silico prediction analysis suggested the new c.348C>T nucleotide change could alter the TAZ mRNA splicing processing. We analyzed TAZ mRNAs in the patient's fibroblasts and found an abnormal skipping of 24 bases (NM_000116.3:c.346_371), with the consequent ablation of 8 amino acid residues in the tafazzin protein (NP_000107.1:p.Lys117_Gly124del). Molecular analysis of at risk female family members identified the patient's sister and mother as heterozygous carriers. Apparently harmless synonymous variants in the TAZ gene can damage gene expression. Such findings widen our knowledge of molecular heterogeneity in BTHS. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Slip rate and tremor genesis in Cascadia

    Science.gov (United States)

    Wech, Aaron G.; Bartlow, Noel M.

    2014-01-01

    At many plate boundaries, conditions in the transition zone between seismogenic and stable slip produce slow earthquakes. In the Cascadia subduction zone, these events are consistently observed as slow, aseismic slip on the plate interface accompanied by persistent tectonic tremor. However, not all slow slip at other plate boundaries coincides spatially and temporally with tremor, leaving the physics of tremor genesis poorly understood. Here we analyze seismic, geodetic, and strainmeter data in Cascadia to observe for the first time a large, tremor-generating slow earthquake change from tremor-genic to silent and back again. The tremor falls silent at reduced slip speeds when the migrating slip front pauses as it loads the stronger adjacent fault segment to failure. The finding suggests that rheology and slip-speed-regulated stressing rate control tremor genesis, and the same section of fault can slip both with and without detectable tremor, limiting tremor's use as a proxy for slip.

  10. Recurrent infantile digital fibromatosis

    African Journals Online (AJOL)

    We present a case of an 8-year-old-boy with recurrent infantile digital fibromatosis (IDF) who presented with new ... Keywords: fibrous tumors, inclusion body fibromatosis, infantile digital fibromatosis, spindle cells, Reye tumor .... watch-and-wait strategy for patients with histologically confirmed IDF nodules that do not cause ...

  11. Characterizing Orthostatic Tremor Using a Smartphone Application.

    Science.gov (United States)

    Balachandar, Arjun; Fasano, Alfonso

    2017-01-01

    Orthostatic tremor is one of the few tremor conditions requiring an electromyogram for definitive diagnosis since leg tremor might not be visible to the naked eye. An iOS application (iSeismometer, ObjectGraph LLC, New York) using an Apple iPhone 5 (Cupertino, CA, USA) inserted into the patient's sock detected a tremor with a frequency of 16.4 Hz on both legs. The rapid and straightforward accelerometer-based recordings accomplished in this patient demonstrate the ease with which quantitative analysis of orthostatic tremor can be conducted and, importantly, demonstrates the potential application of this approach in the assessment of any lower limb tremor.

  12. A Cerebellar Tremor in a Patient with Human Immunodeficiency Virus-1 Associated with Progressive Multifocal Leukoencephalopathy

    Directory of Open Access Journals (Sweden)

    Hee-Jin Kim

    2009-10-01

    Full Text Available Progressive multifocal leukoencephalopathy (PML is a demyelinating disease of the central nervous system (CNS caused by JC virus infection in oligodendrocytes, especially in patients with acquired immunodeficiency syndrome (AIDS. Movement disorders associated with PML are very rare. Here, we report a case of PML in an AIDS patient who presented with a cerebellar tremor, caused by lesions in the cerebellar outflow tract. A cerebellar tremor can be a rare clinical manifestation in patients with PML.

  13. A Cerebellar Tremor in a Patient with Human Immunodeficiency Virus-1 Associated with Progressive Multifocal Leukoencephalopathy

    Science.gov (United States)

    Kim, Hee-Jin; Lee, Jae-Jung; Lee, Phil Hyu

    2009-01-01

    Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system (CNS) caused by JC virus infection in oligodendrocytes, especially in patients with acquired immunodeficiency syndrome (AIDS). Movement disorders associated with PML are very rare. Here, we report a case of PML in an AIDS patient who presented with a cerebellar tremor, caused by lesions in the cerebellar outflow tract. A cerebellar tremor can be a rare clinical manifestation in patients with PML. PMID:24868366

  14. Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.

    Science.gov (United States)

    Kondo, Daiki; Noguchi, Atsuko; Tamura, Hiroaki; Tsuchida, Satoko; Takahashi, Ikuko; Kubota, Hiroki; Yano, Tamami; Oyama, Chikako; Sawaishi, Yukio; Moriwaki, Shinichi; Takahashi, Tsutomu

    2016-07-01

    Nucleotide excision repair (NER) is an essential biological pathway protecting against ultraviolet light-induced DNA damage. Deficient NER causes a group of rare genetic disorders including two autosomal recessive diseases, xeroderma pigmentosum (XP) and Cockayne syndrome (CS). In addition to the cutaneous photosensitivity shared in XP and CS, CS is featured by growth failure, neurological deterioration, microcephaly, and deep sunken eyes. XP/CS complex is an extremely rare type of NER disorder with a distinct phenotype that is characterized by the skin and eye pathology of XP and the somatic and neurological abnormalities of CS. Some of CS cases have been reported to be complicated with renal failure, but the genetic background or the etiology of the renal failure has not been reported. We herein report a 1-year-old Japanese boy with XP/CS complex, complicated by nephrotic syndrome. Diagnosis was confirmed by the presence of compound heterozygous mutations, G47R (c.139G>A) and R616G (c.1846C>G), in the excision repair cross-complementation group 2 (ERCC2) gene. The kidney biopsies, performed at the age of 1 year and 2 months, revealed diffuse expansion of the mesangial matrix and segmental glomerulosclerosis under light microscopy, and diffused thin capillary walls with partially lamellated regions under electron microscopy. Notably, high levels of urinary 8-hydroxy-2'-deoxyguanosin, known as an oxidative stress marker, were observed during the clinical course. The patient died at the age of 1 year and 11 months because of renal failure. We suggest the involvement of oxidative stress in the pathogenesis of nephrotic syndrome in NER disorders.

  15. Literatura infantil sobre problemas infantiles: la diabetes

    OpenAIRE

    Lázaro Fernández, Patricia

    2015-01-01

    Debido al creciente número de casos de diabetes infantil que se está dando en la sociedad actual, no es raro encontrarse en las aulas cada vez más casos de esta enfermedad. Por esta razón, he decidido analizar dos libros sobre esta temática, para hacer un acercamiento del material seleccionado a las aulas y poder desarrollar junto con los niños un aprendizaje colectivo y cooperativo. En este trabajo se expone la importancia de la literatura y la literatura infantil como una ...

  16. Non-contact measurement of tremor for the characterisation of Parkinsonian individuals: comparison between Kinect and Laser Doppler vibrometer

    Science.gov (United States)

    Casacanditella, L.; Cosoli, G.; Ceravolo, MG; Tomasini, EP

    2017-08-01

    Parkinson’s disease is a progressive neurodegenerative disorder affecting the central nervous system. One of its main and most evident symptoms is the tremor, which usually manifests at rest with varying intensity during time. An important diagnostic challenge is the differential diagnosis between Parkinson’s disease and the other most widely represented tremor syndrome, i.e. Essential (or senile) tremor. At present there are no standard methods for the quantification of tremor and the diagnosis of both Parkinson’s disease and Essential tremor is mainly done on the base of clinical criteria and by using rating scales. The aim of this work is to objectively and non-invasively assess the tremor linked to the quoted diseases, using non-contact techniques: Laser Doppler Vibrometer (LDV) and Kinect for Windows device. Two subjects with Parkinson’s disease and one with Essential tremor were tested in different conditions: at rest, during a cognitive task, with forward stretched arms and in “Wing position”. The results from data processing in terms of tremor frequency seem to be comparable, with a mean deviation of 0.31 Hz. Furthermore, the values computed are consistent with what is stated in the literature (i.e. 4-12 Hz). So, both LDV and Kinect device can be considered suitable to be used as an objective means for the assessment and monitoring of Parkinson’s disease tremor, helping the clinician in the choice of the most suitable treatment for the patients.

  17. The Clinical Evaluation of Parkinson's Tremor

    NARCIS (Netherlands)

    Zach, H.; Dirkx, M.; Bloem, B.R.; Helmich, R.C.

    2015-01-01

    Parkinson's disease harbours many different tremors that differ in distribution, frequency, and context in which they occur. A good clinical tremor assessment is important for weighing up possible differential diagnoses of Parkinson's disease, but also to measure the severity of the tremor as a

  18. Polypyrrole Actuators for Tremor Suppression

    DEFF Research Database (Denmark)

    Skaarup, Steen; Mogensen, Naja; Bay, Lasse

    2003-01-01

    Neurological tremor affecting limbs can be divided into at least 6 different types with frequencies ranging from 2 to about 20 Hz. In order to alleviate the symptoms by suppressing the tremor, sensing and actuation systems able to perform at these frequencies are needed. Electroactive polymers...... exemplify 'soft actuator' technology that may be especially suitable for use in conjunction with human limbs. The electrochemical and mechanical properties of polypyrrole dodecyl benzene sulphonate actuator films have been studied with this application in mind. The results show that the time constants...

  19. Estrategia educativa para el control y prevención del maltrato infantil dirigida a padres de niños con síndrome de Down Educational strategy for control and prevention of infantile maltreatment aimed to parents of children presenting with Dow's syndrome

    Directory of Open Access Journals (Sweden)

    Eloy Pineda Pérez

    2011-03-01

    the "Zunzún" nursery school there are children with Dow's syndrome and some of them have suffered some way of maltreatment caused by a family's member, thus, we made present research to know some characteristics of the child family environment, information on different ways of maltreatment known by family and to try to eliminate it after application of the designed educational strategy. METHOD. An educational intervention with a before-after design applied in 28 parents (24 mothers and 4 fathers; a progenitor by child of children with Down's syndrome going to this institution. It had three phases and the application of three workshops. RESULTS. Most of parents recognized to have some information on this subject. Some associated risk factors were detected. Before workshops the maltreatment ways generally know by parents were the physical and sexual maltreatment; the actions inciting to infantile maltreatment included the failure to fulfill orders and other related to sexuality. After workshops the parent's knowledge improved significantly. CONCLUSIONS. The workshops were a significant educational strategy for a great knowledge of parents on the infantile maltreatment and its associated risk factors. Also, there was improvement in the possibility of families to control and to prevent the maltreatment. These strategies may be used for a harmonic education of parents of these children and they may be spread to other institutions where Down's children are treated or with specific adaptations to centers where handicapped children assist.

  20. Internal tremor in Parkinson's disease, multiple sclerosis, and essential tremor.

    Science.gov (United States)

    Cochrane, Graham D; Rizvi, Syed; Abrantes, Ana; Crabtree, Brigid; Cahill, Jonathan; Friedman, Joseph H

    2015-10-01

    Internal tremor (IT) is a poorly recognized symptom that has been described in Parkinson's disease (PD). Described as a feeling of tremor in the extremities or trunk without actual movement, ITs are not debilitating but can be bothersome to patients. The origin of the sensation is unknown., and ITs may be prevalent in other diseases than PD. The present study sought to expand knowledge about IT by confirming their presence in PD, and determining their prevalence in Multiple Sclerosis (MS), and Essential Tremor (ET). A survey was developed in order to determine the prevalence of IT in PD, MS, and ET and to learn what associations with various disease characteristics were present. The survey was administered to 89 consecutive PD, 70 MS, and 11 ET patients. ITs were found to be a prevalent symptom in all three disorders (32.6% of PD, 35.9% of MS, and 54.5% of ET subjects reported experiencing ITs). ITs were found to be associated both with the subjects' perceived levels of anxiety and the presence of visible tremors. ITs appear to be a common symptom in all three disorders studied. These results need to be confirmed and compared to appropriate control populations. Copyright © 2015. Published by Elsevier Ltd.

  1. Violencia y TV infantil

    Directory of Open Access Journals (Sweden)

    Valerio Fuenzalida

    2015-01-01

    Full Text Available Se establece tres razones para discrepar del “criterio reduccionista” que relaciona la violencia televisiva con la violencia real, particularmente en lo atinente a la televisión infantil. A base de las motivaciones infantiles para ver televisión, propone algunas líneas de acción que superen ese reduccionismo y optimicen la relación niños-televisión.

  2. Medical and surgical treatment of tremors.

    Science.gov (United States)

    Schneider, Susanne A; Deuschl, Günther

    2015-02-01

    Tremor is a hyperkinetic movement disorder characterized by rhythmic oscillations of one or more body parts. Disease severity ranges from mild to severe with various degrees of impact on quality of life. Essential tremor and parkinsonian tremor are the most common etiologic subtypes. Treatment may be challenging; although several drugs are available, response may be unsatisfactory. For some tremor forms, controlled data are scarce or completely missing and treatment is often based on anecdotal evidence. In this article, we review the current literature on tremor treatment, with a focus on common forms. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. [Speech-related tremor of lips: a focal task-specific tremor].

    Science.gov (United States)

    Morita, Shuhei; Takagi, Rieko; Miwa, Hideto; Kondo, Tomoyoshi

    2002-04-01

    We report a 66-year-old Japanese woman in whom tremor of lips appeared during speech. Her past and family histories were unremarkable. On neurological examination, there was no abnormal finding except the lip tremor. Results of laboratory findings were all within normal levels. Her MRI and EEG were normal. Surface EMG studies revealed that regular grouped discharges at a frequency of about 4-5 Hz appeared in the orbicularis oris muscle only during voluntary speaking. The tremor was not observed under conditions of a purposeless phonation or a vocalization of a simple word, suggesting that the tremor was not a vocal tremor but a task-specific tremor related to speaking. Administration of a beta-blocker and consumption of small amount of alcohol could effectively improve the tremor, possibly suggesting that this type of tremor might be a clinical variant of essential tremor.

  4. Infantilism: Theoretical Construct and Operationalization

    Science.gov (United States)

    Sabelnikova, Y. V.; Khmeleva, N. L.

    2018-01-01

    The aim of this article is to define and operationalize the construct of infantilism. The methods of theoretical research involve analysis and synthesis. Age and content criteria are analyzed for childhood and adulthood. Infantile traits in an adult are described. Results: The characteristics of adult infantilism in the modern world are defined,…

  5. Diagnosis and Treatment of Common Forms of Tremor

    Science.gov (United States)

    Puschmann, Andreas; Wszolek, Zbigniew K.

    2014-01-01

    Tremor is the most common movement disorder presenting to an outpatient neurology practice and is defined as a rhythmical, involuntary oscillatory movement of a body part. The authors review the clinical examination, classification, and diagnosis of tremor. The pathophysiology of the more common forms of tremor is outlined, and treatment options are discussed. Essential tremor is characterized primarily by postural and action tremors, may be a neurodegenerative disorder with pathologic changes in the cerebellum, and can be treated with a wide range of pharmacologic and nonpharmacologic methods. Tremor at rest is typical for Parkinson’s disease, but may arise independently of a dopaminergic deficit. Enhanced physiologic tremor, intention tremor, and dystonic tremor are discussed. Further differential diagnoses described in this review include drug- or toxin-induced tremor, neuropathic tremor, psychogenic tremor, orthostatic tremor, palatal tremor, tremor in Wilson’s disease, and tremor secondary to cerebral lesions, such as Holmes’ tremor (midbrain tremor). An individualized approach to treatment of tremor patients is important, taking into account the degree of disability, including social embarrassment, which the tremor causes in the patient’s life. PMID:21321834

  6. Harmaline Tremor: Underlying Mechanisms in a Potential Animal Model of Essential Tremor

    Directory of Open Access Journals (Sweden)

    Adrian Handforth

    2012-09-01

    Full Text Available Background: Harmaline and harmine are tremorigenic β-carbolines that, on administration to experimental animals, induce an acute postural and kinetic tremor of axial and truncal musculature. This drug-induced action tremor has been proposed as a model of essential tremor. Here we review what is known about harmaline tremor.Methods: Using the terms harmaline and harmine on PubMed, we searched for papers describing the effects of these β-carbolines on mammalian tissue, animals, or humans.Results: Investigations over four decades have shown that harmaline induces rhythmic burst-firing activity in the medial and dorsal accessory inferior olivary nuclei that is transmitted via climbing fibers to Purkinje cells and to the deep cerebellar nuclei, then to brainstem and spinal cord motoneurons. The critical structures required for tremor expression are the inferior olive, climbing fibers, and the deep cerebellar nuclei; Purkinje cells are not required. Enhanced synaptic norepinephrine or blockade of ionic glutamate receptors suppresses tremor, whereas enhanced synaptic serotonin exacerbates tremor. Benzodiazepines and muscimol suppress tremor. Alcohol suppresses harmaline tremor but exacerbates harmaline-associated neural damage. Recent investigations on the mechanism of harmaline tremor have focused on the T-type calcium channel.Discussion: Like essential tremor, harmaline tremor involves the cerebellum, and classic medications for essential tremor have been found to suppress harmaline tremor, leading to utilization of the harmaline model for preclinical testing of antitremor drugs. Limitations are that the model is acute, unlike essential tremor, and only approximately half of the drugs reported to suppress harmaline tremor are subsequently found to suppress tremor in clinical trials.

  7. Using Portable Transducers to Measure Tremor Severity

    Directory of Open Access Journals (Sweden)

    Rodger Elble

    2016-05-01

    Full Text Available Background: Portable motion transducers, suitable for measuring tremor, are now available at a reasonable cost. The use of these transducers requires knowledge of their limitations and data analysis. The purpose of this review is to provide a practical overview and example software for using portable motion transducers in the quantification of tremor. Methods: Medline was searched via PubMed.gov in December 2015 using the Boolean expression “tremor AND (accelerometer OR accelerometry OR gyroscope OR inertial measurement unit OR digitizing tablet OR transducer.” Abstracts of 419 papers dating back to 1964 were reviewed for relevant portable transducers and methods of tremor analysis, and 105 papers written in English were reviewed in detail. Results: Accelerometers, gyroscopes, and digitizing tablets are used most commonly, but few are sold for the purpose of measuring tremor. Consequently, most software for tremor analysis is developed by the user. Wearable transducers are capable of recording tremor continuously, in the absence of a clinician. Tremor amplitude, frequency, and occurrence (percentage of time with tremor can be computed. Tremor amplitude and occurrence correlate strongly with clinical ratings of tremor severity. Discussion: Transducers provide measurements of tremor amplitude that are objective, precise, and valid, but the precision and accuracy of transducers are mitigated by natural variability in tremor amplitude. This variability is so great that the minimum detectable change in amplitude, exceeding random variability, is comparable for scales and transducers. Research is needed to determine the feasibility of detecting smaller change using averaged data from continuous long-term recordings with wearable transducers.

  8. Olfaction and essential tremor Olfato no tremor essencial

    Directory of Open Access Journals (Sweden)

    Lucas Barasnevicius Quagliato

    2009-03-01

    Full Text Available OBJECTIVE: To characterize the olfactory identification in 40 essential tremor (ET patients, with the University of Pennsylvania 12 Smell Identification Test (UPSIT, to correlate UPSIT scores to clinical and epidemiological data and to compare it to 89 aged matched controls. METHOD: Patients were assessed using ET Clinical Scale of Evaluation and UPSIT. RESULTS: In patients with ET, the UPSIT medium score was 9.10, similar to the control group (9.11, which was also observed in all age groups. ET severity did not correlate to UPSIT scores. CONCLUSION: This study demonstrated normality of olfactory identification on ET, qualifying UPSIT to be an important tool on tremor differential diagnosis of undetermined origin.OBJETIVO: Caracterizar a identificação olfatória em 40 pacientes com tremor essencial, através do Teste de Identificação de 12 Cheiros da Universidade de Pensilvânia (TICUP, correlacioná-la aos dados clínicos e epidemiológicos e compará-la com 89 indivíduos normais. MÉTODO: Os pacientes foram avaliados com a Escala Clínica de Avaliação do TE e com o TICUP. RESULTADOS: A média de acertos no TICUP nos pacientes com TE foi 9,10, semelhante à do grupo controle (9,11, sendo isso observado em todas as faixas etárias. A gravidade do TE não se correlacionou com o resultado do TICUP. CONCLUSÃO: Este estudo demonstrou normalidade da identificação olfatória no TE, qualificando o TICUP como ferramenta importante no diagnóstico diferencial dos tremores de causa indeterminada.

  9. Differential Diagnosis of Parkinson Disease, Essential Tremor, and Enhanced Physiological Tremor with the Tremor Analysis of EMG

    Directory of Open Access Journals (Sweden)

    Jie Zhang

    2017-01-01

    Full Text Available We investigate the differential diagnostic value of tremor analysis of EMG on Parkinson’s disease (PD, essential tremor (ET, and enhanced physiological tremor (EPT. Clinical data from 25 patients with PD, 20 patients with ET, and 20 patients with EPT were collected. The tremor frequency and muscle contraction pattern of the resting, posture, and 500 g and 1000 g overload were recorded. The frequency of PD tremor was 4–6 Hz, and the frequency of ET was also in this range; the frequency of EPT is 6–12 hz having some overlap with PD. The muscle contraction patterns of the ET and EPT group were mainly synchronous contraction, and the muscle contraction mode of the PD group was mainly alternating contraction. Having tremor latency from rest to postural position and having changes in tremor amplitude after mental concentration in PD might distinguish ET. Tremor analysis of EMG was able to distinguish PD from ET and EPT by varying the tremor frequency and muscle contraction pattern. It can also differentiate between PD and ET by the latency and concentration effect and ET and EPT by weight load effect.

  10. El maltrato infantil

    OpenAIRE

    Mazo Toledo, María

    2014-01-01

    Se estudia el maltrato infantil desde sus antecedentes, así como su tipología, causas y consecuencias. Además de abordar el abuso sexual de forma más amplia. También se expone la evaluación psicológica junto con sus técnicas. Es fundamental la utilización de medidas para la prevención del maltrato infantil, pues una gran parte de los problemas en el niño se ven reflejados en su vida adulta

  11. Infantile abuse: Radiological diagnosis

    Directory of Open Access Journals (Sweden)

    Ana Teresa Araujo Reyes

    2006-08-01

    Full Text Available Infantile abuse is a frequent problem, that must be suspected to bediagnosed, the children victims of infantile abuse can present anytype of injury, nevertheless there are associated injuries common toan inferred trauma that constitute radiological patterns highly specific for abuse, among them are the metafisial injuries, posterior costal fractures and first costal arc fractures, fractures of the toracolumbar region, fractures without apparent explanation, fractures in different stage of evolution, subdural hematoma, subarachnoid hemorrhage, intraparenquimatose contusion and diffuse axonal injury, which combined with the history of the trauma, the age, the development of mental abilities, as well as the mechanism guides the injury diagnose.

  12. Characterizing Orthostatic Tremor Using a Smartphone Application

    Directory of Open Access Journals (Sweden)

    Arjun Balachandar

    2017-07-01

    Full Text Available Background: Orthostatic tremor is one of the few tremor conditions requiring an electromyogram for definitive diagnosis since leg tremor might not be visible to the naked eye.Phenomenology Shown: An iOS application (iSeismometer, ObjectGraph LLC, New York using an Apple iPhone 5 (Cupertino, CA, USA inserted into the patient’s sock detected a tremor with a frequency of 16.4 Hz on both legs.Educational Value: The rapid and straightforward accelerometer-based recordings accomplished in this patient demonstrate the ease with which quantitative analysis of orthostatic tremor can be conducted and, importantly, demonstrates the potential application of this approach in the assessment of any lower limb tremor

  13. Rest tremor in idiopathic adult-onset dystonia.

    Science.gov (United States)

    Gigante, A F; Berardelli, A; Defazio, G

    2016-05-01

    Tremor in dystonia has been described as a postural or kinetic abnormality. In recent series, however, patients with idiopathic adult-onset dystonia also displayed rest tremor. The frequency and distribution of rest tremor were studied in a cohort of 173 consecutive Italian patients affected by various forms of idiopathic adult-onset dystonia attending our movement disorder clinic over 8 months. Examination revealed tremor in 59/173 patients (34%): 12 patients had head tremor, 34 patients had arm tremor, whilst 13 patients presented tremor in both sites. Head tremor was postural in all patients, whereas arm tremor was postural/kinetic in 28 patients, only at rest in one and both postural/kinetic and at rest in 18 patients. Patients with tremor were more likely to have segmental/multifocal dystonia. Patients who had rest tremor (either alone or associated with action tremor) had a higher age at dystonia onset and a greater frequency of dystonic arm involvement than patients with action tremor alone or without tremor. Both action and rest tremor are part of the tremor spectrum of adult-onset dystonia and are more frequently encountered in segmental/multifocal dystonia. The higher age at dystonia onset and the greater frequency of arm dystonia in patients with rest tremor may have pathophysiological implications and may account, at least in part, for the previous lack of identification of rest tremor as one possible type of tremor present in dystonia. © 2016 EAN.

  14. Thalamic Deep Brain Stimulation for Essential Tremor Also Reduces Voice Tremor.

    Science.gov (United States)

    Kundu, Bornali; Schrock, Lauren; Davis, Tyler; House, Paul A

    2017-12-12

    Voice tremor is a common feature of essential tremor (ET) that is difficult to treat medically and significantly affects quality of life. Deep brain stimulation (DBS) of the ventral intermediate nucleus (Vim) of the thalamus is effective in improving contralateral distal limb tremor and has been shown in limited studies to affect voice tremor. Our objective was to retrospectively evaluate whether Vim-DBS used to treat patients with essential motor tremor also effectively treated underlying concurrent voice tremor and assess whether particular lead locations were favorable for treating vocal tremor. In this retrospective cohort study, patients had unilateral or bilateral lead placement and were monitored for up to 12 months. We used the Fahn-Tolosa-Marin (FTM) subscore to assess vocal tremor. Changes in vocal tremor before and after stimulation and over several sessions were assessed. Of the 77 patients who met the inclusion criteria and were treated for essential tremor, 20 (26%) patients had vocal tremor prior to stimulation. Active Vim-DBS decreased the amplitude of voice tremor by 80% (p centroid of stimulation showed that Vim thalamic stimulation that is more anterior on average yielded better voice tremor control, significantly so on the left side (p < 0.05). Additionally, there was improvement in head, tongue, and face tremor scores (p < 0.05). Unilateral and bilateral Vim-DBS targeted to treat the motor component of essential tremor also dramatically decreased the amplitude of voice tremor in this group of patients, suggesting a potential benefit of this treatment for affected patients. © 2017 International Neuromodulation Society.

  15. Control of lithium tremor with propranolol.

    Science.gov (United States)

    Lapierre, Y D

    1976-04-03

    Lithium tremor is an irregular, nonrhythmic tremor of the distal extremities, variable in both intensity and frequency. It is clinically differentiated from essential tremor and tremors due to anxiety and neuroleptics. The pathophysiologic mechanisms are hypothesized to be of perpheral origin. Five patients were successfully treated with propranolol. In general, the dosage of propranolol must be individually adjusted and is usually from 30 to 40 mg daily in divided doses. This blocker of beta-adrenergic receptors remains effective with long-term administration and increases in dosage are not required.

  16. El dibujo infantil /

    OpenAIRE

    Rada Ojer, Ángela

    2012-01-01

    La autora en este trabajo habla del dibujo infantil que es un lenguaje y una herramienta de alto valor comunicativo y valora cómo las situaciones vitales por las que pasa un niño pueden quedar reflejadas en sus manifestaciones gráficas

  17. Behandling af infantile spasmer

    DEFF Research Database (Denmark)

    Kjærsgård, Lars; Rasmussen, Niels

    2006-01-01

    Infantile spasms (IS) are characterised by neurodevelopmental regression, a unique type of seizures and a hypsarrhythmic EEG pattern. Studies recommend the medical treatment of IS as a positive short-term outcome with respect to the spasms and in the resolution of the hypsarrhythmia. However...

  18. Infantile hypertrophic pyloric stenosis

    DEFF Research Database (Denmark)

    Pedersen, Rikke Neess; Garne, Ester; Loane, Maria

    2008-01-01

    OBJECTIVE: The objective of this study was to present epidemiologic data on infantile hypertrophic pyloric stenosis (IHPS) from seven well-defined European regions, and to compare incidence and changes in incidence over time between these regions. METHODS: This was a population-based study using ...

  19. Uma breve revisão histórica sobre a construção dos conceitos do Autismo Infantil e da síndrome de Asperger A brief historic review of the conceptions of Autism and Asperger syndrome

    Directory of Open Access Journals (Sweden)

    Ana Carina Tamanaha

    2008-01-01

    Full Text Available O objetivo deste estudo foi revisar historicamente os conceitos do Autismo Infantil e da síndrome de Asperger. Por meio de revisão de literatura os autores buscaram mostrar as modificações, ao longo do tempo, das concepções teóricas e das descrições clínicas destes quadros.The aim of this study was to review historically the concepts of Autism and Asperger syndrome. Through literature review, the authors evidence the changes on theoretical concepts and clinical descriptions of Autism and Asperger syndrome with time.

  20. Differences in striatal dopamine transporter density between tremor dominant and non-tremor Parkinson's disease

    International Nuclear Information System (INIS)

    Kaasinen, Valtteri; Kinos, Maija; Joutsa, Juho; Seppaenen, Marko; Noponen, Tommi

    2014-01-01

    Parkinson's disease (PD) can manifest with a tremor-dominant or a non-tremor (akinetic-rigid) phenotype. Although the tremor-dominant subtype may show a better prognosis, there is limited information on the phenotypic differences regarding the level of striatal dopamine transmission. The present study investigated striatal dopamine transporter (DAT) binding characteristics in a large sample of patients with and without tremor. [ 123 I]FP-CIT SPECT scans of 231 patients with a clinical diagnosis of PD and abnormal FP-CIT binding (157 with tremor, 74 without tremor) and 230 control patients with normal FP-CIT binding (148 with tremor, 82 without tremor) were analysed using an automated region-of-interest analysis of the scans (BRASS). Specific striatal binding ratios were compared between phenotypes and groups using age, sex, and symptom duration, predominant side of symptoms, dopaminergic medications and scanner as covariates. Patients with PD had 28.1 - 65.0 % lower binding in all striatal regions compared to controls (p < 0.001). The mean FP-CIT caudate nucleus uptake and the left caudate nucleus uptake were higher in PD patients with tremor than in PD patients without tremor (mean 9.0 % higher, left 10.5 % higher; p < 0.05), whereas there were no differences between tremor and non-tremor control patients. No significant effects of tremor on DAT binding were observed in the anterior or posterior putamen. The motor phenotype is associated with the extent of caudate dopamine terminal loss in PD, as dopamine function is relatively more preserved in tremor patients. Symptom type is related to caudate dopamine function only in association with Parkinsonian dopaminergic degeneration, not in intact dopamine systems in patients with non-PD tremor. (orig.)

  1. Orthostatic Tremor: An Update on a Rare Entity

    Science.gov (United States)

    Benito-León, Julián; Domingo-Santos, Ángela

    2016-01-01

    Background Orthostatic tremor (OT) remains among the most intriguing and poorly understood of movement disorders. Compared to Parkinson’s disease or even essential tremor, there are very few articles addressing more basic science issues. In this review, we will discuss the findings of main case series on OT, including data on etiology, pathophysiology, diagnostic approach, treatment strategies, and outcome. Methods Data for this review were identified by searching PUBMED (January 1966 to August 2016) for the terms “orthostatic tremor” or “shaky leg syndrome,” which yielded 219 entries. We did not exclude papers on the basis of language, country, or publication date. The electronic database searches were supplemented by articles in the authors’ files that pertained to this topic. Results Owing to its rarity, the current understanding of OT is limited and is mostly based on small case series or case reports. Despite this, a growing body of evidence indicates that OT might be a progressive condition that is clinically heterogeneous (primary vs. secondary cases) with a broader spectrum of clinical features, mainly cerebellar signs, and possible cognitive impairment and personality disturbances. Along with this, advanced neuroimaging techniques are now demonstrating distinct anatomical and functional changes, some of which are consistent with neuronal loss. Discussion OT might be a family of diseases, unified by the presence of leg tremor, but further characterized by etiological and clinical heterogeneity. More work is needed to understand the pathogenesis of this condition. PMID:27713855

  2. Tremor in neurodegenerative ataxias, Huntington disease and tic disorder.

    Science.gov (United States)

    Rudzińska, M; Krawczyk, M; Wójcik-Pędziwiatr, M; Szczudlik, A; Tomaszewski, T

    2013-01-01

    Tremor is the most prevalent movement disorder, defined as rhythmic oscillations of a body part, caused by alternating or synchronic contractions of agonistic or antagonistic muscles. The aim of the study was to assess prevalence and to characterize parameters of tremor accompanying de-generative ataxias, Huntington disease (HD) and tic disorders in comparison with a control group. Forty-three patients with degenerative ataxias, 28 with HD and 26 with tic disorders together with 51 healthy controls were included in the study. For each participant, clinical and instrumental assessment (accelerometer, electromyography [EMG], graphic tablet) of hand tremor was performed. Frequency and severity of tremor were assessed in three positions: at rest (rest tremor), with hands extended (postural tremor), during the 'finger-to-nose' test and during Archimedes spiral drawing (kinetic tremor). Based on the mass load test, the type of tremor was determined as essential tremor type or enhanced physiological tremor type. The incidence of tremor in the accelerometry in patients with degenerative ataxia (50%) significantly differs from controls (10%) (p = 0.001). The dominant tremor was postural, low-intense, with 7-Hz frequency, essential tremor (23%) or other tremor type (23%), while enhanced physiological tremor was the least frequent (2%). Tremor in patients with HD and tic disorders was found in 10% and 20% of patients, respectively, similarly to the control group. Tremor was mild, postural and of essential tremor type, less frequently of enhanced physiological tremor type. No correlation between severity of tremor and severity of disease was found. The prevalence of tremor is considerably higher among patients with degenerative ataxias compared with HD, tic disorder and the control group. The most common type of tremor accompanying ataxias, HD and tic disorders is essential tremor type.

  3. Seismic wave triggering of nonvolcanic tremor, episodic tremor and slip, and earthquakes on Vancouver Island

    Science.gov (United States)

    Rubinstein, Justin L.; Gomberg, Joan; Vidale, John E.; Wech, Aaron G.; Kao, Honn; Creager, Kenneth C.; Rogers, Garry

    2009-02-01

    We explore the physical conditions that enable triggering of nonvolcanic tremor and earthquakes by considering local seismic activity on Vancouver Island, British Columbia during and immediately after the arrival of large-amplitude seismic waves from 30 teleseismic and 17 regional or local earthquakes. We identify tremor triggered by four of the teleseismic earthquakes. The close temporal and spatial proximity of triggered tremor to ambient tremor and aseismic slip indicates that when a fault is close to or undergoing failure, it is particularly susceptible to triggering of further events. The amplitude of the triggering waves also influences the likelihood of triggering both tremor and earthquakes such that large amplitude waves triggered tremor in the absence of detectable aseismic slip or ambient tremor. Tremor and energy radiated from regional/local earthquakes share the same frequency passband so that tremor cannot be identified during these smaller, more frequent events. We confidently identify triggered local earthquakes following only one teleseism, that with the largest amplitude, and four regional or local events that generated vigorous aftershock sequences in their immediate vicinity. Earthquakes tend to be triggered in regions different from tremor and with high ambient seismicity rates. We also note an interesting possible correlation between large teleseismic events and episodic tremor and slip (ETS) episodes, whereby ETS events that are "late" and have built up more stress than normal are susceptible to triggering by the slight nudge of the shaking from a large, distant event, while ETS events that are "early" or "on time" are not.

  4. Statistical properties of mine tremor aftershocks

    CSIR Research Space (South Africa)

    Kgarume, TE

    2010-02-01

    Full Text Available Mine tremors and their aftershocks pose a risk to mine workers in the deep gold mines of South Africa. The statistical properties of mine-tremor aftershocks were investigated as part of an endeavour to assess the hazard and manage the risk. Data...

  5. Triggered tremor sweet spots in Alaska

    Science.gov (United States)

    Gomberg, Joan; Prejean, Stephanie

    2013-01-01

    To better understand what controls fault slip along plate boundaries, we have exploited the abundance of seismic and geodetic data available from the richly varied tectonic environments composing Alaska. A search for tremor triggered by 11 large earthquakes throughout all of seismically monitored Alaska reveals two tremor “sweet spots”—regions where large-amplitude seismic waves repeatedly triggered tremor between 2006 and 2012. The two sweet spots locate in very different tectonic environments—one just trenchward and between the Aleutian islands of Unalaska and Akutan and the other in central mainland Alaska. The Unalaska/Akutan spot corroborates previous evidence that the region is ripe for tremor, perhaps because it is located where plate-interface frictional properties transition between stick-slip and stably sliding in both the dip direction and laterally. The mainland sweet spot coincides with a region of complex and uncertain plate interactions, and where no slow slip events or major crustal faults have been noted previously. Analyses showed that larger triggering wave amplitudes, and perhaps lower frequencies (tremor. However, neither the maximum amplitude in the time domain or in a particular frequency band, nor the geometric relationship of the wavefield to the tremor source faults alone ensures a high probability of triggering. Triggered tremor at the two sweet spots also does not occur during slow slip events visually detectable in GPS data, although slow slip below the detection threshold may have facilitated tremor triggering.

  6. Treatment of lithium induced tremor with atenolol.

    Science.gov (United States)

    Davé, M

    1989-03-01

    This is the first report on the successful treatment of one patient with lithium induced tremor with hydrophilic atenolol, which is a relatively selective beta 1 adrenergic receptor blocker. Atenolol's advantages over lipophilic beta blockers in the treatment of lithium induced tremor are discussed.

  7. Effect of 4-Horizontal Rectus Muscle Tenotomy on Visual Function and Eye Movement Records in Patients with Infantile Nystagmus Syndrome without Abnormal Head Posture and Strabismus: A Prospective Study

    Directory of Open Access Journals (Sweden)

    Ahmad Ameri

    2013-10-01

    Full Text Available Purpose: To evaluate the effect of tenotomy on visual function and eye movement records in patients with infantile nystagmus syndrome (INS without abnormal head posture (AHP and strabismusMethods: A prospective interventional case-series of patients with INS with no AHP or strabismus. Patients underwent 4-horizontal muscle tenotomy. Best corrected visual acuity (BCVA and eye movement recordings were compared pre and postoperatively.Results: Eight patients were recruited in this study with 3 to 15.5 months of follow-up. Patients showed significant improvement in their visual function. Overall nystagmus amplitude and velocity was decreased 30.7% and 19.8%, respectively. Improvements were more marked at right and left gazes. Conclusion: Tenotomy improves both visual function and eye movement records in INS with no strabismus and eccentric null point. The procedure has more effect on lateral gazes with worse waveforms, thus can broaden area with better visual function. We recommend this surgery in patients with INS but no associated AHP or strabismus.

  8. Afterslip, tremor, and the Denali fault earthquake

    Science.gov (United States)

    Gomberg, Joan; Prejean, Stephanie; Ruppert, Natalia

    2012-01-01

    We tested the hypothesis that afterslip should be accompanied by tremor using observations of seismic and aseismic deformation surrounding the 2002 M 7.9 Denali fault, Alaska, earthquake (DFE). Afterslip happens more frequently than spontaneous slow slip and has been observed in a wider range of tectonic environments, and thus the existence or absence of tremor accompanying afterslip may provide new clues about tremor generation. We also searched for precursory tremor, as a proxy for posited accelerating slip leading to rupture. Our search yielded no tremor during the five days prior to the DFE or in several intervals in the three months after. This negative result and an array of other observations all may be explained by rupture penetrating below the presumed locked zone into the frictional transition zone. While not unique, such an explanation corroborates previous models of megathrust and transform earthquake ruptures that extend well into the transition zone.

  9. Genetisk udredning ved infantile spasmer

    DEFF Research Database (Denmark)

    Hansen, Lars Kjærsgaard; Ousager, Lilian Bomme; Møller, Rikke Steensbjerre

    2012-01-01

    Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH as the fi......Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH...

  10. Electrophysiologic characteristics of tremor in Parkinson?s disease and essential tremor

    Directory of Open Access Journals (Sweden)

    Ederson Cichaczewski

    2014-04-01

    Full Text Available Tremor in essential tremor (ET and Parkinson’s disease (PD usually present specific electrophysiologic profiles, however amplitude and frequency may have wide variations. Objective: To present the electrophysiologic findings in PD and ET. Method: Patients were assessed at rest, with posture and action. Seventeen patients with ET and 62 with PD were included. PD cases were clustered into three groups: predominant rest tremor; tremor with similar intensity at rest, posture and during kinetic task; and predominant kinetic tremor. Results: Patients with PD presented tremors with average frequency of 5.29±1.18 Hz at rest, 5.79±1.39 Hz with posture and 6.48±1.34 Hz with the kinetic task. Tremor in ET presented with an average frequency of 5.97±1.1 Hz at rest, 6.18±1 Hz with posture and 6.53±1.2 Hz with kinetic task. Seven (41.2% also showed rest tremor. Conclusion: The tremor analysis alone using the methodology described here, is not sufficient to differentiate tremor in ET and PD.

  11. Essential Tremor: A Neurodegenerative Disease?

    Directory of Open Access Journals (Sweden)

    Julian Benito-Leon

    2014-07-01

    Full Text Available Background: Essential tremor (ET is one of the most common neurological disorders among adults, and is the most common of the many tremor disorders. It has classically been viewed as a benign monosymptomatic condition, yet over the past decade, a growing body of evidence indicates that ET is a progressive condition that is clinically heterogeneous, as it may be associated with a spectrum of clinical features, with both motor and non‐motor elements. In this review, I will describe the most significant emerging milestones in research which, when taken together, suggest that ET is a neurodegenerative condition.Methods: A PubMed search conducted in June 2014 crossing the terms “essential tremor” (ET and “neurodegenerative” yielded 122 entries, 20 of which included the term “neurodegenerative” in the article title. This was supplemented by articles in the author's files that pertained to this topic.Results/Discussion: There is an open and active dialogue in the medical community as to whether ET is a neurodegenerative disease, with considerable evidence in favor of this. Specifically, ET is a progressive disorder of aging associated with neuronal loss (reduction in Purkinje cells as well as other post‐mortem changes that occur in traditional neurodegenerative disorders. Along with this, advanced neuroimaging techniques are now demonstrating distinct structural changes, several of which are consistent with neuronal loss, in patients with ET. However, further longitudinal clinical and neuroimaging longitudinal studies to assess progression are required.

  12. Beta 1 versus nonselective blockade in therapy of essential tremor.

    Science.gov (United States)

    Larsen, T A; Teräväinen, H

    1983-01-01

    The beta 1-selective blocker metoprolol was compared to propranolol and a placebo in a double-blind crossover trial in 24 patients with essential tremor. Both beta blockers suppressed the essential tremor, but metoprolol, which caused a mean reduction of 32.0% in tremor intensity from the base-line value, was less effective than propranolol, which reduced mean tremor intensity by 41.3%. Subjective benefit for their tremor was found by 15 of the patients taking propranolol and by one taking metoprolol. The tremor frequency was not affected. No serious side effects were observed. Metoprolol may offer an alternative for those essential tremor patients who cannot tolerate propranolol.

  13. Staged Bilateral Laparoscopic Adrenalectomy for Infantile ACTH-independent Cushing's Syndrome (Bilateral Micronodular Non-pigmented Adrenal Hyperplasia): A Case Report.

    Science.gov (United States)

    Simforoosh, Nasser; Razzaghy Azar, Maryam; Soltani, Mohmmad Hossein; Nourbakhsh, Mona; Shemshaki, Hamidreza

    2017-08-29

    ACTH-independent Cushing's syndrome is an uncommon disorder in children. While laparoscopic adrenalectomy is well-established in adults, it is rarely used in infants and is associated with some concerns. A seven-month infant was referred to our hospital due to progressive signs and symptoms of Cushing's syndrome. Laboratory data confirmed ACTH-independent hypercortisolism. No history of exogenous corticosteroid contact was observed. The patient underwent left transperitoneal laparoscopic adrenalectomy when she was 7 months old, nevertheless,complete response was not seen. The patient underwent right laparoscopic adrenalectomy (contra-lateral adrenal gland) when she was 20 months old. The signs and symptoms of Cushing's syndrome began to resolve and serum and urine cortisol levels became normal 3 months after the second surgery. laparoscopic adrenalectomy is safe and feasible in infants, and in this case, relieved patient of the symptoms and saved her life.

  14. Focused Ultrasound for Essential Tremor: Review of the Evidence and Discussion of Current Hurdles

    Directory of Open Access Journals (Sweden)

    Mohammad Rohani

    2017-05-01

    Full Text Available Background. While there is no breakthrough progress in the medical treatment of essential tremor (ET, in the past decades several remarkable achievements happened in the surgical field, such as radiofrequency thalamotomy, thalamic deep brain stimulation and gamma knife thalamotomy. The most recent advance in this area is magnetic resonance-guided focused ultrasound (MRgFUS. Methods. Purpose of this review is to discuss the new developments and trials of MRgFUS in the treatment of ET and other tremor disorders. Results. MRgFUS is an incision-less surgery performed without anesthesia and ionizing radiation (no risk of cumulative dose and delayed side effects. Studies have shown the safety and effectiveness of unilateral MRgFUS-thalamotomy in the treatment of ET. It has been successfully used in few patients with Parkinson's disease-related tremor and fewer patients with Fragile X-associated Tremor/Ataxia Syndrome. Safety and long-term effects of the procedure are still unclear, as temporary and permanent adverse events have been reported as well as reoccurrence of tremor. Discussion. MRgFUS is a promising new surgical approach with still a number of unknowns and unsolved issues. It represents a valuable option particularly for patients who refused or could not be candidate for other procedures, deep brain stimulation in particular. 

  15. Bilateral Hypertrophic Olivary Degeneration and Holmes Tremor without Palatal Tremor: An Unusual Association

    Directory of Open Access Journals (Sweden)

    Carlos Cosentino

    2016-07-01

    Full Text Available Background: Lesions in the Guillain–Mollaret triangle or dentate-rubro-olivary pathway may lead to hypertrophic olivary degeneration (HOD, a secondary trans-synaptic degeneration of the inferior olivary nucleus. HOD is usually associated with palatal tremor and rarely with Holmes tremor. Bilateral HOD is a very unusual condition and very few cases are reported. Case Report: We report here two cases of bilateral HOD after two different vascular lesions located at the decussation of superior cerebellar peduncles, thus impairing both central tegmental tracts and interrupting bilaterally the dentate-rubral-olivary pathway. Interestingly, both developed bilateral Holmes tremor but not palatal tremor. Discussion: Lesions in some of the components in the Guillain–Mollaret triangle may develop Holmes tremor with HOD and without palatal tremor. Magnetic resonance imaging is an invaluable tool in these cases. Better understanding of the pathways in this loop is needed.

  16. [Disappearance of essential neck tremor after pontine base infarction].

    Science.gov (United States)

    Urushitani, M; Inoue, H; Kawamura, K; Kageyama, T; Fujisawa, M; Nishinaka, K; Udaka, F; Kameyama, M

    1996-08-01

    Mechanism of essential tremor remains unknown. Central oscillators, postulated in thalamus, inferior olive, and spinal cord are thought to be important to form rhythmicity, and finally to stimulate spinal or medullary motor cells, leading trembling muscle contraction, tremor. Among several subtypes of essential familial tremor, including hand tremor, neck tremor, and voice tremor, essential neck tremor is a common disorder, and its pathophysiology seems different from that of typical essential hand tremor, since patients with essential hand tremor are responsive to beta blocker, whereas those with neck tremor are usually not. We experienced a 41-year-old left handed woman with essential neck tremor in whom neck titubation disappeared shortly after pontine base infarct. She was our patient in the outpatient clinic with the diagnosis of essential neck tremor. The tremor developed when she was teenage, and has been localized in the neck muscles. Alcohol intake had apparently diminished it transiently. Her mother also had the tremor in her neck. She was admitted to our hospital with sudden onset of right-sided limb weakness and speech disturbance. Neurological examination showed right hemiparesis including the ipsilateral face, scanning speech, and cerebellar limb ataxia on the same side. In addition, there was no tremor in her neck. Brain MR imaging revealed a pontine base infarct at the level of middle pons, which was consistent with paramedian artery territory. The hemiparesis and speech disturbance improved almost completely after treatment, and her neck tremor has never occurred in one year follow-up. In our patient, efficacy of alcohol imply that essential neck tremor and hand tremor had same central nervous pathway including central oscillator in common, and descending cortical fibers is seemingly associated with diminishing patient's tremor. Pathophysiology of essential neck tremor was discussed with reviewing previous literature.

  17. Infantile spasms and pigmentary mosaicism

    DEFF Research Database (Denmark)

    Hansen, Lars K; Bygum, Anette; Krogh, Lotte N

    2010-01-01

    Summary We present a 3-year-old boy with pigmentary mosaicism and persistent intractable infantile spasms due to mosaicism of chromosome 7. Getting the diagnosis of pigmentary mosaicism in a child with infantile spasms may not be easy, as most diagnostic work-up is done in infancy, at a time when...

  18. [Infantile autism and mirror neurons].

    Science.gov (United States)

    Cornelio-Nieto, J O

    2009-02-27

    Infantile autism is a disorder that is characterised by alterations affecting reciprocal social interactions, abnormal verbal and non-verbal communication, poor imaginative activity and a restricted repertoire of activities and interests. The causes of autism remain unknown, but there are a number of different approaches that attempt to explain the neurobiological causes of the syndrome. A recent theory that has been considered is that of a dysfunction in the mirror neuron system (MNS). The MNS is a neuronal complex, originally described in monkeys and also found in humans, that is related with our movements and which offers specific responses to the movements and intended movements of other subjects. This system is believed to underlie processes of imitation and our capacity to learn by imitation. It is also thought to play a role in language acquisition, in expressing the emotions, in understanding what is happening to others and in empathy. Because these functions are altered in children with autism, it has been suggested that there is some dysfunction present in the MNS of those with autism. Dysfunction of the MNS could account for the symptoms that are observed in children with autism.

  19. [Idiopathic rabbit syndrome: a case report].

    Science.gov (United States)

    Miwa, H; Sasaki, Y; Hatori, K; Tanaka, S; Mizuno, Y

    1999-10-01

    We report a patient with idiopathic oromandibular tremor resembling rabbit syndrome. The patient is a 36-year-old Japanese woman without any past and medical histories. On neurological examination, there was no abnormal finding except the oromandibular tremor. The tremor was confined to the jaw and perioral muscles. There was no extremity tremor. Laboratory findings were all normal, as well as her MRI and EEG. Surface EMG studies revealed that regular grouped discharges at a frequency of about 6 Hz appeared in the masseter, the orbicularis oris, and the digastric, and that the alternative contractions were found between the masseter and the digastric. Oral administration of tiapride was effective, but diazepam, trihexyphenydil, levodopa, and a beta-blocker were without effect. Although she had not taken neuroleptics, the appearance of the tremor was identical to the rabbit syndrome. The efficacy of the dopamine blockade may suggest that an abnormal basal ganglia function contributes to the pathophysiologic mechanism underlying this type of tremor.

  20. Infantile pyoderma gangrenosum.

    LENUS (Irish Health Repository)

    McAleer, Maeve A

    2008-02-01

    Pyoderma gangrenosum (PG) is rare in infants. There have been 12 cases of PG in infants (<12 months old) reported in the past 25 years, to our knowledge. Six of these cases have been successfully controlled with systemic steroids, and one case with topical steroids alone. We report a case of an 8-month-old infant whose PG was aggressive and unresponsive to systemic steroids. Adjuvant treatment with cyclosporine was required to achieve healing. We review the previous cases of infantile PG and the therapeutic options in this age group.

  1. Hipoacusia neurosensorial infantil

    OpenAIRE

    Santos Santos, Saturnino

    2004-01-01

    En nuestro medio existe un déficit de información acerca de la importancia de los factores de riesgo implicados en la aparición de hipoacusia neurosensorial infantil y de las etiologías encontradas. Se estudió retrospectivamente una población de 2.656 niños enviados a nuestro centro para valoración auditiva por presentar factores de riesgo. 481 niños fueron diagnosticados de hipoacusia neurosensorial uni o bilateral de cualquier grado. La edad media al diagnóstico de hipoacusia neurosensorial...

  2. Espacio infantil y ludoteca

    OpenAIRE

    Lejarraga Molinero, Nekane

    2009-01-01

    Este proyecto desarrolla el estudio y análisis de un cambio de uso de un proyecto de uso administrativo en la ciudad de Pamplona. La realización de un cambio de uso de un edificio administrativo a un ESPACIO INFANTIL Y LUDOTECA en el barrio de la Rochapea. Se trata fundamentalmente de un centro lúdico junto al río Arga en el que puedan jugar y desarrollarse de una forma controlada los niños de este nuevo barrio.

  3. Cataloging tremor at Kilauea Volcano, Hawaii

    Science.gov (United States)

    Thelen, W. A.; Wech, A.

    2013-12-01

    Tremor is a ubiquitous seismic feature on Kilauea volcano, which emanates from at least three distinct sources. At depth, intermittent tremor and earthquakes thought to be associated with the underlying plumbing system of Kilauea (Aki and Koyanagi, 1981) occurs approximately 40 km below and 40 km SW of the summit. At the summit of the volcano, nearly continuous tremor is recorded close to a persistently degassing lava lake, which has been present since 2008. Much of this tremor is correlated with spattering at the lake surface, but tremor also occurs in the absence of spattering, and was observed at the summit of the volcano prior to the appearance of the lava lake, predominately in association with inflation/deflation events. The third known source of tremor is in the area of Pu`u `O`o, a vent that has been active since 1983. The exact source location and depth is poorly constrained for each of these sources. Consistently tracking the occurrence and location of tremor in these areas through time will improve our understanding of the plumbing geometry beneath Kilauea volcano and help identify precursory patterns in tremor leading to changes in eruptive activity. The continuous and emergent nature of tremor precludes the use of traditional earthquake techniques for automatic detection and location of seismicity. We implement the method of Wech and Creager (2008) to both detect and localize tremor seismicity in the three regions described above. The technique uses an envelope cross-correlation method in 5-minute windows that maximizes tremor signal coherency among seismic stations. The catalog is currently being built in near-realtime, with plans to extend the analysis to the past as time and continuous data availability permits. This automated detection and localization method has relatively poor depth constraints due to the construction of the envelope function. Nevertheless, the epicenters distinguish activity among the different source regions and serve as

  4. What is This Thing Called Tremor?

    Science.gov (United States)

    Rubin, A. M.; Bostock, M. G.

    2017-12-01

    Tremor has many enigmatic attributes. The LFEs that comprise it have a dearth of large events, implying a characteristic scale. Bostock et al. (2015) found LFE duration beneath Vancouver Island to be nearly independent of magnitude. That duration ( 0.4 s), multiplied by a shear wave speed, defines a length scale far larger than the spatial separation between consecutive but non-colocated detections. If one LFE ruptures multiple brittle patches in a ductile matrix its propagation speed can be slowed to the extent that consecutive events don't overlap, but then why aren't there larger and smaller LFEs with larger and smaller durations? Perhaps there are. Tremor seismograms from Vancouver Island are often saturated with direct arrivals, by which we mean time lags between events shorter than typical event durations. Direct evidence of this, given the small coda amplitude of LFE stacks, is that seismograms at stations many kilometers apart often track each other wiggle for wiggle. We see this behavior over the full range tremor amplitudes, from close to the noise level on a tremor-free day to 10 times larger. If the LFE magnitude-frequency relation is time-independent, this factor of 10 implies that the LFE occurrence rate during loud tremor is 10^2=100 times that during quiet tremor (>250 LFEs per second). We investigate the implications of this by comparing observed seismograms to synthetics made from the superposition of "LFEs" that are Poissonian in time over a range of average rates. We find that provided the LFEs have a characteristic scale (whether exponential or power law), saturation completely obscures the moment-duration scaling of the contributing events; that is, the moment-duration scaling of LFEs may be identical to that of regular earthquakes. Nonetheless, there are subtle differences between our synthetics and real seismograms, remarkably independent of tremor amplitude, that remain to be explained. Foremost among these is a slightly greater affinity of

  5. Infantile Refsum Disease

    Science.gov (United States)

    ... syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, ... syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, ...

  6. Optimal digital filtering for tremor suppression.

    Science.gov (United States)

    Gonzalez, J G; Heredia, E A; Rahman, T; Barner, K E; Arce, G R

    2000-05-01

    Remote manually operated tasks such as those found in teleoperation, virtual reality, or joystick-based computer access, require the generation of an intermediate electrical signal which is transmitted to the controlled subsystem (robot arm, virtual environment, or a cursor in a computer screen). When human movements are distorted, for instance, by tremor, performance can be improved by digitally filtering the intermediate signal before it reaches the controlled device. This paper introduces a novel tremor filtering framework in which digital equalizers are optimally designed through pursuit tracking task experiments. Due to inherent properties of the man-machine system, the design of tremor suppression equalizers presents two serious problems: 1) performance criteria leading to optimizations that minimize mean-squared error are not efficient for tremor elimination and 2) movement signals show ill-conditioned autocorrelation matrices, which often result in useless or unstable solutions. To address these problems, a new performance indicator in the context of tremor is introduced, and the optimal equalizer according to this new criterion is developed. Ill-conditioning of the autocorrelation matrix is overcome using a novel method which we call pulled-optimization. Experiments performed with artificially induced vibrations and a subject with Parkinson's disease show significant improvement in performance. Additional results, along with MATLAB source code of the algorithms, and a customizable demo for PC joysticks, are available on the Internet at http:¿tremor-suppression.com.

  7. Psychogenic Tremor: A Video Guide to Its Distinguishing Features

    Directory of Open Access Journals (Sweden)

    Joseph Jankovic

    2014-08-01

    Full Text Available Background: Psychogenic tremor is the most common psychogenic movement disorder. It has characteristic clinical features that can help distinguish it from other tremor disorders. There is no diagnostic gold standard and the diagnosis is based primarily on clinical history and examination. Despite proposed diagnostic criteria, the diagnosis of psychogenic tremor can be challenging. While there are numerous studies evaluating psychogenic tremor in the literature, there are no publications that provide a video/visual guide that demonstrate the clinical characteristics of psychogenic tremor. Educating clinicians about psychogenic tremor will hopefully lead to earlier diagnosis and treatment. Methods: We selected videos from the database at the Parkinson's Disease Center and Movement Disorders Clinic at Baylor College of Medicine that illustrate classic findings supporting the diagnosis of psychogenic tremor.Results: We include 10 clinical vignettes with accompanying videos that highlight characteristic clinical signs of psychogenic tremor including distractibility, variability, entrainability, suggestibility, and coherence.Discussion: Psychogenic tremor should be considered in the differential diagnosis of patients presenting with tremor, particularly if it is of abrupt onset, intermittent, variable and not congruous with organic tremor. The diagnosis of psychogenic tremor, however, should not be simply based on exclusion of organic tremor, such as essential, parkinsonian, or cerebellar tremor, but on positive criteria demonstrating characteristic features. Early recognition and management are critical for good long-term outcome.

  8. Linking Essential Tremor to the Cerebellum-Animal Model Evidence.

    Science.gov (United States)

    Handforth, Adrian

    2016-06-01

    In this review, we hope to stimulate interest in animal models as opportunities to understand tremor mechanisms within the cerebellar system. We begin by considering the harmaline model of essential tremor (ET), which has ET-like anatomy and pharmacology. Harmaline induces the inferior olive (IO) to burst fire rhythmically, recruiting rhythmic activity in Purkinje cells (PCs) and deep cerebellar nuclei (DCN). This model has fostered the IO hypothesis of ET, which postulates that factors that promote excess IO, and hence PC complex spike synchrony, also promote tremor. In contrast, the PC hypothesis postulates that partial PC cell loss underlies tremor of ET. We describe models in which chronic partial PC loss is associated with tremor, such as the Weaver mouse, and others with PC loss that do not show tremor, such as the Purkinje cell degeneration mouse. We postulate that partial PC loss with tremor is associated with terminal axonal sprouting. We then discuss tremor that occurs with large lesions of the cerebellum in primates. This tremor has variable frequency and is an ataxic tremor not related to ET. Another tremor type that is not likely related to ET is tremor in mice with mutations that cause prolonged synaptic GABA action. This tremor is probably due to mistiming within cerebellar circuitry. In the final section, we catalog tremor models involving neurotransmitter and ion channel perturbations. Some appear to be related to the IO hypothesis of ET, while in others tremor may be ataxic or due to mistiming. In summary, we offer a tentative framework for classifying animal action tremor, such that various models may be considered potentially relevant to ET, subscribing to IO or PC hypotheses, or not likely relevant, as with mistiming or ataxic tremor. Considerable further research is needed to elucidate the mechanisms of tremor in animal models.

  9. Tremor recording and analysis as a tool for target localisation in thalamotomy and DBS for tremor

    NARCIS (Netherlands)

    Journee, HL; Hamoen, DJ; Staal, MJ; Sclabassi, R; Haaxma, R; Elands, A; Hummel, JJJ; Boom, H; Robinson, C; Rutten, W; Neuman, M; Wijkstra, H

    1997-01-01

    The objective of this work was to design and use a tremor and analysis system for stereotactic thalamotomy and thalamus stimulation (DBS). A notebook PC based system was developed. The tremor was measured by accelero-transducers or EMG. The method was used to confirm the definitive localization of

  10. Distinguishing the Central Drive to Tremor in Parkinson's Disease and Essential Tremor

    Science.gov (United States)

    Brittain, John-Stuart; Cagnan, Hayriye; Mehta, Arpan R.; Saifee, Tabish A.; Edwards, Mark J.

    2015-01-01

    Parkinson's disease (PD) and essential tremor (ET) are the two most common movement disorders. Both have been associated with similar patterns of network activation leading to the suggestion that they may result from similar network dysfunction, specifically involving the cerebellum. Here, we demonstrate that parkinsonian tremors and ETs result from distinct patterns of interactions between neural oscillators. These patterns are reflected in the tremors' derived frequency tolerance, a novel measure readily attainable from bedside accelerometry. Frequency tolerance characterizes the temporal evolution of tremor by quantifying the range of frequencies over which the tremor may be considered stable. We found that patients with PD (N = 24) and ET (N = 21) were separable based on their frequency tolerance, with PD associated with a broad range of stable frequencies whereas ET displayed characteristics consistent with a more finely tuned oscillatory drive. Furthermore, tremor was selectively entrained by transcranial alternating current stimulation applied over cerebellum. Narrow frequency tolerances predicted stronger entrainment of tremor by stimulation, providing good evidence that the cerebellum plays an important role in pacing those tremors. The different patterns of frequency tolerance could be captured with a simple model based on a broadly coupled set of neural oscillators for PD, but a more finely tuned set of oscillators in ET. Together, these results reveal a potential organizational principle of the human motor system, whose disruption in PD and ET dictates how patients respond to empirical, and potentially therapeutic, interventions that interact with their underlying pathophysiology. PMID:25589772

  11. Kinetic Tremor: Differences Between Smokers and Non-smokers

    OpenAIRE

    Louis, Elan D.

    2006-01-01

    Tremor is among the acute effects of nicotine exposure. Published studies have focused on smoking-related postural (static) hand tremor rather than kinetic tremor (tremor during hand use), and gender differences in smoking-related tremor have not been examined. In a group of adults who were sampled from a population (mean ± SD = 65.7 ± 11.5 years, range = 18 - 92 years), the investigator assessed whether the severity of postural and kinetic tremors differed in smokers versus non-smokers, and ...

  12. Intention tremor after head injury

    International Nuclear Information System (INIS)

    Iwadate, Yasuo; Saeki, Naokatsu; Namba, Hiroki; Odaki, Masaru; Oka, Nobuo.

    1989-01-01

    Eight cases of intention tremor as a late complication of head injury were investigated. The patients ranged in age from 3 to 24 years. All received severe head injuries and lapsed into coma immediately afterward (Glasgow Coma Scale scores ≤8). Six patients exhibited decerebration or decortication. Hemiparesis was present in six cases and oculomotor nerve palsy in four. In the chronic stage, all patients displayed some degree of impairment of higher cortical function and five had dysarthria and/or ataxia. Initial computed tomography (CT) scans within 3 hours after the injury were obtained in five cases, of which four showed a hemorrhagic lesion in the midbrain or its surroundings. Other CT findings were diffuse cerebral swelling (four cases), intraventricular hemorrhage (three), and multiple hemorrhagic lesions (two). In the chronic stage, generalized cortical atrophy or ventricular enlargement was noted in five cases. These clinical features and CT findings indicate diffuse brain damage as well as midbrain damage and may reflect shearing injury. (author)

  13. Source mechanism of volcanic tremor

    Energy Technology Data Exchange (ETDEWEB)

    Ferrick, M.G.; Qamar, A.; St. Lawrence, W.F.

    1982-10-10

    Low-frequency (<10 Hz) volcanic earthquakes originate at a wide range of depths and occur before, during, and after magmatic eruptions. The characteristics of these earthquakes suggest that they are not typical tectonic events. Physically analogous processes occur in hydraulic fracturing of rock formations, low-frequency icequakes in temperate glaciers, and autoresonance in hydroelectric power stations. We propose that unsteady fluid flow in volcanic conduits is the common source mechanism of low-frequency volcanic earthquakes (tremor). The fluid dynamic source mechanism explains low-frequency earthquakes of arbitrary duration, magnitude, and depth of origin, as unsteady flow is independent of physical properties of the fluid and conduit. Fluid transients occur in both low-viscosity gases and high-viscosity liquids. A fluid transient analysis can be formulated as generally as is warranted by knowledge of the composition and physical properties of the fluid, material properties, geometry and roughness of the conduit, and boundary conditions. To demonstrate the analytical potential of the fluid dynamic theory, we consider a single-phase fluid, a melt of Mount Hood andesite at 1250/sup 0/C, in which significant pressure and velocity variations occur only in the longitudinal direction. Further simplification of the conservation of mass and momentum equations presents an eigenvalue problem that is solved to determine the natural frequencies and associated damping of flow and pressure oscillations.

  14. Aspectos incomuns da paracoccidioidomicose infantil

    Directory of Open Access Journals (Sweden)

    Achiléa Lisboa Bittencourt

    1987-12-01

    Full Text Available São relatados dois casos de paracoccidioidomicose (PCM infantil. Em um deles, a principal manifestação da doença foi tumoração abdominal, simulando linfoma maligno não Hodgkin. O outro apresentou acentuado envolvimento articular, com ruptura da cápsula. Representam o segundo e terceiro casos de PCM infantil observados na Bahia, ambos procedentes de áreas urbanas.The authors present two cases of infantil para-coccidioidomycosis. In one case the main presentation was an abdominal mass that mimicked non- Hodgkin lymphoma. In the other case the child had a joint swelling with rupture of the capsule and the clinical diagnosis was piogenic arthritis. They represent the second and third cases of infantile paracoccidioidomycosis observed in the state of Bahia, all coming from urban areas.

  15. La obesidad infantil /

    OpenAIRE

    Galea Barquero, Irene

    2013-01-01

    La obesidad infantil es la enfermedad de tipo nutricional que se da con más frecuencia en los niños de los países desarrollados, conlleva riesgos físicos y psicológicos y determinados estudios señalan que puede acortar la esperanza de vida en 13 años. En Castilla y León, la tasa de obesidad entre los niños en edad escolar es del 0,8%. La autora va a recoger datos y a realizar un estudio del desayuno que realizan estos niños por considerarlo la primera comida del día y la más importa...

  16. Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sarvi Sharifi

    2012-08-01

    Full Text Available Background: Over 60 Asian and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Cerebellar changes may be part of the syndrome. In this study, we report the neuropathology findings in a new Dutch familial cortical myoclonic tremor with epilepsy case and review the literature on this syndrome.Methods: Neuropathological investigations were performed for a third case of the Dutch pedigree. In addition, we searched the literature for pedigrees meeting the criteria for benign familial myoclonic tremor and epilepsy.Results: Our third Dutch case showed cerebellar Purkinje cell changes and a normal cerebral cortex. The pedigrees described show phenotypical differences, cerebellar symptoms and cerebellar atrophy to a variable degree. Japanese pedigrees with linkage to chromosome 8q have been reported with milder disease features than members of Italian pedigrees with linkage to chromosome 2p. French pedigrees (5p possibly show even more severe and progressive disease, including cognitive changes and cerebellar features.Discussion: Currently, familial cortical myoclonic tremor is not listed by the International League Against Epilepsy, although it can be differentiated from other epileptic syndromes. Genetic heterogeneity and phenotypical differences between pedigrees exist. Cerebellar changes seem to be part of the syndrome in at least a number of pedigrees.

  17. Essential Tremor (ET): Surgical Options

    Science.gov (United States)

    ... option for severe depression, epilepsy, Tourette’s syndrome, stroke, addiction, and dementia. Top Focused Ultrasound Thalamotomy The FDA ... ultrasound but in a very different way. This technology uses multiple beams of sound focused in on ...

  18. Botulinum Toxin in Management of Limb Tremor

    Directory of Open Access Journals (Sweden)

    Elina Zakin

    2017-11-01

    Full Text Available Essential tremor is characterized by persistent, usually bilateral and symmetric, postural or kinetic activation of agonist and antagonist muscles involving either the distal or proximal upper extremity. Quality of life is often affected and one’s ability to perform daily tasks becomes impaired. Oral therapies, including propranolol and primidone, can be effective in the management of essential tremor, although adverse effects can limit their use and about 50% of individuals lack response to oral pharmacotherapy. Locally administered botulinum toxin injection has become increasingly useful in the management of essential tremor. Targeting of select muscles with botulinum toxin is an area of active research, and muscle selection has important implications for toxin dosing and functional outcomes. The use of anatomical landmarks with palpation, EMG guidance, electrical stimulation, and ultrasound has been studied as a technique for muscle localization in toxin injection. Earlier studies implemented a standard protocol for the injection of (predominantly wrist flexors and extensors using palpation and EMG guidance. Targeting of muscles by selection of specific activators of tremor (tailored to each patient using kinematic analysis might allow for improvement in efficacy, including functional outcomes. It is this individualized muscle selection and toxin dosing (requiring injection within various sites of a single muscle that has allowed for success in the management of tremors.

  19. Ground-motion prediction from tremor

    Science.gov (United States)

    Baltay, Annemarie S.; Beroza, Gregory C.

    2013-01-01

    The widespread occurrence of tremor, coupled with its frequency content and location, provides an exceptional opportunity to test and improve strong ground-motion attenuation relations for subduction zones. We characterize the amplitude of thousands of individual 5 min tremor events in Cascadia during three episodic tremor and slip events to constrain the distance decay of peak ground acceleration (PGA) and peak ground velocity (PGV). We determine the anelastic attenuation parameter for ground-motion prediction equations (GMPEs) to a distance of 150 km, which is sufficient to place important constraints on ground-motion decay. Tremor PGA and PGV show a distance decay that is similar to subduction-zone-specific GMPEs developed from both data and simulations; however, the massive amount of data present in the tremor observations should allow us to refine distance-amplitude attenuation relationships for use in hazard maps, and to search for regional variations and intrasubduction zone differences in ground-motion attenuation.

  20. Essential Tremor (ET): Coping Tips for Everyday Living

    Science.gov (United States)

    ... Request that your meat be cut in the kitchen before being served. Consider ordering finger foods to ... Tremor IETF Accepting Proposals for Grants Relevant to Essential Tremor IETF Champion Home About the IETF Volunteer ...

  1. Pallidal Dysfunction Drives a Cerebellothalamic Circuit into Parkinson Tremor

    NARCIS (Netherlands)

    Helmich, R.C.G.; Janssen, M.J.R.; Oyen, W.J.G.; Bloem, B.R.; Toni, I.

    2011-01-01

    Objective: Parkinson disease (PD) is characterized by striatal dopamine depletion, which explains clinical symptoms such as bradykinesia and rigidity, but not resting tremor. Instead, resting tremor is associated with increased activity in a distinct cerebellothalamic circuit. To date, it remains

  2. Pallidal dysfunction drives a cerebellothalamic circuit into Parkinson tremor

    NARCIS (Netherlands)

    Helmich, R.C.G.; Janssen, M.J.; Oyen, W.J.G.; Bloem, B.R.; Toni, I.

    2011-01-01

    OBJECTIVE: Parkinson disease (PD) is characterized by striatal dopamine depletion, which explains clinical symptoms such as bradykinesia and rigidity, but not resting tremor. Instead, resting tremor is associated with increased activity in a distinct cerebellothalamic circuit. To date, it remains

  3. Essential Tremor vs. Parkinson's Disease: How Do They Differ?

    Science.gov (United States)

    Essential Tremor (ET) ET vs Parkinson’s disease How do they differ? The characteristics listed in the table below can help differentiate between parkinsonian and essential tremor, but a medical professional should be consulted for ...

  4. Bilateral cerebellar activation in unilaterally challenged essential tremor

    NARCIS (Netherlands)

    Broersma, Marja; van der Stouwe, Anna M. M.; Buijink, Arthur W. G.; de Jong, Bauke M.; Groot, Paul F. C.; Speelman, Johannes D.; Tijssen, Marina A. J.; van Rootselaar, Anne-Fleur; Maurits, Natasha M.

    2016-01-01

    Essential tremor (ET) is one of the most common hyperkinetic movement disorders. Previous research into the pathophysiology of ET suggested underlying cerebellar abnormalities. In this study, we added electromyography as an index of tremor intensity to functional Magnetic Resonance Imaging

  5. Peripheral beta-adrenergic blockade treatment of parkinsonian tremor.

    Science.gov (United States)

    Foster, N L; Newman, R P; LeWitt, P A; Gillespie, M M; Larsen, T A; Chase, T N

    1984-10-01

    The effect of nadolol, a peripherally acting beta-adrenergic blocker, on resting, postural, and intention tremor was examined in 8 patients with idiopathic Parkinson's disease whose motor symptoms, other than tremor, were well controlled with conventional medications. In a double-blind, placebo-controlled, crossover design, patients received 80 to 320 mg of nadolol for six weeks while continuing their previous therapeutic regimen. Accelerometer readings showed a 34% reduction (p less than 0.025) in tremor distance, but no change in tremor frequency, during nadolol therapy. Maximum benefit was achieved with a dose of 240 mg, when resting tremor improved 54%, postural tremor 32%, and intention tremor 54%. Physician ratings and patient reports supported the accelerometer results. Nadolol appears to be a safe, effective adjunct to current dopaminergic and anticholinergic therapy for severe tremor in Parkinson's disease.

  6. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

    Science.gov (United States)

    Hagerman, R J; Leehey, M; Heinrichs, W; Tassone, F; Wilson, R; Hills, J; Grigsby, J; Gage, B; Hagerman, P J

    2001-07-10

    The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. These individuals had elevated fragile X mental retardation 1 gene (FMR1) messenger RNA and normal or borderline levels of FMR1 protein. The authors propose that elevations of FMR1 messenger RNA may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR1 premutation.

  7. Tremor pattern differentiates drug-induced resting tremor from Parkinson disease.

    Science.gov (United States)

    Nisticò, R; Fratto, A; Vescio, B; Arabia, G; Sciacca, G; Morelli, M; Labate, A; Salsone, M; Novellino, F; Nicoletti, A; Petralia, A; Gambardella, A; Zappia, M; Quattrone, A

    2016-04-01

    DAT-SPECT, is a well-established procedure for distinguishing drug-induced parkinsonism from Parkinson's disease (PD). We investigated the usefulness of blink reflex recovery cycle (BRrc) and of electromyographic parameters of resting tremor for the differentiation of patients with drug-induced parkinsonism with resting tremor (rDIP) from those with resting tremor due to PD. This was a cross-sectional study. In 16 patients with rDIP and 18 patients with PD we analysed electrophysiological parameters (amplitude, duration, burst and pattern) of resting tremor. BRrc at interstimulus intervals (ISI) of 100, 150, 200, 300, 400, 500 and 750 msec was also analysed in patients with rDIP, patients with PD and healthy controls. All patients and controls underwent DAT-SPECT. Rest tremor amplitude was higher in PD patients than in rDIP patients (p tremor showed a synchronous pattern in all patients with rDIP, whereas it had an alternating pattern in all PD patients (p tremor can be considered a useful investigation for differentiating rDIP from PD. Copyright © 2016. Published by Elsevier Ltd.

  8. Dopamine controls Parkinson's tremor by inhibiting the cerebellar thalamus.

    Science.gov (United States)

    Dirkx, Michiel F; den Ouden, Hanneke E M; Aarts, Esther; Timmer, Monique H M; Bloem, Bastiaan R; Toni, Ivan; Helmich, Rick C

    2017-03-01

    Parkinson's resting tremor is related to altered cerebral activity in the basal ganglia and the cerebello-thalamo-cortical circuit. Although Parkinson's disease is characterized by dopamine depletion in the basal ganglia, the dopaminergic basis of resting tremor remains unclear: dopaminergic medication reduces tremor in some patients, but many patients have a dopamine-resistant tremor. Using pharmacological functional magnetic resonance imaging, we test how a dopaminergic intervention influences the cerebral circuit involved in Parkinson's tremor. From a sample of 40 patients with Parkinson's disease, we selected 15 patients with a clearly tremor-dominant phenotype. We compared tremor-related activity and effective connectivity (using combined electromyography-functional magnetic resonance imaging) on two occasions: ON and OFF dopaminergic medication. Building on a recently developed cerebral model of Parkinson's tremor, we tested the effect of dopamine on cerebral activity associated with the onset of tremor episodes (in the basal ganglia) and with tremor amplitude (in the cerebello-thalamo-cortical circuit). Dopaminergic medication reduced clinical resting tremor scores (mean 28%, range -12 to 68%). Furthermore, dopaminergic medication reduced tremor onset-related activity in the globus pallidus and tremor amplitude-related activity in the thalamic ventral intermediate nucleus. Network analyses using dynamic causal modelling showed that dopamine directly increased self-inhibition of the ventral intermediate nucleus, rather than indirectly influencing the cerebello-thalamo-cortical circuit through the basal ganglia. Crucially, the magnitude of thalamic self-inhibition predicted the clinical dopamine response of tremor. Dopamine reduces resting tremor by potentiating inhibitory mechanisms in a cerebellar nucleus of the thalamus (ventral intermediate nucleus). This suggests that altered dopaminergic projections to the cerebello-thalamo-cortical circuit have a role

  9. Tremor Source Location at Okmok Volcano

    Science.gov (United States)

    Reyes, C. G.; McNutt, S. R.

    2007-12-01

    Initial results using an amplitude-based tremor location program have located several active tremor episodes under Cone A, a vent within Okmok volcano's 10 km caldera. Okmok is an andesite volcano occupying the north-eastern half of Umnak Island, in the Aleutian islands. Okmok is defined by a ~2000 y.b.p. caldera that contains multiple cinder cones. Cone A, the youngest of these, extruded lava in 1997 covering the caldera floor. Since April 2003, continuous seismic data have been recorded from eight vertical short-period stations (L4-C's) installed at distances from Cone A ranging from 2 km to 31 km. In 2004 four additional 3- component broadband stations were added, co-located with continuous GPS stations. InSAR and GPS measurements of post-eruption deformation show that Okmok experienced several periods of rapid inflation (Mann and Freymueller, 2002), from the center of the 10 km diameter caldera. While there are few locatable VT earthquakes, there has been nearly continuous low-level tremor with stronger amplitude bursts occurring at variable rates and durations. The character of occurrence remained relatively constant over the course of days to weeks until the signal ceased in mid 2005. Within any day, tremor behavior remains fairly consistent, with bursts closely resembling each other, suggesting a single main process or source location. The tremor is composed of irregular waves with a broad range of frequencies, though most energy resides between ~2 Hz and 6 Hz. Attempts to locate the tremor using traditional arrival time methods fail because the signal is emergent, with envelopes too ragged to correlate on time scales that hold much hope for a location. Instead, focus was shifted to the amplitude ratios at various stations. Candidates for the tremor source include the center of inflation and Cone A, 3 km to the south-west. For all dates on record, data were band pass filtered between 1 and 5 Hz, then evaluated in 20.48 second windows (N=2048, sampling rate

  10. Tremor da escrita: relato de caso

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    Denise Hack Nicaretta

    1994-03-01

    Full Text Available O tremor da escrita é distúrbio precipitado por atividade motora específica, geralmente a escrita. Analisamos este caso sob o ponto de vista clínico e terapêutico. O paciente apresentava tremor ao escrever tomando sua letra ilegível; sem qualquer outra alteração neurológica. Não havia antecedentes familiares, metabólicos, endócrinos, iatrogênicos, tóxicos ou traumáticos. No manuseio terapêutico não ocorreu resposta satisfatória ao propranolol, sendo discreta à primidona. A introdução de anticolinérgicos (tri-hexifenidil evidenciou certa melhora na sintomatologia, com redução do tremor no momento da escrita.

  11. San Andreas tremor cascades define deep fault zone complexity

    Science.gov (United States)

    Shelly, David R.

    2015-01-01

    Weak seismic vibrations - tectonic tremor - can be used to delineate some plate boundary faults. Tremor on the deep San Andreas Fault, located at the boundary between the Pacific and North American plates, is thought to be a passive indicator of slow fault slip. San Andreas Fault tremor migrates at up to 30 m s-1, but the processes regulating tremor migration are unclear. Here I use a 12-year catalogue of more than 850,000 low-frequency earthquakes to systematically analyse the high-speed migration of tremor along the San Andreas Fault. I find that tremor migrates most effectively through regions of greatest tremor production and does not propagate through regions with gaps in tremor production. I interpret the rapid tremor migration as a self-regulating cascade of seismic ruptures along the fault, which implies that tremor may be an active, rather than passive participant in the slip propagation. I also identify an isolated group of tremor sources that are offset eastwards beneath the San Andreas Fault, possibly indicative of the interface between the Monterey Microplate, a hypothesized remnant of the subducted Farallon Plate, and the North American Plate. These observations illustrate a possible link between the central San Andreas Fault and tremor-producing subduction zones.

  12. Abnormal 201Tl limb scan due to unilateral tremor

    International Nuclear Information System (INIS)

    Simons, M.; Schelstraete, K.; Bratzlavsky, M.

    1982-01-01

    A abnormal intra- and interextremity distribution pattern on 201 Tl was observed on the limb scan of a patient with a unilateral tremor. This is ascribed to the increased blood flow in the muscles responsible for the tremor. The suggestion is made that the existence of tremor should be considered as a possible explanation for unexpected abnormalities on 201 Tl limb scintigrams

  13. Unilateral rubral tremors in Wilson′s disease treated with dimercaprol

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    Rahul T Chakor

    2015-01-01

    Full Text Available Tremors are reported as the most frequent neurological manifestation of Wilson′s disease (WD in some series. Postural tremors, rest tremors, action tremors and wing-beating (rubral tremors are the different types of tremors seen in WD. We report a patient of WD with unilateral rubral tremors refractory to 1-year therapy with Penicillamine and anti-tremor medications. The tremors decreased considerably after adding chelation therapy with dimercaprol. Combination of Penicillamine and dimercaprol is an effective decoppering measure in rubral tremors of WD.

  14. INFANTILISM: THEORETICAL CONSTRUCT AND OPERATIONALIZATION

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    Yelena V. Sabelnikova

    2016-01-01

    Full Text Available The aim of the presented research is to define and operationalize theoretically the concept of infantilism and its construct. The content of theoretical construct «infantilism» is analyzed. Methods. The methods of theoretical research involve analysis and synthesis. The age and content criteria are analysed in the context of childhood and adulthood. The traits which can be interpreted as adult infantile traits are described. Results. The characteristics of adult infantilism in modern world taking into account the increasing of information flows and socio-economic changes are defined. The definition of the concept «infantilism» including its main features is given. Infantilism is defined as the personal organization including features and models of the previous age period not adequate for the real age stage with emphasis on immaturity of the emotional and volitional sphere. Scientific novelty. The main psychological characteristics of adulthood are described as the reflection, requirement to work and professional activity, existence of professional self-determination, possession of labor skills, need for selfrealization, maturity of the emotional and volitional sphere. As objective adulthood characteristics are considered the following: transition to economic and territorial independence of a parental family, and also development of new social roles, such as a worker, spouse, and parent. Two options of a possible operationalization of concept are allocated: objective (existence / absence in real human life of objective criteria of adulthood and subjective (the self-report on subjective feeling of existence / lack of psychological characteristics of adulthood. Practical significance consists in a construct operationalization of «infantilism» which at the moment has so many interpretations. That operationalization is necessary for the further analysis and carrying out various researches. 

  15. Tuberculose infantil: estudo retrospectivo

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    Boaventura Antonio dos Santos

    2011-10-01

    Full Text Available Introdução: A tuberculose (TB infantil permanece como uma das doenças mais prevalentes e preocupantes no mundo, sobretudo em nações em desenvolvimento, onde as taxas são ainda mais elevadas e os casos descritos subestimados pela dificuldade em se estabelecer um diagnóstico definitivo. Dessa forma, este estudo tem como objetivo descrever o perfil clínico e epidemiológico dos pacientes com TB infantil pulmonar e extrapulmonar. Métodos: Foram avaliados retrospectivamente, através de questionário, pacientes com idade de até 15 anos, internados no Serviço de Pediatria do HCPA, no período de janeiro de 2002 a setembro de 2007.   Resultados: Dos 52 pacientes incluídos, 63% apresentavam TB pulmonar. Das formas extra-pulmonares, a meningoencefalite foi a mais prevalente (22%. Comorbidades foram dectadas em 31 (60% pacientes, dos quais 15 (29% apresentavam desnutrição grave, 9 (18% HIV positivo e 7 (13% pneumopatia crônica. Das manifestações clínicas, febre e tosse estavam presentes na maioria dos pacientes. O padrão radiológico predominante foi o de consolidação pulmonar (51%. A maioria dos pacientes referia história de contato com paciente bacilífero (64%. Conclusão: A TB pulmonar representa a principal forma de apresentação clínica da TB, sendo o diagnóstico feito de forma presuntiva na maioria dos casos. O diagnóstico baseado na comprovação bacteriológica foi obtido numa minoria de pacientes, demonstrando a importância dos achados clínico-laboratoriais, história epidemiológica e vacinal para o diagnóstico. Nesse sentido, a criação de escores tem se tornado uma ferramenta de fácil acesso e com razoável acurácia para auxiliar o diagnóstico de TB em serviços de baixa complexidade, especialmente o ambulatorial.

  16. Infantile osteopetrosis with superimposed rickets.

    Science.gov (United States)

    Gonen, Korcan Aysun; Yazici, Zeynep; Gokalp, Gokhan; Ucar, Ayse Kalyoncu

    2013-01-01

    Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important. To describe four children with infantile osteopetrosis complicated by rickets (osteopetrorickets) and review the relevant literature. Retrospective chart analysis of four infants with osteopetrorickets and a systematic review of the relevant literature. We saw five children with infantile osteopetrosis, of whom four had superimposed rickets, for a period of 12 years. The review of the literature (including the current four children), yielded 20 children with infantile osteopetrorickets. The children ranged in age from 2 months to 12 months. In all children, hepatosplenomegaly was found. Sixteen (80%) children had visual impairments and eight (40%) children had hearing impairments. Serum calcium-phosphorus product was less than 30 in 18 children (90%). Twelve children (60%) were hypocalcemic and 18 (90%) were hypophosphatemic. In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones. Five children (25%) had pathological fracture of extremities and 15 (75%) had rachitic rosary. Rickets as a complication to infantile osteopetrosis is not uncommon. Skeletal roentgenograms are of critical importance in the diagnosis of both osteopetrosis and superimposed rickets.

  17. Dramatic response to levetiracetam in post-ischaemic Holmes’ tremor

    Science.gov (United States)

    Striano, P; Elefante, Andrea; Coppola, Antonietta; Tortora, Fabio; Zara, Federico; Minetti, Carlo

    2009-01-01

    Holmes’ tremor refers to an unusual combination of rest, postural and kinetic tremor of extremities. Common causes of Holmes’ tremor include stroke, trauma, vascular malformations and multiple sclerosis, with lesions involving the thalamus, brain stem or cerebellum. Although some drugs (eg, levodopa and dopaminergic drugs, clonazepam and propranolol) have been occasionally reported to give some benefit, medical treatment of Holmes’ tremor is unsatisfactory, and many patients require thalamic surgery to achieve satisfactory control. We report a patient in whom post-ischaemic Holmes’ tremor dramatically responded to levetiracetam treatment. PMID:21686707

  18. Reversible infantile mitochondrial diseases.

    Science.gov (United States)

    Boczonadi, Veronika; Bansagi, Boglarka; Horvath, Rita

    2015-05-01

    Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. If these patients survive the first year of life by extensive life-sustaining measures they usually recover and develop normally. Another mitochondrial disease due to deficiency of the 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) causes severe liver failure in infancy, but similar to the reversible mitochondrial myopathy, within the first year of life these infants may also recover completely. Partial recovery has been noted in some other rare forms of mitochondrial disease due to deficiency of mitochondrial tRNA synthetases and mitochondrial tRNA modifying enzymes. Here we summarize the clinical presentation of these unique reversible mitochondrial diseases and discuss potential molecular mechanisms behind the reversibility. Understanding these mechanisms may provide the key to treatments of potential broader relevance in mitochondrial disease, where for the majority of the patients no effective treatment is currently available.

  19. Incorrecciones del habla infantil

    Directory of Open Access Journals (Sweden)

    María del Pino LECUONA NARANJO

    2009-11-01

    Full Text Available En el presente trabajo se pretende dar una visión de algunos rasgos característicos del lenguaje infantil, centrándonos especialmente en el estudio de los niños de 4 a 6 años de edad. Es pues, su finalidad fundamental la descripción y análisis de los rasgos que se pueden observar en la expresión verbal de los preescolares. Las diversas peculiaridades que van a ser objeto de examen se refieren a la emisión de incorrecciones de carácter fonético, morfológico y semántico. El análisis unificado de estos tres factores responde a la consideración de que todos surgen como consecuencia de un proceso de simplificación lingüística originado por un estado inconcluso de desarrollo del lenguaje.

  20. NUESTRA PORTADA Juegos infantiles

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    Ramon Balius i Juli

    2008-09-01

    Full Text Available En Nuestra Portada se muestra un fragmento de la obra Juegos Infantiles (Kinderspelen, original del pintor flamenco Pieter Bruegel el Viejo. Pieter Bruegel ha sido un artista de valoración tardía. No fue hasta principios del siglo xx que la grandeza de su arte mereció el reconocimiento de los críticos. Sorprendentemente es prácticamente desconocido en su etapa de formación, porque únicamente existe una corta descripción biográfica publicada en 1604 por Van Manden. En esta bibliografía, Bruegel era presentado como un ignorante dedicado a la pintura cómica y campestre. Según Van Manden, había nacido en Bruegel, un pueblo cercano a Breda, del cual tomó el apellido. Esta afirmación es falsa, porque parece probado que lo había heredado de su padre. La realidad es, como señala en 1567 Ludovic Guicciardini, que “Pietro Brueghel de Breda es un gran imitador de la ciencia y de la fantasía de Hieronymus Bosco”. El año de nacimiento es incierto y se sitúa entre 1525 y 1530.

  1. Ambient Tremor, But No Triggered Tremor at the Northern Costa Rica Subduction Zone

    Science.gov (United States)

    Swiecki, Z.; Schwartz, S. Y.

    2010-12-01

    Non-volcanic tremor (NVT) has been found to be triggered during the passage of surface waves from various teleseismic events in locations around the world including Cascadia, Southwest Japan, Taiwan, and California. In this study we examine the northern Costa Rica subduction zone for evidence of triggered tremor. The Nicoya Peninsula segment of the northern Costa Rica margin experiences both slow-slip and tremor and is thus a prime candidate for triggered tremor observations. Eleven teleseismic events with magnitudes (Mw) greater than 8 occurring between 2006 and 2010 were examined using data from both broadband and short period sensors deployed on the Nicoya Peninsula, Costa Rica. Waveforms from several large regional events were also considered. The largest teleseismic and regional events (27 February 2010 Chile, Mw 8.8 and 28 May 2009 Honduras, Mw 7.3) induced peak ground velocities (PGV) at the NIcoya stations of ~2 and 6 mm/s, respectively; larger than PGVs in other locations that have triggered tremor. Many of the earthquakes examined occurred during small episodes of background ambient tremor. In spite of this, no triggered tremor was observed during the passage of seismic waves from any event. This is significant because other studies have demonstrated that NVT is not triggered everywhere by all events above some threshold magnitude, indicating that unique conditions are required for its occurrence. The lack of triggered tremor at the Costa Rica margin can help to better quantify the requisite conditions and triggering mechanisms. An inherent difference between the Costa Rica margin and the other subduction zones where triggered tremor exists is its erosional rather than accretionary nature. Its relatively low sediment supply likely results in a drier, lower pore fluid pressure, stronger and less compliant thrust interface that is less receptive to triggering tremor from external stresses generated by teleseismic or strong local earthquakes. Another

  2. Disorders of balance and gait in essential tremor are associated with midline tremor and age.

    Science.gov (United States)

    Hoskovcová, Martina; Ulmanová, Olga; Sprdlík, Otakar; Sieger, Tomáš; Nováková, Jana; Jech, Robert; Růžička, Evžen

    2013-02-01

    Disorders of balance and gait have been observed in patients with essential tremor (ET), but their association with tremor severity remains unclear. This study aimed to evaluate postural instability and gait changes in ET patients and to investigate their relationship to tremor characteristics with regard to cerebellar dysfunction as a possible common pathogenetic mechanism in ET. Thirty ET patients (8F, mean (SD) age 55.8 (17.8), range 19-81 years) and 25 normal controls (7F, 53.0 (17.7), 19-81) were tested with the scales of Activities-specific Balance Confidence (ABC), Fullerton Advanced Balance (FAB), and International Cooperative Ataxia Rating Scale (ICARS). Posturography and gait were assessed using a Footscan® system. Tremor was evaluated by the Fahn-Tolosa-Marin Tremor Rating Scale (TRS) and accelerometry in five upper limb positions. A mean (SD) TRS sum score of 27.0 (13.2) corresponded to mild to moderate tremor severity in most patients. In comparison with controls, ET subjects exhibited lower tandem gait velocity (0.21 vs. 0.26 m/s, P = 0.028), more missteps (0.57 vs. 0.12, P = 0.039), and increased postural sway in tandem stance (sway area 301.1 vs. 202.9 mm(2), P = 0.045). In normal gait, step width increased with the midline tremor subscore of TRS (Pearson r = 0.60, P = 0.046). Moreover, significant correlations were found between age and quantitative measures of normal and tandem gait in ET patients but not in controls. ABC, FAB, and ICARS scores did not significantly differ between patients and controls. In conclusion, gait and balance alterations in ET patients occur even without subjective complaints. Their relationship with midline tremor and dependence on age suggest a connection with cerebellar dysfunction.

  3. Differences in striatal dopamine transporter density between tremor dominant and non-tremor Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Kaasinen, Valtteri; Kinos, Maija; Joutsa, Juho [University of Turku and Turku University Hospital, Division of Clinical Neurosciences, Turku (Finland); University of Turku and Turku University Hospital, Turku PET Centre, Turku (Finland); Seppaenen, Marko [University of Turku and Turku University Hospital, Turku PET Centre, Turku (Finland); University of Turku and Turku University Hospital, Department of Clinical Physiology and Nuclear Medicine, Turku (Finland); Noponen, Tommi [University of Turku and Turku University Hospital, Department of Clinical Physiology and Nuclear Medicine, Turku (Finland)

    2014-10-15

    Parkinson's disease (PD) can manifest with a tremor-dominant or a non-tremor (akinetic-rigid) phenotype. Although the tremor-dominant subtype may show a better prognosis, there is limited information on the phenotypic differences regarding the level of striatal dopamine transmission. The present study investigated striatal dopamine transporter (DAT) binding characteristics in a large sample of patients with and without tremor. [{sup 123}I]FP-CIT SPECT scans of 231 patients with a clinical diagnosis of PD and abnormal FP-CIT binding (157 with tremor, 74 without tremor) and 230 control patients with normal FP-CIT binding (148 with tremor, 82 without tremor) were analysed using an automated region-of-interest analysis of the scans (BRASS). Specific striatal binding ratios were compared between phenotypes and groups using age, sex, and symptom duration, predominant side of symptoms, dopaminergic medications and scanner as covariates. Patients with PD had 28.1 - 65.0 % lower binding in all striatal regions compared to controls (p < 0.001). The mean FP-CIT caudate nucleus uptake and the left caudate nucleus uptake were higher in PD patients with tremor than in PD patients without tremor (mean 9.0 % higher, left 10.5 % higher; p < 0.05), whereas there were no differences between tremor and non-tremor control patients. No significant effects of tremor on DAT binding were observed in the anterior or posterior putamen. The motor phenotype is associated with the extent of caudate dopamine terminal loss in PD, as dopamine function is relatively more preserved in tremor patients. Symptom type is related to caudate dopamine function only in association with Parkinsonian dopaminergic degeneration, not in intact dopamine systems in patients with non-PD tremor. (orig.)

  4. Rhythmic finger tapping reveals cerebellar dysfunction in essential tremor.

    Science.gov (United States)

    Buijink, A W G; Broersma, M; van der Stouwe, A M M; van Wingen, G A; Groot, P F C; Speelman, J D; Maurits, N M; van Rootselaar, A F

    2015-04-01

    Cerebellar circuits are hypothesized to play a central role in the pathogenesis of essential tremor. Rhythmic finger tapping is known to strongly engage the cerebellar motor circuitry. We characterize cerebellar and, more specifically, dentate nucleus function, and neural correlates of cerebellar output in essential tremor during rhythmic finger tapping employing functional MRI. Thirty-one propranolol-sensitive essential tremor patients with upper limb tremor and 29 healthy controls were measured. T2*-weighted EPI sequences were acquired. The task consisted of alternating rest and finger tapping blocks. A whole-brain and region-of-interest analysis was performed, the latter focusing on the cerebellar cortex, dentate nucleus and inferior olive nucleus. Activations were also related to tremor severity. In patients, dentate activation correlated positively with tremor severity as measured by the tremor rating scale part A. Patients had reduced activation in widespread cerebellar cortical regions, and additionally in the inferior olive nucleus, and parietal and frontal cortex, compared to controls. The increase in dentate activation with tremor severity supports involvement of the dentate nucleus in essential tremor. Cortical and cerebellar changes during a motor timing task in essential tremor might point to widespread changes in cerebellar output in essential tremor. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Essential Tremor: What We Can Learn from Current Pharmacotherapy

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    William Ondo

    2016-03-01

    Full Text Available Background: The pathophysiology of essential tremor, especially at the cellular level, is poorly understood. Although no drug has been specifically designed to treat essential tremor, several medications improve tremor, and others worsen it. Studying the mechanism of actions of these medications can help our understanding of tremor pathophysiology and contribute to future rational drug design. Methods: We reviewed literature, concentrating on mechanisms of action, of various medications that mitigate tremor. Results: Many medications have multiple mechanisms of actions, making simple correlations difficult. Medications that increase the duration of opening of gamma-aminobutyric acid (GABA-A receptors are most consistently associated with tremor improvement. Interestingly, drugs that increase GABA availability have not been associated with improved tremor. Other mechanisms possibly associated with tremor improvement include antagonism of alpha-2 delta subunits associated with calcium channels, inhibition of carbonic anhydrase, and inhibition of the synaptic vesicle protein 2A. Drugs that block voltage-gaited sodium channels do not affect tremor. The ideal beta-adrenergic blocker requires B2 affinity (non-cardiac selective, has no sympathomimetic properties, does not require membrane stabilization properties, and may benefit from good central nervous system penetration. Discussion: To date, serendipitous observations have provided most of our understanding of tremor cellular physiology. Based on similarities to currently effective drugs or rational approximations and inferences, several currently available agents should be considered for tremor trials.

  6. Essential Tremor: What We Can Learn from Current Pharmacotherapy.

    Science.gov (United States)

    Ondo, William

    2016-01-01

    The pathophysiology of essential tremor, especially at the cellular level, is poorly understood. Although no drug has been specifically designed to treat essential tremor, several medications improve tremor, and others worsen it. Studying the mechanism of actions of these medications can help our understanding of tremor pathophysiology and contribute to future rational drug design. We reviewed literature, concentrating on mechanisms of action, of various medications that mitigate tremor. Many medications have multiple mechanisms of actions, making simple correlations difficult. Medications that increase the duration of opening of gamma-aminobutyric acid (GABA)-A receptors are most consistently associated with tremor improvement. Interestingly, drugs that increase GABA availability have not been associated with improved tremor. Other mechanisms possibly associated with tremor improvement include antagonism of alpha-2 delta subunits associated with calcium channels, inhibition of carbonic anhydrase, and inhibition of the synaptic vesicle protein 2A. Drugs that block voltage-gaited sodium channels do not affect tremor. The ideal beta-adrenergic blocker requires B2 affinity (non-cardiac selective), has no sympathomimetic properties, does not require membrane stabilization properties, and may benefit from good central nervous system penetration. To date, serendipitous observations have provided most of our understanding of tremor cellular physiology. Based on similarities to currently effective drugs or rational approximations and inferences, several currently available agents should be considered for tremor trials.

  7. Treatment of resting tremor by beta-adrenergic blockade.

    Science.gov (United States)

    Foster, N L; Newman, R P; LeWitt, P A; Gillespie, M M; Chase, T N

    1984-10-01

    The effect of nadolol, a peripherally acting beta-adrenergic blocker, on resting tremor was examined in eight patients with idiopathic Parkinson's disease. With the use of a double-blind, placebo-controlled study of crossover design, patients received 80 to 320 mg of nadolol for 6 weeks while continuing their previous treatment regimen. Accelerometer readings showed a progressive reduction in tremor amplitude, but no change in tremor frequency, with increasing nadolol dosage. Maximum benefit was achieved at 240 mg, when resting tremor improved 50% (p less than 0.01). Physician ratings confirmed these findings. The results suggest that response to beta-adrenergic blockade may not be limited to postural or intention tremor and that such agents may not reliably differentiate between the tremor of Parkinson's disease and essential tremor.

  8. De fysiologische tremor van de hand

    NARCIS (Netherlands)

    Weerden, Tiemen Willem van

    1989-01-01

    Bij het innemen van een houding, zoals het willekeurig horizontaal gestrekt houden van de hand, vertoont het betrokken lichaamsdeel kleine fluctuaties in positie: de fysiologische tremor. Het doel van het proefschrift is, naast een beschrijving van het fenomeen, inzicht te geven in de oorzakelijke

  9. Differential effects of alpha-adrenoceptor blockade on essential, physiological and isoprenaline-induced tremor: evidence for a central origin of essential tremor.

    OpenAIRE

    Abila, B; Wilson, J F; Marshall, R W; Richens, A

    1985-01-01

    Intravenous thymoxamine reduced the power of essential tremor but increased that of physiological and isoprenaline-induced tremor. These findings indicate that essential and physiological tremor have dissimilar pathophysiological mechanisms. They also suggest that central adrenergic mechanisms are involved in the pathophysiology of essential tremor and that isoprenaline-induced tremor is not a good model of essential tremor. Furthermore, alpha-adrenoceptor blockers may be a useful therapy for...

  10. Organizando el aula infantil

    Directory of Open Access Journals (Sweden)

    María Luisa GARCÍA RODRÍGUEZ

    2009-11-01

    Full Text Available RESUMEN: La organización del aula es una importante "herramienta" en manos de la educadora o el educador, especialmente en las primeras edades. En consecuencia, es necesario poner todo el cuidado y atención posibles para conseguir un ambiente, a la vez agradable y práctico, que favorezca la vida y el aprendizaje de los niños y niñas de cero a seis años. Al principio de cada curso escolar se planificarán los aspectos físicos del aula, se organizarán los materiales y se distribuirá el tiempo. Para ello, deberán ser tenidas en cuenta las necesidades infantiles y los ámbitos madurativos en los que cada niña y cada niño deben progresar.ABSTRACT: The organization of the classroom is an important "tool" in the hands of the educator, especially during the early years. Consequently, it is necessary to take great care and give as much attention as possible to achieving an environment which is both pleasant and practical, as well as favourable to the lives and learning of children under six years of age. At the beginning of the school year the physical aspects of the classroom will be planned, the material organized and time distributed. For this purpose, the needs of the children, and the areas in which each child should advance and mature, must be taken into account.

  11. Hiperostosis cortical infantil

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    Salvador Javier Santos Medina

    2015-04-01

    Full Text Available La enfermedad de Caffey, o hiperostosis cortical infantil, es una rara enfermedad ósea autolimitada, que aparece de preferencia en lactantes con signos inespecíficos sistémicos; el más relevante es la reacción subperióstica e hiperostosis en varios huesos del cuerpo, con predilección en el 75-80 % de los casos por la mandíbula. Su pronóstico es bueno, la mayoría no deja secuelas. El propósito del presente trabajo es describir las características clínicas, presentes en un lactante de cinco meses de edad, atendido en el Hospital Pediátrico Provincial “Mártires de Las Tunas” con este diagnóstico, quien ingresó en el servicio de miscelánea B por una celulitis facial. Presentaba aumento de volumen en la región geniana izquierda, febrícola e inapetencia. Se impuso tratamiento con cefazolina y se egresó a los siete días. Acudió nuevamente con tumefacción blanda y difusa de ambas hemicaras, irritabilidad y fiebre. Se interconsultó con cirugía maxilofacial, se indicaron estudios sanguíneos y radiológicos. Se diagnosticó como enfermedad de Caffey, basado en la edad del niño, tumefacción facial sin signos inflamatorios agudos e hiperostosis en ambas corticales mandibulares a la radiografía AP mandíbula; unido a anemia ligera, leucocitosis y eritrosedimentación acelerada. El paciente se trató sintomáticamente y con antinflamatorios no esteroideos. Esta rara entidad se debe tener presente en casos de niños y lactantes con irritabilidad y fiebre inespecífica

  12. Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

    Science.gov (United States)

    Nicastro, Nicolas; Ranza, Emmanuelle; Antonarakis, Stylianos E; Horvath, Judit

    2016-12-01

    Progressive ataxia with palatal tremor (PAPT) is a syndrome caused by cerebellar and brainstem lesions involving the dentato-rubro-olivary tract and associated with hypertrophic olivary degeneration. Etiologies include acquired posterior fossa lesions (e.g. tumors, superficial siderosis, and inflammatory diseases) and genetic disorders, such as glial fibrillary acidic protein (GFAP) and polymerase gamma (POLG) mutations. We describe the case of a 52-year-old man who developed pure progressive ataxia and palatal tremor. Genetic analysis has shown that he is compound heterozygote for a known pathogenic (W748S) and a novel POLG variant (I1185N). Patients with POLG recessive mutations usually manifest a more complex clinical picture, including polyneuropathy and epilepsy; our case emphasizes the need to consider a genetic origin in a seemingly sporadic and pure PAPT.

  13. Cerebral causes and consequences of parkinsonian resting tremor: a tale of two circuits?

    NARCIS (Netherlands)

    Helmich, R.C.G.; Hallett, M.; Deuschl, G.; Toni, I.; Bloem, B.R.

    2012-01-01

    Tremor in Parkinson's disease has several mysterious features. Clinically, tremor is seen in only three out of four patients with Parkinson's disease, and tremor-dominant patients generally follow a more benign disease course than non-tremor patients. Pathophysiologically, tremor is linked to

  14. Cerebral causes and consequences of parkinsonian resting tremor: A tale of two circuits?

    NARCIS (Netherlands)

    Helmich, R.C.G.; Hallett, M.; Deuschl, G.; Toni, I.; Bloem, B.R.

    2012-01-01

    Tremor in Parkinson's disease has several mysterious features. Clinically, tremor is seen in only three out of four patients with Parkinson's disease, and tremor-dominant patients generally follow a more benign disease course than non-tremor patients. Pathophysiologically, tremor is linked to

  15. [The use of neuromodulation for the treatment of tremor].

    Science.gov (United States)

    Bendersky, Damián; Ajler, Pablo; Yampolsky, Claudio

    2014-01-01

    Tremor may be a disabling disorder and pharmacologic treatment is the first-line therapy for these patients. Nevertheless, this treatment may lead to a satisfactory tremor reduction in only 50% of patients with essential tremor. Thalamotomy was the treatment of choice for tremor refractory to medical therapy until deep brain stimulation (DBS) of the ventral intermedius nucleus (Vim) of the thalamus has started being used. Nowadays, thalamotomy is rarely performed. This article is a non-systematic review of the indications, results, programming parameters and surgical technique of DBS of the Vim for the treatment of tremor. In spite of the fact that it is possible to achieve similar clinical results using thalamotomy or DBS of the Vim, the former causes more adverse effects than the latter. Furthermore, DBS can be used bilaterally, whereas thalamotomy has a high risk of causing disartria when it is performed in both sides. DBS of the Vim achieved an adequate tremor improvement in several series of patients with tremor caused by essential tremor, Parkinson's disease or multiple sclerosis. Besides the Vim, there are other targets, which are being used by some authors, such as the zona incerta and the prelemniscal radiations. DBS of the Vim is a useful treatment for disabling tremor refractory to medical therapy. It is essential to carry out an accurate patient selection as well as to use a proper surgical technique. The best stereotactic target for tremor is still unknown, although the Vim is the most used one.

  16. [Spanish consensus on infantile haemangioma].

    Science.gov (United States)

    Baselga Torres, Eulalia; Bernabéu Wittel, José; van Esso Arbolave, Diego L; Febrer Bosch, María Isabel; Carrasco Sanz, Ángel; de Lucas Laguna, Raúl; Del Pozo Losada, Jesús; Hernández Martín, Ángela; Jiménez Montañés, Lorenzo; López Gutiérrez, Juan Carlos; Martín-Santiago, Ana; Redondo Bellón, Pedro; Ruíz-Canela Cáceres, Juan; Torrelo Fernández, Antonio; Vera Casaño, Ángel; Vicente Villa, María Asunción

    2016-11-01

    Infantile haemangiomas are benign tumours produced by the proliferation of endothelial cells of blood vessels, with a high incidence in children under the age of one year (4-10%). It is estimated that 12% of them require treatment. This treatment must be administered according to clinical practice guidelines, expert experience, patient characteristics and parent preferences. The consensus process was performed by using scientific evidence on the diagnosis and treatment of infantile haemangiomas, culled from a systematic review of the literature, together with specialist expert opinions. The recommendations issued were validated by the specialists, who also provided their level of agreement. This document contains recommendations on the classification, associations, complications, diagnosis, treatment, and follow-up of patients with infantile haemangioma. It also includes action algorithms, and addresses multidisciplinary management and referral criteria between the different specialities involved in the clinical management of this type of patient. The recommendations and the diagnostic and therapeutic algorithms of infantile haemangiomas contained in this document are a useful tool for the proper management of these patients. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  17. Infantile nystagmus and visual deprivation

    DEFF Research Database (Denmark)

    Fledelius, Hans C; Jensen, Hanne

    2014-01-01

    PURPOSE: To evaluate whether effects of early foveal motor instability due to infantile nystagmus might compare to those of experimental visual deprivation on refraction in a childhood series. METHODS: This was a retrospective analysis of data from the Danish Register for Blind and Weaksighted Ch...

  18. Manipulative therapies for infantile colic

    NARCIS (Netherlands)

    Dobson, D.; Lucassen, P.L.; Miller, J.J.; Vlieger, A.M.; Prescott, P.; Lewith, G.

    2012-01-01

    BACKGROUND: Infantile colic is a common disorder, affecting around one in six families, and in 2001 was reported to cost the UK National Health Service in excess of pound65 million per year (Morris 2001). Although it usually remits by six months of age, there is some evidence of longer-term sequelae

  19. Is Slow Slip a Cause or a Result of Tremor?

    Science.gov (United States)

    Luo, Y.; Ampuero, J. P.

    2017-12-01

    While various modeling efforts have been conducted to reproduce subsets of observations of tremor and slow-slip events (SSE), a fundamental but yet unanswered question is whether slow slip is a cause or a result of tremor. Tremor is commonly regarded as driven by SSE. This view is mainly based on observations of SSE without detected tremors and on (frequency-limited) estimates of total tremor seismic moment being lower than 1% of their concomitant SSE moment. In previous studies we showed that models of heterogeneous faults, composed of seismic asperities embedded in an aseismic fault zone matrix, reproduce quantitatively the hierarchical patterns of tremor migration observed in Cascadia and Shikoku. To address the title question, we design two end-member models of a heterogeneous fault. In the SSE-driven-tremor model, slow slip events are spontaneously generated by the matrix (even in the absence of seismic asperities) and drive tremor. In the Tremor-driven-SSE model the matrix is stable (it slips steadily in the absence of asperities) and slow slip events result from the collective behavior of tremor asperities interacting via transient creep (local afterslip fronts). We study these two end-member models through 2D quasi-dynamic multi-cycle simulations of faults governed by rate-and-state friction with heterogeneous frictional properties and effective normal stress, using the earthquake simulation software QDYN (https://zenodo.org/record/322459). We find that both models reproduce first-order observations of SSE and tremor and have very low seismic to aseismic moment ratio. However, the Tremor-driven-SSE model assumes a simpler rheology than the SSE-driven-tremor model and matches key observations better and without fine tuning, including the ratio of propagation speeds of forward SSE and rapid tremor reversals and the decay of inter-event times of Low Frequency Earthquakes. These modeling results indicate that, in contrast to a common view, SSE could be a result

  20. Compare Of the West Syndrome with Other Syndromes in the Epileptic Encephalopathy - Kosovo Experience

    OpenAIRE

    Zeka, Naim; Gërguri, Abdurrahim; Bejiqi, Ramush; Retkoceri, Ragip; Vuciterna, Armend

    2017-01-01

    BACKGROUND: West Syndrome (WS) represents as a specific epileptic encephalopathy characterised with a unique type of attacks, called infantile spasms, severe forms of abnormalities in electroencephalographic (EEG) records as a hypsarythmias and delays in the psychomotoric development. The characteristics of the disease, mostly affecting male gender, are infantile spasms and typical findings in EEG as a hypsarythmia. Infantile spasms are a consequence of many factors in the undeveloped brain. ...

  1. Brittle and ductile friction and the physics of tectonic tremor

    Science.gov (United States)

    Daub, Eric G.; Shelly, David R.; Guyer, Robert A.; Johnson, P.A.

    2011-01-01

    Observations of nonvolcanic tremor provide a unique window into the mechanisms of deformation and failure in the lower crust. At increasing depths, rock deformation gradually transitions from brittle, where earthquakes occur, to ductile, with tremor occurring in the transitional region. The physics of deformation in the transition region remain poorly constrained, limiting our basic understanding of tremor and its relation to earthquakes. We combine field and laboratory observations with a physical friction model comprised of brittle and ductile components, and use the model to provide constraints on the friction and stress state in the lower crust. A phase diagram is constructed that characterizes under what conditions all faulting behaviors occur, including earthquakes, tremor, silent transient slip, and steady sliding. Our results show that tremor occurs over a range of ductile and brittle frictional strengths, and advances our understanding of the physical conditions at which tremor and earthquakes take place.

  2. Accuracy of forecast of mine tremors location

    Energy Technology Data Exchange (ETDEWEB)

    Jan Drzewieck [Central Mining Institute, Katowice (Poland)

    2009-09-15

    The Upper Silesian Coal Basin is one of the most active mining areas in the world in respect of seismicity. Underground mining in this area takes place in a special environment with a high degree of risk of unpredictable event occurrence. Especially dangerous are phenomena that occur during the extraction of deposits at great depths in the environment of compact rocks. Deep underground mining violates the balance of these rocks and induces dynamic phenomena at the longwall life (in terms of distance) referred to as mine tremors. The sources of these tremors are located in layers characterised by high strength, especially in thick sandstone strata occurring in the roof of the mined seam. In the paper a discussion is presented about the influence of mining intensity (longwall face speed) on the location of mine tremor sources, both in the direction of longwall life (in terms of distance) and towards the surface. The presented material has been prepared based on the results of tests and measurements carried out at the Central Mining Institute. 8 refs., 5 figs.

  3. Temporal Variation of Tectonic Tremor Activity Associated with Nearby Earthquakes

    Science.gov (United States)

    Chao, K.; Van der Lee, S.; Hsu, Y. J.; Pu, H. C.

    2017-12-01

    Tectonic tremor and slow slip events, located downdip from the seismogenic zone, hold the key to recurring patterns of typical earthquakes. Several findings of slow aseismic slip during the prenucletion processes of nearby earthquakes have provided new insight into the study of stress transform of slow earthquakes in fault zones prior to megathrust earthquakes. However, how tectonic tremor is associated with the occurrence of nearby earthquakes remains unclear. To enhance our understanding of the stress interaction between tremor and earthquakes, we developed an algorithm for the automatic detection and location of tectonic tremor in the collisional tectonic environment in Taiwan. Our analysis of a three-year data set indicates a short-term increase in the tremor rate starting at 19 days before the 2010 ML6.4 Jiashian main shock (Chao et al., JGR, 2017). Around the time when the tremor rate began to rise, one GPS station recorded a flip in its direction of motion. We hypothesize that tremor is driven by a slow-slip event that preceded the occurrence of the shallower nearby main shock, even though the inferred slip is too small to be observed by all GPS stations. To better quantify what the necessary condition for tremor to response to nearby earthquakes is, we obtained a 13-year ambient tremor catalog from 2004 to 2016 in the same region. We examine the spatiotemporal relationship between tremor and 37 ML>=5.0 (seven events with ML>=6.0) nearby earthquakes located within 0.5 degrees to the active tremor sources. The findings from this study can enhance our understanding of the interaction among tremor, slow slip, and nearby earthquakes in the high seismic hazard regions.

  4. Serotonergic modulation of nicotine-induced kinetic tremor in mice

    Directory of Open Access Journals (Sweden)

    Naofumi Kunisawa

    2017-06-01

    Full Text Available We previously demonstrated that nicotine elicited kinetic tremor by elevating the neural activity of the inferior olive via α7 nicotinic acetylcholine (nACh receptors. Since α7 nACh receptors reportedly facilitate synaptic monoamine release, we explored the role of 5-HT receptors in induction and/or modulation of nicotine tremor. Treatment of mice with nicotine induced kinetic tremor that normally appeared during movement. The 5-HT1A agonist, 8-hydroxydipropylaminotetraline (8-OH-DPAT, significantly enhanced nicotine-induced tremor and the action of 8-OH-DPAT was antagonized by WAY-100135 (5-HT1A antagonist. In addition, the cerebral 5-HT depletion by repeated treatment with p-chlorophenylalanine did not reduce, but rather potentiated the facilitatory effects of 8-OH-DPAT. In contrast, the 5-HT2 agonist, 2,5-dimethoxy-4-iodoamphetamine (DOI, significantly attenuated nicotine tremor, which was antagonized by ritanserin (5-HT2 antagonist. The 5-HT3 agonist SR-57227 did not affect nicotine-induced tremor. Furthermore, when testing the direct actions of 5-HT antagonists, nicotine tremor was inhibited by WAY-100135, but was unaffected by ritanserin, ondansetron (5-HT3 antagonist or SB-258585 (5-HT6 antagonist. These results suggest that postsynaptic 5-HT1A receptors are involved in induction of nicotine tremor mediated by α7 nACh receptors. In addition, 5-HT2 receptors have an inhibitory modulatory role in induction of nicotine tremor.

  5. Síndrome de Down: visión y perspectiva desde el contexto familiar en el círculo infantil especial Down syndrome: vision and perspective from the family context in the special day care centre

    Directory of Open Access Journals (Sweden)

    Eloy J Pineda Pérez

    2008-06-01

    Full Text Available INTRODUCCIÓN: el síndrome de Down, enfermedad genética por aberración cromosómica, aunque sigue constituyendo un problema de salud y con gran repercusión social y familiar, mantiene buena dosis de desinformación por parte de la familia de elementos importantes, y diferentes criterios acerca de las posibilidades y logros en estos niños. OBJETIVO: constatar el conocimiento que tienen los padres y las madres sobre la evolución y posibilidades futuras de los niños portadores de esta enfermedad genética, las dificultades del desarrollo neuro-psicomotor y los diferentes tipos de minusvalía. MÉTODOS: se realizó una investigación cuasiexperimental de intervención con diseño de estudio antes-después con grupo control no equivalente en el Círculo Infantil Especial "Zunzún", del municipio Playa, Ciudad de La Habana, desde marzo a junio del año 2007. El universo lo constituyeron todas las madres o padres de los niños síndrome Down matriculados en la institución señalada. La muestra fueron todas las madres o padres de los niños del universo. Lo constituyeron 32 madres y 4 padres, que viven en varios municipios de Ciudad de La Habana. Se realizó en 3 fases y se aplicaron 3 talleres. Los datos obtenidos se tabularon por el método de conteo simple, se expresaron en porcentajes y se reflejaron en tablas. RESULTADOS: antes de los talleres los padres reconocían las minusvalías en sus hijos, las minusvalías más frecuentes son el trastorno del lenguaje, dificultades en el autovalidismo y en el cumplimiento de las órdenes, creen en la posibilidad de integrarse a la sociedad. Después de los talleres aumentó el reconocimiento de estas discapacidades, la necesidad de recibir información para estimular al niño y la esperanza de los padres en sus hijos. CONCLUSIONES: los talleres impartidos fueron efectivos para mejorar el conocimiento y la educación de los padres acerca de la enfermedad, y aumentaron las expectativas en el futuro de

  6. Neonatal and infantile acne vulgaris: an update.

    Science.gov (United States)

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  7. Infantile masturbation and paroxysmal disorders.

    Science.gov (United States)

    Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

    2008-02-01

    A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

  8. Global search of triggered non-volcanic tremor

    Science.gov (United States)

    Chao, Tzu-Kai Kevin

    Deep non-volcanic tremor is a newly discovered seismic phenomenon with low amplitude, long duration, and no clear P- and S-waves as compared with regular earthquake. Tremor has been observed at many major plate-boundary faults, providing new information about fault slip behaviors below the seismogenic zone. While tremor mostly occurs spontaneously (ambient tremor) or during episodic slow-slip events (SSEs), sometimes tremor can also be triggered during teleseismic waves of distance earthquakes, which is known as "triggered tremor". The primary focus of my Ph.D. work is to understand the physical mechanisms and necessary conditions of triggered tremor by systematic investigations in different tectonic regions. In the first chapter of my dissertation, I conduct a systematic survey of triggered tremor beneath the Central Range (CR) in Taiwan for 45 teleseismic earthquakes from 1998 to 2009 with Mw ≥ 7.5. Triggered tremors are visually identified as bursts of high-frequency (2-8 Hz), non-impulsive, and long-duration seismic energy that are coherent among many seismic stations and modulated by the teleseismic surface waves. A total of 9 teleseismic earthquakes has triggered clear tremor in Taiwan. The peak ground velocity (PGV) of teleseismic surface waves is the most important factor in determining tremor triggering potential, with an apparent threshold of ˜0.1 cm/s, or 7-8 kPa. However, such threshold is partially controlled by the background noise level, preventing triggered tremor with weaker amplitude from being observed. In addition, I find a positive correlation between the PGV and the triggered tremor amplitude, which is consistent with the prediction of the 'clock-advance' model. This suggests that triggered tremor can be considered as a sped-up occurrence of ambient tremor under fast loading from the passing surface waves. Finally, the incident angles of surface waves also play an important rule in controlling the tremor triggering potential. The next

  9. Interdisciplinary management of infantile colic

    Directory of Open Access Journals (Sweden)

    Luis Miguel Becerra-Granados

    2017-07-01

    This article presents a structural review of evidence on the fundamentals and progress in the treatment of infantile colic, and compiles the characteristics of this pathology, the medical and nutritional therapeutic measures, the clinical approach and the techniques to help the patient and his family. This study seeks to provide technical tools to health professionals whose target population is children younger than 2 years of age.

  10. Insights into Pathophysiology from Medication-induced Tremor

    Directory of Open Access Journals (Sweden)

    John C. Morgan

    2017-10-01

    Full Text Available Background: Medication-induced tremor (MIT is common in clinical practice and there are many medications/drugs that can cause or exacerbate tremors. MIT typically occurs by enhancement of physiological tremor (EPT, but not all drugs cause tremor in this way. In this manuscript, we review how some common examples of MIT have informed us about the pathophysiology of tremor.Methods: We performed a PubMed literature search for published articles dealing with MIT and attempted to identify articles that especially dealt with the medication’s mechanism of inducing tremor.Results: There is a paucity of literature that deals with the mechanisms of MIT, with most manuscripts only describing the frequency and clinical settings where MIT is observed. That being said, MIT emanates from multiple mechanisms depending on the drug and it often takes an individualized approach to manage MIT in a given patient.Discussion: MIT has provided some insight into the mechanisms of tremors we see in clinical practice. The exact mechanism of MIT is unknown for most medications that cause tremor, but it is assumed that in most cases physiological tremor is influenced by these medications. Some medications (epinephrine that cause EPT likely lead to tremor by peripheral mechanisms in the muscle (β-adrenergic agonists, but others may influence the central component (amitriptyline. Other drugs can cause tremor, presumably by blockade of dopamine receptors in the basal ganglia (dopamine-blocking agents, by secondary effects such as causing hyperthyroidism (amiodarone, or by other mechanisms. We will attempt to discuss what is known and unknown about the pathophysiology of the most common MITs.

  11. Scaling analysis of the effects of load on hand tremor movements in essential tremor

    Science.gov (United States)

    Blesić, S.; Stratimirović, Dj.; Milošević, S.; Marić, J.; Kostić, V.; Ljubisavljević, M.

    2011-05-01

    In this paper we have used the Wavelet Transform (WT) and the Detrended Fluctuation Analysis (DFA) methods to analyze hand tremor movements in essential tremor (ET), in two different recording conditions (before and after the addition of wrist-cuff load). We have analyzed the time series comprised of peak-to-peak (PtP) intervals, extracted from regions around the first three main frequency components of the power spectra (PwS) of the recorded tremors, in order to substantiate results related to the effects of load on ET, to distinguish between multiple sources of ET, and to separate the influence of peripheral factors on ET. Our results show that, in ET, the dynamical characteristics, that is, values of respective scaling exponents, of the main frequency component of recorded tremors change after the addition of load. Our results also show that in all the observed cases the scaling behavior of the calculated functions changes as well-the calculated WT scalegrams and DFA functions display a shift in the position of the crossover when the load is added. We conclude that the difference in behavior of the WT and DFA functions between different conditions in ET could be associated with the expected pathology in ET, or with some additional mechanism that controls movements in ET patients, and causes the observed changes in scaling behavior.

  12. Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review

    Directory of Open Access Journals (Sweden)

    Majid Alfadhel

    2017-10-01

    Full Text Available Solute carrier family 19 (thiamine transporter, member 3 ( SCL19A3 gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects and compare the literature with our patient.

  13. Striations, duration, migration and tidal response in deep tremor.

    Science.gov (United States)

    Ide, Satoshi

    2010-07-15

    Deep tremor in subduction zones is thought to be caused by small repeating shear slip events on the plate interface with significant slow components. It occurs at a depth of about 30 kilometres and provides valuable information on deep plate motion and shallow stress accumulation on the fault plane of megathrust earthquakes. Tremor has been suggested to repeat at a regular interval, migrate at various velocities and be modulated by tidal stress. Here I show that some time-invariant interface property controls tremor behaviour, using precise location of tremor sources with event duration in western Shikoku in the Nankai subduction zone, Japan. In areas where tremor duration is short, tremor is more strongly affected by tidal stress and migration is inhibited. Where tremor lasts longer, diffusive migration occurs with a constant diffusivity of 10(4) m(2) s(-1). The control property may be the ratio of brittle to ductile areas, perhaps determined by the influence of mantle wedge serpentinization on the plate interface. The spatial variation of the controlling property seems to be characterized by striations in tremor source distribution, which follows either the current or previous plate subduction directions. This suggests that the striations and corresponding interface properties are formed through the subduction of inhomogeneous structure, such as seamounts, for periods as long as ten million years.

  14. Linear modeling of possible mechanisms for parkinson tremor generation

    NARCIS (Netherlands)

    Lohnberg, P.

    1978-01-01

    The power of Parkinson tremor is expressed in terms of possibly changed frequency response functions between relevant variables in the neuromuscular system. The derivation starts out from a linear loopless equivalent model of mechanisms for general tremor generation. Hypothetical changes in this

  15. Modulating basal ganglia and cerebellar activity to suppress parkinsonian tremor

    NARCIS (Netherlands)

    Heida, Tjitske; Zhao, Yan; van Wezel, Richard Jack Anton

    2013-01-01

    Despite extensive research, the detailed pathophysiology of the parkinsonian tremor is still unknown. It has been hypothesized that the generation of parkinsonian tremor is related to abnormal activity within the basal ganglia. The cerebello-thalamic-cortical loop has been suggested to indirectly

  16. Dopamine controls Parkinson's tremor by inhibiting the cerebellar thalamus

    NARCIS (Netherlands)

    Dirkx, M.F.M.; Ouden, H.E.M. den; Aarts, E.; Timmer, M.H.M.; Bloem, B.R.; Toni, I.; Helmich, R.C.G.

    2017-01-01

    Parkinson's resting tremor is related to altered cerebral activity in the basal ganglia and the cerebello-thalamo-cortical circuit. Although Parkinson's disease is characterized by dopamine depletion in the basal ganglia, the dopaminergic basis of resting tremor remains unclear: dopaminergic

  17. Phenomenology of tremor-like signals observed over hydrocarbon reservoirs

    NARCIS (Netherlands)

    Dangel, S.; Schaepman, M.E.; Stoll, E.P.; Carniel, R.; Barzandji, O.; Rode, E.D.; Singer, J.M.

    2003-01-01

    We have observed narrow-band, low-frequency (1.5-4 Hz, amplitude 0.01-10 mum/s) tremor signals on the surface over hydrocarbon reservoirs (oil, gas and water multiphase fluid systems in porous media) at currently 15 sites worldwide. These 'hydrocarbon tremors' possess remarkably similar spectral and

  18. Estimation of the phase response curve from Parkinsonian tremor.

    Science.gov (United States)

    Saifee, Tabish A; Edwards, Mark J; Kassavetis, Panagiotis; Gilbertson, Tom

    2016-01-01

    Phase response curves (PRCs), characterizing the response of an oscillator to weak external perturbation, have been estimated from a broad range of biological oscillators, including single neurons in vivo. PRC estimates, in turn, provide an intuitive insight into how oscillatory systems become entrained and how they can be desynchronized. Here, we explore the application of PRC theory to the case of Parkinsonian tremor. Initial attempts to establish a causal effect of subthreshold transcranial magnetic stimulation applied to primary motor cortex on the filtered tremor phase were unsuccessful. We explored the possible explanations of this and demonstrate that assumptions made when estimating the PRC in a traditional setting, such as a single neuron, are not arbitrary when applied to the case of tremor PRC estimation. We go on to extract the PRC of Parkinsonian tremor using an iterative method that requires varying the definition of the tremor cycle and estimating the PRC at multiple peristimulus time samples. Justification for this method is supported by estimates of PRC from simulated single neuron data. We provide an approach to estimating confidence limits for tremor PRC and discuss the interpretational caveats introduced by tremor harmonics and the intrinsic variability of the tremor's period. Copyright © 2016 the American Physiological Society.

  19. Sensory electrical stimulation for suppression of postural tremor in patients with essential tremor.

    Science.gov (United States)

    Heo, Jae-Hoon; Kim, Ji-Won; Kwon, Yuri; Lee, Sang-Ki; Eom, Gwang-Moon; Kwon, Do-Young; Lee, Chan-Nyeong; Park, Kun-Woo; Manto, Mario

    2015-01-01

    Essential tremor is an involuntary trembling of body limbs in people without tremor-related disease. In previous study, suppression of tremor by sensory electrical stimulation was confirmed on the index finger. This study investigates the effect of sensory stimulation on multiple segments and joints of the upper limb. It denotes the observation regarding the effect's continuity after halting the stimulation. 18 patients with essential tremor (8 men and 10 women) participated in this study. The task, "arms stretched forward", was performed and sensory electrical stimulation was applied on four muscles of the upper limb (Flexor Carpi Radialis, Extensor Carpi Radialis, Biceps Brachii, and Triceps Brachii) for 15 seconds. Three 3-D gyro sensors were used to measure the angular velocities of segments (finger, hand, and forearm) and joints (metacarpophalangeal and wrist joints) for three phases of pre-stimulation (Pre), during-stimulation (On), and 5 minute post-stimulation (P5). Three characteristic variables of root-mean-squared angular velocity, peak power, and peak power frequency were derived from the vector sum of the sensor signals. At On phase, RMS velocity was reduced from Pre in all segments and joints while peak power was reduced from Pre in all segments and joints except for forearm segment. Sensory stimulation showed no effect on peak power frequency. All variables at P5 were similar to those at On at all segments and joints. The decrease of peak power of the index finger was noted by 90% during stimulation from that of On phase, which was maintained even after 5 min. The results indicate that sensory stimulation may be an effective clinical method to treat the essential tremor.

  20. Tectonic tremor and LFEs on a reverse fault in Taiwan

    Science.gov (United States)

    Aguiar, Ana C.; Chao, Kevin; Beroza, Gregory C.

    2017-07-01

    We compare low-frequency earthquakes (LFEs) from triggered and ambient tremor under the southern Central Range, Taiwan. We apply the PageRank algorithm used by Aguiar and Beroza (2014) that exploits the repetitive nature of the LFEs to find repeating LFEs in both ambient and triggered tremor. We use these repeaters to create LFE templates and find that the templates created from both tremor types are very similar. To test their similarity, we use both interchangeably and find that most of both the ambient and triggered tremor match the LFE templates created from either data set, suggesting that LFEs for both events have a common origin. We locate the LFEs by using local earthquake P wave and S wave information and find that LFEs from triggered and ambient tremor locate to between 20 and 35 km on what we interpret as the deep extension of the Chaochou-Lishan Fault.

  1. Vocal Tremor: Novel Therapeutic Target for Deep Brain Stimulation

    Directory of Open Access Journals (Sweden)

    Vinod K. Ravikumar

    2016-10-01

    Full Text Available Tremulous voice is characteristically associated with essential tremor, and is referred to as essential vocal tremor (EVT. Current estimates suggest that up to 40% of individuals diagnosed with essential tremor also present with EVT, which is associated with an impaired quality of life. Traditional EVT treatments have demonstrated limited success in long-term management of symptoms. However, voice tremor has been noted to decrease in patients receiving deep brain stimulation (DBS with the targeting of thalamic nuclei. In this study, we describe our multidisciplinary procedure for awake, frameless DBS with optimal stimulation targets as well as acoustic analysis and laryngoscopic assessment to quantify tremor reduction. Finally, we investigate the most recent clinical evidence regarding the procedure.

  2. Reversible Holmes' tremor due to spontaneous intracranial hypotension.

    Science.gov (United States)

    Iyer, Rajesh Shankar; Wattamwar, Pandurang; Thomas, Bejoy

    2017-07-27

    Holmes' tremor is a low-frequency hand tremor and has varying amplitude at different phases of motion. It is usually unilateral and does not respond satisfactorily to drugs and thus considered irreversible. Structural lesions in the thalamus and brainstem or cerebellum are usually responsible for Holmes' tremor. We present a 23-year-old woman who presented with unilateral Holmes' tremor. She also had hypersomnolence and headache in the sitting posture. Her brain imaging showed brain sagging and deep brain swelling due to spontaneous intracranial hypotension (SIH). She was managed conservatively and had a total clinical and radiological recovery. The brain sagging with the consequent distortion of the midbrain and diencephalon was responsible for this clinical presentation. SIH may be considered as one of the reversible causes of Holmes' tremor. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  3. Seismic network based detection, classification and location of volcanic tremors

    Science.gov (United States)

    Nikolai, S.; Soubestre, J.; Seydoux, L.; de Rosny, J.; Droznin, D.; Droznina, S.; Senyukov, S.; Gordeev, E.

    2017-12-01

    Volcanic tremors constitute an important attribute of volcanic unrest in many volcanoes, and their detection and characterization is a challenging issue of volcano monitoring. The main goal of the present work is to develop a network-based method to automatically classify volcanic tremors, to locate their sources and to estimate the associated wave speed. The method is applied to four and a half years of seismic data continuously recorded by 19 permanent seismic stations in the vicinity of the Klyuchevskoy volcanic group (KVG) in Kamchatka (Russia), where five volcanoes were erupting during the considered time period. The method is based on the analysis of eigenvalues and eigenvectors of the daily array covariance matrix. As a first step, following Seydoux et al. (2016), most coherent signals corresponding to dominating tremor sources are detected based on the width of the covariance matrix eigenvalues distribution. With this approach, the volcanic tremors of the two volcanoes known as most active during the considered period, Klyuchevskoy and Tolbachik, are efficiently detected. As a next step, we consider the array covariance matrix's first eigenvectors computed every day. The main hypothesis of our analysis is that these eigenvectors represent the principal component of the daily seismic wavefield and, for days with tremor activity, characterize the dominant tremor sources. Those first eigenvectors can therefore be used as network-based fingerprints of tremor sources. A clustering process is developed to analyze this collection of first eigenvectors, using correlation coefficient as a measure of their similarity. Then, we locate tremor sources based on cross-correlations amplitudes. We characterize seven tremor sources associated with different periods of activity of four volcanoes: Tolbachik, Klyuchevskoy, Shiveluch, and Kizimen. The developed method does not require a priori knowledge, is fully automatic and the database of network-based tremor fingerprints

  4. Differences in postural tremor dynamics with age and neurological disease.

    Science.gov (United States)

    Morrison, Steven; Newell, Karl M; Kavanagh, Justin J

    2017-06-01

    The overlap of dominant tremor frequencies and similarly amplified tremor observed for Parkinson's disease (PD) and essential tremor (ET) means differentiating between these pathologies is often difficult. As tremor exhibits non-linear properties, employing both linear and non-linear analyses may help distinguish between the tremor dynamics of aging, PD and ET. This study was designed to examine postural tremor in healthy older adults, PD and ET using standard linear and non-linear metrics. Hand and finger postural tremor was recorded in 15 healthy older adults (64 ± 6 years), 15 older individuals with PD (63 ± 6 years), and 10 persons with ET (68 ± 7 years). Linear measures of amplitude, frequency, and between-limb coupling (coherence) were performed. Non-linear measures of regularity (ApEn) and coupling (Cross-ApEn) were also used. Additionally, receiver operating characteristic analyses were performed for those measures that were significantly different between all groups. The results revealed that the linear measures only showed significant differences between the healthy adults and ET/PD persons, but no differences between the two neurological groups. Coherence showed higher bilateral coupling for ET but no differences in inter-limb coupling between PD and healthy subjects. However, ApEn values for finger tremor revealed significant differences between all groups, with tremor for ET persons being more regular (lower ApEn) overall. Similarly, Cross-ApEn results also showed differences between all groups, with ET persons showing strongest inter-limb coupling followed by PD and elderly. Overall, our findings point to the diagnostic potential for non-linear measures of coupling and tremor structure as biomarkers for discriminating between ET, PD and healthy persons.

  5. An autocorrelation method to detect low frequency earthquakes within tremor

    Science.gov (United States)

    Brown, J.R.; Beroza, G.C.; Shelly, D.R.

    2008-01-01

    Recent studies have shown that deep tremor in the Nankai Trough under western Shikoku consists of a swarm of low frequency earthquakes (LFEs) that occur as slow shear slip on the down-dip extension of the primary seismogenic zone of the plate interface. The similarity of tremor in other locations suggests a similar mechanism, but the absence of cataloged low frequency earthquakes prevents a similar analysis. In this study, we develop a method for identifying LFEs within tremor. The method employs a matched-filter algorithm, similar to the technique used to infer that tremor in parts of Shikoku is comprised of LFEs; however, in this case we do not assume the origin times or locations of any LFEs a priori. We search for LFEs using the running autocorrelation of tremor waveforms for 6 Hi-Net stations in the vicinity of the tremor source. Time lags showing strong similarity in the autocorrelation represent either repeats, or near repeats, of LFEs within the tremor. We test the method on an hour of Hi-Net recordings of tremor and demonstrates that it extracts both known and previously unidentified LFEs. Once identified, we cross correlate waveforms to measure relative arrival times and locate the LFEs. The results are able to explain most of the tremor as a swarm of LFEs and the locations of newly identified events appear to fill a gap in the spatial distribution of known LFEs. This method should allow us to extend the analysis of Shelly et al. (2007a) to parts of the Nankai Trough in Shikoku that have sparse LFE coverage, and may also allow us to extend our analysis to other regions that experience deep tremor, but where LFEs have not yet been identified. Copyright 2008 by the American Geophysical Union.

  6. Volcanic tremor masks its seismogenic source: Results from a study of noneruptive tremor recorded at Mount St. Helens, Washington

    Science.gov (United States)

    Denlinger, Roger P.; Moran, Seth C.

    2014-01-01

    On 2 October 2004, a significant noneruptive tremor episode occurred during the buildup to the 2004–2008 eruption of Mount St. Helens (Washington). This episode was remarkable both because no explosion followed, and because seismicity abruptly stopped following the episode. This sequence motivated us to consider a model for volcanic tremor that does not involve energetic gas release from magma but does involve movement of conduit magma through extension on its way toward the surface. We found that the tremor signal was composed entirely of Love and Rayleigh waves and that its spectral bandwidth increased and decreased with signal amplitude, with broader bandwidth signals containing both higher and lower frequencies. Our modeling results demonstrate that the forces giving rise to this tremor were largely normal to conduit walls, generating hybrid head waves along conduit walls that are coupled to internally reflected waves. Together these form a crucial part of conduit resonance, giving tremor wavefields that are largely a function of waveguide geometry and velocity. We find that the mechanism of tremor generation fundamentally masks the nature of the seismogenic source giving rise to resonance. Thus multiple models can be invoked to explain volcanic tremor, requiring that information from other sources (such as visual observations, geodesy, geology, and gas geochemistry) be used to constrain source models. With concurrent GPS and field data supporting rapid rise of magma, we infer that tremor resulted from drag of nearly solid magma along rough conduit walls as magma was forced toward the surface.

  7. Effects of timolol and atenolol on benign essential tremor: placebo-controlled studies based on quantitative tremor recording.

    Science.gov (United States)

    Dietrichson, P; Espen, E

    1981-08-01

    Two different beta-adrenoreceptor antagonists, atenolol and timolol, were separately compared with a placebo in the suppression of essential tremor. In two-week single-blind placebo-controlled studies with cross-over, timolol (5 mg twice daily) and atenolol (100 mg once daily) produced an equal reduction in sitting heart rate and sitting blood pressure. Timolol was effective in reducing tremor while atenolol failed to reduce tremor amplitude. These results indicate that essential tremor can be reduced but not blocked, by the adrenergic blocker timolol with both beta 1 and beta 2 blocking properties; but not by the relatively selective beta 1 blocking drug atenolol. Possibly, the tremor reduction is medicated by a peripheral effect on beta 2 adrenoreceptors.

  8. Does eye tremor provide the hyperacuity phenomenon?

    International Nuclear Information System (INIS)

    Zozor, Steeve; Amblard, Pierre-Olivier; Duchêne, Cédric

    2009-01-01

    This paper is devoted to a study of the role of the fluctuations that the eye is subject to, from the point of view of noise-enhanced processing. To this end, a basic model of the retina is considered, namely a regular sampler subject to space and time fluctuations that model the random sampling and the involuntary eye tremor respectively. The filtering that can be done by the photoreceptor is also taken into account and the study focuses on a stochastic model of a natural scene. To quantify the effect of the noise, a coefficient of correlation between the signal acquired by a given photoreceptor and a given point of the scene that the eye is looking at is considered. It is shown both for academic examples and for a more realistic case that the fluctuations which affect the retina can induce noise-enhanced processing effects. The observed effect is then interpreted as a stochastic control of the retina via the random tremor

  9. The course of cervical dystonia with head tremor during botulinum toxin type A treatment

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    A. N. Korenko

    2017-01-01

    Full Text Available Objective: to evaluate the efficacy and safety of botulinum toxin type A (BTA injections into the neck muscles to reduce dystonic postures, head tremor, and pain syndrome in patients with cervical dystonia (CD within the first 8 cycles of treatment.Patients and methods. The investigation included 76 patients (26 (34% men and 50 (66% women with CD and dystonic head tremor, who were given BTA injections into the neck muscles for the first time. All the 76 patients received at least one cycle of BTA therapy. At the same type, 18 of these patients received 4 cycles of injections and 36 patients had 8 cycles. Injections were given when the symptoms of CD recurred or increased and the patient needed to be retreated. The interval between the injection cycles was arbitrary, but not less than 12 weeks. The doses of BTA agents per treatment cycle were as follows: Dysport was 400 to 1000 U, xeomin was 50 to 300 U, and Botox 200 to 300 U. The symptoms of CD were assessed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS and the Tsui scale before the first injection of BTA and injection cycles 4 and 8; the presence or absence of head tremor was recorded.Results. The TWSTRS severity of CD symptoms decreased from 38 [36; 41] to 30 [27; 33] scores by injection cycle 4 (p < 0.001 and to 26 [23; 27] scores by cycle 8 (p<0.01. The Tsui severity of CD reduced from 9.3 [9; 10] to 7.2 [7; 8] scores by injection cycle 4 (p<0.001 and to 6.7 [6; 7] scores by cycle 8. The Tsui tremor scores decreased from 1.9 [1.6; 2.1] to 1.4 [1.1; 1.6] scores by injection cycle 4 and to 1.1 [0.9;1.4] scores by cycle 8 (p<0.01. Tremor completely disappeared in 6 (11% of patients by injection cycle 4 and in 6 (18% patients by cycle 8. According to Section 3 of the TWSTRS, pain intensity was reduced from 9.9 [8.9; 11.0] to 5.0 [3.3; 6.6] scores by injection cycle 4 (p<0.001 and to 2.1 [0.7; 3.6] scores by cycle 8 (p < 0.01; pain regressed completely in 12 (41

  10. Motor and Non-motor Features: Differences between Patients with Isolated Essential Tremor and Patients with Both Essential Tremor and Parkinson's Disease

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    Apostolia Ghika

    2015-08-01

    Full Text Available Background: Patients with essential tremor (ET who develop Parkinson’s disease (ET->PD may differ with respect to motor features (MFs and non-motor features (NMFs from patients with isolated ET. Few studies have assessed this issue. Methods: In this retrospective chart review, we analyzed data on MFs and NMFs of 175 patients, including 54 ET->PD and 121 ET, actively followed in the Athens University 1st Neurology Department. Results: Significantly more ET->PD than ET patients reported asymmetric tremor at ET onset (68.5% vs. 14.9%, p<0.001.  Significantly more ET than ET->PD patients had head tremor (43.5% vs. 13.2%, p<0.001 and cerebellar signs (41.3% vs. 9.3%, p<0.001. More ET than ET->PD patients reported hearing impairment (65.3% vs. 28.3%, p<0.001 and restless legs syndrome (34.8% vs. 3.7%, p<0.001. Conversely, a larger proportion of ET->PD than ET patients reported rapid eye movement behavior disorder (51.9% vs. 10.0%, p<0.001, constipation (67.9% vs. 36.4%, p<0.001, and olfactory dysfunction (83.3% vs. 36.4%, p<0.001. Discussion: The subset of ET->PD patients may have distinct MFs and NMFs that should be assessed further for the possible predictive value for the emergence of PD.  

  11. Infantile spasms: A prognostic evaluation

    Directory of Open Access Journals (Sweden)

    Mary Iype

    2016-01-01

    Full Text Available Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a the etiology, demographics, semiology, electroencephalogram (EEG, and radiological pattern; b seizure control, psychomotor development, and EEG resolution with treatment; c the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. Materials and Methods: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. Results: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH. No predictor could be identified for abnormal psychomotor development. Discussion and Conclusion: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging.

  12. Rest and action tremor in Parkinson's disease: effects of Deep Brain Stimulation

    NARCIS (Netherlands)

    Heida, Tjitske; Wentink, E.C.

    2010-01-01

    One of the cardinal symptoms of Parkinson’s disease is rest tremor. While rest tremor generally disappears during sleep and voluntary movement, action tremor may be triggered by voluntary movement, and may even be more disabling than rest tremor. Deep brain stimulation (DBS) in the subthalamic

  13. Quantitative methods for evaluating the efficacy of thalamic deep brain stimulation in patients with essential tremor.

    Science.gov (United States)

    Wastensson, Gunilla; Holmberg, Björn; Johnels, Bo; Barregard, Lars

    2013-01-01

    Deep brain stimulation (DBS) of the thalamus is a safe and efficient method for treatment of disabling tremor in patient with essential tremor (ET). However, successful tremor suppression after surgery requires careful selection of stimulus parameters. Our aim was to examine the possible use of certain quantitative methods for evaluating the efficacy of thalamic DBS in ET patients in clinical practice, and to compare these methods with traditional clinical tests. We examined 22 patients using the Essential Tremor Rating Scale (ETRS) and quantitative assessment of tremor with the stimulator both activated and deactivated. We used an accelerometer (CATSYS tremor Pen) for quantitative measurement of postural tremor, and a eurythmokinesimeter (EKM) to evaluate kinetic tremor in a rapid pointing task. The efficacy of DBS on tremor suppression was prominent irrespective of the method used. The agreement between clinical rating of postural tremor and tremor intensity as measured by the CATSYS tremor pen was relatively high (rs = 0.74). The agreement between kinetic tremor as assessed by the ETRS and the main outcome variable from the EKM test was low (rs = 0.34). The lack of agreement indicates that the EKM test is not comparable with the clinical test. Quantitative methods, such as the CATSYS tremor pen, could be a useful complement to clinical tremor assessment in evaluating the efficacy of DBS in clinical practice. Future studies should evaluate the precision of these methods and long-term impact on tremor suppression, activities of daily living (ADL) function and quality of life.

  14. Tremor frequency characteristics in Parkinson's disease under resting-state and stress-state conditions.

    Science.gov (United States)

    Lee, Hong Ji; Lee, Woong Woo; Kim, Sang Kyong; Park, Hyeyoung; Jeon, Hyo Seon; Kim, Han Byul; Jeon, Beom S; Park, Kwang Suk

    2016-03-15

    Tremor characteristics-amplitude and frequency components-are primary quantitative clinical factors for diagnosis and monitoring of tremors. Few studies have investigated how different patient's conditions affect tremor frequency characteristics in Parkinson's disease (PD). Here, we analyzed tremor characteristics under resting-state and stress-state conditions. Tremor was recorded using an accelerometer on the finger, under resting-state and stress-state (calculation task) conditions, during rest tremor and postural tremor. The changes of peak power, peak frequency, mean frequency, and distribution of power spectral density (PSD) of tremor were evaluated across conditions. Patients whose tremors were considered more than "mild" were selected, for both rest (n=67) and postural (n=25) tremor. Stress resulted in both greater peak powers and higher peak frequencies for rest tremor (pstate condition. The distributions of PSD of tremor were symmetrical, regardless of conditions. Tremor is more evident and typical tremor characteristics, namely a lower frequency as amplitude increases, are different in stressful condition. Patient's conditions directly affect neural oscillations related to tremor frequencies. Therefore, tremor characteristics in PD should be systematically standardized across patient's conditions such as attention and stress levels. Copyright © 2016. Published by Elsevier B.V.

  15. The distributed somatotopy of tremor: a window into the motor system

    NARCIS (Netherlands)

    Helmich, R.C.G.

    2013-01-01

    The posterior ventrolateral thalamus (VLp) plays a crucial role in Parkinson's tremor and in essential tremor: deep brain stimulation (DBS) of the VLp effectively diminishes both tremor types. Previous research has shown tremor oscillations in the VLp, but the spatial extent and somatotopy of these

  16. Cerebral gigantism with West syndrome.

    Science.gov (United States)

    Ray, Munni; Malhi, P; Bhalla, A K; Singhi, P D

    2003-07-01

    A case of cerebral gigantism (Sotos syndrome) with West syndrome in a one-year-old male child is reported. The case had a large stature, typical facies and neurodevelopmental delay along with infantile spasms, which were refractory to treatment with valproate and clonazepam.

  17. Effects of beta-blockers and nicardipine on oxotremorine-induced tremor in common marmosets.

    Science.gov (United States)

    Mitsuda, M; Nomoto, M; Iwata, S

    1999-10-01

    Effects of beta-blockers (propranolol, arotinolol and nipradilol) and a Ca2+ channel blocker (nicardipine) on oxotremorine-induced tremor were studied in common marmosets. Generalized tremor was elicited by an intraperitoneal administration of 0.25 mg/kg oxotremorine. Intensity of the tremor was classified into 7 degrees, and it was evaluated every 10 min. The total intensity of oxotremorine-induced tremor for each drug was expressed as "points", which were the sum of tremor intensity scores evaluated every 10 min up to 190 min following the administration of oxotremorine. Beta-blockers significantly suppressed the tremor. On the other hand, the Ca2+ channel blocker exacerbated the tremor.

  18. Median Filtering Methods for Non-volcanic Tremor Detection

    Science.gov (United States)

    Damiao, L. G.; Nadeau, R. M.; Dreger, D. S.; Luna, B.; Zhang, H.

    2016-12-01

    Various properties of median filtering over time and space are used to address challenges posed by the Non-volcanic tremor detection problem. As part of a "Big-Data" effort to characterize the spatial and temporal distribution of ambient tremor throughout the Northern San Andreas Fault system, continuous seismic data from multiple seismic networks with contrasting operational characteristics and distributed over a variety of regions are being used. Automated median filtering methods that are flexible enough to work consistently with these data are required. Tremor is characterized by a low-amplitude, long-duration signal-train whose shape is coherent at multiple stations distributed over a large area. There are no consistent phase arrivals or mechanisms in a given tremor's signal and even the durations and shapes among different tremors vary considerably. A myriad of masquerading noise, anthropogenic and natural-event signals must also be discriminated in order to obtain accurate tremor detections. We present here results of the median methods applied to data from four regions of the San Andreas Fault system in northern California (Geysers Geothermal Field, Napa, Bitterwater and Parkfield) to illustrate the ability of the methods to detect tremor under diverse conditions.

  19. Serotonergic modulation of nicotine-induced kinetic tremor in mice.

    Science.gov (United States)

    Kunisawa, Naofumi; Iha, Higor A; Nomura, Yuji; Onishi, Misaki; Matsubara, Nami; Shimizu, Saki; Ohno, Yukihiro

    2017-06-01

    We previously demonstrated that nicotine elicited kinetic tremor by elevating the neural activity of the inferior olive via α7 nicotinic acetylcholine (nACh) receptors. Since α7 nACh receptors reportedly facilitate synaptic monoamine release, we explored the role of 5-HT receptors in induction and/or modulation of nicotine tremor. Treatment of mice with nicotine induced kinetic tremor that normally appeared during movement. The 5-HT 1A agonist, 8-hydroxydipropylaminotetraline (8-OH-DPAT), significantly enhanced nicotine-induced tremor and the action of 8-OH-DPAT was antagonized by WAY-100135 (5-HT 1A antagonist). In addition, the cerebral 5-HT depletion by repeated treatment with p-chlorophenylalanine did not reduce, but rather potentiated the facilitatory effects of 8-OH-DPAT. In contrast, the 5-HT 2 agonist, 2,5-dimethoxy-4-iodoamphetamine (DOI), significantly attenuated nicotine tremor, which was antagonized by ritanserin (5-HT 2 antagonist). The 5-HT 3 agonist SR-57227 did not affect nicotine-induced tremor. Furthermore, when testing the direct actions of 5-HT antagonists, nicotine tremor was inhibited by WAY-100135, but was unaffected by ritanserin, ondansetron (5-HT 3 antagonist) or SB-258585 (5-HT 6 antagonist). These results suggest that postsynaptic 5-HT 1A receptors are involved in induction of nicotine tremor mediated by α7 nACh receptors. In addition, 5-HT 2 receptors have an inhibitory modulatory role in induction of nicotine tremor. Copyright © 2017 The Authors. Production and hosting by Elsevier B.V. All rights reserved.

  20. Focal mechanisms and tidal modulation for tectonic tremors in Taiwan

    Science.gov (United States)

    Ide, S.; Yabe, S.; Tai, H. J.; Chen, K. H.

    2015-12-01

    Tectonic tremors in Taiwan have been discovered beneath the southern Central Range, but their hosting structure has been unknown. Here we constrain the focal mechanism of underground deformation related to tremors, using moment tensor inversion in the very low frequency band and tidal stress analysis. Three types of seismic data are used for two analysis steps: detection of tremors and the moment tensor inversion. Short-period seismograms from CWBSN are used for tremor detection. Broadband seismograms from BATS and the TAIGER project are used for both steps. About 1000 tremors were detected using an envelope correlation method in the high frequency band (2-8 Hz). Broadband seismograms are stacked relative to the tremor timing, and inverted for a moment tensor in the low frequency band (0.02-0.05 Hz). The best solution was obtained at 32 km depth, as a double-couple consistent with a low-angle thrust fault dipping to the east-southeast, or a high-angle thrust with a south-southwest strike. Almost all tremors occur when tidal shear stress is positive and normal stress is negative (clamping). Since the clamping stress is high for a high-angle thrust fault, the low-angle thrust fault is more likely to be the fault plane. Tremor rate increases non-linearly with increasing shear stress, suggesting a velocity strengthening friction law. The high tidal sensitivity is inconsistent with horizontal slip motion suggested by previous studies, and normal faults that dominates regional shallow earthquakes. Our results favor thrust slip on a low-angle fault dipping to the east-southeast, consistent with the subduction of the Eurasian plate. The tremor region is characterized by a deep thermal anomaly with decrease normal stress. This region has also experienced enough subduction to produce metamorphic fluids. A large amount of fluid and low vertical stress may explain the high tidal sensitivity.

  1. Suppression of enhanced physiological tremor via stochastic noise: initial observations.

    Directory of Open Access Journals (Sweden)

    Carlos Trenado

    Full Text Available Enhanced physiological tremor is a disabling condition that arises because of unstable interactions between central tremor generators and the biomechanics of the spinal stretch reflex. Previous work has shown that peripheral input may push the tremor-related spinal and cortical systems closer to anti-phase firing, potentially leading to a reduction in tremor through phase cancellation. The aim of the present study was to investigate whether peripherally applied mechanical stochastic noise can attenuate enhanced physiological tremor and improve motor performance. Eight subjects with enhanced physiological tremor performed a visuomotor task requiring the right index finger to compensate a static force generated by a manipulandum to which Gaussian noise (3-35 Hz was applied. The finger position was displayed on-line on a monitor as a small white dot which the subjects had to maintain in the center of a larger green circle. Electromyogram (EMG from the active hand muscles and finger position were recorded. Performance was measured by the mean absolute deviation of the white dot from the zero position. Tremor was identified by the acceleration in the frequency range 7-12 Hz. Two different conditions were compared: with and without superimposed noise at optimal amplitude (determined at the beginning of the experiment. The application of optimum noise reduced tremor (accelerometric amplitude and EMG activity and improved the motor performance (reduced mean absolute deviation from zero. These data provide the first evidence of a significant reduction of enhanced physiological tremor in the human sensorimotor system due to application of external stochastic noise.

  2. El diagnóstico positivo de autismo infantil

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    Juana Velázquez Argota

    1996-08-01

    Full Text Available Se revisan los límites del síndrome autístico y la evolución del concepto de autismo infantil desde Kanner hasta las clasificaciones psiquiátricas más recientes. Se informan los resultados de nuestras investigaciones en el diagnóstico positivo del autismo infantil. La anamnesis remota es de poco valor, más relevantes para el diagnóstico constituyen el examen del paciente en el presente y las escalas de cuantificación del autismo (las cuales son de utilidad en el diagnóstico diferencial entre el trastorno autístico tipo Kanner y los trastornos autísticos atípicos. Las pruebas de inteligencia standard se deben aplicar según el nivel de funcionamiento del paciente y si no clasificara es más bien por el bajo cociente de inteligencia que por su comportamiento autístico. El clínico debería tener presente la posibilidad del diagnóstico de autismo cuando examina niños pequeños con problemas de desarrollo y utilizar escalas de síntomas autísticos adecuados a los primeros años de vida. Se recomienda el uso de la prueba de Bo Olsson en el diagnóstico diferencial de autismo de Kanner, síndrome de Rett y daño cerebral temprano en la etapa preescolar.The limits of the austistic syndrome as well as the evolution of the infantile autism concept since Kanner to the latest psychiatric classifications are reviewed. The results of our research on the positive diagnosis of infantile autism are reported. The patient's medical examination and the autism quantification scales (useful for the diferential diagnosis between the Kanner type autistic disorder and the atypical autistic disorders are more important for the diagnosis than the remote anamnesis, which is of little value. The standard intelligence test should be applied according to the patients functioning level and if he would not classify it would be because of his low intelligence quotient and not because of his autistic behaviour. The clinician should take into account the

  3. VIOLENCIA FAMILIAR Y MALTRATO INFANTIL

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    María Inés Bringiotti

    2005-01-01

    Full Text Available Este trabajo analiza las implicaciones del concepto "familia" señalando la multiplicidad de fenómenos y situaciones incluidos en el mismo. Su elucidación permitirá determinar los diversos tipos de familia y de riesgo que podemos encontrar en nuestro trabajo cotidiano. La evolución de ese concepto está directamente influida por las determinantes socioestructurales y culturales que en cada momento histórico contextualizan a los sujetos, así como las posibles situaciones de riesgo que deben enfrentar y los recursos con los que cuentan. Se analiza la influencia de las representaciones acerca de cómo debe ser una familia, en la actualidad las familias presentan diferentes formas o estructuras y ello no implica el cumplimiento o no de sus funciones. Esto permitirá establecer adecuadamente las diferentes estrategias de prevención y abordaje aplicables a cada situación. Se ejemplificará concretamente con situaciones problemáticas relacionados a los casos de violencia familiar y maltrato infantil, concretamente con la negligencia y el abuso sexual infantil.

  4. Neural correlates of dystonic tremor: A multimodal study of voice tremor in spasmodic dysphonia

    Science.gov (United States)

    Kirke, Diana N.; Battistella, Giovanni; Kumar, Veena; Rubien-Thomas, Estee; Choy, Melissa; Rumbach, Anna; Simonyan, Kristina

    2016-01-01

    Tremor, affecting a dystonic body part, is a frequent feature of adult-onset dystonia. However, our understanding of dystonic tremor pathophysiology remains ambiguous, as its interplay with the main co-occurring disorder, dystonia, is largely unknown. We used a combination of functional MRI, voxel-based morphometry and diffusion-weighted imaging to investigate similar and distinct patterns of brain functional and structural alterations in patients with dystonic tremor of voice (DTv) and isolated spasmodic dysphonia (SD). We found that, compared to controls, SD patients with and without DTv showed similarly increased activation in the sensorimotor cortex, inferior frontal (IFG) and superior temporal gyri, putamen and ventral thalamus, as well as deficient activation in the inferior parietal cortex and middle frontal gyrus (MFG). Common structural alterations were observed in the IFG and putamen, which were further coupled with functional abnormalities in both patient groups. Abnormal activation in left putamen was correlated with SD onset; SD/DTv onset was associated with right putaminal volumetric changes. DTv severity established a significant relationship with abnormal volume of the left IFG. Direct patient group comparisons showed that SD/DTv patients had additional abnormalities in MFG and cerebellar function and white matter integrity in the posterior limb of the internal capsule. Our findings suggest that dystonia and dystonic tremor, at least in the case of SD and SD/DTv, are heterogeneous disorders at different ends of the same pathophysiological spectrum, with each disorder carrying a characteristic neural signature, which may potentially help development of differential markers for these two conditions. PMID:26843004

  5. Relationship between blood harmane and harmine concentrations in familial essential tremor, sporadic essential tremor and controls.

    Science.gov (United States)

    Louis, Elan D; Jiang, Wendy; Gerbin, Marina; Mullaney, Mary M; Zheng, Wei

    2010-12-01

    Harmane, a potent tremor-producing β-carboline alkaloid, may play a role in the etiology of essential tremor (ET). Blood harmane concentrations are elevated in ET cases compared with controls yet the basis for this elevation remains unknown. Decreased metabolic conversion (harmane to harmine) is one possible explanation. Using a sample of >500 individuals, we hypothesized that defective metabolic conversion of harmane to harmine might underlie the observed elevated harmane concentration in ET, and therefore expected to find a higher harmane to harmine ratio in familial ET than in sporadic ET or controls. Blood harmane and harmine concentrations were quantified by high performance liquid chromatography. There were 78 familial ET cases, 187 sporadic ET cases, and 276 controls. Blood harmane and harmine concentrations were correlated with one another (Spearman's r=0.24, p<0.001). The mean (±SD) harmane/harmine ratio=23.4±90.9 (range=0.1-987.5). The harmane/harmine ratio was highest in familial ET (46.7±140.4), intermediate in sporadic ET (28.3±108.1), and lowest in controls (13.5±50.3) (p=0.03). In familial ET cases, there was no association between this ratio and tremor severity (Spearman's r=0.08, p=0.48) or tremor duration (Spearman's r=0.14, p=0.24). The basis for the elevated blood harmane concentration, particularly in familial ET, is not known, although the current findings (highest harmane/harmine ratio in familial ET cases) lends support to the possibility that it could be the result of a genetically-driven reduction in harmane metabolism. Copyright © 2010 Elsevier Inc. All rights reserved.

  6. Neural correlates of dystonic tremor: a multimodal study of voice tremor in spasmodic dysphonia.

    Science.gov (United States)

    Kirke, Diana N; Battistella, Giovanni; Kumar, Veena; Rubien-Thomas, Estee; Choy, Melissa; Rumbach, Anna; Simonyan, Kristina

    2017-02-01

    Tremor, affecting a dystonic body part, is a frequent feature of adult-onset dystonia. However, our understanding of dystonic tremor pathophysiology remains ambiguous as its interplay with the main co-occurring disorder, dystonia, is largely unknown. We used a combination of functional MRI, voxel-based morphometry and diffusion-weighted imaging to investigate similar and distinct patterns of brain functional and structural alterations in patients with dystonic tremor of voice (DTv) and isolated spasmodic dysphonia (SD). We found that, compared to controls, SD patients with and without DTv showed similarly increased activation in the sensorimotor cortex, inferior frontal (IFG) and superior temporal gyri, putamen and ventral thalamus, as well as deficient activation in the inferior parietal cortex and middle frontal gyrus (MFG). Common structural alterations were observed in the IFG and putamen, which were further coupled with functional abnormalities in both patient groups. Abnormal activation in left putamen was correlated with SD onset; SD/DTv onset was associated with right putaminal volumetric changes. DTv severity established a significant relationship with abnormal volume of the left IFG. Direct patient group comparisons showed that SD/DTv patients had additional abnormalities in MFG and cerebellar function and white matter integrity in the posterior limb of the internal capsule. Our findings suggest that dystonia and dystonic tremor, at least in the case of SD and SD/DTv, are heterogeneous disorders at different ends of the same pathophysiological spectrum, with each disorder carrying a characteristic neural signature, which may potentially help development of differential markers for these two conditions.

  7. Jaw tremor as a physiological biomarker of bruxism.

    Science.gov (United States)

    Laine, C M; Yavuz, Ş U; D'Amico, J M; Gorassini, M A; Türker, K S; Farina, D

    2015-09-01

    To determine if sleep bruxism is associated with abnormal physiological tremor of the jaw during a visually-guided bite force control task. Healthy participants and patients with sleep bruxism were given visual feedback of their bite force and asked to trace triangular target trajectories (duration=20s, peak force bruxism have abnormal jaw tremor when engaged in a visually-guided bite force task. Measurement of jaw tremor may aid in the detection/evaluation of bruxism. In light of previous literature, our results also suggest that bruxism is marked by abnormal or mishandled peripheral feedback from the teeth. Copyright © 2015. Published by Elsevier Ireland Ltd.

  8. Desmoplastic infantile ganglioglioma : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Won Kyu; Byun, Woo Mok; Kim, Dong Suk [Yeungnam Univ. School of Medicine, Kyongsan (Korea, Republic of)

    1999-05-01

    Desmoplastic infantile ganglioglioma is an uncommon variety of ganglioglioma that shows evidence of glial and ganglionic differentiation accompanied by an extreme desmoplastic reaction. A 16-month-old girl was admitted with a six-day history of left hemiparesis. MR imaging demonstrated a large multiseptated cystic mass, with a solid portion, in the white matter of the right frontotemporoparietal lobe. After contrast injections, the solid portion was clearly enhanced. The presence of desmoplastic infantile ganglioglioma was confirmed by surgical resection. We describe the characteristic radiologic and pathologic features of desmoplastic infantile ganglioglioma, and include a review of the literature.

  9. Salud y mortalidad infantil en Brasil

    OpenAIRE

    Denisard Alves; Walter Belluzzo

    2005-01-01

    (Disponible en idioma inglés únicamente) La salud infantil es un aspecto fundamental del programa de políticas públicas de los países en desarrollo. A lo largo de los años se han puesto en práctica numerosas políticas destinadas al mejoramiento de la salud infantil, con diversos grados de éxito. En Brasil, dichas políticas han llevado a una disminución considerable de los niveles de mortalidad infantil durante los últimos 30 años. Sin embargo, a pesar de esa mejora, las tasas de mortalidad si...

  10. Birth Weight, Gestational Age, and Infantile Colic

    DEFF Research Database (Denmark)

    Milidou, Ioanna; Søndregaard, Charlotte; Jensen, Morten Søndergaard

    Background Infantile colic is a condition of unknown origin characterized by paroxysms of crying during the first months of life. A few studies have identified low birth weight (BW) as a risk factor among infants born at term, while the association between gestational age (GA) and infantile colic...... interviews of the mother during pregnancy and post partum. Adjusted odds ratios (OR) with 95% confidence intervals (in brackets) are presented. Infantile colic was defined as crying for more than three hours per day and for more than three days per week (modified Wessel’s criteria). Results A total of 4...... with GA gestational weeks 32-40. Finally, after adjusting for GA...

  11. Iceberg Harmonic Tremor, Seismometer Data, Antarctica, Version 1

    Data.gov (United States)

    National Aeronautics and Space Administration — Seismometers were placed on a 25 km by 50 km iceberg called C16 in the Ross Sea, Antarctica, to identify the Iceberg harmonic Tremor (IHT) source mechanism and to...

  12. Palatal tremor after lithium and carbamazepine use: a case report

    Directory of Open Access Journals (Sweden)

    Kuruvilla Anju

    2010-06-01

    Full Text Available Abstract Introduction Palatal tremor, characterized by rhythmic contractions of the soft palate, can occur secondary to pathology in the dentato-rubro-olivary pathway, or in the absence of such structural lesions. Its pathogenesis is only partially understood. We describe a case of probable drug-induced palatal tremor. Case presentation A 27-year-old Indian man had taken carbamazepine and lithium for 7 years for the treatment of a manic episode. He presented with a one-year history of bilateral rhythmic oscillations of his soft palate and tremors of his tongue. There were no other abnormalities detected from his examination or after detailed investigation. Conclusion Palatal tremors may result from medication used in the treatment of psychiatric disorders.

  13. Evaluation of a screening instrument for essential tremor

    DEFF Research Database (Denmark)

    Lorenz, Delia; Papengut, Frank; Frederiksen, Henrik

    2008-01-01

    To evaluate a screening instrument for essential tremor (ET) consisting of a seven-item questionnaire and a spiral drawing. A total of 2,448 Danish twins aged 70 years or more and a second sample aged 60 years or more (n = 1,684) from a population-based northern German cross-sectional study (Pop....... Definite or probable ET was diagnosed in 104 patients, possible in 86 and other tremors in 98 patients. The sensitivity of the screening instrument was 70.5%, the positive predictive value was 64.9%, the specificity was 68.2%, and the negative predictive value was 73.5%. Tremor severity correlated...... significantly with higher spiral scores and more positive items. More patients were identified by spiral drawing in all tremor groups. The interrater and intrarater reliability for spirals ranged from 0.7 to 0.8 using intraclass coefficient. A cluster analysis revealed that the questionnaire can be reduced...

  14. Cortical tremor: a variant of cortical reflex myoclonus.

    Science.gov (United States)

    Ikeda, A; Kakigi, R; Funai, N; Neshige, R; Kuroda, Y; Shibasaki, H

    1990-10-01

    Two patients with action tremor that was thought to originate in the cerebral cortex showed fine shivering-like finger twitching provoked mainly by action and posture. Surface EMG showed relatively rhythmic discharge at a rate of about 9 Hz, which resembled essential tremor. However, electrophysiologic studies revealed giant somatosensory evoked potentials (SEPs) with enhanced long-loop reflex and premovement cortical spike by the jerk-locked averaging method. Treatment with beta-blocker showed no effect, but anticonvulsants such as clonazepam, valproate, and primidone were effective to suppress the tremor and the amplitude of SEPs. We call this involuntary movement "cortical tremor," which is in fact a variant of cortical reflex myoclonus.

  15. Surface-wave potential for triggering tectonic (nonvolcanic) tremor

    Science.gov (United States)

    Hill, D.P.

    2010-01-01

    Source processes commonly posed to explain instances of remote dynamic triggering of tectonic (nonvolcanic) tremor by surface waves include frictional failure and various modes of fluid activation. The relative potential for Love- and Rayleigh-wave dynamic stresses to trigger tectonic tremor through failure on critically stressed thrust and vertical strike-slip faults under the Coulomb-Griffith failure criteria as a function of incidence angle is anticorrelated over the 15- to 30-km-depth range that hosts tectonic tremor. Love-wave potential is high for strike-parallel incidence on low-angle reverse faults and null for strike-normal incidence; the opposite holds for Rayleigh waves. Love-wave potential is high for both strike-parallel and strike-normal incidence on vertical, strike-slip faults and minimal for ~45?? incidence angles. The opposite holds for Rayleigh waves. This pattern is consistent with documented instances of tremor triggered by Love waves incident on the Cascadia mega-thrust and the San Andreas fault (SAF) in central California resulting from shear failure on weak faults (apparent friction, ????? 0.2). However, documented instances of tremor triggered by surface waves with strike-parallel incidence along the Nankai megathrust beneath Shikoku, Japan, is associated primarily with Rayleigh waves. This is consistent with the tremor bursts resulting from mixed-mode failure (crack opening and shear failure) facilitated by near-lithostatic ambient pore pressure, low differential stress, with a moderate friction coefficient (?? ~ 0.6) on the Nankai subduction interface. Rayleigh-wave dilatational stress is relatively weak at tectonic tremor source depths and seems unlikely to contribute significantly to the triggering process, except perhaps for an indirect role on the SAF in sustaining tremor into the Rayleigh-wave coda that was initially triggered by Love waves.

  16. Seismic tremors and magma wagging during explosive volcanism.

    Science.gov (United States)

    Jellinek, A Mark; Bercovici, David

    2011-02-24

    Volcanic tremor is a ubiquitous feature of explosive eruptions. This oscillation persists for minutes to weeks and is characterized by a remarkably narrow band of frequencies from about 0.5 Hz to 7 Hz (refs 1-4). Before major eruptions, tremor can occur in concert with increased gas flux and related ground deformation. Volcanic tremor is thus of particular value for eruption forecasting. Most models for volcanic tremor rely on specific properties of the geometry, structure and constitution of volcanic conduits as well as the gas content of the erupting magma. Because neither the initial structure nor the evolution of the magma-conduit system will be the same from one volcano to the next, it is surprising that tremor characteristics are so consistent among different volcanoes. Indeed, this universality of tremor properties remains a major enigma. Here we employ the contemporary view that silicic magma rises in the conduit as a columnar plug surrounded by a highly vesicular annulus of sheared bubbles. We demonstrate that, for most geologically relevant conditions, the magma column will oscillate or 'wag' against the restoring 'gas-spring' force of the annulus at observed tremor frequencies. In contrast to previous models, the magma-wagging oscillation is relatively insensitive to the conduit structure and geometry, which explains the narrow band of tremor frequencies observed around the world. Moreover, the model predicts that as an eruption proceeds there will be an upward drift in both the maximum frequency and the total signal frequency bandwidth, the nature of which depends on the explosivity of the eruption, as is often observed.

  17. Tremor cells in the human thalamus: differences among neurological disorders.

    Science.gov (United States)

    Brodkey, Jason A; Tasker, Ronald R; Hamani, Clement; McAndrews, Mary Pat; Dostrovsky, Jonathan O; Lozano, Andres M

    2004-07-01

    Thalamic neurons firing at frequencies synchronous with tremor are thought to play a critical role in the generation and maintenance of tremor. The authors studied the incidence and locations of neurons with tremor-related activity (TRA) in the thalamus of patients with varied pathological conditions-including Parkinson disease (PD), essential tremor (ET), multiple sclerosis (MS), and cerebellar disorders--to determine whether known differences in the effectiveness of thalamic stereotactic procedures for these tremors could be correlated to differences in the incidence or locations of TRA cells. Seventy-five operations were performed in 61 patients during which 686 TRA cells were recorded from 440 microelectrode trajectories in the thalamus. The locations of the TRA cells in relation to electrophysiologically defined thalamic nuclei and the commissural coordinates were compared among patient groups. The authors found that TRA cells are present in patients with each of these disorders and that these cells populate several nuclei in the ventral lateral tier of the thalamus. There were no large differences in the locations of TRA cells among the different diagnostic classes, although there was a difference in the incidence of TRA cells in patients with PD, who had greater than 3.8 times more cells per thalamic trajectory than patients with ET and approximately five times more cells than patients with MS or cerebellar disorders. There was an increased incidence of TRA in the thalamus of patients with PD. The location of thalamic TRA cells in patients with basal ganglia and other tremor disorders was similar.

  18. Gorlin-Goltz syndrome:

    OpenAIRE

    Binić, Ivana; Jovanović, Dragan L.; Ljubenović, Dragiša; Ljubenović, Milanka; Stanojević, Milenko

    2007-01-01

    Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region.

  19. Cerebral causes and consequences of parkinsonian resting tremor: a tale of two circuits?

    Science.gov (United States)

    Hallett, Mark; Deuschl, Günther; Toni, Ivan; Bloem, Bastiaan R.

    2012-01-01

    Tremor in Parkinson's disease has several mysterious features. Clinically, tremor is seen in only three out of four patients with Parkinson's disease, and tremor-dominant patients generally follow a more benign disease course than non-tremor patients. Pathophysiologically, tremor is linked to altered activity in not one, but two distinct circuits: the basal ganglia, which are primarily affected by dopamine depletion in Parkinson's disease, and the cerebello-thalamo-cortical circuit, which is also involved in many other tremors. The purpose of this review is to integrate these clinical and pathophysiological features of tremor in Parkinson's disease. We first describe clinical and pathological differences between tremor-dominant and non-tremor Parkinson's disease subtypes, and then summarize recent studies on the pathophysiology of tremor. We also discuss a newly proposed ‘dimmer-switch model’ that explains tremor as resulting from the combined actions of two circuits: the basal ganglia that trigger tremor episodes and the cerebello-thalamo-cortical circuit that produces the tremor. Finally, we address several important open questions: why resting tremor stops during voluntary movements, why it has a variable response to dopaminergic treatment, why it indicates a benign Parkinson's disease subtype and why its expression decreases with disease progression. PMID:22382359

  20. [Assessment of anti-tremorogenic drugs--nicotine-induced tail-tremor model].

    Science.gov (United States)

    Suemaru, K; Kawasaki, H; Gomita, Y

    1997-06-01

    The repeated administration of nicotine at small doses, which do not produce whole body tremor or convulsion, causes tremor only in the tail (tail-tremor) of rats. The tremor is accompanied by locomotor hyperactivity without rigidity and immobility of the whole body, suggesting that the nicotine-induced tail-tremor model is useful for studying the mechanism underlying tremor associated with movement. The tail-tremor induced by nicotine was suppressed by mecamylamine, a nicotinic antagonist, but not by atropine or scopolamine, muscalinic antagonists. Moreover, the tail-tremor was suppressed by the beta-blockers propranolol and pindolol, as well as the benzodiazepines diazepam and clonazepam. Tremor at rest is observed only in Parkinson's disease, which is improved with anti-muscalinic drugs. Essential tremor is one of the typical tremors connected with movement (postural and kinetic tremor) and is improved with beta-blocker. These findings and results suggest that nicotine-induced tail-tremor is useful for the study of essential tremor in animal models.

  1. Optimal diagnostic strategy for infantile cholestasis in pediatric surgery

    International Nuclear Information System (INIS)

    Kato, Hisataka; Fumino, Shigehisa; Furukawa, Taizo; Ono, Shigeru; Kimura, Osamu; Deguchi, Eiichi; Iwai, Naomi

    2011-01-01

    The initial goal in treatment for infantile cholestasis is to exclude surgical cholestasis, especially biliary atresia (BA). In this study, we retrospectively reviewed the diagnostic course of infantile cholestasis. Between 2000 and 2009, a total of 44 infants with cholestasis were referred to our department. The median age at admission was 54 days (range: 0-143 days). The medical charts of these infants were reviewed. The initial diagnostic approach was ultrasonography followed by the qualitative detection of bilirubin in stool. The 35 infants with acholic stool and/or a small or absent gallbladder on ultrasonography were subsequently examined by hepatobiliary scintigraphy (HBS). Twenty-nine infants with negative scintigraphy findings underwent intraoperative cholangiography (lOC), and BA was finally confirmed in 24 of 44. A choledochal cyst was noted in 2, Alagille syndrome in 2, cytomegalovirus infection in 2, panhypopituitarism in 2, multiple hemangiomas of the liver in 1, and cholecystolithiasis in 1. The remaining 10 infants were diagnosed as having neonatal hepatitis. The sensitivity and specificity of HBS for BA were 100% and 54.5%, respectively. HBS is a useful modality for detection of BA with a sensitivity of 100%. The indication for IOC should depend on these scan results. (author)

  2. Discrimination of Parkinsonian Tremor From Essential Tremor by Voting Between Different EMG Signal Processing Techniques

    Directory of Open Access Journals (Sweden)

    A Hossen

    2014-06-01

    Full Text Available Parkinson's disease (PD and essential tremor (ET are the two most common disorders that cause involuntary muscle shaking movements, or what is called "tremor”. PD is a neurodegenerative disease caused by the loss of dopamine receptors which control and adjust the movement of the body. On the other hand, ET is a neurological movement disorder which also causes tremors and shaking, but it is not related to dopamine receptor loss; it is simply a tremor. The differential diagnosis between these two disorders is sometimes difficult to make clinically because of the similarities of their symptoms; additionally, the available tests are complex and expensive. Thus, the objective of this paper is to discriminate between these two disorders with simpler, cheaper and easier ways by using electromyography (EMG signal processing techniques. EMG and accelerometer records of 39 patients with PD and 41 with ET were acquired from the Hospital of Kiel University in Germany and divided into a trial group and a test group. Three main techniques were applied: the wavelet-based soft-decision technique, statistical signal characterization (SSC of the spectrum of the signal, and SSC of the amplitude variation of the Hilbert transform. The first technique resulted in a discrimination efficiency of 80% on the trial set and 85% on the test set. The second technique resulted in an efficiency of 90% on the trial set and 82.5% on the test set. The third technique resulted in an 87.5% efficiency on the trial set and 65.5% efficiency on the test set. Lastly, a final vote was done to finalize the discrimination using these three techniques, and as a result of the vote, accuracies of 92.5%, 85.0% and 88.75% were obtained on the trial data, test data and total data, respectively.

  3. Adult Phenotypes in Angelman- and Rett-Like Syndromes.

    NARCIS (Netherlands)

    Willemsen, M.H.; Rensen, J.H.; Schrojenstein Lantman-de Valk, H.M. van; Hamel, B.C.J.; Kleefstra, T.

    2012-01-01

    BACKGROUND: Angelman- and Rett-like syndromes share a range of clinical characteristics, including intellectual disability (ID) with or without regression, epilepsy, infantile encephalopathy, postnatal microcephaly, features of autism spectrum disorder, and variable other neurological symptoms. The

  4. Square biphasic pulse deep brain stimulation for essential tremor: The BiP tremor study.

    Science.gov (United States)

    De Jesus, Sol; Almeida, Leonardo; Shahgholi, Leili; Martinez-Ramirez, Daniel; Roper, Jaimie; Hass, Chris J; Akbar, Umer; Wagle Shukla, Aparna; Raike, Robert S; Okun, Michael S

    2018-01-01

    Conventional deep brain stimulation (DBS) utilizes regular, high frequency pulses to treat medication-refractory symptoms in essential tremor (ET). Modifications of DBS pulse shape to achieve improved effectiveness is a promising approach. The current study assessed the safety, tolerability and effectiveness of square biphasic pulse shaping as an alternative to conventional ET DBS. This pilot study compared biphasic pulses (BiP) versus conventional DBS pulses (ClinDBS). Eleven ET subjects with clinically optimized ventralis intermedius nucleus DBS were enrolled. Objective measures were obtained over 3 h while ON BiP stimulation. There was observed benefit in the Fahn-Tolosa Tremor Rating Scale (TRS) for BiP conditions when compared to the DBS off condition and to ClinDBS setting. Total TRS scores during the DBS OFF condition (28.5 IQR = 24.5-35.25) were significantly higher than the other time points. Following active DBS, TRS improved to (20 IQR = 13.8-24.3) at ClinDBS setting and to (16.5 IQR = 12-20.75) at the 3 h period ON BiP stimulation (p = 0.001). Accelerometer recordings revealed improvement in tremor at rest (χ 2  = 16.1, p = 0.006), posture (χ 2  = 15.9, p = 0.007) and with action (χ 2  = 32.1, p=<0.001) when comparing median total scores at ClinDBS and OFF DBS conditions to 3 h ON BiP stimulation. There were no adverse effects and gait was not impacted. BiP was safe, tolerable and effective on the tremor symptoms when tested up to 3 h. This study demonstrated the feasibility of applying a novel DBS waveform in the clinic setting. Larger prospective studies with longer clinical follow-up will be required. Copyright © 2017. Published by Elsevier Ltd.

  5. Tremor, the curious third wheel of fault motion (Invited)

    Science.gov (United States)

    Vidale, J. E.

    2009-12-01

    The known universe of tectonic fault behavior has gained a new neighborhood in the last few years. Before, faults were considered to either conform to the reasonably well-understood earthquake cycle or else slide steadily. In the earthquake cycle, a fault stays locked for the years while stress is accumulating, then cracks and slides, releasing about 0.1-10 MPa of the stress on the fault. The crack spreads across the fault at roughly the shear wave velocity, kilometers per second. Sliding across the crack occurs at rates on the order of a meter per second. Deeper than the locked portion, faults were assumed to move stealthily and steadily. Disrupting this orderly bipartite universe has been tremor - a prolonged, noise-like, 1-10 Hz rumbling that has been spotted below the locked portion of a variety of faults. In subduction zones, often tremor is coincident with slow and low-stress-drop slip that takes many orders of magnitude longer to complete than garden-variety earthquakes, with the rupture progression estimated in km per day rather than per second. The so-called episodic tremor and slip (ETS) is seen to strike at much more regular intervals than old-fashioned quakes. Speculation and disjoint observations abound. Probably the observations represent just the most easily observed portions of a process that moves with power at all frequencies. The spectrum of tremor radiation is less “red” than that of earthquakes for periods shorter than their duration. Near-lithostatic pore pressure may play an important role in lubricating ETS activity. ETS activity appears generally restricted to only some major faults. Strong passing surface waves from distant great earthquakes trigger pulsations of tremor. Strong nearby earthquakes can cause weeks of stronger than normal tremor. The ebb and flow of diurnal tides cause a rise and fall in tremor amplitude. Tremor can contain earthquake-like short bursts of energy, even dozens of discrete pops, all with the less red spectra

  6. Time-Reversal Study of the Hemet (CA) Tremor Source

    Science.gov (United States)

    Larmat, C. S.; Johnson, P. A.; Guyer, R. A.

    2010-12-01

    Since its first observation by Nadeau & Dolenc (2005) and Gomberg et al. (2008), tremor along the San Andreas fault system is thought to be a probe into the frictional state of the deep part of the fault (e.g. Shelly et al., 2007). Tremor is associated with slow, otherwise deep, aseismic slip events that may be triggered by faint signals such as passing waves from remote earthquakes or solid Earth tides.Well resolved tremor source location is key to constrain frictional models of the fault. However, tremor source location is challenging because of the high-frequency and highly-scattered nature of tremor signal characterized by the lack of isolated phase arrivals. Time Reversal (TR) methods are emerging as a useful tool for location. The unique requirement is a good velocity model for the different time-reversed phases to arrive coherently onto the source point. We present results of location for a tremor source near the town of Hemet, CA, which was triggered by the 2002 M 7.9 Denali Fault earthquake (Gomberg et al., 2008) and by the 2009 M 6.9 Gulf of California earthquake. We performed TR in a volume model of 88 (N-S) x 70 (W-E) x 60 km (Z) using the full-wave 3D wave-propagation package SPECFEM3D (Komatitsch et al., 2002). The results for the 2009 episode indicate a deep source (at about 22km) which is about 4km SW the fault surface scarp. We perform STA/SLA and correlation analysis in order to have independent confirmation of the Hemet tremor source. We gratefully acknowledge the support of the U. S. Department of Energy through the LANL/LDRD Program for this work.

  7. The occurrence of dystonia in upper-limb multiple sclerosis tremor.

    Science.gov (United States)

    Van der Walt, A; Buzzard, K; Sung, S; Spelman, T; Kolbe, S C; Marriott, M; Butzkueven, H; Evans, A

    2015-12-01

    The pathophysiology of multiple sclerosis (MS) tremor is uncertain with limited phenotypical studies available. To investigate whether dystonia contributes to MS tremor and its severity. MS patients (n = 54) with and without disabling uni- or bilateral upper limb tremor were recruited (39 limbs per group). We rated tremor severity, writing and Archimedes spiral drawing; cerebellar dysfunction (SARA score); the Global Dystonia Scale (GDS) for proximal and distal upper limbs, dystonic posturing, mirror movements, geste antagoniste, and writer's cramp. Geste antagoniste, mirror dystonia, and dystonic posturing were more frequent and severe (p tremor severity in tremor compared to non-tremor patients. A 1-unit increase in distal dystonia predicted a 0.52-Bain unit (95% confidence interval (CI) 0.08-0.97), p = 0.022) increase in tremor severity and a 1-unit (95% CI 0.48-1.6, p = 0.001) increase in drawing scores. A 1-unit increase in proximal dystonia predicted 0.93-Bain unit increase (95% CI 0.45-1.41, p tremor severity and 1.5-units (95% CI 0.62-2.41, p = 0.002) increase in the drawing score. Cerebellar function in the tremor limb and tremor severity was correlated (p tremor suggesting that MS tremor pathophysiology involves cerebello-pallido-thalamo-cortical network dysfunction. © The Author(s), 2015.

  8. Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice

    Science.gov (United States)

    Anderson, Sarah R.; Lee, Inyoul; Ebeling, Christine; Stephenson, Dennis A.; Schweitzer, Kelsey M.; Baxter, David; Moon, Tara M.; LaPierre, Sarah; Jaques, Benjamin; Silvius, Derek; Wegner, Michael; Hood, Leroy E.; Carlson, George; Gunn, Teresa M.

    2014-01-01

    Mice homozygous for the gray tremor (gt) mutation have a pleiotropic phenotype that includes pigmentation defects, megacolon, whole body tremors, sporadic seizures, hypo- and dysmyelination of the CNS and PNS, vacuolation of the CNS, and early death. Vacuolation similar to that caused by prions was originally reported to be transmissible, but subsequent studies showed the inherited disease was not infectious. The gt mutation mapped to distal mouse chromosome 15, to the same region as Sox10, which encodes a transcription factor with essential roles in neural crest survival and differentiation. As dominant mutations in mouse or human SOX10 cause white spotting and intestinal aganglionosis, we screened the Sox10 coding region for mutations in gt/gt DNA. An adenosine to guanine transversion was identified in exon 2 that changes a highly conserved glutamic acid residue in the SOX10 DNA binding domain to glycine. This mutant allele was not seen in wildtype mice, including the related GT/Le strain, and failed to complement a Sox10 null allele. Gene expression analysis revealed significant down-regulation of genes involved in myelin lipid biosynthesis pathways in gt/gt brains. Knockout mice for some of these genes develop CNS vacuolation and/or myelination defects, suggesting that their down-regulation may contribute to these phenotypes in gt mutants and could underlie the neurological phenotypes associated with Peripheral demyelinating neuropathy-Central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung (PCWH) disease, caused by mutations in human SOX10. PMID:25399070

  9. Neonatal hypoglycemic brain injury is a cause of infantile spasms

    OpenAIRE

    YANG, GUANG; ZOU, LI-PING; WANG, JING; SHI, XIUYU; TIAN, SHUPING; YANG, XIAOFAN; JU, JUN; YAO, HONGXIANG; LIU, YUJIE

    2016-01-01

    Neonatal hypoglycemic brain injury is one of the causes of infantile spasms. In the present study, the clinical history and auxiliary examination results of 18 patients who developed infantile spasms several months after neonatal hypoglycemia were retrospectively analyzed. Among the 666 patients with infantile spasms admitted to two pediatric centers between January 2008 and October 2012, 18 patients developed infantile spasms after being diagnosed with neonatal hypoglycemia, defined as a who...

  10. Beta-blocker therapy for tremor in Parkinson's disease.

    Science.gov (United States)

    Crosby, N J; Deane, K H O; Clarke, C E

    2003-01-01

    The tremor of Parkinson's disease can cause considerable disability for the individual concerned. Traditional antiparkinsonian therapies such as levodopa have only a minor effect on tremor. Beta-blockers are used to attenuate other forms of tremor such as Essential Tremor or the tremor associated with anxiety. It is thought that beta-blockers may be of use in controlling the tremor of Parkinson's disease. To compare the efficacy and safety of adjuvant beta-blocker therapy against placebo for the treatment of tremor in patients with Parkinson's disease. Electronic searches of MEDLINE, EMBASE, SCISEARCH, BIOSIS, GEROLIT, OLDMEDLINE, LILACS, MedCarib, PASCAL, JICST-EPLUS, RUSSMED, DISSERTATION ABSTRACTS, SIGLE, ISI-ISTP, Aslib Index to Theses, The Cochrane Controlled Trials Register, Clinicaltrials.gov, metaRegister of Controlled Trials, NIDRR, NRR and CENTRAL were conducted. Grey literature was hand searched and the reference lists of identified studies and reviews examined. The manufacturers of beta-blockers were contacted. Randomised controlled trials of adjuvant beta-blocker therapy versus placebo in patients with a clinical diagnosis of idiopathic Parkinson's disease. Data was abstracted independently by two of the authors onto standardised forms and disagreements were resolved by discussion. Four randomised controlled trials were found comparing beta-blocker therapy with placebo in patients with idiopathic Parkinson's disease. These were double-blind cross-over studies involving a total of 72 patients. Three studies did not present data from the first arm, instead presenting results as combined data from both treatment arms and both placebo arms. The risk of a carry-over effect into the second arm meant that these results were not analysed. The fourth study presented data from each arm. This was in the form of a mean total score for tremor for each group. Details of the baseline scores, the numbers of patients in each group and standard deviations were not

  11. Annual modulation of non-volcanic tremor in northern Cascadia

    Science.gov (United States)

    Pollitz, Fred; Wech, Aaron G.; Kao, Honn; Burgmann, Roland

    2013-01-01

    Two catalogs of episodic tremor events in northern Cascadia, one from 2006 to 2012 and the other from 1997 to 2011, reveal two systematic patterns of tremor occurrence in southern Vancouver Island: (1) most individual events tend to occur in the third quarter of the year; (2) the number of events in prolonged episodes (i.e., episodic tremor and slip events), which generally propagate to Vancouver Island from elsewhere along the Cascadia subduction zone, is inversely correlated with the amount of precipitation that occurred in the preceding 2 months. We rationalize these patterns as the product of hydrologic loading of the crust of southern Vancouver Island and the surrounding continental region, superimposed with annual variations from oceanic tidal loading. Loading of the Vancouver Island crust in the winter (when the land surface receives ample precipitation) and unloading in the summer tends to inhibit and enhance downdip shear stress, respectively. Quantitatively, for an annually variable surface load, the predicted stress perturbation depends on mantle viscoelastic rheology. A mechanical model of downdip shear stress on the transition zone beneath Vancouver Island—driven predominantly by the annual hydrologic cycle—is consistent with the 1997–2012 tremor observations, with peak-to-peak downdip shear stress of about 0.4 kPa. This seasonal dependence of tremor occurrence appears to be restricted to southern Vancouver Island because of its unique situation as an elongated narrow-width land mass surrounded by ocean, which permits seasonal perturbations in shear stress at depth.

  12. [A Case of Psychogenic Tremor during Awake Craniotomy].

    Science.gov (United States)

    Kujirai, Kazumasa; Kamata, Kotoe; Uno, Toshihiro; Hamada, Keiko; Ozaki, Makoto

    2016-01-01

    A 31-year-old woman with a left frontal and parietal brain tumor underwent awake craniotomy. Propofol/remifentanil general anesthesia was induced. Following craniotomy, anesthetic administrations ceased. The level of consciousness was sufficient and she was not agitated. However, the patient complained of nausea 70 minutes into the awake phase. Considering the adverse effects of antiemetics and the upcoming surgical strategy, we did not give any medications. Nausea disappeared spontaneously while the operation was suspended. When surgical intervention extended to the left caudate nucleus, involuntary movement, classified as a tremor, with 5-6 Hz frequency, abruptly occurred on her left forearm. The patient showed emotional distress. Tremor appeared on her right forearm and subsequently spread to her lower extremities. Intravenous midazolam and fentanyl could not reduce her psychological stress. Since the tremor disturbed microscopic observation, general anesthesia was induced. Consequently, the tremor disappeared and did not recur. Based on the anatomical ground and the medication status, her involuntary movement was diagnosed as psychogenic tremor. Various factors can induce involuntary movements. In fact, intraoperative management of nausea and vomiting takes priority during awake craniotomy, but we should be reminded that some antiemetics potentially induce involuntary movement that could be caused by surgery around basal ganglia.

  13. Linking Essential Tremor to the Cerebellum: Clinical Evidence.

    Science.gov (United States)

    Benito-León, Julián; Labiano-Fontcuberta, Andrés

    2016-06-01

    Essential tremor (ET) might be a family of diseases unified by the presence of kinetic tremor, but also showing etiological, pathological, and clinical heterogeneity. In this review, we will describe the most significant clinical evidence, which suggests that ET is linked to the cerebellum. Data for this review were identified by searching PUBMED (January 1966 to May 2015) crossing the terms "essential tremor" (ET) and "cerebellum," which yielded 201 entries, 11 of which included the term "cerebellum" in the article title. This was supplemented by articles in the author's files that pertained to this topic. The wide spectrum of clinical features of ET that suggest that it originates as a cerebellar or cerebellar outflow problem include the presence of intentional tremor, gait and balance abnormalities, subtle features of dysarthria, and oculomotor abnormalities, as well as deficits in eye-hand coordination, motor learning deficits, incoordination during spiral drawing task, abnormalities in motor timing and visual reaction time, impairment of social abilities, improvement in tremor after cerebellar stroke, efficacy of deep brain stimulation (which blocks cerebellar outflow), and cognitive dysfunction. It is unlikely, however, that cerebellar dysfunction, per se, fully explains ET-associated dementia, because the cognitive deficits that have been described in patients with cerebellar lesions are generally mild. Overall, a variety of clinical findings suggest that in at least a sizable proportion of patients with ET, there is an underlying abnormality of the cerebellum and/or its pathways.

  14. Trabajo infantil e inasistencia escolar

    Directory of Open Access Journals (Sweden)

    Antonio Sandoval Ávila

    2007-01-01

    Full Text Available Trabajo infantil e inasistencia escolar El capitalismo neoliberal ha generalizado la pobreza que obliga a muchas familias a recurrir al trabajo de los hijos para poder subsistir. Por el trabajo, los menores desertan de la escuela. Cuando adultos, por la pérdida en educación, sólo podrán acceder a las ocupaciones de menor calificación y peor pagadas. Por ello, tienen muchas probabilidades de ser los futuros padres de nuevos niños trabajadores reproduciendo intergeneracionalmente la pobreza. La educación es el primer paso para romper el círculo de la pobreza; hay relación entre los niveles de educación y las remuneraciones que las ersonas pueden alcanzar. El desarrollo descansa en el acelerado cambio tecnológico que no es más que el conocimiento científico aplicado a la producción. Crear conocimiento supone educación superior, y en la base de ésta está la educación básica, que es el cimiento de cualquier modelo de desarrollo que aspire a la equidad. No educar a los menores significa desperdiciar la formación de capital humano, ello traba el desarrollo nacional. Sin educación no habrá capital humano calificado como motor básico de la productividad y la competitividad.

  15. Infantile onset diabetes mellitus in developing countries - India

    Science.gov (United States)

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  16. Blood harmane, blood lead, and severity of hand tremor: evidence of additive effects.

    Science.gov (United States)

    Louis, Elan D; Factor-Litvak, Pam; Gerbin, Marina; Slavkovich, Vesna; Graziano, Joseph H; Jiang, Wendy; Zheng, Wei

    2011-03-01

    Tremor is a widespread phenomenon in human populations. Environmental factors are likely to play an etiological role. Harmane (1-methyl-9H-pyrido[3,4-β]indole) is a potent tremor-producing β-carboline alkaloid. Lead is another tremor-producing neurotoxicant. The effects of harmane and lead with respect to tremor have been studied in isolation. We tested the hypothesis that tremor would be particularly severe among individuals who had high blood concentrations of both of these toxicants. Blood concentrations of harmane and lead were each quantified in 257 individuals (106 essential tremor cases and 151 controls) enrolled in an environmental epidemiological study. Total tremor score (range = 0-36) was a clinical measure of tremor severity. The total tremor score ranged from 0 to 36, indicating that a full spectrum of tremor severities was captured in our sample. Blood harmane concentration correlated with total tremor score (p = 0.007), as did blood lead concentration (p = 0.045). The total tremor score was lowest in participants with both low blood harmane and lead concentrations (8.4 ± 8.2), intermediate in participants with high concentrations of either toxicant (10.5 ± 9.8), and highest in participants with high concentrations of both toxicants (13.7 ± 10.4) (p=0.01). Blood harmane and lead concentrations separately correlated with total tremor scores. Participants with high blood concentrations of both toxicants had the highest tremor scores, suggesting an additive effect of these toxicants on tremor severity. Given the very high population prevalence of tremor disorders, identifying environmental determinants is important for primary disease prevention. Copyright © 2010 Elsevier Inc. All rights reserved.

  17. Savant Syndrome: Realities, Myths and Misconceptions

    Science.gov (United States)

    Treffert, Darold A.

    2014-01-01

    It was 126 years ago that Down first described savant syndrome as a specific condition and 70 years ago that Kanner first described Early Infantile Autism. While as many as one in ten autistic persons have savant abilities, such special skills occur in other CNS conditions as well such that approximately 50% of cases of savant syndrome have autism…

  18. Brainstem evoked potentials in infantile spasms

    International Nuclear Information System (INIS)

    Miyazaki, Masahito; Hashimoto, Toshiaki; Murakawa, Kazuyoshi; Tayama, Masanobu; Kuroda, Yasuhiro

    1992-01-01

    In ten patients with infantile spasms, brainstem evoked potentials and MRI examinations were performed to evaluate the brainstem involvement. The result of short latency somatosensory evoked potentials (SSEP) following the right median nerve stimulation revealed abnormal findings including the absence or low amplitudes of the waves below wave P3 and delayed central conduction time in 7 of the ten patients. The result of auditory brainstem responses (ABR) revealed abnormal findings including low amplitudes of wave V, prolonged interpeak latency of waves I-V and absence of the waves below wave IV in 5 of the ten patients. The result of the MRI examinations revealed various degrees of the brainstem atrophy in 6 of the ten patients, all of whom showed abnormal brainstem evoked potentials. The result of this study demonstrates that patients with infantile spasms are frequently associated with brainstem dysfunction and raises the possibility that brainstem atrophy might be a cause of infantile spasms. (author)

  19. Dynamic Variability of Isometric Action Tremor in Precision Pinching

    Directory of Open Access Journals (Sweden)

    Tim Eakin

    2012-01-01

    Full Text Available Evolutionary development of isometric force impulse frequencies, power, and the directional concordance of changes in oscillatory tremor during performance of a two-digit force regulation task was examined. Analyses compared a patient group having tremor confounding volitional force regulation with a control group having no neuropathological diagnosis. Dependent variables for tremor varied temporally and spatially, both within individual trials and across trials, across individuals, across groups, and between digits. Particularly striking findings were magnitude increases during approaches to cue markers and shifts in the concordance phase from pinching toward rigid sway patterns as the magnitude increased. Magnitudes were significantly different among trace line segments of the task and were characterized by differences in relative force required and by the task progress with respect to cue markers for beginning, reversing force change direction, or task termination. The main systematic differences occurred during cue marker approach and were independent of trial sequence order.

  20. Essential Palatal Tremor Managed by Cognitive Behavioral Therapy

    Directory of Open Access Journals (Sweden)

    Tomohisa Kitamura

    2015-01-01

    Full Text Available Background. Essential palatal tremor is a disorder of unknown etiology involving involuntary movement of the uvula and soft palate. Treatment attempts including drugs or surgery have been conducted to cease the rhythmical movement. Case Report. A 55-year-old female visited our department complaining of a sudden, noticeable, intermittent, and rhythmical clicking noise in her throat for five years. Oral examination revealed rhythmical contractions of the soft palate with clicking at the frequency of 120 per min. Magnetic resonance imaging (MRI examination of the brain performed after consulting with the department of neuropathic internal medicine showed no abnormalities. Thus, essential palatal tremor was diagnosed. The symptoms improved with cognitive behavioral therapy without drugs or surgical treatments. The patient is now able to stop the rhythmical movement voluntarily. Discussion. Cognitive behavioral therapy might be suitable as first-line therapy for essential palatal tremor because the therapy is noninvasive.

  1. Subglacial discharge at tidewater glaciers revealed by seismic tremor

    Science.gov (United States)

    Bartholomaus, Timothy C.; Amundson, Jason M.; Walter, Jacob I.; O'Neel, Shad; West, Michael E.; Larsen, Christopher F.

    2015-01-01

    Subglacial discharge influences glacier basal motion and erodes and redeposits sediment. At tidewater glacier termini, discharge drives submarine terminus melting, affects fjord circulation, and is a central component of proglacial marine ecosystems. However, our present inability to track subglacial discharge and its variability significantly hinders our understanding of these processes. Here we report observations of hourly to seasonal variations in 1.5–10 Hz seismic tremor that strongly correlate with subglacial discharge but not with basal motion, weather, or discrete icequakes. Our data demonstrate that vigorous discharge occurs from tidewater glaciers during summer, in spite of fast basal motion that could limit the formation of subglacial conduits, and then abates during winter. Furthermore, tremor observations and a melt model demonstrate that drainage efficiency of tidewater glaciers evolves seasonally. Glaciohydraulic tremor provides a means by which to quantify subglacial discharge variations and offers a promising window into otherwise obscured glacierized environments.

  2. Treatment of essential and parkinsonian tremor with nipradilol.

    Science.gov (United States)

    Yoshii, F; Shinohara, Y; Takeoka, T; Kitagawa, Y; Akiyama, K; Yazaki, K

    1996-11-01

    Nipradilol is a new type of beta-blocker which possesses nitroglycerin-like vasodilating action in addition to beta-blocking action. We investigated the efficacy and safety of nipradilol for treating tremor in 20 patients with essential tremor (ET group) and 20 patients with Parkinson's disease (PD group). All patients received nipradilol (6 mg per day) for more than 8 weeks. Improvement of tremor appeared within 2 or 4 weeks after the start of nipradilol therapy, and the efficacy rate, defined as "moderately effective" or over, was 42.5% in all 40 patients, while that defined as "slightly effective" or over was 87.5%. The efficacy rate tended to be higher in the ET group compared with the PD group. Mean blood pressure was significantly decreased from the 4th week after the start of treatment and heart rate was significantly reduced from the 2nd week of treatment. Laboratory examination showed no significant changes.

  3. Atenolol vs. propranolol in essential tremor. A controlled, quantitative study.

    Science.gov (United States)

    Larsen, T A; Teräväinen, H; Calne, D B

    1982-11-01

    The beta-1 selective, hydrophilic adrenoceptor blocking drug atenolol (100 mg daily) was compared to the non-selective, lipid-soluble beta-blocker propranolol (240 mg daily), and to placebo, in a double-blind cross-over study in 24 patients with essential tremor. Atenolol and propranolol caused a similar decrease in heart rate. Both beta-blockers also suppressed the tremor intensity; there was no significant difference between them, but both were significantly better than placebo. These drugs did not affect tremor frequency. Twelve of the patients preferred propranolol subjectively, one preferred atenolol and none preferred placebo. No marked side-effects were observed. It was concluded that atenolol and other cardio-selective blockers offer an alternative for patients unable to tolerate the non-selective drugs. The site of action and receptor sub-type involved have still to be determined.

  4. Tremor Detection Using Parametric and Non-Parametric Spectral Estimation Methods : A Comparison with Clinical Assessment

    NARCIS (Netherlands)

    Martinez Manzanera, Octavio; Elting, Jan Willem; van der Hoeven, Johannes H; Maurits, Natasha M

    2016-01-01

    In the clinic, tremor is diagnosed during a time-limited process in which patients are observed and the characteristics of tremor are visually assessed. For some tremor disorders, a more detailed analysis of these characteristics is needed. Accelerometry and electromyography can be used to obtain a

  5. Mortalidad infantil en Cuba 1959-1999

    Directory of Open Access Journals (Sweden)

    Raúl Riverón Corteguera

    2001-09-01

    Full Text Available De 1959 a 1999, con los datos estadísticos disponibles, la mortalidad infantil en Cuba disminuyó en 81,3 %, la mortalidad neonatal precoz se redujo el 73,4 %, la mortalidad neonatal tardía el 83,6 % y la posneonatal en 86,0 %. Las reducciones obtenidas en el período se distribuyeron uniformemente entre todas las provincias, aunque la mayor disminución se produjo en las provincias centrales y occidentales. Los rubros que más disminuyeron sus tasas fueron: enteritis y otras enfermedades diarreicas, infecciones respiratorias agudas, afecciones perinatales en general y las meningitis, aunque todas las causas reducen la mortalidad en el período. La natalidad descendió el 51,3 %, la fecundidad lo hizo en 30 %, el crecimiento demográfico bruto de la población disminuyó el 59,8 %, el parto institucional aumentó en 65,9 %, el bajo peso al nacer descendió el 36,9 %, la mortalidad perinatal se redujo el 67,2 %, los nacidos vivos disminuyeron el 21,1 % y la supervivencia infantil a los 5 años aumentó el 3,8 %. Esto ha sido posible debido principalmente a la decisión política de priorizar el sector de la salud y muy especialmente la salud maternoinfantil adoptada por nuestro Estado a principios de la década de los 60, lo que permitió alcanzar avances en la organización, calidad de la atención y una amplia cobertura de los servicios de salud. También fueron elementos importantes, el mejoramiento del nivel de vida y de la educación alcanzados por la población, las mejoras logradas en la situación sanitaria y epidemiológica, la distribución equitativa de los alimentos que prioriza a la madre y al niño. Un elemento fundamental en la última década ha sido el desarrollo del "médico de la familia" en la atención primaria y el mejoramiento de la atención hospitalaria. Por otra parte han contribuido de manera notable el establecimiento del Programa Nacional de Atención Maternoinfantil, que abarca las inmunizaciones, el control de las

  6. PORNOGRAFÍA INFANTIL EN INTERNET

    Directory of Open Access Journals (Sweden)

    Laura Negredo

    2016-09-01

    Full Text Available La descarga, intercambio y producción de pornografía infantil es una conducta delictiva de importancia creciente. La explotación cruel de menores y su vínculo con otros problemas como el abuso sexual despiertan preocupación social y académica. El presente trabajo aborda la naturaleza del fenómeno, las características de los materiales que se etiquetan como pornografía infantil, los rasgos psicológicos de los usuarios y los programas de tratamiento existentes.

  7. Nonvolcanic tremors deep beneath the San Andreas Fault.

    Science.gov (United States)

    Nadeau, Robert M; Dolenc, David

    2005-01-21

    We have discovered nonvolcanic tremor activity (i.e., long-duration seismic signals with no clear P or S waves) within a transform plate boundary zone along the San Andreas Fault near Cholame, California, the inferred epicentral region of the 1857 Fort Tejon earthquake (moment magnitude approximately 7.8). The tremors occur between 20 to 40 kilometers' depth, below the seismogenic zone (the upper approximately 15 kilometers of Earth's crust where earthquakes occur), and their activity rates may correlate with variations in local earthquake activity.

  8. Intermittent bilateral coherence in physiological and essential hand tremor

    Czech Academy of Sciences Publication Activity Database

    Chakraborty, Soma; Kopecká, J.; Šprdlík, Otakar; Hoskovcová, M.; Ulmanová, O.; Růžička, E.; Zápotocký, Martin

    2017-01-01

    Roč. 128, č. 4 (2017), s. 622-634 ISSN 1388-2457 R&D Projects: GA ČR(CZ) GBP304/12/G069 Institutional support: RVO:67985823 ; RVO:67985556 Keywords : physiological tremor * essential tremor * bilateral coupling * coherence * ballistocardiac impulse * accelerometry * wavelet analysis Subject RIV: FH - Neurology; BC - Control Systems Theory (UTIA-B) OBOR OECD: Neurosciences (including psychophysiology; Computer sciences, information science, bioinformathics (hardware development to be 2.2, social aspect to be 5.8) (UTIA-B) Impact factor: 3.866, year: 2016

  9. Nadolol for lithium tremor in the presence of liver damage.

    Science.gov (United States)

    Dave, M; Langbart, M M

    1994-03-01

    Lithium-induced tremor classically responds to treatment with propranolol. Since it is metabolized in the liver, propranolol may not be the drug of choice in those patients who have compromised liver function or who are recovering from prior liver diseases. Another nonselective beta-adrenergic blocker, nadolol, has no hepatic biotransformation. We present here the first case report of successful treatment of lithium-induced tremor with nadolol, which was selected because the patient had compromised liver function. The patient's liver function tests remained stable with the therapy.

  10. PERSPECTIVAS INFANTILES SOBRE LA TERRITORIALIDAD

    Directory of Open Access Journals (Sweden)

    NOELIA ENRIZ

    2009-12-01

    Full Text Available In this paper we propose a different approach to children's ideas about the geographical area in the particular context of the Mbyá Guarani population, from Misiones (Argentine. The territorial fragility, that is exposed to the indigenous people in Argentina aremanifested daily in several areas. Mbyá population, has been crossed by the boundaries of national states of Paraguay, Brazil and Argentina. The sedentary and enclosures land processes in different states, have prompted changes in the logic of subsistence, housing and community organization. In Misiones province case, bureaucratic accreditation of land titles is postponed, the state is not committed to the realization of this right.RESUMEN: En este trabajo nos proponemos un acercamiento a las diversas ideas infantiles sobre el territorio habitado, en el contexto particular de la población mbyá guaraní de Misiones. La fragilidad territorialidad a la que es expuesta la población indígena en Argentina se manifiestan cotidianamente en diversas áreas. La población mbyá, ha sido surcada por los límites de los estados nacionales de Paraguay, Brasil y Argentina. La sedentarización y los cercamientos de tierras en los diferentes estados, han impulsado transformaciones de las lógicas de subsistencia, de habitación y organización comunitaria. En el caso de la provincia de Misiones la acreditación burocrática de los títulos de tierras se encuentra aplazada, el estado no se compromete con la concreción de este derecho.

  11. Laser treatment of infantile hemangiomas

    Directory of Open Access Journals (Sweden)

    Michelle Si Ying Ng

    2017-01-01

    Full Text Available Infantile hemangiomas (IHs are the most common benign soft tissue tumor of infancy and childhood. Many patients seek early treatment to halt progression of tumor growth and accelerate regression to achieve quick resolution with good cosmetic outcomes. We reviewed literature through PubMed search on the treatment strategies for IH and share our experience in the field of laser treatment of IH. Treatment strategies for IH include both pharmacological, laser, and surgical interventions depending on the stage and severity of the lesion. Various laser beams have been attempted with varying effects and effectiveness. The 595-nm pulsed dye laser therapy has been most widely utilized owing to its great efficacy but minimal adverse effects. It works by targeting oxyhemoglobin chromophore in blood vessels located within the dermis, causing photothermal damage of these target vessels stimulating quick involution without damaging surrounding healthy skin. It is especially useful in treating ulcerated superficial facial hemangiomas that necessitate rapid healing to avoid unsightly scarring. It has a good safety profile but small risk of epidermal burn, blistering, postinflammatory pigment changes, and scarring remains in those with darker skin types treated with higher fluences and short-pulsed duration. Combination treatment with 1064 nm neodymium-doped yttrium aluminum garnet laser, oral propranolol, and even corticosteroids remains an option, especially in treatment of deep, large, and functionally threatening IH. Careful consideration in consultation with the child's parents given the complexities and potential complications surrounding treatment should always be considered. Laser treatment remains an appropriate treatment for rapidly growing IH in exposed locations at early presentation.

  12. Infantile Hemophagocytic Lymphohistiocytosis in a Case of Chediak-Higashi Syndrome Caused by a Mutation in the LYST/CHS1 Gene Presenting With Delayed Umbilical Cord Detachment and Diarrhea

    DEFF Research Database (Denmark)

    Nielsen, Christian; Agergaard, Charlotte N; Jakobsen, Marianne A

    2015-01-01

    A 2-month-old female infant, born to consanguineous parents, presented with infections in skin and upper respiratory tract. She was notable for delayed umbilical cord detachment, partial albinism, and neurological irritability. Giant granules were present in white blood cells. The intracellular...... in this severe phenotype of Chediak-Higashi syndrome was probably induced by rotaviral infection. Interestingly, the intracellular perforin content in CD8 T cells seems to correlate to the immune activation state of the patient. Late separation of the umbilical cord in concordance with clinical symptoms should...

  13. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  14. Acute Infantile Hemiplegia Associated with Ipsilateral Retinal ...

    African Journals Online (AJOL)

    An 18-month-old patient with acute infantile hemiplegia, aphasia and ipsilateral retinal vascular occlusion, is described. The opthalmic findings suggest that the lesion was due to emboli originating from both internal carotid arteries, probably as a result of upper respiratory tract infection and otitis media. This report ...

  15. Biofeedback: Infant asthma Biofeedback: asma infantil

    Directory of Open Access Journals (Sweden)

    J. J. Nombela

    2010-09-01

    Full Text Available

    The present study is a revision of the different applications of biofeedback in infantile bronchial asthma. The technique may be used on its own (preferably in the motor area or in conjunction with other techniques such as hypnosis, relaxation, etc. However, it should be stated that previous work published in this field is difficult to interpret since results are inconclusive, it is, therefore, difficult to produce a scientific summary.

    KEY WORDS: Biofeedback; infantile asthma; respiratory biofeedback.

    Con este trabajo se pretende hacer una revisión sobre las distintas aplicaciones del biofeedback en el asma bronquial infantil, bien solo (preferentemente en el campo motriz o bien asociado a otras técnicas de hipnosis, relajación, etc. Aunque es necesario manifestar que la producción científica relacionada con el tema, hace que tenga una difícil valoración dado que sus resultados son no concluyentes y discutibles, lo cual dificulta la elaboración de un resumen científico.
    PALABRAS CLAVE: Biofeedback; asma infantil; biofeedback respiratorio

  16. El testimonio infantil ante el abuso sexual

    OpenAIRE

    Vera Temiño, Alba

    2012-01-01

    Se aborda la problemática de la evaluación del testimonio infantil en los casos de abuso sexual. Se hace un recorrido por las dificultades que plantea este tipo de análisis y se profundiza en las herramientas forenses que la psicología ha creado para su investigación

  17. Automated detection and characterization of harmonic tremor in continuous seismic data

    Science.gov (United States)

    Roman, Diana C.

    2017-06-01

    Harmonic tremor is a common feature of volcanic, hydrothermal, and ice sheet seismicity and is thus an important proxy for monitoring changes in these systems. However, no automated methods for detecting harmonic tremor currently exist. Because harmonic tremor shares characteristics with speech and music, digital signal processing techniques for analyzing these signals can be adapted. I develop a novel pitch-detection-based algorithm to automatically identify occurrences of harmonic tremor and characterize their frequency content. The algorithm is applied to seismic data from Popocatepetl Volcano, Mexico, and benchmarked against a monthlong manually detected catalog of harmonic tremor events. During a period of heightened eruptive activity from December 2014 to May 2015, the algorithm detects 1465 min of harmonic tremor, which generally precede periods of heightened explosive activity. These results demonstrate the algorithm's ability to accurately characterize harmonic tremor while highlighting the need for additional work to understand its causes and implications at restless volcanoes.

  18. Nonlinear dynamic mechanism of vocal tremor from voice analysis and model simulations

    Science.gov (United States)

    Zhang, Yu; Jiang, Jack J.

    2008-09-01

    Nonlinear dynamic analysis and model simulations are used to study the nonlinear dynamic characteristics of vocal folds with vocal tremor, which can typically be characterized by low-frequency modulation and aperiodicity. Tremor voices from patients with disorders such as paresis, Parkinson's disease, hyperfunction, and adductor spasmodic dysphonia show low-dimensional characteristics, differing from random noise. Correlation dimension analysis statistically distinguishes tremor voices from normal voices. Furthermore, a nonlinear tremor model is proposed to study the vibrations of the vocal folds with vocal tremor. Fractal dimensions and positive Lyapunov exponents demonstrate the evidence of chaos in the tremor model, where amplitude and frequency play important roles in governing vocal fold dynamics. Nonlinear dynamic voice analysis and vocal fold modeling may provide a useful set of tools for understanding the dynamic mechanism of vocal tremor in patients with laryngeal diseases.

  19. Rhythmic finger tapping reveals cerebellar dysfunction in essential tremor

    NARCIS (Netherlands)

    Buijink, A. W. G.; Broersma, M.; van der Stouwe, A. M. M.; van Wingen, G. A.; Groot, P. F. C.; Speelman, J. D.; Maurits, N. M.; van Rootselaar, A. F.

    Introduction: Cerebellar circuits are hypothesized to play a central role in the pathogenesis of essential tremor. Rhythmic finger tapping is known to strongly engage the cerebellar motor circuitry. We characterize cerebellar and, more specifically, dentate nucleus function, and neural correlates of

  20. Rhythmic finger tapping reveals cerebellar dysfunction in essential tremor

    NARCIS (Netherlands)

    Buijink, A. W. G.; Broersma, M.; van der Stouwe, A. M. M.; van Wingen, G. A.; Groot, P. F. C.; Speelman, J. D.; Maurits, N. M.; van Rootselaar, A. F.

    2015-01-01

    Cerebellar circuits are hypothesized to play a central role in the pathogenesis of essential tremor. Rhythmic finger tapping is known to strongly engage the cerebellar motor circuitry. We characterize cerebellar and, more specifically, dentate nucleus function, and neural correlates of cerebellar

  1. Knowledge gaps and research recommendations for essential tremor

    NARCIS (Netherlands)

    Hopfner, F.; Haubenberger, D.; Galpern, W.R.; Gwinn, K.; Veer, A. van der; White, S.; Bhatia, K.; Adler, C.H.; Eidelberg, D.; Ondo, W.; Stebbins, G.T.; Tanner, C.M.; Helmich, R.C.G.; Lenz, F.A.; Sillitoe, R.V.; Vaillancourt, D.; Vitek, J.L.; Louis, E.D.; Shill, H.A.; Frosch, M.P.; Foroud, T.; Kuhlenbaumer, G.; Singleton, A.; Testa, C.M.; Hallett, M.; Elble, R.; Deuschl, G.

    2016-01-01

    Essential tremor (ET) is a common cause of significant disability, but its etiologies and pathogenesis are poorly understood. Research has been hampered by the variable definition of ET and by non-standardized research approaches. The National Institute of Neurological Disorders and Stroke (USA)

  2. Acoustic Characteristics of Simulated Respiratory-Induced Vocal Tremor

    Science.gov (United States)

    Lester, Rosemary A.; Story, Brad H.

    2013-01-01

    Purpose: The purpose of this study was to investigate the relation of respiratory forced oscillation to the acoustic characteristics of vocal tremor. Method: Acoustical analyses were performed to determine the characteristics of the intensity and fundamental frequency (F[subscript 0]) for speech samples obtained by Farinella, Hixon, Hoit, Story,…

  3. Propranolol as an adjunct therapy for hyperthyroid tremor.

    Science.gov (United States)

    Henderson, J M; Portmann, L; Van Melle, G; Haller, E; Ghika, J A

    1997-01-01

    We evaluated the use of propranolol as an adjunct to carbimazole in the treatment of hyperthyroid tremor and tachycardia in a double-blind, cross-over and placebo-controlled study. Seven patients were given carbimazole plus either placebo or propranolol (40 mg) for 1 month and then switched to the alternative adjunct treatment for a further month. All patients showed significant improvements (p tremor amplitude after 1 or 2 months from baseline. One month after the baseline, the mean improvements of heart rate were 23% for the carbimazole + placebo group and 38% for carbimazole + propranolol group. Tremor also improved during the 1st month of the study by 31% in the carbimazole + placebo group versus 59% in the carbimazole + propranolol group. Whereas further improvements were observed in both variables in those receiving propranolol as the second adjunct treatment, this was not the case in those who received placebo during the same period. These findings confirm that the beta-blocker propranolol is a useful adjunct in the early treatment of both the tremor and tachycardia of hyperthyroidism.

  4. Tremor Detection Using Parametric and Non-Parametric Spectral Estimation Methods: A Comparison with Clinical Assessment

    Science.gov (United States)

    Martinez Manzanera, Octavio; Elting, Jan Willem; van der Hoeven, Johannes H.; Maurits, Natasha M.

    2016-01-01

    In the clinic, tremor is diagnosed during a time-limited process in which patients are observed and the characteristics of tremor are visually assessed. For some tremor disorders, a more detailed analysis of these characteristics is needed. Accelerometry and electromyography can be used to obtain a better insight into tremor. Typically, routine clinical assessment of accelerometry and electromyography data involves visual inspection by clinicians and occasionally computational analysis to obtain objective characteristics of tremor. However, for some tremor disorders these characteristics may be different during daily activity. This variability in presentation between the clinic and daily life makes a differential diagnosis more difficult. A long-term recording of tremor by accelerometry and/or electromyography in the home environment could help to give a better insight into the tremor disorder. However, an evaluation of such recordings using routine clinical standards would take too much time. We evaluated a range of techniques that automatically detect tremor segments in accelerometer data, as accelerometer data is more easily obtained in the home environment than electromyography data. Time can be saved if clinicians only have to evaluate the tremor characteristics of segments that have been automatically detected in longer daily activity recordings. We tested four non-parametric methods and five parametric methods on clinical accelerometer data from 14 patients with different tremor disorders. The consensus between two clinicians regarding the presence or absence of tremor on 3943 segments of accelerometer data was employed as reference. The nine methods were tested against this reference to identify their optimal parameters. Non-parametric methods generally performed better than parametric methods on our dataset when optimal parameters were used. However, one parametric method, employing the high frequency content of the tremor bandwidth under consideration

  5. Benedikt's Syndrome: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Aslı Aksoy Gundogdu

    2017-08-01

    Full Text Available Benedikt syndrome is a rare midbrain syndrome which is associated with the damage of the median mesencephalic tegmentum. The most common etiology of this syndrome is ischemic stroke. The occlusion of the posterior cerebral artery or the paramedian branches of the basilar artery results with the ischemia of this midbrain territory. Ipsilateral occulomotor cranial nerve palsy, contralateral hemiparesis, hemihypoesthesia, hemiataxia and korea or tremor are the clinical symptoms of this syndrome. In this article, we reported a case of Benedikt syndrome with an etiologic cause of cardioembolic stroke, who was diagnosed by the neurological examination and neuroradiological findings.

  6. La delfinoterapia en niños con síndrome Down atendidos en un círculo infantil especial Dolphin therapy in children with Down's syndrome in a special day care center

    Directory of Open Access Journals (Sweden)

    Eloy J Pineda Pérez

    2008-12-01

    Full Text Available INTRODUCCIÓN. El síndrome Down continúa siendo la enfermedad genética por alteración cromosómica más frecuente en el mundo y en Cuba, por lo que se buscan procedimientos que mejoran la atención integral a estos niños, entre los cuales se encuentra la delfinoterapia. El presente estudio tuvo como objetivo constatar el conocimiento de padres y profesores sobre esta terapia, conocer las habilidades alcanzadas por los niños y el grado de satisfacción de las familias. MÉTODOS. Se realizó un estudio descriptivo sobre el conocimiento y características de la delfinoterapia en niños con síndrome Down, tratados de esta forma desde octubre del 2004. A los tres años, en septiembre de 2007, se encuestaron 18 padres o madres y 8 profesores, y se incluyó la valoración logopédica y psicométrica cada 20 semanas y una evaluación anual por el Centro de Diagnóstico y Orientación. Los datos obtenidos se tabularon mediante conteo simple y se expresaron en porcentajes. Se siguieron los principios éticos de respeto a los niños discapacitados y del consentimiento de los padres. RESULTADOS. El 87,5 % de los profesores y el 33,4 % de los padres conocían de esta terapia. Todos los profesores y el 77,7 % de los padres reconocieron nuevas habilidades en los niños, más importantes en el aprendizaje y la socialización de aquellos. El 100 % de los profesores y el 88,8 % de los padres desearon incorporar esta terapia en la educación especial. CONCLUSIONES. El conocimiento de los padres es menor que el de los profesores. Esta terapia propicia avance en diferentes áreas del desarrollo psicomotor y es un método eficaz para la estimulación de los niños con síndrome de Down, que puede contribuir a su integración social.INTRODUCTION: Down's syndrome is still the most common genetic disease by chromosomic alteration in the world and in Cuba. That's why, procedures improving the comprehensive attention to these children, such as dolphin therapy, are

  7. Indole-diterpenes and ergot alkaloids in Cynodon dactylon (Bermuda grass) infected with Claviceps cynodontis from an outbreak of tremors in cattle.

    Science.gov (United States)

    Uhlig, Silvio; Botha, Christo J; Vrålstad, Trude; Rolén, Elin; Miles, Christopher O

    2009-12-09

    Tremorgenic syndromes in mammals are commonly associated with indole-diterpenoid alkaloids of fungal origin. Cattle are sometimes affected by tremors (also called "staggers") when they graze on toxic grass pastures, and Bermuda grass ( Cynodon dactylon , kweek) has been known to be associated with tremors for several decades. This study reports the identification of paspalitrems and paspaline-like indole-diterpenes in the seedheads of Claviceps cynodontis -infected Bermuda grass collected from a pasture that had caused a staggers syndrome in cattle in South Africa and thereby links the condition to specific mycotoxins. The highest concentration (about 150 mg/kg) was found for paspalitrem B. Ergonovine and ergine (lysergic acid amide), together with their C-8 epimers, were found to co-occur with the indole-diterpenes at concentrations of about 10 microg/kg. The indole-diterpene profile of the extract from the ergotized Bermuda grass was similar to that of Claviceps paspali sclerotia. However, the C. paspali sclerotia contained in addition agroclavine and elymoclavine. This is the first study linking tremors associated with grazing of Bermuda grass to specific tremorgenic indole-diterpenoid mycotoxins.

  8. Contribution of inter-muscular synchronization in the modulation of tremor intensity in Parkinson's disease.

    Science.gov (United States)

    He, Xin; Hao, Man-Zhao; Wei, Ming; Xiao, Qin; Lan, Ning

    2015-12-01

    Involuntary central oscillations at single and double tremor frequencies drive the peripheral neuromechanical system of muscles and joints to cause tremor in Parkinson's disease (PD). The central signal of double tremor frequency was found to correlate more directly to individual muscle EMGs (Timmermann et al. 2003). This study is aimed at investigating what central components of oscillation contribute to inter-muscular synchronization in a group of upper extremity muscles during tremor in PD patients. 11 idiopathic, tremor dominant PD subjects participated in this study. Joint kinematics during tremor in the upper extremity was recorded along with EMGs of six upper arm muscles using a novel experimental apparatus. The apparatus provided support for the upper extremity on a horizontal surface with reduced friction, so that resting tremor in the arm can be recorded with a MotionMonitor II system. In each subject, the frequencies of rhythmic firings in upper arm muscles were determined using spectral analysis. Paired and pool-averaged coherence analyses of EMGs for the group of muscles were performed to correlate the level of inter-muscular synchronization to tremor amplitudes at shoulder and elbow. The phase shift between synchronized antagonistic muscle pairs was calculated to aid coherence analysis in the muscle pool. Recorded EMG revealed that rhythmic firings were present in most recorded muscles, which were either synchronized to form phase-locked bursting cycles at a subject specific frequency, or unsynchronized with a random phase distribution. Paired coherence showed a stronger synchronization among a subset of recorded arm muscles at tremor frequency than that at double tremor frequency. Furthermore, the number of synchronized muscles in the arm was positively correlated to tremor amplitudes at elbow and shoulder. Pool-averaged coherence at tremor frequency also showed a better correlation with the amplitude of resting tremor than that of double tremor

  9. [Clinical subtypes of essential tremor and their electrophysiological and pharmacological differences].

    Science.gov (United States)

    Koguchi, Y; Nakajima, M; Kawamura, M; Hirayama, K

    1995-02-01

    We divided 19 patients with essential tremor into two subtypes according to clinical characteristics of the tremor. Ten patients had pure postural tremor distributed in the hand(s), head, and face (group A). Nine patients had tremor extending to the voice or leg(s), associated with resting tremor and/or hyperkinesie volitionnelle of the hand(s) (group B). Their ages, the age of onset, and the duration of illness were not different between the two groups. Electrophysiologically, the tremor of group A patients had higher frequencies than that of group B patients, and had synchronized activities for antagonistic muscles. Four of group B patients had reciprocal antagonistic activities of the tremor. Inactive phase of tremor induced by an electrically-evoked muscle twitch was invariably within the range of the physiological silent period for group A patients, and prolonged beyond the range for four of group B patients. Pharmacologically, 78% of group A patients responded well to beta-blocker, which was effective for 25% of group B patients. Sixty per cent of beta-blocker-resistant group B patients responded well to phenobarbital. In conclusion, a peripheral mechanism, presumably beta-adrenergic drive, is important for the tremor in group A patients, while central pathogenic mechanisms are more important for the tremor of group B patients.

  10. Sustained Medication Reduction Following Unilateral VIM Thalamic Stimulation for Essential Tremor.

    Science.gov (United States)

    Resnick, Andrew S; Okun, Michael S; Malapira, Teresita; Smith, Donald; Vale, Fernando L; Sullivan, Kelly; Miller, Amber; Jahan, Israt; Zesiewicz, Theresa

    2012-01-01

    Deep brain stimulation (DBS) is an increasingly utilized therapeutic modality for the management of medication refractory essential tremor (ET). The aim of this study was to determine whether DBS allowed for anti-tremor medication reduction within the year after the procedure was performed. We conducted a retrospective chart review and telephone interviews on 34 consecutive patients who had been diagnosed with ET, and who had undergone unilateral DBS surgery. Of the 34 patients in our cohort, 31 patients (91%) completely stopped all anti-tremor medications either before surgery (21 patients, 62%) or in the year following DBS surgery (10 patients, 29%). Patients who discontinued tremor medications before DBS surgery did so because their tremors either became refractory to anti-tremor medication, or they developed adverse events to tremor medications. Patients who stopped tremor medications after DBS surgery did so due to sufficient tremor control. Only three patients (9%) who were taking tremor medications at the time of surgery continued the use of a beta-blocker post-operatively for the purpose of hypertension management in all cases. The data from this study indicate that medication cessation is common following unilateral DBS for ET.

  11. Sustained Medication Reduction Following Unilateral VIM Thalamic Stimulation for Essential Tremor

    Directory of Open Access Journals (Sweden)

    Andrew S. Resnick

    2012-04-01

    Full Text Available Background: Deep brain stimulation (DBS is an increasingly utilized therapeutic modality for the management of medication refractory essential tremor (ET. The aim of this study was to determine whether DBS allowed for anti-tremor medication reduction within the year after the procedure was performed. Methods: We conducted a retrospective chart review and telephone interviews on 34 consecutive patients who had been diagnosed with ET, and who had undergone unilateral DBS surgery. Results: Of the 34 patients in our cohort, 31 patients (91% completely stopped all anti-tremor medications either before surgery (21 patients, 62% or in the year following DBS surgery (10 patients, 29%. Patients who discontinued tremor medications before DBS surgery did so because their tremors either became refractory to anti-tremor medication, or they developed adverse events to tremor medications. Patients who stopped tremor medications after DBS surgery did so due to sufficient tremor control. Only three patients (9% who were taking tremor medications at the time of surgery continued the use of a beta-blocker post-operatively for the purpose of hypertension management in all cases. Discussion: The data from this study indicate that medication cessation is common following unilateral DBS for ET. 

  12. One central oscillatory drive is compatible with experimental motor unit behaviour in essential and Parkinsonian tremor

    Science.gov (United States)

    Dideriksen, Jakob L.; Gallego, Juan A.; Holobar, Ales; Rocon, Eduardo; Pons, Jose L.; Farina, Dario

    2015-08-01

    Objective. Pathological tremors are symptomatic to several neurological disorders that are difficult to differentiate and the way by which central oscillatory networks entrain tremorogenic contractions is unknown. We considered the alternative hypotheses that tremor arises from one oscillator (at the tremor frequency) or, as suggested by recent findings from the superimposition of two separate inputs (at the tremor frequency and twice that frequency). Approach. Assuming one central oscillatory network we estimated analytically the relative amplitude of the harmonics of the tremor frequency in the motor neuron output for different temporal behaviors of the oscillator. Next, we analyzed the bias in the relative harmonics amplitude introduced by superimposing oscillations at twice the tremor frequency. These findings were validated using experimental measurements of wrist angular velocity and surface electromyography (EMG) from 22 patients (11 essential tremor, 11 Parkinson’s disease). The ensemble motor unit action potential trains identified from the EMG represented the neural drive to the muscles. Main results. The analytical results showed that the relative power of the tremor harmonics in the analytical models of the neural drive was determined by the variability and duration of the tremor bursts and the presence of the second oscillator biased this power towards higher values. The experimental findings accurately matched the analytical model assuming one oscillator, indicating a negligible functional role of secondary oscillatory inputs. Furthermore, a significant difference in the relative power of harmonics in the neural drive was found across the patient groups, suggesting a diagnostic value of this measure (classification accuracy: 86%). This diagnostic power decreased substantially when estimated from limb acceleration or the EMG. Signficance. The results indicate that the neural drive in pathological tremor is compatible with one central network

  13. CT findings in patients with infantile epilepsy on ACTH therapy

    International Nuclear Information System (INIS)

    Watanabe, Kazunari; Hara, Kimiko; Hakamada, Akira; Miyazaki, Shuji.

    1981-01-01

    A case of infantile spasms in which subdural hematoma developed after ACTH-Z therapy was reported. The results of CT evaluated before and after the therapy in 17 cases of infantile epilepsy including infantile spasms. Cerebral atrophy due to ACTH-Z therapy was remarkable, especially in the infants under one year old. We should vary careful in employing ACTH-Z therapy for infants of this age. (Ueda, J.)

  14. Borehole Array Observations of Non-Volcanic Tremor at SAFOD

    Science.gov (United States)

    Ellsworth, W. L.; Luetgert, J. H.; Oppenheimer, D. H.

    2005-12-01

    We report on the observation of non-volcanic tremor made in the San Andreas Fault Observatory at Depth in May, 2005 during the deployment of a multi-level borehole seismic array in the SAFOD main hole. The seismic array consisted of 80 levels of hydraulically-clamped 3-component, 15 Hz omni-directional geophones spaced 15.24 m apart along a 1200 m section of the inclined borehole between 1538 and 2363 m below the ground surface. The array was provided by Paulsson Geophysical Services, Inc. (P/GSI), and recorded at a sample rate of 4000 sps on 24-bit Geode digital recorders provided by Geometrics, Inc. More than 2 TB of continuous data were recorded during the 2-week deployment. Selected local earthquakes and explosions recorded by the array are available at the Northern California Earthquake Data Center, and the entire unedited data set is available as assembled data at the IRIS Data Management Center. Both data sets are currently in the industry standard SEG2 format. Episodes of non-volcanic tremor are common along this reach of the San Andreas Fault according to Nadeau and Dolenc [2004, DOI: 10.1126/science.1107142], with many originating about 30 km southeast of SAFOD beneath the southern end of the Parkfield segment and northern end of the Simmler segment of the fault. We identified tremor episodes using spectrograms routinely produced by the Northern California Seismic Network (http://quake.usgs.gov/cgi-bin/sgrampark.pl) on which they appear as periods of elevated noise relative to the background. A particularly strong tremor episode occurred on May 10, 2005 between 19:39 and 20:00 UTC. In SAFOD, tremor spectral levels exceed the instrumental noise floor to at least 40 Hz. The spatially unaliased recording of the tremor wavefield on the P/GSI array reveal individual phases that can be tracked continuously across the array. The wavefield is composed of both up- and down-going shear waves that form quasi-stationary interference patterns in which areas of

  15. Gamma knife thalamotomy for Parkinson's tremor: A 5-year experience

    International Nuclear Information System (INIS)

    Duma, Christopher M.; Jacques, Deane B.; Kopyov, Oleg V.; Mark, Rufus J.; Copcutt, Brian G.

    1996-01-01

    Purpose: Elderly, high-risk surgical patients, may be unfit for radiofrequency thalamotomy for Parkinson's tremor. We have performed gamma knife radiosurgery in this select patient population, in lieu of open surgery, in an attempt at amelioration of disabling tremor. Materials and Methods: Radiosurgical nucleus ventralis intermedalis thalamotomy using gamma unit technique was performed on 38 patients (median age, 72 years; range: 50-88 years) over a period of 5 years. A median dose of 155 Gy (range: 110-160 Gy) was delivered using a single 4-mm collimator to 40 nuclei (2 patients underwent bilateral thalamotomy) using only anatomical atlas landmarks. The number of males and females were evenly divided, and their ages ranged from 50 to 88 years (median: 72 years). Two-thirds of the patients underwent left thalamotomy for right-sided trmor. Patients were followed-up for a median of 14 months (range: 6 to 43 months). Independent neurological evaluation of tremor as well as subjective patient evaluation were based on a 4-tiered scale: no improvement, mild improvement (0-33% effect), good improvement (33-66% effect), and excellent improvement (66-100%). Results: Eight thalamotomies (20%) failed, four (10%) gave mild improvement, and 28 (70%) gave good to excellent improvement of tremor (median time of onset of improvement was 3 months; range: 1-11 months). In 12 patients (32%) the tremor was eliminated completely. Concordance between independent neurologist evaluation and that of the patient was significant (p<0.001). Two patients in the failure group had an initial transient improvement. Two patients who underwent unilateral thalamotomy had bilateral improvement of their tremor. A permanent 5-6 mm lesion was seen on all follow-up MRIs and there were no radiological complications. A worsening of hand strength was seen in only patient. Conclusion: The safety and efficacy of gamma unit radiosurgical thalamotomy is on par with that of radiofrequency thalamotomy, and in a

  16. Atypical Vitamin B-6 Deficiency A Rare Cause of Unexplained Neonatal and Infantile Epilepsies

    DEFF Research Database (Denmark)

    Baumgart, A.; von Spiczak, S.; Verhoeven-Duif, N. M.

    2014-01-01

    ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B-6 metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we screened 113 patients for mutations in both genes...... pyridoxine treatment. "Hidden" vitamin B-6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes........ We identified 1 patient with an epilepsy phenotype resembling Dravet syndrome and likely pathogenic mutations in ALDH7A1. Presenting features were highly atypical of pyridoxine-dependent epilepsy, including febrile seizures, response to anticonvulsive drugs, and periods of seizure freedom without...

  17. Management of infantile hemangiomas: Current trends

    Directory of Open Access Journals (Sweden)

    Gomathy Sethuraman

    2014-01-01

    Full Text Available Infantile hemangiomas (IH are common vascular tumours. IH have a characteristic natural course. They proliferate rapidly during the early infantile period followed by a period of gradual regression over several years. Most of the uncomplicated IH undergo spontaneous involution, with a small proportion of cases requiring intervention. These are children with IH in life-threatening locations, local complications like haemorrhage, ulceration and necrosis and functional or cosmetic disfigurements. Systemic corticosteroids have been the first line of treatment for many years. Recently, non-selective beta-blockers, such as oral propranalol and topical timolol, have emerged as promising and safer therapies. Other treatment options include interferon α and vincristine which are reserved for life-threatening haemangiomas that are unresponsive to conventional therapy. This review mainly focuses on the current trends and evidence-based approach in the management of IH.

  18. Estimating seismic moment magnitude (Mw) of tremor bursts in northern Cascadia: Implications for the “seismic efficiency” of episodic tremor and slip

    Science.gov (United States)

    Kao, Honn; Wang, Kelin; Dragert, Herb; Kao, Jason Y.; Rogers, Garry

    2010-10-01

    We develop a method to estimate the seismic moments of deep non-volcanic tremor bursts observed in northern Cascadia. For each tremor burst, the maximum amplitudes at individual stations within a time window ±5 s around the predicted arrivals of the S phase are measured and compared to the maximum S amplitudes measured from synthetic seismograms. The proposed method is thoroughly calibrated using 464 local earthquakes and the results show excellent consistency between the reported ML and the estimated Mw. We apply the method to northern Cascadia tremors and infer that most bursts have Mw˜1.0-1.7. The corresponding b value appears to be 1, consistent with that of ordinary earthquakes but over a narrower Mw range. Comparison of cumulative tremor Mw and the Mw estimated from the accompanying slow slip suggests that the “seismic efficiency” of the Episodic Tremor and Slip (ETS) is of the order of 0.1% or less.

  19. Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

    DEFF Research Database (Denmark)

    Jønch, Aia Elise; Grønskov, Karen; Carlsen Lunding, Jytte Merete

    2014-01-01

    Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat...

  20. CRESCIMENTO INFANTIL: ANÁLISE DO CONCEITO

    Directory of Open Access Journals (Sweden)

    Flávia Paula Magalhães Monteiro

    2016-01-01

    Full Text Available El objetivo fue analizar el concepto de crecimiento infantil mediante identificación de elementos atributos y consecuencias que componen el fenómeno. Para análisis de concepto que fue basado en 41 estudios, se utilizaron el modelo de análisis evolutivo y la revisión integradora de la literatura. Para selección de las producciones, se buscaron las bases de datos Scopus, Cinahl y Lilacs, el portal de PubMed e la biblioteca Cochrane. El crecimiento se ha presentado diferentes connotaciones, incluyendo aspectos sociales y fisiológicos como parte del dominio físico del desarrollo del niño. Atributos y consecuencias identificadas traen amplia percepción acerca del fenómeno analizado, teniendo en cuenta que vinculan diversos aspectos relacionados con otros estudios sobre crecimiento infantil. La comprensión teórica del desarrollo infantil puede proporcionar a enfermeros conocimiento en profundidad sobre los factores que implican este proceso, facilitando decisiones a través de medidas de intervención.

  1. Thalamic Ventral Intermediate Nucleus Deep Brain Stimulation for Orthostatic Tremor

    Directory of Open Access Journals (Sweden)

    Alexander C. Lehn

    2017-07-01

    Full Text Available Background: Orthostatic tremor (OT was first described in 1977. It is characterized by rapid tremor of 13–18 Hz and can be recorded in the lower limbs and trunk muscles. OT remains difficult to treat, although some success has been reported with deep brain stimulation (DBS.Case Report: We report a 68-year-old male with OT who did not improve significantly after bilateral thalamic stimulation.Discussion: Although some patients were described who improved after DBS surgery, more information is needed about the effect of these treatment modalities on OT, ideally in the form of randomized trial data. 

  2. Botulinum Toxin for the Treatment of Tremor and Tics.

    Science.gov (United States)

    Lotia, Mitesh; Jankovic, Joseph

    2016-02-01

    The therapeutic applications of botulinum toxin (BoNT) have grown manifold since its initial approval in 1989 by the U.S. Food and Drug Administration for the treatment of strabismus, blepharospasm, and other facial spasms. Although it is the most potent biologic toxin known to man, long-term studies have established its safety in the treatment of a variety of neurologic and nonneurologic disorders. Despite a paucity of randomized controlled trials, BoNT has been found to be beneficial in treating a variety of tremors and tics when used by clinicians skilled in the administration of the drug for these hyperkinetic movement disorders. Botulinum toxin injections can provide meaningful improvement in patients with localized tremors and tics; in some cases, they may be an alternative to other treatments with more undesirable adverse effects. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  3. [Treatment of lithium tremor with the beta receptor blocker, pindolol].

    Science.gov (United States)

    Floru, L; Tegeler, J; Wolmsen, H

    1979-01-01

    In a cross-over study with Pindolol, 15 mg/day, against placebo, we studied during 4 weeks 22 patients aged between 20 and 65 years who where treated by means of lithium carbonate retard (Quilonum Retard). The tremor was measured twice a week by means of three apparative methods: an accelerometer, a 'hole-plate' and an 'aimed tapping plate', both constructed by Janke, and was also studied by means of a self-evaluation rating-scale. We obtained a positive therapeutic effect of Pindolol on lithium-induced tremor, which was statistically significant by means of the 'hole-plate' and of self-evaluation. Differences in results are discussed.

  4. Shooting performance is related to forearm temperature and hand tremor size.

    Science.gov (United States)

    Lakie, M; Villagra, F; Bowman, I; Wilby, R

    1995-08-01

    The changes in postural tremor of the hand and the subsequent effect on shooting performance produced by moderate cooling and heating of the forearm were studied in six subjects. Cooling produced a large decrease in tremor size of the ipsilateral hand, whereas warming the limb produced an increase in tremor size. Cooling or warming the forearm did not change the peak frequency of tremor significantly, which was quite stable for each subject. The improvement in shooting performance after cooling the forearm, as measured by grouping pattern of the shots, reached statistical significance and warming caused a significant worsening. This measure of performance was shown to correlate (r = 0.776) inversely with tremor size. The causes and implications of these changes are discussed. It is suggested that local cooling may be useful for people who wish temporarily to reduce tremor in order to improve dexterity for shooting and for other purposes.

  5. Task-specific kinetic finger tremor affects the performance of carrom players.

    Science.gov (United States)

    Kahathuduwa, Chanaka N; Weerasinghe, Vajira S; Dassanayake, Tharaka L; Priyadarshana, Rajeewa; Dissanayake, Arunika L; Perera, Christine

    2016-01-01

    We aimed to determine the effect of task-specific kinetic finger tremor, as indexed by surface electromyography (EMG), on the accuracy of a carrom stroke. Surface EMG of extensor digitorum communis muscle of the playing arm was recorded during rest, isometric contraction and stroke execution in 17 male carrom players with clinically observed finger tremor and 18 skill- and age-matched controls. Log-transformed power spectral densities (LogPSDs) of surface EMG activity (signifying tremor severity) at a 1-s pre-execution period correlated with angular error of the stroke. LogPSDs in 4-10 Hz range were higher in players with tremor than controls during pre-execution (P kinetic finger tremor in carrom players. This finger tremor during the immediate pre-execution phase appears to be a significant determinant of stroke accuracy.

  6. Propranolol, clonidine, urapidil and trazodone infusion in essential tremor: a double-blind crossover trial.

    Science.gov (United States)

    Caccia, M R; Osio, M; Galimberti, V; Cataldi, G; Mangoni, A

    1989-05-01

    Accelerometric tremorgrams were recorded from 25 subjects affected by essential tremor and analysed by a Berg-Fourier frequency analyser before and during venous infusion of the following drugs: propranolol (beta-blocker), clonidine (alpha-presynaptic adrenergic agonist), urapidil (alpha-postsynaptic blocker), trazodone (adrenolytic agent) and placebo. The washout interval between infusions was 3 days. Recordings and data analyses were performed in a double-blind crossover trial. Tremor was classified as: at rest; postural (arms hyperextended); and intention (finger-nose test). Analysis of the results showed that propranolol and clonidine reduced significantly (P = 0.01 and P = 0.009, respectively) the power spectrum of postural tremor, but left at rest and intention tremors unchanged. No significant effects on the tremor power spectrum were observed after placebo, urapidil or trazodone administration. None of the drugs had any effect on tremor frequency.

  7. Altered brain network measures in patients with primary writing tremor

    Energy Technology Data Exchange (ETDEWEB)

    Lenka, Abhishek; Jhunjhunwala, Ketan Ramakant [National Institute of Mental Health and Neurosciences, Department of Clinical Neurosciences, Bangalore, Karnataka (India); National Institute of Mental Health and Neurosciences (NIMHANS), Department of Neurology, Bangalore, Karnataka (India); Panda, Rajanikant; Saini, Jitender; Bharath, Rose Dawn [National Institute of Mental Health and Neurosciences, Department of Neuroimaging and Interventional Radiology, Bangalore, Karnataka (India); Yadav, Ravi; Pal, Pramod Kumar [National Institute of Mental Health and Neurosciences (NIMHANS), Department of Neurology, Bangalore, Karnataka (India)

    2017-10-15

    Primary writing tremor (PWT) is a rare task-specific tremor, which occurs only while writing or while adopting the hand in the writing position. The basic pathophysiology of PWT has not been fully understood. The objective of this study is to explore the alterations in the resting state functional brain connectivity, if any, in patients with PWT using graph theory-based analysis. This prospective case-control study included 10 patients with PWT and 10 age and gender matched healthy controls. All subjects underwent MRI in a 3-Tesla scanner. Several parameters of small-world functional connectivity were compared between patients and healthy controls by using graph theory-based analysis. There were no significant differences in age, handedness (all right handed), gender distribution (all were males), and MMSE scores between the patients and controls. The mean age at presentation of tremor in the patient group was 51.7 ± 8.6 years, and the mean duration of tremor was 3.5 ± 1.9 years. Graph theory-based analysis revealed that patients with PWT had significantly lower clustering coefficient and higher path length compared to healthy controls suggesting alterations in small-world architecture of the brain. The clustering coefficients were lower in PWT patients in left and right medial cerebellum, right dorsolateral prefrontal cortex (DLPFC), and left posterior parietal cortex (PPC). Patients with PWT have significantly altered small-world brain connectivity in bilateral medial cerebellum, right DLPFC, and left PPC. Further studies with larger sample size are required to confirm our results. (orig.)

  8. Altered brain network measures in patients with primary writing tremor

    International Nuclear Information System (INIS)

    Lenka, Abhishek; Jhunjhunwala, Ketan Ramakant; Panda, Rajanikant; Saini, Jitender; Bharath, Rose Dawn; Yadav, Ravi; Pal, Pramod Kumar

    2017-01-01

    Primary writing tremor (PWT) is a rare task-specific tremor, which occurs only while writing or while adopting the hand in the writing position. The basic pathophysiology of PWT has not been fully understood. The objective of this study is to explore the alterations in the resting state functional brain connectivity, if any, in patients with PWT using graph theory-based analysis. This prospective case-control study included 10 patients with PWT and 10 age and gender matched healthy controls. All subjects underwent MRI in a 3-Tesla scanner. Several parameters of small-world functional connectivity were compared between patients and healthy controls by using graph theory-based analysis. There were no significant differences in age, handedness (all right handed), gender distribution (all were males), and MMSE scores between the patients and controls. The mean age at presentation of tremor in the patient group was 51.7 ± 8.6 years, and the mean duration of tremor was 3.5 ± 1.9 years. Graph theory-based analysis revealed that patients with PWT had significantly lower clustering coefficient and higher path length compared to healthy controls suggesting alterations in small-world architecture of the brain. The clustering coefficients were lower in PWT patients in left and right medial cerebellum, right dorsolateral prefrontal cortex (DLPFC), and left posterior parietal cortex (PPC). Patients with PWT have significantly altered small-world brain connectivity in bilateral medial cerebellum, right DLPFC, and left PPC. Further studies with larger sample size are required to confirm our results. (orig.)

  9. Altered brain network measures in patients with primary writing tremor.

    Science.gov (United States)

    Lenka, Abhishek; Jhunjhunwala, Ketan Ramakant; Panda, Rajanikant; Saini, Jitender; Bharath, Rose Dawn; Yadav, Ravi; Pal, Pramod Kumar

    2017-10-01

    Primary writing tremor (PWT) is a rare task-specific tremor, which occurs only while writing or while adopting the hand in the writing position. The basic pathophysiology of PWT has not been fully understood. The objective of this study is to explore the alterations in the resting state functional brain connectivity, if any, in patients with PWT using graph theory-based analysis. This prospective case-control study included 10 patients with PWT and 10 age and gender matched healthy controls. All subjects underwent MRI in a 3-Tesla scanner. Several parameters of small-world functional connectivity were compared between patients and healthy controls by using graph theory-based analysis. There were no significant differences in age, handedness (all right handed), gender distribution (all were males), and MMSE scores between the patients and controls. The mean age at presentation of tremor in the patient group was 51.7 ± 8.6 years, and the mean duration of tremor was 3.5 ± 1.9 years. Graph theory-based analysis revealed that patients with PWT had significantly lower clustering coefficient and higher path length compared to healthy controls suggesting alterations in small-world architecture of the brain. The clustering coefficients were lower in PWT patients in left and right medial cerebellum, right dorsolateral prefrontal cortex (DLPFC), and left posterior parietal cortex (PPC). Patients with PWT have significantly altered small-world brain connectivity in bilateral medial cerebellum, right DLPFC, and left PPC. Further studies with larger sample size are required to confirm our results.

  10. Is there a Premotor Phase of Essential Tremor?

    Directory of Open Access Journals (Sweden)

    Abhishek Lenka

    2017-10-01

    Full Text Available Background: Essential tremor (ET is the most common tremor disorder. In addition to its hallmark feature, kinetic tremor of the upper limbs, patients may have a number of non-motor symptoms and signs (NMS. Several lines of evidence suggest that ET is a neurodegenerative disorder and certain NMS may antedate the onset of tremor. This article comprehensively reviews the evidence for the existence of a "premotor phase" of ET, and discusses plausible biological explanations and implications.Methods: A PubMed search in May 2017 identified articles for this review.Results: The existence of a premotor phase of ET gains support primarily from longitudinal data. In individuals who develop incident ET, baseline (i.e., premotor evaluations reveal greater cognitive dysfunction, a faster rate of cognitive decline, and the presence of a protective effect of education against dementia. In addition, baseline evaluations also reveal more self-reported depression, antidepressant medication use, and shorter sleep duration in individuals who eventually develop incident ET. In cross-sectional studies, certain personality traits and NMS (e.g., olfactory dysfunction also suggest the existence of a premotor phase.Discussion: There is preliminary evidence supporting the existence of a premotor phase of ET. The mechanisms are unclear; however, the presence of Lewy bodies in some ET brains in autopsy studies and involvement of multiple neural networks in ET as evident from the neuroimaging studies, are possible contributors. Most evidence is from a longitudinal cohort (Neurological Disorders of Central Spain: NEDICES; additional longitudinal studies are warranted to gain better insights into the premotor phase of ET.

  11. Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-.

    Science.gov (United States)

    Choi, Joon Woo; Kim, Eun-Ju; Min, Byung Woo; Ban, Jong Seouk; Lee, Sang Gon; Lee, Ji-Hyang

    2012-02-01

    Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experienced desaturation and bronchospasm during arteriovenous fistula surgery in an obese adult with Prader-Willi syndrome.

  12. Fentanyl bolus induces muscle tremors in sevoflurane-anaesthetized piglets.

    Science.gov (United States)

    Ringer, S K; Spielmann, N; Weiss, M; Mauch, J Y

    2016-08-01

    Intravenous fentanyl (10 mcg/kg) or saline (control) was randomly administered to 10 healthy sevoflurane-mono-anaesthetized piglets. Trembling was assessed by two blinded observers using a visual analogue scale (VAS) and a simple ordinal scale at baseline and 5 min (T5) after drug administration. If no trembling was observed at that time point, the opposite treatment was administered and piglets were re-evaluated after another 5 min (T10). Four out of five piglets showed trembling after fentanyl (T5), while none given saline showed any trembling. With fentanyl the VAS scores were significantly higher at T5 compared either with baseline or with the control treatment. Control animals received fentanyl after the 5 min evaluation and all piglets showed clear trembling afterwards. The median time after fentanyl administration until first muscle tremors was 51 (20-840) s. In summary, nine out of 10 sevoflurane-anaesthetized piglets showed muscle tremors after intravenous fentanyl. Tremors subsided over time and no specific treatment was necessary. © The Author(s) 2015.

  13. Electrophysiologic Assessments of Involuntary Movements: Tremor and Myoclonus

    Directory of Open Access Journals (Sweden)

    Hyun-Dong Park

    2009-05-01

    Full Text Available Tremor is defined as a rhythmical, involuntary oscillatory movement of a body part. Although neurological examination reveals information regarding its frequency, regularity, amplitude, and activation conditions, the electrophysiological investigations help in confirming the tremor, in differentiating it from other hyperkinetic disorders like myoclonus, and may provide etiological clues. Accelerometer with surface electromyogram (EMG can be used to document the dominant frequency of a tremor, which may be useful as certain frequencies are more characteristic of specific etiologies than others hyperkinetic disorders. It may show rhythmic bursts, duration and activation pattern (alternating or synchronous. Myoclonus is a quick, involuntary movement. Electrophysiological studies may helpful in the evaluation of myoclonus, not only for confirming the clinical diagnosis but also for understanding the underlying physiological mechanisms. Electroencephalogram (EEG-EMG correlates can give us important information about myoclonus. Jerk-locked back-averaging and evoked potentials with recording of the long-latency, long-loop reflexes are currently available to study the pathophysiology of myoclonus.

  14. Volcanic tremor associated with eruptive activity at Bromo volcano

    Directory of Open Access Journals (Sweden)

    E. Gottschämmer

    1999-06-01

    Full Text Available Three broadband stations were deployed on Bromo volcano, Indonesia, from September to December 1995. The analysis of the seismograms shows that the signals produced by the volcanic sources cover the frequency range from at least 25 Hz down to periods of several minutes and underlines, therefore, the importance of broadband recordings. Frequency analysis reveals that the signal can be divided into four domains. In the traditional frequency range of volcanic tremor (1-10 Hz sharp transitions between two distinct values of the tremor amplitude can be observed. Additional tremor signal including frequencies from 10 to 20 Hz could be found during late November and early December. Throughout the whole experiment signals with periods of some hundred seconds were observed which are interpreted as ground tilts. For these long-period signals a particle motion analysis was performed in order to estimate the source location. Depth and radius can be estimated when the source is modeled as a sudden pressure change in a sphere. The fourth frequency range lies between 0.1 and 1 Hz and is dominated by two spectral peaks which are due to marine microseism. The phase velocity and the direction of wave propagation of these signals could be determined using the tripartite-method.

  15. TREMOR: A wireless MEMS accelerograph for dense arrays

    Science.gov (United States)

    Evans, J.R.; Hamstra, R.H.; Kundig, C.; Camina, P.; Rogers, J.A.

    2005-01-01

    The ability of a strong-motion network to resolve wavefields can be described on three axes: frequency, amplitude, and space. While the need for spatial resolution is apparent, for practical reasons that axis is often neglected. TREMOR is a MEMS-based accelerograph using wireless Internet to minimize lifecycle cost. TREMOR instruments can economically augment traditional ones, residing between them to improve spatial resolution. The TREMOR instrument described here has dynamic range of 96 dB between ??2 g, or 102 dB between ??4 g. It is linear to ???1% of full scale (FS), with a response function effectively shaped electronically. We developed an economical, very low noise, accurate (???1%FS) temperature compensation method. Displacement is easily recovered to 10-cm accuracy at full bandwidth, and better with care. We deployed prototype instruments in Oakland, California, beginning in 1998, with 13 now at mean spacing of ???3 km - one of the most densely instrumented urban centers in the United States. This array is among the quickest in returning (PGA, PGV, Sa) vectors to ShakeMap, ???75 to 100 s. Some 13 events have been recorded. A ShakeMap and an example of spatial variability are shown. Extensive tests of the prototypes for a commercial instrument are described here and in a companion paper. ?? 2005, Earthquake Engineering Research Institute.

  16. Corticomuscular transmission of tremor signals by propriospinal neurons in Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Manzhao Hao

    Full Text Available Cortical oscillatory signals of single and double tremor frequencies act together to cause tremor in the peripheral limbs of patients with Parkinson's disease (PD. But the corticospinal pathway that transmits the tremor signals has not been clarified, and how alternating bursts of antagonistic muscle activations are generated from the cortical oscillatory signals is not well understood. This paper investigates the plausible role of propriospinal neurons (PN in C3-C4 in transmitting the cortical oscillatory signals to peripheral muscles. Kinematics data and surface electromyogram (EMG of tremor in forearm were collected from PD patients. A PN network model was constructed based on known neurophysiological connections of PN. The cortical efferent signal of double tremor frequencies were integrated at the PN network, whose outputs drove the muscles of a virtual arm (VA model to simulate tremor behaviors. The cortical efferent signal of single tremor frequency actuated muscle spindles. By comparing tremor data of PD patients and the results of model simulation, we examined two hypotheses regarding the corticospinal transmission of oscillatory signals in Parkinsonian tremor. Hypothesis I stated that the oscillatory cortical signals were transmitted via the mono-synaptic corticospinal pathways bypassing the PN network. The alternative hypothesis II stated that they were transmitted by way of PN multi-synaptic corticospinal pathway. Simulations indicated that without the PN network, the alternating burst patterns of antagonistic muscle EMGs could not be reliably generated, rejecting the first hypothesis. However, with the PN network, the alternating burst patterns of antagonist EMGs were naturally reproduced under all conditions of cortical oscillations. The results suggest that cortical commands of single and double tremor frequencies are further processed at PN to compute the alternating burst patterns in flexor and extensor muscles, and the

  17. Corticomuscular transmission of tremor signals by propriospinal neurons in Parkinson's disease.

    Science.gov (United States)

    Hao, Manzhao; He, Xin; Xiao, Qin; Alstermark, Bror; Lan, Ning

    2013-01-01

    Cortical oscillatory signals of single and double tremor frequencies act together to cause tremor in the peripheral limbs of patients with Parkinson's disease (PD). But the corticospinal pathway that transmits the tremor signals has not been clarified, and how alternating bursts of antagonistic muscle activations are generated from the cortical oscillatory signals is not well understood. This paper investigates the plausible role of propriospinal neurons (PN) in C3-C4 in transmitting the cortical oscillatory signals to peripheral muscles. Kinematics data and surface electromyogram (EMG) of tremor in forearm were collected from PD patients. A PN network model was constructed based on known neurophysiological connections of PN. The cortical efferent signal of double tremor frequencies were integrated at the PN network, whose outputs drove the muscles of a virtual arm (VA) model to simulate tremor behaviors. The cortical efferent signal of single tremor frequency actuated muscle spindles. By comparing tremor data of PD patients and the results of model simulation, we examined two hypotheses regarding the corticospinal transmission of oscillatory signals in Parkinsonian tremor. Hypothesis I stated that the oscillatory cortical signals were transmitted via the mono-synaptic corticospinal pathways bypassing the PN network. The alternative hypothesis II stated that they were transmitted by way of PN multi-synaptic corticospinal pathway. Simulations indicated that without the PN network, the alternating burst patterns of antagonistic muscle EMGs could not be reliably generated, rejecting the first hypothesis. However, with the PN network, the alternating burst patterns of antagonist EMGs were naturally reproduced under all conditions of cortical oscillations. The results suggest that cortical commands of single and double tremor frequencies are further processed at PN to compute the alternating burst patterns in flexor and extensor muscles, and the neuromuscular dynamics

  18. Orthostatic Tremor: A Spectrum of Fast and Slow Frequencies or Distinct Entities?

    OpenAIRE

    Rigby, Heather B.; Rigby, Matthew H.; Caviness, John N.

    2015-01-01

    Background: Orthostatic tremor (OT) is defined by the presence of a high-frequency (13–18 Hz) tremor of the legs upon standing associated with a feeling of unsteadiness. However, some patients have discharge frequencies of <13 Hz, so-called “slow OT”. The aim of this study was to characterize patients with unsteadiness upon standing found to have <13 Hz tremor discharges on neurophysiologic testing. Methods: A retrospective review was performed on all subjects with a d...

  19. Low-dose acute vanillin is beneficial against harmaline-induced tremors in rats.

    Science.gov (United States)

    Abdulrahman, Al Asmari; Faisal, Kunnathodi; Meshref, Ali Al Amri; Arshaduddin, Mohammed

    2017-03-01

    To study the effect of pretreatment with low doses of vanillin, a flavoring agent used as a food additive, on harmaline-induced tremor in rats. Sprague Dawley rats (110 ± 5 g) were divided into groups of six animals each. Vanillin (6.25 mg, 12.5 mg, and 25 mg/kg) was administered by gavage to different groups of rats, 30 minutes before the induction of tremor. Harmaline (10 mg/kg, i.p.) was used for the induction of tremor. The latency of onset, duration, tremor intensity, tremor index, and spontaneous locomotor activity were recorded. A separate batch of animals was used for the determination of serotonin (5HT) and 5 hydroxyindole acetic acid (5HIAA) levels in the brain. Harmaline treatment resulted in characteristic tremor that lasted for more than 2 hours and decreased the locomotor activity of rats. Pre-treatment with vanillin significantly reduced the duration, intensity, and tremor index of harmaline-treated animals. Vanillin treatment also significantly attenuated harmaline-induced decrease in the locomotor activity. An increase in 5HT levels and the changes in 5HIAA/5HT ratio observed in harmaline treated rats were significantly corrected in vanillin pretreated animals. Vanillin in low doses reduces harmaline-induced tremor in rats, probably through its modulating effect on serotonin levels in the brain. These findings suggest a beneficial effect of vanillin in essential tremor.

  20. Using an Earthquake Simulator to Model Tremor Along a Strike Slip Fault

    Science.gov (United States)

    Cochran, E. S.; Richards-Dinger, K. B.; Kroll, K.; Harrington, R. M.; Dieterich, J. H.

    2013-12-01

    We employ the earthquake simulator, RSQSim, to investigate the conditions under which tremor occurs in the transition zone of the San Andreas fault. RSQSim is a computationally efficient method that uses rate- and state- dependent friction to simulate a wide range of event sizes for long time histories of slip [Dieterich and Richards-Dinger, 2010; Richards-Dinger and Dieterich, 2012]. RSQSim has been previously used to investigate slow slip events in Cascadia [Colella et al., 2011; 2012]. Earthquakes, tremor, slow slip, and creep occurrence are primarily controlled by the rate and state constants a and b and slip speed. We will report the preliminary results of using RSQSim to vary fault frictional properties in order to better understand rupture dynamics in the transition zone using observed characteristics of tremor along the San Andreas fault. Recent studies of tremor along the San Andreas fault provide information on tremor characteristics including precise locations, peak amplitudes, duration of tremor episodes, and tremor migration. We use these observations to constrain numerical simulations that examine the slip conditions in the transition zone of the San Andreas Fault. Here, we use the earthquake simulator, RSQSim, to conduct multi-event simulations of tremor for a strike slip fault modeled on Cholame section of the San Andreas fault. Tremor was first observed on the San Andreas fault near Cholame, California near the southern edge of the 2004 Parkfield rupture [Nadeau and Dolenc, 2005]. Since then, tremor has been observed across a 150 km section of the San Andreas with depths between 16-28 km and peak amplitudes that vary by a factor of 7 [Shelly and Hardebeck, 2010]. Tremor episodes, comprised of multiple low frequency earthquakes (LFEs), tend to be relatively short, lasting tens of seconds to as long as 1-2 hours [Horstmann et al., in review, 2013]; tremor occurs regularly with some tremor observed almost daily [Shelly and Hardebeck, 2010; Horstmann

  1. Aging, hypertension and physiological tremor: the contribution of the cardioballistic impulse to tremorgenesis in older adults.

    Science.gov (United States)

    Morrison, Steven; Sosnoff, Jacob J; Heffernan, Kevin S; Jae, Sae Young; Fernhall, Bo

    2013-03-15

    For older adults, an increase in physiological tremor is a common motor feature. This increase is believed to primarily reflect a general decline in function of the neuromuscular system. However, given that tremor is derived from a number of intrinsic sources, age-related changes in other physiological functions like the cardiac system may also negatively alter tremor output. The aim of this study was to examine what impact age and increased cardiac input (hypertension) have on physiological tremor. Heart rate, blood pressure, and postural/resting tremor were recorded in three groups; 1) young, healthy adults, 2) old, normotensive adults, and 3) old, hypertensive adults. The results demonstrated that the old hypertensive adults had greater postural tremor compared to the young healthy individuals. Coherence analysis revealed significant coupling between blood pressure-tremor and between heart rate-tremor for all individuals. The strength of this coupling was greatest for the older, hypertensive individuals. Together these results show that, for older adults, the combined effects of age and cardiac disease have the greatest impact on physiological tremor rather than any single factor alone. Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Multiple Seismic Array Observations for Tracing Deep Tremor Activity in Western Shikoku, Japan

    Science.gov (United States)

    Takeda, T.; Matsuzawa, T.; Shiomi, K.; Obara, K.

    2011-12-01

    Deep non-volcanic tremors become very active during episodic slow-slip events in western Japan and Cascadia. The episodic tremor and slow-slip events in western Shikoku, Japan, occur at a typical interval of 6 months. Recently, it has been reported that tremor migration activity is complex and shows different migrating directions depending on time scales (Ghosh et al., 2010). Such characteristics of tremor are important to understand the mechanism of tremor and the relationship between tremor and SSEs. However it is difficult to determine the location of tremors with high accuracy because tremors show faint signals and make the identification of P/S-wave arrivals difficult. Seismic array analysis is useful to evaluate tremor activity, especially to estimate the arrival direction of seismic energy (e.g. Ueno et al., 2010, Ghosh et al., 2010), as it can distinguish multiple tremor sources occurring simultaneously. Here, we have conducted seismic array observation and analyzed seismic data during tremor activity by applying the MUSIC method to trace tremor location and its migration in western Shikoku. We have installed five seismic arrays in western Shikoku since January 2011. One of the arrays contains 30 stations with 3-component seismometers with a natural frequency of 2 Hz (Type-L array). The array aperture size is 2 km and the mean interval between stations is approximately 200 m. Each of the other arrays (Type-S array) contains 9 seismic stations with the same type of seismometers of the Type-L array, and is deployed surrounding the Type-L array. The small array aperture size is 800 m and its mean station interval is approximately 150 m. All array stations have recorded continuous waveform data at a sampling of 200Hz. In May 2011, an episodic tremor and a short-term slip event occurred for the first time during the observation period. We could retrieve the array seismic data during the whole tremor episode. The analysis of data from the type-L array confirms

  3. Gliding and Quasi-harmonic Tremor Behaviour of Raung Volcano: November 2014 Crisis Period Case Study

    Directory of Open Access Journals (Sweden)

    Vico Luthfi Ipmawan

    2018-01-01

    Full Text Available DOI: 10.17014/ijog.5.1.13-21The seismic activity of Raung Volcano was raised on 11 November 2014. As many as 1709 tremors were recorded followed by continuous tremors appearing in late November 2014. Quasi-harmonic and gliding tremors appeared in a spectrogram on 12 November 2014. The quasi-harmonic tremors refer to tremors that have no fully harmonic form in spectrum. The gliding harmonic tremors refer to harmonic tremors that have frequency jumps with either positive or negative increment. After signal restitution processing, the Maximum Entropy Spectral Analysis (MESA method was applied in Raung recordings resulting the spectrum and the spectrogram of tremors. The quasi-harmonic tremors have the monotonic spectrum in its head and centre segment, and the harmonic one in its tails. There are twenty-four spectrums that show frequency changes between the monotonic and harmonic. The similarity between the fundamental frequency range of the monotonic and harmonic ones suggests that both signals are excited from a common resonator. The alternating of monotonic and harmonic respectively over this period is qualitatively similar with Julian’s synthetic time series about the nonlinear oscillator model. It is suggested that Raung Volcano magma pressure is sizeable to make a chaotic vibration. A pressure increasing in Raung magmatic conduit causes the increasing of P-wave velocity and makes a positive gliding frequency.

  4. Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia

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    Antonios Mammis

    2012-07-01

    Full Text Available Background: Abetalipoproteinemia is a rare disorder of fat absorption, characterized by vitamin deficiency, acanthocytosis, and neurologic symptoms including ataxia and tremor.Case Report: A 41-year-old male with abetalipoproteinemia is presented. He underwent staged bilateral thalamic deep brain stimulation (DBS for the treatment of his tremors. After DBS, the patient achieved significant improvements in his tremors, ataxia, and quality of life.Discussion: Thalamic DBS proved to be both safe and efficacious in the management of ataxia and tremors in a patient with abetalipoproteinemia. This is the first report of DBS in abetalipoproteinemia in the literature. 

  5. Parkinsonian rest tremor can be detected accurately based on neuronal oscillations recorded from the subthalamic nucleus.

    Science.gov (United States)

    Hirschmann, J; Schoffelen, J M; Schnitzler, A; van Gerven, M A J

    2017-10-01

    To investigate the possibility of tremor detection based on deep brain activity. We re-analyzed recordings of local field potentials (LFPs) from the subthalamic nucleus in 10 PD patients (12 body sides) with spontaneously fluctuating rest tremor. Power in several frequency bands was estimated and used as input to Hidden Markov Models (HMMs) which classified short data segments as either tremor-free rest or rest tremor. HMMs were compared to direct threshold application to individual power features. Applying a threshold directly to band-limited power was insufficient for tremor detection (mean area under the curve [AUC] of receiver operating characteristic: 0.64, STD: 0.19). Multi-feature HMMs, in contrast, allowed for accurate detection (mean AUC: 0.82, STD: 0.15), using four power features obtained from a single contact pair. Within-patient training yielded better accuracy than across-patient training (0.84vs. 0.78, p=0.03), yet tremor could often be detected accurately with either approach. High frequency oscillations (>200Hz) were the best performing individual feature. LFP-based markers of tremor are robust enough to allow for accurate tremor detection in short data segments, provided that appropriate statistical models are used. LFP-based markers of tremor could be useful control signals for closed-loop deep brain stimulation. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  6. Resolving the Detailed Spatiotemporal Slip Evolution of Deep Tremor in Western Japan

    Science.gov (United States)

    Ohta, Kazuaki; Ide, Satoshi

    2017-12-01

    We study the detailed spatiotemporal behavior of deep tremor in western Japan through the development and application of a new slip inversion method. Although many studies now recognize tremor as shear slip along the plate interface manifested in low-frequency earthquake (LFE) swarms, a conventional slip inversion analysis is not available for tremor due to insufficient knowledge of source locations and Green's functions. Here we introduce synthetic template waveforms, which are typical tremor waveforms obtained by stacking LFE seismograms at arranged points along the plate interface. Using these synthetic template waveforms as substitutes for Green's functions, we invert the continuous tremor waveforms using an iterative deconvolution approach with Bayesian constraints. We apply this method to two tremor burst episodes in western and central Shikoku, Japan. The estimated slip distribution from a 12 day tremor burst episode in western Shikoku is heterogeneous, with several patchy areas of slip along the plate interface where rapid moment releases with durations of tremor burst episode that occurred coincidentally with a very low frequency earthquake (VLF), we observe that the source size of the VLF is much larger than that estimated from tremor activity in western Shikoku. These differences in the size of the slip region may dictate the visibility of VLF signals in observed seismograms, which has implications for the mechanics of slow earthquakes and subduction zone processes.

  7. White matter microstructure damage in tremor-dominant Parkinson's disease patients

    International Nuclear Information System (INIS)

    Luo, ChunYan; Song, Wei; Chen, Qin; Yang, Jing; Shang, Hui-Fang; Gong, QiYong

    2017-01-01

    Resting tremor is one of the cardinal motor features of Parkinson's disease (PD). Several lines of evidence suggest resting tremor may have different underlying pathophysiological processes from those of bradykinesia and rigidity. The current study aims to identify white matter microstructural abnormalities associated with resting tremor in PD. We recruited 60 patients with PD (30 with tremor-dominant PD and 30 with nontremor-dominant PD) and 26 normal controls. All participants underwent clinical assessment and diffusion tensor MRI. We used tract-based spatial statistics to investigate white matter integrity across the entire white matter tract skeleton. Compared with both healthy controls and the nontremor-dominant PD patients, the tremor-dominant PD patients were characterized by increased mean diffusivity (MD) and axial diffusivity (AD) along multiple white matter tracts, mainly involving the cerebello-thalamo-cortical (CTC) pathway. The mean AD value in clusters with significant difference was correlated with resting tremor score in the tremor-dominant PD patients. There was no significant difference between the nontremor-dominant PD patients and controls. Our results support the notion that resting tremor in PD is a distinct condition in which significant microstructural white matter changes exist and provide evidence for the involvement of the CTC in tremor genesis of PD. (orig.)

  8. Toward Expanding Tremor Observations in the Northern San Andreas Fault System in the 1990s

    Science.gov (United States)

    Damiao, L. G.; Dreger, D. S.; Nadeau, R. M.; Taira, T.; Guilhem, A.; Luna, B.; Zhang, H.

    2015-12-01

    The connection between tremor activity and active fault processes continues to expand our understanding of deep fault zone properties and deformation, the tectonic process, and the relationship of tremor to the occurrence of larger earthquakes. Compared to tremors in subduction zones, known tremor signals in California are ~5 to ~10 smaller in amplitude and duration. These characteristics, in addition to scarce geographic coverage, lack of continuous data (e.g., before mid-2001 at Parkfield), and absence of instrumentation sensitive enough to monitor these events have stifled tremor detection. The continuous monitoring of these events over a relatively short time period in limited locations may lead to a parochial view of the tremor phenomena and its relationship to fault, tectonic, and earthquake processes. To help overcome this, we have embarked on a project to expand the geographic and temporal scope of tremor observation along the Northern SAF system using available continuous seismic recordings from a broad array of 100s of surface seismic stations from multiple seismic networks. Available data for most of these stations also extends back into the mid-1990s. Processing and analysis of tremor signal from this large and low signal-to-noise dataset requires a heavily automated, data-science type approach and specialized techniques for identifying and extracting reliable data. We report here on the automated, envelope based methodology we have developed. We finally compare our catalog results with pre-existing tremor catalogs in the Parkfield area.

  9. White matter microstructure damage in tremor-dominant Parkinson's disease patients

    Energy Technology Data Exchange (ETDEWEB)

    Luo, ChunYan; Song, Wei; Chen, Qin; Yang, Jing; Shang, Hui-Fang [Sichuan University, Department of Neurology, West China Hospital, Chengdu, Sichuan (China); Gong, QiYong [Sichuan University, Huaxi MR Research Center, Department of Radiology, West China Hospital, Chengdu, Sichuan (China)

    2017-07-15

    Resting tremor is one of the cardinal motor features of Parkinson's disease (PD). Several lines of evidence suggest resting tremor may have different underlying pathophysiological processes from those of bradykinesia and rigidity. The current study aims to identify white matter microstructural abnormalities associated with resting tremor in PD. We recruited 60 patients with PD (30 with tremor-dominant PD and 30 with nontremor-dominant PD) and 26 normal controls. All participants underwent clinical assessment and diffusion tensor MRI. We used tract-based spatial statistics to investigate white matter integrity across the entire white matter tract skeleton. Compared with both healthy controls and the nontremor-dominant PD patients, the tremor-dominant PD patients were characterized by increased mean diffusivity (MD) and axial diffusivity (AD) along multiple white matter tracts, mainly involving the cerebello-thalamo-cortical (CTC) pathway. The mean AD value in clusters with significant difference was correlated with resting tremor score in the tremor-dominant PD patients. There was no significant difference between the nontremor-dominant PD patients and controls. Our results support the notion that resting tremor in PD is a distinct condition in which significant microstructural white matter changes exist and provide evidence for the involvement of the CTC in tremor genesis of PD. (orig.)

  10. Co-Prevalence of Tremor with Spasmodic Dysphonia: A Case-Control Study

    Science.gov (United States)

    White, Laura; Klein, Adam; Hapner, Edie; Delgaudio, John; Hanfelt, John; Jinnah, H. A.; Johns, Michael

    2011-01-01

    OBJECTIVES/HYPOTHESIS The aim of this study was to define the co-prevalence of tremor with spasmodic dysphonia (SD). STUDY DESIGN A single institution prospective, case-control study was performed from May 2010 to July 2010. METHODS Consecutive patients with SD (cases) and other voice disorders (controls) were enrolled prospectively. Each participant underwent a voice evaluation and an evaluation for tremor. RESULTS 146 voice disorder controls and 128 patients with SD were enrolled. 26% of patients with SD had vocal tremor, 21% had non-vocal tremor. Patients with SD were 2.8 times more likely to have co-prevalent tremor than the control group (OR = 2.81; 95% CI, 1.55 to 5.08) and only 35% of patients with SD had been seen by a neurologist for the evaluation of dystonia and tremor. CONCLUSIONS Tremor is highly prevalent in patients with SD. It is important for each patient diagnosed with SD to undergo an evaluation for tremor, this is especially important in patients diagnosed with vocal tremor. Level of evidence 3b. PMID:21792965

  11. HYPERTROPHIC CARDIOMYOPATHY AS A PART OF INHERITED MALFORMATION SYNDROMES IN INFANTS

    Directory of Open Access Journals (Sweden)

    M.V. Tural'chuk

    2011-01-01

    Full Text Available The data of clinical and instrumental examination of two infantile patients with obstructive hypertrophic cardiomyopathy in association with marked multisystem involvement as a picture of inherited malformation syndromes are given.Key words: infants, hypertrophic cardiomyopathy, LEOPARD syndrome, Noonan syndrome.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (3: 166–169

  12. Seismic Tremors and Three-Dimensional Magma Wagging

    Science.gov (United States)

    Liao, Y.; Bercovici, D.

    2015-12-01

    Seismic tremor is a feature shared by many silicic volcanoes and is a precursor of volcanic eruption. Many of the characteristics of tremors, including their frequency band from 0.5 Hz to 7 Hz, are common for volcanoes with very different geophysical and geochemical properties. The ubiquitous characteristics of tremor imply that it results from some generation mechanism that is common to all volcanoes, instead of being unique to each volcano. Here we present new analysis on the magma-wagging mechanism that has been proposed to generate tremor. The model is based on the suggestion given by previous work (Jellinek & Bercovici 2011; Bercovici et.al. 2013) that the magma column is surrounded by a compressible, bubble-rich foam annulus while rising inside the volcanic conduit, and that the lateral oscillation of the magma inside the annulus causes observable tremor. Unlike the previous two-dimensional wagging model where the displacement of the magma column is restricted to one vertical plane, the three-dimensional model we employ allows the magma column to bend in different directions and has angular motion as well. Our preliminary results show that, without damping from viscous deformation of the magma column, the system retains angular momentum and develops elliptical motion (i.e., the horizontal displacement traces an ellipse). In this ''inviscid'' limit, the magma column can also develop instabilities with higher frequencies than what is found in the original two-dimensional model. Lateral motion can also be out of phase for various depths in the magma column leading to a coiled wagging motion. For the viscous-magma model, we predict a similar damping rate for the uncoiled magma column as in the two-dimensional model, and faster damping for the coiled magma column. The higher damping thus requires the existence of a forcing mechanism to sustain the oscillation, for example the gas-driven Bernoulli effect proposed by Bercovici et al (2013). Finally, using our new 3

  13. The Early vs. Late Infantile Strabismus Surgery Study: Monitoring Report

    NARCIS (Netherlands)

    H.J. Simonsz (Huib)

    1995-01-01

    textabstractAbstract: The Early vs. Late Infantile Strabismus Surgery Study Group is a group of strabismologists and orthoptists who investigate whether early or late surgery is preferable in infantile strabismus, in a non-randomized, prospective, multi-center trial. Infants between six and 18

  14. El maltrato infantil y la credibilidad del testimonio en menores

    OpenAIRE

    Fagúndez Gómez, Raquel

    2015-01-01

    En los últimos años ha aumentado de forma exponencial la investigación acerca del maltrato infantil, ya que se considera un acto reprobable y completamente perjudicial para el menor. Este estudio tiene como finalidad dar a conocer los tipos de maltrato infantil existentes y la metodología que se puede utilizar para detectarlos.

  15. The changing epidemiology of infantile hypertrophic pyloric stenosis in Scotland.

    Science.gov (United States)

    Sommerfield, T; Chalmers, J; Youngson, G; Heeley, C; Fleming, M; Thomson, G

    2008-12-01

    The aetiology of infantile hypertrophic pyloric stenosis (IHPS) has not been fully elucidated. Since the 1990s, a sharp decline in IHPS has been reported in various countries. Recent research from Sweden reported a correlation between falling rates of IHPS and of sudden infant death syndrome (SIDS). This was attributed to a reduction in the number of infants sleeping in the prone position following the "Back to Sleep" campaign. To describe the changing epidemiology of IHPS in Scotland, to examine the relationship between IHPS and SIDS rates and to examine trends in other factors that may explain the observed reduction in IHPS incidence. Incidence rates of IHPS and SIDS were derived from routine data and their relationship analysed. Trends in mean maternal age, maternal smoking, mean birth weight and breastfeeding rates were also examined. The whole of Scotland between 1981 and 2004. IHPS incidence fell from 4.4 to 1.4 per 1000 live births in Scotland between 1981 and 2004. Rates were consistently higher in males, although the overall incidence patterns in males and females were similar. Rates showed a positive relationship with deprivation. The fall in the incidence of IHPS preceded the fall in SIDS by 2 years and the incidence of SIDS displayed less variability than that of IHPS. Significant temporal trends were also observed in other maternal and infant characteristics. There has been a marked reduction in Scotland's IHPS incidence, but this is unlikely to be a consequence of a change in infant sleeping position.

  16. Abuso sexual infantil, trastornos de la conducta alimentaria y su tratamiento.

    Directory of Open Access Journals (Sweden)

    Denise Saboya

    2013-11-01

    Full Text Available Este trabajo aborda las modalidades de tratamientos sistémicos y cognitivos en sujetos que padecieron Abuso Sexual Infantil (ASI y posteriormente desarrollaron trastornos de la conducta alimentaria, específicamente anorexia y bulimia. Summit (1983 agrupa las acciones familiares y/o judiciales en relación al abuso bajo el nombre de Síndrome de Acomodación al Abuso Sexual Infantil (SAASI. Este incluye cinco etapas: el secreto, el desamparo, el entrampamiento y la acomodación, la revelación tardía y no convincente y por último la retracción. En aquellos casos de desconfianza y negación por parte de la figura materna u otros miembros significativos del grupo familiar ante la develación del abuso, se observa el desarrollo de los trastornos de la alimentación (Losada, 2011. En los niños que presentan trastornos de la conducta alimentaria se observa que hicieron la tentativa de contar el ASI y no fueron escuchados, dando lugar al SAASI y pidiendo ayuda nuevamente pero con su cuerpo portando un trastorno de la conducta alimentaria. Se considera imprescindible el desarrollo de un programa de tratamiento para la comorbilidad entre el abuso sexual infantil y los trastornos de la alimentación, siguiendo el concepto de eclecticismo técnico, inspirado en Lazarus (1992. Se considera relevante que el profesional este abierto a la posibilidad de emplear lo mejor de cada enfoque y escuela para así atender mejor a las diversas necesidades de los pacientes. This work approaches the modalities of systemic and cognitive fastened treatments that suffered sexual infantile abuse and later they developed disorders of the food conduct, specifically anorexia and bulimia. Summit (1983 it groups these familiar or judicial actions under the name of Syndrome of Accommodation to the Sexual Infantile Abuse (SAASI. This one includes five stages: the secret, the abandonment, the entrampamiento and the accommodation, the late and not convincing revelation and

  17. A calendar savant with autism and Tourette syndrome. Response to treatment and thoughts on the interrelationships of these conditions.

    Science.gov (United States)

    Nelson, E C; Pribor, E F

    1993-06-01

    A case of a calendar savant with infantile autism and Tourette syndrome is presented. Pharmacotherapy and comorbidity issues are discussed in terms of the interrelationships of these conditions and obsessive-compulsive disorder.

  18. Results of Casting in Severe Curves in Infantile Scoliosis.

    Science.gov (United States)

    Stasikelis, Peter J; Carpenter, Ashley M

    2018-04-01

    Previous work has demonstrated best results for casting in infantile scoliosis when the curves are small and the child begins casting under 2 years of age. This study examines if casting can delay the need for growth friendly instrumentation in severe curves (50 to 106 degrees) and how the comorbidities of syrinx or genetic syndromes affected outcomes. All children undergoing casting for scoliosis at a single institution over an 8-year period were examined. Inclusion criteria included initial curve at first casting of ≥50 degrees, age ≤3 years at the start of casting, and a minimum follow-up of 3 years. Of 148 children undergoing casting during this period, 44 met our inclusion criteria. All children underwent magnetic resonance imaging. Ten children with a syrinx were identified. Ten children had known genetic syndromes (2 who also had a syrinx). The 26 children without these comorbidities were considered idiopathic. Curve magnitude ranged from 50 to 106 degrees. Nine of the 26 (35%) children in the children with idiopathic curves demonstrated resolution of their curves, while only 3 of the remaining 18 (17%) did. Of the children that did not have resolution of their curves, 14 were maintained over the entire follow-up period to within 15 degrees of their initial curve and 13 were improved 15 degrees or more. Only 5 children had an increase of 15 degrees or more over the follow-up period and 4 of these have undergone growth friendly instrumentation after a mean delay from initial cast of 71 months (range, 18 to 100 mo). This study demonstrates that even in severe curves, casting was effective in delaying instrumentation in all cases, and led to curve resolution of the curves in 12 of 44 children. Level III-case control study.

  19. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    Science.gov (United States)

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. Increased precipitation of spasms in an animal model of infantile spasms by prenatal stress exposure.

    Science.gov (United States)

    Shi, Xiu-Yu; Ju, Jun; Zou, Li-Ping; Wang, Juan; Shang, Ning-Xiu; Zhao, Jian-Bo; Wang, Jing; Zhang, Jun-Yan

    2016-05-01

    Infantile spasms (IS) represent a serious epileptic syndrome, called West syndrome (WS) that occurs in the early infantile age. Although several hypotheses and animal models have been proposed to explain the pathogenesis of IS, the pathophysiology of IS has not been elucidated. Recently, we proposed a hypothesis for IS under prenatal stress exposure (also called Zou's hypothesis) by correlating diverse etiologies and prenatal stresses with IS development. This research aims to determine the mechanism through which prenatal stress affects the offspring and establish the potential underlying mechanisms. Pregnant rats were subjected to forced swimming in cold water. Rat pups exposed to prenatal stress were administered with N-methyl-D-aspartate (NMDA). Exposure to prenatal stress sensitized the rats against development of NMDA-induced spasms. However, this phenomenon was altered by administering adrenocorticotropin. Prenatal stress exposure also altered the hormonal levels and neurotransmitter receptor expression of the developing rats as well as influenced the tissue structure of the brain. These findings suggest that maternal stress could alter the level of endogenous glucocorticoid, which is the basis of IS, and cerebral dysplasia, hypoxic-ischemic encephalopathy (HIE), inherited metabolic diseases, and other factors activated this disease in developmental brain. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Deep Brain Stimulation of the Dentato-Rubro-Thalamic Tract: Outcomes of Direct Targeting for Tremor.

    Science.gov (United States)

    Fenoy, Albert J; Schiess, Mya C

    2017-07-01

    Targeting the dentato-rubro-thalamic tract (DRTt) has been suggested to be efficacious in deep brain stimulation (DBS) for tremor suppression, both in case reports and post-hoc analyses. This prospective observational study sought to analyze outcomes after directly targeting the DRTt in tremor patients. 20 consecutively enrolled intention tremor patients obtained pre-operative MRI with diffusion tensor (dTi) sequences. Mean baseline tremor amplitude based on The Essential Tremor Rating Assessment Scale was recorded. The DRTt was drawn for each individual on StealthViz software (Medtronic) using the dentate nucleus as the seed region and the ipsilateral pre-central gyrus as the end region and then directly targeted during surgery. Intraoperative testing confirmed successful tremor control. Post-operative analysis of electrode position relative to the DRTt was performed, as was post-operative assessment of tremor improvement. The mean age of patients was 66.8 years; mean duration of tremor was 16 years. Mean voltage for the L electrode = 3.4 V; R = 2.6 V. Mean distance from the center of the active electrode contact to the DRTt was 0.9 mm on the L, and 0.8 mm on the R. Improvement in arm tremor amplitude from baseline after DBS was significant (P tremor suppression. Accounting for hardware, software, and model limitations, depiction of the DRTt allows for placement of electrode contacts directly within the fiber tract for modulation despite any anatomical variation, which reproducibly resulted in good tremor control. © 2017 International Neuromodulation Society.

  2. CT image in Reye syndrome

    International Nuclear Information System (INIS)

    Murayama, Takashi; Sakuma, Nobuko; Ishikawa, Akashi; Saito, Yoko; Takebayashi, Takeyasu; Kuwashima, Shigeru

    1983-01-01

    In a male infant with infantile spasms which had been observed, Reye's syndrome occurred at the age of 1 year and 6 months. CT findings, before the onset of Reye's syndrome, in the acute stage of the disease, and in the recovering stage, were obtained. The features of the disease were shown as low-absorption areas in the frontal and fronto-temporal areas of the head, and also strongly degenerative findings in the same areas, even in the recovery stage. This seemed to be characteristic to Reye's syndrome, and the basis of the suggestion was discussed. (Ueda, J.)

  3. Natural History of Infantile GM2 Gangliosidosis

    Science.gov (United States)

    Bley, Annette E.; Giannikopoulos, Ourania A.; Hayden, Doug; Kubilus, Kim; Tifft, Cynthia J.

    2011-01-01

    OBJECTIVE: GM2 gangliosidoses are caused by an inherited deficiency of lysosomal β-hexosaminidase and result in ganglioside accumulation in the brain. Onset during infancy leads to rapid neurodegeneration and death before 4 years of age. We set out to quantify the rate of functional decline in infantile GM2 gangliosidosis on the basis of patient surveys and a comprehensive review of existing literature. METHODS: Patients with infantile GM2 gangliosidosis (N = 237) were surveyed via questionnaire by the National Tay Sachs & Allied Diseases Association (NTSAD). These data were supplemented by survival data from the NTSAD database and a literature survey. Detailed retrospective surveys from 97 patients were available. Five patients who had received hematopoietic stem cell transplantation were evaluated separately. The mortality rate of the remaining 92 patients was comparable to that of the 103 patients from the NTSAD database and 121 patients reported in the literature. RESULTS: Common symptoms at onset were developmental arrest (83%), startling (65%), and hypotonia (60%). All 55 patients who had learned to sit without support lost that ability within 1 year. Individual functional measures correlated with each other but not with survival. Gastric tube placement was associated with prolonged survival. Tay Sachs and Sandhoff variants did not differ. Hematopoietic stem cell transplantation was not associated with prolonged survival. CONCLUSIONS: We studied the timing of regression in 97 cases of infantile GM2 gangliosidosis and conclude that clinical disease progression does not correlate with survival, likely because of the impact of improved supportive care over time. However, functional measures are quantifiable and can inform power calculations and study design of future interventions. PMID:22025593

  4. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    Science.gov (United States)

    Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury‐Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

    2006-01-01

    Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder

  5. Clinical evaluation and MRI findings in early infantile epileptic encephalopathy with suppression-burst

    International Nuclear Information System (INIS)

    Konishi, Hideki; Kodama, Soichi; Momota, Keiko

    1988-01-01

    The clinical courses and a follow-up study on the MRI findings in four cases with early infantile epileptic encephalopathy (EIEE) are reported. The patients consisted of one male and three females. The age at onset was before 15 days on life and the etiology was unknown in all cases. EEG improvement and a decrease in seizure frequency were seen after treatment with ACTH and anticonvulsants in three of the four patients, while no treatment was effective in the other patient who developed Lennox-Gastaut syndrome through West syndrome. Psychomotor development of all patients was severely retarded, and it was impossible for three cases to gain head control until 12 months old. MRI findings revealed dysmyelination of white matter in the cerebrum in three patients and asymmetrical myelination in the other patient. These results suggested that EIEE is based on brain immaturity combined with dysmyelination. (author)

  6. Clinical evaluation and MRI findings in early infantile epileptic encephalopathy with suppression-burst

    Energy Technology Data Exchange (ETDEWEB)

    Konishi, Hideki; Kodama, Soichi; Momota, Keiko and others

    1988-02-01

    The clinical courses and a follow-up study on the MRI findings in four cases with early infantile epileptic encephalopathy (EIEE) are reported. The patients consisted of one male and three females. The age at onset was before 15 days on life and the etiology was unknown in all cases. EEG improvement and a decrease in seizure frequency were seen after treatment with ACTH and anticonvulsants in three of the four patients, while no treatment was effective in the other patient who developed Lennox-Gastaut syndrome through West syndrome. Psychomotor development of all patients was severely retarded, and it was impossible for three cases to gain head control until 12 months old. MRI findings revealed dysmyelination of white matter in the cerebrum in three patients and asymmetrical myelination in the other patient. These results suggested that EIEE is based on brain immaturity combined with dysmyelination.

  7. Dibujo infantil como medio de diagnostico

    OpenAIRE

    González Hernando, Elisa

    2015-01-01

    Con este documento se pretende demostrar la importancia que tiene el dibujo infantil en el correcto desarrollo integral de las personas. Se estudia la importancia del dibujo y su valor a la hora de utilizarlo como método de diagnóstico ante determinados aspectos que pueden determinar la vida de una persona. En definitiva lo que se desarrolla en este trabajo de Fin de Grado es el papel que juega el dibujo como herramienta para el seguimiento del desarrollo de los individuos centrándonos ...

  8. A obesidade infantil: um problema emergente

    OpenAIRE

    Sousa, Joana; Loureiro, Isabel; Carmo, Isabel do

    2008-01-01

    A obesidade é um dos problemas de saúde mais graves que afecta crianças e adolescentes a nível mundial. As evidências sugerem que o problema está a agravar-se rapidamente. O aumento da prevalência de obesidade infantil pode fazer com que a próxima geração apresente indicadores de obesidade no adulto superiores aos indicadores actuais. Pelo facto de a obesidade estar intimamente associada a diferentes patologias crónicas faz com que estejamos perante um enorme desafio para o sistema de cuidado...

  9. Reflexo do consumismo infantil no ambiente escolar

    OpenAIRE

    Camargo, Sônia de Fátima; Vieira Júnior, Hélio

    2011-01-01

    Este artigo propôs verificar se há reflexos do consumismo infantil no ambiente escolar. Se á fatores que influenciam nas interações afetivas e subjetivas dos alunos das séries iniciais do Ensino Fundamental na Escola Municipal Professora Ana Cristina de sena município de Sinop – MT. O objetivo do trabalho foi investigar as relações interpessoais em sala de aula e de que forma essas relações acontecem diante do consumismo. Como fundamentação teórica, recorremos aos autores, Zygmunt Bauman, Ann...

  10. Obesidad infantil y consumo de bebidas azucaradas

    OpenAIRE

    Coronel, Julia

    2011-01-01

    La obesidad infantil es un importante problema de salud pública, por su prevalencia y consecuencias sobre las expectativas y la calidad de vida. La pediatría no deja de ser, en cada minuto del crecimiento de los niños, un momento para aprovechar y para poder decir qué tenemos y cómo tenemos que comer, tanto en cantidad como en calidad de nutrientes. El siguiente trabajo de investigación, realizado en la ciudad de Mar del Plata, tiene como objetivo determinar cómo incide el c...

  11. Obesidade infantil: uma proposta de tratamento comportamental

    OpenAIRE

    Cruz, Maria Tereza Monteiro da

    2012-01-01

    O objetivo da presente pesquisa foi avaliar um programa de economia de fichas para modificar o comportamento de crianças obesas. Participaram do estudo dois jovens do sexo masculino com idades de 10 e 11 anos uma adolescente com 15 anos, todos apresentavam peso excessivo para a idade e freqüentavam uma ONG voltada para o tratamento da obesidade infantil e suas mães. A pesquisadora emprestou uma filmadora para os participantes e solicitou que P1 filmasse o almoço e o jantar cinc...

  12. Hemophilia and child abuse as possible causes of epidural hematoma: case report Hemofilia e abuso infantil como possíveis causas de hematoma extradural: relato de caso

    Directory of Open Access Journals (Sweden)

    Fernando Campos Gomes Pinto

    2003-12-01

    Full Text Available INTRODUCTION: Head trauma is an important consequence of child abuse. Specific pathophysiological mechanisms in child abuse are responsible for the ''whiplash shaken-baby syndrome'', which would favour the occurrence of intracranial hemorrhages. CASE REPORT: We report the case of a child who developed epidural hematoma following minor-intensity head trauma. Initial diagnosis of child abuse was made, but subsequent investigation led to the diagnosis of hemophilia A. CONCLUSION: Even though epidural hematoma is not closely associated with child abuse, this aethiology must always be considered when the reported trauma mechanism is out of proportion to the magnitude of the encountered lesions.INTRODUÇÃO: Traumatismo crânio-encefálico é importante conseqüência de abuso infantil. Mecanismos fisiopatológicos específicos do abuso infantil são responsáveis pela ''whiplash shaken-baby syndrome'', o que favoreceria o aparecimento de hemorragias intracranianas. RELATO DE CASO: Relatamos o caso de uma criança que desenvolveu hematoma extradural após trauma de pequena intensidade. Foi feito diagnóstico inicial de abuso infantil, mas investigações subseqüentes levaram ao diagnóstico de hemofilia A. CONCLUSÃO: Embora o hematoma extradural não esteja intimamente relacionado com abuso infantil, esta etiologia deve ser sempre considerada quando o mecanismo de trauma relatado estiver fora de proporção com as lesões encontradas.

  13. Genç erkek esansiyel tremor hastalarında anksiyete ve depresyon düzeyleri

    OpenAIRE

    Yaşar, Halit; Balıbey, Hakan; Tekeli, Hakan; Alay, Semih; Şenol, Mehmet Güney; Türker, Türker; Bayar, Nalan

    2014-01-01

    Objective: Essential tremor (ET), characterized by postural and kinetic tremor seen on hands and arms, is the most common movement disorder that causes significant disability. Besides the motor symptoms such as tremor, ET is also often accompanied by psychiatric symptoms such as anxiety and depression. We identified our objectives as to compare the level of anxiety and depression in young male patients with ET with the normal and to determine the relationship between this level and tremor sev...

  14. Connectivity derived thalamic segmentation in deep brain stimulation for tremor

    Directory of Open Access Journals (Sweden)

    Harith Akram

    Full Text Available The ventral intermediate nucleus (VIM of the thalamus is an established surgical target for stereotactic ablation and deep brain stimulation (DBS in the treatment of tremor in Parkinson's disease (PD and essential tremor (ET. It is centrally placed on a cerebello-thalamo-cortical network connecting the primary motor cortex, to the dentate nucleus of the contralateral cerebellum through the dentato-rubro-thalamic tract (DRT. The VIM is not readily visible on conventional MR imaging, so identifying the surgical target traditionally involved indirect targeting that relies on atlas-defined coordinates. Unfortunately, this approach does not fully account for individual variability and requires surgery to be performed with the patient awake to allow for intraoperative targeting confirmation. The aim of this study is to identify the VIM and the DRT using probabilistic tractography in patients that will undergo thalamic DBS for tremor. Four male patients with tremor dominant PD and five patients (three female with ET underwent high angular resolution diffusion imaging (HARDI (128 diffusion directions, 1.5 mm isotropic voxels and b value = 1500 preoperatively. Patients received VIM-DBS using an MR image guided and MR image verified approach with indirect targeting. Postoperatively, using parallel Graphical Processing Unit (GPU processing, thalamic areas with the highest diffusion connectivity to the primary motor area (M1, supplementary motor area (SMA, primary sensory area (S1 and contralateral dentate nucleus were identified. Additionally, volume of tissue activation (VTA corresponding to active DBS contacts were modelled. Response to treatment was defined as 40% reduction in the total Fahn-Tolosa-Martin Tremor Rating Score (FTMTRS with DBS-ON, one year from surgery. Three out of nine patients had a suboptimal, long-term response to treatment. The segmented thalamic areas corresponded well to anatomically known counterparts in the ventrolateral

  15. Continuous theta-burst stimulation of the primary motor cortex in essential tremor

    DEFF Research Database (Denmark)

    Hellriegel, Helge; Schulz, Eva M; Siebner, Hartwig R

    2012-01-01

    We investigated whether essential tremor (ET) can be altered by suppressing the corticospinal excitability in the primary motor cortex (M1) with transcranial magnetic stimulation.......We investigated whether essential tremor (ET) can be altered by suppressing the corticospinal excitability in the primary motor cortex (M1) with transcranial magnetic stimulation....

  16. Emotion modulation of the startle reflex in essential tremor: Blunted reactivity to unpleasant and pleasant pictures.

    Science.gov (United States)

    Lafo, Jacob A; Mikos, Ania; Mangal, Paul C; Scott, Bonnie M; Trifilio, Erin; Okun, Michael S; Bowers, Dawn

    2017-01-01

    Essential tremor is a highly prevalent movement disorder characterized by kinetic tremor and mild cognitive-executive changes. These features are commonly attributed to abnormal cerebellar changes, resulting in disruption of cerebellar-thalamo-cortical networks. Less attention has been paid to alterations in basic emotion processing in essential tremor, despite known cerebellar-limbic interconnectivity. In the current study, we tested the hypothesis that a psychophysiologic index of emotional reactivity, the emotion modulated startle reflex, would be muted in individuals with essential tremor relative to controls. Participants included 19 essential tremor patients and 18 controls, who viewed standard sets of unpleasant, pleasant, and neutral pictures for six seconds each. During picture viewing, white noise bursts were binaurally presented to elicit startle eyeblinks measured over the orbicularis oculi. Consistent with past literature, controls' startle eyeblink responses were modulated according to picture valence (unpleasant > neutral > pleasant). In essential tremor participants, startle eyeblinks were not modulated by emotion. This modulation failure was not due to medication effects, nor was it due to abnormal appraisal of emotional picture content. Neuroanatomically, it remains unclear whether diminished startle modulation in essential tremor is secondary to aberrant cerebellar input to the amygdala, which is involved in priming the startle response in emotional contexts, or due to more direct disruption between the cerebellum and brainstem startle circuitry. If the former is correct, these findings may be the first to reveal dysregulation of emotional networks in essential tremor. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. Multicentre European study of thalamic stimulation in parkinsonian and essential tremor

    NARCIS (Netherlands)

    Limousin, P.; Speelman, J. D.; Gielen, F.; Janssens, M.

    1999-01-01

    Thalamic stimulation has been proposed to treat disabling tremor. The aims of this multicentre study were to evaluate the efficacy and the morbidity of thalamic stimulation in a large number of patients with parkinsonian or essential tremor. One hundred and eleven patients were included in the study

  18. Wavelet coherence analysis: A new approach to distinguish organic and functional tremor types.

    Science.gov (United States)

    Kramer, G; Van der Stouwe, A M M; Maurits, N M; Tijssen, M A J; Elting, J W J

    2018-01-01

    To distinguish tremor subtypes using wavelet coherence analysis (WCA). WCA enables to detect variations in coherence and phase difference between two signals over time and might be especially useful in distinguishing functional from organic tremor. In this pilot study, polymyography recordings were studied retrospectively of 26 Parkinsonian (PT), 26 functional (FT), 26 essential (ET), and 20 enhanced physiological (EPT) tremor patients. Per patient one segment of 20 s in duration, in which tremor was present continuously in the same posture, was selected. We studied several coherence and phase related parameters, and analysed all possible muscle combinations of the flexor and extensor muscles of the upper and fore arm. The area under the receiver operating characteristic curve (AUC-ROC) was applied to compare WCA and standard coherence analysis to distinguish tremor subtypes. The percentage of time with significant coherence (PTSC) and the number of periods without significant coherence (NOV) proved the most discriminative parameters. FT could be discriminated from organic (PT, ET, EPT) tremor by high NOV (31.88 vs 21.58, 23.12 and 10.20 respectively) with an AUC-ROC of 0.809, while standard coherence analysis resulted in an AUC-ROC of 0.552. EMG-EMG WCA analysis might provide additional variables to distinguish functional from organic tremor. WCA might prove to be of additional value to discriminate between tremor types. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  19. Tremor-tide correlations and near-lithostatic pore pressure on the deep San Andreas fault.

    Science.gov (United States)

    Thomas, Amanda M; Nadeau, Robert M; Bürgmann, Roland

    2009-12-24

    Since its initial discovery nearly a decade ago, non-volcanic tremor has provided information about a region of the Earth that was previously thought incapable of generating seismic radiation. A thorough explanation of the geologic process responsible for tremor generation has, however, yet to be determined. Owing to their location at the plate interface, temporal correlation with geodetically measured slow-slip events and dominant shear wave energy, tremor observations in southwest Japan have been interpreted as a superposition of many low-frequency earthquakes that represent slip on a fault surface. Fluids may also be fundamental to the failure process in subduction zone environments, as teleseismic and tidal modulation of tremor in Cascadia and Japan and high Poisson ratios in both source regions are indicative of pressurized pore fluids. Here we identify a robust correlation between extremely small, tidally induced shear stress parallel to the San Andreas fault and non-volcanic tremor activity near Parkfield, California. We suggest that this tremor represents shear failure on a critically stressed fault in the presence of near-lithostatic pore pressure. There are a number of similarities between tremor in subduction zone environments, such as Cascadia and Japan, and tremor on the deep San Andreas transform, suggesting that the results presented here may also be applicable in other tectonic settings.

  20. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A-II in Newborn Piglets

    NARCIS (Netherlands)

    de Groof, Ad; Deijs, Martin; Guelen, Lars; van Grinsven, Lotte; van Os-Galdos, Laura; Vogels, Wannes; Derks, Carmen; Cruijsen, Toine; Geurts, Victor; Vrijenhoek, Mieke; Suijskens, Janneke; van Doorn, Peter; van Leengoed, Leo; Schrier, Carla; van der Hoek, Lia

    2016-01-01

    Congenital tremor type A-II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently-described virus: atypical porcine pestivirus (APPV). Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms

  1. Deep Brain Stimulation for Essential Tremor: Aligning Thalamic and Posterior Subthalamic Targets in 1 Surgical Trajectory

    NARCIS (Netherlands)

    Bot, Maarten; van Rootselaar, Fleur; Contarino, Maria Fiorella; Odekerken, Vincent; Dijk, Joke; de Bie, Rob; Schuurman, Richard; van den Munckhof, Pepijn

    2017-01-01

    Ventral intermediate nucleus (VIM) deep brain stimulation (DBS) and posterior subthalamic area (PSA) DBS suppress tremor in essential tremor (ET) patients, but it is not clear which target is optimal. Aligning both targets in 1 surgical trajectory would facilitate exploring stimulation of either

  2. Comprehensive, blinded assessment of balance in orthostatic tremor.

    Science.gov (United States)

    Bhatti, Danish; Thompson, Rebecca; Xia, Yiwen; Hellman, Amy; Schmaderer, Lorene; Suing, Katie; McKune, Jennifer; Penke, Cynthia; Iske, Regan; Roeder, Bobbi Jo; Siu, Ka-Chun; Bertoni, John M; Torres-Russotto, Diego

    2018-02-01

    Orthostatic Tremor (OT) is a movement disorder characterized by a sensation of unsteadiness and tremors in the 13-18 Hz range present upon standing. The pathophysiology of OT is not well understood but there is a relationship between the sensation of instability and leg tremors. Despite the sensation of unsteadiness, OT patients do not fall often and balance in OT has not been formally assessed. We present a prospective blinded study comparing balance assessment in patients with OT versus healthy controls. We prospectively enrolled 34 surface Electromyography (EMG)-confirmed primary OT subjects and 21 healthy controls. Participants underwent evaluations of balance by blinded physical therapists (PT) with standardized, validated, commonly used balance scales and tasks. OT subjects were mostly female (30/34, 88%) and controls were majority males (13/20, 65%). The average age of OT subjects was 68.5 years (range 54-87) and for controls was 69.4 (range 32-86). The average duration of OT symptoms was 18 years. OT subjects did significantly worse on all the balance scales and on most balance tasks including Berg Balance Scale, Functional Gait Assessment, Dynamic Gait Index, Unipedal Stance Test, Functional Reach Test and pull test. Gait speed and five times sit to stand were normal in OT. Common validated balance scales are significantly abnormal in primary OT. Despite the objective finding of impaired balance, OT patients do not commonly have falls. The reported sensation of unsteadiness in this patient population seems to be out of proportion to the number of actual falls. Further studies are needed to determine which components of commonly used balance scales are affected by a sensation of unsteadiness and fear of falling. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Inhibition of Parkinsonian tremor with cutaneous afferent evoked by transcutaneous electrical nerve stimulation.

    Science.gov (United States)

    Hao, Man-Zhao; Xu, Shao-Qin; Hu, Zi-Xiang; Xu, Fu-Liang; Niu, Chuan-Xin M; Xiao, Qin; Lan, Ning

    2017-07-14

    Recent study suggests that tremor signals are transmitted by way of multi-synaptic corticospinal pathway. Neurophysiological studies have also demonstrated that cutaneous afferents exert potent inhibition to descending motor commands by way of spinal interneurons. We hypothesize in this study that cutaneous afferents could also affect the transmission of tremor signals, thus, inhibit tremor in patients with PD. We tested this hypothesis by activating cutaneous afferents in the dorsal hand skin innervated by superficial radial nerve using transcutaneous electrical nerve stimulation (TENS). Eight patients with PD having tremor dominant symptom were recruited to participate in this study using a consistent experimental protocol for tremor inhibition. Resting tremor and electromyogram (EMG) of muscles in the upper extremity of these subjects with PD were recorded, while surface stimulation was applied to the dorsal skin of the hand. Fifteen seconds of data were recorded for 5 s prior to, during and post stimulation. Power spectrum densities (PSDs) of tremor and EMG signals were computed for each data segment. The peak values of PSDs in three data segments were compared to detect evidence of tremor inhibition. At stimulation intensity from 1.5 to 1.75 times of radiating sensation threshold, apparent suppressions of tremor at wrist, forearm and upper arm and in the EMGs were observed immediately at the onset of stimulation. After termination of stimulation, tremor and rhythmic EMG bursts reemerged gradually. Statistical analysis of peak spectral amplitudes showed a significant difference in joint tremors and EMGs during and prior to stimulation in all 8 subjects with PD. The average percentage of suppression was 61.56% in tremor across all joints of all subjects, and 47.97% in EMG of all muscles. The suppression appeared to occur mainly in distal joints and muscles. There was a slight, but inconsistent effect on tremor frequency in the 8 patients with PD tested. Our

  4. Geomorphological and Geoelectric Techniques for Kwoi's Multiple Tremor Assessment

    Science.gov (United States)

    Dikedi, P. N.

    2017-12-01

    This work epicentres on geomorphological and geoelectric techniques for multiple tremor assessment in Kwoi, Nigeria. Earth tremor occurrences have been noted by Akpan and Yakubu (2010) within the last 70 years, in nine regions in Nigeria; on September 11,12,20,22, 23 and 24, 2016, additional earth tremors rocked the village of Kwoi eleven times. Houses cracked and collapsed, a rock split and slid and smoke evolved at N9027''5.909''', E800'44.951'', from an altitude of 798m. By employing the Ohmega Meter and Schlumberger configuration, four VES points are sounded for subsurface structure characterisation. Thereafter, a cylindrical steel ring is hammered into the ground at the first point (VES 1) and earth samples are scooped from this location; this procedure is repeated for other points (VES 2, 3 and 4). Winresist, Geo-earth, and Surfer version 12.0.626 software are employed to generate geo-sections, lithology, resistivity profile, Iso resistivity and Isopach maps, of the region. Outcome of results reveal some lithological formations of lateritic topsoil, fractured basement and fresh basement; additionally, results reveal 206.6m, 90.7m, 73.2m and 99.4m fractured basement thicknesses for four points. Scooped samples are transferred to the specimen stage of a Scanning Electron Microscope (SEM). SEM images show rounded inter-granular boundaries—the granular structures act like micro-wheels making the upper crustal mass susceptible to movement at the slightest vibration. Collapsed buildings are sited around VES1 location; samples from VES 1 are the most well fragmented sample owing to multiple microfractures—this result explains why VES 1 has the thickest fractured basement. Abrupt frictional sliding occurs between networks of fault lines; there is a likelihood that friction is most intense at the rock slide site on N9027'21.516'' and E800'44.9993'', VES 1 at N9027'5.819'' and E8005'3.1120'' and smoke sites—holo-centres are suspected below these locations. The

  5. Ethosuximide for Essential Tremor: An Open-Label Trial

    OpenAIRE

    Gironell, Alexandre; Marin-Lahoz, Juan

    2016-01-01

    Background: T-type calcium channel activation has been postulated to underlie rhythmicity in the olivo-cerebellar system that is implicated in ET. Ethosuximide reduces T-type calcium currents and can suppress tremor in two animal models of ET. We explored the effects of ethosuximide in subjects with ET in an open-label trial using both clinical scales and accelerometric recordings measures. We initially planned to conduct the trial with 15 patients, but due to lack of efficacy and a high inci...

  6. Building a Global Catalog of Nonvolcanic Tremor Events Using an Automatic Detection Algorithm

    Science.gov (United States)

    Bagley, B. C.; Revenaugh, J.

    2009-12-01

    Nonvolcanic tremor is characterized by a long-period seismic event containing a series of low-frequency earthquakes (LFEs). Tremor has been detected in regions of subduction (e.g. Kao et. al. 2007, 2008; Shelly 2006) and beneath the San Andreas fault near Cholame, California (e.g. Nadeau and Dolenc, 2005). In some cases tremor events seem to have periodicity, and these are often referred to as episodic tremor and slip (ETS). The origin of nonvolcanic tremor has been ascribed to shear slip along plate boundaries and/or high pore-fluid pressure. The apparent periodicity and tectonic setting associated with ETS has led to the suggestion that there may be a link between ETS and megathrust earthquakes. Until recently tremor detection has been a manual process requiring visual inspection of seismic data. In areas that have dense seismic arrays (e.g. Japan) waveform cross correlation techniques have been successfully employed (e.g. Obara, 2002). Kao et al. (2007) developed an algorithm for automatic detection of seismic tremor that can be used in regions without dense arrays. This method has been used to create the Tremor Activity Monitoring System (TAMS), which is used by the Geologic Survey of Canada to monitor northern Cascadia. So far the study of nonvolcanic tremor has been limited to regions of subduction or along major transform faults. It is unknown if tremor events occur in other tectonic settings, or if the current detection schemes will be useful for finding them. We propose to look for tremor events in non-subduction regions. It is possible that if tremor exists in other regions it will have different characteristics and may not trigger the TAMS system or be amenable to other existing detection schemes. We are developing algorithms for searching sparse array data sets for quasi-harmonic energy bursts in hopes of recognizing and cataloging nonvolcanic tremor in an expanded tectonic setting. Statistical comparisons against the TAMS algorithm will be made if

  7. Possible deep fault slip preceding the 2004 Parkfield earthquake, inferred from detailed observations of tectonic tremor

    Science.gov (United States)

    Shelly, David R.

    2009-01-01

    Earthquake predictability depends, in part, on the degree to which sudden slip is preceded by slow aseismic slip. Recently, observations of deep tremor have enabled inferences of deep slow slip even when detection by other means is not possible, but these data are limited to certain areas and mostly the last decade. The region near Parkfield, California, provides a unique convergence of several years of high-quality tremor data bracketing a moderate earthquake, the 2004 magnitude 6.0 event. Here, I present detailed observations of tectonic tremor from mid-2001 through 2008 that indicate deep fault slip both before and after the Parkfield earthquake that cannot be detected with surface geodetic instruments. While there is no obvious short-term precursor, I find unidirectional tremor migration accompanied by elevated tremor rates in the 3 months prior to the earthquake, which suggests accelerated creep on the fault ∼16 km beneath the eventual earthquake hypocenter.

  8. Gratification disorder ("infantile masturbation"): a review.

    Science.gov (United States)

    Nechay, A; Ross, L M; Stephenson, J B P; O'Regan, M

    2004-03-01

    Little has been published on gratification disorder ("infantile masturbation") in early childhood. To expand on the profile of patients diagnosed with this condition. Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972-2002. Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.

  9. Literatura y juego: Las canciones escenificadas infantiles

    Directory of Open Access Journals (Sweden)

    Cerrillo Torremocha, Pedro C.

    2004-12-01

    Full Text Available The main goal of this paper is to analyze the content and structure of stagey children songs (skipping, rows, swing, playing a game standing in a ring.... These songs are considered to be orally-transmitted compositions, necessarily accompanied by an action that requires either staging or specific body language. I focus on those songs that contain popular and traditional ballads, or parts thereof. Reference is also made to the gradual disappearance of these compositions and the impact of this fact on the way children learn them nowadays, before they are put into writing.

    El autor analiza los contenidos y la estructura organizativa de las canciones escenificadas infantiles (corro, comba, filas, columpio..., que son composiciones que van necesariamente acompañadas de una acción que se representa o, cuando menos, de una serie de gestos muy concretos, deteniéndose expresamente en aquellas canciones infantiles en las que sobreviven romances, o partes de romances, de amplia difusión popular en otros tiempos. En el último apartado, el trabajo se refiere al proceso de desaparición que sufren estas composiciones, lo que provoca un aprendizaje diferente de las mismas (previo paso de la oralidad a la escritura por los niños y niñas de hoy.

  10. Infantile encephalitic beriberi: magnetic resonance imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Wani, Nisar A. [Government Medical College Srinagar, Department of Pediatric Radiology, Jammu and Kashmir, Pin (India); Qureshi, Umar A.; Ahmad, Kaiser; Ahmad, Waseem [Government Medical College Srinagar, Department of Pediatrics, Jammu and Kashmir (India); Jehangir, Majid [Government Medical College Srinagar, Department of Radiology, Jammu and Kashmir (India)

    2016-01-15

    Thiamine deficiency in infants is still encountered in developing countries. It may present with acute neurological manifestations of infantile encephalitic beriberi. To review brain MRI findings in infantile encephalitic beriberi from a single institution. A retrospective review of MRI scans in 22 infants with acute-onset beriberi encephalopathy was carried out. Hyperintense lesions on T2-weighted images were seen symmetrically in the putamen in all patients, in the caudate nuclei in 16/22 (73%), the thalami in 7/22 (32%) and the globi pallidi in 3/22 (14%) of the infants. Altered signal intensity lesions in the cerebral cortex were seen in 7/22 (32%). The mammillary bodies were seen in one infant and the periaqueductal gray matter in two. There was restricted diffusion in 14/22 (64%), and 6/8 children with no evidence of restriction had been imaged ≥10 days after presentation. MR spectroscopy showed increased lactate peak in 6/8 infants (75%). Recognition of symmetrical T2-W hyperintense lesions in the basal ganglia with restricted diffusion and prominent lactate peak may allow early diagnosis of encephalitic beriberi in at-risk infants. (orig.)

  11. Cranial computed tomography in infantile spasms

    International Nuclear Information System (INIS)

    Howitz, P.; Neergaard, K.; Pedersen, H.

    1990-01-01

    Out of 109 children with infantile spasms (IS), prospectively tested during the years 1976 to 1979 in Denmark, 52 children were examined by cranial computed tomography (CT). The classification of IS into cryptogenic (CR), symptomatic (SY) and doubtful (DO) was done clinically without considering the CT-finding. Sixty per cent of the scannings were abnormal. Only 6/30 (20%) of the children in ACTH treatment were found to develop cerebral atrophy which means that this finding is not an obligatory side-effect of ACTH treatment of children with IS. Normal CT-findings were found in 50% of the CR and 50% of the SY + DO-groups, and could not be used as a prognostic tool for estimating the mental development. This was also the case for children with cerebral atrophy. Abnormal CT-findings (minus atrophy) were highly correlated to the group with clinical symptoms and indicate an extremely unsatisfying long-term mental prognosis. CT-scanning is a valuable tool for the examination of clearing children with infantile spasms. (authors)

  12. Tremor-genic slow slip regions may be deeper and warmer and may slip slower than non-tremor-genic regions

    Science.gov (United States)

    Montgomery-Brown, Emily; Syracuse, Ellen M.

    2015-01-01

    Slow slip events (SSEs) are observed worldwide and often coincide with tectonic tremor. Notable examples of SSEs lacking observed tectonic tremor, however, occur beneath Kīlauea Volcano, Hawaii, the Boso Peninsula, Japan, near San Juan Bautista on the San Andreas Fault, California, and recently in Central Ecuador. These SSEs are similar to other worldwide SSEs in many ways (e.g., size or duration), but lack the concurrent tectonic tremor observed elsewhere; instead, they trigger swarms of regular earthquakes. We investigate the physical conditions that may distinguish these non-tremor-genic SSEs from those associated with tectonic tremor, including slip velocity, pressure, temperature, fluids, and fault asperities, although we cannot eliminate the possibility that tectonic tremor may be obscured in highly attenuating regions. Slip velocities of SSEs at Kīlauea Volcano (∼10−6 m/s) and Boso Peninsula (∼10−7 m/s) are among the fastest SSEs worldwide. Kīlauea Volcano, the Boso Peninsula, and Central Ecuador are also among the shallowest SSEs worldwide, and thus have lower confining pressures and cooler temperatures in their respective slow slip zones. Fluids also likely contribute to tremor generation, and no corresponding zone of high vp/vs has been noted at Kīlauea or Boso. We suggest that the relatively faster slip velocities at Kīlauea Volcano and the Boso Peninsula result from specific physical conditions that may also be responsible for triggering swarms of regular earthquakes adjacent to the slow slip, while different conditions produce slower SSE velocities elsewhere and trigger tectonic tremor.

  13. Thalamic deep brain stimulation for the treatment of tremor due to multiple sclerosis: a prospective study of tremor and quality of life.

    Science.gov (United States)

    Berk, Caglar; Carr, Jason; Sinden, Marci; Martzke, Jeff; Honey, Christopher R

    2002-10-01

    In several studies a significant reduction in tremor after thalamic deep brain stimulation (DBS) has been reported among patients with multiple sclerosis (MS). It has not been determined if this results in an improved quality of life. In this study the authors prospectively evaluated the effects of thalamic DBS on tremor and quality of life. Videotapes of the patients' tremor were made preoperatively and 2 and 12 months postoperatively, and tremor was scored by a neurologist blinded to the treatment. Patients were tested pre- and postoperatively to measure any changes in their reported ability to perform selected activities of daily living and in their health-related quality of life. Patients were asked to complete a questionnaire about their satisfaction with the surgery. Postoperative changes were examined using paired t-tests. There were significant reductions in postural, action, and overall tremor at 2 and 12 months postoperatively. The patients' reported ability to feed themselves was significantly improved 2 months after surgery (p = 0.01). There were short-term trends toward improvement in reported dressing ability, personal hygiene, and writing. There were no significant changes in the SF-36 subscales or total score. In this cohort of patients with MS who suffered from tremor, thalamic DBS significantly improved their tremor and ability to feed themselves. Patient satisfaction with the procedure, however, was variable. Preoperative patient education about what functions might (and might not) be improved is crucial to avoid unrealistic expectations. Our results indicate that younger patients with MS tremor who had a shorter disease duration and no superimposed ataxia benefited most from this surgery.

  14. Parkinsonian Rest Tremor Is Associated With Modulations of Subthalamic High-Frequency Oscillations.

    Science.gov (United States)

    Hirschmann, Jan; Butz, Markus; Hartmann, Christian J; Hoogenboom, Nienke; Özkurt, Tolga E; Vesper, Jan; Wojtecki, Lars; Schnitzler, Alfons

    2016-10-01

    High frequency oscillations (>200 Hz) have been observed in the basal ganglia of PD patients and were shown to be modulated by the administration of levodopa and voluntary movement. The objective of this study was to test whether the power of high-frequency oscillations in the STN is associated with spontaneous manifestation of parkinsonian rest tremor. The electromyogram of both forearms and local field potentials from the STN were recorded in 11 PD patients (10 men, age 58 [9.4] years, disease duration 9.2 [6.3] years). Patients were recorded at rest and while performing repetitive hand movements before and after levodopa intake. High-frequency oscillation power was compared across epochs containing rest tremor, tremor-free rest, or voluntary movement and related to the tremor cycle. We observed prominent slow (200-300 Hz) and fast (300-400 Hz) high-frequency oscillations. The ratio between slow and fast high-frequency oscillation power increased when tremor became manifest. This increase was consistent across nuclei (94%) and occurred in medication ON and OFF. The ratio outperformed other potential markers of tremor, such as power at individual tremor frequency, beta power, or low gamma power. For voluntary movement, we did not observe a significant difference when compared with rest or rest tremor. Finally, rhythmic modulations of high-frequency oscillation power occurred within the tremor cycle. Subthalamic high-frequency oscillation power is closely linked to the occurrence of parkinsonian rest tremor. The balance between slow and fast high-frequency oscillation power combines information on motor and medication state. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

  15. Tremors in white rhinoceroses (Ceratotherium simum during etorphine–azaperone immobilisation

    Directory of Open Access Journals (Sweden)

    Stephanie S. de Lange

    2017-02-01

    Full Text Available Little is known about the mechanisms causing tremors during immobilisation of rhinoceros and whether cardiorespiratory supportive interventions alter their intensity. Therefore, we set out to determine the possible mechanisms that lead to muscle tremors and ascertain whether cardiorespiratory supportive interventions affect tremor intensity. We studied tremors and physiological responses during etorphine–azaperone immobilisation in eight boma-held and 14 free-living white rhinoceroses. Repeated measures analysis of variance and a Friedman test were used to determine differences in variables over time and between interventions. Spearman and Pearson correlations were used to test for associations between variables. Tremor intensity measured objectively by activity loggers correlated well (p < 0.0001; r2 = 0.9 with visual observations. Tremor intensity was greatest when animals were severely hypoxaemic and acidaemic. Tremor intensity correlated strongly and negatively with partial pressure of oxygen (PaO2 (p = 0.0003; r2 = 0.9995 and potential of hydrogen (pH (p = 0.02, r2 = 0.97. It correlated strongly and positively with adrenaline concentrations (p = 0.003; r2 = 0.96, and adrenaline correlated strongly and negatively with PaO2 (p = 0.03; r2 = 0.95 and pH (p = 0.03; r2 = 0.94. Therefore, hypoxaemia and acidaemia were likely associated with the intensity of tremors through their activation of the release of tremorgenic levels of adrenaline. Tremors can be reduced if circulating adrenaline is reduced, and this can be achieved by the administration of butorphanol plus oxygen insufflation. Furthermore, to assist with reducing the risks associated with rhinoceros immobilisation, tremor intensity could be used as a clinical indicator of respiratory and metabolic compromise.

  16. The changing face of complicated infantile hemangioma treatment

    Energy Technology Data Exchange (ETDEWEB)

    Menapace, Deanna [Creighton University School of Medicine, Phoenix Regional Campus, Phoenix, AZ (United States); Mayo School of Graduate Medical Education-MN, Department of Otorhinolaryngology, Rochester, MN (United States); Mitkov, Mario [Creighton University School of Medicine, Phoenix Regional Campus, Phoenix, AZ (United States); Towbin, Richard [Phoenix Children' s Hospital, Department of Radiology, Phoenix, AZ (United States); Hogeling, Marcia [University of California, Los Angeles, Division of Dermatology, Santa Monica, CA (United States)

    2016-10-15

    Infantile hemangiomas are the most common vascular tumors of infancy. A multidisciplinary approach including dermatologists, otolaryngologists, plastic surgeons, hematologists/oncologists and interventional/diagnostic radiologists is crucial for appropriate management of children with complicated infantile hemangiomas. Since its unforeseen discovery in 2008, propranolol has become the first-line treatment for infantile hemangiomas, eclipsing systemic corticosteroids and radiologic intervention. There are still, however, uncommon indications for more aggressive interventional management. We review the 2014-updated International Society for the Study of Vascular Anomalies (ISSVA) classification for vascular anomalies. Additionally, we suggest management algorithms for complicated lesions, including recommendations for radiologic and surgical intervention. (orig.)

  17. Maternal characteristics and toddler temperament in infantile anorexia.

    Science.gov (United States)

    Chatoor, I; Ganiban, J; Hirsch, R; Borman-Spurrell, E; Mrazek, D A

    2000-06-01

    To explore the association between specific maternal characteristics, maternal perceptions of toddler temperament, and infantile anorexia. Three groups of toddlers (aged 12-37 months) participated in this study: toddlers with infantile anorexia (n = 34), picky eaters (n = 34), and healthy eaters (n = 34). Mothers completed questionnaires that assessed their own eating attitudes, marital satisfaction, and their toddlers' temperament, and an interview that explored their attachment representations. Mothers and toddlers were videotaped during a feeding session, and toddlers were weighed and measured. Temperament ratings differentiated between infantile anorexics and healthy eaters (p anorexia.

  18. Chediak-Higashi syndrome presenting in the accelerated phase

    African Journals Online (AJOL)

    Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic ... Genetic studies suggest a mutation in the lysosomal trafficking ... neuropathy and seizures in adolescence and early adulthood. ... of ataxia, tremors, muscle weakness, sensory loss, cranial nerve. Fig.

  19. Neuroanatomical heterogeneity of essential tremor according to propranolol response.

    Directory of Open Access Journals (Sweden)

    Seok Jong Chung

    Full Text Available BACKGROUND: Recent studies have suggested that essential tremor (ET is a more complex and heterogeneous clinical entity than initially thought. In the present study, we assessed the pattern of cortical thickness and diffusion tensor white matter (WM changes in patients with ET according to the response to propranolol to explore the pathogenesis underlying the clinical heterogeneity of ET. METHODS: A total of 32 patients with drug naive ET were recruited prospectively from the Movement Disorders outpatient clinic. The patients were divided into a propranolol-responder group (n = 18 and a non-responder group (n = 14. We analyzed the pattern of cortical thickness and diffusion tensor WM changes between these two groups and performed correlation analysis between imaging and clinical parameters. RESULTS: There were no significant differences in demographic characteristics, general cognition, or results of detailed neuropsychological tests between the groups. The non-responder group showed more severe cortical atrophy in the left orbitofrontal cortex and right temporal cortex relative to responders. However, the responders exhibited significantly lower fractional anisotropy values in the bilateral frontal, corpus callosal, and right parietotemporal WM compared with the non-responder group. There were no significant clusters where the cortical thickness or WM alterations were significantly correlated with initial tremor severity or disease duration. CONCLUSIONS: The present data suggest that patients with ET have heterogeneous cortical thinning and WM alteration with respect to responsiveness to propranolol, suggesting that propranolol responsiveness may be a predictive factor to determine ET subtypes in terms of neuroanatomical heterogeneity.

  20. Linking Essential Tremor to the Cerebellum: Physiological Evidence.

    Science.gov (United States)

    Filip, Pavel; Lungu, Ovidiu V; Manto, Mario-Ubaldo; Bareš, Martin

    2016-12-01

    Essential tremor (ET), clinically characterized by postural and kinetic tremors, predominantly in the upper extremities, originates from pathological activity in the dynamic oscillatory network comprising the majority of nodes in the central motor network. Evidence indicates dysfunction in the thalamus, the olivocerebellar loops, and intermittent cortical engagement. Pathology of the cerebellum, a structure with architecture intrinsically predisposed to oscillatory activity, has also been implicated in ET as shown by clinical, neuroimaging, and pathological studies. Despite electrophysiological studies assessing cerebellar impairment in ET being scarce, their impact is tangible, as summarized in this review. The electromyography-magnetoencephalography combination provided the first direct evidence of pathological alteration in cortico-subcortical communication, with a significant emphasis on the cerebellum. Furthermore, complex electromyography studies showed disruptions in the timing of agonist and antagonist muscle activation, a process generally attributed to the cerebellum. Evidence pointing to cerebellar engagement in ET has also been found in electrooculography measurements, cerebellar repetitive transcranial magnetic stimulation studies, and, indirectly, in complex analyses of the activity of the ventral intermediate thalamic nucleus (an area primarily receiving inputs from the cerebellum), which is also used in the advanced treatment of ET. In summary, further progress in therapy will require comprehensive electrophysiological and physiological analyses to elucidate the precise mechanisms leading to disease symptoms. The cerebellum, as a major node of this dynamic oscillatory network, requires further study to aid this endeavor.

  1. Linking Essential Tremor to the Cerebellum-Neuroimaging Evidence.

    Science.gov (United States)

    Cerasa, Antonio; Quattrone, Aldo

    2016-06-01

    Essential tremor (ET) is the most common pathological tremor disorder in the world, and post-mortem evidence has shown that the cerebellum is the most consistent area of pathology in ET. In the last few years, advanced neuroimaging has tried to confirm this evidence. The aim of the present review is to discuss to what extent the evidence provided by this field of study may be generalised. We performed a systematic literature search combining the terms ET with the following keywords: MRI, VBM, MRS, DTI, fMRI, PET and SPECT. We summarised and discussed each study and placed the results in the context of existing knowledge regarding the cerebellar involvement in ET. A total of 51 neuroimaging studies met our search criteria, roughly divided into 19 structural and 32 functional studies. Despite clinical and methodological differences, both functional and structural imaging studies showed similar findings but without defining a clear topography of neurodegeneration. Indeed, the vast majority of studies found functional and structural abnormalities in several parts of the anterior and posterior cerebellar lobules, but it remains to be established to what degree these neural changes contribute to clinical symptoms of ET. Currently, advanced neuroimaging has confirmed the involvement of the cerebellum in pathophysiological processes of ET, although a high variability in results persists. For this reason, the translation of this knowledge into daily clinical practice is again partially limited, although new advanced multivariate neuroimaging approaches (machine-learning) are proving interesting changes of perspective.

  2. Ethosuximide for Essential Tremor: An Open-Label Trial

    Science.gov (United States)

    Gironell, Alexandre; Marin-Lahoz, Juan

    2016-01-01

    Background T-type calcium channel activation has been postulated to underlie rhythmicity in the olivo-cerebellar system that is implicated in ET. Ethosuximide reduces T-type calcium currents and can suppress tremor in two animal models of ET. We explored the effects of ethosuximide in subjects with ET in an open-label trial using both clinical scales and accelerometric recordings measures. We initially planned to conduct the trial with 15 patients, but due to lack of efficacy and a high incidence of adverse effects, the trial was stopped after seven patients had participated. Methods Seven patients diagnosed with ET were included in the study. The ethosuximide dose was 500 mg daily (BID). The main outcome measures were: 1) tremor clinical rating scale (TCRS) score, 2) accelerometric recordings, and 3) self-reported disability scale score. Results Five patients completed the study, and two dropped out due to adverse effects. There were no significant changes in clinical scores in motor task performance (TCRS 1+2), daily living activities (TCRS 3), or in the patients’ subjective assessment (TCRS 4) and global appraisal. There were no differences observed for accelerometry data or disability scale scores. Anxiety, nervousness, headache, and dizziness were reported by two patients while on ethosuximide, causing them to stop the trial. No patient preferred to continue ethosuximide treatment. Discussion The results of our exploratory study suggest that ethosuximide is not an effective treatment for ET. PMID:27625899

  3. Ethosuximide for Essential Tremor: An Open-Label Trial

    Directory of Open Access Journals (Sweden)

    Alexandre Gironell

    2016-07-01

    Full Text Available Background: T-type calcium channel activation has been postulated to underlie rhythmicity in the olivo-cerebellar system that is implicated in ET. Ethosuximide reduces T-type calcium currents and can suppress tremor in two animal models of ET. We explored the effects of ethosuximide in subjects with ET in an open-label trial using both clinical scales and accelerometric recordings measures. We initially planned to conduct the trial with 15 patients, but due to lack of efficacy and a high incidence of adverse effects, the trial was stopped after seven patients had participated. Methods: Seven patients diagnosed with ET were included in the study. The ethosuximide dose was 500 mg daily (BID. The main outcome measures were: 1 tremor clinical rating scale (TCRS score, 2 accelerometric recordings, and 3 self-reported disability scale score. Results: Five patients completed the study, and two dropped out due to adverse effects. There were no significant changes in clinical scores in motor task performance (TCRS 1+2, daily living activities (TCRS 3, or in the patients’ subjective assessment (TCRS 4 and global appraisal. There were no differences observed for accelerometry data or disability scale scores. Anxiety, nervousness, headache, and dizziness were reported by two patients while on ethosuximide, causing them to stop the trial. No patient preferred to continue ethosuximide treatment. Discussion: The results of our exploratory study suggest that ethosuximide is not an effective treatment for ET.

  4. Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

    Science.gov (United States)

    Unal Gulsuner, Hilal; Gulsuner, Suleyman; Mercan, Fatma Nazli; Onat, Onur Emre; Walsh, Tom; Shahin, Hashem; Lee, Ming K; Dogu, Okan; Kansu, Tulay; Topaloglu, Haluk; Elibol, Bulent; Akbostanci, Cenk; King, Mary-Claire; Ozcelik, Tayfun; Tekinay, Ayse B

    2014-12-23

    Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation consanguineous Turkish kindred with both essential tremor and Parkinson disease, we carried out whole exome sequencing and pedigree analysis, identifying HTRA2 p.G399S as the allele likely responsible for both conditions. Essential tremor was present in persons either heterozygous or homozygous for this allele. Homozygosity was associated with earlier age at onset of tremor (P relationship to Parkinson disease.

  5. Connectivity derived thalamic segmentation in deep brain stimulation for tremor.

    Science.gov (United States)

    Akram, Harith; Dayal, Viswas; Mahlknecht, Philipp; Georgiev, Dejan; Hyam, Jonathan; Foltynie, Thomas; Limousin, Patricia; De Vita, Enrico; Jahanshahi, Marjan; Ashburner, John; Behrens, Tim; Hariz, Marwan; Zrinzo, Ludvic

    2018-01-01

    The ventral intermediate nucleus (VIM) of the thalamus is an established surgical target for stereotactic ablation and deep brain stimulation (DBS) in the treatment of tremor in Parkinson's disease (PD) and essential tremor (ET). It is centrally placed on a cerebello-thalamo-cortical network connecting the primary motor cortex, to the dentate nucleus of the contralateral cerebellum through the dentato-rubro-thalamic tract (DRT). The VIM is not readily visible on conventional MR imaging, so identifying the surgical target traditionally involved indirect targeting that relies on atlas-defined coordinates. Unfortunately, this approach does not fully account for individual variability and requires surgery to be performed with the patient awake to allow for intraoperative targeting confirmation. The aim of this study is to identify the VIM and the DRT using probabilistic tractography in patients that will undergo thalamic DBS for tremor. Four male patients with tremor dominant PD and five patients (three female) with ET underwent high angular resolution diffusion imaging (HARDI) (128 diffusion directions, 1.5 mm isotropic voxels and b value = 1500) preoperatively. Patients received VIM-DBS using an MR image guided and MR image verified approach with indirect targeting. Postoperatively, using parallel Graphical Processing Unit (GPU) processing, thalamic areas with the highest diffusion connectivity to the primary motor area (M1), supplementary motor area (SMA), primary sensory area (S1) and contralateral dentate nucleus were identified. Additionally, volume of tissue activation (VTA) corresponding to active DBS contacts were modelled. Response to treatment was defined as 40% reduction in the total Fahn-Tolosa-Martin Tremor Rating Score (FTMTRS) with DBS-ON, one year from surgery. Three out of nine patients had a suboptimal, long-term response to treatment. The segmented thalamic areas corresponded well to anatomically known counterparts in the ventrolateral (VL

  6. Variables que intervienen en el abandono físico o negligencia infantil comparativamente con otros tipos de maltrato infantil

    OpenAIRE

    Moreno Manso, Juan Manuel

    2013-01-01

    Es un trabajo de investigación en materia de protección de menores, donde se realiza un análisis comparativo entre las distintas tipologías de maltrato infantil, y más concretamente entre el abandono físico o negligencia infantil y el resto de tipos de maltrato a la infancia. La tesis Doctoral se enmarca en los servicios sociales de protección a la Infancia de la ciudad de Badajoz y es el primer estudio científico sobre el maltrato infantil que se realiza en la Comunidad Autónoma de Extr...

  7. Prevención y promoción del desarrollo infantil: una experiencia en las Escuelas Infantiles

    OpenAIRE

    Ángela Díaz-Herrero; María Teresa Martínez-Fuentes

    2009-01-01

    Este trabajo presenta un programa de prevención y promoción del desarrollo infantil dirigido a 136 niños entre 1 y 3 años de edad escolarizados en escuela infantil entre los cursos académicos 2005-2006 y 2007-2008. Se efectuaron dos valoraciones anuales del desarrollo psicomotor mediante las Escalas Bayley de Desarrollo Infantil (Bayleyayley, 1993). Tras la primera evaluación se dieron recomendaciones tanto a la familia como a los educadores para fortalecer las competencias de los niños. Los ...

  8. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction

    NARCIS (Netherlands)

    Poll-The, B. T.; Saudubray, J. M.; Ogier, H.; Schutgens, R. B.; Wanders, R. J.; Schrakamp, G.; van den Bosch, H.; Trijbels, J. M.; Poulos, A.; Moser, H. W.

    1986-01-01

    Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development. An elevated plasma phytanic acid concentration and a deficient phytanic acid

  9. Genetics Home Reference: early infantile epileptic encephalopathy 1

    Science.gov (United States)

    ... Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder characterized by a type of seizure known as ... 2 links) Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) ...

  10. Infantile Onset Myasthenia Gravis with MuSK Antibodies

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-08-01

    Full Text Available A late infantile case of myasthenia gravis (MG with anti-muscle-specific receptor tyrosine kinase (MuSK high antibody (Ab titer is reported from Kyushu University, Fukuoka; and Nagasaki University, Japan.

  11. Adaptation of feedforward movement control is abnormal in patients with cervical dystonia and tremor.

    Science.gov (United States)

    Avanzino, Laura; Ravaschio, Andrea; Lagravinese, Giovanna; Bonassi, Gaia; Abbruzzese, Giovanni; Pelosin, Elisa

    2018-01-01

    It is under debate whether the cerebellum plays a role in dystonia pathophysiology and in the expression of clinical phenotypes. We investigated a typical cerebellar function (anticipatory movement control) in patients with cervical dystonia (CD) with and without tremor. Twenty patients with CD, with and without tremor, and 17 healthy controls were required to catch balls of different load: 15 trials with a light ball, 25 trials with a heavy ball (adaptation) and 15 trials with a light ball (post-adaptation). Arm movements were recorded using a motion capture system. We evaluated: (i) the anticipatory adjustment (just before the impact); (ii) the extent and rate of the adaptation (at the impact) and (iii) the aftereffect in the post-adaptation phase. The anticipatory adjustment was reduced during adaptation in CD patients with tremor respect to CD patients without tremor and controls. The extent and rate of adaptation and the aftereffect in the post-adaptation phase were smaller in CD with tremor than in controls and CD without tremor. Patients with cervical dystonia and tremor display an abnormal predictive movement control. Our findings point to a possible role of cerebellum in the expression of a clinical phenotype in dystonia. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  12. Role of altered cerebello-thalamo-cortical network in the neurobiology of essential tremor

    Energy Technology Data Exchange (ETDEWEB)

    Lenka, Abhishek; Bhalsing, Ketaki Swapnil; Jhunjhunwala, Ketan [National Institute of Mental Health and Neurosciences, Department of Neurology, Bangalore, Karnataka (India); National Institute of Mental Health and Neurosciences, Department of Clinical Neurosciences, Bangalore, Karnataka (India); Panda, Rajanikant; Saini, Jitender; Bharath, Rose Dawn [National Institute of Mental Health and Neurosciences, Department of Neuroimaging and Interventional Radiology, Bangalore, Karnataka (India); Naduthota, Rajini M.; Yadav, Ravi; Pal, Pramod Kumar [National Institute of Mental Health and Neurosciences, Department of Neurology, Bangalore, Karnataka (India)

    2017-02-15

    Essential tremor (ET) is the most common movement disorder among adults. Although ET has been recognized as a mono-symptomatic benign illness, reports of non-motor symptoms and non-tremor motor symptoms have increased its clinical heterogeneity. The neural correlates of ET are not clearly understood. The aim of this study was to understand the neurobiology of ET using resting state fMRI. Resting state functional MR images of 30 patients with ET and 30 age- and gender-matched healthy controls were obtained. The functional connectivity of the two groups was compared using whole-brain seed-to-voxel-based analysis. The ET group had decreased connectivity of several cortical regions especially of the primary motor cortex and the primary somatosensory cortex with several right cerebellar lobules compared to the controls. The thalamus on both hemispheres had increased connectivity with multiple posterior cerebellar lobules and vermis. Connectivity of several right cerebellar seeds with the cortical and thalamic seeds had significant correlation with an overall score of Fahn-Tolosa-Marin tremor rating scale (FTM-TRS) as well as the subscores for head tremor and limb tremor. Seed-to-voxel resting state connectivity analysis revealed significant alterations in the cerebello-thalamo-cortical network in patients with ET. These alterations correlated with the overall FTM scores as well as the subscores for limb tremor and head tremor in patients with ET. These results further support the previous evidence of cerebellar pathology in ET. (orig.)

  13. Wrist sensor-based tremor severity quantification in Parkinson's disease using convolutional neural network.

    Science.gov (United States)

    Kim, Han Byul; Lee, Woong Woo; Kim, Aryun; Lee, Hong Ji; Park, Hye Young; Jeon, Hyo Seon; Kim, Sang Kyong; Jeon, Beomseok; Park, Kwang S

    2018-04-01

    Tremor is a commonly observed symptom in patients of Parkinson's disease (PD), and accurate measurement of tremor severity is essential in prescribing appropriate treatment to relieve its symptoms. We propose a tremor assessment system based on the use of a convolutional neural network (CNN) to differentiate the severity of symptoms as measured in data collected from a wearable device. Tremor signals were recorded from 92 PD patients using a custom-developed device (SNUMAP) equipped with an accelerometer and gyroscope mounted on a wrist module. Neurologists assessed the tremor symptoms on the Unified Parkinson's Disease Rating Scale (UPDRS) from simultaneously recorded video footages. The measured data were transformed into the frequency domain and used to construct a two-dimensional image for training the network, and the CNN model was trained by convolving tremor signal images with kernels. The proposed CNN architecture was compared to previously studied machine learning algorithms and found to outperform them (accuracy = 0.85, linear weighted kappa = 0.85). More precise monitoring of PD tremor symptoms in daily life could be possible using our proposed method. Copyright © 2018 Elsevier Ltd. All rights reserved.

  14. Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Irene Aicua

    2014-10-01

    Full Text Available Background: X‐linked spinal and bulbar muscular atrophy (SBMA is a rare adult‐onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation is exceedingly rare. Our aim was to describe/document the characteristic signs of tremor in spinal and bulbar muscular atrophy.Case Report: We report a case of a 58‐year‐old male with a positive family history of tremor. On examination, the patient had jaw and hand tremors but he also exhibited gynecomastia, progressive bulbar paresis, and wasting and weakness primarily in the proximal limb muscles. The laboratory tests revealed an elevated creatine phosphokinase. Genetic testing was positive for X‐SBMA, with 42 CAG repeats.Discussion: Essential tremor is one of the most common movement disorders, yet it is important for clinicians to be aware of the presence of other distinguishing features that point to alternative diagnoses. The presence of action tremor associated with muscle atrophy and gynecomastia should lead to a suspicion of SBMA.

  15. Role of altered cerebello-thalamo-cortical network in the neurobiology of essential tremor

    International Nuclear Information System (INIS)

    Lenka, Abhishek; Bhalsing, Ketaki Swapnil; Jhunjhunwala, Ketan; Panda, Rajanikant; Saini, Jitender; Bharath, Rose Dawn; Naduthota, Rajini M.; Yadav, Ravi; Pal, Pramod Kumar

    2017-01-01

    Essential tremor (ET) is the most common movement disorder among adults. Although ET has been recognized as a mono-symptomatic benign illness, reports of non-motor symptoms and non-tremor motor symptoms have increased its clinical heterogeneity. The neural correlates of ET are not clearly understood. The aim of this study was to understand the neurobiology of ET using resting state fMRI. Resting state functional MR images of 30 patients with ET and 30 age- and gender-matched healthy controls were obtained. The functional connectivity of the two groups was compared using whole-brain seed-to-voxel-based analysis. The ET group had decreased connectivity of several cortical regions especially of the primary motor cortex and the primary somatosensory cortex with several right cerebellar lobules compared to the controls. The thalamus on both hemispheres had increased connectivity with multiple posterior cerebellar lobules and vermis. Connectivity of several right cerebellar seeds with the cortical and thalamic seeds had significant correlation with an overall score of Fahn-Tolosa-Marin tremor rating scale (FTM-TRS) as well as the subscores for head tremor and limb tremor. Seed-to-voxel resting state connectivity analysis revealed significant alterations in the cerebello-thalamo-cortical network in patients with ET. These alterations correlated with the overall FTM scores as well as the subscores for limb tremor and head tremor in patients with ET. These results further support the previous evidence of cerebellar pathology in ET. (orig.)

  16. Effect of stretching and proprioceptive loading in hand function among patients with cerebellar tremor

    Directory of Open Access Journals (Sweden)

    Hariharasudhan Ravichandran

    2016-01-01

    Full Text Available Background and Objective: Tremor, the most common form of abnormal involuntary movement, affects the performance of activities of daily living. Evidence on effective form of physiotherapy techniques which can help manage intentional tremor and improve hand function among cerebellar dysfunction patients in inconclusive. Hence, this study aims to establish the effectiveness of stretching and proprioceptive loading among cerebellar patients with intentional tremors. The objective of this study is to compare the efficacy of stretching and proprioceptive loading among patients with cerebellar intention tremor. Materials and Methods: A total of thirty patients with intention tremor due to cerebellar lesion were recruited for this study. They were randomized into two groups, Group I received stretching exercise and Group II received proprioceptive loading exercise. Pre- and post-test outcome measures were taken at the end of duration of 3 weeks intervention. Outcome measures were Fahn's tremor rating scale and nine hole peg test. Results: Statistical analyses were done by McNemar test, Wilcoxon's signed rank test, and Mann–Whitney test. Post-test scores of both groups were compared and found that Group II treated with proprioceptive loading exercise had higher significant result than the group treated with strengthening exercise program. Conclusion: Proprioceptive loading exercise has demonstrated signifi cant effect on reducing cerebellar tremor and improving muscle coordination in reaching activities.

  17. Estimation of pathological tremor from recorded signals based on adaptive sliding fast Fourier transform

    Directory of Open Access Journals (Sweden)

    Shengxin Wang

    2016-06-01

    Full Text Available Pathological tremor is an approximately rhythmic movement and considerably affects patients’ daily living activities. Biomechanical loading and functional electrical stimulation are proposed as potential alternatives for canceling the pathological tremor. However, the performance of suppression methods is associated with the separation of tremor from the recorded signals. In this literature, an algorithm incorporating a fast Fourier transform augmented with a sliding convolution window, an interpolation procedure, and a damping module of the frequency is presented to isolate tremulous components from the measured signals and estimate the instantaneous tremor frequency. Meanwhile, a mechanism platform is designed to provide the simulation tremor signals with different degrees of voluntary movements. The performance of the proposed algorithm and existing procedures is compared with simulated signals and experimental signals collected from patients. The results demonstrate that the proposed solution could detect the unknown dominant frequency and distinguish the tremor components with higher accuracy. Therefore, this algorithm is useful for actively compensating tremor by functional electrical stimulation without affecting the voluntary movement.

  18. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A‐II in Newborn Piglets

    Directory of Open Access Journals (Sweden)

    Ad de Groof

    2016-10-01

    Full Text Available Congenital tremor type A‐II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently‐described virus: atypical porcine pestivirus (APPV. Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested. Piglets on a farm with no history of congenital tremor were PCR‐negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV‐infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR‐negative for the virus, and these piglets were all without congenital tremors. Long‐term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans‐placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A‐II in piglets.

  19. Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A-II in Newborn Piglets.

    Science.gov (United States)

    de Groof, Ad; Deijs, Martin; Guelen, Lars; van Grinsven, Lotte; van Os-Galdos, Laura; Vogels, Wannes; Derks, Carmen; Cruijsen, Toine; Geurts, Victor; Vrijenhoek, Mieke; Suijskens, Janneke; van Doorn, Peter; van Leengoed, Leo; Schrier, Carla; van der Hoek, Lia

    2016-10-04

    Congenital tremor type A-II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently-described virus: atypical porcine pestivirus (APPV). Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested). Piglets on a farm with no history of congenital tremor were PCR-negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV-infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR-negative for the virus, and these piglets were all without congenital tremors. Long-term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans-placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A-II in piglets.

  20. Infantile acne treated with oral isotretinoin

    DEFF Research Database (Denmark)

    Miller, Iben Marie; Echeverría, Begoña; Torrelo, Antonio

    2013-01-01

    In contrast to adolescent acne, infantile acne (IA) is a rare condition with only a limited body of available literature. In this descriptive, retrospective study, we reviewed six cases from 2002 to 2010 treated with oral isotretinoin. The average age of onset was 6.16 months (range 0-21 mos......). Consistent with the previous, limited literature, we found predominantly boys are affected, a predilection for the cheeks, and a polymorphic inflammatory morphology. Two patients had a family history of acne. All cases were successfully and safely treated with oral isotretinoin. The suggested treatment...... of childhood acne is similar to that of adolescents (graded according to the severity of the skin disease and risk of scarring). Oral isotretinoin appears to be an effective and safe treatment for severe IA....

  1. CT images of infantile viral encephalitis

    International Nuclear Information System (INIS)

    Sugimoto, Tateo; Okazaki, Hitoshi; Woo, Man

    1985-01-01

    Cranial CT scanning was undertaken in 40 patients with infantile viral encephalitis seen from 1977 to 1983. According to the pathogenic viruses, abnormal CT findings were detected most frequently in cases of herpes simplex encephalitis (HSE), followed by non-eruptive viral encephalitis, measles encephalitis, and rubella encephalitis in that order, which coincided well with neurological prognosis. Although CT findings lay within a normal range in cases of measles encephalitis, except a case in which cerebral ventricle was slightly dilated, the degree of consciousness disturbance was unfavorable and it persisted long. This revealed that there is no distinct correlation between the degree of consciousness disturbance and CT findings. Normal CT findings were detected in 13% of patients aged less than 5 years and 76.5% of patients aged 5 years or more. In many patients who had an attack of viral encephalitis at the age of 5 years or more, epileptic seizures occurred frequently, even though CT findings were normal. (Namekawa, K.)

  2. Tecnologia simplificada na enfermagem materno infantil

    Directory of Open Access Journals (Sweden)

    Selma Campestrini

    1991-09-01

    Full Text Available A autora apresenta três modelos de tecnologia simplificada da enfermagem materno infantil: o equipamento didático SEIO COBAIA para treinar exercícios e massagens da mama e mamilo; a peça indumentária SUPRETRAUMA - sutiã preventivo de traumatismo mamilar - usado por gestantes; e, a técnica para reverter mamilo umbilicado durante o puerperio imediato. Além de corroborar na promoção do aleitamento materno e na prevenção de desmame precoce, demonstra a possibilidade da enfermagem relacionar o saber teórico-científico com o saber tecnico-prático, na saúde da mulher e da criança, com tecnologia adequada às necessidades, à compreensão e ao bem estar da população.

  3. O brincar criativo e a obesidade infantil

    OpenAIRE

    Mishima,Fernanda Kimie Tavares; Barbieri,Valéria

    2009-01-01

    A obesidade infantil é uma das doenças mais preocupantes atualmente, o estudo de seus fatores psicológicos é escasso, podendo se vincular a características específicas do brincar. Este trabalho objetiva investigar se há algum prejuízo causado pela dificuldade de expressão da criatividade no brincar de crianças obesas e, em caso positivo, qual a sua natureza. Foram realizados cinco estudos de caso com meninos obesos entre 7 e 10 anos, de nível sócio-econômico médio e famílias intactas, com apl...

  4. Smoking during pregnancy and infantile colic

    DEFF Research Database (Denmark)

    Søndergaard, Charlotte; Henriksen, Tine Brink; Obel, Carsten

    2001-01-01

    during this period. Adjustment for maternal age, parity, marital status, alcohol intake, birth weight, gestational age, breastfeeding, caffeine intake postpartum, and paternal smoking did not change the effect measures. Conclusion. The results indicate that maternal smoking during pregnancy may increase......Objective. To evaluate the association between maternal smoking during pregnancy and infantile colic (IC). Methods. A follow-up study of singleton infants delivered by Danish mothers at the Aarhus University Hospital from May 1991 to February 1992 and still living in the municipality of Aarhus...... questionnaire and based on Wessel's criteria, except that we used only the crying criterion. Results. IC was seen in 10.8% of all infants. We observed a twofold increased risk of IC among infants whose mothers smoked 15 or more cigarettes per day during their pregnancy(relative risk: 2.1; 95% confidence...

  5. Infantile fibrosarcoma: radiological and clinical features

    International Nuclear Information System (INIS)

    Vinnicombe, S.J.; Hall, C.M.

    1994-01-01

    Two cases of infantile fibrosarcoma are described. This rare childhood malignancy of mesodermal origin usually affects the lower limbs, as it did in both of our cases. Previously, the only treatment option available involved some form of radical and often mutilating surgery. More recently, combination chemotherapy has given good results, with the effect that various imaging modalities have become important in assessing both the initial extent of disease and the response to treatment. Computed tomography has the advantage of demonstrating the amount of osseous involvement, but at the expense of a considerable dose of ionizing radiation. On the other hand, magnetic resonance imaging, with its multiplanar capacity, gives superior demonstration of breaching of tissue planes, which has important implications for planning of surgery. However, as in other soft tissue tumours, changes in signal characteristics with treatment have proved less specific than was originally anticipated. (orig.)

  6. Maltrato infantil en escuela ecuatoriana de Ambato

    OpenAIRE

    Romero Viamonte, Katherine; Villacís Salazar, Marina Isabel; Jara Vázquez, Ernesto

    2016-01-01

    Introducción: El maltrato infantil se define como el abuso y la desatención de que son objeto los menores de 18 años; incluye el maltrato físico o psicológico, abuso sexual, desatención, negligencia y explotación comercial o de otro tipo que puedan causar un daño a la salud, al desarrollo o la dignidad del niño, y poner en peligro su supervivencia, en el contexto de una relación de responsabilidad, confianza o poder. Método: Se realizó un estudio prospectivo, con enfoque cuali-cuantitativo, m...

  7. Infantile Perineal Protrusion in Two Monochorionic Twins

    Directory of Open Access Journals (Sweden)

    Paola Cavicchioli

    2014-11-01

    Full Text Available Case Report - Two female monochorionic-monoamniotic twins showed the same kind of infantile perineal protrusion (IPP at birth. Lesions in both twins progressively healed until resolution in 6 weeks' time; none of the twins have manifested, till date, alvus disturbances. Discussion and Literature Review - A literature review numbers approximately 100 reports of IPP. This condition has been classically classified into three categories: congenital/familiar (i.e., female sex, positive parental history of IPP, acquired (mainly due to constipation, and associated with lichen sclerosus et atrophicus. Conclusions and Final Remarks - This case report describes, for the first time, the presence of IPP in monochorionic-monoamniotic twins, supporting the existence of hereditary/genetic factors in the developing of this condition.

  8. Solitary infantile choriocarcinoma of the liver: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Hoef, Marianne van der; Willi, Ulrich V.; Huisman, Thierry A.G.M. [University Children' s Hospital Zurich, Department of Diagnostic Imaging, Zurich (Switzerland); Niggli, Felix K. [University Children' s Hospital Zurich, Department of Paediatrics, Zurich (Switzerland)

    2004-10-01

    Infantile hepatic choriocarcinoma is a rare, highly malignant germ-cell tumour believed to result from a choriocarcinoma of the placenta that spreads to the child. Most infants present with a characteristic clinical picture of anaemia, hepatomegaly and precocious puberty. Imaging findings, including conventional MRI, may be non-specific. To improve the accuracy of diagnosis, we present the imaging findings of contrast-enhanced dynamic MRI in a 4.5-month-old boy with infantile hepatic choriocarcinoma. (orig.)

  9. Computer assisted analysis of hand radiographs in infantile hypophosphatasia carriers

    International Nuclear Information System (INIS)

    Chodirker, B.N.; Greenberg, C.R.; Manitoba Univ., Winnipeg, MB; Roy, D.; Cheang, M.; Evans, J.A.; Manitoba Univ., Winnipeg, MB; Manitoba Univ., Winnipeg, MB; Reed, M.H.; Manitoba Univ., Winnipeg, MB

    1991-01-01

    Hand radiographs of 49 carriers of infantile hypophosphatasia and 67 non-carriers were evaluated using two Apple IIe Computer Programs and Apple Graphics Tablet. CAMPS was used to determine the bone lengths and calculate the metacarpophalangeal profiles. A newly developed program (ADAM) was used to determine bone density based on percent cortical area of the second metacarpal. Carriers of infantile hypophosphatasia had significantly less dense bones. (orig.)

  10. Pornografia infantil na Internet: violência sexual ou pornografia?

    Directory of Open Access Journals (Sweden)

    Tatiana Savoia Landini

    2000-01-01

    Full Text Available O artigo versa sobre a proliferação da pornografia infantil na internet. Argumento que uma possível explicação para o aumento dessa troca seja o não entendimento, por parte dos internautas, de que a pornografia infantil é uma forma de violência sexual contra a criança. Essa visão é engendrada pela especificidades da troca desse tipo de material na rede.

  11. Pornografia infantil na Internet: violência sexual ou pornografia?

    OpenAIRE

    Tatiana Savoia Landini

    2000-01-01

    O artigo versa sobre a proliferação da pornografia infantil na internet. Argumento que uma possível explicação para o aumento dessa troca seja o não entendimento, por parte dos internautas, de que a pornografia infantil é uma forma de violência sexual contra a criança. Essa visão é engendrada pela especificidades da troca desse tipo de material na rede.

  12. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

    Science.gov (United States)

    Cloarec, Robin; Bruneau, Nadine; Rudolf, Gabrielle; Massacrier, Annick; Salmi, Manal; Bataillard, Marc; Boulay, Clotilde; Caraballo, Roberto; Fejerman, Natalio; Genton, Pierre; Hirsch, Edouard; Hunter, Alasdair; Lesca, Gaetan; Motte, Jacques; Roubertie, Agathe; Sanlaville, Damien; Wong, Sau-Wei; Fu, Ying-Hui; Rochette, Jacques; Ptáček, Louis J.

    2012-01-01

    ABSTRACT Objective: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported. In order to explore the mutational and clinical spectra, we analyzed 34 additional families with either typical PKD/IC or PKD/IC with migraine. Methods: We performed Sanger sequencing of all PRRT2 coding exons and of exon-intron boundaries in the probands and in their relatives whenever appropriate. Results: Two known and 2 novel PRRT2 mutations were detected in 18 families. The p.R217Pfs*8 recurrent mutation was found in ≈50% of typical PKD/IC, and the unreported p.R145Gfs*31 in one more typical family. PRRT2 mutations were also found in PKD/IC with migraine: p.R217Pfs*8 cosegregated with PKD associated with HM in one family, and was also detected in one IC patient having migraine with aura, in related PKD/IC familial patients having migraine without aura, and in one sporadic migraineur with abnormal MRI. Previously reported p.R240X was found in one patient with PKD with migraine without aura. The novel frameshift p.S248Afs*65 was identified in a PKD/IC family member with IC and migraine with aura. Conclusions: We extend the spectrum of PRRT2 mutations and phenotypes to HM and to other types of migraine in the context of PKD/IC, and emphasize the phenotypic pleiotropy seen in patients with PRRT2 mutations. PMID:23077017

  13. Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer

    DEFF Research Database (Denmark)

    Jønch, Aia Elise; Grønskov, Karen; Lunding, Jytte

    2014-01-01

    Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers...

  14. El maltrato infantil: un problema mundial

    Directory of Open Access Journals (Sweden)

    SANTANA-TAVIRA ROSALINDA

    1998-01-01

    Full Text Available Al abordar el maltrato infantil se presentan diversos problemas: desconocimiento de la verdadera proporción de dicha problemática; raíces culturales e históricas profundas; diversidad de opiniones en cuanto a su definición y clasificación; dificultades en la investigación y, finalmente, una diversidad de consideraciones sobre sus repercusiones y su manejo terapéutico. En el presente artículo se estudia el maltrato infantil desde sus antecedentes históricos, así como sus clasificaciones, sus definiciones y su epidemiología. Asimismo, se revisan las repercusiones y se plantean las alternativas de tratamiento que en la bibliografía existente se han manejado como fundamentales para enfrentar este fenómeno cada vez más alarmante. Queda subrayada la necesidad de unificar criterios en cuanto a la definición y clasificación de información científica en torno a datos demográficos que, finalmente, hablarán de la realidad del problema, de los avances relacionados con sus causas, su diagnóstico, sus medidas preventivas y su tratamiento. Es fundamental utilizar medidas tendientes a prevenir el maltrato, pues una gran parte de los problemas en el niño se ven reflejados en la vida adulta. Se comparan las distintas clasificaciones en torno al tema, así como las características tanto del agredido como del agresor en los distintos tipos de maltrato.

  15. Biomechanical Loading as an Alternative Treatment for Tremor: A Review of Two Approaches

    Directory of Open Access Journals (Sweden)

    Eduardo Rocon

    2012-10-01

    Full Text Available Background: Tremor is the most common movement disorder and strongly increases in incidence and prevalence with aging. Although not life threatening, upper-limb tremors hamper the independence of 65% of people suffering from them affected persons, greatly impacting their quality of life. Current treatments include pharmacotherapy and surgery (thalamotomy and deep brain stimulation. However, these options are not sufficient for approximately 25% of patients. Therefore, further research and new therapeutic options are required to effectively manage pathological tremor.Methods: This paper presents findings of two research projects in which two different wearable robots for tremor management were developed based on force loading and validated. The first consisted of a robotic exoskeleton that applied forces to tremulous limbs and consistently attenuated mild and severe tremors. The second was a neuroprosthesis based on transcutaneous neurostimulation. A total of 22 patients suffering from parkinsonian or essential tremor (ET of different severities were recruited for experimental validation, and both systems were evaluated using standard tasks employed for neurological examination. The inclusion criterion was a postural and/or kinetic pathological upper-limb tremor resistant to medication.Results: The results demonstrate that both approaches effectively suppressed tremor in most patients, although further research is required. The work presented here is based on clinical evidence from a small number of patients (n = 10 for robotic exoskeleton and n = 12 for the neuroprosthesis, but most had a positive response to the approaches. In summary, biomechanical loading is non-invasive and painless. It may be effective in patients who are insufficiently responsive (or have adverse reactions to drugs or in whom surgery is contraindicated.Discussion: This paper identifies and evaluates biomechanical loading approaches to tremor management and

  16. Teleseismically-induced tremor near Parkfield, CA - a cacophony or a symphony?

    Science.gov (United States)

    Vidale, J. E.; Peng, Z.; Creager, K. C.; Bodin, P.

    2007-12-01

    The tremor triggered near Parkfield, CA by the 2002 Denali and 2004 Sumatra earthquakes was strong and well recorded by the dense regional CISN and the borehole HRSN networks. Peng et al. (this meeting) survey tremors triggered by a larger set of 12 regional and teleseismic events, providing a broader context. In the case of both the 2002 M7.9 Denali and 2004 M9.1 Sumatra earthquakes, the tremor emanates from at least two source regions deep within the SAF. The first source region is 40 km NW of the SAFOD in the creeping section of the SAF, and the second region is 40 km SE of the SAFOD near Cholame, close to the location where most of the non-triggered tremor has been found previously (Nadeau and Dolenc, Science, 2005). The Denali earthquake triggered tremor is in phase with the surface waves for about 400s. The northern region started tremoring first by about 100s, and both regions quieted before the end of the surface waves. The wavetrain for the 2004 M9.1 Sumatra earthquake was long enough that tremors were also excited by the weak diffracted P waves, and tremor turned up the volume for an hour upon the arrival of the surface waves, underwent a sudden and curious hiatus for 500s before the end of the surface waves, then re-started and continued for at least an hour after the passage of the surface waves. It is easy to suggest that the tremor was accompanied by deep slip on the SAF, but creep and strain data indicate any slip was too small to generate a detectable surface deformation. These observations suggest a component of driven, instantaneous, perhaps Coulomb-friction response with an added dose of self-sustaining, dribbling activity more suggestive of the oozing of fluids.

  17. Linear and nonlinear tremor acceleration characteristics in patients with Parkinson's disease

    International Nuclear Information System (INIS)

    Meigal, A Yu; Rissanen, S M; Airaksinen, O; Tarvainen, M P; Georgiadis, S D; Karjalainen, P A; Kankaanpää, M

    2012-01-01

    The purpose of the study was to evaluate linear and nonlinear tremor characteristics of the hand in patients with Parkinson's disease (PD) and to compare the results with those of healthy old and young control subjects. Furthermore, the aim was to study correlation between tremor characteristics and clinical signs. A variety of nonlinear (sample entropy, cross-sample entropy, recurrence rate, determinism and correlation dimension) and linear (amplitude, spectral peak frequency and total power, and coherence) hand tremor parameters were computed from acceleration measurements for PD patients (n = 30, 68.3 ± 7.8 years), and old (n = 20, 64.2 ± 7.0 years) and young (n = 20, 18.4 ± 1.1 years) control subjects. Nonlinear tremor parameters such as determinism, sample entropy and cross-sample entropy were significantly different between the PD patients and healthy controls. These parameters correlated with the Unified Parkinson's disease rating scale (UPDRS), tremor and finger tapping scores, but not with the rigidity scores. Linear tremor parameters such as the amplitude and the maximum power (power corresponding to peak frequency) also correlated with the clinical findings. No major difference was detected in the tremor characteristics between old and young control subjects. The study revealed that tremor in PD patients is more deterministic and regular when compared to old or young healthy controls. The nonlinear tremor parameters can differentiate patients with PD from healthy control subjects and these parameters may have potential in the assessment of the severity of PD (UPDRS). (paper)

  18. Illicit stimulant use in humans is associated with a long-term increase in tremor.

    Directory of Open Access Journals (Sweden)

    Stanley C Flavel

    Full Text Available Use of illicit stimulants such as methamphetamine, cocaine, and ecstasy is a significant health problem. The United Nations Office on Drugs and Crime estimates that 14-57 million people use stimulants each year. Chronic use of illicit stimulants can cause neurotoxicity in animals and humans but the long-term functional consequences are not well understood. Stimulant users self-report problems with tremor whilst abstinent. Thus, the aim of the current study was to investigate the long-term effect of stimulant use on human tremor during rest and movement. We hypothesized that individuals with a history of stimulant use would exhibit abnormally large tremor during rest and movement. Tremor was assessed in abstinent ecstasy users (n = 9; 22 ± 3 yrs and abstinent users of amphetamine-like drugs (n = 7; 33 ± 9 yrs and in two control groups: non-drug users (n = 23; 27 ± 8 yrs and cannabis users (n = 12; 24 ± 7 yrs. Tremor was measured with an accelerometer attached to the index finger at rest (30 s and during flexion and extension of the index finger (30 s. Acceleration traces were analyzed with fast-Fourier transform. During movement, tremor amplitude was significantly greater in ecstasy users than in non-drug users (frequency range 3.9-13.3 Hz; P<0.05, but was unaffected in cannabis users or users of amphetamine-like drugs. The peak frequency of tremor did not significantly differ between groups nor did resting tremor. In conclusion, abstinent ecstasy users exhibit an abnormally large tremor during movement. Further work is required to determine if the abnormality translates to increased risk of movement disorders in this population.

  19. Interarytenoid muscle botox injection for treatment of adductor spasmodic dysphonia with vocal tremor.

    Science.gov (United States)

    Kendall, Katherine A; Leonard, Rebecca J

    2011-01-01

    Up to one-third of patients presenting with adductor spasmodic dysphonia will have an associated vocal tremor. These patients may not respond fully to treatment using thyroarytenoid (TA) muscle botulinum toxin (Botox) injection. Treatment failures are attributed to the involvement of multiple muscle groups in the tremor. This study evaluates the results of combined interarytenoid (IA) and TA muscle Botox injection in a group of 27 patients with adductor spasmodic dysphonia and vocal tremor and in four patients with severe vocal tremor alone. Patient-satisfaction data were reviewed retrospectively. Pre- and postinjection acoustic data were collected prospectively. Acoustic measures of fundamental frequency and cycle-by-cycle variability in frequency (jitter) and intensity (shimmer) were obtained from 15 patients' sustained vowel productions. Measures were collected after TA muscle injection, alone, and after combined TA and IA (TA+IA) muscle injections. In addition, two experienced voice clinicians blindly assessed tremor severity from recordings made for each patient in the two conditions. Patients were also queried regarding their satisfaction with the results of the injections and whether they desired to continue receiving TA+IA treatment. Significant improvement in all acoustic measures except for % jitter was observed after the TA+IA muscle injections. Listeners identified voice samples after TA+IA muscle injections as demonstrating less tremor in 73% of the paired comparisons. Sixty-seven percent of the patients with spasmodic dysphonia and vocal tremor wished to continue to receive IA muscle injections. Only one patient with severe vocal tremor wished to continue with injections. The addition of an IA muscle Botox injection to the treatment of patients with a combination adductor spasmodic dysphonia and vocal tremor may improve voice outcomes. Copyright © 2011 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

  20. What many years of tremor reveals about the Mexican Sweet Spot

    Science.gov (United States)

    Husker, A. L.; Avila, L.; Gonzalez, G.; Frank, W.; Kostoglodov, V.

    2017-12-01

    Different temporary seismic deployments have detected and located tectonic tremor in Mexico. These different temporary studies have lasted for a maximum of a few years. However, the long-term SSE's occur every 4 years. The permanent network is too sparse to locate SSEs, however one station is located in the main tremor region and has very low noise. We use spectral detection to create a catalog from its installation in March 2009 to the present. The catalog corresponds with the catalog determined during the temporary GGAP seismic network deployment, which gives us confidence that the single station detection works. Two separate large long term SSEs (2009-2010 and 2014) occur in this time span. We find a good correlation between the tremor and slip at the beginning of the SSEs. However, we find differences in both in the later stages of the SSEs. The 2009-2010 SSE appeared to be ending towards the end of 2009, however it was reactivated by the Feb. 27, 2010 M8.8 Chilean earthquake. The tremor showed a small many day burst (similar to other bursts) associated with the earthquake, but did not resume the high continuous tremor rate associated with the beginning of the SSE or seen during other large SSEs. The tremor rate at the end of the 2014 SSE stayed high for many months after the SSE and did not return to the background inter-SSE rate until the middle of 2015, about 6 months after the SSE ended. The background tremor rate is roughly 1 hour/day and remains constant over the entire period. This rate is actually comprised of many bursts that can last for up to 2 weeks with up to 80 hours of tremor during that time. The very constant long-term tremor rate made up of bursts can be explained by a simple stick-slip model.

  1. La red sobre trabajo infantil peligroso (Red Tip

    Directory of Open Access Journals (Sweden)

    Walter Varillas

    2003-01-01

    Full Text Available En el mundo, aproximadamente 351.7 millones de niños entre 5 y 17 años realizaban algún tipo de actividad económica, de ellos 170.5 millones (48.5% realizaban algún tipo de trabajo considerado peligroso. Un alto porcentaje se encuentra en la agricultura, otros en minas, manufacturas, ladrilleras, predominantemente en la economía informal. El Convenio 138 (cobre la edad mínima de admisión en el empleo de la OIT y el Convenio 182 (sobre las peores formas de trabajo infantil, definen como trabajo infantil peligroso el que puede afectar la salud, seguridad y moralidad de los menores. Estudios específicos sobre los menores muestran su susceptibilidad particular frente a los riesgos laborales, aumentando la peligrosidad para su normal desarrollo y crecimiento: "los niños no son adultos pequeños". Los profesionales de la seguridad y salud en el trabajo pueden colaborar con los profesionales y las organizaciones especializadas en el trabajo infantil, en la definición y caracterización de lo que significa el trabajo infantil peligroso. Para ello se ha conformado la Red sobre Trabajo Infantil Peligroso (Red TIP, con la finalidad de articular estos dos espacios, orientados a eliminar el trabajo infantil peligroso y rescatar al menor y devolverle la oportunidad de sonreír ahora y en el futuro.

  2. Observations of volcanic earthquakes and tremor at Deception Island - Antarctica

    Directory of Open Access Journals (Sweden)

    J. Morales

    1999-06-01

    Full Text Available Deception Island - South Shetlands, Antarctica is site of active volcanism. Since 1988 field surveys have been carried out with the aim of seismic monitoring, and in 1994 a seismic array was set up near the site of the Spanish summer base in order to better constrain the source location and spectral properties of the seismic events related to the volcanic activity. The array was maintained during the Antarctic summer of 1995 and the last field survey was carried out in 1996. Data show the existence of three different groups (or families of seismic events: 1 long period events, with a quasi-monochromatic spectral content (1-3 Hz peak frequency and a duration of more than 50 s, often occurring in small swarms lasting from several minutes to some day; 2 volcanic tremor, with a spectral shape similar to the long period events but with a duration of several minutes (2-10; 3 hybrid events, with a waveform characterised by the presence of a high frequency initial phase, followed by a low frequency phase with characteristics similar to those of the long period events. The high frequency phase of the hybrid events was analysed using polarisation techniques, showing the presence of P waves. This phase is presumably located at short epicentral distances and shallow source depth. All the analysed seismic events show back-azimuths between 120 and 330 degrees from north (corresponding to zones of volcanic activity showing no seismic activity in the middle of the caldera. Particle motion, Fourier spectral and spectrogram analysis show that the low frequency part of the three groups of the seismic signals have similar patterns. Moreover careful observations show that the high frequency phase which characterises the hybrid events is present in the long period and in the tremor events, even with lower signal to noise ratios. This evidence suggests that long period events are events in which the high frequency part is simply difficult to observe, due to a very

  3. Spectrogram analysis of selected tremor signals using short-time Fourier transform and continuous wavelet transform

    Directory of Open Access Journals (Sweden)

    D. Seidl

    1999-06-01

    Full Text Available Among a variety of spectrogram methods Short-Time Fourier Transform (STFT and Continuous Wavelet Transform (CWT were selected to analyse transients in non-stationary tremor signals. Depending on the properties of the tremor signal a more suitable representation of the signal is gained by CWT. Three selected broadband tremor signals from the volcanos Mt. Stromboli, Mt. Semeru and Mt. Pinatubo were analyzed using both methods. The CWT can also be used to extend the definition of coherency into a time-varying coherency spectrogram. An example is given using array data from the volcano Mt. Stromboli.

  4. Probabilistic mapping of deep brain stimulation effects in essential tremor

    Directory of Open Access Journals (Sweden)

    Till A Dembek

    2017-01-01

    Discussion: Our results support the assumption, that the ZI might be a very effective target for tremor suppression. However stimulation inside the ZI and in its close vicinity was also related to the occurrence of stimulation-induced side-effects, so it remains unclear whether the VIM or the ZI is the overall better target. The study demonstrates the use of PSMs for target selection and evaluation. While their accuracy has to be carefully discussed, they can improve the understanding of DBS effects and can be of use for other DBS targets in the therapy of neurological or psychiatric disorders as well. Furthermore they provide a priori information about expected DBS effects in a certain region and might be helpful to clinicians in programming DBS devices in the future.

  5. Eyeblink conditioning is impaired in subjects with essential tremor.

    Science.gov (United States)

    Kronenbuerger, Martin; Gerwig, Marcus; Brol, Beate; Block, Frank; Timmann, Dagmar

    2007-06-01

    Several lines of evidence point to an involvement of the olivo-cerebellar system in the pathogenesis of essential tremor (ET), with clinical signs of cerebellar dysfunction being present in some subjects in the advanced stage. Besides motor coordination, the cerebellum is critically involved in motor learning. Evidence of motor learning deficits would strengthen the hypothesis of olivo-cerebellar involvement in ET. Conditioning of the eyeblink reflex is a well-established paradigm to assess motor learning. Twenty-three ET subjects (13 males, 10 females; mean age 44.3 +/- 22.3 years, mean disease duration 17.4 +/- 17.3 years) and 23 age-matched healthy controls were studied on two consecutive days using a standard delay eyeblink conditioning protocol. Six ET subjects exhibited accompanying clinical signs of cerebellar dysfunction. Care was taken to examine subjects without medication affecting central nervous functioning. Seven ET subjects and three controls on low-dose beta-blocker treatments, which had no effect on eyeblink conditioning in animal studies, were allowed into the study. The ability to acquire conditioned eyeblink responses was significantly reduced in ET subjects compared with controls. Impairment of eyeblink conditioning was not due to low-dose beta-blocker medication. Additionally, acquisition of conditioned eyeblink response was reduced in ET subjects regardless of the presence of cerebellar signs in clinical examination. There were no differences in timing or extinction of conditioned responses between groups and conditioning deficits did not correlate with the degree of tremor or ataxia as rated by clinical scores. The findings of disordered eyeblink conditioning support the hypothesis that ET is caused by a functional disturbance of olivo-cerebellar circuits which may cause cerebellar dysfunction. In particular, results point to an involvement of the olivo-cerebellar system in early stages of ET.

  6. Report on the Aseismic Slip, Tremor, and Earthquakes Workshop

    Science.gov (United States)

    Gomberg, Joan; Roeloffs, Evelyn; Trehu, Anne; Dragert, Herb; Meertens, Charles

    2008-01-01

    This report summarizes the discussions and information presented during the workshop on Aseismic Slip, Tremor, and Earthquakes. Workshop goals included improving coordination among those involved in conducting research related to these phenomena, assessing the implications for earthquake hazard assessment, and identifying ways to capitalize on the education and outreach opportunities presented by these phenomena. Research activities of focus included making, disseminating, and analyzing relevant measurements; the relationships among tremor, aseismic or 'slow-slip', and earthquakes; and discovering the underlying causative physical processes. More than 52 participants contributed to the workshop, held February 25-28, 2008 in Sidney, British Columbia. The workshop was sponsored by the U.S. Geological Survey, the National Science Foundation?s Earthscope Program and UNAVCO Consortium, and the Geological Survey of Canada. This report has five parts. In the first part, we integrate the information exchanged at the workshop as it relates to advancing our understanding of earthquake generation and hazard. In the second part, we summarize the ideas and concerns discussed in workshop working groups on Opportunities for Education and Outreach, Data and Instrumentation, User and Public Needs, and Research Coordination. The third part presents summaries of the oral presentations. The oral presentations are grouped as they were at the workshop in the categories of phenomenology, underlying physical processes, and implications for earthquake hazards. The fourth part contains the meeting program and the fifth part lists the workshop participants. References noted in parentheses refer to the authors of presentations made at the workshop, and published references are noted in square brackets and listed in the Reference section. Appendix A contains abstracts of all participant presentations and posters, which also have been posted online, along with presentations and author contact

  7. Large Contrast Between the Moment Magnitude of Tremor and the Moment Magnitude of Slip in ETS Events

    Science.gov (United States)

    Kao, H.; Wang, K.; Dragert, H.; Rogers, G. C.; Kao, J. Y.

    2009-12-01

    We have developed an algorithm to estimate the moment magnitudes (Mw) of seismic tremors that are recorded during episodic tremor and slip (ETS) events beneath the northern Cascadia margin. The tremor “cloud” during an ETS episode consists of numerous individual tremor bursts. For each tremor burst, the hypocenter is first determined by the Source-Scanning Algorithm [Kao and Shan, 2004]. From the derived source location, we calculate a set of synthetic seismograms for each station based on a fixed seismic moment but different focal mechanisms. The maximum tremor amplitude observed at each station is then compared to that of the synthetics to give an estimate of the corresponding seismic moment of the tremor burst. The seismic moment averaged over all stations is used to calculate the final tremor burst Mw. We have applied this method to local earthquakes for calibration and the results are very consistent with the magnitudes listed in the catalogue. For each of the 8 northern Cascadia ETS episodes whose GPS coverage is sufficient for slip distribution inversion, the cumulative tremor Mw for the entire tremor cloud, determined from the combined moments of all individual tremor bursts in the ETS episode, is ~3 orders less than the corresponding slip Mw in the same episode (e.g., 3.7 vs. 6.7). This result suggests that aseismic slip is the predominant mode of deformation during ETS. The majority of individual tremor bursts in northern Cascadia have Mw ranging between 1.0 and 1.7 with the mean of 1.34. Only 5% of all tremors are larger than 2.0 with the largest being ~2.5.

  8. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

    DEFF Research Database (Denmark)

    Suls, Arvid; Jaehn, Johanna A; Kecskés, Angela

    2013-01-01

    Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet...

  9. Impaired emotion processing in functional (psychogenic tremor: A functional magnetic resonance imaging study

    Directory of Open Access Journals (Sweden)

    Alberto J. Espay

    2018-01-01

    Conclusions: In response to emotional stimuli, functional tremor is associated with alterations in activation and functional connectivity in networks involved in emotion processing and theory of mind. These findings may be relevant to the pathophysiology of functional movement disorders.

  10. Precise tremor source locations and amplitude variations along the lower-crustal central San Andreas Fault

    Science.gov (United States)

    Shelly, David R.; Hardebeck, Jeanne L.

    2010-01-01

    We precisely locate 88 tremor families along the central San Andreas Fault using a 3D velocity model and numerous P and S wave arrival times estimated from seismogram stacks of up to 400 events per tremor family. Maximum tremor amplitudes vary along the fault by at least a factor of 7, with by far the strongest sources along a 25 km section of the fault southeast of Parkfield. We also identify many weaker tremor families, which have largely escaped prior detection. Together, these sources extend 150 km along the fault, beneath creeping, transitional, and locked sections of the upper crustal fault. Depths are mostly between 18 and 28 km, in the lower crust. Epicenters are concentrated within 3 km of the surface trace, implying a nearly vertical fault. A prominent gap in detectible activity is located directly beneath the region of maximum slip in the 2004 magnitude 6.0 Parkfield earthquake.

  11. Effect of propranolol in head tremor: quantitative study following single-dose and sustained drug administration.

    Science.gov (United States)

    Calzetti, S; Sasso, E; Negrotti, A; Baratti, M; Fava, R

    1992-12-01

    The effect of the beta-adrenoceptor antagonist propranolol has been investigated in nine patients suffering from isolated (six patients) or prominent (three patients) essential tremor of the head. In a double-blind, placebo-controlled study the tremorolytic efficacy of propranolol has been assessed by a quantitative accelerometric method after a single oral dose (120 mg) and following 2 weeks of sustained treatment with two different dosage regimens of the drug (120 and 240 mg daily). As compared with placebo, a significant reduction in tremor magnitude was found following a single oral dose but not on sustained administration of the beta-blocker at either dosage. The results suggest that the efficacy of sustained propranolol on isolated or prominent essential head tremor is less predictable and satisfactory than expected on the basis of the single-dose response, as compared with hand tremor.

  12. Adrenergic beta 2-selective blocker in isoprenaline-enhanced essential tremor.

    Science.gov (United States)

    Teräväinen, H; Huttunen, J

    1987-01-01

    A beta 2-selective adrenergic-receptor-blocking drug, ICI 118.551, 150 mg/day, prevented almost as effectively as the nonselective antagonist propranolol, 240 mg/day, the isoprenaline enhancement of essential tremor amplitude.

  13. Detailed Tremor Migration Styles in Guerrero, Mexico Imaged with Cross-station Cross-correlations

    Science.gov (United States)

    Peng, Y.; Rubin, A. M.

    2015-12-01

    Tremor occurred downdip of the area that slipped the most during the 2006 slow slip event (SSE) in Guerrero, Mexico, as opposed to Cascadia, where tremor locations and rupture zones of SSEs largely overlap. Here we obtain high resolution tremor locations by applying cross-station cross-correlations [Armbruster et al., 2014] to seismic data from the Meso-America Subduction Experiment deployment. A few 3-station detectors are adopted to capture detailed deformation styles in the tremor "transient zone" and the downdip "sweet spot" as defined in Frank et al., 2014. Similar to Cascadia, tremor activities in our study region were comprised mostly of short tremor bursts lasting minutes to hours. Many of these bursts show clear migration patterns with propagation velocities of hundreds of km/day, comparable to those in Cascadia. However, the propagation of the main tremor front was often not in a simple unilateral fashion. Before the 2006 SSE, we observe 4 large tremor episodes during which both the transient zone and the sweet spot participated, consistent with previous findings [Frank et al., 2014]. The transient zone usually became active a few days after the sweet spot. We find many along-dip migrations with recurrence intervals of about a half day within a region about 10 km along strike and 35 km along dip in the sweet spot, suggesting possible tidal modulation, after the main front moved beyond this region. These migrations appear not to originate at the main front, in contrast to tremor migrations from a few km to tens of km across observed in Cascadia [Rubin and Armbruster, 2013; Peng et al., 2015; Peng and Rubin, submitted], but possibly similar to Shikoku, Japan [Shelly et al., 2007]. We do not observe obvious half-day periodicity for the migrations farther downdip within the sweet spot. During the SSE, the recurrence interval of tremor episodes decreased significantly in both the transient zone and the sweet spot, with that of the former being much shorter

  14. A Kinematic Model of Slow Slip Constrained by Tremor-Derived Slip Histories in Cascadia

    Science.gov (United States)

    Schmidt, D. A.; Houston, H.

    2016-12-01

    We explore new ways to constrain the kinematic slip distributions for large slow slip events using constraints from tremor. Our goal is to prescribe one or more slip pulses that propagate across the fault and scale appropriately to satisfy the observations. Recent work (Houston, 2015) inferred a crude representative stress time history at an average point using the tidal stress history, the static stress drop, and the timing of the evolution of tidal sensitivity of tremor over several days of slip. To convert a stress time history into a slip time history, we use simulations to explore the stressing history of a small locked patch due to an approaching rupture front. We assume that the locked patch releases strain through a series of tremor bursts whose activity rate is related to the stressing history. To test whether the functional form of a slip pulse is reasonable, we assume a hypothetical slip time history (Ohnaka pulse) timed with the occurrence of tremor to create a rupture front that propagates along the fault. The duration of the rupture front for a fault patch is constrained by the observed tremor catalog for the 2010 ETS event. The slip amplitude is scaled appropriately to match the observed surface displacements from GPS. Through a forward simulation, we evaluate the ability of the tremor-derived slip history to accurately predict the pattern of surface displacements observed by GPS. We find that the temporal progression of surface displacements are well modeled by a 2-4 day slip pulse, suggesting that some of the longer duration of slip typically found in time-dependent GPS inversions is biased by the temporal smoothing. However, at some locations on the fault, the tremor lingers beyond the passage of the slip pulse. A small percentage (5-10%) of the tremor appears to be activated ahead of the approaching slip pulse, and tremor asperities experience a driving stress on the order of 10 kPa/day. Tremor amplitude, rather than just tremor counts, is needed

  15. La literatura infantil como medio de prevención del abuso sexual infantil

    OpenAIRE

    San Emeterio Herrería, Paula

    2016-01-01

    RESUMEN: El maltrato infantil y, especialmente, el abuso sexual a menores, es un fenómeno que siempre ha estado presente y, quizás, hoy en día se detecta en mayor medida, aunque no lo suficiente. La trascendencia de tratar este tema y formular métodos de prevención no solo recae en el número de niños y adolescentes que pueden verse afectados, si no, también, en la dificultad de su detección, así como, en la gravedad de sus consecuencias. Existen abundantes recursos y programas para prevenir e...

  16. Psychiatric disorders in the parents of individuals with infantile autism: a case-control study

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2007-01-01

    The rates and types of psychiatric disorders were studied in the parents of individuals with infantile autism (IA).......The rates and types of psychiatric disorders were studied in the parents of individuals with infantile autism (IA)....

  17. TFG-MET fusion in an infantile spindle cell sarcoma with neural features

    NARCIS (Netherlands)

    Flucke, U.E.; Noesel, M.M. van; Wijnen, M.; Zhang, L.; Chen, C.L.; Sung, Y.S.; Antonescu, C.R.

    2017-01-01

    An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell

  18. Tremor irregularity, torque steadiness and rate of force development in Parkinson's disease

    DEFF Research Database (Denmark)

    Rose, Martin Høyer; Løkkegaard, Annemette; Sonne-Holm, Stig

    2013-01-01

    with idiopathic PD and 15 neurologically healthy matched controls performed isometric maximal contractions (extension/flexion) as well as steady submaximal and powerful isometric knee extensions. The patients with PD showed decreased isometric tremor irregularity. Torque steadiness was reduced in PD...... that both knee isometric tremor Approximate Entropy and torque steadiness clearly differentiate between patients with PD and healthy controls. Furthermore, severely compromised RFD was found in patients with PD and was associated with decreased agonist muscle activation....

  19. Validation of a new tool for automatic assessment of tremor frequency from video recordings

    Czech Academy of Sciences Publication Activity Database

    Uhríková, Z.; Šprdlík, Otakar; Hoskovcová, M.; Komárek, A.; Ulmanová, O.; Hlaváč, V.; Nugent, Ch. D.; Růžička, E.

    2011-01-01

    Roč. 198, č. 1 (2011), s. 110-113 ISSN 0165-0270 R&D Projects: GA MŠk(CZ) 1M0567 Institutional research plan: CEZ:AV0Z10750506 Keywords : Tremor frequency * essential tremor * video analysis * Fourier transformation * accelerometry Subject RIV: BC - Control Systems Theory Impact factor: 1.980, year: 2011 http://library.utia.cas.cz/separaty/2011/TR/sprdlik-0359324.pdf

  20. How to tackle tremor – systematic review of the literature and diagnostic work-up

    Directory of Open Access Journals (Sweden)

    Arthur W.G. Buijink

    2012-10-01

    Full Text Available BackgroundTremor is the most prevalent movement disorder in clinical practice. It is defined as involuntary, rhythmic, oscillatory movements. The diagnostic process of patients with tremor can be laborious and challenging, and a clear, systematic overview of available diagnostic techniques is lacking. Tremor can be a symptom of many diseases, but can also represent a distinct disease entity.ObjectiveThe objective of this review is to give a clear, systematic and step-wise overview of the diagnostic work-up of a patient with tremor. The clinical relevance and value of available laboratory tests in patients with tremor will be explored.MethodsWe systematically searched through EMBASE. The retrieved articles were supplemented by articles containing relevant data or provided important background information. Studies that were included investigated the value and/or usability of diagnostic tests for tremor.ResultsIn most patients, history and clinical examination by an experienced movement disorders neurologist are sufficient to establish a correct diagnosis, and further ancillary examinations will not be needed. Ancillary investigation should always be guided by tremor type(s present and other associated signs and symptoms. The main ancillary examination techniques currently are electromyography and SPECT imaging. Unfortunately, many techniques have not been studied in large prospective, diagnostic studies to be able to determine important variables like sensitivity and specificity.ConclusionWhen encountering a patient with tremor, history and careful clinical examination should guide the diagnostic process. Adherence to the diagnostic work-up provided in this review will help the diagnostic process of these patients.