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The case of Anna O.: a neuropsychiatric perspective.

Previous interpretations have not adequately explained the presence of focal neurological signs, delirium, and a variety of highly specific disturbances of perception, language, and sensorium in the case of Anna O. Examination of the neurological details suggests that Anna suffered from complex partial seizures exacerbated by drug dependence, and that she developed conversion symptoms patterned after the preexisting organic pathology. Hysterical conversion symptoms that mimic ictal events are not uncommon in psychomotor epilepsy. Recent neuropsychiatric models of hysteria are remarkably similar to the hypnoid states theory Breuer formulated, based on his observation of Anna O. The hypothesis presented here does not conflict with previous psychodynamic interpretations. I submit that it was the development of a conversion disorder patterned on actual organic phenomena, which highlighted for Breuer and Freud the "psychical mechanism" of somatic symptoms, thus paving the way for the important psychodynamic discoveries for which the case is remembered.

Austria↗

Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease.

BACKGROUND: Recently described neuronal intermediate filament inclusion disease (NIFID) shows considerable clinical heterogeneity. OBJECTIVE: To assess the spectrum of the clinical and neuropathological features in 10 NIFID cases. METHODS: Retrospective chart and comprehensive neuropathological review of these NIFID cases was conducted. RESULTS: The mean age at onset was 40.8 (range 23 to 56) years, mean disease duration was 4.5 (range 2.7 to 13) years, and mean age at death was 45.3 (range 28 to 61) years. The most common presenting symptoms were behavioral and personality changes in 7 of 10 cases and, less often, memory loss, cognitive impairment, language deficits, and motor weakness. Extrapyramidal features were present in 8 of 10 patients. Language impairment, perseveration, executive dysfunction, hyperreflexia, and primitive reflexes were frequent signs, whereas a minority had buccofacial apraxia, supranuclear ophthalmoplegia, upper motor neuron disease (MND), and limb dystonia. Frontotemporal and caudate atrophy were common. Histologic changes were extensive in many cortical areas, deep gray matter, cerebellum, and spinal cord. The hallmark lesions of NIFID were unique neuronal IF inclusions detected most robustly by antibodies to neurofilament triplet proteins and alpha-internexin. CONCLUSION: NIFID is a neuropathologically distinct, clinically heterogeneous variant of frontotemporal dementia (FTD) that may include parkinsonism or MND. Neuronal IF inclusions are the neuropathological signatures of NIFID that distinguish it from all other FTD variants including FTD with MND and FTD tauopathies.

Adult↗

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.

BACKGROUND: The authors report a three-generation family with four male patients presenting with a novel type of X-chromosomal leukoencephalopathy associated with skeletal abnormalities. METHODS: The index patient and his brother reached their early motor milestones in due time and had normal language development. Between the ages of 2 and 3 years, first signs of spastic paraplegia were noticed. Furthermore, the patients developed tremor, ataxia, optic atrophy, and spastic tetraparesis. Both boys had broad wrists and knees without significant contractures. A maternal uncle and a granduncle had the same disease. RESULTS: Leukoencephalopathy (MRI, MRS) and metaphyseal chondrodysplasia (X-ray, MRI) were diagnosed. MRS showed a reduction of choline-containing compounds in the white matter. An autopsy on one of the patients, who died at age 37 years, revealed an orthochromatic type of leukoencephalopathy. In bone and cartilage tissue, unspecific signs of a mild chondrodysplasia were found. At the PLP gene locus an obligate recombination was observed, which excludes the Pelizaeus-Merzbacher locus on Xq21-22. However, affected males share a fragment of the long arm of chromosome X. CONCLUSION: The authors report a new type of leukoencephalopathy associated with metaphyseal chondrodysplasia located on Xq25-q27.

Adult↗

Children with schizophrenia: clinical picture and pharmacological treatment.

Awareness of childhood-onset schizophrenia is rapidly increasing, with a more precise definition now available of the clinical picture and early signs, the outcome and the treatment strategies. Premorbid developmental impairments, including language, motor and social deficits, are more frequent and more pronounced in earlier- than in later-onset forms of schizophrenia. This 'pan-dysmaturation' is reported from the first months of life in more than half of the children who will develop childhood-onset schizophrenia, and it suggests a more severe and early disruption of brain development compared with the adolescent- and adult-onset disorder. The insidious onset in at least 75% of children, the high rates of premorbid problems and the hesitancy on the part of clinicians to make a diagnosis of schizophrenia in a child usually delay the recognition of the syndrome. Elementary auditory hallucinations are the most frequent positive symptom, while visual and tactile hallucinations are rarer. Delusions are less complex than in adolescents and are usually related to childhood themes. Negative symptoms are largely predominant, namely flat or inappropriate affect. A marked deterioration from the previous level of functioning is present in all these children, and an impaired outcome is reported in approximately 50-60% of them. The main diagnostic challenges are with differentiating childhood-onset schizophrenia from affective disorders (both depression and bipolar disorder) with psychotic symptoms, pervasive developmental disorders and severe personality disorders. Post-traumatic stress disorder and obsessive-compulsive disorder without insight may also be misdiagnosed as schizophrenia. Furthermore, approximately 10% of children from the community report nonpsychotic hallucinations or delusions. Finally, children with atypical psychotic features that do not strictly fit diagnostic criteria for schizophrenia have been described, and new labels have been proposed to categorise these clinical patterns, such as multidimensionally impaired disorder and multiple complex developmental disorder. In the context of a multimodal approach, including behavioral, social, scholastic and familial interventions, a pharmacological treatment is usually the core treatment. Available experience from the few controlled studies, open studies and case reports on pharmacotherapy in children with schizophrenia aged <12 years is critically analysed in this review, with particular reference to the use of atypical antipsychotics in clinical practice. To date, the major evidence supports the efficacy of risperidone and olanzapine, while clozapine seems an effective option in treatment-refractory cases. Published experience with newer atypical antipsychotics (quetiapine, ziprasidone, aripiprazole) is still lacking in this age range. Safety data (namely extrapyramidal symptoms, weight gain, hyperprolactinaemia, haematological adverse effects, seizures, hepatotoxicity, metabolic effects, neuroleptic malignant syndrome and cardiovascular effects) are reviewed and discussed, along with strategies for management.

Antipsychotic Agents↗

SSRI safety in overdose.

BACKGROUND: The morbidity and mortality caused by tricyclic antidepressant (TCA) overdose are well recognized. Among newer antidepressants, the selective serotonin reuptake inhibitors (SSRIs) are thought to be safer in overdose. This study was designed to describe the signs, symptoms, and mortality associated with SSRI overdose. METHOD: English-language articles identified through MEDLINE (1985 through 1997), and case reports from the American Association of Poison Control Centers (AAPCC) (1987 through 1996) and United States Food and Drug Administration (FDA) adverse event database (through 1997) that describe findings of fatal and nonfatal overdoses involving SSRIs alone or in combination with other ingestants were reviewed. RESULTS: SSRI antidepressants are rarely fatal in overdose when taken alone. During the 10 years that SSRI antidepressants have been marketed, there have been remarkably few fatal overdoses reported in the literature or to the AAPCC or FDA involving ingestion only of an SSRI. Moderate overdoses (up to 30 times the common daily dose) are associated with minor or no symptoms, while ingestions of greater amounts typically result in drowsiness, tremor, nausea, and vomiting. At very high doses (> 75 times the common daily dose), more serious adverse events, including seizures, electrocardiogram (ECG) changes, and decreased consciousness may occur. SSRI overdoses in combination with alcohol or other drugs are associated with increased toxicity, and almost all fatalities involving SSRIs have involved coingestion of other substances. CONCLUSION: The SSRI antidepressants are far safer than the TCAs in overdose. There is no apparent difference among SSRIs with respect to overdose safety.

Adult↗

Health promotion and early detection of cancer in older adults: assessing knowledge about cancer.

PURPOSE/OBJECTIVES: To identify the knowledge level concerning cancer in older Canadian adults. DESIGN: Descriptive. SETTING: Urban community in Canada. SAMPLE: Convenience sample of 513 adults over the age of 55 (72% female; 68% born in countries other than Canada). METHODS: A self-report questionnaire, the Cancer Knowledge Survey for Elders, was administered to participants in their native language (eight different language groups). Distribution was through community workers and public healthy nurses who worked with older adults. MAIN RESEARCH VARIABLES: Knowledge about cancer, language group, length of time living in the country. FINDINGS: The highest number of correct responses (87%) was for the item "Can some cancers be cured if they are discovered early?" The highest number of wrong answers (67%) was for the item "Can a bump or bruise to the body cause cancer?" Sixty-six percent did not consider age as a risk factor. For all but three items, the proportion of English language to non-English language individuals with correct answers was significantly different individuals whose native language was not English were less knowledgeable about cancer. IMPLICATIONS FOR NURSING PRACTICE: This study offers a basis for a large multicultural survey. Should the observations be confirmed in a larger sample, implications exist for public education about the risk factors and signs and symptoms of cancer, especially with individuals for whom English is not a native language. CONCLUSIONS: In this sample, specific areas were identified in which knowledge about cancer was lacking. In particular, the increased risk of cancer with advancing age was not recognized by a significant portion of study participants.

Aged↗

Disconnection agraphia in a case of multiple sclerosis: the isolation of letter movement plans from language.

We report the case of a left-handed man (MCR), who presented with a peripheral agraphia as an early sign of multiple sclerosis. His left-handed writing was neologistic, whilst oral spelling, typing and spelling with the right hand were intact. Structural MRI scanning revealed a lesion of the body of the corpus callosum. Dichotic listening tests indicated that MCR displayed left hemisphere dominance for language. It is proposed that MCR represents a case of a disconnection syndrome in which right hemisphere systems that provide the basis for movement templates during left-handed writing are isolated from left hemisphere language systems. Analysis of left-handed writing indicated that peripheral movement control was highly structured with both individual letter frequency and sequential dependencies between letters represented within these motor control units. This case represents an opportunity to explore the mechanisms of movement control for writing and to examine the characteristics of isolated letter templates.

Agraphia↗

[Speech development test for one-year-old infants: I. Test content].

A new speech development test was prepared for one-year-old infants. The test consists of three parts: test I, II, and III. The overall test originally comprised a total of 98 test items (47 for Test I, 32 for Test II and 19 for Test III). Test I (for pre-speech language) Section 1 Situation of language i) Differentiation of information to be communicated ii) Comprehension of speech-related situation (Initiation of "signe", and comprehension of objects and events by means of speech) Section 2 Development of symbolizing function (Development and transformation of ability to handle and manipulate objects) section 3 Representing the function of language (First utterance, and acquisition of meaningful words after first utterance) Test II (for speech comprehension) Ability to name concrete objects, and to relate objects to their uses and functions; comprehension of words representing spatial concept such as quantity, number and dimensions, as well as words representing color or position. Test III (for speech expression) Ability to verbalize or name concrete objects, and to verbalize the conduct and state of a person. For infants, language is an objective to be achieved, while for adults it is the mean of thinking and communicating. Despite this difference the scope of this test comprises two major aspects common to the language-related experience of infants and of adults: pragmatics and vocabulary.

Age Factors↗

Characteristics of specific reading disability in children from a neuropsychological clinic in Mexico City.

OBJECTIVE: This report describes the main clinical features associated with specific reading disability (RD) in a group of 778 school-age children studied in a Neuropsychological Clinic in Mexico City. MATERIAL AND METHODS: The study was performed retrospectively, using data abstracted from clinical records of subjects seen in 1995-1996. Children were mainly from low and middle economic strata and aged between 6 to 12 years. The following data were collected: age, gender, diagnosis, school grade, food intake, maternal complications during pregnancy, perinatal and postnatal neurological risk factors, and neurological signs and handedness. RESULTS: Subjects with RD had a mean age of 102.9 months, were predominantly male (male female ratio, 2:1). Among the study group, 49.1% of the children were diagnosed with RD of a visuo-sensory-motor type, and 75.1% were from early school years (1st to 3rd grades); 27.6% showed evidence of malnutrition. A previous history of language disorders (49.2%), and a high frequency of perinatal risk factors and neurological soft signs were also found. CONCLUSIONS: This study shows that variables such as gender, food intake, and genetic and neurological risk factors, were associated with reading disabilities in school children. The English version of this paper is available too at: http://www.insp.mx/salud/index.html.

Adult↗

[Aspects of cognition and language in children with fragile X syndrome].

INTRODUCTION: Fragile X syndrome, which is produced by mutation of a gene in the X chromosome, is the most frequent cause of hereditary mental retardation. The multisystemic alterations of the disorder are due to the inhibition of the expression of the FMR1 gene and to the lack or absence of FMRP protein. Mental retardation and autistic spectrum constitute the most serious manifestations of the syndrome, but there are numerous neuropsychological disorders that make up the cognitive behavioural (CB) phenotype of patients, and the number of clinical manifestations they are going to present is also high. AIMS: The aim of the study was to evaluate the parameters that can contribute to the elaboration of a set of generally agreed guidelines that include early diagnosis and the indispensable genetic counselling, as well as a multidisciplinary intervention that contemplates, in a global manner, the medical and educational needs of those affected. METHODOLOGY: The method used to conduct the study involved an analysis of the early manifestations of the disease and the neuropsychological aspects of those affected, by means of a study protocol that includes biological and pedagogical data together with batteries of standard tests. RESULTS AND CONCLUSIONS: Preliminary results confront us with the delay in diagnosis and in genetic counselling because the CB phenotype, in which language disorders were the most constant element, is not taken as being an early sign of the clinical manifestations or as a serious interference factor in the cognitive aspects in the progress of the disease.

Child↗

The neuropsychological status of adolescent delinquent boys.

The neuropsychological status and neuromotor performance of adolescent boys from lower middle class social environments who were detained as juvenile delinquents were compared to those of non-delinquent, lower and upper middle class controls. The delinquent index group showed pervasive impairment on all language measures, relative to both control groups, but did not differ from the latter on most neuropsychological measures that do not involve linguistic processing. Delinquents also demonstrated more minor neurological signs than either of the control groups; in the delinquents, but not in the control groups, neurological status predicted language performance.

Adolescent↗

[Language development in children with cleft palate].

Children with cleft palate often suffer from hearing and speech and language problems. Detailed knowledge about the long-term outcome of various therapeutic strategies including velopharyngoplasty or speech therapy seems mandatory to design an efficient rehabilitation plan for affected children. In this follow-up study 417 children with cleft palate (excluding isolated cleft lip) were examined in an interdisciplinary approach by maxillofacial surgeons, orthodontists, otolaryngologists, audiologists and speech and language pathologists. We found that 92% of the children had speech or language disorders. 80% of those children frequently had mild or severe conductive hearing loss, with or without clinical signs of otitis media with effusion. In 58 children (14%) with rhinolalia aperta not being improved by speech therapy for at least 1 year, velopharyngoplasty with a cranially based pharyngeal flap was performed. Language skills did not correlate with the type of cleft palate, but with the frequency and degree of hearing loss. Using this interdisciplinary approach for early detection and therapy of disorders related to cleft palate, only 49% of affected children had to undergo speech and language therapy. Based on the results of this follow-up study presented here we propose that otologic examination, such a thorough audiometric testing, and a detailed speech and language evaluation are important cornerstones in the rehabilitation management of children with cleft palate.

Adolescent↗

Arithmetic skills in kindergarten children with developmental language disorders.

Although arithmetic is not a language-based skill, a specific learning disability in arithmetic--dyscalculia--is commonly seen in children with developmental language disorders (DLD). The object of this study was to assess whether kindergarten children with DLD have impaired arithmetic skills and, if so, to correlate the pattern of dysfunction with language syndromes. Forty-two children with DLD attending mainstream kindergartens, and their matched controls, underwent an arithmetic battery, neurological examination, intelligence quotient (IQ) test (WPPSI/WISC-R) and language assessment (CELF-R).* Attention deficit hyperactivity disorder (ADHD) was diagnosed by psychological assessment and behaviour questionnaires. Results showed that children with DLD were similar to controls on performance IQ (104.2+/-12.1 and 109.4+/-12.7 respectively, p = NS), but inferior on both the CELF-R expressive (74.8+/-9.3 vs 95.2+/-15.1, p < 0.01) and receptive (77.5+/-10.0 vs 87.8+/-12.3, p < 0.01) language scores. Their performance on the arithmetic battery was also significantly poorer: 61.2+/-17.7 vs 77.4+/-13.7, p < 0.01. Low scores in reasoning principles and arithmetic operations were associated with both receptive and expressive language impairment, while poor performance on counting principles was primarily associated with expressive deficits. Mild motor signs and ADHD were more frequent in children with DLD (p < 0.01 and < 0.05, respectively). We concluded that the arithmetic impairment in children with DLD is pervasive, affecting a broad spectrum of skills. Whereas impairment of most arithmetic skills is associated with global language disturbances, counting correlates primarily with expressive language deficits. Anticipatory guidance by physicians will better prepare parents and educators for the multiple challenges facing children with DLD.

Attention Deficit Disorder with Hyperactivity↗

Testing testimony: toxicology and the law of evidence in early nineteenth-century england.

Examines how, when confronted with a case of possible criminal poisoning, early-19th-century English toxicologists sought to generate and to represent their evidence in the courtroom. Contends that in both these activities, toxicologists were inextricably engaged in a complex communicative exercise. On the one hand, they distanced themselves from the instabilities of language, styling themselves as testifiers to fact alone. At the same time, they saw themselves as deeply implicated in the difficulties of forging a coherent signifying system out of a disparate collection of signs that in themselves bore no intrinsic meaning. The article suggests first, why criminal poisoning featured so prominently in the burgeoning legal literature on evidence, which provided the framework for expert testimony in English courts; next, that the scientific evidence offered by toxicologists in poisoning cases can be usefully understood as a form of (unstable) language; and finally, that this recourse to signs informed the toxicologist's encounter with another type of courtroom expert - the legal advocate - who was equally (though differently) interested in manipulating signs in order to construct (and deconstruct) legally sanctioned proof.

Journal Article↗

Cognitive design for sharing medical knowledge models.

By building a medical conceptual model inside the galen project, a methodology has been defined to deal with both operative goals and deep and unsolved problems about knowledge. This knowledge sharing oriented approach exploits existing medical coding systems such as knowledge sources and enables us to represent their concepts in a wider cognitive context referring to ontological theories. The tasks of cognitive ergonomy, quasi-naturalness of language, versatility, and flexibility seem to be supported through some functions, such as viewpoint, context, and sign, which act as spin-off points to knowledge or information which is not modeled.

Artificial Intelligence↗

The effects of position on oxygen saturation in acute stroke: a systematic review.

OBJECTIVE: To investigate the effect of body position on oxygen saturation in the acute stages post stroke. DESIGN: Systematic review. METHODS: Databases: PREMEDLINE and MEDLINE, Psychinfo, EMBASE, CINAHL, PEDro, all EBM Reviews and Scottish Intercollegiate Guidelines Network (SIGN). KEYWORDS: combinations of cerebrovascular accident/stroke/hemiplegia/ cerbrovascular disorders and position or posture or sitting or standing/lying/supine/ side lying, with oxygen saturation/oxygen levels/blood gas analysis/hypoxia/sleep apnea syndrome/obstructive sleep disorder/Cheyne Stokes breathing. LIMITS: English language, human, adults and clinical trials. The quality of relevant papers was independently reviewed using criteria based on the SIGN guidelines for randomized controlled trials and methods described by Rywdik et al. RESULTS: There were four relevant studies involving 183 patients: three high quality and one poor quality. Heterogeneity in the testing positions, selection criteria, outcome measures and analysis methods prevented meta-analysis. There was strong evidence that body position did not affect oxygen saturation in acute stroke patients without relevant (respiratory) co-morbidities. There was limited evidence that sitting in a chair had a beneficial effect and lying positions had a deleterious effect on oxygen saturation in acute stroke patients with respiratory co-morbidities. CONCLUSIONS: Acute stroke patients without respiratory co-morbidities can adopt any body position, people with respiratory co-morbidities should be positioned as upright as possible.

Blood Gas Analysis↗

[Hannover and Ibsen: two Danish anatomists in the middle of the 19th century. Were they enemies?].

Adolph Hannover (1814-94), Danish anatomist and pathologist, introduced the microscopy to the medical research in Denmark. He published several papers on anatomy and pathology, among others Om Mikroskopets Bygning og dets Brug (1847) which was translated to several European languages, among others to English On the structure of the microscope and its use. As a jew he never succeeded in obtaining a post at the University of Copenhagen, Ib Pedersen Ibsen (1801-62) was educated at the Academia Chirurgorium Regia, the college of surgeons in Copenhagen, and he never became a scholarly anatomist, writing one paper only, published after his death. He was a competent anatomist and an appreciated teacher. The two anatomists competed for a post as lecturer in anatomy at the University of Copenhagen. Ibsen obtained the job after a public competition. The Museum of Medical History in Copenhagen is in possession of Ibsen's own copy of Hannover's dissertation on the cartilage, the muscles and the nerves of the external ear. In this copy Ibsen by hand has written some critical and unkind remarks against Hannover. Was this a sign of hostility? We conclude that they hardly were friends, but that the language between colleagues at the university could be rather harsh at that time.

Anatomy↗

Postictal mixed transcortical aphasia.

Postictal aphasia has been described in left temporal lobe seizures. It may be of fluent, non-fluent or global type. We present here a patient who displayed signs of mixed transcortical aphasia (MTCA). The patient was a 67 year old man who underwent excision of a left frontal parasagittal meningioma in 1987. Since then he has been treated with phenytoin for generalized tonic-clonic seizures (GTCS). He was admitted in status epilepticus. On awakening, the patient was non-fluent with palilalia and echolalia. His repetition was relatively preserved but all the other language functions were impaired. This picture faded away within a few hours. Brain CT, performed during this postictal state, was normal except for signs related to frontal craniotomy. SPECT, which was performed after language functions returned to normal, displayed left frontal, cingular and insular hypoperfusion. The postictal language dysfunction of the patient corresponded to MTCA. Although our case has frontal, he had no other structural lesion that could explain either diffuse ischemia of the left hemisphere or watershed areas secondary to the generalized seizures. The uniqueness of this case is the combination of postictal MTCA with good prognosis.

Aged↗