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Mild trigonocephaly with clinical symptoms: analysis of surgical results in 65 patients.

INTRODUCTION: It has been believed that isolated, mild trigonocephaly rarely presents with clinical symptoms. PATIENTS AND METHODS: We diagnosed and operated on 65 patients with mild trigonocephaly and developmental delay up to July 2000. There were 47 boys and 18 girls in our series. All patients had symptoms such as delay in language development, hyperactivity, autistic tendencies, and motor dysfunctions. Their facial features were characterized by a metopic ridge, depressed temples, heel-shaped rather than keel-shaped forehead, and slight hypotelorism. The most important physical sign was the palpable metopic ridge. Most patients did not exhibit any symptoms until they were more than 1 year old. Fifteen patients showed regression in language acquisition and use. Three-dimensional computed tomography revealed the metopic ridge, depressed pterional regions, hypotelorism, and small anterior fossae. Magnetic resonance imaging was performed on all patients and demonstrated no abnormal findings in the brain. Single-photon emission computed tomography (SPECT) was performed on 83% of patients and revealed decreased cerebral blood flow (CBF) in the frontal lobes of 76% of those patients. Decompressive cranioplasty of the frontal bone involving the skull base was performed on all patients. RESULTS: In most (61 out of 65) patients a degree of postoperative improvement in clinical symptoms was noted, especially in behavioral problems. Postoperative SPECT demonstrated increased CBF in the frontal lobes in 95% of the patients. CONCLUSION: Based on these results, it can be postulated that mild trigonocephaly is frequently associated with developmental delays and that these symptoms can be improved to a certain degree by decompressive cranioplasty.

Child↗

Neuromotor maturation and psychological performance: a developmental study.

Groups of 50 normal kindergarten and 50 first-grade children were examined three times at six-month intervals on the extended neuromotor examination for children, as well as on measures of reading achievement and language performance. The joint effect of five neuromotor measures accounted for a substantial percentage of variance in reading achievement and language performance 12 months later. As a global measure, neuromotor status therefore may constitute a reliable, independent criterion of developmental age for psychological investigations of young, normal children. The best individual predictors of psychological outcome were mirror movements and speed of timed motor repetitions, while reading achievement and automated naming speed were the dependent measures most closely associated over time with neuromotor status. Such findings suggest that the individual motor signs may also provide indirect clues about the presumed functional relationship between development of motor co-ordination and language competence.

Achievement↗

[Left anterior choroidal artery syndrome with language disorders and constructional apraxia].

The infarction in the territory of the anterior choroidal artery may induce a sensory motor impairment and neuropsychological symptoms close to those observed in some thalamic lesions. In a right handed man with a left sided infarction, language disturbances and constructional apraxia were observed. Cerebral blood flow measurements were performed 4 days after the stroke with the 133Xenon inhalation method. A decrease of mean hemispheric values was observed on both sides but more so on the left hemisphere, in the left frontoparietal regions. 98 days after the stroke language and constructional apraxia have partially improved. We have drawn a parallel between blood flow variations and neuropsychological signs. The cortical deafferentation caused by the interruption of the thalamo-cortical projections may explain the focalized decrease in cerebral blood flow values in the left hemisphere.

Adult↗

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate. Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay. A review of the literature and database programs did not find any syndromes that matched this constellation of findings. We believe that this combination of signs represents a new mandibulofacial dysostosis syndrome whose etiology is unknown.

Abnormalities, Multiple↗

Seizures induced by singing and recitation. A unique form of reflex epilepsy in childhood.

A 2-year-old boy of above-average intelligence experienced seizures, manifested by ticlike turning movements of the head, which were induced consistently by his own singing--not by listening to or imagining music. His seizures were also induced by his recitation and by his use of silly or witty language such as punning. The neurologic examination showed only a right-sided Babinski's sign. Seizure activity on an EEG was present in both temporocentral regions, especially on the right side, and was correlated with clinical attacks. A computed tomographic scan was normal. Phenobarbital therapy did not reduce seizure frequency.

Child, Preschool↗

Depressive symptomatology across the Americas.

We compared depressive symptomatology and its sociocultural context across a Peruvian sample of 93 and a US sample of 64 adult depressive patients. The design involved the interview and evaluation of both groups by a bilingual investigator using Spanish- and English-language versions of the same assessment instruments. A basic commonality of core depressive symptoms and signs was found across samples, which also had similar levels of overall depressive severity. However, more complaints and higher scores on somatic symptoms and daily fluctuation of depression were seen in the Peruvian group, while the US group had higher scores on suicidal manifestations.

Adjustment Disorders↗

Stable human immunodeficiency virus encephalopathy in two infants receiving early intravenous gammaglobulin plus antimicrobial prophylaxis.

Two infants with human immunodeficiency virus (HIV) infection, encephalopathy, intrathecal anti-HIV IgG antibody production and (in one case) the presence of HIV antigen received monthly doses of intravenous gammaglobulin (IVGG) and daily antimicrobial prophylaxis starting at the ages of 6 and 9 months respectively. The follow-up over 15 and 12 months revealed a favourable course with remarkable improvement in visuo-spatial functions, receptive language, play behaviour and fine motor skills, as well as in muscle tone, pyramidal tract signs and vigilance in case 1, and near normalization in case 2. Viability of HIV in peripheral blood mononuclear cells, antigen in serum and cellular immunodeficiency, however, all remained unchanged. We suggest that neurological complications of encephalopathy in paediatric acquired immunodeficiency syndrome may have a slower progression when IVGG treatment plus antimicrobial prophylaxis is started early.

Acquired Immunodeficiency Syndrome↗

Acquired procedural dyscalculia associated to a left parietal lesion in a child.

We report the case of an 11-year-old boy who developed an anarithmetia in association with a left temporo-parietal tumor. His oral and written language were normal as well as his ability to judge magnitudes, process numbers, read operation signs and retrieve number facts. He had a specific difficulty in performing the procedures of subtraction, especially when it involved borrowing. These skills had been mastered before the present illness. This case shows that the components of calculation can be dissociated by brain lesions sustained during childhood, while arithmetic abilities are being acquired, thus reinforcing findings from developmental dyscalculias, that suggest a modular organisation of those skills during development.

Brain Neoplasms↗

Misidentification in patients with dementia.

This is a retrospective study of 116 dementia patients to determine the prevalance of misidentification in dementia and to evaluate its relationship to individual characteristics, behavioral and psychiatric manifestations and to certain dementia -related domains namely, cognitive impairment, stage of disease, language difficulties and functional disability. Misidentification was characterized as "misidentification of people", "phantom boarder", "mirror image" and "TV sign". 35% had misidentification and there was a close relationship between misidentification and accusatory behavior. Age, sex, cognitive impairment, stage of illness and functional disability were seen to confound the association between misidentification and accusatory behavior. The results suggest that misidentification is a frequent component of dementia. It is formulated that cognitive dysfunctioning and stage of disease confounded this association.

Aged↗

Integrated pathology reporting, indexing, and retrieval system using natural language diagnoses.

Pathology computer systems are making increasing use of natural language diagnoses. The Johns Hopkins Medical Institutions integrated pathology reporting system, a commercial product with extensive, locally added enhancements, covers all information management functions within autopsy and surgical pathology divisions and has on-line linkages to clinical laboratory reports and the medical library's Mini-MEDLINE system. All diagnoses are written in natural language, using a word processor and spelling checker. A security system with personal passwords and different levels of access for different staff members allows reports to be signed out with an electronic signature. The system produces financial reports, overdue case reports, and Boolean searches of the database. Our experience with 128,790 consecutively entered pathology reports suggests that the greater precision of natural language diagnoses makes them the most suitable vehicle for follow-up, retrieval, and systems development functions in pathology.

Artificial Intelligence↗

Appendicitis in pregnancy.

BACKGROUND: Our urban practice had two incidences of documented appendicitis in pregnancy in a 24-hour period with two unique outcomes that prompted an inquiry. Appendicitis in pregnancy is relatively rare, but it has significant morbidity and is a cause of maternal and infant mortality. Abdominal pain is the most common presenting symptom, and the consideration of multiple pathologic disorders should be entertained. Accurate diagnosis of appendicitis in pregnancy is the largest challenge since the signs and symptoms may vary depending on the trimester in which the patient presents. METHODS: We undertook a systematic review of English-language articles from 1975 to 2005 using the key words "appendicitis," and "pregnancy" using MEDLINE, CINAHL, and Cochrane Controlled Trials Register databases. RESULTS AND CONCLUSIONS: The accurate diagnosis of appendicitis during pregnancy requires a high level of suspicion and clinical skills, and not merely relying on the classic signs and diagnostic testing. Primary care providers play an important role in recognizing potential signs and symptoms of appendicitis in pregnancy to initiate prompt action and reduce negative maternal and fetal outcomes.

Adult↗

Speech and language disorders in children.

Speech and language development is a sensitive and important diagnostic tool for the family physician. Speech defects and delayed speech and language development can be the presenting evidence for neurologic abnormalities, cognitive difficulties and abnormal hearing. They can also be signs of emotional, social, family and behavioral problems. Finally, they can signify the need for evaluation of abnormalities of tracheal and laryngeal function and oral-motor development.

Attention Deficit Disorder with Hyperactivity↗

Temporal lobe signs and enhanced pleasantness scores for words generated during spontaneous narratives.

Temporal lobe function has been strongly implicated in the processes of semantic selection. Within this context, enhanced activity of deep mesiobasal structures is expected to influence the affective dimensions of language use. Quantitative measures of the evaluative (pleasantness) dimension but not the activity (arousal) dimension of words generated during narratives of subjective experiences within an exotic setting were significantly correlated with the numbers of temporal lobe signs.

Adult↗

Individual differences in hypothalamic-pituitary-adrenal activity in later life and hippocampal aging.

Variation in magnitude of cognitive decline in later life is a central feature of human aging. The more severe forms of dementias, such as Alzheimer's disease, clearly define one end of the spectrum. However, among those showing no obvious signs of clinical dementia there are considerable individual differences. Thus, although evidence for learning, memory, and language loss appears in some individuals as early as 50-55 years of age, many people continue to function alertly well into their 90s. These individuals exemplify what Rowe and Kahn (1987) have termed "successful" aging. The wide variability in CNS aging, often a nuisance factor in studies, are becoming a major focus for brain aging research (e.g., Gage et al., 1984;Gallager and Pelleymounter, 1988; Aitken and Meaney, 1990; Issa et al., 1990). Our studies over the past few years have added support to the idea that individual differences in hypothalamic-pituitary-adrenal (HPA) activity can account for part of the variation seen in neurological function among the elderly. In this article we discuss the evidence for the idea that adrenal glucocorticoids can compromise hippocampal function and, thus, produce cognitive impairments, as well as the potential mechanisms for these effects.

Aged↗

Reliability of clinical temporomandibular disorder diagnoses.

Temporomandibular disorders (TMD) diagnoses can be viewed as the most useful clinical summary for classifying subtypes of TMD. The Research Diagnostic Criteria for TMD (RDC/TMD) is the most widely used TMD diagnostic system for conducting clinical research. It has been translated into 18 languages and is used by a consortium of 45 RDC/TMD-based international researchers. While reliability of RDC/TMD signs and symptoms of TMD has been amply reported, the reliability of RDC/TMD diagnoses has not. The aim of the study was to determine the reliability of clinical TMD diagnoses using standardized methods and operational definitions contained in the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Data came from reliability assessment trials conducted at 10 international clinical centers, involving 30 clinical examiners assessing 230 subjects. Intraclass correlation coefficients (ICC) were calculated to characterize the reliability. The reliability of the diagnoses was fair to good. Median ICCs for the diagnoses myofascial pain with and without limited opening were 0.51 and 0.60, respectively. Median ICC for arthralgia was 0.47 and 0.61 for disc displacement with reduction. RDC/TMD diagnoses of disc displacement without reduction, osteoarthritis and osteoarthrosis were not prevalent enough to calculate ICC's, but percent agreement was always >95%. The reliability of diagnostic classification improved when diagnoses were grouped into pain versus non-pain diagnoses (ICC=0.72) and for detecting any diagnosis versus no diagnosis (ICC=0.78). In clinical decision-making and research, arriving at a reliable diagnosis is critical in establishing a clinical condition and a rational approach to treatment. The RDC/TMD demonstrates sufficiently high reliability for the most common TMD diagnoses, supporting its use in clinical research and decision making.

Algorithms↗

Multiple cerebral infarcts following septic shock.

A 60-year-old female in septic shock developed neurological signs and symptoms. She had left-sided hemiparesis, left homonymous hemianopia, bimanual coordination disorder, a language dysfunction of anomic aphasic type and a non-aphasic right hemispheric communication disorder. Computer tomography demonstrated bilateral anterior and posterior watershed as well as territorial infarctions. Risk factors included chronic airways limitation, cardiac failure and heavy smoking. Carotid duplex studies were normal. The mechanisms can be explained by flow changes and thrombus formation.

Cerebral Infarction↗

[Mutism and aphasia--a review of the literature].

Mutism in the sense of a complete inability to produce oral language is a rare symptom in aphasic disorders and most often occurs as a transient initial sign. Among the pathomechanisms causing muteness in aphasia, disturbances of speech initiation and of limbic aspects of speech production on the one hand and speech motor programming impairments on the other are considered. This article reviews clinical reports of extremely reduced speech or complete muteness in the context of aphasia, discussing the observed symptom patterns as well as their neuroanatomic correlates and aspects of their recovery.

Aphasia↗