1/48. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and dna studies shows trisomy 18p and monosomy 18p both of paternal origin.Structural abnormalities of chromosome 18p mainly consist of isochromosomes of the short arm, which result in tetrasomy 18p. trisomy 18p is much rarer, and less well characterized. We report on a 12-year-old girl with minor facial anomalies, delayed development, abnormal hands, atopic dermatitis, and hearing loss. She was mosaic for two abnormal cell lines in peripheral blood. In 90% of cells, a dicentric chromosome with duplication of the whole short arm of chromosome 18 resulted in trisomy 18p; 10% of cells had monosomy 18p, arising from a t(14;18)(p11;q11). FISH mapping, with multiple region specific and locus specific probes from the short and long arm of chromosome 18, showed that the structure of the dicentric chromosome 18 was 18pter-->18q23::18q11-->18pter. dna polymorphisms for chromosome 18 showed that the abnormalities of chromosome 18 were paternal in origin. Combining all results, we could link the trisomy 18p and monosomy 18p to a common origin via a complex series of events in an early mitosis.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
2/48. Subcortical anarthria: a case report.A 56-year-old right-handed male with a history of hypertension and diabetes presented two episodes of stroke: The first affected territory was the left anterior coroidal artery (capsular and paracapsular infarcts at the level of the genu and posterior arm of the internal capsule) and the second was the right thalamus, due to a hematoma. Following the first stroke, the patient developed severe dysarthria and after the second stroke remained anarthric. The pathophysiology of the disorder is discussed, and the role of the left and right thalamus as far as speech is concerned is reviewed.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
3/48. music therapy for children with rett syndrome.The rett syndrome is good reactivity for sound and music. We enforced active music therapy (MT) individual session to patients with rett syndrome. The patients were 4, 5 and 6-year-old. The active music therapy and individual session of 30 min/week were performed. It was recorded in video and description, and using the original evaluation list, six items of fact. On largest problem that is hand operation with purpose in childhood of rett syndrome, we recorded the longest duration and frequency of hand grasping time in one session. There was the improvement of 35.0% of listening music, 33.3% play music, 13.3% singing music, 11.7% minute motion, 11.7% language, and 20.0% personal relation and sociality. The longest duration of hand grasping time was improved from 2 to 12 s in case 2 and from 7 to 80 s in case 3. Grasp frequency which showed the volition rapidly increased from 3 to 41 times, though the elongation for the duration of grasping was little for case 2. rett syndrome is the disease in which the psychomotor performance regresses with the age, but the aspect that surely developed in the session could be evaluated. rett syndrome has the ability understanding the music, and music therapy is suitable for them.- - - - - - - - - - ranking = 3keywords = hand (Clic here for more details about this article) |
4/48. multiple sclerosis and oral care.multiple sclerosis is a complex neurological condition affecting sensory and motor nerve transmission. Its progression and symptoms are unpredictable and vary from person to person as well as over time. Common early symptoms include visual disturbances, facial pain or trigeminal neuralgia and paraesthesia or numbness of feet, legs, hands and arms. These, plus symptoms of spasticity, spasms, tremor, fatigue, depression and progressive disability, impact on the individual's ability to maintain oral health, cope with dental treatment and access dental services. Also, many of the medications used in the symptomatic management of the condition have the potential to cause dry mouth and associated oral disease. There is no cure for multiple sclerosis, and treatment focuses on prevention of disability and maintenance of quality of life. Increasingly a multi-disciplinary team approach is used where the individual, if appropriate his/her carer, and the specialist nurse are key figures. The dental team plays an essential role in ensuring that oral health impacts positively on general health.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
5/48. Segregation of the neural correlates of language and phonological short-term memory.A left-handed patient is reported who developed a selective deficit of phonological short-term memory, but not aphasia, following an ischaemic lesion in the temporal parietal region of the left hemisphere The phonological short-term store was selectively damaged compared to the rehearsal system. The patient also showed impaired comprehension of spoken (but not written) connected language. This study suggests that language and phonological short-term memory may be mediated by segregated neural systems that develop independently in the two hemispheres. The relationship between phonological short-term memory and auditory comprehension is also discussed.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
6/48. Failure of metacontrol: breakdown in behavioural unity after lesion of the corpus callosum and inferomedial frontal lobes.A right-handed man suffered aneurysmal haemorrhage with lesions of the genu and body of the corpus callosum and the inferomedial frontal lobes bilaterally (right more than left). He exhibited remarkable breakdown in behavioural unity characterized by conflict between the two sides of the body, actions inconsistent with verbalizations, and internal conflict over control of the left hand. A major feature of the deficit was its temporal variability. This is interpreted as reflecting intermittent failure of metacontrol processes, which are neural mechanisms for maintaining behavioural unity. Medial frontal structures and their interconnections through the corpus callosum appear particularly important in the maintenance of metacontrol.- - - - - - - - - - ranking = 2keywords = hand (Clic here for more details about this article) |
7/48. Magnetoencephalographic analysis of rolandic discharges in a patient with rolandic epilepsy associated with oromotor deficits.The purpose of this study was to clarify the neurophysiologic basis of oromotor deficits in a patient with atypical rolandic epilepsy. We investigated magnetoencephalographic analysis of rolandic discharges with right predominance before and during clonazepam therapy. Before clonazepam administration, current sources of rolandic discharges were broadly distributed in the secondary sensory cortex, superior temporal gyrus, and parietal association area in addition to hand and orofacial division of the primary somatosensory cortex. During clonazepam therapy, oromotor deficits were improved, along with a decrease in rolandic discharge, and current sources of residual right-sided rolandic discharges were shifted to the right superior parietal lobule. Taking the clinical course and magnetoencephalographic findings together, the distributed rolandic discharge focus might be closely related to oromotor deficits, and clonazepam was effective for the disorder.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
8/48. Chronic 'speech catatonia' with constant logorrhea, verbigeration and echolalia successfully treated with lorazepam: a case report.Logorrhea, verbigeration and echolalia persisted unremittingly for 3 years, with occasional short periods of motoric excitement, in a patient with mild intellectual handicap suffering from chronic schizophrenia. The speech catatonic symptoms, previously refractory to various antipsychotics, responded promptly to lorazepam, a benzodiazepine with documented efficacy in the treatment of acute catatonia but not chronic catatonia. It is suggested that pathways in speech production were selectively involved in the genesis of the chronic speech catatonic syndrome, possibly a rare form of chronic catatonia not previously described.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
9/48. Parkinsonism following bilateral lesions of the globus pallidus: performance on a variety of motor tasks shows similarities with Parkinson's disease.OBJECTIVES: The authors report the results of detailed investigations into the motor function of a patient who, after a heavy drinking binge and subsequent unconsciousness, respiratory acidosis, and initial recovery, developed parkinsonism characterised by hypophonic speech and palilalia, "fast micrographia", impaired postural reflexes, and brady/akinesia in proximal (but not distal) alternating upper limb movements. methods: In addition to brain magnetic resonance imaging (MRI), different aspects of motor function were investigated using reaction time (RT) tasks, pegboard and finger tapping tasks, flex and squeeze tasks, movement related cortical potentials (MRCPs), and contingent negative variation (CNV). Cognitive function was also assessed. The results were compared to those previously reported in patients with Parkinson's disease (PD). RESULTS: brain MRI showed isolated and bilateral globus pallidus (GP) lesions covering mainly the external parts (GPe). These lesions were most probably secondary to respiratory acidosis, as other investigations failed to reveal an alternative cause. The results of the RT tasks showed that the patient had difficulties in preparing and maintaining preparation for a forthcoming movement. MRCP and CNV studies were in line with this, as the early component of the MRCP and CNV were absent prior to movement. The patient's performance on pegboard and finger tapping, and flex and squeeze tasks was normal when performed with one hand, but clearly deteriorated when using both hands simultaneously or sequentially. CONCLUSIONS: In general, the present results were similar to those reported previously in patients with PD. This provides further indirect evidence that the output of globus pallidus is of major importance in abnormal motor function in PD. The possible similarities of the functional status of GP in PD and our case are discussed.- - - - - - - - - - ranking = 2keywords = hand (Clic here for more details about this article) |
10/48. On the problems of speech compensation and fluctuating intellectual performance.Some of the factors involved in compensation of speech deficits following local brain lesions are enumerated. An illustrative case is presented of a right-handed patient who failed to become aphasic despite massive resections for glioma from the left hemisphere. The surprising degree of speech intactness is discussed according to theories of interhemispheric transfer of speech function and the possibility that the right hemisphere had originally been the dominant hemisphere for speech, a so-called "ectopic speech center." It has been known for many years that an aphasic patient with a left hemisphere lesion has a better prognosis if a family history of left handedness is present. A sister of the patient reported here, although right-handed, is shown by dichotic listening studies to be right hemisphere dominant for speech. Thus, it is suggested that this finding on dichotic listening tests in a close relative may prove to be a favorable prognostic sign for compensation of the speech function. The patient also showed fluctuating intellectual performance and a curious "warming up" phase for the individual neuropsychological tasks. Data is presented from simultaneous neuropsychological testing and an integrated EEG frequency analysis which demonstrates an electrophysiological and behavioral correlation. The question arises as to whether the fluctuations frequently seen in brain-damaged patients might have a similar electrophysiological association.- - - - - - - - - - ranking = 3keywords = hand (Clic here for more details about this article) |
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