Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q16637 (SMA)
 8,107 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report two cases of benign clear cell tumor of the lung, which were found as well-circumscribed lesions on chest X-ray films without any symptoms, and removed surgically. Light microscopy showed proliferation of clear cells filled with glycogen in both cases. Immunohistochemical examination performed in a case suggested that the tumor cells might be associated to a derivation from neural and/or smooth muscle cells, because of positive staining for NSE and SMA. In another case, the tumor formed a necrotic cavity, which could be detected by the preoperative MRI examination. This report might introduce a note of caution for the pathologic and radiographic diversity of this disease.
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PMID:[Two cases of clear cell tumor of the lung]. 872 72

A 6-month-old girl was admitted to another hospital because of consciousness disturbance, preceded by 2 weeks of decreased activity and vomiting. She was referred to our hospital after ventricular drainage had been instituted for hydrocephalus and the tumor in the pineal region. The patient was noted to have conjugate upward gaze palsy and papilledema. CT scan and MRI revealed a large tumor in the pineal region with tumoral hemorrhage and a small mass in the right frontal lobe. At surgery, the pineal region tumor was removed subtotally. Histological examination showed the tumor to be composed of sheets of large polyhedra or round cells with an eccentric round nuclei, prominent nucleoli, and cytoplasmic inclusions. Immunohistochemical studies were positive for GFAP, vimentin, S-100, CK, EMA, and SMA, but negative for AFP, HCG, PLAP, and CEA. Following surgery, she received three 5-day cycles of chemotherapy, consisting of intravenous administration of cisplatin 20 mg/m2/day and etoposide 60mg/m2/day. After these therapies, MRI showed a decrease in the area of high intensity in the pineal region, but almost no change in the right frontal mass lesion. Follow-up radiological examination showed that the tumor had grown rapidly one month after chemotherapy and the patient died 5 months after her first hospitalization. Malignant rhabdoid tumor of the CNS is rare and remarkably malignant. This tumor should be treated using multidisciplinary management with surgery, intensive chemotherapy, and radiotherapy depending on the patient's age.
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PMID:[A case of malignant rhabdoid tumor in the pineal region in early infancy]. 930 Apr 49

Involuntary movements that resembled the shooting of a basketball and piano playing were observed after brain damage in a 13-year-old female and a 74-year-old female, respectively. The movements were characterized as involuntarily triggered movements that occurred in the presence and absence of exteroceptive stimuli, movements had been practiced repeatedly just before the occurrence of the brain damage, and that could be stopped on command. According to the MRI findings, the lesions extended into the pre-supplementary motor area (pre-SMA). The characteristics of the patients movements were different from previously reported involuntary movements such as compulsive manipulation of tools, utilization behavior, and imitation behavior. Hikosaka et al (1996) reported the role of the pre-SMA in learning new sequential procedures. We speculate that damage to the pre-SMA may be associated with the etiology of these movements.
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PMID:[Releasing phenomenon of learned movements]. 984 54

In MR-guided intravascular procedures, the position of catheters must be confirmed on near-real-time MR images. One way of monitoring this is by passive tracking utilizing the magnetic susceptibility effect. A catheter with a stainless steel braid had suitable visibility when tracked by magnetic susceptibility on fast GRE images, although the direction of the static magnetic field affected the apparent width of the catheter. Passive tracking with a 1.5T MRI unit was performed in a patient at one image/2 seconds with fast GRE. The catheter could be introduced to the SMA and celiac artery from the aorta with passive tracking.
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PMID:[Application of MR-guided intravascular procedures by passive tracking utilizing the magnetic susceptibility effect: a preliminary report]. 1033 85

The human frontomesial cortex reportedly contains at least four cortical areas that are involved in motor control: the anterior supplementary motor area (pre-SMA), the posterior SMA (SMA proper, or SMA), and, in the anterior cingulate cortex, the rostral cingulate zone (RCZ) and the caudal cingulate zone (CCZ). We used functional magnetic resonance imaging (fMRI) to examine the role of each of these mesial motor areas in self-initiated and visually triggered movements. Healthy subjects performed self-initiated movements of the right fingers (self-initiated task, SI). Each movement elicited a visual signal that was recorded. The recorded sequence of visual signals was played back, and the subjects moved the right fingers in response to each signal (visually triggered task, VT). There were two types of movements: repetitive (FIXED) or sequential (SEQUENCE), performed at two different rates: SLOW or FAST. The four regions of interest (pre-SMA, SMA, RCZ, CCZ) were traced on a high-resolution MRI of each subject's brain. Descriptive analysis, consisting of individual assessment of significant activation, revealed a bilateral activation in the four mesial structures for all movement conditions, but SI movements were more efficient than VT movements. The more complex and more rapid the movements, the smaller the difference in activation efficiency between the SI and the VT tasks, which indicated an additional processing role of the mesial motor areas involving both the type and rate of movements. Quantitative analysis was performed on the spatial extent of the area activated and the percentage of change in signal amplitude. In the pre-SMA, activation was more extensive for SI than for VT movements, and for fast than for slow movements; the extent of activation was larger in the ipsilateral pre-SMA. In the SMA, the difference was not significant in the extent and magnitude of activation between SI and VT movements, but activation was more extensive for sequential than for fixed movements. In the RCZ and CCZ, both the extent and magnitude of activation were larger for SI than for VT movements. In the CCZ, both indices of activation were also larger for sequential than for fixed movements, and for fast than for slow movements. These data suggest functional specificities of the frontomesial motor areas with respect not only to the mode of movement initiation (self-initiated or externally triggered) but also to the movement type and rate.
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PMID:Mesial motor areas in self-initiated versus externally triggered movements examined with fMRI: effect of movement type and rate. 1036 21

Malignant rhabdoid tumor (MRT), described for the first time in 1978 in the kidney, has rarely been reported in other organs including the brain and has involved adults in only 3 cases. We described a case of MRT in a 32-year-old woman who presented with severe headache, nausea and sudden onset of visual disturbance. MRI showed a well-enhanced mass at the suprasellar region. Subtotal removal of the tumor was performed. However, tumor regrowth occurred after the operation (doubling time, 8.36 days) and spinal dissemination was detected. Therefore, chemotherapy and radiotherapy were administered focusing on the suprasellar lesion and the spinal cord. Pathologically, light micrographs showed rhabdoid cells with large, round, single or double nuclei with one prominent nucleolus and eosinophilic cytoplasmic inclusions. Electron micrographs were made of typical rhabdoid cells displaying bundles of intermediate filaments within the perikaryon. In immunohistochemical studies, EMA, vimentin, cytokeratin and SMA were positive. Pathological findings were consistent with those of MRT. Optimal treatment for this tumor has not been established. Our case may be useful in defining treatment for MRT.
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PMID:[Suprasellar primary malignant rhabdoid tumor in an adult: a case report]. 1076 34

Since serotonin (5-HT) stimulates motor function, pharmacological potentiation of 5-HT neurotransmission may improve motor function in healthy subjects and, possibly, recovery in post-stroke patients. Indeed, fluoxetine, a selective serotonin reuptake inhibitor (SSRI), increased activation in executive motor areas of healthy subjects as fenozolone, a releaser of monoamines (including noradrenaline, dopamine, and serotonin) from intracellular stores. This study is intended to test the hypothesis that paroxetine can likewise modulate brain motor activity in a dose-dependent manner in healthy subjects. In a double-blind counterbalanced study, six subjects underwent functional MRI examinations on three sessions 1 week apart (E1, E2, and E3) at the time of peak plasma concentrations (5 h after drug intake, i.e., either 20 or 60 mg of paroxetine or placebo) with a complex sequential opposition task. Rest and activation alternated in a block design. During activation, subjects performed, with the right hand, a 1-Hz-paced task that alternated two fist closings with a sequential opposition task. Paroxetine elicited effects similar to those reported for fluoxetine; notable changes were hyperactivation in the contralateral S1/M1, and posterior SMA and widespread hypoactivation of basal ganglia and cerebellum. There was an inverse correlation between dose and effect: significantly greater effects were observed with the 20-mg dose compared with 60 mg. Paroxetine dose-dependently modulates activation of the entire motor pathway in a way that favors motor output. Thus, a single dose of the SSRI paroxetine reorganized motor processing.
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PMID:A single dose of the serotonin neurotransmission agonist paroxetine enhances motor output: double-blind, placebo-controlled, fMRI study in healthy subjects. 1177 71

We used event-related functional magnetic resonance imaging (fMRI) to measure brain activity when subjects were performing identical tasks in the context of either a task-set switch or a continuation of earlier performance. The context, i.e., switching or staying with the current task, influenced medial frontal cortical activation; the medial frontal cortex is transiently activated at the time that subjects switch from one way of performing a task to another. Two types of task-set-switching paradigms were investigated. In the response-switching (RS) paradigm, subjects switched between different rules for response selection and had to choose between competing responses. In the visual-switching (VS) paradigm, subjects switched between different rules for stimulus selection and had to choose between competing visual stimuli. The type of conflict, sensory (VS) or motor (RS), involved in switching was critical in determining medial frontal activation. Switching in the RS paradigm was associated with clear blood-oxygenation-level-dependent signal increases ("activations") in three medial frontal areas: the rostral cingulate zone, the caudal cingulate zone, and the presupplementary motor area (pre-SMA). Switching in the VS task was associated with definite activation in just one medial frontal area, a region on the border between the pre-SMA and the SMA. Subsequent to the fMRI session, we used MRI-guided frameless stereotaxic procedures and repetitive transcranial magnetic stimulation (rTMS) to test the importance of the medial frontal activations for task switching. Applying rTMS over the pre-SMA disrupted subsequent RS performance but only when it was applied in the context of a switch. This result shows, first, that the pre-SMA is essential for task switching and second that its essential role is transient and limited to just the time of behavioral switching. The results are consistent with a role for the pre-SMA in selecting between response sets at a superordinate level rather than in selecting individual responses. The effect of the rTMS was not simply due to the tactile and auditory artifacts associated with each pulse; rTMS over several control regions did not selectively disrupt switching. Applying rTMS over the SMA/pre-SMA area activated in the VS paradigm did not disrupt switching. This result, first, confirms the limited importance of the medial frontal cortex for sensory attentional switching. Second, the VS rTMS results suggest that just because an area is activated in two paradigms does not mean that it plays the same essential role in both cases.
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PMID:Role of the human medial frontal cortex in task switching: a combined fMRI and TMS study. 1197 94

Under normal circumstances, information from a number of sources is combined to compute a unitary percept of the body. However, after pathology these influences may be perceived simultaneously, resulting in multiple dissociated conscious representations. In a recent paper, we described subject E.P., a right-handed female stroke patient with a right frontomesial lesion who sporadically experiences a supernumerary 'ghost' left arm that occupies the previous position of the real left arm after a delay of 60-90 s. We used a delayed response paradigm with functional MRI to examine the haemodynamic correlates of E.P.'s illusion. Comparison of periods of time during scanning when the ghost arm was present against when it was not revealed a single cluster (9 voxels, t = 5.11, P < 0.012 corrected for multiple comparisons) located on the right medial wall in the supplementary motor area ('SMA proper'). Our results suggest that areas traditionally classified as part of the motor system can influence the conscious perception of the body. We propose that, as a consequence of her injury, E.P. is aware of the position of the phantom limb in this 'action space' while also continuing to be aware of the true position of her real limb on the basis of afferent somatosensory information.
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PMID:Whose arm is it anyway? An fMRI case study of supernumerary phantom limb. 1202 15

We report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of the upper extremity at the age of 17. Objective findings were 1) muscular atrophy of calf and forearm flexor muscles and intrinsic hand muscles; 2) fasciculations; and 3) hand tremor. EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative.
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PMID:[Juvenile asymmetrical segmental spinal muscular atrophy]. 1222 8


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