Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the first case of an autoimmune thyroid encephalopathy presenting with multifocal motor status epilepticus. A 37-year-old female patient was admitted with multifocal motor seizures intractable to intravenous status epilepticus treatments, asymmetrical quadriparesis, truncal ataxia and continuous semi-rhythmical jerks. Pathological signal alterations were detected in both precentral cortices in MRI examination. Autoimmune thyroiditis was diagnosed after radiological examinations of the thyroid gland and thyroid function tests. Seizures promptly ceased following intravenous steroid treatment. Immunohistochemistry studies showed mild to moderate neuronal staining with the plasma and CSF samples. Remarkably, autoimmune thyroiditis may present with migrating focal motor status epilepticus. We recommend anti-thyroid antibody screening for multifocal motor status epilepticus cases of unspecified cause.
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PMID:Autoimmune thyroid encephalopathy presenting with epilepsia partialis continua. 1692 5

A case with brain metastasis involving bilateral middle cerebellar peduncles (bMCP) was reported. A 71-year-old male with gastric cancer was treated for multiple brain metastasis by gamma knife radiosurgery (GKR) in September, 2004. Two months after the initial GKR, MRI showed asymmetrical enhanced lesions involving bMCP. A few months later, MRI revealed an expansional infiltration of bMCP lesions. The patient had presented with headache loss of appetite, cerebellar ataxia, diplopia and slight dysmetria. PET showed 2-deoxy-2- [18F] fluoro-D-glucose (FDG) uptake of the bMCP lesions. The lesions were diagnosed as brain metastasis of gastric cancer. The patient underwent his second GKR (marginal dose : 19Gy, maximum dose 38Gy) MRI revealed the disappearance of the tumors 3 months after the second GKR. One year later, the patient showed no evidence of recurrence. For the last time, our case was diagnosed as brain metastasis from gastric cancer without meningeal carcinomatosis. It was suggested that FDG-PET can provide additional information about the lesion of bMCP. GKR may be useful to treat the tumor in bMCP.
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PMID:[A case of brain metastasis from gastric cancer involving bilateral middle cerebellar peduncles]. 1698 31

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of pathologies. We have identified a cohort of 14 French-Canadian patients from eight different families displaying a novel form of LGMD with an autosomal recessive inheritance. These patients share some features with previously described cases of 'quadriceps myopathy' that evolved into an LGMD. All demonstrate quadriceps femoris asymmetrical atrophy. Creatine kinase values were variable from normal to 6000 U/l. Clinical evaluations and MRI studies demonstrate a variable intrafamilial and interfamilial phenotype. Asymmetrical muscle involvement was clinically observed and confirmed by imaging. MRI studies suggest that the hamstrings and the adductor magnus are the first limb muscles to demonstrate fatty infiltration. Muscle pathology shows no sign of active inflammation but increased endomysial connective tissue associated with basal lamina duplication and collagen disorganization. A genome-wide scan using the two largest families uncovered linkage to marker D11S1360 on chromosome 11p12 [multipoint logarithm of the odds (LOD) score of 2.78]. Further genotyping for the eight families confirmed linkage to this new LGMD locus (multipoint LOD score of 4.56). Fine mapping subsequently defined a less than 3.3 cM candidate interval on 11p13-p12. Haplotype analysis of carrier chromosomes suggests that the most frequent mutation may account for up to 81.3% of French-Canadian mutations. In this study, we describe the chromosomal locus of a new form of recessive LGMD with prominent quadriceps femoris atrophy.
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PMID:A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. 1700 31

Three cases of focal myelomalacia and syrinx formation occurring as complications of lumbar spinal anesthesia are reported. In all three instances complication occurred due to accidental injection of lidocaine into the substance of the spinal cord. The primary complaint in all the three cases was severe sharp and shooting pain in both lower limbs, being more severe in certain dermatomes. Neurological deficits were noticed after the effect of the anesthetic agent had worn off. Sensory and motor deficits were asymmetrical and focal; these improved in 6-12 months time. Pain persisted for 1-3 years and then subsided gradually. Carbamazepine and gabapentin were effective in symptomatic relief of this pain. MRI of the dorsolumbar spine done 4-6 months after the spinal anesthetic procedure showed myelomalacic changes with focal syrinx formation in the conus and epiconus region of the spinal cord. The syrinx extended 1-2 vertebral segments in the vertical plane but was confined to a small area in the axial plane. Attempting to use higher lumbar intervertebral spaces for access to the subarachnoid space or epidural space may lead to inadvertent puncture of the lower dorsal spaces; this makes the procedure of spinal anesthesia at this level prone for spinal cord injury, with subsequent risk of development of myelomalacic syrinx in the conus and epiconus region of the spinal cord.
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PMID:Focal myelomalacia and syrinx formation after accidental intramedullary lidocaine injection during lumbar anesthesia: a report of 3 cases. 1709 7

The clinical criteria of Parkinson's disease are akinesia in combination with at least one of the following three symptoms: tremor (asymmetrical resting tremor), rigidity, impairment of posture, gait and balance. Symptomatic and atypical parkinsonian syndromes are ruled out by history, clinical examination, cranial CT, MRI, SPECT or PET. Patients with Parkinson's disease respond to levodopa or dopaminagonists throughout the course of the disease. Parkinson's disease is also characterised by various vegetative symptoms, impairment of olfaction, anxiety, depression, and with increasing age also by cognitive deficits and dementia.
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PMID:[Clinical criteria of Parkinson's disease]. 1722 18

Radicular pain can be caused by disc herniation, lateral stenosis, isthmic spondylolisthesis with foraminal stenosis, or foraminal encroachment due to asymmetrical disc degeneration or scoliosis. Surgery is indicated following failure of conservative treatment. Minimally invasive discectomy is indicated for subjects presenting with radicular pain with or without neurological deficit and appropriate sized herniation in MRI. It offers equivalent efficacy but quicker recovery than microdiscectomy. Minimally invasive fusion is indicated for radicular pain due to foraminal compression in isthmic spondylolisthesis, asymmetric disc degeneration or scoliosis. It allows decrease in blood loss and postoperative pain. A less invasive technique should nevertheless not replace properly conducted conservative treatment.
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PMID:[Surgical treatment of radicular pain using minimally invasive techniques]. 1723 99

At the UMC Utrecht, in collaboration with Elekta and Philips Research Hamburg, we are developing a radiotherapy accelerator with integrated MRI functionality. The radiation dose will be delivered in the presence of a lateral 1.5 T field. Although the photon beam is not affected by the magnetic field, the actual dose deposition is done by a cascade of secondary electrons and these electrons are affected by the Lorentz force. The magnetic field causes a reduced build-up distance: because the trajectory of the electrons between collisions is curved, the entrance depth in tissue decreases. Also, at tissue-air interfaces an increased dose occurs due to the so-called electron return effect (ERE): electrons leaving tissue will describe a circular path in air and re-enter the tissue yielding a local dose increase. In this paper the impact of a 1.5 T magnetic field on both the build-up distance and the dose increase due to the ERE will be investigated as a function of the angle between the surface and the incident beam. Monte Carlo simulations demonstrate that in the presence of a 1.5 T magnetic field, the surface dose, the build-up distance and the exit dose depend more heavily on the surface orientation than in the case without magnetic field. This is caused by the asymmetrical pointspread kernel in the presence of 1.5 T and the directional behaviour of the re-entering electrons. Simulations on geometrical phantoms show that ERE dose increase at air cavities can be avoided using opposing beams, also when the air-tissue boundary is not perpendicular to the beam. For the more general case in patient anatomies, more problems may arise. Future work will address the possibilities and limitations of opposing beams in combination with IMRT in a magnetic field.
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PMID:Integrating a MRI scanner with a 6 MV radiotherapy accelerator: impact of the surface orientation on the entrance and exit dose due to the transverse magnetic field. 1726 62

Functional MRI of the lungs with hyperpolarized helium provides an index of apparent diffusion measured over several seconds (ADCsec) that is only 2% of its free diffusion in air (0.88 cm2/s). The potential of ADCsec to noninvasively assess in vivo lung structure of diseased lungs at the length scales corresponding to several seconds is critically dependent on the exact link between ADCsec and lung peripheral structure. To understand the intruigingly small ADCsec, numerical simulations of gas transport were performed in 1) a trumpet model, 2) a symmetrical, and 3) an asymmetrical multiple-branch-point model of the human acinus. For initial gas boluses in different locations of the acinar models, ADCsec was quantified as follows. At different time intervals, we computed a coefficient of variation (CoV) of the concentration distributions within each acinar model. The slope in the semilog plot of log(CoV) vs. time was proportional to the ADCsec generated by the internal model structure, provided that the outer model boundaries were similar across all models (i.e., similar cumulative cross section vs. average path length). The simulations revealed an ADCsec that amounted to approximately 1% of free diffusion in the trumpet model of the acinus, i.e., corresponding to free diffusion within the acinar geometric boundaries. Our simulations show that for initial conditions corresponding to those used in MRI experiments, intra-acinar branching introduces a dramatic diffusion delay, comparable to what is observed experimentally.
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PMID:Simulation of the apparent diffusion of helium-3 in the human acinus. 1737 47

Frontotemporal dementia is increasingly recognised as an important cause of early-onset dementia and is considered to be the second commonest neurodegenerative dementia after Alzheimer's disease. We describe the cognitive, behavioural profile and neuroimaging characteristics of 6 patients with frontal variant of Frontotemporal dementia that were evaluated at the cognitive behavioural clinic at this tertiary referral teaching hospital. All patients underwent clinical, neuropsychological, structural/functional neuroimaging, and laboratory evaluations. The male to female ratio was 1:1; mean age of onset was 54 years, and the mean duration of symptoms were 30 months. The mean scores for Addenbrooke's cognitive examination, Frontal Assessment Battery, and Mini-Mental State Examination were 70.5, 6.33 and 23.6 respectively. The mean VLOM ratio was 2.04. MRI revealed significant asymmetrical regional frontal/temporal atrophy supplemented by the evidence of circumscribed hypoperfusion in SPECT imaging. We conclude that a combination of behavioural and cognitive assessment using short bedside tests, along with structural and functional neuroimaging does facilitate early identification, and increase the diagnostic specificity of Frontotemporal dementia.
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PMID:Frontotemporal dementia in Oman: cognitive behavioural profile and neuroimaging characteristics; a prospective hospital-based study. 1754 47

Adams-Oliver syndrome is characterized by aplasia cutis congenita and variable degrees of terminal transverse limb defects. Other associated anomalies were described in the syndrome. Most described cases follow an autosomal dominant pattern of inheritance. Sporadic and autosomal recessive cases, however, were reported. In this study, we report on three Egyptian patients with Adams-Oliver syndrome from three different families. The parents were normal and consanguineous in all three families. There was history of similarly affected sibs for two cases. These findings denote autosomal recessive inheritance. The reported cases had typical skull and limb anomalies with cutis marmorata telangiectatica congenita. We observed additional rare manifestations in the form of microcephaly, psychomotor retardation, epilepsy, eye anomalies and atrophic skin lesions. MRI of the brain in one of the studied cases revealed retrocerebellar cyst and mild asymmetrical cerebellar hypoplasia, which to our knowledge, were not previously reported in Adams-Oliver syndrome. The results of this study provide further evidence of clinical and genetic heterogeneity and support the presence of autosomal recessive variant of Adams-Oliver syndrome.
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PMID:Adams-Oliver syndrome: further evidence of an autosomal recessive variant. 1755 26


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