Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0009443 (cold)
 92,137 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glomus tumors are benign neoplasms that differentiate from the glomus apparatus. This neoplasm is clinically characterized by a typical symptomatological triad: paroxysmal pain, pinpoint pain and hypersensitivity to cold. The diagnosis is usually clinical, but can be confirmed by instrumental tests such as X-ray, MRI, selective arteriography and most commonly by ultrasound, with or without Doppler. Surgical resection of the glomus tumor is the definitive treatment with resolution of all symptoms. From 1997 to 2007, 21 surgically-treated cases were reviewed and here we report the clinical assessment that was used. The nine most recent cases of glomus tumor underwent surgery after clinical assessment alone. In our opinion clinical examination is the most effective method to diagnose this type of tumor and in selected cases it may be sufficient to undergo surgical therapy.
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PMID:The value of clinical diagnosis of digital glomus tumors. 1880 92

A 21-year-old man with a muscular atrophy of the left distal upper extremity is presented. The disorder had been progressive over a few years, showing an exacerbation of the hand's weakness when the patient worked in a chilled environment (i.e., in a cold room). The patient's diagnostic work-up was extensive and the MRI documented the presence of a cervical myelopathy, associated to an inversion of the physiological lordosis at the C5-C6 level, with a phenotype highly resembling Hirayama disease. This case indirectly supports the debated hypothesis that juvenile amyotrophy of the upper limb (Hirayama disease) is actually a type of cervical myelopathy, with a likely ischaemic pathogenesis of the ventral horns.
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PMID:A cervical myelopathy with a Hirayama disease-like phenotype. 1905 49

Acute hemorrhagic leukoencephalitis (AHL) is a rare demyelinating disease mainly affecting children, characterized by acute onset, progressive course and high mortality. A 62-year-old man was admitted to our Unit for diplopia and ataxia ensuing 2 weeks after the onset of pneumonia. MRI T2-weighted images showed signal hyperintensities in the brainstem. Antibodies against Mycoplasma Pneumoniae and cold agglutinins were found. Two weeks later the patient had a worsening of his conditions: he developed left hemiplegia with motor focal seizures and the day after he was deeply comatose (GCS = 4). A second MRI scan showed extensive hyperintensities involving the whole right hemisphere white matter with a small parietal hemorrhagic area. The clinical and neuroimaging features suggested the diagnosis of AHL, Aciclovir in association with steroid therapy were administered and then plasmapheresis was started. After 30 days of coma, the patient gradually reacquired consciousness and motor functions; anyway a left hemiplegia persisted.
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PMID:Acute hemorrhagic leukoencephalitis with atypical features. 1914 2

A 59-year-old Japanese woman developed numbness below the level of the lower chest (day 1). She showed mild paraparesis and mild sensory disturbance below the level of Th8. Anti-HTLV-1, antinuclear, and anti-SS-A antibodies were negative. The cerebrospinal fluid yielded 10 lymphocytes/microl and IgG index 0.46. MRI demonstrated a centrally located hyperintense spinal cord lesion at the level of Th4-6, but there were no lesions in the brain. Weakness improved after two courses of intravenous infusion of methylprednisolone 1000 mg. On day 67, she developed paraplegia, urinary retention, a Th4 sensory level, and loss of position sense in the lower limbs. EDSS score was 8.0. MRI demonstrated a cord lesion extending from C6 through Th10 levels. Serum anti-aquaporin 4 (AQP4) antibody was positive. After immunoadsorption plasmapheresis, strength improved. Visual evoked potential was delayed in the right eye. This case represents a high-risk syndrome of neuromyelitis optica. As the patient had diabetes, ocular hypertension, and a high risk of osteoporosis, she was started on ciclosporin in addition to a tapering dose of glucocorti-cold. The patient has remained relapse free for more than one year and serum anti-AQP4 antibody became negative. This case suggests possible beneficial effects of cyclosporin in preventing attacks of myelitis with anti-AQP4 seropositivity.
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PMID:[Relapsing transverse myelitis with anti-aquaporin 4 seropositivity: possible beneficial effects of ciclosporin]. 1922 97

A 58-year-old man was admitted to our hospital with fever, vomiting and disturbance of consciousness after common cold-like symptoms for 2 days. Physical examination showed high fever, moderate hypertension and tachycardia. There were no superficial lymph nodes swelling nor skin rashes. Cerebrospinal fluid (CSF) examination revealed increased protein level (467 mg/dl) and pleocytosis (508 cells/mm3), but no glucose was detected. CSF smear test detected the pneumococcus. Intravenous cefotaxime was administered along with intravenous immunoglobulins and steroid pulse therapy. However, DIC developed, so FOY therapy was started. With these treatments, level of consciousness gradually improved and he became able to eat. At 11th days after the onset, the patient suddenly developed left facial palsy and paresis of the left arm. Head T2-weighted magnetic resonance imaging demonstrated tumor-like hyperintensity signal lesions (28 x 16.6 mm) with ring enhancements in the right frontal lobe. Acute disseminated encephalomyelitis (ADEM) was diagnosed based on MRI and CSF findings, and then additional corticosteroid pulse therapy was administered twice. Herpes simplex virus and herpes zoster virus DNA in the CSF were undetectable by PCR. After 6 days of treatment with corticosteroid pulse therapy, left facial palsy and paresis of the left arm gradually improved and MRI showed the disappearance of tumor-like hyperintense signals. Although ADEM usually develops as a complication after viral infection such as measles, rubella, mumps and herpes zoster, this case suggests that ADEM complication should be considered even after pneumococcal meningoencephalitis.
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PMID:[A case of acute disseminated encephalomyelitis (ADEM) following treatment for pneumococcal meningoencephalitis]. 1934 73

Anti-NMDA receptor encephalitis is a treatment-responsive encephalitis associated with anti-NMDA receptor antibodies, which bind to the extracellular conformal epitope in NR1/NR2 heteromers of the NMDA receptor, although recent data have demonstrated that its critical epitope region resides in the NR1 subunit. This disorder usually develops in young women with ovarian teratoma, who typically present with prominent psychiatric symptoms, often preceded by a common cold-like illness. Most cases develop seizures, followed by an unresponsive/catatonic state, prolonged cloudiness of consciousness, central hypoventilation, bizarre dyskinesias, and autonomic symptoms. Brain MRI is often unremarkable. CSF reveals nonspecific changes. EEG usually shows diffuse slowing without paroxysmal discharges. Tumor occurrence was initially believed to be 100%, but now it is estimated to comprise 58% of all cases, 62% in women and 22% in men. The median age at onset is 23 years, but it develops between 5 to 76 years. Although early tumor resection with immunotherapy is recommended, spontaneous recovery also occurs. The pathogenesis remains unknown; however, a recent study demonstrated that the antibodies reversibly inhibit the clustering of the NMDA receptor on the neuronal cell membrane. Based on symptomatology, we speculate that an antibody-mediated inhibition of the NMDA receptor on presynaptic GABAergic interneurons may reduce the release of GABA, causing the disinhibition of postsynaptic glutamatergic transmission, excessive release of glutamate in the prefrontal/subcortical structures, and glutamate and dopamine dysregulation. Acute juvenile female non-herpetic encephalitis (AJFNHE) has been proposed as a distinct clinical entity in Japan independently of tumor presence since 1997, when 5 young women with encephalitis were reported. A recent study suggested that these disorders are identical.
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PMID:[Anti-NMDA receptor antibody-mediated encephalitis/encephalopathy]. 1936 96

Sporadic juvenile muscular atrophy of the distal upper extremity or Hirayama's disease (HD) and autosomal dominant motor distal neuronopathy/axonopathy (CMT2D/dSMA-V), produced by glycyl-tRNA synthetase (GARS) gene mutations, share some clinical features including: young age of onset, predilection for the distal upper extremity, asymmetry, sparing of proximal muscles and unusual cold sensitivity. However, incomplete penetrance of GARS gene mutations may account for apparently non-familial cases. In order to inquire whether GARS gene mutations are associated with HD we studied seven patients fulfilling the clinical and electrodiagnostic criteria for HD. All patients underwent MRI of cervical spine that excluded compressive myelopathy in neutral position and intramedullary pathology. Each patient was tested for the presence of mutations in GARS by sequencing all coding exons amplified from genomic DNA. No pathogenic mutations were found, excluding the role of GARS gene as a possible factor in the aetiology of HD in this cohort.
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PMID:Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease. 1941 16

The objective was to determine whether any measurable changes in sensory responses, kinesthetic sense, cervical motion, and psychological features were related to established fatty infiltration values in the cervical extensor musculature in subjects with persistent whiplash. It is unknown if fatty infiltrate is related to any signs or symptoms. Data on motor function, Quantitative Sensory Testing, psychological and general well-being, and pain and disability were collected from 79 female subjects with chronic whiplash. Total fat values were created for all subjects by averaging the muscle fat indices by muscle, level, and side from our MRI dataset of all the cervical extensor muscles. Results of this study indicate the presence of altered physical, kinesthetic, sensory, and psychological features in this cohort of patients with chronic whiplash. Combined factors of sensory, physical, kinesthetic, and psychological features all contributed to a small extent in explaining the varying levels of fatty infiltrate, with cold pain thresholds having the most influence (r (2) = 0.28; P = 0.02). Identifying and relating quantifiable muscular alterations to clinical measures in the chronic state, underpin some clinical hypotheses for possible pathophysiological processes in this group with a chronic and recalcitrant whiplash disorder. Future research investigations aimed at accurate identification, sub-classification, prediction, and management of patients with acute and chronic whiplash is warranted and underway.
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PMID:The clinical presentation of chronic whiplash and the relationship to findings of MRI fatty infiltrates in the cervical extensor musculature: a preliminary investigation. 1967 33

In this study, we report 11 patients with intractable childhood epilepsy that improved following acute viral infection. The patients were 8 boys and 3 girls. Six of the 11 children were diagnosed as West syndrome (5 of the symptomatic type and 1 of the cryptogenic type). The remaining 5 children were myoclonic seizures. The patients became seizure free within 6 days following acute viral infections without an exchange or addition of antiepileptic drugs (AEDs). The types of acute viral infections were Exanthema subitum (Roseola infantum) in 5 patients, Rotavirus gastroenteritis in 2 patients, Measles infection in 2 patients, Herpetic stomatitis in 1 patient and Common cold in the remaining patient. Salaam seizures and/or tonic spasms disappeared within 6 days after the onset of viral infections, and hypsarrhythmia evolved to localized spikes on electroencephalography (EEG) in the patients with West syndrome. Epileptic seizures disappeared rapidly and EEG gradually normalized or improved in patients with myoclonic seizures. Four patients became seizure free for 5 years to 20 years. In 6 patients, seizures relapsed within 14 days to 1 month after the disappearance of seizures. One child remained seizure free for 12 months after viral infection. Common factors in 4 children who were continuously seizure free include (1) normal or almost normal findings of brain CT/MRI, (2) normal development prior to the onset of epileptic seizures, and (3) a short time interval between the onset of seizures and the acute viral infection. We propose several hypotheses including an immunological effect for the improvement of intractable childhood epilepsy following acute viral infection. Further study may provide important information concerning the mechanism of seizure control and the applicable to treatment for intractable childhood epilepsy.
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PMID:Improvement of intractable childhood epilepsy following acute viral infection. 2447 97

A 700-mm bore superconducting magnet was built and operated in our laboratory to demonstrate the feasibility of newly developed MgB(2) superconductor wire for fabricating MRI magnets. The magnet, an assembly of 10 coils each wound with a reacted and s-glass insulated wire ~1-km long, was immersed in solid nitrogen rather than in a bath of liquid cryogen. This MgB(2) magnet was designed to operate in the temperature range 10-15 K, maintained by a cryocooler. A combination of this "wide" temperature range and immersion of the winding in solid nitrogen enables this magnet to operate under conditions not possible with a low temperature superconductor (LTS) counterpart. Tested individually at 13 K, each coil could carry current up to 100 A. When assembled into the magnet, some coils, however, became resistive, causing the magnet to prematurely quench at currents ranging from 79 A to 88 A, at which point the magnet generated a center field of 0.54 T. Despite the presence of a large volume (50 liters) of solid nitrogen in the cold body, cooldown from 77 K to 10 K went smoothly.
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PMID:A Solid Nitrogen Cooled MgB(2) "Demonstration" Coil for MRI Applications. 2039 56


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