Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

X-ray computed tomography (CT) of the eyeball and orbit revealed the cause of eye movement disorder in convergent strabismus fixus. The findings suggest that the disease can be diagnosed and treated at an early stage. Twelve cases of progressive esotropia with high myopia and 20 cases with normal visual acuity served as subjects in this study. The CT slice was parallel to the German horizontal plane, and the lens and medial and lateral rectus muscles were scanned. The average axial length of the affected eyes was significantly longer than in normal eyes. In progressive esotropia, the characteristic CT findings are an elongated eyeball, mechanical contact between the eyeball and lateral wall of the orbit, and a downward displacement of the lateral rectus muscle. Thus, it is reasonable to conclude that eye movement disorder in convergent strabismus fixus results from weakness of the lateral rectus muscle which has been displaced downward due to compression of the eyeball against the orbital wall.
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PMID:[Computed tomography findings in convergent strabismus fixus]. 767 1

We investigated a Japanese pedigree with oculopharyngeal muscular dystrophy (OPMD) which included the probands of two sisters and a brother. Case 1 (Fig. 1): A woman born in 1940 at Fuji City, Shizuoka prefecture (Pacific coast side, which located about 80 miles west from Tokyo) was insidiously suffering from dysphagia and eye lid ptosis since her age of 40. She was admitted to Shizuoka Red Cross Hospital when 48 years old, because of difficulty of going upstairs. Neurological examination revealed severe eye lid ptosis without eye movement disorders, dysphagia, and moderate weakness on neck and proximal muscles of extremities without definite atrophy and fasciculation. In the laboratory data, serum creatine kinase level was slightly elevated to 215 U/l. Electromyographic findings showed myogenic pattern on the extremities but no evidence of the existence of myasthenia gravis and neurogenic involvement. Intranuclear tubular filaments were found in 3% of muscle fibers from her left biceps muscle. Case 2: The elder sister of the case 1 was suffering from eye lid ptosis without eye movement disorder and severe dysphagia since the age of 44. Case 3: The younger brother of the case 1 was suffering from dysphagia and proximal muscle weakness since the age of 40. We found eye lid ptosis, dysphagia and/or proximal muscle weakness in 24 cases (men: 12 cases, women: 12 cases) out of 50 examined members of this pedigree after their ages of 40 (Fig.3; family tree). It was concluded that this pedigree had cases of oculopharyngeal muscular dystrophy with autosomal dominant inheritance which was quite rare in Japanese.
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PMID:[A Japanese pedigree with oculopharyngeal muscular dystrophy]. 792 58

We report a case of paraneoplastic neurological syndrome with anti-neuronal antibodies, namely anti-Hu and anti-GluR epsilon 2 antibodies in sera. A 72-year-old male had a transient history of eye movement disorder and sensory neuropathy, which improved spontaneously. Two years later, he was admitted to another hospital because of gait disturbance, numbness of the hands and an attack of unconsciousness with generalized convulsion. He was admitted to our hospital with prolonged consciousness disturbance and muscular weakness of all extremities. On admission his consciousness deteriorated slightly without neck stiffness. His cranial nervous system was normal except for incomplete abduction and elevation of both eyes. The patient had severe distal dominant weakness and atrophy in the muscles of all four limbs. Muscle tonus was decreased and hyporeflexia was noted in the four extremities. Plantar response was extensor. Neither sensory disturbance nor ataxia was observed. Cranial MRI showed T2-weighted high intensity lesions in the bilateral mesial temporal lobes, including the hippocampi. A nerve conduction study revealed motor-dominant peripheral neuropathy with prolonged latency; the amplitudes of compound muscle action potentials were severely reduced in all four limbs and those of sensory nerve action potentials were moderately reduced in the right upper and lower extremities. We also found a left hilar lymphadenopathy showing accumulation of FDG on PET, suggesting a possibility of malignancy. Anti-Hu and anti-GluR epsilon 2 antibodies were detected in sera but not in CSF. We diagnosed him with limbic encephalitis and peripheral neuropathy due to paraneoplastic neurological syndrome and treated him with two courses of intravenous immunoglobulin (IVIg) (400 mg/kg, 5 days). The consciousness disturbance, and prolonged distal latency revealed by motor nerve conduction studies improved slightly. Although the roles of anti-neuronal antibodies in paraneoplastic conditions remain unknown, we consider that IVIg may be worth using to treat cases with anti-Hu and anti-GluR epsilon 2 antibodies.
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PMID:[A case of anti-Hu antibody- and anti-GluR epsilon2 antibody-positive paraneoplastic neurological syndrome presenting with limbic encephalitis and peripheral neuropathy]. 2068 Dec 63

OBJECTIVE Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) is a novel, minimally invasive treatment that has multiple advantages in pediatric use and broad applicability for different types of lesions. Here, the authors report the preliminary results of the first series of pediatric brain tumors treated with MRgLITT at Golisano Children's Hospital in Syracuse, New York. METHODS Pediatric brain tumors treated with MRgLITT between February 2012 and August 2014 at Golisano Children's Hospital were evaluated retrospectively. Medical records, radiological findings, surgical data, complications, and results of tumor volumetric analyses were reviewed. The Visualase thermal laser system (Medtronic) was used in all MRgLITT procedures. RESULTS This series included 11 patients with 12 tumors (pilocytic astrocytoma, ependymoma, medulloblastoma, choroid plexus xanthogranuloma, subependymal giant cell astrocytoma, and ganglioglioma). A single laser and multiple overlapping ablations were used for all procedures. The mean laser dose was 10.23 W, and the mean total ablation time was 68.95 seconds. The mean initial target volume was 6.79 cm(3), and the mean immediate post-ablation volume was 7.86 cm(3). The mean hospital stay was 3.25 days, and the mean follow-up time was 24.5 months. Tumor volume decreased in the first 3 months after surgery (n = 11; p = 0.007) and continued to decrease by the 4- to 6-month followup (n = 11; mean volume 2.61 cm(3); p = 0.009). Two patients experienced post-ablation complications: transient right leg weakness in one patient, and transient hemiparesis, akinetic mutism, and eye movement disorder in the other. CONCLUSIONS Magnetic resonance-guided laser interstitial thermal therapy is an effective first- or second-line treatment for select pediatric brain tumors. Larger multiinstitutional clinical trials are necessary to evaluate its use for different types of lesions to further standardize practices.
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PMID:Magnetic resonance-guided laser interstitial thermal therapy: report of a series of pediatric brain tumors. 2684 11

A 66-year-old woman who had myasthenia gravis (MG) admitted for type II respiratory failure and right heart failure. Although she had neither ptosis, eye movement disorder, nor diplopia, she had orbital muscles weakness, reduction of gag reflex, dysarthria, dysphagia, and mild proximal muscle weakness. Blood tests showed anti-striated muscle antibodies (anti-titin antibody and anti-Kv1.4 antibody). A muscle biopsy of the left biceps showed a marked variation in fiber size, mild mononuclear cell infiltration was seen surrounding blood vessels in perimysium and nemaline bodies in some fibers. Immunohistochemical stains showed many muscle fibers express HLA-ABC. The patient was diagnosed as sporadic late-onset nemaline myopathy (SLONM) with MG, and treated by tacrolimus. After treatment, her respiratory function gradually improved and she discharged. In the case of atypical MG, measurement of anti-striated muscle antibody or muscle biopsy should be considered.
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PMID:[A case of sporadic late-onset nemaline myopathy associated with myasthenia gravis positive for anti-titin antibody and anti-Kv1.4 antibody]. 3253 68