Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 60-year-old man with a 40-year history of seronegative ocular myasthenia gravis (MG) developed generalized weakness cumulating crisis over 2 years. On admission, ophthalmoplegia, severe ptosis and marked generalized weakness were observed without autonomic symptoms and signs. The deep tendon reflexes were decreased, but were normalized after repeated muscle contractions. EMG of the abductor digiti minimi muscle showed low amplitude in compound muscle action potentials (0.6 mV), waxing phenomenon (292%) with 20 Hz repetitive nerve stimulation (RNS), waning phenomenon (34%) in 3 Hz RNS, and posttetanic facilitation (393%). Stimulated single fiber EMG showed reduced jitter with higher stimulation rates. Serum anti-P/Q-type voltage-gated calcium channel antibodies were negative with no evidence of malignancy. Sensitive assay of acetylcholine receptor antibody in serum revealed a positive titer, while conventional assay was negative. A muscle biopsy was performed and immune complex deposition was demonstrated at the endplate. A nearly complete clinical remission and normalization of electrophysiological features followed immunoadsorption and prednisolone therapy. A sensitive immunoassay of acetylcholine receptor antibodies and immunolocalization of complement at the endplate are useful diagnostic tools in cases presenting with features of myasthenia gravis and Lambert-Eaton myasthenic syndrome.
 ...
PMID:[Myasthenia gravis with electrophysiological features of Lambert-Eaton myasthenic syndrome: usefulness of serum autoantibodies assay and neuromuscular junction biopsy]. 1042 44

Ocular manifestations of myasthenia gravis are very common. Myasthenia gravis may be associated with lung carcinoma. Lambert-Eaton syndrome is also commonly associated with lung carcinoma and can have ocular manifestations. Overlap of these two entities has been described. The case of a patient with fatigable diplopia and ptosis 3 years after removal of a large-cell lung carcinoma is presented. Tests results for acetylcholine receptor binding and modulating antibodies were positive for myasthenia gravis. Test results for presynaptic voltage-gated calcium channel antibodies of the N-type were also positive. However, test results for the P/Q-type voltage-gated calcium channel antibodies, which are consistent with Lambert-Eaton syndrome, were negative. Autoantibodies can be used to serologically distinguish paraneoplastic myasthenia gravis from Lambert-Eaton syndrome.
 ...
PMID:Myasthenia gravis with a paraneoplastic marker. 1087 Sep 23

A 67-year-old man was admitted with a 2-year history of dropped head. Neurological examination revealed ptosis, dysarthria, neck weakness, hyporeflexia of all limbs, and autonomic failure. Electrophysiologic study showed a 400% increment response to high-rate repetitive nerve stimulation. Serum anti-P/Q-voltage-gated calcium channel antibody was positive, confirming the diagnosis of Lambert-Eaton myasthenic syndrome (LEMS). His symptoms and electrophysiological abnormalities improved with oral prednisolone following plasmapheresis. This is the first report of LEMS as a cause of dropped head syndrome.
 ...
PMID:"Dropped head syndrome" caused by Lambert-Eaton myasthenic syndrome. 1953 55

We report the case of a 50-year-old man with paraneoplastic cerebellar degeneration (PCD) and Lambert-Eaton myasthenic syndrome (LEMS) associated with primary double lung cancer. He developed acute progressive double vision, slurred speech, and gait disturbance. Neurological examination revealed diplopia, mild ptosis, bilateral horizontal gaze-evoked nystagmus, and cerebellar limb and truncal ataxia. The diffusion image of brain magnetic resonance imaging (MRI) revealed no abnormal findings in the cerebellum. On the basis of the diagnosis of acute cerebelitis, he was given methylprednisolone pulse therapy followed by oral prednisolone, which gradually improved his neurological signs and symptoms. The analysis of the possible etiology suggested that the PCD was induced by lung cancer, which led to ataxia. A chest computed tomography scan revealed mass lesions of irregular shape and unclear margins in the upper lobe of the right lung and a small nodule tumor in the upper lobe of the left lung. We performed transbronchial needle aspiration and detected the bronchioloalveolar carcinoma of the right lung. An electromyogram showed waxing phenomenon in the ulnar nerve at high-frequency (50Hz) stimulation. The serum levels of anti-P/Q-type voltage-gated calcium channel (VGCC) antibody were elavated in the patient. These findings confirmed that the pathogenesis of the condition of this patient to be associated with LEMS. His cerebellar symptoms were considered to be caused by the PCD, and the diplopia, ptosis, and hyporeflexia were attributed to LEMS. We performed upper left lobectomy with mediastinal lymphnode dissection via video-assisted thoracoscopic surgery. A histological study detected small cell carcinoma. A diagnosis of double primary lung cancer was made. Physicians need to be aware that patients may develop PCD and LEMS associated with anti-VGCC antibody caused by small cell lung cancer, and a mass survey should be conducted and careful examinations performed.
 ...
PMID:[Paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome associated with anti P/Q-type voltage-gated calcium channel antibody in a patient with primary double lung cancer]. 1980 9

A 58-year-old man complaining of increasing weakness of muscular leg strength, diplopia and ptosis was admitted to our hospital. An electromyogram (EMG) showed typical waxing phenomenon in response to high-frequency repetitive stimulation. A diagnosis of Lambert-Eaton myasthenic syndrome (LEMS) was made from his symptoms and EMG results. A chest CT showed mediastinal lymph node swelling. No abnormal mass was seen in either lung field. His serum levels of a P/Q-type anti-voltage-gated calcium channel (VGCC) antibody, Pro-GRP, and NSE were high. FDG-PET showed accumulation of FDG to the mediastinal and left inguinal lymph nodes. The left inguinal lymphadenopathy was pathologically diagnosed as metastasis of small cell lung carcinoma. No tumor could be detected by bronchofiberscopy. No other distant metastasis was detected by brain MRI, abdominal CT, or FDG-PET. After 6 courses of chemotherapy for SCLC, a partial response and reduction of symptoms were obtained. For assessment of indistinguishable neuropathic symptoms, the possible diagnosis of paraneoplastic syndrome, such as LEMS, and the fact that early treatment for primary disease was effective, should be considered.
 ...
PMID:[A case of small cell lung carcinoma without apparent primary lesion accompanying Lambert-Eaton myasthenic syndrome]. 2005 96

History A 29-year-old woman presented with a 6-month history of progressive general fatigue, fluctuating limb weakness, and difficulty climbing stairs. She initially experienced occasional episodes of transient diplopia that developed while reading in the evening. She subsequently started to experience dry eyes and mouth, difficulty chewing, and mild dysphagia that worsened throughout the day. Her medical history included hypothyroidism from Hashimoto thyroiditis and pneumonia with left pleural effusion. She had no smoking history, and her body mass index was normal (23.8 kg/m2). No medication use was reported at admission. Physical examination revealed mild bilateral ptosis, reduced muscle tone and strength that worsened in proximal leg muscles, and decreased deep tendon reflexes. An edrophonium test revealed improvement in muscle strength and eyelid ptosis. Repetitive nerve stimulation revealed low amplitude of compound muscle action potential at rest (0.21 mV), with a marked increase (700%; normal increase, <60%) at high-rate stimulation (50 Hz). Laboratory work-up was unremarkable except for detection of acetylcholine receptor antibodies in the serum (21.30 nmol/L) and P/Q-type voltage-gated calcium channel antibodies (220 pmol/L). Recent MRI of the brain and spine at an outside hospital showed no abnormal findings. At admission, the patient underwent CT of the chest, abdomen, and pelvis ( Fig 1 ) followed by thoracic MRI ( Figs 2 , 3 ) to further evaluate CT findings. [Figure: see text][Figure: see text][Figure: see text][Figure: see text][Figure: see text][Figure: see text][Figure: see text][Figure: see text].
 ...
PMID:Case 261. 3012 24

History A 29-year-old woman presented with a 6-month history of progressive general fatigue, fluctuating limb weakness, and difficulty climbing stairs. She initially experienced occasional episodes of transient diplopia that developed while reading in the evening. She subsequently started to experience dry eyes and mouth, difficulty chewing, and mild dysphagia that worsened throughout the day. Her medical history included hypothyroidism from Hashimoto thyroiditis and pneumonia with left pleural effusion. She had no smoking history, and her body mass index was normal (23.8 kg/m2). No medication use was reported at admission. Physical examination revealed mild bilateral ptosis, reduced muscle tone and strength that worsened in proximal leg muscles, and decreased deep tendon reflexes. An edrophonium test revealed improvement in muscle strength and eyelid ptosis. Repetitive nerve stimulation revealed low amplitude of compound muscle action potential at rest (0.21 mV), with a marked increase (700%; normal increase, <60%) at high-rate stimulation (50 Hz). Laboratory work-up was unremarkable except for detection of acetylcholine receptor antibodies in the serum (21.30 nmol/L) and P/Q-type voltage-gated calcium channel antibodies (220 pmol/L). Recent MRI of the brain and spine at an outside hospital showed no abnormal findings. At admission, the patient underwent CT of the chest, abdomen, and pelvis followed by thoracic MRI to further evaluate CT findings.
 ...
PMID:Case 261: Thymoma Embedded in Thymus with Pleural Implant in Myasthenia Gravis Lambert-Eaton Overlap Syndrome. 3057 77

Lambert-Eaton myasthenic syndrome (LEMS) is a representative paraneoplastic neurological syndrome. Recently, nivolumab, an anti-programmed cell death 1 inhibitor, has been approved for advanced non-small-cell lung cancer. Careful attention should be paid to immune-related adverse events (irAEs), including neurotoxicity. We herein report a 73-year-old woman with LEMS that occurred during nivolumab treatment for pulmonary squamous cell carcinoma. After the 20th week of nivolumab, she experienced various neurological symptoms such as ptosis, lower limb weakness, and photophobia. Findings from a nerve conduction study and a positive anti-P/Q-type voltage-gated calcium channel antibody made a diagnosis of LEMS. Pyridostigmine and 3,4-diaminopyridine temporarily improved her symptoms. This was the first case of LEMS as a neurological irAE. LEMS should be considered as a possible neurological irAE.
 ...
PMID:Lambert-Eaton Myasthenic Syndrome Caused by Nivolumab in a Patient with Squamous Cell Lung Cancer. 3062 2