Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020440 (hypercapnia)
 7,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 69-year-old Japanese woman initially noticed difficulty in squatting in the last two years, followed by nasal voice, fatiguability in mastication, and blepharoptosis. On admission to our hospital, in addition to these neurological findings, we detected ectopic arrhythmia and Levine II systolic murmur at the apex region, without any subjective symptoms. The serum titer of anti-acetylcholine receptor antibody was elevated to 28 nmol/l (normal: < 0.2), and she responded to repetitive nerve stimulation at a frequency of 3 Hz showing 13% waning, she had positive test for edrophonium administration, and was diagnosed as having myasthenia gravis (MG). There was no thymoma by radiographic examination. She also had Hashimoto's disease confirmed by the laboratory findings. Chest X-p revealed dilatation of the heart, and 24-hour Holter ECG revealed non-sustained ventricular tachcardia (VT). Ventriculography revealed prominent dilatation of the left ventricle and diffuse hypokinetic ventricular wall motility. Endomyocardial biopsy revealed muscle fiber degeneration, cellular infiltration, and scattered multinucleated giant cells, confirming a diagnosis of giant cell myocarditis (GCM). Quadriceps muscle biopsy revealed a small number of muscle fibers with giant nuclei, but no giant cells were seen. Immunological study revealed elevation of CD4/CD8 ratio and memory CD4 cells. Antibody to anti-cardiac and anti-striate muscle were strongly positive in the serum. Four months later, she developed dyspnea on effort and hypoxia, accompanied by severe bradycardia leading to sinus arrest. For acute cardiac deterioration, steroid pulse therapy was started followed by oral predonisolone and azathioprine, which aggravated myasthenic symptoms. The patient was ventilated for respiratory hypercapnia. During immunoabsobent therapy, she developed VT which caused a cardiac arrest, leading to fatal outcome. In case of MG, especially overlapped with other autoimmune diseases, evaluation of cardiac function should be conducted to detect GCM.
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PMID:[Giant-cell myocarditis without a symptom of heart failure seen in a patient with myasthenia gravis and concurrent Hashimoto's disease]. 1208 Jun 16

A female in her late 60s with chronic kidney disease was admitted to the emergency department with complaints of dizziness four days prior to hospitalization. Cibenzoline (300 mg/day) was administered for atrial fibrillation, which was detected in an electrocardiogram. After three days, she experienced blepharoptosis and was admitted for suspected myasthenia gravis. However, the anti-acetylcholine receptor antibody and edrophonium tests were negative. On day four after hospitalization, she suffered from pneumonia with pleural effusion and she was put on a respirator for four days. From day 16 after hospitalization, she had diarrhea and her renal function worsened. At the same time, a gradual aggravation of right blepharoptosis, dull headache, weakness and difficulty in chewing were noted. She experienced dyspnea on day 31 after hospitalization. Chest X-ray film did not show a pneumonia shadow or pleural effusion, and arterial blood gases revealed hypercapnia; she was diagnosed as having CO2 narcosis due to respiratory muscle fatigue and was put on a respirator again. Myasthenia-like syndrome was suspected because of a probable overdose of cibenzoline and administration of cibenzoline was withdrawn. Her condition improved and she was taken off the respirator on day 35 after hospitalization. Repetitive stimulation of 5 Hz was applied to her right facial nerve along with evoked electromyogram(EMG) on days 2 and 11 after discontinuing cibenzoline. On day 2, the EMG showed a waning phenomenon, whereas no such phenomenon was seen on day 11. The blood concentration of cibenzoline immediately after withdrawal was extremely high (2448 ng/mL). When this drug is administered to a patient with chronic kidney disease, attention must be paid to the indication, dose, and manifestation of the possible side effects.
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PMID:[Myasthenia-like syndrome induced by cibenzoline overdose in a patient with chronic kidney disease]. 1906 53

We present a case of postural hypoxemia with a final diagnosis of myasthenia gravis (MG). A 62-year-old man experienced double vision in his left eye from December 2008 and received a diagnosis of diabetic neuropathy. From mid-December he began to experience breathing difficulties at night when in a supine position and was admitted to our hospital. Bilateral diaphragmatic elevation was observed on a chest X-ray film, and lower lung atelectasis and an anterior mediastinal tumor were observed on chest CT. However, his breathing difficulties only occurred when he was in a supine position. Therefore, we performed blood gas analysis in supine and sitting positions. Hypoxemia, hypercapnia and an increase in A-aDO2 were observed in the supine position, leading to a diagnosis of postural hypoxemia. Due to the exacerbation of his double vision, the patient was referred to the ophthalmology and neurology departments where he tested positive for anti-acetylcholine receptor antibodies and also on a tensilon test, resulting in a final diagnosis of MG. During the tensilon test, the patient's breathing difficulties in the supine position improved, and therefore his postural hypoxemia was thought to have resulted from diaphragmatic muscle weakness as a result of MG. MG respiratory failure is typically of the acute fulminating type and is considered to be a critical condition. However, it should be noted that there are cases, such as the present one, in which MG presents as postural hypoxemia.
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PMID:[A case of postural hypoxemia with a final diagnosis of myasthenia gravis]. 2235 50

We here report on a 74-year-old man diagnosed with a pT3cN0 BRAF-mutated and mismatch repair-deficient adenocarcinoma in the colon ascendens and 3 liver metastases. After hemicolectomy, the patient received treatment with the PD-1 inhibitor pembrolizumab. Three weeks later (on day 22), laboratory tests showed leukocytosis and an increase in transaminases; immune checkpoint inhibitor (ICI)-induced hepatitis was suspected and prednisolone therapy was initiated. On day 29, the patient was acutely hospitalized due to dyspnea, somnolence and walking difficulties. Dysarthria, hoarseness, muscle pain and weakness had developed and the dose of prednisolone was increased. Serum levels of lactate dehydrogenase, creatine kinase and myoglobin were increased and ICI-induced myositis was suspected. Antibodies against acetylcholine receptor and titin were present, indicating myasthenia gravis. Eventually, bulbar myopathy developed, including dysarthria and dysphagia, and the patient could no longer attain saturation without oxygen. The patient was transferred to the intensive care unit, intubated and given methylprednisolone, intravenous immunoglobulins and infliximab. The patient developed carbon dioxide retention and died on day 39. Microscopical examination of the intercostal musculature, diaphragm, cervical musculature and tongue showed inflammatory infiltration and fibrosis consistent with a pronounced myositis. In the liver, microscopical examination did not show metastases from colorectal cancer but instead a hepatocellular cancer. The cause of death was determined as respiratory insufficiency due to polymyositis. In conclusion, ICIs may induce myositis combined with neurological immune-related adverse events. In patients developing muscle weakness and pain under ICI therapy, myositis should be suspected.
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PMID:Immune Checkpoint Inhibitor-Induced Polymyositis and Myasthenia Gravis with Fatal Outcome. 3325 Jul 39