Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a 67-year-old woman with ptosis, double vision, dysphagia, ambiguous Tensilon tests, normal acetylcholine-receptor antibodies, normal thymus, and repeatedly abnormal responses to low-frequency repetitive stimulation, ocular myasthenia was suspected. Pyridostigmin was ineffective, but corticosteroids improved the abnormalities. Despite this therapy, lower-limb weakness developed. Reevaluation disclosed abnormal increase of serum lactate during slight exercise, myogenic electromyography, ragged-red fibers, reduced oxidative enzyme staining and abnormally shaped and structured mitochondria on muscle biopsy, and a respiratory chain complex-I defect on biochemical investigation of the muscle homogenate. Respiratory chain disorder due to complex-I defect with abnormal decremental response to low-frequency repetitive stimulation was diagnosed. It is concluded that respiratory chain disorders due to a complex-I defect may mimic ocular myasthenia clinically, electrophysiologically, and even therapeutically.
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PMID:Respiratory chain complex-I defect mimicking myasthenia. 1189 8

A large, firm lipoma was found in the cranial mediastinum of a 3-year-old female prairie dog (Cynomys ludovicianus). It encompassed the carotid arteries, jugular veins, and thymus, and compressed the esophagus and trachea. Localized compression caused dysphagia, weight loss, and dyspnea, which eventually resulted in death. Most reports on prairie dogs involve their use in research on gallbladder contractility and its role in formation of cholesterol gallstones. There are few reports on naturally developing diseases in prairie dogs, and reports of neoplasia consist of only hepatocellular carcinoma and epiglottal fibrosarcoma. Intrathoracic lipomas have been reported as rare tumors in human beings, dogs, and rats. We describe here an intrathoracic lipoma in a prairie dog and information about this type of tumor in other species.
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PMID:Lipoma in the Mediastinum of a Prairie Dog (Cynomys ludovicianus). 1245 84

We report two cases of ectopic cervical thymus, a solid thymic lesion, and a thymus cyst causing inspiratory stridor and mild dysphagia in the neonatal period. Because of the rarity of thymic dystopia, the two masses were initially misdiagnosed as more common entities, namely, lymph node enlargement and lymphangioma, respectively. The correct diagnosis was made only after surgical excision and histopathological examination. This case report is completed by a short review of embryogenic development, diagnostic procedures with differential diagnoses, and therapeutic outcome of ectopic thymus.
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PMID:Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue. 2130 69

Presence of thymus in the normal position as well as in the posterior mediastinum is an unusual phenomenon. We report here a case of posterior mediastinal mass in a 20-month old male child who presented with dysphagia and dry cough. Investigations revealed it to be a solid posterior mediastinal mass, suspected to be either lymphoma or a neuroblastoma. Excision of the mass followed by histopathologic examination revealed the mass to be a normal thymus. This case indicates that a benign mass, an accessory thymus, though rare, can be located in the posterior mediastinum and cause symptoms similar to solid mediastinal tumors.
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PMID:Accessory thymus in posterior mediastinum. 2001 97

Thymic seminoma is a rare clinical entity. We report a case of an 18-year-old male patient who presented with chest pain, dyspnea, dysphagia of 1-month duration. Contrast-enhanced computer tomogram of chest showed an anterior mediastinal mass. He was subjected to thoracotomy and excision of the mass. Histopathology examination revealed seminoma of thymus. He failed to follow up for a period of 8 months post-surgery as he was asymptomatic. He then presented with a recurrence of the tumor locally, along with metastases to the lung, para-aortic and peri-aortic lymph nodes. He was kept on cisplatin, bleomycin and etoposide.
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PMID:Thymic seminoma. 2066 9

Basaloid squamous cell carcinoma (BSCC) is a histologically distinctive variant of squamous cell carcinoma comprising basal cell carcinoma and squamous cell carcinoma. BSCC is aggressive and shows a poor prognosis because of frequent lymph node invasion and distant metastases. BSCC preferentially occurs in the cervix, thymus, and esophagus and is uncommonly found in the head and neck region. BSCC in the nasal cavity or paranasal sinus is particularly rare. Inverted papilloma is an uncommon, benign tumor with a propensity to be associated with malignancy; however, BSCC arising in an inverted papilloma has never been reported. Here we report a case of a 56-year-old woman with BSCC arising in an inverted papilloma in the nasal cavity. The woman was referred to our hospital for epistaxis, nasal congestion, and dysphagia. A tumor was observed to completely occupy the left nasal cavity. The biopsy specimen was histologically diagnosed as papilloma. Computed tomography demonstrated a tumor with heterogeneous contrast effect occupying the left nasal cavity; however, extra-nasal tract extension was not observed. We performed endoscopic excision of the tumor. Microscopic findings confirmed the diagnosis of BSCC arising from an inverted papilloma. No tumor recurrence has been observed for 13 months after surgery.
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PMID:Basaloid squamous cell carcinoma arising in an inverted papilloma in the nasal cavity: A case report and review. 2772 Apr 80

BACKGROUND HIV infections with concomitant immunologically-mediated disorders have been frequently described but there has been little research on the association between HIV and myasthenia gravis. MuSK myasthenia gravis coexisting with HIV is an even a rarer entity and can occur as a part of immune restoration disease. We report the case of a patient with asymptomatic HIV infection who presented with new-onset MuSK myasthenia gravis. CASE REPORT A 44-year-old African-American woman with HIV since 2004 and on highly active antiretroviral therapy (HAART) presented to the ED with complains of double vision and difficulty swallowing for 2 weeks. The patient was intermittently on HAART therapy. On examination, she had bilateral ptosis, weak orbicularis oris and orbicularis oculi, along with mild lateral gaze palsy of the left eye. Her CD4 count was 383 and the viral load was undetectable. An MRI of the brain produced normal results and a CT chest did not show thymus enlargement. Due to worsening symptoms and high suspicion for myasthenia gravis, she was started on IVIG at 0.4 mg/kg/day for 5 days, and her symptoms markedly improved. She was found to have strongly positive MuSK antibody and negative Ach receptor antibody. Repetitive nerve stimulation showed a 13% decrease in the right median nerve, which confirmed the diagnosis. She was subsequently discharged to home on pyridostigmine. Azathioprine was added at clinic follow-up. The patient continues to improve. CONCLUSIONS As the use of antiretroviral therapy increases, immune reconstitution syndromes have become more common. Rare associations like HIV and MuSK myasthenia gravis are being increasingly reported. The use of immunosuppressants in the treatment of these conditions should be carefully evaluated.
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PMID:Comorbid Human Immunodeficiency Virus (HIV) and Muscle-Specific Kinase (MuSK) Myasthenia Gravis: A Case Report and Literature Review. 2842 53

This is a patient who was presented initially with symptoms of malaise, tiredness and exertional dyspnoea and found to have a severe normocytic normochromic anaemia with low reticulocyte counts. Bone marrow confirmed the diagnosis of pure red cell aplasia (PRCA) and at the time serology for recent parvovirus infection was positive. He was successfully treated with transfusions and intravenous Ig. Six years later, he had a mild relapse of his PRCA and subsequently developed severe dysphagia and dysarthria which were fatigable. Positive antiacetylcholine receptor antibodies confirmed the diagnosis of myasthenia gravis. The two conditions are both known to be associated with thymoma. Imaging and resection of the thymus gland showed only the presence of a thymic cyst. Treatment with pyrdistogmine and intravenous Ig have kept the patient asymptomatic and in remission. The rare association of the two autoimmune conditions associated in the same patient without thymoma is discussed.
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PMID:Pure red cell aplasia and myasthenia gravis: a patient having both autoimmune conditions in the absence of thymoma. 2889 3

Lymphoepithelioma-like carcinoma of esophagus is a rare tumor with about 20 cases reported worldwide. It can involve the salivary gland, esophagus, stomach, thymus, thyroid, breast, lung, uterus, cervix, urinary bladder, and the skin. Its association with Epstein Barr virus has been postulated. We report the case of a 45-year female who had been treated for hepatitis C and esophageal tuberculosis and recovered fully from these conditions. She presented with dysphagia of 2-3 month duration. Endoscopic examination revealed narrowing of the esophageal lumen with a fungating mass at the lower end of esophagus with no extension into the stomach. ACTscan confirmed a mass at the lower end of esophagus with multiple enlarged mediastinal lymph nodes. Histological and immunohistochemistry of esophageal biopsy sample showed lymphoepithelioma-like carcinoma. She was managed with chemotherapy comprising of capecitabine, epirubicin and cisplatin followed by esophagectomy and made full recovery.
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PMID:Lymphoepithelioma-Like Carcinoma of the Esophagus: A Rare Tumor. 2896 45

Thymic lymphoid hyperplasia with Graves' disease (GD) is not uncommon in adults. Generally, cases are newly diagnosed with GD when they refer to the department of endocrinology in hospital, and an anterior mediastinal mass is found on a computed tomography scan by accident. Almost half of them receive thymectomy due to the concern about thymoma or thymic carcinoma. In the past literature, an enlarged thymus can gradually shrink after treatment of antithyroid drugs. In this paper, a 28-year-old woman presented to our hospital with a 11-month history of dizziness, left hand convulsion and paralysis, without chest pain, difficulty swallowing, dyspnea. Chest computed tomography revealed an anterior mediastinal mass without obvious nodules. However, in this case, the mass did not shrink obviously after regularly taking antithyroid drugs. In order to figure out the diagnosis of the mass, we performed a thoracoscopic thymic resection, and the pathologic result was thymic lymphoid hyperplasia. There is no thymus gland tissue left on a repeated CT scan four months later after surgery. In this report, we discuss the optimal therapeutic strategy for this rare case. In conclusion, if an anterior mediastinal mass in GD patients did not shrink obviously upon treatment of antithyroid drugs, minimally invasive surgery should be taken into consideration seriously to exclude the possibility of malignancy.
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PMID:Thymic lymphoid hyperplasia with Graves' disease in a 28-year-old female: a case report. 3242 Feb 70


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