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)

The male proband reported here was born with appropriate anthropometric parameters at term as the second child of healthy nonconsanguineous parents. His only clinical symptom was bilateral congenital cataracts with strabismus at birth, and both lenses were removed surgically at the age of 8 months. The perinatal and infantile period thereafter was clinically uneventful and his psychomotor development appeared almost normal. At the age of 6 years he was hospitalized for slight muscle weakness, minor ptosis, nystagmus and decreased physical activity. Soon after, his general condition worsened, gait ataxia presented, dysphagia and difficulty of speech followed by rapidly progressive generalized ataxia, and myopathy developed. Typical progressive gray matter degeneration with focal necrosis in the basal ganglia characteristic of the Leigh type of neuropathology could be detected by cranial MRI, the muscle histology showed ragged-red fibers. At the age of 7.5 years, unexpected left side hemiparesis with speech disability resembling that seen in MELAS syndrome developed, from which he recovered within 1.5 days. The mtDNA of the patient showed single 6.7 kb large-scale deletion harboring between 7817 and 14 536 bp. This case represents the first report of a verified mtDNA mutation associated with congenital cataracts as the first clinical sign of a later developing progressive neuromuscular disease presented with a combination of Leigh neuropathology, ragged-red fiber histopathology and stroke-like attack.
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PMID:Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion. 1273 42

The clinical efficacy of gefitinib, a tyrosine kinase inhibitor of epidermal growth factor receptor (EGFR), on brain metastases (BMs) from non-small-cell lung cancer (NSCLC) was evaluated. Fifteen patients with recurrent NSCLC with metastasis to the brain were treated with gefitinib. The objective tumor response rate (60%; 9 of 15 patients) for BM was the same as for primary tumors. The median time to response of BM was 26 days. In 8 of 9 patients who exhibited partial response in the thoracic lesion, BM showed dramatic regression, including 1 complete response. One patient with stable primary tumor also exhibited partial response in BM with this monotherapy. Brain metastasis-related neurologic symptoms such as hemiparesis, dysarthria, dysphagia, and vertigo improved or disappeared with the objective response of BM as confirmed by magnetic resonance imaging. Central nervous system toxicities were not observed during the treatment. Four of the 9 BM responders are still under treatment with neither adverse events nor disease progression. Two discontinued the treatment because of severe hepatic toxicity and 3 died because of acquired resistance in pulmonary lesions, even though partial response was observed in the BMs. Finally, median duration of response of BM was 8.7 months and median overall survival was 8.3 months (range, 1.8 to > 15.7 months). Molecular targeted therapy against EGFR could be an option for the treatment of BM from NSCLC refractory to conventional chemotherapy plus radiation therapy because it has demonstrated a distinct therapeutic potential against BM compared with primary lung tumor and extracranial metastases.
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PMID:Gefitinib in patients with brain metastases from non-small-cell lung cancer: review of 15 clinical cases. 1547 98

Progressing stroke with neurological deterioration (PSND), i.e., neurological deterioration of patients during the first days following a stroke, although not an infrequent event, has hitherto been addressed only by few studies. This is the first investigation conducted in Israel with the aim to determine its prevalence and characteristics. Data regarding 140 patients with first ever stroke were collected prospectively between May 1999 and October 2000. All patients underwent a thorough daily neurological examination over the first 7 days, using the Canadian Neurological Scale. Most (90%), patients had hemiparesis, with dysarthria, aphasia and dysphagia being the most frequent associated neurological deficits. Thirty percent of the patients were on anti-aggregant therapy prior to the stroke. The prevalence of PSND was 23%. The 1-month in-hospital death rate of these PSND patients was 31%. Univariate analysis showed that previous anti-aggregant therapy, Parkinson's disease (PD), obesity, hyperlipidemia, and presence of aphasia were significantly more frequent in the PSND group. In addition, these patients arrived earlier to the emergency room. However, logistic regression analysis showed that only PD and obesity could possibly be considered as predictors for development of PSND. The prevalence as well as the death rate of PSND in this group of Israeli elderly is within the range reported in the literature. However, prior anti-aggregant treatment and PD, are here reported for the first time as associated conditions. Future research will possibly clarify the links between these entities and PSND.
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PMID:Progressing stroke with neurological deterioration in a group of Israeli elderly. 1591 Oct 42

We describe an 89-year-old woman who presented with an abrupt onset of headache and right hemiparesis. With the initial diagnosis of cerebral infarction, we started therapy using sodium ozagrel. The right hemiparesis worsened, however, and a continuous intravenous heparin injection showed no effect. Furthermore, nystagmus in the bilateral eyes, dysphagia, left hemiparesis, and central ventilation disorder appeared one after another in three weeks. A magnetic resonance images (MRI) of the head, performed on the fifth hospital day with regular intervals of axial sections, disclosed no lesion responsible for right hemiparesis. MRI of the brainstem and upper cervical cord, performed after two weeks with smaller intervals of axial sections, revealed a T2 high signal lesion in the left side of the medulla oblongata and upper cervical cord. After about five weeks from the onset of the disease, she died of pneumonia. With the pathological examination, we diagnosed as glioma originated in the left ventral part of medulla oblongata. Five similar cases of brainstem glioma have been reported so far. Our patient, the oldest one, showed an exceptionally rapid clinical course, instructing us to consider the possibility of medullary glioma even in the elderly patients presenting with acute onset hemiparesis followed by rapid and progressive appearance of brainstem signs.
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PMID:[An autopsied case of medullary glioma with an abrupt onset of headache and hemiparesis]. 1596 Jan 73

Patients with primary malignant brain tumor experience deterioration of multi-focal neurological deficits such as hemiparesis, aphasia, visual field defects, dysphagia, and disturbance of recent memory at the advanced stage of disease. With these advancing neurological deficits, many patients will inevitably prepare for death and may experience psychological and spiritual distress. Active listening is an important skill to explore the fears of patients with a terminal illness but in the advanced stage of a primary brain tumor, patients usually have great difficulty with verbal expression. Even if patients do not suffer from complete expressive aphasia, they often have difficulty verbalizing their thoughts and feelings. Sadly, disturbance of vocal expression is a common accompaniment of this pathology. Unless the pathophysiology is understood, an observer may fail to comprehend the patient's non-verbal communication. Seeking to understand these issues is a prerequisite of the preservation of dignity and provision of ethical care for such patients.
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PMID:Care for dying patients with primary malignant brain tumor. 1637 57

A 19-year-old immunocompetent man was admitted to hospital with diplopia, nausea, vomiting and change in mental status. The patient had a history of tuberculous meningitis that was diagnosed at another hospital 6 months before the present admission, and at that time anti-tuberculosis treatment was initiated using a first-line drug combination. A computed tomography (CT) scan of the brain revealed non-communicating hydrocephalus. A ventriculo-peritoneal shunt was inserted surgically. Two months later, the patient was hospitalized again for fever, dysphagia and left hemiparesis. At that time, his cranial CT findings were within normal limits; however, magnetic resonance imaging (MRI) revealed an irregular multilocular peripheral contrast-enhancing lesion in the posterior fossa. The abscess was surgically drained. The presence of acid-fast bacilli in the abscess material was demonstrated by Ziehl-Neelsen staining. Mycobacterium tuberculosis grew on Lowenstein-Jensen culture medium, and the strain was found to be resistant to isoniazid. One month after the operation, the patient became quadriparetic. Cervical MRI revealed a cervico-thoracic syringomyelitic cavity, after which a syringoperitoneal shunt was placed. Treatment with four drugs was continued for 10 months, and then treatment with three drugs for a total period of 18 months. The patient recovered, with residual quadriparesis. Even though very rare, isoniazid-resistant M. tuberculosis may be the causative agent of progressive tuberculosis.
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PMID:Cerebellar abscess and syringomyelia due to isoniazid-resistant Mycobacterium tuberculosis. 1713 74

Avellis syndrome is a rare form of alternating hemiparesis that is usually because of atherosclerosis. We report a 67-year-old man who developed paresthesiae of the left arm, dysphagia and dysphonia. The clinical picture, magnetic resonance imaging and cerebrospinal fluid findings were consistent with Avellis syndrome caused by brain stem arteritis because of late stage Borrelia burgdorferi infection, an extremely unusual aetiology for Avellis syndrome; this may well be the first such instance. It may be unrecognized in elderly patients with other risk factors for cerebrovascular disease.
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PMID:Avellis syndrome due to borreliosis. 1722 24

Head and neck irradiation may lead to accelerated atherosclerosis over several years. Delayed stroke has been described after head and neck irradiation administered for a number of conditions. However, brain stem stroke has only rarely been associated with irradiation. We report a patient with medullary hemorrhagic infarction 6 years after radiotherapy for nasopharyngeal carcinoma. A 42-year-old normotensive Chinese male had rapid onset of vertigo, diplopia, ataxia, dysphagia, hypophonic dysarthria, hemiparesis, and respiratory distress. Cranial MR imaging 2 days after symptom onset showed medullary infarction, and cranial MR imaging 5 days after symptom onset showed medullary hemorrhage. He needed ventilatory support and died of bacterial pneumonia 1 month later. Other risk factors for stroke were absent. Hemorrhagic infarction in this patient was likely associated with the radiotherapy. Radiotherapy is the first choice of treatment for nasopharyngeal carcinoma, however, it may induce fatal medullary hemorrhagic infarction.
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PMID:Medullary hemorrhagic infarction after radiation for nasopharyngeal carcinoma. 1747

Patients with Chiari malformation Type I (CM-I) most commonly present with chronic symptoms. A search of the current medical literature revealed scant information regarding acute presentations of CM-I in either pediatric or adult patients. The authors report on two children who presented with rapidly worsening neurological symptoms attributable to a previously undiagnosed CM-I. One patient became profoundly hypopneic with dysphagia and right hemiparesis over a less than 48-hour period. The second patient presented with a few days of worsening right hemiparesis, gait disturbance, and anisocoria. In addition to a CM-I, magnetic resonance imaging in the second patient revealed a holocord syrinx. Following urgent posterior fossa decompression, both patients rapidly improved in the 24 hours immediately following surgery and continued to improve in the subsequent weeks. Few reports detail acute symptoms due to CM-I and those that do exist almost exclusively involve adult patients. Although seemingly rare, the clinician should consider CM-I in the differential diagnosis in pediatric patients presenting with acute brainstem or long tract signs.
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PMID:Urgent surgical intervention in pediatric patients with Chiari malformation type I. Report of two cases. 1764 8

A patient with cancer undergoing chemotherapy via Portacath presented with severe progressive dysphagia and dysphonia. Unilateral paresis of the 9, 10, 11, and 12th cranial nerves was found (Collet-Sicard's syndrome or Villaret's syndrome), associated with ipsilateral jugular vein thrombosis identified by imaging. The use of central venous catheters is increasing, and even rare, hitherto unreported, complications need to be recognized. After catheter removal, the patient slowly improved with low-molecular weight heparin treatment and time.
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PMID:Dysphagia and dysphonia in a patient with cancer. 1968 34


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