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)

Patients with esophageal atresia (EA) or choanal atresia (CA) manifest similar clinical and pathophysiological features. To determine the significance of this observation, the clinical records of 80 patients with EA and 57 with CA were reviewed. This survey showed that similarities between the two conditions included inspiratory and expiratory dyspnea, episodes of reflex apnea and/or bradycardia, oropharyngeal dysphagia, vomiting, convulsions, hyperhydrosis, hyperthermia, sialorrhea, and sudden death. After the second year of life most symptoms disappeared spontaneously. In both conditions, respiratory effort resulted in partial or complete obstruction affecting both the inspiratory and expiratory phases of the respiratory cycle. Support for this finding was obtained by studying the breathing pattern of 3 patients with EA and 3 with CA, before and during postural respiratory loading. The data suggest that patients with EA are similar to those with CA, having upper airway instability that may result in obstructive hypopnea or apnea associated with expiratory grunting. It is possible that this upper airway instability is a manifestation of more general maturational dysautonomia previously not recognised in patients with EA.
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PMID:Esophageal atresia, choanal atresia, and dysautonomia. 206 8

A 67 years old man was admitted on July 1979 for nausea, dysphagia and rectal pain. At age 64 he had undergone radiotherapy on the lower lip for an epidermoid carcinoma. He remained then healthy. His medical history was negative with the exception of chronic bronchitis. He had never been exposed to toxic agents or drugs and had never left Europe. A few days after admission he suffered acute intestinal obstruction but at laparostomy no etiology was found. At the same time the patient complained of pain in all four limbs and he was found to have diffuse wasting of muscles, areflexia and distal sensory loss. No sign of dysautonomia was present. Physical examination was negative with the exception of a cervical lymphadenopathy. The lymph node biopsy showed an undifferentiated metastatic carcinoma. Negative investigations included: blood cells count; serum ionogram and immunoelectrophoresis; thyroid function tests; serological test for Chagas' disease. The following abnormalities were found: ESR: 55-105; CSF protein: 145 mg/100 ml and 1 cell mm3; whole blood folic acid: 1,7 mg/ml; Hbs antigen was present in blood; EMG showed evidence of denervation but motor conduction velocities were normal. By September the patient's weakness had increased and complete intestinal obstruction persisted. At oesophageal, gastric and duodenal fibroscopy no contraction was visible, and biopsies were negative. The patient died of peritonitis on October 5th, 1979. At necropsy peritonitis secondary to multiple perforation of the large bowel was found. No recurrence of the lip carcinoma or metastase or evidence of a primary carcinoma was found. Light microscopy showed no evidence of amyloidosis or scleroderma. Examination of the alimentary tract showed abnormalities restricted to the myenteric plexuses which varied from one level to another. In the small bowel there was hyperplasia of the smooth muscle and the myenteric plexuses were enlarged by marked proliferation of Schwann cells. Severe neuronal loss and nodules of Nageotte were also noted. Schwann cells proliferation was less marked in the stomach and large bowel. Lympho-histiocytic infiltration strictly confined to the region of the myenteric plexuses was present in oesophagus, stomach, large bowel and rectum. Mild chronic inflammatory lesions were also found in anterior and posterior spinal roots and semi-lunar ganglia. The striking feature of this case is the association of an undifferentiated carcinoma and a polyradiculoneuritis with a complete alimentary tract palsy of rapid onset, secondary to lesions restricted to the myenteric plexuses. The low folate level was insufficient to explain the neuropathy. Investigations showed no evidence of the usual causes of intestinal pseudo-obstruction: muscular, dysautonomic, toxic, plexic (idiopathic, familial, inflammatory), Chagas' disease). The clinical course, the pathological pictures of the alimentary tract and spinal roots and the association with a carcinoma suggest that our case may represent a paraneoplastic syndrome...
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PMID:[Paralysis of digestive tract with lesions of myenteric plexuses. A new paraneoplastic syndrome (author's transl)]. 729 42

Striatonigral degeneration (SND) is difficult to diagnose in vivo. The purpose of this study was to detect the best indicators for an early and reliable diagnosis of the disease. Eighteen patients clinically diagnosed as having SND were selected with rigorous inclusion criteria and compared to 18 patients with Parkinson's disease (PD) matched for age and disease duration. Apart from dysautonomia, the principal discriminant clinical features that distinguished SND from PD were the early appearance of the following symptoms and signs: (a) severe and atypical progressive parkinsonism characterized by bilateral bradykinesia and rigidity, slowness of gait, postural instability, and falls, and poor or absent response to adequate levodopa treatment; (b) increased tendon reflexes associated or not with frank pyramidal signs, severe dysarthria, and less consistently, dysphagia, stridor, antecollis, and stimulus-sensitive myoclonus, which, when present, are highly suggestive of the disease.
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PMID:"Pure" striatonigral degeneration and Parkinson's disease: a comparative clinical study. 765 45

Short term results following laparoscopic Nissen fundoplication were evaluated in 31 patients with symptomatic gastroesophageal reflux. 6 were females and 26 males, and they ranged in age from 5 months to 64 years (mean: 4.9 years in 19 younger than 18 years, and 39.3 years in 12 adults). Most of the adults who complained of pain and heartburn underwent pH monitoring, endoscopy, and manometry as needed. Milk scan was the most useful diagnostic tool for the evaluation of the children, who suffered mainly from gastroesophageal-related pulmonary disease. Indications for laparoscopic operation were identical with those for conventional open Nissen fundoplication. 1 case of dysautonomia died postoperatively; the rate of complications, mostly minor, was 22.5%. 3 patients required conversion to open Nissen fundoplication due to cardiorespiratory instability secondary to pneumothorax in 2, and to esophageal perforation in the third. 5 adults developed temporary dysphagia. 3 children had only partial improvement in their pulmonary disease following the operation, while the other 15 had complete relief. The total time for the laparoscopic operation averaged 245 minutes in adults, and 228 in children. Discharge was usually on the fourth postoperative day in adults (mean: 6.0 days). Regurgitation and heartburn were cured in 10 out of 11 adults (91%). All parents of children were satisfied. Symptomatic outcomes following laparoscopic Nissen fundoplication compare favorably with those of open surgery with respect to mortality, complications, and outcome.
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PMID:[Nissen fundoplication by laparoscopy]. 946 84

We report the case of a 72-year-old female with pure autonomic failure, a rare entity, whose diagnosis of autonomic dysfunction was determined with a series of complementary tests. For approximately 2 years, the patient has been experiencing dizziness and a tendency to fall, a significant weight loss, generalized weakness, dysphagia, intestinal constipation, blurred vision, dry mouth, and changes in her voice. She underwent clinical assessment and laboratory tests (biochemical tests, chest X-ray, digestive endoscopy, colonoscopy, chest computed tomography, abdomen and pelvis computed tomography, abdominal ultrasound, and ambulatory blood pressure monitoring). Measurements of catecholamine and plasmatic renin activity were performed at rest and after physical exercise. Finally the patient underwent physiological and pharmacological autonomic tests that better diagnosed dysautonomia.
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PMID:Hormonal and cardiovascular reflex assessment in a female patient with pure autonomic failure. 1101 9

Two clinical cases of canine dysautonomia are described. Two young female neutered dogs were presented with clinical signs including vomiting, diarrhoea, faecal tenesmus, dysphagia and urinary retention. Decreased tear production, dry mucous membranes, bilateral Horner's syndrome, decreased anal sphincter tone and gastrointestinal hypomotility were also observed. Presumptive diagnoses of dysautonomia were made based on the clinical presentation and investigations. Postmortem histopathological examination in one of the cases demonstrated marked depletion of neuronal cell bodies in the intestinal myenteric plexuses and parasympathetic ganglia, confirming the diagnosis in this case. Criteria for aiding the antemortem diagnosis of this rare condition based on clinical observations and diagnostic testing are proposed.
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PMID:Canine dysautonomia: two clinical cases. 1183 20

Thirty-eight patients of NIDDM, 12 of IDDM and 10 healthy age matched controls were subjected to seven standardised autonomic reflex function tests. A scoring criteria was utilised for diagnosing and grading the severity of dysautonomia. Eight patients of IDDM and 24 of NIDDM had dysautonomia. One-third of the patients in each group had grade IV autonomic dysfunction. Severity of autonomic dysfunction was directly related to the duration of disease in NIDDM whereas in IDDM this relation was not seen. Peripheral neuropathy was almost always associated with dysautonomia in NIDDM. On the contrary, in IDDM dysautonomia was independent of peripheral neuropathy. Charcot's arthopathy, dysphagia, constipation and nocturnal diarrhea were always associated with evidence of dysautonomia. Other symptoms viz. gustatory sweating, postural dizziness and impotence did not necessarily indicate dysautonomia.
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PMID:Clinical dysautonomia in diabetes mellitus--a study with seven autonomic reflex function tests. 1252 Oct 82

Tetanus is still widely prevalent in many parts of the world especially in the developing countries. This study was conducted to assess the demographic and clinical features, treatment and outcome of tetanus in adults with a special emphasis on identification of predictors of mortality. This was a retrospective study of all adult patients admitted with tetanus over a three-year period from 1998 to 2000 at Lok Nayak Hospital, New Delhi, India. The demography, clinical features, treatment and complications of the patients were assessed and were evaluated against two possible outcomes- survival or death, to identify the predictors of mortality. There were 217 adults (148 males, 69 females) admitted with generalized tetanus during the study period. The mean age of the patients was 36.08 +/- 18.84 years. In most instances (63.5%), wounds / injuries served as the source of infection. Overall 31.8% had mild, 21.7% had moderate and 46.5% had severe disease at presentation. Respiratory failure and dysautonomia were the frequently observed complications. Of the 217 patients, 82 died - a mortality rate of 37.78%. Parameters that were significantly associated with increased mortality were: age (especially > 60 years); shorter duration of symptoms - trismus, rigidity and dysphagia; severe disease at presentation and shorter period of onset. Tetanus is a preventable disease associated with a high fatality rate. Universal coverage of immunization programme and appropriate wound prophylaxis is the corner stone of tetanus eradication. The treatment of tetanus is difficult and requires specialized and intensive care. The presence of parameters indicating an adverse outcome at the beginning in the patients will help identify the subset of patients that need more intensive management especially in resource poor nations.
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PMID:Tetanus in adults--a continuing problem: an analysis of 217 patients over 3 years from Delhi, India, with special emphasis on predictors of mortality. 1670 28

Parkinson's disease is a progressive neurological disorder characterized by tremor, bradykinesia, rigidity, gait and postural instability and a variety of nonmotor symptoms. While these and other motor signs typically improve with levodopa, the so-called axial signs, such as dysarthria, dysphagia, postural instability and freezing, and most nonmotor signs, such as depression, cognitive decline and dysautonomia, usually do not respond satisfactorily to levodopa. Furthermore, the use of levodopa may be limited by the development of motor fluctuations, dyskinesias and other adverse effects. This manuscript reviews the medical management of advanced Parkinson's disease, focusing on the treatment of motor fluctuations and dyskinesias and of nonmotor and nonlevodopa responsive symptoms.
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PMID:Treatment of advanced Parkinson's disease. 1689 46

Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being described with increasing frequency. AOAD has a different clinical and neuroradiological presentation with respect to early-onset AD, as abnormalities are mainly concentrated in the brainstem-spinal cord junction. We report detailed clinical and genetic data of 11 cases of AOAD, observed over a 4-year period, and a review of the previously reported 25 cases of genetically confirmed AOAD. In our series, onset occurred as late as age 62, and up to 71 in an affected deceased relative. Most cases appeared sporadic, but family history may be misleading. The most frequent symptoms were related to bulbar dysfunction-with dysarthria, dysphagia, dysphonia (seven patients)-, pyramidal involvement (seven patients) and cerebellar ataxia (seven patients). Four patients had palatal myoclonus. Sleep disorders were also observed (four cases). Bulbar symptoms, however, were infrequent at onset and two symptomatic patients had an almost pure pyramidal involvement. Two subjects were asymptomatic. Misdiagnosis at presentation was frequent and MRI was instrumental in suggesting the correct diagnosis by showing, in all cases, mild to severe atrophy of the medulla oblongata extending caudally to the cervical spinal cord. In ten patients, molecular studies revealed six novel missense mutations and three previously reported changes in GFAP. The last typical patient carried no definitely pathogenic mutation, but a missense variant (p.D157N), supposedly a rare polymorphism. Revision of the literature and the present series indicate that the clinical picture is not specific, but AOAD must be considered in patients of any age with lower brainstem signs. When present, palatal myoclonus is strongly suggestive. Pyramidal involvement, cerebellar ataxia and urinary disturbances are common. Less frequent findings include sleep disorders and dysautonomia. Fluctuations may occur. The course is variable, usually slowly progressive and less severe than the AD forms with earlier onset. AOAD is more common than previously thought and might even be the most common form of AD. The diagnosis is strongly suggested by MRI and confirmed by GFAP gene analysis.
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PMID:Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. 1868 70


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