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

Pharyngeal constrictor paresis (PHCP) is sometimes found in videoradiography of the swallowing act in patients complaining of dysphagia. Ten patients with PHCP and 10 dysphagic, age- and sex-matched controls with normal videoradiography were neurologically evaluated and examined with magnetic resonance imaging (MRI) of the brain and brainstem in order to learn the pathogenetic process behind PHCP. The study revealed 8 PHCP patients and 1 dysphagic control with abnormal clinical neurological findings such as myopathy, cerebrovascular disease, or extrapyramidal disease. The neurological examination revealed considerable information of prognostic and therapeutic value in PHCP patients. The MRI was abnormal in 7 PHCP patients and 4 dysphagic controls. However, the findings in MRI were nonspecific but the examination was found to be valuable in selected cases. It is concluded that PHCP is an indicator of neurological disease and accordingly, such patients should be examined by a neurologist to establish the cause of the disease.
Dysphagia 1993
PMID:Pharyngeal constrictor paresis: an indicator of neurologic disease? 835 45

Two Japanese male siblings, aged 68 and 59 years, affected by late-onset progressive ataxia distinguished by extensive sensory and mild autonomic disturbances are described. They had global thermoanalgesia, positive Romberg signs, sensorineural deafness, canal paresis and ageusia. Their autonomic disturbances consisted of absence of overflow tears with usual stimuli, dysphagia, blood pressure and vasomotor instability, diarrhoea/constipation, and urinary frequency. Sensory nerve action potentials were completely absent, whereas motor conduction velocity was slightly reduced only in the lower extremities. Sural nerve biopsy on the younger brother demonstrated a marked loss of myelinated fibres and a reduction in the number of unmyelinated axons. Tongue histology revealed absence of fungiform papillae and taste buds. Autonomic function tests showed widespread but mild sympathetic and parasympathetic failures. Neuro-imaging studies revealed atrophy of the spinal cord, cerebellum, brainstem and corpus callosum, and enlargement of the lateral, third and fourth ventricles. These siblings represent a previously unrecognized variant of late-onset hereditary spinocerebellar degeneration with global thermoanalgesia and absence of fungiform papillae on the tongue.
 ...
PMID:Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family. 867 78

We report a patient with medial medullary infarction who showed deep sensory impairment as his prominent neurological manifestation. A 54-year-old man with a history of hypertension was admitted to our hospital with numbness of the bilateral upper and lower extremities, followed by dysarthria and right hemiparesis. Physical examination revealed no abnormalities except for high blood pressure. He hiccuped continuously. On neurological examination, he exhibited dysarthria, mild dysphagia and right hemiparesis without facial or lingual paresis. Sensitivity to light touch and pinprick was normal, but sensitivity to vibration and joint position was severely decreased in the bilateral upper and lower extremities, predominantly in the lower extremities and on the right side in the upper extremities. He had been treated with antiedema agents and thromboxane synthetase inhibitor. His hiccups stopped within two weeks, and his right hemiparesis gradually improved within one month. However, his deep sensory impairments remained prominent. Blood examinations disclosed positive lupus anticoagulant. MRI showed bilateral infarction at the medial portion of the upper medulla oblongata, extending to both pyramids, especially on the left. Somatosensory evoked potentials (SEP) after median nerve stimulation showed P14 and the later components with prolonged latency. No SEP were recorded after posterior tibial nerve stimulation. The latency of P14 was well correlated with the severity of deep sensory impairments in the upper extremities. Neurological manifestations of our patient are not typical of medial medullary infarction, and are informative about the functional anatomy of the deep sensory tract in the medulla oblongata. We discuss the relation of the intractable hiccups to the bilateral medial medullary lesions, and emphasize the importance of lupus anticoagulant as one of the risk factors in brainstem infarction.
 ...
PMID:[A case of medial medullary infarction with prominent deep sensory impairment]. 892 33

The responses to regular intravenous enzyme infusions were compared in two sibs with Gaucher disease type 2, the acute neuronopathic variant. Enzyme administration was begun at 7 months in patient 1 who had severe progressive visceral and neuronopathic disease. No significant effect of enzyme infusions was noted. Death occurred at 9 months. Patient 2 was prenatally diagnosed and enzyme infusions were initiated at age 4 days. Overall development progressed at a rate similar to her unaffected full sib until her death at 15.1 months. Slowly progressive esotropia, ocular paresis and dysphagia began at 8 months as did infiltrative pulmonary disease. Comparison of these clinical courses show significant visceral and neurologic effects of anticipatory enzyme therapy, but with unaltered outcome, for Gaucher disease type 2.
 ...
PMID:Gaucher disease: enzyme therapy in the acute neuronopathic variant. 921 62

We report a case of large cystic acoustic neurinoma. A 52-year-old male was admitted to hospital with a history of progressive dysphagia, gait disturbance and diplopia for 2 months. On admission, neurological examinations revealed Bruns' type nystagmus to the left side, hypesthesia in the distribution of the second and third divisions of the left trigeminal nerve, and partial paresis of cranial nerves IX, X, and XII on the left side, and truncal ataxia. A pure-tone threshold audiogram indicated the presence of 32 dB hearing loss in the left ear. Speech discrimination was 80%. Caloric vestibular responses were absent on the left side. Skull radiographs with polytomographs of the internal auditory canal (IAC) were normal. Bony changes in the IAC were not found by high-resolution bone-window computed tomography (CT) scan. A plain CT scan revealed a large low-attenuated cystic mass in the left cerebellopontine angle (CPA), which was associated with displacement of the fourth ventricle. An enhanced CT scan demonstrated a thin rim-enhancement in the cyst wall. Magnetic resonance imaging (MRI) scans disclosed a large rim-enhanced cystic mass extending superiorly into the tentorial incisura and inferiorly into the foramen magnum. At surgery via a left suboccipital approach, a large cystic mass was found at the left CPA arising from the VIIIth nerve, and compressing the Vth, VIth, VIIth and lower cranial nerves. The cyst was filled with a xanthochromic fluid and was firmly attached to the internal auditory meatus (IAM). However no tumor extension into the IAM was confirmed. The tumor was excised completely. The postoperative course was uneventful, except for impairment of the VIIth and VIIIth nerves. At 6 months after the first operation, the facial nerve had improved up to grade III (Hause-Brackmann stage). Histological examinations revealed a typical benign acoustic neurinoma with predominant representation of Antoni B tissues. The cyst wall contained numerous abnormal sinusoid and telangiectasia-like vessels which showed occasional thromboses. The vessel walls displayed endothelial proliferations and were frequently hyalinized. Hemosiderin deposits and hemosiderin-containing phagocytes were also found near these vessels. Myxoid degeneration and necrosis were evident in vast areas. These degenerative changes appeared to be the principal causes of the large cystic formation. 16 cases including our case have been reported. The broad characteristics of the clinical symptoms and radiological findings of these tumors are discussed.
 ...
PMID:[Large cystic neurinoma: a case report]. 921 60

Sixty-three patients with tick-borne encephalitis were studied for sequelae up to 5 years after the acute illness (median: 12 months, range: 1-44 months). Patients were examined clinically, by neuropsychological testing and by electroencephalography. The clinical presentation during the acute stage was as follows: Meningitis (M,n = 12), Meningoencephalitis (Me,n = 27), Meningoencephalomyelitis (My,n = 15), and Meningoencephaloradiculitis (R,n = 9). A total of 59 patients reported a neurasthenic syndrome after discharge, which correlated with the severity of the acute illness. Twenty patients were not able to work because of reduced stress tolerance, fatigue or an elevated emotional sensitivity, which lasted for 3 months at most. In some patients hypacusis (n = 7), severe dysarthria and dysphagia (n = 4) remained essentially unimproved for years following the acute illness. While in 8/9 patients with radiculitis paresis of the extremities improved well over months to years, improvement was quite limited in all patients with myelitis. In 41/55 patients, investigations by electroencephalography revealed normal findings even within months after acute illness. Persistent cognitive deficits were present only in 7/11 patients with a severe course of disease.
 ...
PMID:[Follow-up and prognosis of early summer meningoencephalitis]. 927 61

Although swallowing difficulties (dysphagia) frequently occur in acute brainstem infarction, physiological studies of dysphagia (videofluoroscopy, manometry) are rarely reported. We present a patient with ipsilateral Horner's syndrome, palatal and laryngeal weakness, aphagia, and ipsilateral face and contralateral extremity pin and temperature loss due to lateral medullary infarction confined to the rostral dorsolateral medulla (RDM). Videofluoroscopy showed that the patient was unable to initiate a swallow. Manometry showed a markedly reduced peak pharyngeal pressure and weak pharyngeal contractions. Within 20 months, the patient's neurological deficits resolved, videofluoroscopy showed a normal swallow, and manometry showed normal peak pharyngeal pressure. Correlation of the clinical, physiological, and imaging evaluations shows that aphagia and severe bilateral pharyngeal paresis can result from unilateral RDM infarction. We suggest that, in man, the bilateral medullary swallowing centers function as one integrated center, and that infarction of a portion of this center is sufficient to cause complete loss of swallowing.
 ...
PMID:Aphagia due to pharyngeal constrictor paresis from acute lateral medullary infarction. 956 69

In a family with two sets of dizygotic twins, three, possibly all four, siblings were affected by the same disorder. The parents were unrelated and the illness seemed limited to one generation. Onset was in the early to mid-20s with tics and choreiform movements, dysarthria, and dysphagia. Two twins had epilepsy. There was a marked dyscoordination of bulbar musculature reminiscent of pseudobulbar paresis. Involuntary movements were prominent during the first years, but then disappeared and were replaced by an akinetic-rigid parkinsonian appearance in the late stage. The intellect remained largely intact. Tendon reflexes were reduced. Varying degrees of peripheral nerve changes were seen. Two patients died after 22-24 years from causes indirectly related to the main illness. Marked degenerative changes were found in the caudate nucleus and putamen. Acanthocytes in significant numbers could not be detected in peripheral blood. Lipoproteinelectrophoresis was normal. Creatine kinase levels were moderately raised in one patient, normal in the others. Although certain clinical resemblances exist with neuroacanthocytosis, the exact nosologic status of the disorder has not been determined.
 ...
PMID:Progressive pseudobulbar paresis, early choreiform movements, and later rigidity: appearance in two sets of dizygotic twins in the same family. 961 54

In order to evaluate complications due to cervical spine surgery using the anterior cervical approach a prospective study was conducted on 125 patients. ENT examination with the fibroscope was employed for all the patients before the procedure. The patients were operated on under general anesthesia and were intubated with an armoured tube, and then were placed in an intensive care unit for 24 hours. Assessment of deglutition and an ENT examination were performed the day after surgery. Before surgery, two cases of vocal cord paralysis were noted. 111 patients (88.8%) presented with subjective disorders: problems such as sore throat, odynophagia, dysphagia, dysphagia with overspill and hoarseness were respectively noted in 55 (44%), 34 (27.2%), 32 (25.6%), 11 (8.8%) and 13 (10.4%) cases. Dyspnoea was found in 2 cases (1.6%). 117 patients (93.6%) presented postoperative anomalies which were found on the posterolateral pharyngeal wall, on the arytenoids and on posterior third of the vocal cords. Inflammatory and/or swollen lesions were slight, moderate, significant or very significant in respectively 22.4%, 22.4%, 15.2% and 1.6% of cases. Very significant circumferential swelling of the pharyngeal wall and of the arytenoids was responsible for two cases of respiratory distress, and the patients required reintubation and return to theatre. Severe pharyngeal lesion correlated with duration of surgery (r = 0.20; p < 0.05), with the number levels of fusion (r = 0.02; p < 0.02) and with the age of the patient (p < 0.02). Six patients presented problems of mobility of the vocal cords: 3 had a right vocal cord paresis which was temporary and 3 had paralysis, also on the right but which persisted. There were no other complications. It is concluded that (i) ENT complications are frequently found in postoperative cervical spine surgery using the anterior cervical approach, some of them being severe. An ENT examination must be performed before the procedure for legal reasons. It is also recommended in the postoperative period in the case of discomfort; (ii) patients need to be placed in an intensive care unit during for the first 24 hours (iii). This study needs to be attended over more patients (iv) comparison with a control group of patients having non cervical surgery and intubated in the same way is needed to differentiate lesions related to surgery or intubation.
 ...
PMID:[A prospective study of ENT complication following surgery of the cervical spine by the anterior approach (preliminary results)]. 977 50

1. Amyotrophic lateral sclerosis (ALS) is a degenerative disorder characterized by selective damage to the neural system that mediates voluntary movement. Although the pathophysiologic process of ALS remains unknown, about 5 to 10% of cases are familial. According to genetic linkage studies, the familial ALS (FALS) gene has been mapped on chromosome 21 in some families and recent work identified some different missense mutations in the Cu/Zn superoxide dismutase gene in FALS families. 2. We recently identified five mutations in six FALS families. The mutations identified in our FALS families are H46R, L84V, I104F, S134N, and V148I. The H46R mutation that locates in the active site of Cu/Zn SOD gene is associated with two Japanese families with very slow progression of ALS. On the other hand, the L84V mutation associated with a rapidly progressive loss of motor function with predominant lower motor neuron manifestations. 3. In the family with the V148I, the phenotype of the patient varied very much among the affected members. One case had weakness of the lower extremities at first and died without bulbar paresis. The second case first noticed wasting of the upper limbs with bulbar symptoms, but the third had weakness of upper extremities without developing dysarthria nor dysphagia until death. These mutations account for 50% of all FALS families screened, although Cu/Zn SOD gene mutations are responsible for less than about 13-21% in the Western population. 4. Our results indicate that the progression of disease with mutations of Cu/Zn SOD is well correlated with each mutation. The exact mechanism by which the abnormal Cu/Zn SOD molecules selectively affect the function of motor neurons is still unknown.
 ...
PMID:Molecular analyses of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan. 987 71


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>