Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myasthenia gravis is a neuromuscular disease of insidious onset, characterized by weakness and fatigability of voluntary muscles. Most patients present with symptoms relating to the head and neck and thus may be seen first by the otolaryngologist. Predominant symptoms may be ocular (ptosis or diplopia) or related to fatigue of the oropharyngeal or laryngeal musculature (dysarthria, dysphonia, or dysphagia). Alleviation of muscular weakness and fatigability after administration of anticholinesterase drugs is pathognomonic of myasthenia gravis.
 ...
PMID:The otolaryngologic presentation of myasthenia gravis. 44 37

Seven patients with myasthenia gravis (MG) unresponsive to thymectomy and steroid treatment (Osserman group III) underwent plasma perfusion (PP). All patients showed palpebral ptosis, diplopia, dysphonia, dysphagia, and muscle weakness; five of them had impaired ventilatory function. Separated plasma was perfused onto a column to adsorb anti-AChR-Ab. Each patient received a treatment cycle of six PP sessions. Clinical conditions were assessed before and after the treatment, with evaluation of muscular strength, ventilatory function, and electromyographic testing (RSS). Immunologic markers were tested before and after each PP. Clinical improvement in bulbar symptoms and respiratory function was noted in all patients after one to three PP. Limb muscle strength began to improve later. Serum concentration decreased (mean % +/- SD) after each PP:anti-AChR-Ab 36.47 +/- 17.43; IgA 20.44 +/- 11.26; IgG 21.24 +/- 32.56; IgM 23.22 +/- 11.40; C3 36.78 +/- 10.15; C4 42.69 +/- 14.82. In five of seven patients the improvement continues (follow-up 1 to 10 months). In one patient it lasted only 1 month, and in another a relapse occurred after 10 months of benefit, but was successfully reversed by retreatment.
 ...
PMID:Plasma perfusion in myasthenia gravis. 319 71

Thirteen outbreaks of food-borne botulism occurred between 1970 and 1984. Fifty patients were affected, with 30 of them requiring hospitalization. The number of patients per outbreak ranged from one to ten (mean, 3.8). All outbreaks were caused by home-prepared foods: nine by smoked ham, one by bacon, one by sausage, and one by mussels; contaminated food was not found in one outbreak. Bacteriologic study was performed in 11 outbreaks and type B toxin, the only found, was detected in eight of them. Generalized muscular weakness, visual disturbances, extreme dry mouth, and severe constipation were observed in all inpatients. Palpebral ptosis, dysphonia, urinary retention, postural hypotension, and respiratory impairment were also reported, but not in all inpatients. Identical, but less severe, manifestations were registered in the 20 ambulatory patients. Electromyographic study showed decreased motor action potential and posttetanic facilitation. Pulmonary function, studied in four inpatients, was decreased in three. All patients recovered fully. Management consisted of supportive measures, symptomatic treatment, and nursing care. Equine antitoxin was not administered and assisted ventilation was unnecessary.
 ...
PMID:Food-borne botulism. A review of 13 outbreaks. 334 59

A 27-year-old man was bitten by a coral snake in Mexico. Within 24 hours he had ptosis, dysphonia, difficulty chewing, and limb weakness. His symptoms peaked at 72 hours with loss of ambulation. Neurologic examination was consistent with severe myasthenia. Repetitive stimulation of the median nerve showed a postsynaptic defect that was not corrected by edrophonium. He was monitored in an intensive care unit, but received no antivenom globulin or acetylcholinesterase inhibitors. The syndrome abated in 3 weeks.
 ...
PMID:Neurologic complications of a coral snake bite. 398 52

This paper reports the findings in a 32-year-old man who presented in adult life with a myasthenic syndrome characterized by dysphagia, dysphonia, fluctuating ptosis, episodic diplopia and a variable weakness of the limbs and trunk. Electromyography showed a small decremental response, increased neuromuscular jitter and blocking of some components. Histochemical and electron microscopic studies revealed changes in end-plate morphology and prominent tubular aggregations within the muscle fibres. Radiochemical investigations using di-iodinated 125I-alpha-bungarotoxin demonstrated a reduction in the number of AChR and alterations in receptor affinity which suggested an abnormality of the AChR macromolecule.
 ...
PMID:Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect. 626 5

A prospective open study of botulinum toxin A treatment for patients with various movement disorders at Siriraj Hospital, Mahidol University was analysed to evaluate its efficacy. The grand total of 900 patients comprised of a) 592 patients (65.78 per cent) with hemifacial spasm; b) 92 patients (10.22 per cent) with occupational cramp; c) 79 patients (8.78 per cent) with blepharospasm and Meige syndrome; d) 72 patients (8.00 per cent) with spasmodic torticollis; e) 19 patients (2.11 per cent) with hemidystonia and generalised dystonia; f) 11 patients (1.22 per cent) with spasmodic dysphonia; g) 10 patients (1.11 per cent) with spastic hemiparesis; and h) 25 patients (2.78 per cent) with miscellaneous group (i.e. tics, Gilles de la Tourette, facial myokimia, benign fasciculation, etc.). The results of treatment for hemifacial spasm were classified as excellent in 486 patients (82.09 per cent), moderate improvement in 60 patients (10.14 per cent), mild improvement in 39 patients (6.59 per cent) and no improvement or worse in 7 patients (1.18 per cent). There were complications of mild transient facial weakness in 50 patients (8.45 per cent) and mild ptosis in 12 patients (2.02 per cent). The effect of botulinum toxin treatment lasted 3-6 months. In occupational cramp and spasmodic torticollis the good response rate was around two-thirds of all patients, whereas, blephalospasm, spasmodic dysphonia, spastic hemiparesis and tics responsed in 79-88 per cent of the patients. Botulinum toxin A injection is thus a simple, safe, and effective out-patient treatment for patients with various kinds of movement disorders but it is a costly therapy.
 ...
PMID:Treatment of various movement disorders with botulinum A toxin injection: an experience of 900 patients. 756 52

Myasthenia gravis (MG) is a rare complication of allogeneic bone marrow transplantation (BMT). We present the 11th case in the medical literature, a 23-year-old female 100 months post-allogeneic bone marrow transplantation for acute myelogenous leukemia (AML). After discontinuation of immunosuppression for chronic graft-versus-host disease (GVHD) involving skin, gastrointestinal tract and lacrimal glands, the patient developed severe, progressive dysphagia initially attributed to esophageal candidiasis. With the development of muscle weakness, ptosis, and dysphonia the diagnosis of generalized myasthenia gravis was suspected, and confirmed by elevated anti-acetylcholine receptor antibody titer and a positive edrophonium challenge. Prednisone and pyridostigmine produced improvement, and thymectomy was performed without pathologic evidence of thymoma. Recurrent post-operative respiratory distress required transient mechanical ventilation. Twenty-seven months after diagnosis, the patient requires maintenance prednisone to control symptoms of myasthenia gravis. The clinical features of all reported cases of MG post-allogeneic BMT are reviewed, and universal features include an association with decreasing immunosuppression, the presence of other manifestations of chronic GVHD, anti-acetylcholine receptor antibodies, and the absence of an associated thymoma. HLA Cw1, Cw7 and DR2 were identified at frequencies significantly above that expected from HLA antigen prevalance studies, and may be markers for increased risk of developing MG post-allogeneic BMT. No statistically significant associations with HLA A2, B7, B35 or donor-recipient sex mismatch were present. Reinstitution of immunosuppression and standard therapies for myasthenia gravis were effective in the majority of cases. The role of thymectomy in this population remains unclear.
 ...
PMID:Myasthenia gravis in association with allogeneic bone marrow transplantation: clinical observations, therapeutic implications and review of literature. 915 70

We have retrospectively analysed the records of patients diagnosed as having myasthenia gravis and followed up in our department from February 1973 to March 1995. The main clinical findings were ptosis, diplopia, dysphagia, dysphonia or dysarthria, mastigatory impairment, dyspnea, asthenia, weakness of the cervical muscles and of the extremities, as well as findings of the physical and neurological examination. Based on the information collected, the patients were classified clinically according the modified Osserman-Gerkins scale, but considering the non-dynamic aspects of that scale, we used the modified functional scale of Niakan and classified the patients clinically as follows: remission, controlled, stable, partially controlled, poorly controlled, no response. We collected 153 patients, 104 (68.0%) females and 49 (32.0%) males producing a female/male ratio of 2.2:1. The duration of the disease varied from seven days to 27 years, mean 6.26 years (+/- 5.44). Age at the first symptoms varied between 24 hours to 80 years, mean of 32.13 years (+/- 19.48). We had 30 patients ranging from 0 to 15 years of age, 91 patients were observed between 15 and 50 years and 32 patients after the age of 50 years. Above the age of 60 years, the disease aflicts males more than females with a ratio of 1.5:1. The acquired autoimmune form with generalized weakness was the most frequent presentation. However, ocular muscle weakness with ptosis and diplopia were the most common clinical presentation in our series.
 ...
PMID:[Myasthenia gravis. Clinical evaluation of 153 patients]. 1045 Mar 54

An 18-year-old man was bitten on the hand by a snake he believed to be a Southern Pacific rattlesnake (Crotalus viridis helleri). Within minutes he developed generalized weakness, difficulty breathing, diplopia, dysphagia, and dysphonia. Neurological examination revealed ptosis and decreased motor strength. These symptoms partially improved after administration of Antivenin (Crotalidae) Polyvalent, but the patient continued to have difficulty walking for several days due to weakness. In addition to neurological symptoms, the patient also experienced pain immediately after the bite occurred and rapid swelling of the entire extremity, which extended beyond the shoulder. He complained of a metallic taste in his mouth and developed intense muscle fasciculations of the face, tongue, and upper extremities, which lasted for 2 days and did not improve with antivenin treatment. He exhibited laboratory evidence of coagulopathy and rhabdomyolysis. Although neurotoxins are known to occur in the venom of certain populations of rattlesnakes, only a few clinical reports describing severe neurological symptoms appear in the literature. To our knowledge, this is the first reported case of neurotoxicity associated with a suspected Southern Pacific rattlesnake envenomation.
 ...
PMID:Neurotoxicity associated with suspected southern Pacific rattlesnake (Crotalus viridis helleri) envenomation. 1062 85

Clinicopathological and molecular genetic findings on a new Japanese family with oculopharyngeal muscular dystrophy are reported. The family has 54 members, ten of whom are affected (seven male and three female), in 3 generations. Three affected males, one affected female and one unaffected female of seven living siblings in the third generation were examined. Bilateral ptosis developed in the 4th and 5th decades in the three male cases, and in the 7th decade in the female, and this was followed by diplopia, nasal voice, dysphagia and muscle weakness. In addition, severe external ophthalmoplegia, dysphonia, and proximal amyotrophy were prominent in this family. Electromyographs revealed myogenic/neurogenic changes, and computed tomography disclosed selective muscle wasting with fatty replacement, predominantly in the lower extremities. Muscle biopsy in the four affected patients showed variation in fiber size, and the presence of small angulated fibers and occasional rimmed vacuoles. Electron microscopic examination revealed an accumulation of filamentous inclusions in muscle fiber nuclei. DNA analysis identified that (GCG)(6) in the PABP2 gene was expanded to (GCG)(11) in the four affected cases examined. All studies were negative in the one unaffected. These results confirm that OPMD is caused by GCG short expansion and provides insights into the genetic mechanisms which may contribute to adult onset myopathy, confined to oculopharyngeal muscles.
 ...
PMID:Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene. 1073 63


1 2 3 Next >>